NM_001034853.2(RPGR):c.2041_2042del (p.Lys681fs)
|
rs1569237670
|
0.00001
|
NM_000328.3(RPGR):c.1906-2A>G
|
|
|
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs)
|
rs1601892395
|
|
NM_001034853.2(RPGR):c.1015dup (p.Ile339fs)
|
|
|
NM_001034853.2(RPGR):c.1040del (p.Phe346_Leu347insTer)
|
|
|
NM_001034853.2(RPGR):c.1040dup (p.Leu347fs)
|
rs2147238438
|
|
NM_001034853.2(RPGR):c.1048A>G (p.Ile350Val)
|
|
|
NM_001034853.2(RPGR):c.1059+1del
|
rs2147238385
|
|
NM_001034853.2(RPGR):c.1060-2A>G
|
rs2067453631
|
|
NM_001034853.2(RPGR):c.1077T>A (p.Cys359Ter)
|
|
|
NM_001034853.2(RPGR):c.1084_1087dup (p.Val363fs)
|
rs527236109
|
|
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.1135G>T (p.Glu379Ter)
|
|
|
NM_001034853.2(RPGR):c.114dup (p.His39fs)
|
rs2147291671
|
|
NM_001034853.2(RPGR):c.1159del (p.Val387fs)
|
|
|
NM_001034853.2(RPGR):c.1170del (p.Leu391fs)
|
rs2067449854
|
|
NM_001034853.2(RPGR):c.1179T>G (p.Tyr393Ter)
|
rs1601943462
|
|
NM_001034853.2(RPGR):c.119_122del (p.Leu40fs)
|
|
|
NM_001034853.2(RPGR):c.1225del (p.Arg409fs)
|
|
|
NM_001034853.2(RPGR):c.122C>A (p.Ser41Ter)
|
rs2067985937
|
|
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)
|
rs1601943268
|
|
NM_001034853.2(RPGR):c.1236_1239del (p.Glu414fs)
|
rs1601943227
|
|
NM_001034853.2(RPGR):c.1237A>T (p.Arg413Ter)
|
rs771039023
|
|
NM_001034853.2(RPGR):c.1245+1G>A
|
rs2147232242
|
|
NM_001034853.2(RPGR):c.1245+3A>G
|
rs62635002
|
|
NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp)
|
rs1555968526
|
|
NM_001034853.2(RPGR):c.127G>A (p.Gly43Arg)
|
rs62638629
|
|
NM_001034853.2(RPGR):c.128dup (p.Asp44fs)
|
rs2067985696
|
|
NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)
|
|
|
NM_001034853.2(RPGR):c.1304_1305del (p.Leu435fs)
|
|
|
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter)
|
rs1555968524
|
|
NM_001034853.2(RPGR):c.1374dup (p.Val459fs)
|
|
|
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.1393del (p.Leu465fs)
|
rs1555964122
|
|
NM_001034853.2(RPGR):c.1414+1G>A
|
|
|
NM_001034853.2(RPGR):c.1414+1G>C
|
|
|
NM_001034853.2(RPGR):c.1415-9A>G
|
rs2067278631
|
|
NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter)
|
rs1555962965
|
|
NM_001034853.2(RPGR):c.1491del (p.Asp498fs)
|
rs2067277129
|
|
NM_001034853.2(RPGR):c.1519del (p.Ser507fs)
|
|
|
NM_001034853.2(RPGR):c.1534G>T (p.Glu512Ter)
|
|
|
NM_001034853.2(RPGR):c.1538del (p.Lys513fs)
|
rs2067267431
|
|
NM_001034853.2(RPGR):c.155-1G>A
|
rs1601982595
|
|
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
|
|
|
NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter)
|
|
|
NM_001034853.2(RPGR):c.1573-12A>G
|
rs2067221066
|
|
NM_001034853.2(RPGR):c.1573-2del
|
|
|
NM_001034853.2(RPGR):c.1573-3C>G
|
rs1601926845
|
|
NM_001034853.2(RPGR):c.1573-8A>G
|
rs62635011
|
|
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs)
|
rs2147203790
|
|
NM_001034853.2(RPGR):c.1587del (p.Ile529fs)
|
|
|
NM_001034853.2(RPGR):c.159_160insTAA (p.Asn54Ter)
|
|
|
NM_001034853.2(RPGR):c.1642G>T (p.Glu548Ter)
|
|
|
NM_001034853.2(RPGR):c.1651dup (p.Ser551fs)
|
|
|
NM_001034853.2(RPGR):c.1663G>T (p.Glu555Ter)
|
rs2067218363
|
|
NM_001034853.2(RPGR):c.1677T>A (p.Cys559Ter)
