NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)
|
rs111784356
|
0.02010
|
NM_000440.3(PDE6A):c.*2400G>A
|
rs74771814
|
0.01987
|
NM_004744.5(LRAT):c.*2625A>G
|
rs77071498
|
0.01933
|
NM_201548.5(CERKL):c.*1324G>A
|
rs11553355
|
0.01741
|
NM_201548.5(CERKL):c.*1045G>A
|
rs78381893
|
0.01727
|
NM_177965.4(CFAP418):c.450G>A (p.Ser150=)
|
rs35141355
|
0.01707
|
NM_177965.4(CFAP418):c.*2330C>T
|
rs150859301
|
0.01689
|
NM_177965.4(CFAP418):c.*791G>T
|
rs140209136
|
0.01687
|
NM_201548.5(CERKL):c.*1044C>T
|
rs16867441
|
0.01678
|
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr)
|
rs78775072
|
0.01647
|
NM_018418.5(SPATA7):c.1255T>C (p.Leu419=)
|
rs112976233
|
0.01543
|
NM_001297.5(CNGB1):c.*281T>C
|
rs116564376
|
0.01516
|
NM_177965.4(CFAP418):c.*2166T>G
|
rs149998549
|
0.01510
|
NM_000554.6(CRX):c.*436G>T
|
rs759530877
|
0.01473
|
NM_001379270.1(CNGA1):c.300A>G (p.Glu100=)
|
rs76061451
|
0.01445
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=)
|
rs183536545
|
0.01287
|
NM_001142800.2(EYS):c.-459C>T
|
rs144371265
|
0.01261
|
NM_000283.4(PDE6B):c.2526C>T (p.Gly842=)
|
rs61733857
|
0.01240
|
NM_001379270.1(CNGA1):c.83G>A (p.Arg28Gln)
|
rs76537883
|
0.01212
|
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
NM_201548.5(CERKL):c.*295G>A
|
rs148226735
|
0.01161
|
NM_144596.4(TTC8):c.*57C>T
|
rs74079414
|
0.01106
|
NM_002032.3(FTH1):c.*389A>G
|
rs1801327
|
0.01102
|
NM_001201543.2(FAM161A):c.*1549G>T
|
rs7563900
|
0.01065
|
NM_144631.6(ZNF513):c.1224C>T (p.Arg408=)
|
rs61995753
|
0.01045
|
NM_006343.3(MERTK):c.878G>A (p.Arg293His)
|
rs34072093
|
0.01044
|
NM_001029883.3(PCARE):c.*1050C>T
|
rs36112528
|
0.01034
|
NM_201548.5(CERKL):c.*330C>T
|
rs115260661
|
0.00998
|
NM_001201543.2(FAM161A):c.*1100T>C
|
rs78512710
|
0.00922
|
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys)
|
rs115775983
|
0.00911
|
NM_001029883.3(PCARE):c.740T>C (p.Val247Ala)
|
rs77828062
|
0.00896
|
NM_004744.5(LRAT):c.*1155T>A
|
rs72683214
|
0.00883
|
NM_016247.4(IMPG2):c.*426G>A
|
rs151199078
|
0.00866
|
NM_144596.4(TTC8):c.625-5C>T
|
rs137853922
|
0.00807
|
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met)
|
rs147593839
|
0.00806
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_016247.4(IMPG2):c.*2682T>C
|
rs141519900
|
0.00761
|
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)
|
rs61753611
|
0.00740
|
NM_001297.5(CNGB1):c.*1518T>G
|
rs114514618
|
0.00733
|
NM_001297.5(CNGB1):c.*954T>C
|
rs114952307
|
0.00731
|
NM_000329.3(RPE65):c.399T>C (p.Leu133=)
|
rs59257923
|
0.00728
|
NM_001297.5(CNGB1):c.2700G>A (p.Thr900=)
|
rs72782250
|
0.00722
|
NM_006343.3(MERTK):c.2028C>T (p.Tyr676=)
|
rs56225811
|
0.00704
|
NM_006343.3(MERTK):c.1618G>A (p.Glu540Lys)
|
rs113485015
|
0.00703
|
NM_001029883.3(PCARE):c.*1425C>T
|
rs114274497
|
0.00675
|
NM_001077620.3(PRCD):c.74+14C>T
|
rs200645008
|
0.00674
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)
|
rs17711594
|
0.00665
|
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)
|
rs59691602
|
0.00655
|
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys)
|
rs201355503
|
0.00651
|
NM_001201543.2(FAM161A):c.*617G>A
|
rs188862164
|
0.00644
|
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln)
|
rs149314387
|
0.00644
|
NM_000326.5(RLBP1):c.807C>T (p.His269=)
|
rs62640017
|
0.00638
|
NM_001029883.3(PCARE):c.*2562G>C
|
rs188247308
|
0.00625
|
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=)
|
rs114282214
|
0.00622
|
NM_144631.6(ZNF513):c.1260C>T (p.Leu420=)
|
rs112828880
|
0.00620
|
NM_001077620.3(PRCD):c.*1259G>A
|
rs144852411
|
0.00616
|
NM_016247.4(IMPG2):c.*1542A>T
|
rs539098
|
0.00615
|
NM_001077620.3(PRCD):c.*1186G>A
|
rs568033840
|
0.00609
|
NM_006017.3(PROM1):c.1751A>G (p.His584Arg)
|
rs140027620
|
0.00608
|
NM_000440.3(PDE6A):c.*599C>T
|
rs150867395
|
0.00603
|
NM_144631.6(ZNF513):c.878G>A (p.Arg293Gln)
|
rs61740138
|
0.00591
|
NM_004744.5(LRAT):c.-15C>T
|
rs113018020
|
0.00590
|
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg)
|
rs74636274
|
0.00587
|
NM_000283.4(PDE6B):c.615C>T (p.Asp205=)
|
rs149293844
|
0.00577
|
NM_004744.5(LRAT):c.*3264G>A
|
rs115053323
|
0.00575
|
NM_002900.3(RBP3):c.1809C>T (p.Gly603=)
|
rs34044042
|
0.00571
|
NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys)
|
rs6733774
|
0.00570
|
NM_006017.3(PROM1):c.1911+14G>A
|
rs79077926
|
0.00565
|
NM_016247.4(IMPG2):c.*2658G>T
|
rs78391139
|
0.00550
|
NM_006343.3(MERTK):c.*439A>G
|
rs191525605
|
0.00540
|
NM_206933.4(USH2A):c.78T>C (p.Ala26=)
|
rs59139861
|
0.00539
|
NM_001201543.2(FAM161A):c.2122G>A (p.Glu708Lys)
|
rs77562614
|
0.00538
|
NM_001077620.3(PRCD):c.*1618C>T
|
rs77404579
|
0.00535
|
NM_000541.5(SAG):c.250C>T (p.Arg84Cys)
|
rs115857633
|
0.00530
|
NM_000541.5(SAG):c.231C>T (p.Asp77=)
|
rs79922016
|
0.00524
|
NM_206933.4(USH2A):c.4627+641G>A
|
rs146153666
|
0.00523
|
NM_000440.3(PDE6A):c.*178T>C
|
rs113302481
|
0.00521
|
NM_006017.3(PROM1):c.1683-3C>T
|
rs143470288
|
0.00518
|
NM_018418.5(SPATA7):c.-95C>T
|
rs114796215
|
0.00515
|
NM_001029883.3(PCARE):c.*2649C>T
|
rs74992908
|
0.00513
|
NM_001297.5(CNGB1):c.1500C>T (p.Thr500=)
|
rs75406397
|
0.00513
|
NM_014249.4(NR2E3):c.*558C>A
|
rs886051459
|
0.00506
|
NM_000885.6(ITGA4):c.*2381C>A
|
rs72883650
|
0.00503
|
NM_000329.3(RPE65):c.*339A>G
|
rs74084043
|
0.00496
|
NM_006017.3(PROM1):c.*684C>T
|
rs140362696
|
0.00496
|
NM_000541.5(SAG):c.301G>A (p.Ala101Thr)
|
rs141521563
|
0.00492
|
NM_001077620.3(PRCD):c.*1097T>A
|
rs76768775
|
0.00488
|
NM_001297.5(CNGB1):c.123G>A (p.Pro41=)
|
rs41482547
|
0.00487
|
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser)
|
rs192628905
|
0.00486
|
NM_177965.4(CFAP418):c.*536A>C
|
rs150311212
|
0.00470
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)
|
rs182322608
|
0.00464
|
NM_002900.3(RBP3):c.2416C>T (p.Arg806Cys)
|
rs35238500
|
0.00463
|
NM_001297.5(CNGB1):c.-47A>G
|
rs186471030
|
0.00462
|
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=)
|
rs142259966
|
0.00445
|
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)
|
rs144513453
|
0.00443
|
NM_002900.3(RBP3):c.*388G>A
|
rs58627053
|
0.00443
|
NM_000283.4(PDE6B):c.1635C>T (p.Phe545=)
|
rs141813304
|
0.00436
|
NM_001029883.3(PCARE):c.*1969G>A
|
rs143205929
|
0.00427
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
NM_000283.4(PDE6B):c.270C>T (p.Asp90=)
|
rs80344633
|
0.00422
|
NM_201548.5(CERKL):c.-63C>T
|
rs140924460
|
0.00414
|
NM_000326.5(RLBP1):c.796-7C>G
|
rs74029958
|
0.00409
|
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)
|
rs138886378
|
0.00409
|
NM_002900.3(RBP3):c.3381G>A (p.Gln1127=)
|
rs113381589
|
0.00409
|
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)
|
rs111947397
|
0.00404
|
NM_001077620.3(PRCD):c.*266C>T
|
rs72860161
|
0.00403
|
NM_000541.5(SAG):c.-69G>A
|
rs189763324
|
0.00397
|
NM_000440.3(PDE6A):c.933+4C>T
|
rs12109444
|
0.00393
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
NM_006899.5(IDH3B):c.117+6C>A
|
rs191680997
|
0.00388
|
NM_206933.4(USH2A):c.486-13G>A
|
rs116367260
|
0.00385
|
NM_205861.3(DHDDS):c.*2045T>A
|
rs76326144
|
0.00381
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_000283.4(PDE6B):c.1108-9C>T
|
rs200970775
|
0.00373
|
NM_201253.3(CRB1):c.*393T>C
|
rs147966959
|
0.00373
|
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)
|
rs145199539
|
0.00372
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_001201543.2(FAM161A):c.*1129A>C
|
rs76144251
|
0.00370
|
NM_201548.5(CERKL):c.313C>T (p.Arg105Trp)
|
rs149078111
|
0.00370
|
NM_000326.5(RLBP1):c.*356G>A
|
rs190236976
|
0.00366
|
NM_000283.4(PDE6B):c.1060-13G>A
|
rs147482093
|
0.00365
|
NM_000440.3(PDE6A):c.*1676T>C
|
rs115580452
|
0.00362
|
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
NM_205861.3(DHDDS):c.*128C>G
|
rs146706631
|
0.00352
|
NM_001029883.3(PCARE):c.*1525C>T
|
rs149247863
|
0.00349
|
NM_003322.6(TULP1):c.499+12G>C
|
rs185636479
|
0.00347
|
NM_014336.5(AIPL1):c.*576G>A
|
rs545350972
|
0.00336
|
NM_001012720.2(RGR):c.744+5A>G
|
rs143720091
|
0.00334
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)
|
rs113895168
|
0.00322
|
NM_000326.5(RLBP1):c.*217A>C
|
rs150636501
|
0.00319
|
NM_144596.4(TTC8):c.1401G>A (p.Pro467=)
|
rs114064158
|
0.00319
|
NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr)
|
rs72861054
|
0.00315
|
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val)
|
rs61733362
|
0.00312
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=)
|
rs1052029
|
0.00308
|
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=)
|
rs148735841
|
0.00308
|
NM_001077620.3(PRCD):c.*1650T>C
|
rs185494982
|
0.00306
|
NM_201548.5(CERKL):c.*573A>G
|
rs188892870
|
0.00302
|
NM_002900.3(RBP3):c.1631G>A (p.Arg544His)
|
rs41284962
|
0.00297
|
NM_001029883.3(PCARE):c.*982C>T
|
rs76693332
|
0.00293
|
NM_001142800.2(EYS):c.7697G>A (p.Gly2566Glu)
|
rs115058877
|
0.00293
|
NM_016247.4(IMPG2):c.*685A>G
|
rs537248333
|
0.00293
|
NM_001077620.3(PRCD):c.*1238G>A
|
rs189599263
|
0.00292
|
NM_000329.3(RPE65):c.*192A>G
|
rs142768806
|
0.00291
|
NM_000440.3(PDE6A):c.*1967C>T
|
rs538582690
|
0.00291
|
NM_144596.4(TTC8):c.-25G>A
|
rs7145692
|
0.00290
|
NM_001029883.3(PCARE):c.*1199G>C
|
rs74855521
|
0.00288
|
NM_001029883.3(PCARE):c.3395A>C (p.Glu1132Ala)
|
rs78874550
|
0.00287
|
NM_201548.5(CERKL):c.66C>G (p.Pro22=)
|
rs199762900
|
0.00287
|
NM_001077620.3(PRCD):c.*1480C>G
|
rs139602114
|
0.00286
|
NM_000541.5(SAG):c.525A>G (p.Arg175=)
|
rs199839554
|
0.00285
|
NM_001142800.2(EYS):c.2613C>T (p.Asp871=)
|
rs192059823
|
0.00284
|
NM_001029883.3(PCARE):c.2617A>G (p.Thr873Ala)
|
rs190462758
|
0.00281
|
NM_001029883.3(PCARE):c.*3063A>G
|
rs72861014
|
0.00280
|
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His)
|
rs140622968
|
0.00277
|
NM_001297.5(CNGB1):c.3147C>T (p.His1049=)
|
rs200581517
|
0.00275
|
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)
|
rs149949619
|
0.00274
|
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)
|
rs139822086
|
0.00273
|
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys)
|
rs77384282
|
0.00272
|
NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu)
|
rs116450347
|
0.00272
|
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)
|
rs148594393
|
0.00272
|
NM_000554.6(CRX):c.*756T>A
|
rs886054553
|
0.00270
|
NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser)
|
rs200318120
|
0.00269
|
NM_001297.5(CNGB1):c.*1429T>C
|
rs139212660
|
0.00267
|
NM_001029883.3(PCARE):c.*3050C>T
|
rs188267834
|
0.00264
|
NM_144596.4(TTC8):c.*93G>A
|
rs116740320
|
0.00263
|
NM_001297.5(CNGB1):c.1580C>T (p.Ala527Val)
|
rs78292723
|
0.00257
|
NM_001297.5(CNGB1):c.159+14C>T
|
rs199591689
|
0.00255
|
NM_201253.3(CRB1):c.600A>G (p.Thr200=)
|
rs77713666
|
0.00254
|
NM_000440.3(PDE6A):c.*2383G>A
|
rs77109719
|
0.00253
|
NM_000541.5(SAG):c.374C>T (p.Thr125Met)
|
rs137886124
|
0.00247
|
NM_000440.3(PDE6A):c.*1315G>A
|
rs144468326
|
0.00244
|
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)
|
rs111033479
|
0.00240
|
NM_000326.5(RLBP1):c.-199T>C
|
rs117263224
|
0.00239
|
NM_000554.6(CRX):c.*839C>T
|
rs541379131
|
0.00239
|
NM_201548.5(CERKL):c.157G>A (p.Glu53Lys)
|
rs141389059
|
0.00238
|
NM_000283.4(PDE6B):c.711+10C>T
|
rs201100689
|
0.00237
|
NM_001379270.1(CNGA1):c.*342T>C
|
rs186362115
|
0.00237
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_000440.3(PDE6A):c.-11G>T
|
rs112926956
|
0.00230
|
NM_001297.5(CNGB1):c.761+15A>G
|
rs187864931
|
0.00227
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
NM_016247.4(IMPG2):c.*388A>G
|
rs114271586
|
0.00226
|
NM_000440.3(PDE6A):c.*1703A>C
|
rs149268409
|
0.00224
|
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)
|
rs143327210
|
0.00223
|
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)
|
rs149028760
|
0.00222
|
NM_001297.5(CNGB1):c.376G>C (p.Ala126Pro)
|
rs200332871
|
0.00219
|
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)
|
rs34682727
|
0.00218
|
NM_000541.5(SAG):c.588G>A (p.Ala196=)
|
rs190853693
|
0.00217
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_000329.3(RPE65):c.*511G>A
|
rs149449684
|
0.00214
|
NM_144631.6(ZNF513):c.781G>A (p.Val261Met)
|
rs61742428
|
0.00214
|
NM_001297.5(CNGB1):c.3340G>A (p.Ala1114Thr)
|
rs200242407
|
0.00213
|
NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg)
|
rs61751223
|
