NM_001034853.2(RPGR):c.2543del (p.Glu848fs)
|
rs1233849070
|
0.00002
|
NC_000023.10:g.(?_38132619)_(38164063_?)del
|
|
|
NC_000023.10:g.(?_38150626)_(38150757_?)del
|
|
|
NC_000023.10:g.(?_38160137)_(38160644_?)del
|
|
|
NC_000023.10:g.(?_38182086)_(38182797_?)del
|
|
|
NC_000023.10:g.(?_38186573)_(38186620_?)del
|
|
|
NM_001034853.2(RPGR):c.101_102insC (p.Asn34_Asp35insTer)
|
|
|
NM_001034853.2(RPGR):c.101del (p.Asn34fs)
|
rs281865295
|
|
NM_001034853.2(RPGR):c.1062dup (p.Ala355fs)
|
|
|
NM_001034853.2(RPGR):c.1068T>A (p.Cys356Ter)
|
|
|
NM_001034853.2(RPGR):c.1086_1107dup (p.Gly370fs)
|
|
|
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs)
|
rs281865301
|
|
NM_001034853.2(RPGR):c.110_122del (p.Pro37fs)
|
|
|
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)
|
rs62635001
|
|
NM_001034853.2(RPGR):c.1126G>T (p.Glu376Ter)
|
rs2067451355
|
|
NM_001034853.2(RPGR):c.1169_1170del (p.Phe390fs)
|
|
|
NM_001034853.2(RPGR):c.1206_1215del (p.Gln403fs)
|
|
|
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs)
|
rs2067448565
|
|
NM_001034853.2(RPGR):c.1217_1218insTT (p.Ser407fs)
|
|
|
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs)
|
rs1601943325
|
|
NM_001034853.2(RPGR):c.1220C>A (p.Ser407Ter)
|
rs772201779
|
|
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)
|
rs1601943268
|
|
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs)
|
rs281865302
|
|
NM_001034853.2(RPGR):c.1245+1G>T
|
|
|
NM_001034853.2(RPGR):c.1245+3A>G
|
rs62635002
|
|
NM_001034853.2(RPGR):c.1251del (p.Arg417fs)
|
|
|
NM_001034853.2(RPGR):c.1315del (p.Ala439fs)
|
|
|
NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter)
|
rs2067406342
|
|
NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter)
|
rs1060501181
|
|
NM_001034853.2(RPGR):c.1372_1373del (p.Ser458fs)
|
rs1555964133
|
|
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs)
|
rs62653029
|
|
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter)
|
rs886044302
|
|
NM_001034853.2(RPGR):c.139dup (p.Ser47fs)
|
|
|
NM_001034853.2(RPGR):c.1505dup (p.Met502fs)
|
|
|
NM_001034853.2(RPGR):c.1512_1513del (p.Ile505fs)
|
rs281865304
|
|
NM_001034853.2(RPGR):c.1534G>T (p.Glu512Ter)
|
|
|
NM_001034853.2(RPGR):c.1548del (p.Lys516fs)
|
|
|
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)
|
rs281865296
|
|
NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter)
|
rs281865296
|
|
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
|
|
|
NM_001034853.2(RPGR):c.1572+1G>A
|
rs1601931052
|
|
NM_001034853.2(RPGR):c.1573-1G>A
|
rs62635010
|
|
NM_001034853.2(RPGR):c.1573-2A>G
|
rs62635009
|
|
NM_001034853.2(RPGR):c.1579C>T (p.Gln527Ter)
|
|
|
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs)
|
rs2147203790
|
|
NM_001034853.2(RPGR):c.1591G>T (p.Glu531Ter)
|
|
|
NM_001034853.2(RPGR):c.1600C>T (p.Gln534Ter)
|
|
|
NM_001034853.2(RPGR):c.1606dup (p.Thr536fs)
|
|
|
NM_001034853.2(RPGR):c.1617del (p.Glu540fs)
|
|
|
NM_001034853.2(RPGR):c.1649del (p.Met550fs)
|
|
|
NM_001034853.2(RPGR):c.1693C>T (p.Gln565Ter)
|
|
|
NM_001034853.2(RPGR):c.1728_1735del (p.Glu577fs)
|
|
|
NM_001034853.2(RPGR):c.1747G>T (p.Glu583Ter)
|
rs62635013
|
|
NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter)
|
rs2067202860
|
|
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)
