No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
1 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1820 |
2 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1865 |
3 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2073 |
4 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
2075 |
5 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2076 |
6 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2498 |
7 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2534 |
8 |
c.-168-?_26+?del |
p.Met1? |
large deletion |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2760 |
9 |
c.-168-?_26+?del |
p.Met1? |
large deletion |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2761 |
10 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-classical |
2783 |
11 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3611 |
12 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3769 |
13 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3770 |
14 |
c.-168-?_26+?del |
p.Met1? |
exon deletions |
N-term |
Mutation associated with disease |
Female |
Rett syndrome-classical |
3771 |