0.00212
|
NM_004744.5(LRAT):c.*3263C>T
|
rs28469192
|
0.00212
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00212
|
NM_000322.5(PRPH2):c.-60C>T
|
rs144011444
|
0.00211
|
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg)
|
rs140419673
|
0.00205
|
NM_002900.3(RBP3):c.843C>T (p.Pro281=)
|
rs35186791
|
0.00203
|
NM_004744.5(LRAT):c.*3T>G
|
rs200942685
|
0.00202
|
NM_001142800.2(EYS):c.-337T>A
|
rs145321084
|
0.00201
|
NM_201548.5(CERKL):c.*1023G>A
|
rs192210010
|
0.00201
|
NM_206933.4(USH2A):c.879T>G (p.Leu293=)
|
rs3767698
|
0.00201
|
NM_001077620.3(PRCD):c.*1508C>T
|
rs181845864
|
0.00200
|
NM_002900.3(RBP3):c.1933C>T (p.His645Tyr)
|
rs138305522
|
0.00200
|
NM_016247.4(IMPG2):c.*180T>G
|
rs193277987
|
0.00195
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596
|
0.00195
|
NM_006017.3(PROM1):c.-25T>A
|
rs149845694
|
0.00194
|
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)
|
rs182248363
|
0.00192
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_006343.3(MERTK):c.*193T>C
|
rs79712097
|
0.00192
|
NM_006017.3(PROM1):c.1579-6T>C
|
rs181261277
|
0.00190
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_000440.3(PDE6A):c.102C>T (p.Ser34=)
|
rs140009042
|
0.00188
|
NM_001142800.2(EYS):c.-414G>A
|
rs181146743
|
0.00187
|
NM_012469.4(PRPF6):c.-99C>G
|
rs562369921
|
0.00187
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_001278293.3(ARL6):c.*495C>T
|
rs188498639
|
0.00186
|
NM_000283.4(PDE6B):c.*474C>G
|
rs577140751
|
0.00180
|
NM_000440.3(PDE6A):c.*1515G>A
|
rs536740900
|
0.00180
|
NM_001297.5(CNGB1):c.2475C>T (p.Tyr825=)
|
rs200934249
|
0.00180
|
NM_201548.5(CERKL):c.*567T>C
|
rs10490690
|
0.00179
|
NM_000883.4(IMPDH1):c.*721G>A
|
rs186714165
|
0.00177
|
NM_016247.4(IMPG2):c.*471A>T
|
rs191621154
|
0.00177
|
NM_004744.5(LRAT):c.*3654T>C
|
rs191784588
|
0.00176
|
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)
|
rs151338404
|
0.00176
|
NM_001029883.3(PCARE):c.*3037G>A
|
rs569687522
|
0.00175
|
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)
|
rs191846522
|
0.00175
|
NM_001278293.3(ARL6):c.-137A>C
|
rs192372191
|
0.00174
|
NM_004744.5(LRAT):c.*3712G>C
|
rs144961748
|
0.00172
|
NM_000541.5(SAG):c.-223C>G
|
rs140569105
|
0.00170
|
NM_001029883.3(PCARE):c.*1798C>T
|
rs115788507
|
0.00170
|
NM_144631.6(ZNF513):c.-91C>T
|
rs530824832
|
0.00169
|
NM_206933.4(USH2A):c.4627+562C>T
|
rs769348449
|
0.00169
|
NM_016247.4(IMPG2):c.1893G>A (p.Pro631=)
|
rs149291477
|
0.00168
|
NM_177965.4(CFAP418):c.126G>C (p.Arg42=)
|
rs115853053
|
0.00168
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_206933.4(USH2A):c.4627+1133G>A
|
rs138139294
|
0.00167
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val)
|
rs148019592
|
0.00165
|
NM_201548.5(CERKL):c.27G>A (p.Arg9=)
|
rs368855330
|
0.00164
|
NM_144631.6(ZNF513):c.290C>T (p.Ala97Val)
|
rs35554630
|
0.00163
|
NM_201548.5(CERKL):c.820+9G>A
|
rs189638090
|
0.00163
|
NM_206933.4(USH2A):c.4627+281T>C
|
rs570544314
|
0.00163
|
NM_177965.4(CFAP418):c.*2102G>A
|
rs184350873
|
0.00162
|
NM_022367.4(SEMA4A):c.*102C>G
|
rs76347207
|
0.00161
|
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)
|
rs200936863
|
0.00160
|
NM_201548.5(CERKL):c.783T>C (p.Pro261=)
|
rs77741297
|
0.00158
|
NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu)
|
rs148247227
|
0.00157
|
NM_004744.5(LRAT):c.*3714T>C
|
rs183640442
|
0.00155
|
NM_177965.4(CFAP418):c.528A>G (p.Thr176=)
|
rs143748636
|
0.00155
|
NM_000326.5(RLBP1):c.924C>G (p.Pro308=)
|
rs144615495
|
0.00153
|
NM_001142800.2(EYS):c.1899A>G (p.Gln633=)
|
rs373197894
|
0.00153
|
NM_004744.5(LRAT):c.*3819T>C
|
rs191600425
|
0.00153
|
NM_016247.4(IMPG2):c.*2592T>C
|
rs555283960
|
0.00153
|
NM_022367.4(SEMA4A):c.-165G>A
|
rs113436119
|
0.00153
|
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)
|
rs200620291
|
0.00152
|
NM_001077620.3(PRCD):c.*265C>T
|
rs541445094
|
0.00151
|
NM_006017.3(PROM1):c.2211+7C>T
|
rs372262346
|
0.00150
|
NM_000554.6(CRX):c.*683G>A
|
rs867379668
|
0.00149
|
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu)
|
rs145623359
|
0.00148
|
NM_000440.3(PDE6A):c.*51A>T
|
rs372592244
|
0.00146
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
NM_001029883.3(PCARE):c.*399C>T
|
rs571534411
|
0.00145
|
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)
|
rs138464813
|
0.00145
|
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)
|
rs151104285
|
0.00143
|
NM_000326.5(RLBP1):c.141+6G>A
|
rs181321141
|
0.00142
|
NM_000541.5(SAG):c.420A>G (p.Pro140=)
|
rs150046934
|
0.00141
|
NM_001029883.3(PCARE):c.*1930C>T
|
rs151223779
|
0.00141
|
NM_144596.4(TTC8):c.1077C>T (p.Asn359=)
|
rs150896551
|
0.00141
|
NM_001029883.3(PCARE):c.*658G>C
|
rs143745034
|
0.00140
|
NM_177965.4(CFAP418):c.*2492C>T
|
rs529486839
|
0.00140
|
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)
|
rs144822294
|
0.00138
|
NM_001297.5(CNGB1):c.*1606G>A
|
rs185229037
|
0.00137
|
NM_002032.3(FTH1):c.*396A>G
|
rs565138844
|
0.00136
|
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=)
|
rs189042259
|
0.00135
|
NM_206933.4(USH2A):c.4627+981T>A
|
rs41277220
|
0.00135
|
NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile)
|
rs144935927
|
0.00133
|
NM_001142800.2(EYS):c.1184+14T>C
|
rs182780299
|
0.00132
|
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn)
|
rs182151153
|
0.00132
|
NM_001201543.2(FAM161A):c.1989C>T (p.Val663=)
|
rs201362403
|
0.00131
|
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr)
|
rs201407276
|
0.00131
|
NM_014014.5(SNRNP200):c.*61T>C
|
rs571136350
|
0.00130
|
NM_000541.5(SAG):c.31G>A (p.Glu11Lys)
|
rs200078242
|
0.00129
|
NM_006915.3(RP2):c.*798T>C
|
rs77536091
|
0.00129
|
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)
|
rs182096110
|
0.00128
|
NM_016247.4(IMPG2):c.*2242G>A
|
rs531023160
|
0.00128
|
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)
|
rs144289912
|
0.00126
|
NM_000440.3(PDE6A):c.918G>A (p.Arg306=)
|
rs139553131
|
0.00124
|
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)
|
rs772339340
|
0.00124
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
NM_000883.4(IMPDH1):c.*613T>C
|
rs11549800
|
0.00123
|
NM_012469.4(PRPF6):c.-54C>T
|
rs750275951
|
0.00123
|
NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser)
|
rs184500376
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_003322.6(TULP1):c.544A>G (p.Arg182Gly)
|
rs142641513
|
0.00121
|
NM_002900.3(RBP3):c.2619C>T (p.Ala873=)
|
rs146045906
|
0.00120
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
NM_000440.3(PDE6A):c.-57C>T
|
rs560865338
|
0.00116
|
NM_006343.3(MERTK):c.960+9C>A
|
rs373198570
|
0.00116
|
NM_016247.4(IMPG2):c.*3514C>T
|
rs187040403
|
0.00116
|
NM_201548.5(CERKL):c.1073+11T>C
|
rs186100602
|
0.00116
|
NM_144631.6(ZNF513):c.749G>A (p.Arg250Gln)
|
rs141337532
|
0.00115
|
NM_001012720.2(RGR):c.*331C>A
|
rs563165735
|
0.00113
|
NM_003322.6(TULP1):c.797G>T (p.Gly266Val)
|
rs150480343
|
0.00111
|
NM_201253.3(CRB1):c.2843-13C>T
|
rs199808176
|
0.00109
|
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr)
|
rs376807770
|
0.00108
|
NM_001201543.2(FAM161A):c.*196A>C
|
rs545909945
|
0.00108
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
NM_000440.3(PDE6A):c.*1693A>C
|
rs116427816
|
0.00106
|
NM_001029883.3(PCARE):c.2502T>C (p.Pro834=)
|
rs184644658
|
0.00106
|
NM_001029883.3(PCARE):c.99G>A (p.Gln33=)
|
rs146455733
|
0.00106
|
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn)
|
rs146170855
|
0.00105
|
NM_002098.6(GUCA1B):c.*428C>T
|
rs555435194
|
0.00105
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
NM_000554.6(CRX):c.*727C>T
|
rs1360823353
|
0.00103
|
NM_001029883.3(PCARE):c.*2558C>T
|
rs545805260
|
0.00103
|
NM_001029883.3(PCARE):c.*1785C>T
|
rs544366142
|
0.00102
|
NM_006915.3(RP2):c.*1926G>A
|
rs782390676
|
0.00102
|
NM_014336.5(AIPL1):c.234C>T (p.Ser78=)
|
rs62635774
|
0.00102
|
NM_000440.3(PDE6A):c.2568C>T (p.Ser856=)
|
rs147000954
|
0.00099
|
NM_001029883.3(PCARE):c.3114G>C (p.Val1038=)
|
rs140790266
|
0.00099
|
NM_203288.2(RP9):c.*75C>T
|
rs369792814
|
0.00099
|
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val)
|
rs138315990
|
0.00098
|
NM_001201543.2(FAM161A):c.*1368A>C
|
rs148352743
|
0.00098
|
NM_002032.3(FTH1):c.*312A>G
|
rs756884770
|
0.00098
|
NM_016247.4(IMPG2):c.335-13C>T
|
rs201277460
|
0.00098
|
NM_000539.3(RHO):c.*1455T>C
|
rs552362456
|
0.00096
|
NM_016247.4(IMPG2):c.*810C>T
|
rs536881753
|
0.00096
|
NM_001354768.3(NRL):c.*1127T>C
|
rs113119768
|
0.00095
|
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val)
|
rs148598583
|
0.00094
|
NM_001297.5(CNGB1):c.*1680T>C
|
rs560377423
|
0.00094
|
NM_001012720.2(RGR):c.318T>C (p.Ser106=)
|
rs143761967
|
0.00093
|
NM_001029883.3(PCARE):c.1545A>G (p.Gln515=)
|
rs200427237
|
0.00093
|
NM_201548.5(CERKL):c.735G>C (p.Leu245=)
|
rs140898616
|
0.00093
|
NM_000440.3(PDE6A):c.498G>A (p.Val166=)
|
rs138274547
|
0.00092
|
NM_001029883.3(PCARE):c.2424G>A (p.Leu808=)
|
rs371909714
|
0.00091
|
NM_006269.2(RP1):c.-51A>G
|
rs572206979
|
0.00090
|
NM_001379270.1(CNGA1):c.*274C>T
|
rs141978020
|
0.00089
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)
|
rs144498273
|
0.00088
|
NM_001029883.3(PCARE):c.*2442G>A
|
rs543543846
|
0.00088
|
NM_001297.5(CNGB1):c.*116G>A
|
rs182224027
|
0.00088
|
NM_004183.4(BEST1):c.482-15C>T
|
rs201010315
|
0.00088
|
NM_006017.3(PROM1):c.714A>G (p.Gly238=)
|
rs201662148
|
0.00088
|
NM_177965.4(CFAP418):c.*2498A>G
|
rs554334722
|
0.00088
|
NM_201548.5(CERKL):c.*1207C>G
|
rs189163426
|
0.00088
|
NM_206933.4(USH2A):c.3157+12C>T
|
rs199853422
|
0.00088
|
NM_000329.3(RPE65):c.1129-14A>G
|
rs113329701
|
0.00086
|
NM_000539.3(RHO):c.*1599G>A
|
rs576980794
|
0.00086
|
NM_006343.3(MERTK):c.1262G>A (p.Arg421Gln)
|
rs138908058
|
0.00086
|
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)
|
rs142244640
|
0.00084
|
NM_001201543.2(FAM161A):c.*1136G>T
|
rs191936453
|
0.00084
|
NM_004744.5(LRAT):c.*2347C>T
|
rs528985596
|
0.00084
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
NM_006017.3(PROM1):c.*1149A>G
|
rs543722299
|
0.00083
|
NM_016247.4(IMPG2):c.*3949C>T
|
rs190218454
|
0.00083
|
NM_000326.5(RLBP1):c.303C>T (p.Arg101=)
|
rs144254383
|
0.00082
|
NM_000440.3(PDE6A):c.343G>A (p.Val115Ile)
|
rs147159579
|
0.00081
|
NM_001012720.2(RGR):c.454C>A (p.His152Asn)
|
rs150808273
|
0.00081
|
NM_001012720.2(RGR):c.493G>T (p.Asp165Tyr)
|
rs149516779
|
0.00081
|
NM_001142800.2(EYS):c.2562C>T (p.Asp854=)
|
rs188011013
|
0.00081
|
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu)
|
rs200374024
|
0.00081
|
NM_000440.3(PDE6A):c.765C>T (p.Ile255=)
|
rs141300510
|
0.00080
|
NM_001370348.2(PHF3):c.*6610A>G
|
rs572403267
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
|
rs144562730
|
0.00079
|
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)
|
rs62645939
|
0.00079
|
NM_001379270.1(CNGA1):c.360C>T (p.Asn120=)
|
rs147591591
|
0.00079
|
NM_002900.3(RBP3):c.120C>T (p.Cys40=)
|
rs373417235
|
0.00079
|
NM_016247.4(IMPG2):c.*3774G>A
|
rs773704860
|
0.00078
|
NM_000283.4(PDE6B):c.1401+4C>T
|
rs113246945
|
0.00077
|
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys)
|
rs150951106
|
0.00076
|
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu)
|
rs146913105
|
0.00076
|
NM_000322.5(PRPH2):c.*351G>A
|
rs551934443
|
0.00075
|
NM_001029883.3(PCARE):c.*1157G>A
|
rs369999271
|
0.00075
|
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe)
|
rs190009374
|
0.00075
|
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=)
|
rs539304668
|
0.00075
|
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp)
|
rs142985827
|
0.00075
|
NM_006915.3(RP2):c.*1947C>G
|
rs781995791
|
0.00074
|
NM_000283.4(PDE6B):c.1083C>T (p.Ser361=)
|
rs142802752
|
0.00073
|
NM_001029883.3(PCARE):c.*2595A>G
|
rs780734864
|
0.00073
|
NM_001379270.1(CNGA1):c.-59C>T
|
rs752798829
|
0.00073
|
NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro)
|
rs141071579
|
0.00073
|
NM_006269.2(RP1):c.228C>T (p.Leu76=)
|
rs142600056
|
0.00073
|
NM_014014.5(SNRNP200):c.*331G>C
|
rs557818805
|
0.00073
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_016247.4(IMPG2):c.1169G>A (p.Arg390His)
|
rs139255481
|
0.00072
|
NM_153265.3(EML3):c.-298C>T
|
rs866691973
|
0.00072
|
NM_177965.4(CFAP418):c.*2009C>T
|
rs534647880
|
0.00072
|
NM_000440.3(PDE6A):c.940A>C (p.Asn314His)