|
rs62638634
|
|
NM_001034853.2(RPGR):c.1807_1819dup (p.Glu607fs)
|
|
|
NM_001034853.2(RPGR):c.1810C>T (p.Gln604Ter)
|
|
|
NM_001034853.2(RPGR):c.183dup (p.Asn62Ter)
|
rs2067976030
|
|
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs)
|
rs2067200470
|
|
NM_001034853.2(RPGR):c.1881dup (p.Asp628fs)
|
|
|
NM_001034853.2(RPGR):c.189del (p.Trp64fs)
|
|
|
NM_001034853.2(RPGR):c.1919del (p.Lys640fs)
|
|
|
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)
|
rs1601982532
|
|
NM_001034853.2(RPGR):c.1952dup (p.Pro651_Glu652insTer)
|
|
|
NM_001034853.2(RPGR):c.1956del (p.Gly653fs)
|
|
|
NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter)
|
rs2067196800
|
|
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
|
|
|
NM_001034853.2(RPGR):c.2048dup (p.Gly684fs)
|
|
|
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter)
|
rs2067194648
|
|
NM_001034853.2(RPGR):c.2070del (p.Glu691fs)
|
rs1601924055
|
|
NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter)
|
rs2147199844
|
|
NM_001034853.2(RPGR):c.2099_2138dup (p.Glu714fs)
|
|
|
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter)
|
rs2067193056
|
|
NM_001034853.2(RPGR):c.2140del (p.Glu714fs)
|
|
|
NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter)
|
rs2067191335
|
|
NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)
|
|
|
NM_001034853.2(RPGR):c.2167A>T (p.Arg723Ter)
|
|
|
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)
|
rs907856232
|
|
NM_001034853.2(RPGR):c.2194del (p.Glu732fs)
|
|
|
NM_001034853.2(RPGR):c.219del (p.Ala74fs)
|
rs1601982474
|
|
NM_001034853.2(RPGR):c.2212G>T (p.Gly738Ter)
|
|
|
NM_001034853.2(RPGR):c.2215G>T (p.Glu739Ter)
|
|
|
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)
|
rs983693027
|
|
NM_001034853.2(RPGR):c.2219_2223del (p.Glu740fs)
|
|
|
NM_001034853.2(RPGR):c.2229dup (p.Asp744fs)
|
|
|
NM_001034853.2(RPGR):c.2232_2235del (p.Asp744fs)
|
|
|
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs)
|
rs1555961852
|
|
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)
|
rs1555961852
|
|
NM_001034853.2(RPGR):c.2245del (p.Glu749fs)
|
|
|
NM_001034853.2(RPGR):c.2248G>T (p.Glu750Ter)
|
|
|
NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs)
|
rs1475590979
|
|
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs)
|
rs2067187618
|
|
NM_001034853.2(RPGR):c.2270_2271del (p.Glu757fs)
|
|
|
NM_001034853.2(RPGR):c.2278G>T (p.Glu760Ter)
|
|
|
NM_001034853.2(RPGR):c.2284del (p.Glu762fs)
|
|
|
NM_001034853.2(RPGR):c.2293G>T (p.Glu765Ter)
|
rs2147198765
|
|
NM_001034853.2(RPGR):c.2293_2305del (p.Glu765fs)
|
|
|
NM_001034853.2(RPGR):c.2311_2314del (p.Glu771fs)
|
|
|
NM_001034853.2(RPGR):c.2320G>T (p.Glu774Ter)
|
|
|
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs)
|
rs1555961832
|
|
NM_001034853.2(RPGR):c.2333del (p.Glu778fs)
|
|
|
NM_001034853.2(RPGR):c.2336_2337insTC (p.Glu779fs)
|
|
|
NM_001034853.2(RPGR):c.2350_2368del (p.Glu784fs)
|
|
|
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
|
|
|
NM_001034853.2(RPGR):c.2360del (p.Gly787fs)
|
|
|
NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter)
|
rs2067184023
|
|
NM_001034853.2(RPGR):c.2384_2385del (p.Glu795fs)
|
|
|
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)
|
rs1569237206
|
|
