NM_000328.3(RPGR):c.2241+11T>C
|
rs4084271
|
0.20121
|
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)
|
rs1801686
|
0.11812
|
NM_000328.3(RPGR):c.2149+46C>T
|
rs41312110
|
0.03703
|
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)
|
rs111631988
|
0.03363
|
NM_001034853.2(RPGR):c.552G>T (p.Gln184His)
|
rs5963403
|
0.02128
|
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)
|
rs151247357
|
0.00794
|
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=)
|
rs1446705794
|
0.00203
|
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln)
|
rs150549982
|
0.00046
|
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
|
rs768169831
|
0.00012
|
NM_001034853.2(RPGR):c.1059+363G>A
|
rs1410177435
|
0.00010
|
NM_001034853.2(RPGR):c.2543del (p.Glu848fs)
|
rs1233849070
|
0.00002
|
NM_001034853.2(RPGR):c.1059+9A>G
|
rs781086486
|
0.00001
|
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)
|
rs794727019
|
0.00001
|
NM_001034853.2(RPGR):c.2041_2042del (p.Lys681fs)
|
rs1569237670
|
0.00001
|
NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly)
|
rs1364555173
|
0.00001
|
GRCh37/hg19 Xp11.4(chrX:38144822-38164037)
|
|
|
GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0
|
|
|
GRCh38/hg38 Xp11.4(chrX:38297187-38299239)x0
|
|
|
GRCh38/hg38 Xp11.4(chrX:38301150-38301469)x0
|
|
|
NG_009553.1:g.(46900_53331)_53439del
|
|
|
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs)
|
rs2067448565
|
|
NM_001034853.2(RPGR):c.1225del (p.Arg409fs)
|
|
|
NM_001034853.2(RPGR):c.122C>A (p.Ser41Ter)
|
rs2067985937
|
|
NM_001034853.2(RPGR):c.1245+3A>G
|
rs62635002
|
|
NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)
|
|
|
NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter)
|
rs1060501181
|
|
NM_001034853.2(RPGR):c.1375_1376del (p.Val459fs)
|
rs2067404808
|
|
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs)
|
rs62653029
|
|
NM_001034853.2(RPGR):c.1379del (p.Leu460fs)
|
rs2147227522
|
|
NM_001034853.2(RPGR):c.1402_1405del (p.Pro468fs)
|
rs62653030
|
|
NM_001034853.2(RPGR):c.1415-9A>G
|
rs2067278631
|
|
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val)
|
rs2147212880
|
|
NM_001034853.2(RPGR):c.1496T>C (p.Ile499Thr)
|
|
|
NM_001034853.2(RPGR):c.1506+4del
|
rs2067276668
|
|
NM_001034853.2(RPGR):c.1512_1513del (p.Ile505fs)
|
rs281865304
|
|
NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter)
|
rs2147211363
|
|
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)
|
rs281865296
|
|
NM_001034853.2(RPGR):c.1573-2A>G
|
rs62635009
|
|
NM_001034853.2(RPGR):c.1600C>T (p.Gln534Ter)
|
|
|
NM_001034853.2(RPGR):c.1671del (p.Ala558fs)
|
rs1569238659
|
|
NM_001034853.2(RPGR):c.1711C>T (p.Gln571Ter)
|
rs2067216516
|
|
NM_001034853.2(RPGR):c.173T>A (p.Met58Lys)
|
rs2067976284
|
|
NM_001034853.2(RPGR):c.1753+2T>G
|
|
|
NM_001034853.2(RPGR):c.1754-3C>G
|
rs2147201026
|
|
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.1813G>T (p.Glu605Ter)
|
|
|
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs)
|
rs2067200470
|
|
NM_001034853.2(RPGR):c.1880C>A (p.Ser627Ter)
|
rs2147200625
|
|
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs)
|
rs2067199347
|
|
NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter)
|
rs2147290510
|
|
NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)
|
|
|
NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter)
|
rs2067196800
|
|
NM_001034853.2(RPGR):c.2008_2017del (p.Gln670fs)
|
rs2067196699
|
|
NM_001034853.2(RPGR):c.200TAGGAT[1] (p.67LG[1])
|
rs2067975228
|
|
NM_001034853.2(RPGR):c.2027_2078dup (p.Glu693_Lys694insGlyGlyGluArgGlnGlyTer)
|
rs2067193857
|
|
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter)
|
rs2067194648
|
|
NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter)
|
rs2147199844
|
|
NM_001034853.2(RPGR):c.2073_2080dup (p.Lys694fs)
|
|
|
NM_001034853.2(RPGR):c.2078_2148dup (p.Gln717delinsArgArgAsnTer)
|
rs2147199457
|
|
NM_001034853.2(RPGR):c.2098_2101del (p.Glu700fs)
|
rs2067193155
|
|
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter)
|
rs2067193056
|
|
NM_001034853.2(RPGR):c.2118_2190dup (p.Gly731fs)
|
rs2067190364
|
|
NM_001034853.2(RPGR):c.2125G>T (p.Glu709Ter)
|
rs1305342570
|
|
NM_001034853.2(RPGR):c.2138del (p.Lys713fs)
|
rs2067191635
|
|
NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter)
|
rs2147199519
|
|
NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter)
|
rs2067191335
|
|
NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)
|
|
|
NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter)
|
rs2067191154
|
|
NM_001034853.2(RPGR):c.2168_2171del (p.Arg723fs)
|
rs2067190922
|
|
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)
|
rs907856232
|
|
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)