|
rs2067217874
|
|
NM_001034853.2(RPGR):c.168_169del (p.Tyr57fs)
|
rs2067976665
|
|
NM_001034853.2(RPGR):c.1691dup (p.Gln565fs)
|
rs2067217398
|
|
NM_001034853.2(RPGR):c.1711C>T (p.Gln571Ter)
|
rs2067216516
|
|
NM_001034853.2(RPGR):c.1721_1722insAT (p.Thr574_Thr575insTer)
|
|
|
NM_001034853.2(RPGR):c.1724_1725insGCATGAAGCAT (p.Ile576fs)
|
|
|
NM_001034853.2(RPGR):c.1731dup (p.Ala578fs)
|
rs1601926125
|
|
NM_001034853.2(RPGR):c.173T>A (p.Met58Lys)
|
rs2067976284
|
|
NM_001034853.2(RPGR):c.1753+2T>G
|
|
|
NM_001034853.2(RPGR):c.1754-214_1801del
|
|
|
NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter)
|
rs2067202860
|
|
NM_001034853.2(RPGR):c.178G>A (p.Gly60Ser)
|
rs2147290553
|
|
NM_001034853.2(RPGR):c.1807del (p.Glu603fs)
|
|
|
NM_001034853.2(RPGR):c.1813G>T (p.Glu605Ter)
|
|
|
NM_001034853.2(RPGR):c.1819_1820dup (p.Ala608fs)
|
|
|
NM_001034853.2(RPGR):c.1840_1843dup (p.Val615fs)
|
rs2067201139
|
|
NM_001034853.2(RPGR):c.1843del (p.Val615fs)
|
|
|
NM_001034853.2(RPGR):c.1880C>A (p.Ser627Ter)
|
rs2147200625
|
|
NM_001034853.2(RPGR):c.1881dup (p.Asp628fs)
|
|
|
NM_001034853.2(RPGR):c.1894_1897del (p.Asp632fs)
|
rs1555961964
|
|
NM_001034853.2(RPGR):c.1906G>A (p.Val636Met)
|
|
|
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs)
|
rs2067199347
|
|
NM_001034853.2(RPGR):c.1938_1939insAGAGG (p.Ala647fs)
|
|
|
NM_001034853.2(RPGR):c.193G>C (p.Gly65Arg)
|
rs2067975926
|
|
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)
|
rs1601982532
|
|
NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter)
|
rs2147290510
|
|
NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)
|
|
|
NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter)
|
rs527236108
|
|
NM_001034853.2(RPGR):c.1983_1995del (p.Gly662fs)
|
|
|
NM_001034853.2(RPGR):c.2002del (p.His668fs)
|
|
|
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
|
|
|
NM_001034853.2(RPGR):c.2008_2017del (p.Gln670fs)
|
rs2067196699
|
|
NM_001034853.2(RPGR):c.2027_2078dup (p.Glu693_Lys694insGlyGlyGluArgGlnGlyTer)
|
rs2067193857
|
|
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg)
|
rs1601982516
|
|
NM_001034853.2(RPGR):c.2032_2034delinsAA (p.Glu678fs)
|
rs2067196140
|
|
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs)
|
rs1601924111
|
|
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter)
|
rs2067194648
|
|
NM_001034853.2(RPGR):c.2064del (p.Arg688fs)
|
|
|
NM_001034853.2(RPGR):c.2070del (p.Glu691fs)
|
rs1601924055
|
|
NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter)
|
rs2147199844
|
|
NM_001034853.2(RPGR):c.2073_2080dup (p.Lys694fs)
|
|
|
NM_001034853.2(RPGR):c.2083del (p.Glu695fs)
|
|
|
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.2153del (p.Gly718fs)
|
|
|
NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter)
|
rs2067191154
|
|
NM_001034853.2(RPGR):c.2159_2162del (p.Gln720fs)
|
|
|
NM_001034853.2(RPGR):c.2168_2171del (p.Arg723fs)
|
rs2067190922
|
|
NM_001034853.2(RPGR):c.2195del (p.Glu732fs)
|
|
|
NM_001034853.2(RPGR):c.219del (p.Ala74fs)
|
rs1601982474
|
|
NM_001034853.2(RPGR):c.2221G>T (p.Glu741Ter)
|
|
|
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.2240_2253del (p.Glu747fs)
|