NM_001034853.2(RPGR):c.2390_2408del (p.Glu797fs)
|
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs)
|
rs2067182636
|
|
NM_001034853.2(RPGR):c.2412_2418del (p.Gly805fs)
|
|
|
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter)
|
rs2067182354
|
|
NM_001034853.2(RPGR):c.2424del (p.Glu809fs)
|
|
|
NM_001034853.2(RPGR):c.2424dup (p.Glu809fs)
|
|
|
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)
|
rs730882261
|
|
NM_001034853.2(RPGR):c.2433_2436del (p.Gly812fs)
|
|
|
NM_001034853.2(RPGR):c.2433del (p.Glu813fs)
|
|
|
NM_001034853.2(RPGR):c.2437G>T (p.Glu813Ter)
|
|
|
NM_001034853.2(RPGR):c.2440_2468del (p.Val814fs)
|
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
NM_001034853.2(RPGR):c.2455_2468del (p.Val819fs)
|
|
|
NM_001034853.2(RPGR):c.2457dup (p.Glu820fs)
|
|
|
NM_001034853.2(RPGR):c.2469del (p.Gly824fs)
|
|
|
NM_001034853.2(RPGR):c.247+2T>C
|
|
|
NM_001034853.2(RPGR):c.247+5G>A
|
rs2067974156
|
|
NM_001034853.2(RPGR):c.2471del (p.Gly824fs)
|
|
|
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs)
|
rs2067179633
|
|
NM_001034853.2(RPGR):c.248-1G>A
|
|
|
NM_001034853.2(RPGR):c.248-1G>T
|
|
|
NM_001034853.2(RPGR):c.2482G>T (p.Glu828Ter)
|
|
|
NM_001034853.2(RPGR):c.2485G>T (p.Glu829Ter)
|
|
|
NM_001034853.2(RPGR):c.2494del (p.Glu832fs)
|
|
|
NM_001034853.2(RPGR):c.2501_2502del (p.Glu834fs)
|
|
|
NM_001034853.2(RPGR):c.2501del (p.Glu834fs)
|
rs2067178120
|
|
NM_001034853.2(RPGR):c.2506del (p.Glu836fs)
|
|
|
NM_001034853.2(RPGR):c.2509G>T (p.Glu837Ter)
|
rs2067177281
|
|
NM_001034853.2(RPGR):c.2522_2543del (p.Glu841fs)
|
|
|
NM_001034853.2(RPGR):c.2522del (p.Glu841fs)
|
rs1601922202
|
|
NM_001034853.2(RPGR):c.2527del (p.Glu843fs)
|
|
|
NM_001034853.2(RPGR):c.2548del (p.Glu850fs)
|
rs2067174697
|
|
NM_001034853.2(RPGR):c.255del (p.Lys85fs)
|
rs1555968248
|
|
NM_001034853.2(RPGR):c.2568dup (p.Lys857fs)
|
rs2067172824
|
|
NM_001034853.2(RPGR):c.2569_2570insG (p.Lys857fs)
|
|
|
NM_001034853.2(RPGR):c.2571_2572del (p.Glu859fs)
|
rs2067172385
|
|
NM_001034853.2(RPGR):c.2571del (p.Glu859fs)
|
rs1555961704
|
|
NM_001034853.2(RPGR):c.2574_2575del (p.Glu859fs)
|
|
|
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs)
|
rs2067169934
|
|
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)
|
rs1555961677
|
|
NM_001034853.2(RPGR):c.2613_2614del (p.Glu872fs)
|
|
|
NM_001034853.2(RPGR):c.2614G>T (p.Glu872Ter)
|
|
|
NM_001034853.2(RPGR):c.2617G>T (p.Glu873Ter)
|
|
|
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
|
|
|
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs)
|
rs2067166789
|
|
NM_001034853.2(RPGR):c.2630del (p.Glu877fs)
|
|
|
NM_001034853.2(RPGR):c.2635del (p.Glu879fs)
|
|
|
NM_001034853.2(RPGR):c.2644G>T (p.Glu882Ter)
|
|
|
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)
|
rs137852549
|
|
NM_001034853.2(RPGR):c.2665G>T (p.Glu889Ter)
|
rs2067163605
|
|
NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs)
|
rs2147195624
|
|
NM_001034853.2(RPGR):c.2692G>T (p.Glu898Ter)
|
|
|
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter)
|
rs2067161139
|
|
NM_001034853.2(RPGR):c.2706_2707del (p.Glu903fs)
|
|
|
NM_001034853.2(RPGR):c.2710_2713del (p.Gly904fs)
|
|
|
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs)
|
rs2067160273
|
|
