NM_001034853.2(RPGR):c.1059+363G>A
|
rs1410177435
|
0.00010
|
NM_001034853.2(RPGR):c.2543del (p.Glu848fs)
|
rs1233849070
|
0.00002
|
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
|
|
|
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
|
|
|
NG_009553.1:g.(46900_53331)_53439del
|
|
|
NM_000328.2(RPGR):c.*644del
|
rs1601890980
|
|
NM_000328.3(RPGR):c.1997_1998del (p.Val666fs)
|
|
|
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs)
|
rs1601891967
|
|
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer)
|
rs1601891936
|
|
NM_001034853.2(RPGR):c.101_102insC (p.Asn34_Asp35insTer)
|
|
|
NM_001034853.2(RPGR):c.101del (p.Asn34fs)
|
rs281865295
|
|
NM_001034853.2(RPGR):c.1054_1058del (p.Lys352fs)
|
rs1555965081
|
|
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.1187dup (p.Leu396fs)
|
rs1555964576
|
|
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.1225del (p.Arg409fs)
|
|
|
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.1246-2A>C
|
rs2067410562
|
|
NM_001034853.2(RPGR):c.1251del (p.Arg417fs)
|
|
|
NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs)
|
rs2067408614
|
|
NM_001034853.2(RPGR):c.1315del (p.Ala439fs)
|
|
|
NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter)
|
rs1601940608
|
|
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter)
|
rs1555968524
|
|
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.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.1387C>T (p.Gln463Ter)
|
rs886044302
|
|
NM_001034853.2(RPGR):c.139dup (p.Ser47fs)
|
|
|
NM_001034853.2(RPGR):c.1402_1405del (p.Pro468fs)
|
rs62653030
|
|
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.154+1G>A
|
rs2067985165
|
|
NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter)
|
rs2147211363
|
|
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.155-1G>A
|
rs1601982595
|
|
NM_001034853.2(RPGR):c.155-2A>G
|
rs62638632
|
|
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
|
|
|
NM_001034853.2(RPGR):c.1572+1G>A
|
rs1601931052
|
|
NM_001034853.2(RPGR):c.1572+3A>T
|
rs1555962831
|
|
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.1671del (p.Ala558fs)
|
rs1569238659
|
|
NM_001034853.2(RPGR):c.1685_1686del (p.His562fs)
|
rs2067217662
|
|
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.1754-15_1754-5del
|
rs2067203546
|
|
NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter)
|
rs2067202860
|
|
NM_001034853.2(RPGR):c.1796dup (p.Asn599fs)
|
rs2147200895
|
|
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.1836del (p.Asn612fs)
|
rs2067201253
|
|
NM_001034853.2(RPGR):c.183dup (p.Asn62Ter)
|
rs2067976030
|
|
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs)
|
rs2067200470
|
|
NM_001034853.2(RPGR):c.1880C>G (p.Ser627Ter)
|
|
|
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.1926dup (p.Ser643fs)
|
rs2067199347
|
|
NM_001034853.2(RPGR):c.1928C>G (p.Ser643Ter)
|
rs869312185
|
|
NM_001034853.2(RPGR):c.1932_1933insC (p.Gly645fs)
|
rs2147200451
|
|
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.1966dup (p.Asp656fs)
|
rs2067198376
|
|
NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter)
|
rs2067196800
|
|
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
|
|
|
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)
|
rs1601924184
|
|
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs)
|
rs1601924111
|
|
NM_001034853.2(RPGR):c.2048dup (p.Gly684fs)
|
|
|
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter)
|
rs2067194648
|
|
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs)
|
rs2067194747
|
|
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.2078_2148dup (p.Gln717delinsArgArgAsnTer)
|
rs2147199457
|
|
NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter)
|
rs2067193671
|
|
NM_001034853.2(RPGR):c.2099_2138dup (p.Glu714fs)
|
|
|
NM_001034853.2(RPGR):c.2105_2213dup (p.Glu742fs)
|
|
|
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter)
|
rs2067193056
|
|
NM_001034853.2(RPGR):c.2123A>G (p.Glu708Gly)
|
rs2067192032
|
|
NM_001034853.2(RPGR):c.2140del (p.Glu714fs)
|
|
|
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs)
|
rs2067191541
|
|
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.2167del (p.Arg723fs)
|
rs2067190976
|
|
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)
|
rs907856232
|
|
NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter)
|