|
rs150755165
|
0.00071
|
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His)
|
rs137853902
|
0.00071
|
NM_001379270.1(CNGA1):c.483T>C (p.Tyr161=)
|
rs201341924
|
0.00071
|
NM_002900.3(RBP3):c.927C>T (p.Ala309=)
|
rs75452094
|
0.00071
|
NM_205861.3(DHDDS):c.*515G>T
|
rs747837144
|
0.00071
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_000283.4(PDE6B):c.852+12G>A
|
rs201676629
|
0.00070
|
NM_001379270.1(CNGA1):c.545+11T>C
|
rs187802155
|
0.00070
|
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)
|
rs200520976
|
0.00070
|
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)
|
rs148938083
|
0.00069
|
NM_001029883.3(PCARE):c.*1746G>A
|
rs577941529
|
0.00068
|
NM_001077620.3(PRCD):c.*932C>T
|
rs117784164
|
0.00068
|
NM_001242957.3(MAK):c.359-13G>A
|
rs76972797
|
0.00068
|
NM_006017.3(PROM1):c.*189A>G
|
rs537324748
|
0.00068
|
NM_016247.4(IMPG2):c.392G>A (p.Arg131His)
|
rs147901568
|
0.00068
|
NM_001031710.3(KLHL7):c.-145C>T
|
rs545540476
|
0.00067
|
NM_001142800.2(EYS):c.7056-15T>A
|
rs139056492
|
0.00067
|
NM_001278293.3(ARL6):c.*470G>A
|
rs184213166
|
0.00067
|
NM_174878.3(CLRN1):c.433+1061A>T
|
rs567709615
|
0.00067
|
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met)
|
rs116246250
|
0.00067
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys)
|
rs201186180
|
0.00066
|
NM_000554.6(CRX):c.*2113A>G
|
rs555800382
|
0.00065
|
NM_001297.5(CNGB1):c.*1018A>C
|
rs146438867
|
0.00065
|
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)
|
rs62617075
|
0.00065
|
NM_001297.5(CNGB1):c.*1637C>T
|
rs192644670
|
0.00064
|
NM_006269.2(RP1):c.5296A>C (p.Asn1766His)
|
rs147009600
|
0.00064
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
NM_206933.4(USH2A):c.4627+801C>G
|
rs41277222
|
0.00064
|
NM_001029883.3(PCARE):c.*283G>A
|
rs189553973
|
0.00063
|
NM_016247.4(IMPG2):c.1582A>G (p.Ile528Val)
|
rs142710242
|
0.00063
|
NM_201253.3(CRB1):c.3750-3T>C
|
rs187937543
|
0.00063
|
NM_014748.4(SNX17):c.*797G>A
|
rs148848066
|
0.00062
|
NM_016247.4(IMPG2):c.-131G>A
|
rs537403217
|
0.00062
|
NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala)
|
rs148744804
|
0.00062
|
NM_000283.4(PDE6B):c.1218C>T (p.Asp406=)
|
rs148190219
|
0.00061
|
NM_001029883.3(PCARE):c.103G>A (p.Gly35Arg)
|
rs187178339
|
0.00061
|
NM_001142800.2(EYS):c.1459+5C>T
|
rs200387978
|
0.00061
|
NM_002900.3(RBP3):c.126G>A (p.Pro42=)
|
rs146175391
|
0.00061
|
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser)
|
rs139819099
|
0.00061
|
NM_006899.5(IDH3B):c.*253T>C
|
rs140155681
|
0.00061
|
NM_015629.4(PRPF31):c.-9+3G>A
|
rs762066202
|
0.00061
|
NM_000554.6(CRX):c.28C>G (p.His10Asp)
|
rs139340178
|
0.00060
|
NM_001029883.3(PCARE):c.*413G>A
|
rs536100561
|
0.00060
|
NM_000329.3(RPE65):c.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
NM_000440.3(PDE6A):c.1408-11G>A
|
rs201527437
|
0.00059
|
NM_014336.5(AIPL1):c.*1527T>G
|
rs549099597
|
0.00059
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_144596.4(TTC8):c.*83A>G
|
rs147325843
|
0.00059
|
NM_144596.4(TTC8):c.330-15T>A
|
rs187484893
|
0.00059
|
NM_177965.4(CFAP418):c.*1870T>A
|
rs767822765
|
0.00059
|
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)
|
rs202029748
|
0.00058
|
NM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu)
|
rs138435590
|
0.00058
|
NM_206933.4(USH2A):c.485+12T>C
|
rs201857884
|
0.00058
|
NM_000440.3(PDE6A):c.*2138G>A
|
rs756742673
|
0.00057
|
NM_001142800.2(EYS):c.-521C>T
|
rs769167992
|
0.00057
|
NM_201253.3(CRB1):c.*412T>C
|
rs564341986
|
0.00057
|
NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu)
|
rs138682290
|
0.00056
|
NM_001142800.2(EYS):c.740C>T (p.Pro247Leu)
|
rs367977860
|
0.00056
|
NM_006269.2(RP1):c.4563C>T (p.Asn1521=)
|
rs150524359
|
0.00056
|
NM_205861.3(DHDDS):c.*480A>G
|
rs552046225
|
0.00056
|
NM_206933.4(USH2A):c.4627+411A>G
|
rs772732997
|
0.00056
|
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His)
|
rs201304559
|
0.00055
|
NM_001297.5(CNGB1):c.2370-9C>T
|
rs374373659
|
0.00055
|
NM_002900.3(RBP3):c.1141G>C (p.Glu381Gln)
|
rs139299230
|
0.00055
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_000440.3(PDE6A):c.*2461C>T
|
rs551329710
|
0.00054
|
NM_001142800.2(EYS):c.716C>T (p.Ala239Val)
|
rs150140204
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)
|
rs61755775
|
0.00053
|
NM_000327.4(ROM1):c.323C>T (p.Thr108Met)
|
rs146358003
|
0.00053
|
NM_006915.3(RP2):c.*504T>A
|
rs782102892
|
0.00053
|
NM_012469.4(PRPF6):c.1306-7C>T
|
rs373810213
|
0.00053
|
NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu)
|
rs371853056
|
0.00053
|
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser)
|
rs151110889
|
0.00053
|
NM_001297.5(CNGB1):c.3717G>T (p.Ser1239=)
|
rs202083169
|
0.00052
|
NM_177976.3(ARL6):c.-375C>T
|
rs536935620
|
0.00052
|
NM_201548.5(CERKL):c.*979C>T
|
rs200370399
|
0.00052
|
NM_201548.5(CERKL):c.-71G>T
|
rs775116012
|
0.00052
|
NM_000440.3(PDE6A):c.*951C>T
|
rs565361431
|
0.00051
|
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys)
|
rs80151896
|
0.00051
|
NM_001142800.2(EYS):c.-207A>G
|
rs370140172
|
0.00051
|
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr)
|
rs201449358
|
0.00051
|
NM_014748.4(SNX17):c.*697C>T
|
rs560324766
|
0.00051
|
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)
|
rs142224492
|
0.00051
|
NM_201548.5(CERKL):c.*1212A>G
|
rs138526637
|
0.00051
|
NM_000322.5(PRPH2):c.*1408G>C
|
rs573667549
|
0.00050
|
NM_001297.5(CNGB1):c.*321G>C
|
rs77128930
|
0.00050
|
NM_002900.3(RBP3):c.3667C>T (p.Leu1223Phe)
|
rs143507852
|
0.00050
|
NM_016247.4(IMPG2):c.*3974A>G
|
rs528342516
|
0.00050
|
NM_205861.3(DHDDS):c.*988C>T
|
rs762077449
|
0.00050
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_000326.5(RLBP1):c.306A>C (p.Ala102=)
|
rs143817941
|
0.00049
|
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)
|
rs778752557
|
0.00049
|
NM_016247.4(IMPG2):c.*2622A>G
|
rs768294566
|
0.00049
|
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=)
|
rs114100439
|
0.00048
|
NM_000329.3(RPE65):c.*588C>A
|
rs541546843
|
0.00048
|
NM_000440.3(PDE6A):c.*2889C>G
|
rs757612877
|
0.00048
|
NM_000440.3(PDE6A):c.2238T>G (p.Gly746=)
|
rs145809648
|
0.00048
|
NM_000541.5(SAG):c.*98G>A
|
rs184255686
|
0.00048
|
NM_001029883.3(PCARE):c.*2512G>A
|
rs761750223
|
0.00048
|
NM_004744.5(LRAT):c.*3980T>C
|
rs191125324
|
0.00048
|
NM_006915.3(RP2):c.*746C>T
|
rs782701065
|
0.00048
|
NM_205861.3(DHDDS):c.*1769G>A
|
rs74698108
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_002098.6(GUCA1B):c.*868G>A
|
rs548674194
|
0.00047
|
NM_006343.3(MERTK):c.2142G>C (p.Leu714=)
|
rs200363872
|
0.00047
|
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys)
|
rs144590560
|
0.00046
|
NM_000539.3(RHO):c.*948T>C
|
rs529674071
|
0.00046
|
NM_001029883.3(PCARE):c.*2207C>T
|
rs187757111
|
0.00046
|
NM_001297.5(CNGB1):c.*228T>G
|
rs183796279
|
0.00046
|
NM_003322.6(TULP1):c.823-4A>G
|
rs200264819
|
0.00046
|
NM_014336.5(AIPL1):c.*150A>C
|
rs886053266
|
0.00046
|
NM_177965.4(CFAP418):c.269A>G (p.Asn90Ser)
|
rs199731969
|
0.00046
|
NM_201253.3(CRB1):c.3878+15A>T
|
rs200217112
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)
|
rs147010346
|
0.00045
|
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys)
|
rs192843629
|
0.00045
|
NM_006343.3(MERTK):c.*310A>G
|
rs886054763
|
0.00045
|
NM_014014.5(SNRNP200):c.574+9G>A
|
rs145559167
|
0.00045
|
NM_016247.4(IMPG2):c.*3825G>A
|
rs181867679
|
0.00045
|
NM_144631.6(ZNF513):c.1488C>T (p.His496=)
|
rs146066701
|
0.00045
|
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)
|
rs142090517
|
0.00045
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
NM_001012720.2(RGR):c.229C>T (p.Leu77Phe)
|
rs146536539
|
0.00044
|
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)
|
rs200696965
|
0.00044
|
NM_004744.5(LRAT):c.-1-12T>C
|
rs117851476
|
0.00044
|
NM_000554.6(CRX):c.*392G>A
|
rs886054550
|
0.00043
|
NM_000883.4(IMPDH1):c.*102G>T
|
rs541712803
|
0.00043
|
NM_001297.5(CNGB1):c.1024A>G (p.Lys342Glu)
|
rs201203400
|
0.00043
|
NM_002900.3(RBP3):c.2856T>C (p.Tyr952=)
|
rs370173809
|
0.00043
|
NM_004744.5(LRAT):c.*640T>C
|
rs574458445
|
0.00043
|
NM_201548.5(CERKL):c.*160T>G
|
rs185476460
|
0.00043
|
NM_205861.3(DHDDS):c.-53T>G
|
rs375098683
|
0.00043
|
NM_000322.5(PRPH2):c.*20C>T
|
rs180775924
|
0.00042
|
NM_000322.5(PRPH2):c.*592A>T
|
rs573416213
|
0.00042
|
NM_000539.3(RHO):c.*1179T>C
|
rs569761830
|
0.00042
|
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=)
|
rs369633003
|
0.00042
|
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu)
|
rs145234666
|
0.00042
|
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)
|
rs146646008
|
0.00041
|
NM_000326.5(RLBP1):c.795+15C>T
|
rs181863443
|
0.00041
|
NM_000539.3(RHO):c.*741T>C
|
rs753496233
|
0.00041
|
NM_000554.6(CRX):c.*2821G>A
|
rs571610746
|
0.00041
|
NM_001029883.3(PCARE):c.102C>T (p.Gly34=)
|
rs149915190
|
0.00041
|
NM_001379270.1(CNGA1):c.1407A>G (p.Thr469=)
|
rs201553765
|
0.00041
|
NM_006899.5(IDH3B):c.684G>A (p.Leu228=)
|
rs143110856
|
0.00041
|
NM_016247.4(IMPG2):c.1495C>A (p.Pro499Thr)
|
rs143635399
|
0.00041
|
NM_018418.5(SPATA7):c.-111G>A
|
rs886050871
|
0.00041
|
NM_001142800.2(EYS):c.2598C>T (p.Cys866=)
|
rs183814213
|
0.00040
|
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581
|
0.00040
|
NM_001370348.2(PHF3):c.*6359T>G
|
rs193035948
|
0.00039
|
NM_002602.4(PDE6G):c.*4G>A
|
rs200236628
|
0.00039
|
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val)
|
rs17854138
|
0.00039
|
NM_006445.4(PRPF8):c.1720-7A>G
|
rs200224854
|
0.00039
|
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg)
|
rs148114532
|
0.00039
|
NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln)
|
rs201865787
|
0.00038
|
NM_000440.3(PDE6A):c.*1780C>T
|
rs184935833
|
0.00038
|
NM_001029883.3(PCARE):c.*988C>G
|
rs563291434
|
0.00038
|
NM_001077620.3(PRCD):c.*115G>A
|
rs758393407
|
0.00038
|
NM_006899.5(IDH3B):c.252C>T (p.His84=)
|
rs139159095
|
0.00038
|
NM_201548.5(CERKL):c.97T>G (p.Leu33Val)
|
rs554167374
|
0.00038
|
NM_001297.5(CNGB1):c.2850C>T (p.Ile950=)
|
rs563734833
|
0.00037
|
NM_006017.3(PROM1):c.-168G>A
|
rs180926533
|
0.00037
|
NM_006269.2(RP1):c.615+3G>A
|
rs199632605
|
0.00037
|
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)
|
rs374409854
|
0.00036
|
NM_006017.3(PROM1):c.2112C>T (p.Arg704=)
|
rs375358457
|
0.00036
|
NM_014014.5(SNRNP200):c.3640-15T>C
|
rs200824314
|
0.00036
|
NM_177965.4(CFAP418):c.*1629T>G
|
rs532315210
|
0.00036
|
NM_001029883.3(PCARE):c.867C>T (p.Thr289=)
|
rs199729963
|
0.00035
|
NM_001142800.2(EYS):c.-200G>A
|
rs368932132
|
0.00035
|
NM_001379270.1(CNGA1):c.349G>A (p.Glu117Lys)
|
rs539600817
|
0.00035
|
NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=)
|
rs75163090
|
0.00035
|
NM_144631.6(ZNF513):c.519C>T (p.Ser173=)
|
rs199520071
|
0.00035
|
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)
|
rs145141811
|
0.00035
|
NM_201253.3(CRB1):c.2976A>G (p.Ala992=)
|
rs200379694
|
0.00035
|
NM_206933.4(USH2A):c.4627+561T>C
|
rs566131886
|
0.00035
|
NM_000329.3(RPE65):c.102C>A (p.Ile34=)
|
rs146357166
|
0.00034
|
NM_000541.5(SAG):c.473C>A (p.Thr158Lys)
|
rs199537652
|
0.00034
|
NM_001077620.3(PRCD):c.*477C>T
|
rs965177016
|
0.00034
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_001142800.2(EYS):c.3568+5T>C
|
rs539477235
|
0.00034
|
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val)
|
rs183144150
|
0.00034
|
NM_001201543.2(FAM161A):c.982A>G (p.Ile328Val)
|
rs192680593
|
0.00034
|
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)
|
rs192912733
|
0.00034
|
NM_201548.5(CERKL):c.102G>T (p.Thr34=)
|
rs149346187
|
0.00034
|
NM_000283.4(PDE6B):c.2352+3G>A
|
rs111504036
|
0.00033
|
NM_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
NM_000440.3(PDE6A):c.298C>T (p.Arg100Trp)
|
rs200540105
|
0.00033
|
NM_001201543.2(FAM161A):c.*83G>T
|
rs750644248
|
0.00033
|
NM_006017.3(PROM1):c.1911+8G>A
|
rs370302107
|
0.00033
|
NM_006343.3(MERTK):c.98C>T (p.Pro33Leu)
|
rs144751432
|
0.00033
|
NM_022367.4(SEMA4A):c.*666C>A
|
rs181676637
|
0.00033
|
NM_000283.4(PDE6B):c.1401+5G>A
|
rs201623488
|
0.00032
|
NM_000283.4(PDE6B):c.966C>T (p.His322=)
|
rs143711050
|
0.00032
|
NM_000440.3(PDE6A):c.1614A>G (p.Pro538=)
|
rs139697733
|
0.00032
|
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)