|
rs983693027
|
|
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.2237_2238del (p.Glu746fs)
|
rs2147199015
|
|
NM_001034853.2(RPGR):c.2249_2253del (p.Glu750fs)
|
rs2067188031
|
|
NM_001034853.2(RPGR):c.2251A>T (p.Lys751Ter)
|
rs2067188111
|
|
NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs)
|
rs1475590979
|
|
NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter)
|
rs267606453
|
|
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs)
|
rs2067187618
|
|
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)
|
rs2067187550
|
|
NM_001034853.2(RPGR):c.2283_2284del (p.Glu762fs)
|
rs2067187127
|
|
NM_001034853.2(RPGR):c.2293_2297del (p.Glu765fs)
|
rs2067186762
|
|
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs)
|
rs2067186632
|
|
NM_001034853.2(RPGR):c.2321_2330del (p.Glu774fs)
|
|
|
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs)
|
rs1555961832
|
|
NM_001034853.2(RPGR):c.2327_2354del (p.Lys776fs)
|
rs2067184831
|
|
NM_001034853.2(RPGR):c.2340_2341del (p.Arg780fs)
|
rs2067185505
|
|
NM_001034853.2(RPGR):c.2340del (p.Ala781fs)
|
rs2067185564
|
|
NM_001034853.2(RPGR):c.2346del (p.Lys783fs)
|
rs1064797365
|
|
NM_001034853.2(RPGR):c.2362_2366del (p.Glu788fs)
|
rs2067184362
|
|
NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter)
|
rs2067184023
|
|
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter)
|
rs2067183876
|
|
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)
|
rs1569237206
|
|
NM_001034853.2(RPGR):c.2403_2406del (p.Glu802fs)
|
rs2067183162
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.2409_2479dup (p.Glu827delinsGlyGluGlyArgLysLysArgArgGluGlyLysTer)
|
|
|
NM_001034853.2(RPGR):c.2409del (p.Arg804fs)
|
rs2067182990
|
|
NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs)
|
rs2067182636
|
|
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter)
|
rs2067182354
|
|
NM_001034853.2(RPGR):c.2425G>T (p.Glu809Ter)
|
rs1168146969
|
|
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)
|
rs730882261
|
|
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1])
|
rs777850798
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
NM_001034853.2(RPGR):c.2447del (p.Gly816fs)
|
rs1854473658
|
|
NM_001034853.2(RPGR):c.2455_2468dup (p.Lys823_Gly824insTer)
|
rs2147197604
|
|
NM_001034853.2(RPGR):c.2457_2460del (p.Glu820fs)
|
rs2067180395
|
|
NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)
|
rs2147197584
|
|
NM_001034853.2(RPGR):c.2470_2471del (p.Gly824fs)
|
rs2067179881
|
|
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter)
|
rs2067179538
|
|
NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr)
|
rs2067974263
|
|
NM_001034853.2(RPGR):c.248-28_248-10del
|
rs1569260656
|
|
NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del)
|
|
|
NM_001034853.2(RPGR):c.2488G>T (p.Glu830Ter)
|
rs1601922510
|
|
NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs)
|
rs2067176160
|
|
NM_001034853.2(RPGR):c.2501del (p.Glu834fs)
|
rs2067178120
|
|
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs)
|
rs1569236971
|
|
NM_001034853.2(RPGR):c.2509G>T (p.Glu837Ter)
|
rs2067177281
|
|
NM_001034853.2(RPGR):c.2512del (p.Glu838fs)
|
rs2147197281
|
|
NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs)
|
rs2067176379
|
|
NM_001034853.2(RPGR):c.2517_2518del (p.Glu841fs)
|
rs1373833359
|
|
NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs)
|
rs2147197113
|
|
NM_001034853.2(RPGR):c.2526_2527del (p.Glu843fs)
|
rs2067175855
|
|
NM_001034853.2(RPGR):c.2548del (p.Glu850fs)
|
rs2067174697
|
|
NM_001034853.2(RPGR):c.2568dup (p.Lys857fs)
|
rs2067172824
|
|
NM_001034853.2(RPGR):c.2571del (p.Glu859fs)
|
rs1555961704
|
|
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.2587G>T (p.Glu863Ter)
|
rs2147196529
|
|
NM_001034853.2(RPGR):c.2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs)
|
rs2067169934
|
|
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del)
|
rs200824587
|
|
NM_001034853.2(RPGR):c.2610_2611del (p.Glu872fs)
|
|
|
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
|
|
|
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
|
|
|
NM_001034853.2(RPGR):c.2627_2648dup (p.Glu884fs)
|
rs2067164990
|
|
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs)
|
rs2067166789
|
|
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)
|
rs137852549
|
|
NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs)
|
rs2067164096
|
|
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.2691GGA[1] (p.Glu899del)
|
rs745428229
|
|
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter)
|
rs2067161139
|
|
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3])
|
rs757402645
|
|
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs)
|
rs2067160273
|
|
