1 |
27485 |
Switzerland |
adRP |
RHO |
136880 |
NM_000539.3:c.170T>G:p.Leu57Arg |
Ex 1 |
- |
Heterozygous |
Deleterious |
Probably Damaging (0.991) |
Disease causing |
Bad |
C0 |
Sullivan (2006) Invest Ophthalmol Vis Sci 47: 3052 |
2 |
23880 |
Switzerland |
adRP |
PRPF8 |
600059 |
NM_006445.3:c.7000dup:p.Tyr2334Leufs*51 |
Ex 43 |
- |
Heterozygous |
NA |
NA |
NA |
NA |
NA |
This study |
3 |
27536 |
Turkey |
arRP DD: LCA |
RPGRIP1 |
613826 |
NM_020366.3:c.2890del:p.Ser964Profs*37 |
Ex 17 |
- |
Homozygous |
NA |
NA |
NA |
NA |
NA |
This study |
4 |
24718 |
Switzerland |
arCRD |
BEST1 |
611809 |
NM_001139443.1:c.242G>A:p.Arg81His |
Ex 3 |
0.00012 |
Homozygous |
Deleterious |
Probably Damaging (1.0) |
Disease causing |
Good |
C0 |
Krämer (2000) Eur J Hum Genet 8: 286 |
5 |
26165 |
Switzerland |
adRP |
RP1 |
180100 |
NM_006269.1:c.2613dup:p.R872Tfs*2 |
Ex 4 |
- |
Heterozygous |
NA |
NA |
NA |
NA |
NA |
Payne (2000) Invest Ophthalmol Vis Sci 41: 4069 |
6 |
25900 |
Switzerland |
adRP |
RP1 |
180100 |
NM_006269.1:c.2613dup:p.R872Tfs*2 |
Ex 4 |
- |
Heterozygous |
NA |
NA |
NA |
NA |
NA |
Payne (2000) Invest Ophthalmol Vis Sci 41: 4069 |
7 |
26007 |
Switzerland |
arRP |
CDHR1 |
613660 |
NM_033100.2:c.398C>G:p.Pro133Arg& NM_033100.2:c.439-17G>A |
Ex 5 & Int 5 |
- & 0.00002 |
Compound heterozygous |
Deleterious & NA |
Probably Damaging (1.0) & NA |
Disease causing & NA |
Bad & NA |
C0 & NA |
This study |
8 |
23530 |
Switzerland |
adRP |
PRPF31 |
600138 |
NM_015629.3:c.548_580dup:p.Glu183_Met193dup |
Ex 7 |
- |
Heterozygous |
NA |
NA |
NA |
NA |
NA |
This study |
9 |
22538 |
Switzerland |
arCRD |
- |
- |
Not yet identified |
- |
- |
- |
- |
- |
- |
- |
- |
- |
10 |
26309 |
Switzerland |
adRP |
- |
- |
Not yet identified |
- |
- |
- |
- |
- |
- |
- |
- |
- |
11 |
23609 |
Switzerland |
arRP |
- |
- |
Not yet identified |
- |
- |
- |
- |
- |
- |
- |
- |
- |