|
|
NM_001034853.2(RPGR):c.2250_2251del (p.Lys751fs)
|
rs1555961849
|
|
NM_001034853.2(RPGR):c.2251A>T (p.Lys751Ter)
|
rs2067188111
|
|
NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter)
|
rs267606453
|
|
NM_001034853.2(RPGR):c.2268del (p.Glu757fs)
|
|
|
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.2316del (p.Gly773fs)
|
|
|
NM_001034853.2(RPGR):c.2321_2330del (p.Glu774fs)
|
|
|
NM_001034853.2(RPGR):c.2327_2354del (p.Lys776fs)
|
rs2067184831
|
|
NM_001034853.2(RPGR):c.2336_2345dup (p.Glu784fs)
|
|
|
NM_001034853.2(RPGR):c.2346del (p.Lys783fs)
|
rs1064797365
|
|
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
|
|
|
NM_001034853.2(RPGR):c.2360del (p.Gly787fs)
|
|
|
NM_001034853.2(RPGR):c.2362_2366del (p.Glu788fs)
|
rs2067184362
|
|
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter)
|
rs2067183876
|
|
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)
|
rs1569237206
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.2409del (p.Arg804fs)
|
rs2067182990
|
|
NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter)
|
rs1601922877
|
|
NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter)
|
rs1555961787
|
|
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter)
|
rs2067182354
|
|
NM_001034853.2(RPGR):c.2420_2435del (p.Glu807fs)
|
rs2147197891
|
|
NM_001034853.2(RPGR):c.2424_2427del (p.Glu809fs)
|
|
|
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.2437G>T (p.Glu813Ter)
|
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
NM_001034853.2(RPGR):c.2447del (p.Gly816fs)
|
rs1854473658
|
|
NM_001034853.2(RPGR):c.2452G>T (p.Glu818Ter)
|
rs2147197770
|
|
NM_001034853.2(RPGR):c.2455_2468del (p.Val819fs)
|
|
|
NM_001034853.2(RPGR):c.246dup (p.Ala83fs)
|
|
|
NM_001034853.2(RPGR):c.247+1G>A
|
|
|
NM_001034853.2(RPGR):c.2474_2475insT (p.Glu825fs)
|
rs2147197552
|
|
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs)
|
rs2067179633
|
|
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter)
|
rs2067179538
|
|
NM_001034853.2(RPGR):c.2488G>T (p.Glu830Ter)
|
rs1601922510
|
|
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter)
|
rs865977487
|
|
NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs)
|
rs2067176160
|
|
NM_001034853.2(RPGR):c.2506dup (p.Glu836fs)
|
rs1569236971
|
|
NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs)
|
rs2067176379
|
|
NM_001034853.2(RPGR):c.2526_2527del (p.Glu843fs)
|
rs2067175855
|
|
NM_001034853.2(RPGR):c.2527G>T (p.Glu843Ter)
|
|
|
NM_001034853.2(RPGR):c.2536dup (p.Glu846fs)
|
|
|
NM_001034853.2(RPGR):c.2541_2542del (p.Glu848fs)
|
|
|
NM_001034853.2(RPGR):c.255del (p.Lys85fs)
|
rs1555968248
|
|
NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)
|
|
|
NM_001034853.2(RPGR):c.2568dup (p.Lys857fs)
|
rs2067172824
|
|
NM_001034853.2(RPGR):c.2569A>T (p.Lys857Ter)
|
|
|
NM_001034853.2(RPGR):c.2571del (p.Glu859fs)
|
rs1555961704
|
|
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)
|
rs1555961677
|
|
NM_001034853.2(RPGR):c.2608G>T (p.Glu870Ter)
|
rs2067169164
|
|
NM_001034853.2(RPGR):c.2625del (p.Glu877fs)
|
|
|
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.2630del (p.Glu877fs)
|
|
|
