NM_001034853.2(RPGR):c.2341G>A (p.Ala781Thr)
|
rs5917557
|
0.13157
|
NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=)
|
rs12687163
|
0.12023
|
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)
|
rs1801688
|
0.09526
|
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)
|
rs1801687
|
0.09261
|
NM_001034853.2(RPGR):c.2223G>A (p.Glu741=)
|
rs147619484
|
0.08849
|
NM_001034853.2(RPGR):c.3430G>A (p.Val1144Ile)
|
rs12688514
|
0.07772
|
NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=)
|
rs111787313
|
0.06277
|
NM_001034853.2(RPGR):c.3264G>A (p.Val1088=)
|
rs78736275
|
0.06219
|
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val)
|
rs62635003
|
0.05955
|
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly)
|
rs138018739
|
0.00035
|
NM_001034853.2(RPGR):c.2543del (p.Glu848fs)
|
rs1233849070
|
0.00002
|
NM_001034853.2(RPGR):c.827T>G (p.Leu276Arg)
|
rs771616566
|
0.00002
|
NM_001034853.2(RPGR):c.1754-9G>A
|
rs762495217
|
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
|
NM_000328.3(RPGR):c.2057C>T (p.Thr686Ile)
|
|
|
NM_000328.3(RPGR):c.2265C>T (p.Pro755=)
|
|
|
NM_000328.3(RPGR):c.2366A>T (p.Asp789Val)
|
|
|
NM_001034853.2(RPGR):c.101del (p.Asn34fs)
|
rs281865295
|
|
NM_001034853.2(RPGR):c.1040del (p.Phe346_Leu347insTer)
|
|
|
NM_001034853.2(RPGR):c.1048A>G (p.Ile350Val)
|
|
|
NM_001034853.2(RPGR):c.1060-2A>G
|
rs2067453631
|
|
NM_001034853.2(RPGR):c.1077T>A (p.Cys359Ter)
|
|
|
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs)
|
rs281865301
|
|
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)
|
rs62635001
|
|
NM_001034853.2(RPGR):c.1125T>G (p.Ile375Met)
|
|
|
NM_001034853.2(RPGR):c.1126G>T (p.Glu376Ter)
|
rs2067451355
|
|
NM_001034853.2(RPGR):c.1135G>T (p.Glu379Ter)
|
|
|
NM_001034853.2(RPGR):c.1170del (p.Leu391fs)
|
rs2067449854
|
|
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+3A>G
|
rs62635002
|
|
NM_001034853.2(RPGR):c.1281A>G (p.Thr427=)
|
|
|
NM_001034853.2(RPGR):c.128dup (p.Asp44fs)
|
rs2067985696
|
|
NM_001034853.2(RPGR):c.1304_1305del (p.Leu435fs)
|
|
|
NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter)
|
rs2067406342
|
|
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.1491del (p.Asp498fs)
|
rs2067277129
|
|
NM_001034853.2(RPGR):c.1538del (p.Lys513fs)
|
rs2067267431
|
|
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)
|
rs281865296
|
|
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
|
|
|
NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter)
|
|
|
NM_001034853.2(RPGR):c.1572+1del
|
rs878853373
|
|
NM_001034853.2(RPGR):c.1573-2del
|
|
|
NM_001034853.2(RPGR):c.1594C>T (p.Leu532=)
|
|
|
NM_001034853.2(RPGR):c.1612C>G (p.Leu538Val)
|
|
|
NM_001034853.2(RPGR):c.1642G>T (p.Glu548Ter)
|
|
|
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.1685_1686del (p.His562fs)
|
rs2067217662
|
|
NM_001034853.2(RPGR):c.168_169del (p.Tyr57fs)
|
rs2067976665
|
|
NM_001034853.2(RPGR):c.1691dup (p.Gln565fs)
|
rs2067217398
|
|
NM_001034853.2(RPGR):c.1720A>T (p.Thr574Ser)
|
|
|
NM_001034853.2(RPGR):c.1721_1722insAT (p.Thr574_Thr575insTer)
|
|
|
NM_001034853.2(RPGR):c.1724_1725insGCATGAAGCAT (p.Ile576fs)
|
|
|
NM_001034853.2(RPGR):c.1726A>T (p.Ile576Phe)
|
|
|
NM_001034853.2(RPGR):c.1728_1729insATGACGCAT (p.Ile576_Glu577insMetThrHis)
|
|
|
NM_001034853.2(RPGR):c.1753G>A (p.Glu585Lys)
|
rs2067215010
|
|
NM_001034853.2(RPGR):c.1754-2dup
|
rs2067203496
|
|
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)
|
rs62638634
|
|
NM_001034853.2(RPGR):c.1807del (p.Glu603fs)
|
|
|
NM_001034853.2(RPGR):c.1840_1843dup (p.Val615fs)
|
rs2067201139
|
|
NM_001034853.2(RPGR):c.1928C>G (p.Ser643Ter)
|
rs869312185
|
|
NM_001034853.2(RPGR):c.193G>C (p.Gly65Arg)
|
rs2067975926
|
|
NM_001034853.2(RPGR):c.1957G>A (p.Gly653Ser)
|
|
|
NM_001034853.2(RPGR):c.1983A>C (p.Glu661Asp)
|
|
|
NM_001034853.2(RPGR):c.198G>C (p.Gln66His)
|
rs2067975683
|
|
NM_001034853.2(RPGR):c.2002del (p.His668fs)
|
|
|
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
|
|
|
NM_001034853.2(RPGR):c.200TAGGAT[1] (p.67LG[1])
|
rs2067975228
|
|
NM_001034853.2(RPGR):c.2032_2034delinsAA (p.Glu678fs)
|
rs2067196140
|
|
NM_001034853.2(RPGR):c.203G>T (p.Gly68Val)
|
rs2067975335
|
|
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter)
|
rs2067194648
|
|
NM_001034853.2(RPGR):c.2073_2080dup (p.Lys694fs)
|
|
|
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.2146G>T (p.Glu716Ter)
|
rs2067191335
|
|