|
rs61748442
|
0.00032
|
NM_001297.5(CNGB1):c.*967C>T
|
rs796880965
|
0.00032
|
NM_014014.5(SNRNP200):c.4448G>A (p.Arg1483Gln)
|
rs779888644
|
0.00032
|
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met)
|
rs148056371
|
0.00032
|
NM_000440.3(PDE6A):c.*1057C>T
|
rs144135425
|
0.00031
|
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=)
|
rs72624957
|
0.00031
|
NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly)
|
rs201690244
|
0.00031
|
NM_001379270.1(CNGA1):c.1058C>T (p.Thr353Ile)
|
rs183197573
|
0.00031
|
NM_006343.3(MERTK):c.986A>G (p.Asn329Ser)
|
rs34943572
|
0.00031
|
NM_014336.5(AIPL1):c.*434C>T
|
rs905874402
|
0.00031
|
NM_016247.4(IMPG2):c.*565A>T
|
rs995361821
|
0.00031
|
NM_177965.4(CFAP418):c.*2617G>T
|
rs141942063
|
0.00031
|
NM_001297.5(CNGB1):c.412+8C>A
|
rs185727761
|
0.00030
|
NM_004698.4(PRPF3):c.780G>A (p.Glu260=)
|
rs80201355
|
0.00030
|
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)
|
rs139119218
|
0.00030
|
NM_000283.4(PDE6B):c.2504-1G>C
|
rs201870319
|
0.00029
|
NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser)
|
rs149380104
|
0.00029
|
NM_000541.5(SAG):c.1054G>A (p.Ala352Thr)
|
rs201307508
|
0.00029
|
NM_000717.5(CA4):c.681G>A (p.Pro227=)
|
rs144467811
|
0.00029
|
NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg)
|
rs369966951
|
0.00029
|
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=)
|
rs747911999
|
0.00029
|
NM_001142800.2(EYS):c.5988C>T (p.Cys1996=)
|
rs370988507
|
0.00029
|
NM_003322.6(TULP1):c.249G>A (p.Ala83=)
|
rs377105125
|
0.00029
|
NM_004183.4(BEST1):c.1143C>T (p.Asp381=)
|
rs112199774
|
0.00029
|
NM_016247.4(IMPG2):c.*371G>A
|
rs191595733
|
0.00029
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_152443.3(RDH12):c.*434A>T
|
rs886050645
|
0.00029
|
NM_152443.3(RDH12):c.*557C>T
|
rs553955355
|
0.00029
|
NM_205861.3(DHDDS):c.*2104A>T
|
rs182595109
|
0.00029
|
NM_206933.4(USH2A):c.2167+11C>T
|
rs139647897
|
0.00029
|
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)
|
rs146372677
|
0.00029
|
NM_000327.4(ROM1):c.793G>A (p.Ala265Thr)
|
rs200272942
|
0.00028
|
NM_001029883.3(PCARE):c.403G>A (p.Glu135Lys)
|
rs200227182
|
0.00028
|
NM_001031710.3(KLHL7):c.*24T>C
|
rs373590982
|
0.00028
|
NM_006269.2(RP1):c.5673G>T (p.Leu1891Phe)
|
rs139088785
|
0.00028
|
NM_014748.4(SNX17):c.*692T>C
|
rs754539683
|
0.00028
|
NM_001278293.3(ARL6):c.-207G>A
|
rs189005414
|
0.00027
|
NM_001278293.3(ARL6):c.-71C>G
|
rs777066573
|
0.00027
|
NM_004744.5(LRAT):c.*561A>G
|
rs1046022135
|
0.00027
|
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=)
|
rs147958141
|
0.00027
|
NM_006445.4(PRPF8):c.5841C>T (p.Asn1947=)
|
rs142499204
|
0.00027
|
NM_000440.3(PDE6A):c.497T>C (p.Val166Ala)
|
rs199887926
|
0.00026
|
NM_000717.5(CA4):c.744+3G>A
|
rs373253742
|
0.00026
|
NM_001031710.3(KLHL7):c.*762G>A
|
rs531449074
|
0.00026
|
NM_001031710.3(KLHL7):c.*865C>T
|
rs193202664
|
0.00026
|
NM_001142800.2(EYS):c.7724-12C>T
|
rs144282503
|
0.00026
|
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=)
|
rs139944387
|
0.00026
|
NM_001242957.3(MAK):c.1144-10T>C
|
rs202001756
|
0.00026
|
NM_001297.5(CNGB1):c.1854C>T (p.Ala618=)
|
rs572930933
|
0.00026
|
NM_002900.3(RBP3):c.1179A>G (p.Thr393=)
|
rs148615170
|
0.00026
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)
|
rs202041422
|
0.00026
|
NM_006899.5(IDH3B):c.624G>C (p.Lys208Asn)
|
rs148250924
|
0.00026
|
NM_006899.5(IDH3B):c.916-10C>T
|
rs202127751
|
0.00026
|
NM_014014.5(SNRNP200):c.-95G>A
|
rs780044707
|
0.00026
|
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=)
|
rs375734152
|
0.00026
|
NM_144596.4(TTC8):c.669G>A (p.Lys223=)
|
rs141304350
|
0.00026
|
NM_000717.5(CA4):c.58+10C>G
|
rs756230727
|
0.00025
|
NM_000883.4(IMPDH1):c.*642G>A
|
rs574318258
|
0.00025
|
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)
|
rs150628823
|
0.00025
|
NM_006445.4(PRPF8):c.4022+15A>G
|
rs370376159
|
0.00025
|
NM_015629.4(PRPF31):c.239-12G>A
|
rs377086372
|
0.00025
|
NM_016247.4(IMPG2):c.2933C>T (p.Ala978Val)
|
rs371611480
|
0.00025
|
NM_016247.4(IMPG2):c.3561C>T (p.Ser1187=)
|
rs139496326
|
0.00025
|
NM_201253.3(CRB1):c.1428C>T (p.Thr476=)
|
rs62636282
|
0.00025
|
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)
|
rs150412614
|
0.00025
|
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
|
rs200981928
|
0.00025
|
NM_000283.4(PDE6B):c.*545T>C
|
rs149186081
|
0.00024
|
NM_000322.5(PRPH2):c.75G>C (p.Trp25Cys)
|
rs146686238
|
0.00024
|
NM_000327.4(ROM1):c.986C>T (p.Ala329Val)
|
rs139971812
|
0.00024
|
NM_000883.4(IMPDH1):c.*231C>G
|
rs1042267
|
0.00024
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00024
|
NM_001354768.3(NRL):c.*864G>A
|
rs906154950
|
0.00024
|
NM_004744.5(LRAT):c.*1418C>G
|
rs148321604
|
0.00024
|
NM_004744.5(LRAT):c.*517G>A
|
rs535367516
|
0.00024
|
NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn)
|
rs200389505
|
0.00024
|
NM_006899.5(IDH3B):c.337+11C>T
|
rs117928032
|
0.00024
|
NM_014014.5(SNRNP200):c.578A>G (p.Asp193Gly)
|
rs144423660
|
0.00024
|
NM_016247.4(IMPG2):c.*4374A>G
|
rs576192752
|
0.00024
|
NM_020184.4(CNNM4):c.2130+5G>A
|
rs200517269
|
0.00024
|
NM_144596.4(TTC8):c.*92C>T
|
rs148799039
|
0.00024
|
NM_144631.6(ZNF513):c.1568G>A (p.Arg523Gln)
|
rs371030335
|
0.00024
|
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)
|
rs141852437
|
0.00024
|
NM_000283.4(PDE6B):c.*271G>A
|
rs552530901
|
0.00023
|
NM_000440.3(PDE6A):c.282G>A (p.Met94Ile)
|
rs150808864
|
0.00023
|
NM_001029883.3(PCARE):c.*474T>C
|
rs757874160
|
0.00023
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
NM_001297.5(CNGB1):c.3366G>A (p.Lys1122=)
|
rs751822516
|
0.00023
|
NM_006915.3(RP2):c.*1176G>A
|
rs781850779
|
0.00023
|
NM_014014.5(SNRNP200):c.2665A>G (p.Ile889Val)
|
rs140087655
|
0.00023
|
NM_022367.4(SEMA4A):c.*208A>G
|
rs143262805
|
0.00023
|
NM_000326.5(RLBP1):c.796-6C>T
|
rs201866933
|
0.00022
|
NM_000554.6(CRX):c.-46C>T
|
rs755040084
|
0.00022
|
NM_001012720.2(RGR):c.*200C>T
|
rs764175932
|
0.00022
|
NM_001077620.3(PRCD):c.*1347C>T
|
rs780340686
|
0.00022
|
NM_001201543.2(FAM161A):c.*1551A>C
|
rs181814580
|
0.00022
|
NM_001297.5(CNGB1):c.*1544T>C
|
rs551005635
|
0.00022
|
NM_001297.5(CNGB1):c.838-4G>T
|
rs375539469
|
0.00022
|
NM_004183.4(BEST1):c.495G>A (p.Pro165=)
|
rs182941675
|
0.00022
|
NM_004744.5(LRAT):c.*3978C>T
|
rs886059180
|
0.00022
|
NM_006017.3(PROM1):c.2271C>T (p.Ile757=)
|
rs375986111
|
0.00022
|
NM_012469.4(PRPF6):c.1525-7C>T
|
rs200467198
|
0.00022
|
NM_014014.5(SNRNP200):c.46-7T>C
|
rs373701482
|
0.00022
|
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr)
|
rs150364664
|
0.00022
|
NM_000717.5(CA4):c.575A>G (p.Lys192Arg)
|
rs147624521
|
0.00021
|
NM_000883.4(IMPDH1):c.-73G>C
|
rs906905615
|
0.00021
|
NM_001029883.3(PCARE):c.*400G>A
|
rs185127491
|
0.00021
|
NM_001029883.3(PCARE):c.*903A>G
|
rs146133810
|
0.00021
|
NM_001029883.3(PCARE):c.*997G>A
|
rs148591627
|
0.00021
|
NM_001029883.3(PCARE):c.1648G>A (p.Glu550Lys)
|
rs200809211
|
0.00021
|
NM_001031710.3(KLHL7):c.*325G>A
|
rs567516489
|
0.00021
|
NM_001142800.2(EYS):c.1056+11A>G
|
rs201004766
|
0.00021
|
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met)
|
rs199944222
|
0.00021
|
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile)
|
rs561830314
|
0.00021
|
NM_001142800.2(EYS):c.7723+9T>C
|
rs766087392
|
0.00021
|
NM_002900.3(RBP3):c.1514A>T (p.His505Leu)
|
rs201808774
|
0.00021
|
NM_003322.6(TULP1):c.603G>A (p.Gly201=)
|
rs117920214
|
0.00021
|
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)
|
rs201701647
|
0.00021
|
NM_006269.2(RP1):c.6055G>A (p.Gly2019Ser)
|
rs137853908
|
0.00021
|
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)
|
rs138585919
|
0.00021
|
NM_014748.4(SNX17):c.*652C>T
|
rs558608689
|
0.00021
|
NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile)
|
rs202230167
|
0.00021
|
NM_018418.5(SPATA7):c.387G>A (p.Pro129=)
|
rs199727517
|
0.00021
|
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)
|
rs376411291
|
0.00021
|
NM_000322.5(PRPH2):c.*661G>A
|
rs753202254
|
0.00020
|
NM_000440.3(PDE6A):c.853C>A (p.Gln285Lys)
|
rs201406216
|
0.00020
|
NM_000539.3(RHO):c.630C>T (p.Val210=)
|
rs371192803
|
0.00020
|
NM_000554.6(CRX):c.549G>A (p.Gly183=)
|
rs61748451
|
0.00020
|
NM_001029883.3(PCARE):c.177G>C (p.Glu59Asp)
|
rs151202941
|
0.00020
|
NM_001379270.1(CNGA1):c.*62A>T
|
rs553735132
|
0.00020
|
NM_002900.3(RBP3):c.1083G>C (p.Thr361=)
|
rs146487673
|
0.00020
|
NM_005802.5(TOPORS):c.*117A>G
|
rs752719297
|
0.00020
|
NM_006017.3(PROM1):c.678G>A (p.Ala226=)
|
rs187116049
|
0.00020
|
NM_006343.3(MERTK):c.*111G>A
|
rs367613631
|
0.00020
|
NM_201548.5(CERKL):c.900T>C (p.His300=)
|
rs183252158
|
0.00020
|
NM_000283.4(PDE6B):c.1805G>A (p.Arg602His)
|
rs752846577
|
0.00019
|
NM_000322.5(PRPH2):c.*1299C>T
|
rs535380944
|
0.00019
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
NM_000326.5(RLBP1):c.647G>A (p.Arg216Gln)
|
rs200488706
|
0.00019
|
NM_000329.3(RPE65):c.*886T>C
|
rs111811751
|
0.00019
|
NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val)
|
rs147047715
|
0.00019
|
NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr)
|
rs200696413
|
0.00019
|
NM_000541.5(SAG):c.1167T>A (p.Asp389Glu)
|
rs199798289
|
0.00019
|
NM_000717.5(CA4):c.258C>T (p.Asn86=)
|
rs185476073
|
0.00019
|
NM_000883.4(IMPDH1):c.1653C>T (p.His551=)
|
rs147882304
|
0.00019
|
NM_001012720.2(RGR):c.385G>A (p.Val129Ile)
|
rs138630905
|
0.00019
|
NM_001029883.3(PCARE):c.3705G>A (p.Pro1235=)
|
rs191767954
|
0.00019
|
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)
|
rs398123574
|
0.00019
|
NM_001142800.2(EYS):c.2822G>T (p.Gly941Val)
|
rs749101387
|
0.00019
|
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser)
|
rs557892188
|
0.00019
|
NM_001201543.2(FAM161A):c.*802A>G
|
rs541819550
|
0.00019
|
NM_001370348.2(PHF3):c.*6374T>C
|
rs1017192510
|
0.00019
|
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn)
|
rs149642039
|
0.00019
|
NM_002900.3(RBP3):c.2626G>T (p.Ala876Ser)
|
rs138240045
|
0.00019
|
NM_004698.4(PRPF3):c.501A>G (p.Thr167=)
|
rs146995242
|
0.00019
|
NM_005802.5(TOPORS):c.2347G>C (p.Gly783Arg)
|
rs148620735
|
0.00019
|
NM_006017.3(PROM1):c.843C>T (p.His281=)
|
rs374394451
|
0.00019
|
NM_014014.5(SNRNP200):c.2122G>A (p.Val708Ile)
|
rs191245006
|
0.00019
|
NM_015629.4(PRPF31):c.697+10C>T
|
rs369722854
|
0.00019
|
NM_016247.4(IMPG2):c.*1162T>C
|
rs560772211
|
0.00019
|
NM_016247.4(IMPG2):c.*3467G>A
|
rs1039410358
|
0.00019
|
NM_144631.6(ZNF513):c.-24C>A
|
rs780603445
|
0.00019
|
NM_152443.3(RDH12):c.195A>C (p.Arg65=)
|
rs771614823
|
0.00019
|
NM_177965.4(CFAP418):c.*1474G>A
|
rs147952646
|
0.00019
|
NM_201548.5(CERKL):c.1237G>T (p.Val413Leu)
|
rs145489428
|
0.00019
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00019
|
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala)
|
rs141647790
|
0.00018
|
NM_000541.5(SAG):c.1132G>A (p.Val378Ile)
|
rs200602069
|
0.00018
|
NM_000554.6(CRX):c.*205G>A
|
rs995250251
|
0.00018
|
NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)
|
rs946898300
|
0.00018
|
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr)
|
rs202196567
|
0.00018
|
NM_001201543.2(FAM161A):c.717G>A (p.Pro239=)
|
rs377016856
|
0.00018
|
NM_001297.5(CNGB1):c.*1149G>A
|
rs886052187
|
0.00018
|
NM_001297.5(CNGB1):c.*820G>A
|
rs184852651
|
0.00018
|
NM_001297.5(CNGB1):c.139G>A (p.Glu47Lys)
|
rs78149232
|
0.00018
|
NM_004744.5(LRAT):c.*2854A>G
|
rs745679958
|
0.00018
|
NM_012469.4(PRPF6):c.438+15C>T
|
rs371384048
|
0.00018
|
NM_014014.5(SNRNP200):c.4678A>G (p.Ile1560Val)
|
rs78715863
|
0.00018
|
NM_016247.4(IMPG2):c.*3740C>T
|
rs532966833
|
0.00018
|
NM_000322.5(PRPH2):c.-166G>A
|
rs886061407
|
0.00017
|
NM_000322.5(PRPH2):c.252C>T (p.Asp84=)
|
rs139936445
|
0.00017
|
NM_000440.3(PDE6A):c.196C>T (p.Arg66Trp)
|
rs149945348
|
0.00017
|
NM_000554.6(CRX):c.*1759G>T
|
rs886054558
|
0.00017
|
NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp)
|
rs375914533
|
0.00017
|
NM_001029883.3(PCARE):c.*1844C>G
|
rs146988491
|
0.00017
|
NM_001297.5(CNGB1):c.1803C>A (p.Ser601=)
|
rs201290058
|
0.00017
|
NM_005802.5(TOPORS):c.*300A>G
|
rs911094732
|
0.00017
|
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=)
|
rs143560726
|
0.00017
|
NM_006269.2(RP1):c.2386G>A (p.Gly796Ser)
|
rs202031905
|
0.00017
|