NM_001034853.2(RPGR):c.2641G>T (p.Glu881Ter)
|
rs1569236609
|
|
NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter)
|
rs1555961624
|
|
NM_001034853.2(RPGR):c.264_265del (p.Lys88fs)
|
rs2147285764
|
|
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter)
|
rs2067161139
|
|
NM_001034853.2(RPGR):c.2706_2707del (p.Glu903fs)
|
|
|
NM_001034853.2(RPGR):c.2716G>T (p.Glu906Ter)
|
|
|
NM_001034853.2(RPGR):c.2725G>T (p.Glu909Ter)
|
|
|
NM_001034853.2(RPGR):c.2731G>T (p.Glu911Ter)
|
rs2067159456
|
|
NM_001034853.2(RPGR):c.2764dup (p.Glu922fs)
|
rs2067157388
|
|
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs)
|
rs1601920532
|
|
NM_001034853.2(RPGR):c.2785G>T (p.Glu929Ter)
|
rs1057519236
|
|
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg)
|
rs1601978925
|
|
NM_001034853.2(RPGR):c.2817_2818del (p.Glu940fs)
|
rs2147194427
|
|
NM_001034853.2(RPGR):c.2819_2838dup (p.Glu947fs)
|
rs2067149319
|
|
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.283G>A (p.Gly95Arg)
|
|
|
NM_001034853.2(RPGR):c.2864G>A (p.Trp955Ter)
|
rs1555961491
|
|
NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter)
|
rs2067146202
|
|
NM_001034853.2(RPGR):c.2887del (p.Glu963fs)
|
rs1064797364
|
|
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs)
|
rs1569235999
|
|
NM_001034853.2(RPGR):c.2899dup (p.Glu967fs)
|
rs1569235999
|
|
NM_001034853.2(RPGR):c.29-1G>T
|
rs2067987832
|
|
NM_001034853.2(RPGR):c.29-2A>G
|
rs2147291936
|
|
NM_001034853.2(RPGR):c.2909del (p.Gly970fs)
|
rs2147193425
|
|
NM_001034853.2(RPGR):c.2911G>T (p.Glu971Ter)
|
|
|
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs)
|
rs2067140574
|
|
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3])
|
rs772859148
|
|
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.2971del (p.Glu991fs)
|
rs2067134254
|
|
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)
|
rs1064797366
|
|
NM_001034853.2(RPGR):c.3081_3091del (p.Glu1028fs)
|
rs1555961350
|
|
NM_001034853.2(RPGR):c.3097dup (p.Glu1033fs)
|
rs606231180
|
|
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT
|
rs1601978817
|
|
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.311-1G>A
|
|
|
NM_001034853.2(RPGR):c.3120GGA[1] (p.Glu1042del)
|
rs748582313
|
|
NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter)
|
rs2067118339
|
|
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs)
|
rs771214648
|
|
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter)
|
rs2147190626
|
|
NM_001034853.2(RPGR):c.3190G>T (p.Glu1064Ter)
|
rs2067117239
|
|
NM_001034853.2(RPGR):c.3198_3214dup (p.Thr1072fs)
|
|
|
NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs)
|
rs2147190484
|
|
NM_001034853.2(RPGR):c.3208C>T (p.Gln1070Ter)
|
|
|
NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs)
|
rs2147190470
|
|
NM_001034853.2(RPGR):c.3231_3234del (p.Asn1077fs)
|
|
|
NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)
|
|
|
NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer)
|
rs2067115815
|
|
NM_001034853.2(RPGR):c.3263_3266del (p.Val1088fs)
|
|
|
NM_001034853.2(RPGR):c.327dup (p.Ala110fs)
|
rs2067878443
|
|
NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs)
|
rs2067114709
|
|