rs1601923813
|
|
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.2221_2224del (p.Glu741fs)
|
rs1601923578
|
|
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.2246_2253del (p.Glu749fs)
|
|
|
NM_001034853.2(RPGR):c.2248G>T (p.Glu750Ter)
|
|
|
NM_001034853.2(RPGR):c.2249_2253del (p.Glu750fs)
|
rs2067188031
|
|
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.2270_2271del (p.Glu757fs)
|
|
|
NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter)
|
rs1601923388
|
|
NM_001034853.2(RPGR):c.2274_2277del (p.Gly759fs)
|
|
|
NM_001034853.2(RPGR):c.2278G>T (p.Glu760Ter)
|
|
|
NM_001034853.2(RPGR):c.2283_2284del (p.Glu762fs)
|
rs2067187127
|
|
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.2296_2299del (p.Gly766fs)
|
rs2067186632
|
|
NM_001034853.2(RPGR):c.2311_2314del (p.Glu771fs)
|
|
|
NM_001034853.2(RPGR):c.2320G>T (p.Glu774Ter)
|
|
|
NM_001034853.2(RPGR):c.2321_2348del (p.Glu774fs)
|
rs2067185063
|
|
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs)
|
rs1555961832
|
|
NM_001034853.2(RPGR):c.2330del (p.Lys777fs)
|
rs2147198604
|
|
NM_001034853.2(RPGR):c.2333del (p.Glu778fs)
|
|
|
NM_001034853.2(RPGR):c.2336_2337insTC (p.Glu779fs)
|
|
|
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.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.2403_2406del (p.Glu802fs)
|
rs2067183162
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter)
|
rs1601922877
|
|
NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs)
|
rs2067182636
|
|
NM_001034853.2(RPGR):c.2412_2418del (p.Gly805fs)
|
|
|
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.2423_2424del (p.Lys808fs)
|
|
|
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.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1])
|
rs777850798
|
|
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.2447del (p.Gly816fs)
|
rs1854473658
|
|
NM_001034853.2(RPGR):c.2454del (p.Glu818_Val819insTer)
|
|
|
NM_001034853.2(RPGR):c.2455_2468del (p.Val819fs)
|
|
|
NM_001034853.2(RPGR):c.2457_2460del (p.Glu820fs)
|
rs2067180395
|
|
NM_001034853.2(RPGR):c.2457dup (p.Glu820fs)
|
|
|
NM_001034853.2(RPGR):c.2461G>T (p.Glu821Ter)
|
rs2067180233
|
|
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.2470G>T (p.Gly824Ter)
|
rs2147197584
|
|
NM_001034853.2(RPGR):c.2470_2471del (p.Gly824fs)
|
rs2067179881
|
|
NM_001034853.2(RPGR):c.2471del (p.Gly824fs)
|
|
|
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.248-1G>A
|
|
|
NM_001034853.2(RPGR):c.248-1G>T
|
|
|
NM_001034853.2(RPGR):c.248-2A>G
|
rs62638633
|
|
NM_001034853.2(RPGR):c.2480_2520dup (p.Glu841fs)
|
rs2147197209
|
|
NM_001034853.2(RPGR):c.2482G>T (p.Glu828Ter)
|
|
|
NM_001034853.2(RPGR):c.2485G>T (p.Glu829Ter)
|
|
|
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter)
|
rs865977487
|
|
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.2505_2506del (p.Glu836fs)
|
rs1569236971
|
|
NM_001034853.2(RPGR):c.2506del (p.Glu836fs)
|
|
|
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.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.2527dup (p.Glu843fs)
|
rs2067175855
|
|
NM_001034853.2(RPGR):c.2548G>T (p.Glu850Ter)
|
rs1601922074
|
|
NM_001034853.2(RPGR):c.2548del (p.Glu850fs)
|
rs2067174697
|
|
NM_001034853.2(RPGR):c.255del (p.Lys85fs)
|
rs1555968248
|
|
NM_001034853.2(RPGR):c.2562del (p.Glu855fs)
|
|
|
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.2590G>T (p.Glu864Ter)
|
|
|
NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter)
|
rs1601978991
|
|
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.2610_2611del (p.Glu872fs)
|
|
|
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.2622_3056del (p.Gly876_Glu1020del)
|
rs2067126569
|
|
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
|
|
|
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.2647G>T (p.Gly883Ter)
|
rs1555961624
|
|
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.2689G>T (p.Glu897Ter)
|
rs2067161460
|
|
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_2731del (p.Glu911fs)
|
|
|
NM_001034853.2(RPGR):c.2730_2731dup (p.Glu911fs)
|
|
|
NM_001034853.2(RPGR):c.2735del (p.Gly912fs)
|
rs2067159265
|
|
NM_001034853.2(RPGR):c.2743G>T (p.Glu915Ter)
|
|
|
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.2772_2773dup (p.Gly925fs)
|
rs1601920599
|
|
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs)
|
rs1601920532
|
|