NM_001034853.2(RPGR):c.2153del (p.Gly718fs)
|
|
|
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.2234_2237del (p.Arg745fs)
|
rs1555961852
|
|
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)
|
rs1555961852
|
|
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.2257_2260del (p.Gly753fs)
|
rs2067187618
|
|
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)
|
rs2067187550
|
|
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.2323_2324del (p.Arg775fs)
|
rs1555961832
|
|
NM_001034853.2(RPGR):c.2340del (p.Ala781fs)
|
rs2067185564
|
|
NM_001034853.2(RPGR):c.2342C>T (p.Ala781Val)
|
|
|
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del)
|
rs1287687440
|
|
NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter)
|
rs2067184023
|
|
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.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.2426_2427del (p.Glu809fs)
|
rs730882261
|
|
NM_001034853.2(RPGR):c.2427G>A (p.Glu809=)
|
|
|
NM_001034853.2(RPGR):c.2437G>T (p.Glu813Ter)
|
|
|
NM_001034853.2(RPGR):c.2442A>G (p.Val814=)
|
|
|
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.247+5G>A
|
rs2067974156
|
|
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter)
|
rs2067179538
|
|
NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs)
|
rs2067176160
|
|
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.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.2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs)
|
rs2067169934
|
|
NM_001034853.2(RPGR):c.2608G>T (p.Glu870Ter)
|
rs2067169164
|
|
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.2695G>T (p.Glu899Ter)
|
rs2067161139
|
|
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs)
|
rs2067160273
|
|
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs)
|
rs2067157388
|
|
NM_001034853.2(RPGR):c.2764dup (p.Glu922fs)
|
rs2067157388
|
|
NM_001034853.2(RPGR):c.2821G>T (p.Gly941Trp)
|
rs763102799
|
|
NM_001034853.2(RPGR):c.2839del (p.Glu947fs)
|
rs1555961509
|
|
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.29-1G>T
|
rs2067987832
|
|
NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter)
|
rs2067140471
|
|
NM_001034853.2(RPGR):c.2930G>T (p.Gly977Val)
|
rs1234506102
|
|
NM_001034853.2(RPGR):c.2937_2953del (p.Glu980fs)
|
rs2067136586
|
|
NM_001034853.2(RPGR):c.2947G>T (p.Glu983Ter)
|
rs1569235803
|
|
NM_001034853.2(RPGR):c.296C>T (p.Thr99Ile)
|
|
|
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)
|
rs1064797366
|
|
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.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.310+7T>G
|
rs2067929126
|
|
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.3120GGA[1] (p.Glu1042del)
|
rs748582313
|
|
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs)
|
rs771214648
|
|
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
|
rs746535151
|
|
NM_001034853.2(RPGR):c.3190G>T (p.Glu1064Ter)
|
rs2067117239
|
|
NM_001034853.2(RPGR):c.3202A>T (p.Lys1068Ter)
|
|
|
NM_001034853.2(RPGR):c.327dup (p.Ala110fs)
|
rs2067878443
|
|
NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs)
|
rs2067114709
|
|
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)
|
rs886041376
|
|
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.362T>G (p.Leu121Arg)
|
rs2067878147
|
|
NM_001034853.2(RPGR):c.372del (p.Glu125fs)
|
rs62638642
|
|
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.389_390del (p.Phe130fs)
|
rs1601974881
|
|
NM_001034853.2(RPGR):c.443G>A (p.Gly148Glu)
|
rs2067875982
|
|
NM_001034853.2(RPGR):c.469+1G>A
|
rs62638646
|
|
NM_001034853.2(RPGR):c.484_486del (p.Phe162del)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter)
|
rs62638648
|
|
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg)
|
rs2067847091
|
|
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)
|
rs369037463
|
|
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs)
|
rs796065331
|
|
NM_001034853.2(RPGR):c.679C>T (p.Gln227Ter)
|
rs2067700774
|
|
NM_001034853.2(RPGR):c.764C>T (p.Thr255Ile)
|
|
|
NM_001034853.2(RPGR):c.808C>T (p.Gln270Ter)
|
rs878853374
|
|
NM_001034853.2(RPGR):c.823G>C (p.Gly275Arg)
|
rs62642057
|
|
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)
|
rs62640590
|
|
NM_001034853.2(RPGR):c.908G>A (p.Gly303Glu)
|
rs878853375
|
|
NM_001034853.2(RPGR):c.934+1G>A
|
rs62640592
|
|
NM_001034853.2(RPGR):c.934+1G>T
|
rs62640592
|
|
NM_001034853.2(RPGR):c.935-2A>G
|
rs2067498092
|
|
NM_001034853.2(RPGR):c.972C>T (p.His324=)
|
|
|