NM_006445.4(PRPF8):c.-68C>T
|
rs761491187
|
0.00017
|
NM_014014.5(SNRNP200):c.4029C>T (p.Asp1343=)
|
rs145242546
|
0.00017
|
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser)
|
rs139079107
|
0.00017
|
NM_014748.4(SNX17):c.*811G>A
|
rs377145066
|
0.00017
|
NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg)
|
rs201905772
|
0.00017
|
NM_018418.5(SPATA7):c.1717A>G (p.Lys573Glu)
|
rs148392950
|
0.00017
|
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser)
|
rs140494140
|
0.00017
|
NM_206933.4(USH2A):c.4627+161T>C
|
rs771693146
|
0.00017
|
NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys)
|
rs143908642
|
0.00016
|
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met)
|
rs149359860
|
0.00016
|
NM_000440.3(PDE6A):c.*704G>A
|
rs777001495
|
0.00016
|
NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys)
|
rs148637474
|
0.00016
|
NM_000440.3(PDE6A):c.879G>A (p.Pro293=)
|
rs137853899
|
0.00016
|
NM_000554.6(CRX):c.*2404C>T
|
rs544403161
|
0.00016
|
NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln)
|
rs145014241
|
0.00016
|
NM_001031710.3(KLHL7):c.*795G>A
|
rs534737488
|
0.00016
|
NM_001201543.2(FAM161A):c.*1144T>G
|
rs532671656
|
0.00016
|
NM_001370348.2(PHF3):c.*6334T>C
|
rs780180886
|
0.00016
|
NM_003322.6(TULP1):c.771G>A (p.Thr257=)
|
rs189081258
|
0.00016
|
NM_004744.5(LRAT):c.-2+7A>C
|
rs886059161
|
0.00016
|
NM_006017.3(PROM1):c.1279T>C (p.Leu427=)
|
rs200710798
|
0.00016
|
NM_006269.2(RP1):c.3101A>T (p.His1034Leu)
|
rs148296108
|
0.00016
|
NM_006269.2(RP1):c.5805T>G (p.Phe1935Leu)
|
rs140137224
|
0.00016
|
NM_006343.3(MERTK):c.*11G>A
|
rs375195445
|
0.00016
|
NM_006445.4(PRPF8):c.5538C>T (p.Ala1846=)
|
rs372925838
|
0.00016
|
NM_006445.4(PRPF8):c.6657G>A (p.Thr2219=)
|
rs200741294
|
0.00016
|
NM_006899.5(IDH3B):c.*177A>G
|
rs367573436
|
0.00016
|
NM_012469.4(PRPF6):c.1164A>G (p.Ala388=)
|
rs201984924
|
0.00016
|
NM_014014.5(SNRNP200):c.390T>C (p.Asp130=)
|
rs138291954
|
0.00016
|
NM_014014.5(SNRNP200):c.5409C>T (p.Ser1803=)
|
rs139137932
|
0.00016
|
NM_015629.4(PRPF31):c.429C>T (p.Gly143=)
|
rs142604510
|
0.00016
|
NM_016247.4(IMPG2):c.*3152T>C
|
rs921907957
|
0.00016
|
NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr)
|
rs149652495
|
0.00016
|
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val)
|
rs199649536
|
0.00016
|
NM_144631.6(ZNF513):c.950G>A (p.Arg317Gln)
|
rs201047611
|
0.00016
|
NM_201253.3(CRB1):c.*116A>G
|
rs575882211
|
0.00016
|
NM_203288.2(RP9):c.509A>G (p.Asp170Gly)
|
rs104894039
|
0.00016
|
NM_205861.3(DHDDS):c.*464T>C
|
rs567665048
|
0.00016
|
NM_206933.4(USH2A):c.4627+596A>G
|
rs1036513961
|
0.00016
|
NM_206933.4(USH2A):c.4627+851A>G
|
rs779885066
|
0.00016
|
NM_000283.4(PDE6B):c.1920+4G>A
|
rs370313003
|
0.00015
|
NM_000440.3(PDE6A):c.2252C>T (p.Thr751Met)
|
rs143080578
|
0.00015
|
NM_000554.6(CRX):c.*907C>T
|
rs559582292
|
0.00015
|
NM_001029883.3(PCARE):c.*1666C>T
|
rs527244201
|
0.00015
|
NM_001029883.3(PCARE):c.3529C>T (p.Arg1177Trp)
|
rs201354788
|
0.00015
|
NM_001077620.3(PRCD):c.-82T>C
|
rs1011242073
|
0.00015
|
NM_001142800.2(EYS):c.453T>A (p.Val151=)
|
rs373183802
|
0.00015
|
NM_001297.5(CNGB1):c.1028T>C (p.Met343Thr)
|
rs202174131
|
0.00015
|
NM_002098.6(GUCA1B):c.-35C>T
|
rs561790374
|
0.00015
|
NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile)
|
rs147796755
|
0.00015
|
NM_004183.4(BEST1):c.*45T>C
|
rs201586629
|
0.00015
|
NM_006269.2(RP1):c.*269A>G
|
rs1276671291
|
0.00015
|
NM_006445.4(PRPF8):c.5794-11T>C
|
rs187602609
|
0.00015
|
NM_016247.4(IMPG2):c.2803-14T>G
|
rs376452358
|
0.00015
|
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe)
|
rs376443291
|
0.00015
|
NM_144631.6(ZNF513):c.-8C>G
|
rs142187881
|
0.00015
|
NM_177965.4(CFAP418):c.155+8G>A
|
rs377262548
|
0.00015
|
NM_000326.5(RLBP1):c.228G>A (p.Ser76=)
|
rs202116993
|
0.00014
|
NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys)
|
rs199748187
|
0.00014
|
NM_000541.5(SAG):c.453T>G (p.Phe151Leu)
|
rs770558895
|
0.00014
|
NM_000554.6(CRX):c.*746T>C
|
rs886054552
|
0.00014
|
NM_001077620.3(PRCD):c.*881G>A
|
rs757028440
|
0.00014
|
NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile)
|
rs377666612
|
0.00014
|
NM_001201543.2(FAM161A):c.1391A>G (p.His464Arg)
|
rs201315315
|
0.00014
|
NM_001201543.2(FAM161A):c.2065G>T (p.Asp689Tyr)
|
rs191862300
|
0.00014
|
NM_001297.5(CNGB1):c.1179C>T (p.Asp393=)
|
rs377042647
|
0.00014
|
NM_001297.5(CNGB1):c.1435C>A (p.Leu479Ile)
|
rs2303783
|
0.00014
|
NM_001354768.3(NRL):c.*778C>T
|
rs762694845
|
0.00014
|
NM_002900.3(RBP3):c.1207G>A (p.Ala403Thr)
|
rs143857049
|
0.00014
|
NM_002900.3(RBP3):c.2899G>A (p.Gly967Ser)
|
rs201500631
|
0.00014
|
NM_005802.5(TOPORS):c.*371T>C
|
rs970207555
|
0.00014
|
NM_006269.2(RP1):c.5257T>C (p.Leu1753=)
|
rs199808222
|
0.00014
|
NM_006899.5(IDH3B):c.900C>T (p.Tyr300=)
|
rs201237064
|
0.00014
|
NM_014336.5(AIPL1):c.*1534G>A
|
rs780946014
|
0.00014
|
NM_014748.4(SNX17):c.*772G>A
|
rs149692692
|
0.00014
|
NM_018418.5(SPATA7):c.245A>G (p.Asp82Gly)
|
rs376502749
|
0.00014
|
NM_022367.4(SEMA4A):c.-64A>G
|
rs753268297
|
0.00014
|
NM_022367.4(SEMA4A):c.90C>T (p.Thr30=)
|
rs373565051
|
0.00014
|
NM_144631.6(ZNF513):c.984T>A (p.Gly328=)
|
rs369469017
|
0.00014
|
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile)
|
rs769317754
|
0.00014
|
NM_177965.4(CFAP418):c.*1115G>C
|
rs763366360
|
0.00014
|
NM_201253.3(CRB1):c.1192G>A (p.Val398Ile)
|
rs144011428
|
0.00014
|
NM_201548.5(CERKL):c.1556T>C (p.Ile519Thr)
|
rs141723283
|
0.00014
|
NM_205861.3(DHDDS):c.990T>C (p.Thr330=)
|
rs773902080
|
0.00014
|
NM_206933.4(USH2A):c.1608C>T (p.Cys536=)
|
rs187380128
|
0.00014
|
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
|
rs373190681
|
0.00014
|
NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn)
|
rs138423108
|
0.00013
|
NM_000440.3(PDE6A):c.594G>A (p.Val198=)
|
rs398123394
|
0.00013
|
NM_000539.3(RHO):c.*1255T>C
|
rs774496991
|
0.00013
|
NM_000554.6(CRX):c.*6G>A
|
rs375770558
|
0.00013
|
NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg)
|
rs182812191
|
0.00013
|
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)
|
rs183589498
|
0.00013
|
NM_001201543.2(FAM161A):c.*757G>A
|
rs560037933
|
0.00013
|
NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg)
|
rs201088869
|
0.00013
|
NM_001379270.1(CNGA1):c.179G>T (p.Gly60Val)
|
rs201031527
|
0.00013
|
NM_002098.6(GUCA1B):c.150C>T (p.Asp50=)
|
rs142428974
|
0.00013
|
NM_002900.3(RBP3):c.1806C>T (p.His602=)
|
rs782049247
|
0.00013
|
NM_002900.3(RBP3):c.3156C>T (p.Asp1052=)
|
rs756128531
|
0.00013
|
NM_002900.3(RBP3):c.579C>T (p.Ile193=)
|
rs140931492
|
0.00013
|
NM_003322.6(TULP1):c.1152C>T (p.Asn384=)
|
rs371436525
|
0.00013
|
NM_003322.6(TULP1):c.541G>C (p.Val181Leu)
|
rs576738703
|
0.00013
|
NM_004183.4(BEST1):c.1063C>T (p.Arg355Cys)
|
rs139637557
|
0.00013
|
NM_006269.2(RP1):c.2005G>A (p.Ala669Thr)
|
rs201725231
|
0.00013
|
NM_006269.2(RP1):c.4299A>G (p.Ala1433=)
|
rs148918111
|
0.00013
|
NM_012469.4(PRPF6):c.1566C>T (p.Cys522=)
|
rs367582115
|
0.00013
|
NM_012469.4(PRPF6):c.1944C>T (p.Ala648=)
|
rs151332876
|
0.00013
|
NM_012469.4(PRPF6):c.2779G>A (p.Gly927Arg)
|
rs145731410
|
0.00013
|
NM_014748.4(SNX17):c.*601C>T
|
rs575633762
|
0.00013
|
NM_014748.4(SNX17):c.*766G>A
|
rs753288919
|
0.00013
|
NM_015629.4(PRPF31):c.*197G>C
|
rs886054620
|
0.00013
|
NM_016247.4(IMPG2):c.*3235C>A
|
rs886057669
|
0.00013
|
NM_016247.4(IMPG2):c.57G>C (p.Leu19=)
|
rs188916371
|
0.00013
|
NM_018418.5(SPATA7):c.-112A>C
|
rs550675797
|
0.00013
|
NM_177965.4(CFAP418):c.*1675G>T
|
rs886063192
|
0.00013
|
NM_177965.4(CFAP418):c.*383C>T
|
rs189171642
|
0.00013
|
NM_201548.5(CERKL):c.*114A>G
|
rs766876969
|
0.00013
|
NM_203288.2(RP9):c.632C>G (p.Ser211Cys)
|
rs201702563
|
0.00013
|
NM_205861.3(DHDDS):c.*737C>A
|
rs573311409
|
0.00013
|
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val)
|
rs201808654
|
0.00013
|
NM_000326.5(RLBP1):c.*403T>C
|
rs766420046
|
0.00012
|
NM_000329.3(RPE65):c.441A>G (p.Thr147=)
|
rs185049543
|
0.00012
|
NM_000440.3(PDE6A):c.*2616G>A
|
rs777837397
|
0.00012
|
NM_000554.6(CRX):c.*2402G>T
|
rs901623400
|
0.00012
|
NM_000554.6(CRX):c.765C>T (p.Gly255=)
|
rs145913500
|
0.00012
|
NM_001031710.3(KLHL7):c.738G>A (p.Thr246=)
|
rs148401327
|
0.00012
|
NM_001077620.3(PRCD):c.*687G>A
|
rs550804575
|
0.00012
|
NM_001077620.3(PRCD):c.13C>G (p.Leu5Val)
|
rs200954045
|
0.00012
|
NM_001297.5(CNGB1):c.3379G>A (p.Gly1127Ser)
|
rs373477921
|
0.00012
|
NM_001354768.3(NRL):c.227C>T (p.Ala76Val)
|
rs149921817
|
0.00012
|
NM_002900.3(RBP3):c.3613T>A (p.Ser1205Thr)
|
rs146153708
|
0.00012
|
NM_004744.5(LRAT):c.*1390G>A
|
rs769920153
|
0.00012
|
NM_006343.3(MERTK):c.2069C>T (p.Thr690Ile)
|
rs139822416
|
0.00012
|
NM_006899.5(IDH3B):c.73G>A (p.Gly25Ser)
|
rs112208578
|
0.00012
|
NM_012469.4(PRPF6):c.2607G>A (p.Lys869=)
|
rs201168471
|
0.00012
|
NM_016247.4(IMPG2):c.*2781C>T
|
rs148335318
|
0.00012
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
NM_144631.6(ZNF513):c.-48G>C
|
rs563171952
|
0.00012
|
NM_152443.3(RDH12):c.300C>T (p.Ser100=)
|
rs746513362
|
0.00012
|
NM_201548.5(CERKL):c.1500T>C (p.Asp500=)
|
rs141656965
|
0.00012
|
NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro)
|
rs199521106
|
0.00011
|
NM_000326.5(RLBP1):c.-233G>A
|
rs886051504
|
0.00011
|
NM_000329.3(RPE65):c.1194C>T (p.Asp398=)
|
rs139640666
|
0.00011
|
NM_000440.3(PDE6A):c.1728+13C>T
|
rs144868706
|
0.00011
|
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)
|
rs199738915
|
0.00011
|
NM_001029883.3(PCARE):c.*1686C>A
|
rs770762342
|
0.00011
|
NM_001029883.3(PCARE):c.*3036C>T
|
rs541824167
|
0.00011
|
NM_001029883.3(PCARE):c.2951G>A (p.Arg984Gln)
|
rs367888126
|
0.00011
|
NM_001029883.3(PCARE):c.645G>A (p.Leu215=)
|
rs374663422
|
0.00011
|
NM_001029883.3(PCARE):c.958C>T (p.Arg320Cys)
|
rs374283240
|
0.00011
|
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr)
|
rs138255012
|
0.00011
|
NM_001142800.2(EYS):c.5053T>G (p.Ser1685Ala)
|
rs759642068
|
0.00011
|
NM_001142800.2(EYS):c.6188G>T (p.Cys2063Phe)
|
rs138123230
|
0.00011
|
NM_001201543.2(FAM161A):c.*755G>A
|
rs933044250
|
0.00011
|
NM_001297.5(CNGB1):c.*1148C>T
|
rs996430580
|
0.00011
|
NM_001297.5(CNGB1):c.-68G>A
|
rs892657374
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_004698.4(PRPF3):c.1851G>A (p.Glu617=)
|
rs782390597
|
0.00011
|
NM_004744.5(LRAT):c.*2322C>T
|
rs1046783706
|
0.00011
|
NM_004744.5(LRAT):c.*3163C>T
|
rs768550356
|
0.00011
|
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)
|
rs369512467
|
0.00011
|
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)
|
rs369815021
|
0.00011
|
NM_014014.5(SNRNP200):c.4056G>A (p.Thr1352=)
|
rs758645617
|
0.00011
|
NM_014014.5(SNRNP200):c.423T>C (p.Ala141=)
|
rs140702204
|
0.00011
|
NM_015629.4(PRPF31):c.510C>T (p.Thr170=)
|
rs145699524
|
0.00011
|
NM_016247.4(IMPG2):c.*134C>T
|
rs376291735
|
0.00011
|
NM_016247.4(IMPG2):c.-44A>G
|
rs781694232
|
0.00011
|
NM_018418.5(SPATA7):c.207G>A (p.Ser69=)
|
rs142913613
|
0.00011
|
NM_177965.4(CFAP418):c.*2549C>A
|
rs745781812
|
0.00011
|
NM_201548.5(CERKL):c.540A>G (p.Lys180=)
|
rs149505471
|
0.00011
|
NM_205861.3(DHDDS):c.*1497C>T
|
rs766309543
|
0.00011
|
NM_000283.4(PDE6B):c.*309T>A
|
rs559243245
|
0.00010
|
NM_000283.4(PDE6B):c.*504A>G
|
rs886059550
|
0.00010
|
NM_000283.4(PDE6B):c.2352+14G>A
|
rs752968664
|
0.00010
|
NM_000322.5(PRPH2):c.*1079G>A
|
rs572613522
|
0.00010
|
NM_000329.3(RPE65):c.859-11C>T
|
rs369772824
|
0.00010
|
NM_000440.3(PDE6A):c.*1762A>G
|
rs868404248
|
0.00010
|
NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn)
|
rs374847529
|
0.00010
|
NM_000440.3(PDE6A):c.2037G>A (p.Thr679=)
|
rs140267699
|
0.00010
|
NM_000440.3(PDE6A):c.2526G>A (p.Pro842=)
|
rs376909494
|
0.00010
|
NM_000539.3(RHO):c.361+10G>A
|
rs372128112
|
0.00010
|
NM_000539.3(RHO):c.744G>A (p.Lys248=)
|
rs141185480
|
0.00010
|
NM_000554.6(CRX):c.*809C>G
|
rs574128797
|
0.00010
|
NM_000883.4(IMPDH1):c.675T>C (p.Ser225=)
|
rs373353058
|
0.00010
|
NM_001012720.2(RGR):c.666C>T (p.Leu222=)
|
rs575867273
|
0.00010
|
NM_001029883.3(PCARE):c.*1865G>A
|
rs886055913
|
0.00010
|
NM_001029883.3(PCARE):c.*204G>T
|
rs968642049
|
0.00010
|
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser)
|
rs201980758
|
0.00010
|
NM_001029883.3(PCARE):c.3194C>G (p.Pro1065Arg)
|
rs201528802
|