NM_001034853.2(RPGR):c.2782G>T (p.Gly928Ter)
|
|
|
NM_001034853.2(RPGR):c.2785dup (p.Glu929fs)
|
rs2067155200
|
|
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.2797del (p.Glu933fs)
|
rs1346308311
|
|
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.2847_2848inv (p.Glu949_Glu950delinsAspTer)
|
|
|
NM_001034853.2(RPGR):c.2848G>T (p.Glu950Ter)
|
rs1601919915
|
|
NM_001034853.2(RPGR):c.2851_2854dup (p.Glu952fs)
|
|
|
NM_001034853.2(RPGR):c.2854G>T (p.Glu952Ter)
|
|
|
NM_001034853.2(RPGR):c.2862dup (p.Trp955fs)
|
|
|
NM_001034853.2(RPGR):c.2863_2866del (p.Trp955fs)
|
|
|
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.2887del (p.Glu963fs)
|
rs1064797364
|
|
NM_001034853.2(RPGR):c.2892_2893del (p.Glu965fs)
|
rs2067144007
|
|
NM_001034853.2(RPGR):c.2893G>T (p.Glu965Ter)
|
rs1420285326
|
|
NM_001034853.2(RPGR):c.2894del (p.Glu965fs)
|
rs2147193654
|
|
NM_001034853.2(RPGR):c.2899dup (p.Glu967fs)
|
rs1569235999
|
|
NM_001034853.2(RPGR):c.29-1G>T
|
rs2067987832
|
|
NM_001034853.2(RPGR):c.2910_2914del (p.Glu971fs)
|
|
|
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.2923dup (p.Glu975fs)
|
|
|
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter)
|
rs137852551
|
|
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.2939del (p.Glu980fs)
|
|
|
NM_001034853.2(RPGR):c.2944del (p.Glu982fs)
|
|
|
NM_001034853.2(RPGR):c.2945_2964del (p.Glu982fs)
|
rs2067135227
|
|
NM_001034853.2(RPGR):c.2947G>T (p.Glu983Ter)
|
rs1569235803
|
|
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.296C>A (p.Thr99Asn)
|
rs62638637
|
|
NM_001034853.2(RPGR):c.2971del (p.Glu991fs)
|
rs2067134254
|
|
NM_001034853.2(RPGR):c.2992G>T (p.Glu998Ter)
|
|
|
NM_001034853.2(RPGR):c.2993_2996del (p.Glu998fs)
|
rs1569235677
|
|
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.299T>C (p.Leu100Pro)
|
rs1064797366
|
|
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.3032del (p.Gly1011fs)
|
|
|
NM_001034853.2(RPGR):c.3034del (p.Glu1012fs)
|
rs2067128124
|
|
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs)
|
rs2067127718
|
|
NM_001034853.2(RPGR):c.3040del (p.Glu1014fs)
|
|
|
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter)
|
rs2067127275
|
|
NM_001034853.2(RPGR):c.3050_3051del (p.Glu1017fs)
|
|
|
NM_001034853.2(RPGR):c.305C>G (p.Ser102Ter)
|
|
|
NM_001034853.2(RPGR):c.3070G>T (p.Glu1024Ter)
|
rs1799325384
|
|
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs)
|
rs2067124487
|
|
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.310G>T (p.Glu104Ter)
|
rs1601978823
|
|
NM_001034853.2(RPGR):c.3133G>T (p.Glu1045Ter)
|
|
|
NM_001034853.2(RPGR):c.3150_3151del (p.Glu1051fs)
|
rs2147190794
|
|
NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter)
|
rs2067118339
|
|
NM_001034853.2(RPGR):c.3166_3167del (p.Arg1056fs)
|
|
|
NM_001034853.2(RPGR):c.3175del (p.Arg1059fs)
|
rs2067117666
|
|
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.3197_3198del (p.Glu1066fs)
|
|
|
NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs)
|
rs2147190470
|
|
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.3308_3309del (p.Tyr1103fs)
|
|
|
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.3373C>T (p.Gln1125Ter)
|
rs1601917052
|
|
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.379del (p.Arg127fs)
|
rs2067877633
|
|
NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser)
|
rs62638644
|
|
NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys)
|
rs62638644
|
|
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs)
|
rs1601974881
|
|
NM_001034853.2(RPGR):c.41dup (p.Phe15fs)
|
|
|
NM_001034853.2(RPGR):c.423del (p.Ile142fs)
|
rs1569258901
|
|
NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)
|
|
|
NM_001034853.2(RPGR):c.442G>C (p.Gly148Arg)
|
|
|
NM_001034853.2(RPGR):c.469+1G>T
|
rs62638646
|
|
NM_001034853.2(RPGR):c.470-73_619+1581del
|
|
|
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.486del (p.Phe162fs)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter)
|
rs62638648
|
|
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.517G>C (p.Gly173Arg)
|
rs137852550
|
|
NM_001034853.2(RPGR):c.536del (p.Asn179fs)
|
|
|
NM_001034853.2(RPGR):c.544_545del (p.Val182fs)
|
rs2147276819
|
|
NM_001034853.2(RPGR):c.550C>T (p.Gln184Ter)
|
|
|
NM_001034853.2(RPGR):c.572_619+9del
|
|
|
NM_001034853.2(RPGR):c.578_588del (p.Ser193fs)
|
rs1569257917
