No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
1 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Male |
Not Rett synd. |
1971 |
2 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Female |
Not Rett synd. |
1972 |
3 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Male |
Not Rett synd. |
1982 |
4 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Male |
Not Rett synd. |
1983 |
5 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Male |
Not Rett synd. |
1984 |
6 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Female |
Not Rett synd. |
1985 |
7 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Female |
Not Rett synd. |
1986 |
8 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Male |
Not Rett synd. |
1987 |
9 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Male |
Not Rett synd. |
1988 |
10 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Female |
Not Rett synd. |
1989 |
11 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Female |
Not Rett synd. |
1990 |
12 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Female |
Not Rett synd. |
1991 |
13 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Male |
Not Rett synd. |
1992 |
14 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Male |
Not Rett synd. |
1993 |
15 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Female |
Not Rett synd. |
1994 |
16 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Female |
Not Rett synd. |
1995 |
17 |
c.-168-?_*?dup |
p.Met1? |
In-frame insertion or deletion |
N-term |
Unknown |
Female |
Not Rett synd. |
1996 |