0.00010
|
NM_001077620.3(PRCD):c.*260C>T
|
rs773379904
|
0.00010
|
NM_001142800.2(EYS):c.-68C>T
|
rs530118054
|
0.00010
|
NM_001142800.2(EYS):c.2260-7C>T
|
rs532797776
|
0.00010
|
NM_001201543.2(FAM161A):c.*1223A>G
|
rs886056215
|
0.00010
|
NM_001201543.2(FAM161A):c.1085G>T (p.Arg362Leu)
|
rs200813667
|
0.00010
|
NM_002098.6(GUCA1B):c.*502C>T
|
rs886061394
|
0.00010
|
NM_002098.6(GUCA1B):c.*688G>A
|
rs1328775376
|
0.00010
|
NM_002900.3(RBP3):c.*65C>T
|
rs183587343
|
0.00010
|
NM_004744.5(LRAT):c.*1281C>A
|
rs572110901
|
0.00010
|
NM_004744.5(LRAT):c.*549T>C
|
rs886059165
|
0.00010
|
NM_005802.5(TOPORS):c.*100C>G
|
rs886063852
|
0.00010
|
NM_006017.3(PROM1):c.-127A>G
|
rs886059206
|
0.00010
|
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)
|
rs146434364
|
0.00010
|
NM_006269.2(RP1):c.2016G>T (p.Lys672Asn)
|
rs200252967
|
0.00010
|
NM_006445.4(PRPF8):c.5022C>T (p.His1674=)
|
rs185936129
|
0.00010
|
NM_006899.5(IDH3B):c.1010+8A>G
|
rs200242149
|
0.00010
|
NM_012469.4(PRPF6):c.-82C>T
|
rs534743637
|
0.00010
|
NM_012469.4(PRPF6):c.2349C>T (p.Ser783=)
|
rs138601260
|
0.00010
|
NM_012469.4(PRPF6):c.61C>T (p.Leu21=)
|
rs775751428
|
0.00010
|
NM_014014.5(SNRNP200):c.87C>T (p.Asp29=)
|
rs140629902
|
0.00010
|
NM_014336.5(AIPL1):c.*23C>G
|
rs369568105
|
0.00010
|
NM_016247.4(IMPG2):c.*1578C>T
|
rs886057674
|
0.00010
|
NM_016247.4(IMPG2):c.1243A>G (p.Asn415Asp)
|
rs138834349
|
0.00010
|
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val)
|
rs375371982
|
0.00010
|
NM_018418.5(SPATA7):c.1606A>G (p.Thr536Ala)
|
rs200231959
|
0.00010
|
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr)
|
rs540856754
|
0.00010
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)
|
rs727503735
|
0.00010
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
NM_000283.4(PDE6B):c.2193+5G>A
|
rs576895229
|
0.00009
|
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn)
|
rs141563823
|
0.00009
|
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)
|
rs140224236
|
0.00009
|
NM_000322.5(PRPH2):c.*350C>T
|
rs769850707
|
0.00009
|
NM_000322.5(PRPH2):c.*743G>A
|
rs941727712
|
0.00009
|
NM_000326.5(RLBP1):c.*256G>A
|
rs1000064967
|
0.00009
|
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)
|
rs201379753
|
0.00009
|
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)
|
rs1429137932
|
0.00009
|
NM_000329.3(RPE65):c.295G>A (p.Val99Ile)
|
rs143056561
|
0.00009
|
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)
|
rs201075875
|
0.00009
|
NM_000440.3(PDE6A):c.*1695G>A
|
rs867317358
|
0.00009
|
NM_000440.3(PDE6A):c.1745G>A (p.Arg582His)
|
rs77760924
|
0.00009
|
NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp)
|
rs142092713
|
0.00009
|
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)
|
rs199924410
|
0.00009
|
NM_000440.3(PDE6A):c.710G>A (p.Arg237His)
|
rs772815917
|
0.00009
|
NM_000440.3(PDE6A):c.830T>C (p.Val277Ala)
|
rs145608358
|
0.00009
|
NM_000541.5(SAG):c.866C>T (p.Ala289Val)
|
rs373460295
|
0.00009
|
NM_000554.6(CRX):c.*2040G>A
|
rs139340702
|
0.00009
|
NM_000717.5(CA4):c.753A>T (p.Ala251=)
|
rs140515828
|
0.00009
|
NM_001029883.3(PCARE):c.*1714G>A
|
rs1040232674
|
0.00009
|
NM_001029883.3(PCARE):c.2369A>C (p.Glu790Ala)
|
rs200963687
|
0.00009
|
NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys)
|
rs200817926
|
0.00009
|
NM_001031710.3(KLHL7):c.*471T>C
|
rs768616761
|
0.00009
|
NM_001142800.2(EYS):c.1747G>T (p.Asp583Tyr)
|
rs776055954
|
0.00009
|
NM_001201543.2(FAM161A):c.1044T>C (p.Tyr348=)
|
rs549784796
|
0.00009
|
NM_001201543.2(FAM161A):c.916C>T (p.Arg306Trp)
|
rs183615774
|
0.00009
|
NM_001297.5(CNGB1):c.*451G>C
|
rs191296025
|
0.00009
|
NM_001297.5(CNGB1):c.*980C>T
|
rs560274550
|
0.00009
|
NM_001297.5(CNGB1):c.2452C>A (p.Leu818Ile)
|
rs200323140
|
0.00009
|
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr)
|
rs368328328
|
0.00009
|
NM_001379270.1(CNGA1):c.672G>A (p.Leu224=)
|
rs149504668
|
0.00009
|
NM_002900.3(RBP3):c.2184C>T (p.Tyr728=)
|
rs34460089
|
0.00009
|
NM_002900.3(RBP3):c.2591G>A (p.Arg864Gln)
|
rs371184896
|
0.00009
|
NM_002900.3(RBP3):c.3707G>A (p.Arg1236Lys)
|
rs3740296
|
0.00009
|
NM_003322.6(TULP1):c.1169G>A (p.Arg390His)
|
rs139402633
|
0.00009
|
NM_003322.6(TULP1):c.184C>T (p.Pro62Ser)
|
rs781650198
|
0.00009
|
NM_004183.4(BEST1):c.*24C>T
|
rs142482048
|
0.00009
|
NM_004744.5(LRAT):c.*2458C>T
|
rs538201546
|
0.00009
|
NM_004744.5(LRAT):c.*632T>C
|
rs886059166
|
0.00009
|
NM_006017.3(PROM1):c.376G>A (p.Val126Met)
|
rs199556426
|
0.00009
|
NM_006269.2(RP1):c.3036G>C (p.Leu1012=)
|
rs373971446
|
0.00009
|
NM_006269.2(RP1):c.3040G>C (p.Asp1014His)
|
rs200186332
|
0.00009
|
NM_006269.2(RP1):c.6169C>G (p.Gln2057Glu)
|
rs201860457
|
0.00009
|
NM_006343.3(MERTK):c.-119C>T
|
rs1224407714
|
0.00009
|
NM_006445.4(PRPF8):c.1409+13A>G
|
rs763003164
|
0.00009
|
NM_006445.4(PRPF8):c.283A>G (p.Met95Val)
|
rs373157040
|
0.00009
|
NM_012469.4(PRPF6):c.1305+11C>T
|
rs190123178
|
0.00009
|
NM_012469.4(PRPF6):c.2425A>G (p.Asn809Asp)
|
rs373071691
|
0.00009
|
NM_014336.5(AIPL1):c.*749G>A
|
rs574921672
|
0.00009
|
NM_015629.4(PRPF31):c.855+14G>A
|
rs370512426
|
0.00009
|
NM_016247.4(IMPG2):c.*2653T>C
|
rs112670504
|
0.00009
|
NM_016247.4(IMPG2):c.*300T>G
|
rs111515750
|
0.00009
|
NM_018418.5(SPATA7):c.1425G>T (p.Leu475Phe)
|
rs181052380
|
0.00009
|
NM_018418.5(SPATA7):c.1622T>C (p.Ile541Thr)
|
rs139510848
|
0.00009
|
NM_022367.4(SEMA4A):c.*522A>T
|
rs761114677
|
0.00009
|
NM_177965.4(CFAP418):c.*336G>A
|
rs1026201093
|
0.00009
|
NM_201253.3(CRB1):c.*261A>G
|
rs747349828
|
0.00009
|
NM_201253.3(CRB1):c.*324C>A
|
rs190166697
|
0.00009
|
NM_201548.5(CERKL):c.895+13C>T
|
rs187829374
|
0.00009
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023
|
0.00009
|
NM_206933.4(USH2A):c.3177G>A (p.Pro1059=)
|
rs767648070
|
0.00009
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
NM_000260.4(MYO7A):c.3503+12G>A
|
rs78509218
|
0.00008
|
NM_000283.4(PDE6B):c.2269-11C>T
|
rs370169775
|
0.00008
|
NM_000322.5(PRPH2):c.*626A>G
|
rs1383185417
|
0.00008
|
NM_000327.4(ROM1):c.*255C>T
|
rs147684283
|
0.00008
|
NM_000327.4(ROM1):c.906G>A (p.Ala302=)
|
rs200213584
|
0.00008
|
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp)
|
rs187198628
|
0.00008
|
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys)
|
rs763317722
|
0.00008
|
NM_000539.3(RHO):c.399C>A (p.Ile133=)
|
rs372812523
|
0.00008
|
NM_000541.5(SAG):c.298G>A (p.Ala100Thr)
|
rs771117432
|
0.00008
|
NM_000554.6(CRX):c.*2343G>A
|
rs928747077
|
0.00008
|
NM_000883.4(IMPDH1):c.-77G>C
|
rs1002641912
|
0.00008
|
NM_001012720.2(RGR):c.-17A>G
|
rs377314145
|
0.00008
|
NM_001029883.3(PCARE):c.*1517G>A
|
rs886055914
|
0.00008
|
NM_001029883.3(PCARE):c.1432G>A (p.Ala478Thr)
|
rs201444022
|
0.00008
|
NM_001029883.3(PCARE):c.634C>T (p.Arg212Trp)
|
rs368688827
|
0.00008
|
NM_001142800.2(EYS):c.1107C>T (p.Ser369=)
|
rs755023434
|
0.00008
|
NM_001142800.2(EYS):c.1600-10G>A
|
rs111746102
|
0.00008
|
NM_001142800.2(EYS):c.4864G>A (p.Ala1622Thr)
|
rs533075374
|
0.00008
|
NM_001142800.2(EYS):c.6510C>T (p.Asn2170=)
|
rs756110037
|
0.00008
|
NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu)
|
rs79036642
|
0.00008
|
NM_001201543.2(FAM161A):c.*795G>A
|
rs866844878
|
0.00008
|
NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg)
|
rs201553871
|
0.00008
|
NM_001354768.3(NRL):c.407C>T (p.Ala136Val)
|
rs375075312
|
0.00008
|
NM_002900.3(RBP3):c.*180T>C
|
rs886047014
|
0.00008
|
NM_002900.3(RBP3):c.1384C>T (p.Arg462Cys)
|
rs551138498
|
0.00008
|
NM_002900.3(RBP3):c.1647G>A (p.Ala549=)
|
rs146715054
|
0.00008
|
NM_002900.3(RBP3):c.2063C>T (p.Ala688Val)
|
rs200168559
|
0.00008
|
NM_003322.6(TULP1):c.*305G>A
|
rs149035389
|
0.00008
|
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)
|
rs147409760
|
0.00008
|
NM_005802.5(TOPORS):c.360A>G (p.Leu120=)
|
rs147302494
|
0.00008
|
NM_006269.2(RP1):c.21T>G (p.Thr7=)
|
rs377126381
|
0.00008
|
NM_006899.5(IDH3B):c.*203T>C
|
rs546467756
|
0.00008
|
NM_012469.4(PRPF6):c.-53C>T
|
rs977850122
|
0.00008
|
NM_014014.5(SNRNP200):c.6093-6C>T
|
rs202243080
|
0.00008
|
NM_014249.4(NR2E3):c.844G>A (p.Glu282Lys)
|
rs370215891
|
0.00008
|
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys)
|
rs761622978
|
0.00008
|
NM_015629.4(PRPF31):c.1239C>T (p.Asn413=)
|
rs371720691
|
0.00008
|
NM_015629.4(PRPF31):c.594C>T (p.Asn198=)
|
rs138269127
|
0.00008
|
NM_016247.4(IMPG2):c.1728C>G (p.Val576=)
|
rs556074974
|
0.00008
|
NM_016247.4(IMPG2):c.3503C>G (p.Ala1168Gly)
|
rs201519517
|
0.00008
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
0.00008
|
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys)
|
rs370111364
|
0.00008
|
NM_144631.6(ZNF513):c.1601G>A (p.Arg534Gln)
|
rs149397849
|
0.00008
|
NM_205861.3(DHDDS):c.*1705G>A
|
rs1057515508
|
0.00008
|
NM_205861.3(DHDDS):c.*433T>C
|
rs180690900
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)
|
rs537863698
|
0.00008
|
NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala)
|
rs761281062
|
0.00007
|
NM_000329.3(RPE65):c.95-10T>A
|
rs547374432
|
0.00007
|
NM_000541.5(SAG):c.944+5G>A
|
rs374048703
|
0.00007
|
NM_001012720.2(RGR):c.745-13T>C
|
rs760426665
|
0.00007
|
NM_001031710.3(KLHL7):c.-215T>A
|
rs886062216
|
0.00007
|
NM_001031710.3(KLHL7):c.513G>A (p.Gln171=)
|
rs750816527
|
0.00007
|
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp)
|
rs201331309
|
0.00007
|
NM_001142800.2(EYS):c.5189G>A (p.Gly1730Glu)
|
rs927928681
|
0.00007
|
NM_001201543.2(FAM161A):c.*523G>A
|
rs897022105
|
0.00007
|
NM_001252024.2(TRPM1):c.1414C>T (p.Arg472Trp)
|
rs371853965
|
0.00007
|
NM_001297.5(CNGB1):c.2862C>T (p.Tyr954=)
|
rs763416913
|
0.00007
|
NM_001354768.3(NRL):c.*301A>T
|
rs1019002721
|
0.00007
|
NM_001379270.1(CNGA1):c.705A>G (p.Lys235=)
|
rs368137821
|
0.00007
|
NM_002900.3(RBP3):c.2503G>A (p.Gly835Ser)
|
rs782480179
|
0.00007
|
NM_004744.5(LRAT):c.*1120C>T
|
rs745651761
|
0.00007
|
NM_004744.5(LRAT):c.*81T>C
|
rs763149722
|
0.00007
|
NM_004744.5(LRAT):c.80C>G (p.Ser27Trp)
|
rs141705269
|
0.00007
|
NM_005802.5(TOPORS):c.*309G>A
|
rs531812368
|
0.00007
|
NM_005802.5(TOPORS):c.*640T>A
|
rs753971890
|
0.00007
|
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)
|
rs201870277
|
0.00007
|
NM_006017.3(PROM1):c.717C>T (p.Gly239=)
|
rs763697898
|
0.00007
|
NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr)
|
rs147384119
|
0.00007
|
NM_014336.5(AIPL1):c.*147A>C
|
rs886053267
|
0.00007
|
NM_014336.5(AIPL1):c.*280G>A
|
rs886053261
|
0.00007
|
NM_015629.4(PRPF31):c.177+4A>T
|
rs368136864
|
0.00007
|
NM_016247.4(IMPG2):c.2700G>A (p.Val900=)
|
rs200353662
|
0.00007
|
NM_018418.5(SPATA7):c.1216-4C>T
|
rs755958987
|
0.00007
|
NM_018418.5(SPATA7):c.937G>A (p.Ala313Thr)
|
rs143812944
|
0.00007
|
NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys)
|
rs749413012
|
0.00007
|
NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu)
|
rs201943133
|
0.00007
|
NM_144631.6(ZNF513):c.-51C>T
|
rs770982327
|
0.00007
|
NM_144631.6(ZNF513):c.619C>T (p.Arg207Cys)
|
rs140620118
|
0.00007
|
NM_201253.2(CRB1):c.-195G>A
|
rs886045782
|
0.00007
|
NM_205861.3(DHDDS):c.*620C>T
|
rs1057515470
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_000283.3(PDE6B):c.*764G>A
|
rs575639886
|
0.00006
|
NM_000283.4(PDE6B):c.*611G>A
|
rs1374125665
|
0.00006
|
NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=)
|
rs750323428
|
0.00006
|
NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr)
|
rs149880099
|
0.00006
|
NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu)
|
rs189172362
|
0.00006
|
NM_000283.4(PDE6B):c.59G>A (p.Arg20His)
|
rs781251175
|
0.00006
|
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile)
|
rs201584824
|
0.00006
|
NM_000283.4(PDE6B):c.699G>A (p.Thr233=)
|
rs148264146
|
0.00006
|
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)
|
rs752365478
|
0.00006
|
NM_000326.5(RLBP1):c.107C>T (p.Pro36Leu)
|
rs200143313
|
0.00006
|
NM_000327.4(ROM1):c.*109G>A
|
rs757950484
|
0.00006
|
NM_000327.4(ROM1):c.950A>G (p.Asp317Gly)
|
rs199827702
|
0.00006
|
NM_000329.3(RPE65):c.1238G>A (p.Arg413His)
|
rs200950327
|
0.00006
|
NM_000440.3(PDE6A):c.*1867A>T
|
rs971352928
|
0.00006
|
NM_000440.3(PDE6A):c.*522T>G
|
rs941850883
|
0.00006
|
NM_000440.3(PDE6A):c.2275-1G>A
|
rs1428612396
|
0.00006
|
NM_000539.3(RHO):c.*551G>A
|
rs933661466
|