NM_001034853.2(RPGR):c.2716G>T (p.Glu906Ter)
|
|
|
NM_001034853.2(RPGR):c.2730_2731dup (p.Glu911fs)
|
|
|
NM_001034853.2(RPGR):c.2750del (p.Gly917fs)
|
|
|
NM_001034853.2(RPGR):c.2752G>T (p.Glu918Ter)
|
|
|
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs)
|
rs2067157388
|
|
NM_001034853.2(RPGR):c.2764G>T (p.Glu922Ter)
|
|
|
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs)
|
rs1601920532
|
|
NM_001034853.2(RPGR):c.2782G>T (p.Gly928Ter)
|
|
|
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs)
|
rs1601920423
|
|
NM_001034853.2(RPGR):c.2791del (p.Glu931fs)
|
|
|
NM_001034853.2(RPGR):c.2792del (p.Glu931fs)
|
|
|
NM_001034853.2(RPGR):c.2803G>T (p.Glu935Ter)
|
|
|
NM_001034853.2(RPGR):c.2819_2837dup (p.Glu947fs)
|
|
|
NM_001034853.2(RPGR):c.2825_2970del (p.Glu942fs)
|
|
|
NM_001034853.2(RPGR):c.282_283del (p.Cys94fs)
|
|
|
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs)
|
rs1555961509
|
|
NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGGG (p.Glu950fs)
|
|
|
NM_001034853.2(RPGR):c.2845G>T (p.Glu949Ter)
|
|
|
NM_001034853.2(RPGR):c.2845del (p.Glu949fs)
|
rs2067148119
|
|
NM_001034853.2(RPGR):c.2851_2854dup (p.Glu952fs)
|
|
|
NM_001034853.2(RPGR):c.2854G>T (p.Glu952Ter)
|
|
|
NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter)
|
rs2067146202
|
|
NM_001034853.2(RPGR):c.2867del (p.Glu956fs)
|
rs2067146007
|
|
NM_001034853.2(RPGR):c.2873_2874insGGATGGAGGAAGGAGAAGGGGAAGGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGA (p.Glu959fs)
|
|
|
NM_001034853.2(RPGR):c.2878G>T (p.Glu960Ter)
|
|
|
NM_001034853.2(RPGR):c.2893G>T (p.Glu965Ter)
|
rs1420285326
|
|
NM_001034853.2(RPGR):c.2894del (p.Glu965fs)
|
rs2147193654
|
|
NM_001034853.2(RPGR):c.2910_2914del (p.Glu971fs)
|
|
|
NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter)
|
rs2067140471
|
|
NM_001034853.2(RPGR):c.2923dup (p.Glu975fs)
|
|
|
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)
|
rs2067138439
|
|
NM_001034853.2(RPGR):c.2939del (p.Glu980fs)
|
|
|
NM_001034853.2(RPGR):c.2944del (p.Glu982fs)
|
|
|
NM_001034853.2(RPGR):c.2953G>T (p.Glu985Ter)
|
|
|
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)
|
rs1555961440
|
|
NM_001034853.2(RPGR):c.2965G>T (p.Glu989Ter)
|
|
|
NM_001034853.2(RPGR):c.2966del (p.Glu989fs)
|
rs2067134850
|
|
NM_001034853.2(RPGR):c.2971del (p.Glu991fs)
|
rs2067134254
|
|
NM_001034853.2(RPGR):c.2992G>T (p.Glu998Ter)
|
|
|
NM_001034853.2(RPGR):c.2993_2997del (p.Glu998fs)
|
|
|
NM_001034853.2(RPGR):c.2994del (p.Glu1000fs)
|
|
|
NM_001034853.2(RPGR):c.2997_2998del (p.Glu1000fs)
|
|
|
NM_001034853.2(RPGR):c.3007_3008del (p.Gly1003fs)
|
|
|
NM_001034853.2(RPGR):c.3007_3010del (p.Gly1003fs)
|
|
|
NM_001034853.2(RPGR):c.3017_3018del (p.Glu1006fs)
|
|
|
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs)
|
rs1569235565
|
|
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs)
|
rs2067127718
|
|
NM_001034853.2(RPGR):c.3040del (p.Glu1014fs)
|
|
|
NM_001034853.2(RPGR):c.305C>G (p.Ser102Ter)
|
|
|
NM_001034853.2(RPGR):c.3081_3082del (p.Glu1028fs)
|
rs1601918140
|
|
NM_001034853.2(RPGR):c.3082G>T (p.Glu1028Ter)
|
|
|
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)
|
rs606231181
|
|
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)
|
rs1186795749
|
|
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)