|
|
NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter)
|
rs62650216
|
|
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)
|
rs1601972255
|
|
NM_001034853.2(RPGR):c.597T>G (p.Tyr199Ter)
|
|
|
NM_001034853.2(RPGR):c.602A>T (p.His201Leu)
|
rs2067845149
|
|
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs)
|
rs796065331
|
|
NM_001034853.2(RPGR):c.665T>G (p.Leu222Ter)
|
rs2147261937
|
|
NM_001034853.2(RPGR):c.679C>T (p.Gln227Ter)
|
rs2067700774
|
|
NM_001034853.2(RPGR):c.703C>T (p.Pro235Ser)
|
rs62638651
|
|
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter)
|
rs62638652
|
|
NM_001034853.2(RPGR):c.706del (p.Gln236fs)
|
rs1601961173
|
|
NM_001034853.2(RPGR):c.718G>T (p.Glu240Ter)
|
|
|
NM_001034853.2(RPGR):c.736_745dup (p.Ala249fs)
|
rs2147261738
|
|
NM_001034853.2(RPGR):c.739C>T (p.Gln247Ter)
|
|
|
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)
|
rs1601961064
|
|
NM_001034853.2(RPGR):c.752G>A (p.Gly251Asp)
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rs1555966699
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NM_001034853.2(RPGR):c.778+1G>A
|
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NM_001034853.2(RPGR):c.779-1G>A
|
rs62638655
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NM_001034853.2(RPGR):c.779-2A>G
|
rs2147248124
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NM_001034853.2(RPGR):c.779-5T>G
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rs2067565504
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NM_001034853.2(RPGR):c.789_790del (p.Thr265fs)
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rs2147248070
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NM_001034853.2(RPGR):c.792dup (p.Thr265fs)
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|
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NM_001034853.2(RPGR):c.793_794dup (p.Phe266fs)
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|
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NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu)
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rs398123336
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|
NM_001034853.2(RPGR):c.815G>T (p.Gly272Val)
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|
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NM_001034853.2(RPGR):c.81del (p.Gly28fs)
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|
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NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)
|
rs62642057
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NM_001034853.2(RPGR):c.823G>C (p.Gly275Arg)
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rs62642057
|
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NM_001034853.2(RPGR):c.823G>T (p.Gly275Cys)
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|
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NM_001034853.2(RPGR):c.837del (p.Leu280fs)
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rs62640586
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|
NM_001034853.2(RPGR):c.838_842del (p.Phe279_Leu280insTer)
|
|
|
NM_001034853.2(RPGR):c.869del (p.Glu290fs)
|
rs62640588
|
|
NM_001034853.2(RPGR):c.897T>A (p.Tyr299Ter)
|
rs2147247751
|
|
NM_001034853.2(RPGR):c.897dup (p.Ile300fs)
|
rs1601951704
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NM_001034853.2(RPGR):c.907G>T (p.Gly303Ter)
|
rs2067562201
|
|
NM_001034853.2(RPGR):c.919del (p.Thr307fs)
|
rs1601951595
|
|
NM_001034853.2(RPGR):c.934+1G>A
|
rs62640592
|
|
NM_001034853.2(RPGR):c.934+1G>C
|
rs62640592
|
|
NM_001034853.2(RPGR):c.934+1G>T
|
rs62640592
|
|
NM_001034853.2(RPGR):c.934+2T>C
|
rs2147247534
|
|
NM_001034853.2(RPGR):c.934G>A (p.Asp312Asn)
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|
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NM_001034853.2(RPGR):c.935-1G>T
|
rs2067498051
|
|
NM_001034853.2(RPGR):c.935-2A>G
|
rs2067498092
|
|
NM_001034853.2(RPGR):c.93G>A (p.Trp31Ter)
|
|
|
NM_001034853.2(RPGR):c.957del (p.Phe319fs)
|
rs1601947074
|
|
NM_001034853.2(RPGR):c.97A>T (p.Lys33Ter)
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|
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NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter)
|
rs62640594
|
|
NM_001034853.2(RPGR):c.983del (p.Gly328fs)
|
rs1555965107
|
|