Polymorphisms
|
Family 25
|
Isolated cases
|
---|
Position
|
Nucleotide change
|
BR22
|
BR23
|
BR99
|
BR100
|
BR101
|
BR102
|
BR103
|
BR175
|
BR342
|
TBL 38
|
---|
| |
M
|
w.t.
|
w.t.
|
M
|
M
|
M
|
w.t.
|
M
|
M
|
M
|
EX2
|
203G>A
|
G>A
|
G-G
|
G>A
|
A-A
|
A-A
|
A-A
|
G-G
|
G>A
|
G>A
|
G>A
|
INTR8
|
IVS8+56C>T
|
C-C
|
C-C
|
C>T
|
C>T
|
C-C
|
C-C
|
C-C
|
C>T
|
C-C
|
C>T
|
EX10B
|
1342A>C
|
A>C
|
C-C
|
A-A
|
A-A
|
A-A
|
A-A
|
C-C
|
A-A
|
A-A
|
A-A
|
EX11-J
|
3624A>G
|
A>G
|
A-A
|
A>G
|
G-G
|
G-G
|
G-G
|
A-A
|
A>G
|
A>G
|
A>G
|
EX11K
|
4035T>C
|
T-T
|
T-T
|
T>C
|
T-T
|
T-T
|
T-T
|
T-T
|
T-T
|
T>C
|
T-T
|
INTR11Q
|
IVS11+80del4
|
-4/4
|
4/4
|
-4/4
|
-4/-4
|
-4/4
|
-4/-4
|
4/4
|
-4/4
|
-4/4
|
-4/4
|
EX14A
|
7470A>G
|
A>G
|
A-A
|
A>G
|
G-G
|
G-G
|
G-G
|
A-A
|
A>G
|
A>G
|
A>G
|
INTR17
|
IVS16-14T>C
|
T>C
|
T>C
|
T>C
|
C-C
|
C-C
|
C-C
|
T>C
|
C-C
|
T>C
|
T>C
|
- M: mutated; w.t.: wild-type; numbers in bold indicate the shared allele.