NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
NM_000328.2(RPGR):c.*644del
|
rs1601890980
|
|
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs)
|
rs1601892395
|
|
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.1084_1087dup (p.Val363fs)
|
rs527236109
|
|
NM_001034853.2(RPGR):c.114dup (p.His39fs)
|
rs2147291671
|
|
NM_001034853.2(RPGR):c.1179T>G (p.Tyr393Ter)
|
rs1601943462
|
|
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs)
|
rs1601943325
|
|
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.1243_1244del (p.Arg415fs)
|
rs281865302
|
|
NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp)
|
rs1555968526
|
|
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.1372_1373del (p.Ser458fs)
|
rs1555964133
|
|
NM_001034853.2(RPGR):c.1393del (p.Leu465fs)
|
rs1555964122
|
|
NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter)
|
rs1555962965
|
|
NM_001034853.2(RPGR):c.154+1G>A
|
rs2067985165
|
|
NM_001034853.2(RPGR):c.1572+1G>A
|
rs1601931052
|
|
NM_001034853.2(RPGR):c.1572+3A>T
|
rs1555962831
|
|
NM_001034853.2(RPGR):c.1573-3C>G
|
rs1601926845
|
|
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs)
|
rs2147203790
|
|
NM_001034853.2(RPGR):c.1731dup (p.Ala578fs)
|
rs1601926125
|
|
NM_001034853.2(RPGR):c.1754-15_1754-5del
|
rs2067203546
|
|
NM_001034853.2(RPGR):c.1894_1897del (p.Asp632fs)
|
rs1555961964
|
|
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs)
|
rs2067199347
|
|
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)
|
rs1601982532
|
|
NM_001034853.2(RPGR):c.1966dup (p.Asp656fs)
|
rs2067198376
|
|
NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter)
|
rs527236108
|
|
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)
|
rs1601924184
|
|
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg)
|
rs1601982516
|
|
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs)
|
rs1601924111
|
|
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs)
|
rs2067194747
|
|
NM_001034853.2(RPGR):c.2064del (p.Arg688fs)
|
|
|
NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter)
|
rs2067193671
|
|
NM_001034853.2(RPGR):c.2123A>G (p.Glu708Gly)
|
rs2067192032
|
|
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs)
|
rs2067191541
|
|
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.2221_2224del (p.Glu741fs)
|
rs1601923578
|
|
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.2250_2251del (p.Lys751fs)
|
rs1555961849
|
|
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs)
|
rs2067187618
|
|
NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter)
|
rs1601923388
|
|
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs)
|
rs2067186632
|
|
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.2346del (p.Lys783fs)
|
rs1064797365
|
|
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
|
|
|
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.2410A>T (p.Arg804Ter)
|
rs1601922877
|
|
NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter)
|
rs1555961787
|
|
NM_001034853.2(RPGR):c.2420_2435del (p.Glu807fs)
|
rs2147197891
|
|
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)
|
rs730882261
|
|
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.2461G>T (p.Glu821Ter)
|
rs2067180233
|
|
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.248-2A>G
|
rs62638633
|
|
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter)
|
rs865977487
|
|
NM_001034853.2(RPGR):c.2506dup (p.Glu836fs)
|
rs1569236971
|
|
NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs)
|
rs2067176379
|
|
NM_001034853.2(RPGR):c.2522del (p.Glu841fs)
|
rs1601922202
|
|
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs)
|
rs2067175855
|
|
NM_001034853.2(RPGR):c.255del (p.Lys85fs)
|
rs1555968248
|
|
NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)
|
|
|
NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter)
|
rs1601978991
|
|
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)
|
rs1555961677
|
|
NM_001034853.2(RPGR):c.2622_3056del (p.Gly876_Glu1020del)
|
rs2067126569
|
|
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.2735del (p.Gly912fs)
|
rs2067159265
|
|
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.2790_2791del (p.Glu931fs)
|
rs1601920423
|
|
NM_001034853.2(RPGR):c.2797del (p.Glu933fs)
|
rs1346308311
|
|
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.2824del (p.Glu942fs)
|
rs1601920131
|
|
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.2909del (p.Gly970fs)
|
rs2147193425
|
|
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)
|
rs2067138439
|
|
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)
|
rs1555961440
|
|
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del)
|
rs1356107537
|
|
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)
|
rs1064797366
|
|
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter)
|
rs2067127275
|
|
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs)
|
rs2067124487
|
|
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)
|
rs1186795749
|
|
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.310G>T (p.Glu104Ter)
|
rs1601978823
|
|
NM_001034853.2(RPGR):c.3175del (p.Arg1059fs)
|
rs2067117666
|
|
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter)
|
rs1601917052
|
|
NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser)
|
rs62638644
|
|
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs)
|
rs1601974881
|
|
NM_001034853.2(RPGR):c.469+1G>A
|
rs62638646
|
|
NM_001034853.2(RPGR):c.492G>T (p.Trp164Cys)
|
rs62638648
|
|
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp)
|
rs1601972449
|
|
NM_001034853.2(RPGR):c.578_588del (p.Ser193fs)
|
rs1569257917
|
|
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)
|
rs1601972255
|
|
NM_001034853.2(RPGR):c.602A>T (p.His201Leu)
|
rs2067845149
|
|
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)
|
rs1601961064
|
|
NM_001034853.2(RPGR):c.779-3C>A
|
rs1555965712
|
|
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)
|
rs62642057
|
|
NM_001034853.2(RPGR):c.894_895del (p.Ser298fs)
|
rs527236111
|
|
NM_001034853.2(RPGR):c.897dup (p.Ile300fs)
|
rs1601951704
|
|
NM_001034853.2(RPGR):c.907G>T (p.Gly303Ter)
|
rs2067562201
|
|
NM_001034853.2(RPGR):c.914dup (p.Asn305fs)
|
rs1555965653
|
|
NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro)
|
rs527236112
|
|
NM_001034853.2(RPGR):c.935-1G>T
|
rs2067498051
|
|
NM_001034853.2(RPGR):c.957del (p.Phe319fs)
|
rs1601947074
|
|