|
rs606231180
|
|
NM_001034853.2(RPGR):c.3097del (p.Glu1033fs)
|
|
|
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)
|
rs1601917999
|
|
NM_001034853.2(RPGR):c.3106del (p.Glu1036fs)
|
|
|
NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter)
|
rs866524368
|
|
NM_001034853.2(RPGR):c.3133G>T (p.Glu1045Ter)
|
|
|
NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter)
|
rs2067118339
|
|
NM_001034853.2(RPGR):c.3166_3167del (p.Arg1056fs)
|
|
|
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs)
|
rs771214648
|
|
NM_001034853.2(RPGR):c.3197_3198del (p.Glu1066fs)
|
|
|
NM_001034853.2(RPGR):c.3220G>T (p.Glu1074Ter)
|
|
|
NM_001034853.2(RPGR):c.3248_3252del (p.Glu1083fs)
|
|
|
NM_001034853.2(RPGR):c.3250G>T (p.Glu1084Ter)
|
|
|
NM_001034853.2(RPGR):c.3255C>A (p.Tyr1085Ter)
|
|
|
NM_001034853.2(RPGR):c.327dup (p.Ala110fs)
|
rs2067878443
|
|
NM_001034853.2(RPGR):c.3313A>T (p.Lys1105Ter)
|
|
|
NM_001034853.2(RPGR):c.3316_3319del (p.Lys1106fs)
|
|
|
NM_001034853.2(RPGR):c.3317del (p.Lys1106fs)
|
|
|
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)
|
rs886041376
|
|
NM_001034853.2(RPGR):c.3348del (p.Glu1117fs)
|
|
|
NM_001034853.2(RPGR):c.335G>A (p.Gly112Asp)
|
rs2067878321
|
|
NM_001034853.2(RPGR):c.335del (p.Gly112fs)
|
|
|
NM_001034853.2(RPGR):c.3364dup (p.Met1122fs)
|
|
|
NM_001034853.2(RPGR):c.3389del (p.Leu1129_Leu1130insTer)
|
|
|
NM_001034853.2(RPGR):c.349_350insA (p.Gly117fs)
|
|
|
NM_001034853.2(RPGR):c.350G>A (p.Gly117Glu)
|
|
|
NM_001034853.2(RPGR):c.372del (p.Glu125fs)
|
rs62638642
|
|
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)
|
rs62638643
|
|
NM_001034853.2(RPGR):c.41dup (p.Phe15fs)
|
|
|
NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)
|
|
|
NM_001034853.2(RPGR):c.442G>C (p.Gly148Arg)
|
|
|
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.501T>A (p.Asn167Lys)
|
rs2147276925
|
|
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)
|
rs369037463
|
|
NM_001034853.2(RPGR):c.536del (p.Asn179fs)
|
|
|
NM_001034853.2(RPGR):c.550C>T (p.Gln184Ter)
|
|
|
NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter)
|
rs62650216
|
|
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter)
|
rs62638652
|
|
NM_001034853.2(RPGR):c.718G>T (p.Glu240Ter)
|
|
|
NM_001034853.2(RPGR):c.739C>T (p.Gln247Ter)
|
|
|
NM_001034853.2(RPGR):c.752G>A (p.Gly251Asp)
|
rs1555966699
|
|
NM_001034853.2(RPGR):c.778+1G>A
|
|
|
NM_001034853.2(RPGR):c.792dup (p.Thr265fs)
|
|
|
NM_001034853.2(RPGR):c.793_794dup (p.Phe266fs)
|
|
|
NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu)
|
rs398123336
|
|
NM_001034853.2(RPGR):c.815G>T (p.Gly272Val)
|
|
|
NM_001034853.2(RPGR):c.81del (p.Gly28fs)
|
|
|
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)
|
rs62642057
|
|
NM_001034853.2(RPGR):c.823G>C (p.Gly275Arg)
|
rs62642057
|
|
NM_001034853.2(RPGR):c.823G>T (p.Gly275Cys)
|
|
|
NM_001034853.2(RPGR):c.837del (p.Leu280fs)
|
rs62640586
|
|
NM_001034853.2(RPGR):c.838_842del (p.Phe279_Leu280insTer)
|
|
|
NM_001034853.2(RPGR):c.869del (p.Glu290fs)
|
rs62640588
|
|
NM_001034853.2(RPGR):c.934+1G>C
|
rs62640592
|
|
NM_001034853.2(RPGR):c.935-2A>G
|
rs2067498092
|
|
NM_001034853.2(RPGR):c.93G>A (p.Trp31Ter)
|
|
|
NM_001034853.2(RPGR):c.97A>T (p.Lys33Ter)
|
|
|