NM_001034853.2(RPGR):c.334G>A (p.Gly112Ser)
|
|
|
NM_001034853.2(RPGR):c.335G>A (p.Gly112Asp)
|
rs2067878321
|
|
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter)
|
rs1601917052
|
|
NM_001034853.2(RPGR):c.3395del (p.Asn1132fs)
|
|
|
NM_001034853.2(RPGR):c.3453G>T (p.Leu1151Phe)
|
rs1555961220
|
|
NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys)
|
rs2067111489
|
|
NM_001034853.2(RPGR):c.360del (p.Gly122fs)
|
|
|
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)
|
rs62638643
|
|
NM_001034853.2(RPGR):c.382_383del (p.Asn128fs)
|
rs2067877357
|
|
NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys)
|
rs62638644
|
|
NM_001034853.2(RPGR):c.408dup (p.Thr137fs)
|
|
|
NM_001034853.2(RPGR):c.427A>T (p.Lys143Ter)
|
|
|
NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)
|
|
|
NM_001034853.2(RPGR):c.442G>A (p.Gly148Arg)
|
rs2067876063
|
|
NM_001034853.2(RPGR):c.469+1G>A
|
rs62638646
|
|
NM_001034853.2(RPGR):c.469_469+5del
|
rs2067875112
|
|
NM_001034853.2(RPGR):c.470-1G>A
|
|
|
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg)
|
rs2067847091
|
|
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp)
|
rs1601972449
|
|
NM_001034853.2(RPGR):c.494G>T (p.Gly165Val)
|
|
|
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)
|
rs369037463
|
|
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)
|
rs1601972255
|
|
NM_001034853.2(RPGR):c.619+2T>A
|
rs2067844613
|
|
NM_001034853.2(RPGR):c.619+2_619+5del
|
|
|
NM_001034853.2(RPGR):c.619+5G>C
|
|
|
NM_001034853.2(RPGR):c.620-2A>G
|
|
|
NM_001034853.2(RPGR):c.633del (p.Tyr212fs)
|
rs1555966753
|
|
NM_001034853.2(RPGR):c.636T>G (p.Tyr212Ter)
|
|
|
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs)
|
rs796065331
|
|
NM_001034853.2(RPGR):c.644G>T (p.Gly215Val)
|
rs62650218
|
|
NM_001034853.2(RPGR):c.665del (p.Lys221_Leu222insTer)
|
|
|
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)
|
rs1601961064
|
|
NM_001034853.2(RPGR):c.778+1G>T
|
|
|
NM_001034853.2(RPGR):c.778+1del
|
rs2147261624
|
|
NM_001034853.2(RPGR):c.779-1G>A
|
rs62638655
|
|
NM_001034853.2(RPGR):c.779-3C>A
|
rs1555965712
|
|
NM_001034853.2(RPGR):c.783_784insA (p.Ala262fs)
|
|
|
NM_001034853.2(RPGR):c.799G>C (p.Gly267Arg)
|
rs2147248035
|
|
NM_001034853.2(RPGR):c.800G>T (p.Gly267Val)
|
rs2147248019
|
|
NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu)
|
rs398123336
|
|
NM_001034853.2(RPGR):c.808C>T (p.Gln270Ter)
|
rs878853374
|
|
NM_001034853.2(RPGR):c.814G>T (p.Gly272Cys)
|
|
|
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.824G>A (p.Gly275Asp)
|
|
|
NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter)
|
rs2067562961
|
|
NM_001034853.2(RPGR):c.894_895del (p.Ser298fs)
|
rs527236111
|
|
NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg)
|
rs62640589
|
|
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)
|
rs62640590
|
|
NM_001034853.2(RPGR):c.914dup (p.Asn305fs)
|
rs1555965653
|
|
NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro)
|
rs527236112
|
|
NM_001034853.2(RPGR):c.934G>T (p.Asp312Tyr)
|
|
|
NM_001034853.2(RPGR):c.957del (p.Phe319fs)
|
rs1601947074
|
|
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter)
|
rs62640594
|
|