NM_001034853.2(RPGR):c.2731G>T (p.Glu911Ter)
|
rs2067159456
|
|
NM_001034853.2(RPGR):c.2761G>C (p.Gly921Arg)
|
rs2067157510
|
|
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs)
|
rs2067157388
|
|
NM_001034853.2(RPGR):c.2764dup (p.Glu922fs)
|
rs2067157388
|
|
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs)
|
rs1601920532
|
|
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs)
|
rs1601920423
|
|
NM_001034853.2(RPGR):c.2792del (p.Glu931fs)
|
|
|
NM_001034853.2(RPGR):c.2819_2838dup (p.Glu947fs)
|
rs2067149319
|
|
NM_001034853.2(RPGR):c.2821G>T (p.Gly941Trp)
|
rs763102799
|
|
NM_001034853.2(RPGR):c.2824del (p.Glu942fs)
|
rs1601920131
|
|
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs)
|
rs1555961509
|
|
NM_001034853.2(RPGR):c.2839del (p.Glu947fs)
|
rs1555961509
|
|
NM_001034853.2(RPGR):c.2845del (p.Glu949fs)
|
rs2067148119
|
|
NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)
|
|
|
NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter)
|
rs2067146202
|
|
NM_001034853.2(RPGR):c.2867del (p.Glu956fs)
|
rs2067146007
|
|
NM_001034853.2(RPGR):c.2892_2893del (p.Glu965fs)
|
rs2067144007
|
|
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs)
|
rs1569235999
|
|
NM_001034853.2(RPGR):c.29-2A>G
|
rs2147291936
|
|
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs)
|
rs2067140574
|
|
NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter)
|
rs2067140471
|
|
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3])
|
rs772859148
|
|
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter)
|
rs137852551
|
|
NM_001034853.2(RPGR):c.2930G>T (p.Gly977Val)
|
rs1234506102
|
|
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)
|
rs2067138439
|
|
NM_001034853.2(RPGR):c.2937_2953del (p.Glu980fs)
|
rs2067136586
|
|
NM_001034853.2(RPGR):c.2938_2959dup (p.Glu987fs)
|
rs2067136009
|
|
NM_001034853.2(RPGR):c.2939del (p.Glu980fs)
|
|
|
NM_001034853.2(RPGR):c.2945_2964del (p.Glu982fs)
|
rs2067135227
|
|
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)
|
rs1555961440
|
|
NM_001034853.2(RPGR):c.2966del (p.Glu989fs)
|
rs2067134850
|
|
NM_001034853.2(RPGR):c.296C>A (p.Thr99Asn)
|
rs62638637
|
|
NM_001034853.2(RPGR):c.2971del (p.Glu991fs)
|
rs2067134254
|
|
NM_001034853.2(RPGR):c.2993_2996del (p.Glu998fs)
|
rs1569235677
|
|
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs)
|
rs1569235565
|
|
NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)
|
|
|
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs)
|
rs2067127718
|
|
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.3097dup (p.Glu1033fs)
|
rs606231180
|
|
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)
|
rs1601917999
|
|
NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter)
|
rs866524368
|
|
NM_001034853.2(RPGR):c.310G>A (p.Glu104Lys)
|
rs1601978823
|
|
NM_001034853.2(RPGR):c.311-1G>A
|
|
|
NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter)
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rs2067118339
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NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs)
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rs771214648
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NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter)
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rs2147190626
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NM_001034853.2(RPGR):c.3198_3214dup (p.Thr1072fs)
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NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs)
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rs2147190484
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NM_001034853.2(RPGR):c.3208C>T (p.Gln1070Ter)
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NM_001034853.2(RPGR):c.3221_3225del (p.Glu1074fs)
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NM_001034853.2(RPGR):c.322_324del (p.Val108del)
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rs2067878524
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NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)
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NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer)
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rs2067115815
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NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs)
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rs2067114709
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NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)
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rs886041376
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NM_001034853.2(RPGR):c.3364del (p.Met1122fs)
