|
Homozygote
| |
Compound heterozygotes
| |
Heterozygote
| |
|---|
|
Mutation
|
Number
|
Mutation
|
Number
|
Mutation
|
Number
|
|---|
|
M694I/M694I
|
2
|
E148Q/M694I
|
15
|
E148Q/wild-type
|
21
|
| | |
L110P/E148Q/M694I
|
14
|
M694I/wild-type
|
13
|
| | |
L110P/E148Q
|
13
|
R202Q/wild-type
|
8
|
| | |
L110P-E148Q/E148Q
|
6
|
E84K/wild-type
|
3
|
| | |
P369S/R408Q
|
4
|
S503C/wild-type
|
2
|
| | |
L110P/E148Q/P369S/R408Q
|
4
| | |
| | |
E84K/L110P/E148Q
|
2
| | |
| | |
M694I/S503C
|
1
| | |
| | |
E148Q/S503C
|
1
| | |
| | |
L110P-E148Q/L110P-E148Q
|
1
| | |
| | |
L110P/E148Q/G304R
|
1
| | |
| | |
E148Q/P369S/R408Q
|
1
| | |
| | |
E148Q/E148Q-P369S-R408Q
|
1
| | |
| | |
E148Q/R202Q/P369S/R408Q
|
1
| | |
| | |
G304R/P369S/R408Q
|
1
| | |
| | |
E148Q/R202Q
|
1
| | |
|
Total
|
2
| |
67
| |
47
|
