Table 2. Haplotypes reconstructed in the XLPRA1 pedigree.
| Gene |
Haplotype |
Gene |
Haplotype |
| RAB8A |
1 |
2 |
3 |
4 |
5 |
6 |
7 |
CC2D2A |
1 |
2 |
3 |
4 |
5 |
6 |
7 |
|
|
|
| chr20:46336246 |
C |
C |
C |
C |
C |
C |
A |
chr3:64841219 |
A |
A |
A |
A |
T |
T |
T |
|
|
|
| 46344912 |
C |
C |
C |
C |
G |
G |
G |
64854752 |
C |
G |
T |
T |
C |
C |
C |
|
|
|
| 46349143 |
T |
T |
C |
C |
T |
C |
T |
64859223 |
G |
T |
C |
T |
G |
T |
T |
|
|
|
| 46351756 |
G |
A |
G |
A |
G |
G |
G |
64861317 |
A |
A |
A |
A |
G |
A |
G |
|
|
|
| RPGRIP1L |
1 |
2 |
3 |
4 |
5 |
6 |
|
DFNB31 |
1 |
2 |
3 |
4 |
5 |
6 |
7 |
8 |
9 |
10 |
| chr2:62092489 |
C |
C |
C |
G |
G |
G |
|
chr11:68620384 |
A |
A |
A |
A |
A |
G |
G |
G |
G |
G |
| 62122046 |
A |
A |
A |
T |
T |
T |
|
68642086 |
T |
T |
T |
G |
G |
T |
T |
T |
T |
T |
| 62138129 |
A |
A |
C |
A |
A |
A |
|
68658508 |
A |
A |
A |
A |
A |
G |
G |
G |
G |
G |
| 62152007 |
G |
G |
G |
G |
A |
A |
|
68671284 |
T |
T |
C |
T |
T |
T |
T |
C |
C |
C |
| 62163783 |
C |
T |
T |
T |
C |
T |
|
68671292 |
G |
A |
G |
A |
A |
G |
G |
G |
G |
G |
| 62166939 |
C |
C |
C |
T |
T |
T |
|
68680635 |
A |
G |
A |
G |
G |
G |
A |
G |
G |
A |
| |
|
|
|
|
|
|
|
68698265 |
C |
C |
C |
C |
G |
G |
C |
C |
G |
C |
| CEP290 |
1 |
2 |
3 |
4 |
|
|
|
RAB11B |
1 |
2 |
3 |
4 |
5 |
6 |
7 |
|
|
|
| chr15:29199693 |
G |
G |
G |
C |
|
|
|
chr20:52957965 |
C |
C |
C |
C |
G |
C |
A |
|
|
|
| 29220545 |
G |
G |
A |
A |
|
|
|
52960719 |
C |
C |
C |
C |
C |
G |
G |
|
|
|
| 29228039 |
T |
T |
C |
C |
|
|
|
52963299 |
T |
T |
C |
C |
T |
C |
T |
|
|
|
| 29247843 |
A |
G |
A |
A |
|
|
|
52965822 |
G |
A |
G |
A |
G |
G |
G |
|
|
|
| 29265700 |
T |
T |
C |
C |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 29279083 |
G |
G |
A |
A |
|
|
|
|
|
|
|
|
|
|
|
|
|
|