0.00006
|
NM_000541.5(SAG):c.468C>T (p.Phe156=)
|
rs375593027
|
0.00006
|
NM_000541.5(SAG):c.838A>G (p.Lys280Glu)
|
rs373986650
|
0.00006
|
NM_000554.6(CRX):c.*16T>C
|
rs371964860
|
0.00006
|
NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met)
|
rs150278198
|
0.00006
|
NM_001029883.3(PCARE):c.*3040C>T
|
rs747798677
|
0.00006
|
NM_001029883.3(PCARE):c.*34C>A
|
rs745626992
|
0.00006
|
NM_001029883.3(PCARE):c.*857C>T
|
rs538810981
|
0.00006
|
NM_001029883.3(PCARE):c.*874G>A
|
rs886055917
|
0.00006
|
NM_001029883.3(PCARE):c.1024G>A (p.Gly342Ser)
|
rs748520550
|
0.00006
|
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=)
|
rs754808908
|
0.00006
|
NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met)
|
rs202166083
|
0.00006
|
NM_001077620.3(PRCD):c.75-3C>G
|
rs200091367
|
0.00006
|
NM_001142800.2(EYS):c.-272T>C
|
rs747914953
|
0.00006
|
NM_001142800.2(EYS):c.-332-10C>T
|
rs868706829
|
0.00006
|
NM_001142800.2(EYS):c.1950G>A (p.Ala650=)
|
rs565864295
|
0.00006
|
NM_001142800.2(EYS):c.2738+13T>C
|
rs886061682
|
0.00006
|
NM_001142800.2(EYS):c.2890G>A (p.Glu964Lys)
|
rs886061681
|
0.00006
|
NM_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del)
|
rs756068592
|
0.00006
|
NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro)
|
rs201916371
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln)
|
rs142258123
|
0.00006
|
NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe)
|
rs181974243
|
0.00006
|
NM_001297.5(CNGB1):c.2634+6G>A
|
rs374018113
|
0.00006
|
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=)
|
rs543509332
|
0.00006
|
NM_001297.5(CNGB1):c.2978G>A (p.Gly993Glu)
|
rs121918532
|
0.00006
|
NM_001297.5(CNGB1):c.976G>C (p.Gly326Arg)
|
rs763165985
|
0.00006
|
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser)
|
rs373448145
|
0.00006
|
NM_002900.3(RBP3):c.2556C>T (p.Ala852=)
|
rs375422843
|
0.00006
|
NM_003322.6(TULP1):c.296A>G (p.Lys99Arg)
|
rs145518705
|
0.00006
|
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)
|
rs199529046
|
0.00006
|
NM_004744.5(LRAT):c.*106T>C
|
rs189439579
|
0.00006
|
NM_004744.5(LRAT):c.*1585T>G
|
rs886059168
|
0.00006
|
NM_005802.5(TOPORS):c.*47A>G
|
rs778217226
|
0.00006
|
NM_005802.5(TOPORS):c.671A>G (p.Asp224Gly)
|
rs147071021
|
0.00006
|
NM_006017.3(PROM1):c.*580T>A
|
rs1250583925
|
0.00006
|
NM_006017.3(PROM1):c.277-15C>T
|
rs372599685
|
0.00006
|
NM_006269.2(RP1):c.1595A>G (p.Glu532Gly)
|
rs371028735
|
0.00006
|
NM_006269.2(RP1):c.3399C>G (p.Leu1133=)
|
rs746723674
|
0.00006
|
NM_006269.2(RP1):c.4642A>T (p.Ser1548Cys)
|
rs941588545
|
0.00006
|
NM_006269.2(RP1):c.4856A>G (p.Gln1619Arg)
|
rs113911625
|
0.00006
|
NM_006269.2(RP1):c.4932A>G (p.Pro1644=)
|
rs111445591
|
0.00006
|
NM_006269.2(RP1):c.5123C>T (p.Ala1708Val)
|
rs373678545
|
0.00006
|
NM_006343.3(MERTK):c.207G>C (p.Gln69His)
|
rs200120223
|
0.00006
|
NM_006343.3(MERTK):c.710G>A (p.Arg237His)
|
rs199707021
|
0.00006
|
NM_006445.4(PRPF8):c.*11G>T
|
rs767915818
|
0.00006
|
NM_006445.4(PRPF8):c.6511-3T>C
|
rs199665387
|
0.00006
|
NM_006899.5(IDH3B):c.1132G>A (p.Gly378Ser)
|
rs376112899
|
0.00006
|
NM_012469.4(PRPF6):c.2688G>T (p.Glu896Asp)
|
rs140112205
|
0.00006
|
NM_012469.4(PRPF6):c.616-7C>T
|
rs368728762
|
0.00006
|
NM_014014.5(SNRNP200):c.1485G>A (p.Thr495=)
|
rs142142479
|
0.00006
|
NM_014249.4(NR2E3):c.119-8C>T
|
rs373874970
|
0.00006
|
NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe)
|
rs767828150
|
0.00006
|
NM_014249.4(NR2E3):c.645C>T (p.Cys215=)
|
rs375133059
|
0.00006
|
NM_014336.5(AIPL1):c.*1288C>T
|
rs553220927
|
0.00006
|
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln)
|
rs181630986
|
0.00006
|
NM_014336.5(AIPL1):c.562C>T (p.Leu188Phe)
|
rs146153236
|
0.00006
|
NM_015629.4(PRPF31):c.*190T>C
|
rs770812141
|
0.00006
|
NM_015629.4(PRPF31):c.1297G>A (p.Val433Ile)
|
rs201906830
|
0.00006
|
NM_015629.4(PRPF31):c.420+11A>G
|
rs371910233
|
0.00006
|
NM_016247.4(IMPG2):c.*2909C>T
|
rs138314103
|
0.00006
|
NM_016247.4(IMPG2):c.2093C>T (p.Ala698Val)
|
rs767082811
|
0.00006
|
NM_016247.4(IMPG2):c.2154C>A (p.Thr718=)
|
rs755250590
|
0.00006
|
NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp)
|
rs770293441
|
0.00006
|
NM_016247.4(IMPG2):c.972C>T (p.Asp324=)
|
rs762052051
|
0.00006
|
NM_018191.4(RCBTB1):c.1151A>G (p.His384Arg)
|
rs143970072
|
0.00006
|
NM_022367.4(SEMA4A):c.1653C>A (p.Pro551=)
|
rs757466000
|
0.00006
|
NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr)
|
rs747089050
|
0.00006
|
NM_144596.4(TTC8):c.*247T>C
|
rs886050879
|
0.00006
|
NM_153265.3(EML3):c.-283G>A
|
rs922097086
|
0.00006
|
NM_205861.3(DHDDS):c.*109C>T
|
rs1032593244
|
0.00006
|
NM_205861.3(DHDDS):c.*1571A>C
|
rs900974941
|
0.00006
|
NM_205861.3(DHDDS):c.*174G>T
|
rs1022655060
|
0.00006
|
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)
|
rs150822759
|
0.00006
|
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile)
|
rs138694314
|
0.00006
|
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
|
rs567937233
|
0.00006
|
NM_206933.4(USH2A):c.1A>G (p.Met1Val)
|
rs924627806
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_206933.4(USH2A):c.4627+510G>A
|
rs941646674
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_000283.3(PDE6B):c.*797G>A
|
rs1463865281
|
0.00005
|
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)
|
rs145124626
|
0.00005
|
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)
|
rs183714869
|
0.00005
|
NM_000329.3(RPE65):c.565G>A (p.Val189Ile)
|
rs752990312
|
0.00005
|
NM_000440.3(PDE6A):c.*1339T>G
|
rs911447952
|
0.00005
|
NM_000440.3(PDE6A):c.*1389T>C
|
rs886060210
|
0.00005
|
NM_000440.3(PDE6A):c.*2717G>A
|
rs578087908
|
0.00005
|
NM_000440.3(PDE6A):c.1296A>G (p.Leu432=)
|
rs372161698
|
0.00005
|
NM_000440.3(PDE6A):c.285C>T (p.Ser95=)
|
rs765008436
|
0.00005
|
NM_000440.3(PDE6A):c.363C>T (p.Leu121=)
|
rs767520227
|
0.00005
|
NM_000539.3(RHO):c.*285G>A
|
rs1487459358
|
0.00005
|
NM_000539.3(RHO):c.697-11G>A
|
rs367631575
|
0.00005
|
NM_000541.5(SAG):c.*113C>T
|
rs1055247940
|
0.00005
|
NM_000541.5(SAG):c.154G>C (p.Asp52His)
|
rs200296556
|
0.00005
|
NM_000554.6(CRX):c.*2357G>A
|
rs1053302157
|
0.00005
|
NM_000554.6(CRX):c.*498G>A
|
rs1004933827
|
0.00005
|
NM_000554.6(CRX):c.606C>T (p.Cys202=)
|
rs764877352
|
0.00005
|
NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu)
|
rs763999626
|
0.00005
|
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=)
|
rs780213373
|
0.00005
|
NM_000883.4(IMPDH1):c.146+9C>T
|
rs749118285
|
0.00005
|
NM_001029883.3(PCARE):c.2898A>C (p.Pro966=)
|
rs187119693
|
0.00005
|
NM_001029883.3(PCARE):c.3254C>T (p.Ser1085Leu)
|
rs202213660
|
0.00005
|
NM_001029883.3(PCARE):c.3590G>A (p.Arg1197His)
|
rs375769419
|
0.00005
|
NM_001029883.3(PCARE):c.3605G>A (p.Arg1202Gln)
|
rs200071634
|
0.00005
|
NM_001077620.3(PRCD):c.*1343C>T
|
rs886053481
|
0.00005
|
NM_001077620.3(PRCD):c.*1410G>C
|
rs374415732
|
0.00005
|
NM_001142800.2(EYS):c.4115C>T (p.Pro1372Leu)
|
rs569134881
|
0.00005
|
NM_001142800.2(EYS):c.522C>T (p.Cys174=)
|
rs373343831
|
0.00005
|
NM_001142800.2(EYS):c.6961A>C (p.Ile2321Leu)
|
rs149823162
|
0.00005
|
NM_001201543.2(FAM161A):c.*1432T>C
|
rs558710194
|
0.00005
|
NM_001201543.2(FAM161A):c.1583+13G>A
|
rs200160715
|
0.00005
|
NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp)
|
rs201618364
|
0.00005
|
NM_001297.5(CNGB1):c.*1676A>G
|
rs971052014
|
0.00005
|
NM_001297.5(CNGB1):c.1322C>T (p.Ala441Val)
|
rs376374823
|
0.00005
|
NM_001297.5(CNGB1):c.1733G>A (p.Arg578Gln)
|
rs371998765
|
0.00005
|
NM_002098.6(GUCA1B):c.570C>T (p.Leu190=)
|
rs200001533
|
0.00005
|
NM_002602.4(PDE6G):c.51C>T (p.Ala17=)
|
rs775425650
|
0.00005
|
NM_002900.3(RBP3):c.2125G>T (p.Val709Leu)
|
rs782171257
|
0.00005
|
NM_004183.4(BEST1):c.1064G>A (p.Arg355His)
|
rs368356148
|
0.00005
|
NM_005802.5(TOPORS):c.*341T>C
|
rs563137078
|
0.00005
|
NM_005802.5(TOPORS):c.1707A>G (p.Ser569=)
|
rs368712338
|
0.00005
|
NM_005802.5(TOPORS):c.715C>A (p.Pro239Thr)
|
rs373410505
|
0.00005
|
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)
|
rs201748228
|
0.00005
|
NM_006017.3(PROM1):c.1344C>T (p.Ile448=)
|
rs147174580
|
0.00005
|
NM_006017.3(PROM1):c.2582+9A>C
|
rs200033458
|
0.00005
|
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg)
|
rs752543587
|
0.00005
|
NM_006269.2(RP1):c.1841A>G (p.His614Arg)
|
rs762549305
|
0.00005
|
NM_006269.2(RP1):c.1980T>A (p.Asn660Lys)
|
rs886062990
|
0.00005
|
NM_006343.3(MERTK):c.1436T>A (p.Phe479Tyr)
|
rs145142422
|
0.00005
|
NM_006445.4(PRPF8):c.6447G>A (p.Pro2149=)
|
rs140315637
|
0.00005
|
NM_006899.5(IDH3B):c.830T>C (p.Ile277Thr)
|
rs761437016
|
0.00005
|
NM_006915.3(RP2):c.*1458G>A
|
rs1057515895
|
0.00005
|
NM_014014.5(SNRNP200):c.1098C>T (p.Thr366=)
|
rs774935614
|
0.00005
|
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr)
|
rs199736893
|
0.00005
|
NM_014014.5(SNRNP200):c.4966G>A (p.Val1656Met)
|
rs142585893
|
0.00005
|
NM_014249.4(NR2E3):c.428C>T (p.Pro143Leu)
|
rs776742417
|
0.00005
|
NM_014336.5(AIPL1):c.900G>C (p.Ala300=)
|
rs373590751
|
0.00005
|
NM_016247.4(IMPG2):c.*212G>T
|
rs981935479
|
0.00005
|
NM_016247.4(IMPG2):c.*3287C>G
|
rs753790568
|
0.00005
|
NM_016247.4(IMPG2):c.*372A>C
|
rs764107922
|
0.00005
|
NM_016247.4(IMPG2):c.165C>T (p.Asp55=)
|
rs145388804
|
0.00005
|
NM_022367.4(SEMA4A):c.*187G>A
|
rs767596816
|
0.00005
|
NM_144631.6(ZNF513):c.1225G>A (p.Val409Ile)
|
rs371898387
|
0.00005
|
NM_144631.6(ZNF513):c.1443G>A (p.Thr481=)
|
rs566881806
|
0.00005
|
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=)
|
rs780576185
|
0.00005
|
NM_201548.5(CERKL):c.*1371C>T
|
rs984330083
|
0.00005
|
NM_201548.5(CERKL):c.15G>A (p.Arg5=)
|
rs762405291
|
0.00005
|
NM_206933.4(USH2A):c.1346G>A (p.Arg449His)
|
rs766715882
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
NM_206933.4(USH2A):c.4627+10T>C
|
rs148657311
|
0.00005
|
NM_206933.4(USH2A):c.4627+610G>A
|
rs886045947
|
0.00005
|
NM_000283.4(PDE6B):c.*381C>T
|
rs1023673457
|
0.00004
|
NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp)
|
rs200079698
|
0.00004
|
NM_000283.4(PDE6B):c.698C>T (p.Thr233Met)
|
rs752852029
|
0.00004
|
NM_000283.4(PDE6B):c.789G>A (p.Thr263=)
|
rs138789637
|
0.00004
|
NM_000322.5(PRPH2):c.*417A>T
|
rs531859483
|
0.00004
|
NM_000322.5(PRPH2):c.*917G>A
|
rs185036139
|
0.00004
|
NM_000322.5(PRPH2):c.312C>T (p.Ile104=)
|
rs200009675
|
0.00004
|
NM_000327.3(ROM1):c.-237G>T
|
rs1029157002
|
0.00004
|
NM_000327.4(ROM1):c.859C>T (p.Arg287Trp)
|
rs768652143
|
0.00004
|
NM_000329.3(RPE65):c.*517G>A
|
rs574708413
|
0.00004
|
NM_000329.3(RPE65):c.1129-5C>T
|
rs368533067
|
0.00004
|
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser)
|
rs144612129
|
0.00004
|
NM_000329.3(RPE65):c.942C>T (p.His314=)
|
rs752875512
|
0.00004
|
NM_000440.3(PDE6A):c.1349T>C (p.Phe450Ser)
|
rs185588836
|
0.00004
|
NM_000440.3(PDE6A):c.1824C>G (p.Asn608Lys)
|
rs773601046
|
0.00004
|
NM_000440.3(PDE6A):c.1874C>T (p.Ser625Phe)
|
rs201535083
|
0.00004
|
NM_000440.3(PDE6A):c.384C>T (p.Pro128=)
|
rs192618681
|
0.00004
|
NM_000539.3(RHO):c.1025C>T (p.Thr342Met)
|
rs183318466
|
0.00004
|
NM_000539.3(RHO):c.759G>T (p.Met253Ile)
|
rs756658659
|
0.00004
|
NM_000554.6(CRX):c.*2589T>C
|
rs530478127
|
0.00004
|
NM_000883.4(IMPDH1):c.*259G>A
|
rs535964010
|
0.00004
|
NM_000883.4(IMPDH1):c.561C>T (p.Asn187=)
|
rs1042250
|
0.00004
|
NM_001012720.2(RGR):c.259G>A (p.Gly87Ser)
|
rs369457258
|
0.00004
|
NM_001012720.2(RGR):c.630+2T>A
|
rs775282095
|
0.00004
|
NM_001029883.3(PCARE):c.*1140T>C
|
rs1006234504
|
0.00004
|
NM_001029883.3(PCARE):c.*1224C>G
|
rs886055916
|
0.00004
|
NM_001029883.3(PCARE):c.*929G>A
|
rs1192177517
|
0.00004
|
NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr)
|
rs377498611
|
0.00004
|
NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=)
|
rs189904739
|
0.00004
|
NM_001029883.3(PCARE):c.3620C>A (p.Thr1207Asn)
|
rs372010073
|
0.00004
|
NM_001029883.3(PCARE):c.3676G>A (p.Glu1226Lys)
|
rs201781577
|
0.00004
|
NM_001029883.3(PCARE):c.459G>A (p.Thr153=)
|
rs372665350
|
0.00004
|
NM_001031710.3(KLHL7):c.*36A>C
|
rs747687873
|
0.00004
|
NM_001031710.3(KLHL7):c.*376G>A
|
rs556366574
|
0.00004
|
NM_001077620.3(PRCD):c.*1188C>T
|
rs887925408
|
0.00004
|
NM_001077620.3(PRCD):c.*749C>T
|
rs776196684
|
0.00004
|
NM_001077620.3(PRCD):c.*907G>A
|
rs750306157
|
0.00004
|