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NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys)
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rs2067111489
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NM_001034853.2(RPGR):c.350G>T (p.Gly117Val)
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NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys)
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rs62638644
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NM_001034853.2(RPGR):c.40G>A (p.Val14Met)
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NM_001034853.2(RPGR):c.423del (p.Ile142fs)
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rs1569258901
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NM_001034853.2(RPGR):c.457G>A (p.Ala153Thr)
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rs2067875526
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NM_001034853.2(RPGR):c.469_469+5del
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rs2067875112
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NM_001034853.2(RPGR):c.470-13T>G
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NM_001034853.2(RPGR):c.470-73_619+1581del
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NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)
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rs281865297
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NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp)
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rs1601972449
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NM_001034853.2(RPGR):c.544_545del (p.Val182fs)
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rs2147276819
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NM_001034853.2(RPGR):c.547C>T (p.Pro183Ser)
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|
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NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)
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rs1601972255
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NM_001034853.2(RPGR):c.619+2T>A
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rs2067844613
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NM_001034853.2(RPGR):c.619+4A>G
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rs2067844549
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NM_001034853.2(RPGR):c.665T>G (p.Leu222Ter)
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rs2147261937
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NM_001034853.2(RPGR):c.665del (p.Lys221_Leu222insTer)
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NM_001034853.2(RPGR):c.703C>T (p.Pro235Ser)
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rs62638651
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NM_001034853.2(RPGR):c.736_745dup (p.Ala249fs)
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rs2147261738
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NM_001034853.2(RPGR):c.778+1del
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rs2147261624
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NM_001034853.2(RPGR):c.778+3A>T
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rs1218824822
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NM_001034853.2(RPGR):c.779-2A>G
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rs2147248124
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NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)
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rs62642057
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NM_001034853.2(RPGR):c.843dup (p.Glu282Ter)
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|
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NM_001034853.2(RPGR):c.897T>A (p.Tyr299Ter)
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rs2147247751
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NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg)
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rs62640589
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NM_001034853.2(RPGR):c.919del (p.Thr307fs)
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rs1601951595
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NM_001034853.2(RPGR):c.920C>A (p.Thr307Lys)
|
rs2147247612
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NM_001034853.2(RPGR):c.934+2T>C
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rs2147247534
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NM_001034853.2(RPGR):c.983del (p.Gly328fs)
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rs1555965107
|
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