NM_001077620.3(PRCD):c.-94G>A
|
rs892886625
|
0.00004
|
NM_001142800.2(EYS):c.1293A>T (p.Arg431Ser)
|
rs371607669
|
0.00004
|
NM_001142800.2(EYS):c.2222C>T (p.Ala741Val)
|
rs1009558644
|
0.00004
|
NM_001142800.2(EYS):c.2546G>A (p.Arg849His)
|
rs775080539
|
0.00004
|
NM_001142800.2(EYS):c.7411+11C>T
|
rs886061668
|
0.00004
|
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln)
|
rs528733427
|
0.00004
|
NM_001201543.2(FAM161A):c.*1299T>C
|
rs529941143
|
0.00004
|
NM_001201543.2(FAM161A):c.*1345G>A
|
rs765343041
|
0.00004
|
NM_001201543.2(FAM161A):c.1357G>C (p.Val453Leu)
|
rs973178862
|
0.00004
|
NM_001256789.3(CACNA1F):c.2968G>A (p.Gly990Arg)
|
rs782473510
|
0.00004
|
NM_001278293.3(ARL6):c.536-4T>C
|
rs201939836
|
0.00004
|
NM_001297.5(CNGB1):c.*235G>C
|
rs886052190
|
0.00004
|
NM_001297.5(CNGB1):c.*264T>G
|
rs1369634786
|
0.00004
|
NM_001297.5(CNGB1):c.*730C>A
|
rs554017838
|
0.00004
|
NM_001297.5(CNGB1):c.1870G>C (p.Glu624Gln)
|
rs373159617
|
0.00004
|
NM_001297.5(CNGB1):c.3309G>A (p.Ala1103=)
|
rs201319323
|
0.00004
|
NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln)
|
rs543712958
|
0.00004
|
NM_001297.5(CNGB1):c.534+1G>A
|
rs200862689
|
0.00004
|
NM_001297.5(CNGB1):c.965C>T (p.Thr322Ile)
|
rs757827406
|
0.00004
|
NM_001354768.3(NRL):c.*935C>T
|
rs184235122
|
0.00004
|
NM_001379270.1(CNGA1):c.*352C>T
|
rs921230822
|
0.00004
|
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His)
|
rs375412499
|
0.00004
|
NM_001385641.1(SAMD11):c.1585A>G (p.Lys529Glu)
|
rs1028575136
|
0.00004
|
NM_002098.6(GUCA1B):c.*451A>G
|
rs886061395
|
0.00004
|
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)
|
rs121909124
|
0.00004
|
NM_002900.3(RBP3):c.1581G>A (p.Pro527=)
|
rs782233629
|
0.00004
|
NM_002900.3(RBP3):c.2270T>G (p.Val757Gly)
|
rs17853945
|
0.00004
|
NM_002900.3(RBP3):c.258C>T (p.Arg86=)
|
rs376194840
|
0.00004
|
NM_002900.3(RBP3):c.2616G>A (p.Thr872=)
|
rs570062125
|
0.00004
|
NM_002900.3(RBP3):c.967C>T (p.Arg323Cys)
|
rs373982809
|
0.00004
|
NM_003322.6(TULP1):c.1495+3G>A
|
rs758668547
|
0.00004
|
NM_003322.6(TULP1):c.875G>A (p.Arg292Gln)
|
rs140460892
|
0.00004
|
NM_004698.4(PRPF3):c.*64A>G
|
rs886045263
|
0.00004
|
NM_004744.5(LRAT):c.*2417G>A
|
rs569981218
|
0.00004
|
NM_004744.5(LRAT):c.*3081A>C
|
rs779703148
|
0.00004
|
NM_004744.5(LRAT):c.-84C>T
|
rs886059160
|
0.00004
|
NM_005802.5(TOPORS):c.*308C>T
|
rs984434581
|
0.00004
|
NM_006017.3(PROM1):c.*1052G>A
|
rs577484119
|
0.00004
|
NM_006017.3(PROM1):c.*1070A>G
|
rs886059195
|
0.00004
|
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)
|
rs770268627
|
0.00004
|
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)
|
rs140682455
|
0.00004
|
NM_006017.3(PROM1):c.1407G>A (p.Pro469=)
|
rs763710252
|
0.00004
|
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr)
|
rs778896066
|
0.00004
|
NM_006017.3(PROM1):c.1579-12A>C
|
rs370183490
|
0.00004
|
NM_006017.3(PROM1):c.2364C>T (p.Ile788=)
|
rs551849678
|
0.00004
|
NM_006269.2(RP1):c.*78G>T
|
rs551504653
|
0.00004
|
NM_006269.2(RP1):c.-37T>C
|
rs769599875
|
0.00004
|
NM_006269.2(RP1):c.141A>G (p.Gln47=)
|
rs372249141
|
0.00004
|
NM_006269.2(RP1):c.3198G>A (p.Glu1066=)
|
rs759707480
|
0.00004
|
NM_006269.2(RP1):c.3579C>T (p.His1193=)
|
rs777012140
|
0.00004
|
NM_006269.2(RP1):c.4699A>G (p.Met1567Val)
|
rs374421129
|
0.00004
|
NM_006269.2(RP1):c.5610C>G (p.Ser1870=)
|
rs762475732
|
0.00004
|
NM_006445.4(PRPF8):c.3729C>T (p.Arg1243=)
|
rs370510856
|
0.00004
|
NM_006445.4(PRPF8):c.4792G>A (p.Asp1598Asn)
|
rs759664867
|
0.00004
|
NM_006445.4(PRPF8):c.4947-5C>T
|
rs190909610
|
0.00004
|
NM_006899.5(IDH3B):c.*139G>A
|
rs1047114761
|
0.00004
|
NM_006899.5(IDH3B):c.118-6A>G
|
rs532273295
|
0.00004
|
NM_006899.5(IDH3B):c.426A>G (p.Val142=)
|
rs760619105
|
0.00004
|
NM_012469.4(PRPF6):c.*27G>A
|
rs373166087
|
0.00004
|
NM_012469.4(PRPF6):c.616-10T>G
|
rs376559986
|
0.00004
|
NM_014014.5(SNRNP200):c.-16C>T
|
rs375009722
|
0.00004
|
NM_014014.5(SNRNP200):c.2005C>T (p.Pro669Ser)
|
rs749791210
|
0.00004
|
NM_014014.5(SNRNP200):c.2716G>A (p.Val906Met)
|
rs769979612
|
0.00004
|
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=)
|
rs377641548
|
0.00004
|
NM_014014.5(SNRNP200):c.651C>T (p.Tyr217=)
|
rs147219591
|
0.00004
|
NM_014249.4(NR2E3):c.444T>C (p.Ala148=)
|
rs533192044
|
0.00004
|
NM_014336.5(AIPL1):c.538G>A (p.Val180Ile)
|
rs761059176
|
0.00004
|
NM_014989.7(RIMS1):c.2758G>A (p.Val920Ile)
|
rs376566413
|
0.00004
|
NM_016247.4(IMPG2):c.*1598C>T
|
rs886057673
|
0.00004
|
NM_016247.4(IMPG2):c.*2042G>C
|
rs1484104523
|
0.00004
|
NM_016247.4(IMPG2):c.*2385T>A
|
rs748729628
|
0.00004
|
NM_016247.4(IMPG2):c.*2966C>T
|
rs950996646
|
0.00004
|
NM_016247.4(IMPG2):c.21T>G (p.Phe7Leu)
|
rs193120038
|
0.00004
|
NM_016247.4(IMPG2):c.3288G>A (p.Val1096=)
|
rs190315698
|
0.00004
|
NM_018418.5(SPATA7):c.1028+5A>G
|
rs368848333
|
0.00004
|
NM_018418.5(SPATA7):c.913-14T>A
|
rs185459765
|
0.00004
|
NM_022367.4(SEMA4A):c.*179C>T
|
rs886045367
|
0.00004
|
NM_022367.4(SEMA4A):c.*667C>T
|
rs1014678624
|
0.00004
|
NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp)
|
rs201094714
|
0.00004
|
NM_144596.4(TTC8):c.800T>A (p.Val267Asp)
|
rs770333148
|
0.00004
|
NM_144631.6(ZNF513):c.1432G>A (p.Ala478Thr)
|
rs143734828
|
0.00004
|
NM_144631.6(ZNF513):c.537C>T (p.Arg179=)
|
rs374192541
|
0.00004
|
NM_144631.6(ZNF513):c.740G>A (p.Arg247Gln)
|
rs139008988
|
0.00004
|
NM_152443.3(RDH12):c.*310T>C
|
rs780725917
|
0.00004
|
NM_201253.3(CRB1):c.*289A>G
|
rs780654592
|
0.00004
|
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu)
|
rs62636286
|
0.00004
|
NM_201253.3(CRB1):c.2419C>T (p.Leu807=)
|
rs371089348
|
0.00004
|
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala)
|
rs886045787
|
0.00004
|
NM_201548.5(CERKL):c.*306C>T
|
rs748428407
|
0.00004
|
NM_201548.5(CERKL):c.950G>A (p.Arg317His)
|
rs150587104
|
0.00004
|
NM_203288.2(RP9):c.*82A>T
|
rs943352965
|
0.00004
|
NM_205861.3(DHDDS):c.*1464C>T
|
rs766594382
|
0.00004
|
NM_205861.3(DHDDS):c.*404C>G
|
rs572009346
|
0.00004
|
NM_206933.4(USH2A):c.-305C>G
|
rs1430551833
|
0.00004
|
NM_206933.4(USH2A):c.-355C>G
|
rs868097748
|
0.00004
|
NM_206933.4(USH2A):c.126C>T (p.Asn42=)
|
rs774473277
|
0.00004
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)
|
rs766038321
|
0.00004
|
NM_206933.4(USH2A):c.3780T>C (p.His1260=)
|
rs759937489
|
0.00004
|
NM_000260.4(MYO7A):c.5929C>T (p.Arg1977Trp)
|
rs781586223
|
0.00003
|
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp)
|
rs199974771
|
0.00003
|
NM_000283.4(PDE6B):c.1426G>A (p.Glu476Lys)
|
rs746783836
|
0.00003
|
NM_000283.4(PDE6B):c.285C>T (p.Phe95=)
|
rs746211772
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000283.4(PDE6B):c.387G>T (p.Glu129Asp)
|
rs752303143
|
0.00003
|
NM_000322.5(PRPH2):c.*692C>T
|
rs949736334
|
0.00003
|
NM_000322.5(PRPH2):c.-59G>A
|
rs886061405
|
0.00003
|
NM_000327.4(ROM1):c.180dup (p.Val61fs)
|
rs748976215
|
0.00003
|
NM_000327.4(ROM1):c.230G>A (p.Gly77Glu)
|
rs1036187889
|
0.00003
|
NM_000327.4(ROM1):c.502T>C (p.Cys168Arg)
|
rs201202592
|
0.00003
|
NM_000327.4(ROM1):c.70C>T (p.Leu24Phe)
|
rs766769824
|
0.00003
|
NM_000327.4(ROM1):c.926A>C (p.Tyr309Ser)
|
rs374968800
|
0.00003
|
NM_000329.3(RPE65):c.1338+8A>G
|
rs777211540
|
0.00003
|
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu)
|
rs201062742
|
0.00003
|
NM_000440.3(PDE6A):c.*1335C>T
|
rs879722083
|
0.00003
|
NM_000440.3(PDE6A):c.1255C>T (p.Leu419Phe)
|
rs141370975
|
0.00003
|
NM_000440.3(PDE6A):c.397G>A (p.Val133Ile)
|
rs768596256
|
0.00003
|
NM_000440.3(PDE6A):c.758C>T (p.Thr253Met)
|
rs778857421
|
0.00003
|
NM_000539.3(RHO):c.*115G>A
|
rs886057969
|
0.00003
|
NM_000539.3(RHO):c.*1294A>G
|
rs1047324551
|
0.00003
|
NM_000539.3(RHO):c.*440C>G
|
rs886057971
|
0.00003
|
NM_000539.3(RHO):c.440G>A (p.Arg147His)
|
rs746468201
|
0.00003
|
NM_000541.5(SAG):c.269C>G (p.Ser90Cys)
|
rs531041701
|
0.00003
|
NM_000554.6(CRX):c.*132G>A
|
rs886054548
|
0.00003
|
NM_000554.6(CRX):c.*2573C>T
|
rs886054559
|
0.00003
|
NM_000554.6(CRX):c.*2889G>A
|
rs886054561
|
0.00003
|
NM_000883.4(IMPDH1):c.*321G>T
|
rs571536404
|
0.00003
|
NM_000883.4(IMPDH1):c.-59G>A
|
rs886061985
|
0.00003
|
NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln)
|
rs201071873
|
0.00003
|
NM_001012720.2(RGR):c.*220C>G
|
rs886047352
|
0.00003
|
NM_001012720.2(RGR):c.460G>A (p.Asp154Asn)
|
rs750768609
|
0.00003
|
NM_001012720.2(RGR):c.612G>A (p.Gly204=)
|
rs749839913
|
0.00003
|
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr)
|
rs377043137
|
0.00003
|
NM_001029883.3(PCARE):c.*395T>G
|
rs941674134
|
0.00003
|
NM_001029883.3(PCARE):c.1740G>A (p.Thr580=)
|
rs546110503
|
0.00003
|
NM_001029883.3(PCARE):c.2287A>G (p.Ile763Val)
|
rs886055921
|
0.00003
|
NM_001029883.3(PCARE):c.944G>A (p.Arg315Lys)
|
rs756484547
|
0.00003
|
NM_001031710.3(KLHL7):c.*232A>G
|
rs886062219
|
0.00003
|
NM_001077620.3(PRCD):c.*1010G>A
|
rs971307074
|
0.00003
|
NM_001077620.3(PRCD):c.*578C>G
|
rs756335948
|
0.00003
|
NM_001142800.2(EYS):c.2857A>G (p.Asn953Asp)
|
rs1326644818
|
0.00003
|
NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly)
|
rs368856942
|
0.00003
|
NM_001142800.2(EYS):c.5654G>T (p.Cys1885Phe)
|
rs528824271
|
0.00003
|
NM_001142800.2(EYS):c.5776G>C (p.Asp1926His)
|
rs1051421896
|
0.00003
|
NM_001142800.2(EYS):c.6010G>A (p.Gly2004Arg)
|
rs535282640
|
0.00003
|
NM_001142800.2(EYS):c.632G>T (p.Cys211Phe)
|
rs772707303
|
0.00003
|
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val)
|
rs184448644
|
0.00003
|
NM_001142800.2(EYS):c.6822C>A (p.Ser2274=)
|
rs1055095941
|
0.00003
|
NM_001142800.2(EYS):c.6912G>A (p.Gly2304=)
|
rs745961740
|
0.00003
|
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser)
|
rs145184183
|
0.00003
|
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys)
|
rs572189652
|
0.00003
|
NM_001201543.2(FAM161A):c.*752A>G
|
rs886056217
|
0.00003
|
NM_001201543.2(FAM161A):c.159A>G (p.Lys53=)
|
rs1184952883
|
0.00003
|
NM_001297.5(CNGB1):c.*111T>C
|
rs556523294
|
0.00003
|
NM_001297.5(CNGB1):c.*601G>A
|
rs574111364
|
0.00003
|
NM_001297.5(CNGB1):c.1802-14A>G
|
rs751916833
|
0.00003
|
NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu)
|
rs761295014
|
0.00003
|
NM_001297.5(CNGB1):c.3330C>T (p.Asn1110=)
|
rs566102644
|
0.00003
|
NM_001297.5(CNGB1):c.417C>A (p.Cys139Ter)
|
rs1346391067
|
0.00003
|
NM_001354768.3(NRL):c.425T>C (p.Val142Ala)
|
rs576841649
|
0.00003
|
NM_001379270.1(CNGA1):c.-163G>A
|
rs1023154953
|
0.00003
|
NM_001379270.1(CNGA1):c.1237A>G (p.Ile413Val)
|
rs200148364
|
0.00003
|
NM_001379270.1(CNGA1):c.1463T>C (p.Val488Ala)
|
rs374880057
|
0.00003
|
NM_002098.6(GUCA1B):c.*95T>C
|
rs886061398
|
0.00003
|
NM_002602.4(PDE6G):c.117G>C (p.Lys39Asn)
|
rs181137206
|
0.00003
|
NM_002602.4(PDE6G):c.81C>T (p.Pro27=)
|
rs546019967
|
0.00003
|
NM_002900.3(RBP3):c.1264C>T (p.Arg422Trp)
|
rs199801954
|
0.00003
|
NM_002900.3(RBP3):c.2407G>A (p.Ala803Thr)
|
rs782632795
|
0.00003
|
NM_002900.3(RBP3):c.2871G>T (p.Leu957=)
|
rs377374761
|
0.00003
|
NM_002900.3(RBP3):c.2949G>C (p.Glu983Asp)
|
rs886047016
|
0.00003
|
NM_002900.3(RBP3):c.962C>T (p.Thr321Ile)
|
rs376854254
|
0.00003
|
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp)
|
rs757536535
|
0.00003
|
NM_004698.4(PRPF3):c.1526+14G>T
|
rs376006808
|
0.00003
|
NM_004744.5(LRAT):c.*2190C>T
|
rs886059169
|
0.00003
|
NM_004744.5(LRAT):c.*2453C>A
|
rs886059171
|
0.00003
|
NM_005802.5(TOPORS):c.2048G>A (p.Arg683Gln)
|
rs149570596
|
0.00003
|
NM_006017.3(PROM1):c.1301+10T>A
|
rs192338518
|
0.00003
|
NM_006017.3(PROM1):c.1301+11C>A
|
rs189953160
|
0.00003
|
NM_006017.3(PROM1):c.276+15G>T
|
rs766012920
|
0.00003
|
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)
|
rs180729424
|
0.00003
|
NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser)
|
rs756000109
|
0.00003
|
NM_006343.3(MERTK):c.*309C>A
|
rs886054762
|
0.00003
|
NM_006343.3(MERTK):c.138C>G (p.Asp46Glu)
|
rs527694612
|
0.00003
|
NM_006343.3(MERTK):c.1441C>T (p.Pro481Ser)
|
rs781442827
|
0.00003
|
NM_006343.3(MERTK):c.1885C>T (p.Arg629Trp)
|
rs749774293
|
0.00003
|
NM_006343.3(MERTK):c.61+3G>C
|
rs746981720
|
0.00003
|
NM_006445.4(PRPF8):c.*167A>G
|
rs753906300
|
0.00003
|
NM_006445.4(PRPF8):c.2790C>T (p.Ala930=)
|
rs779910932
|
0.00003
|
NM_006915.3(RP2):c.*1081C>T
|
rs782529175
|
0.00003
|
NM_012469.4(PRPF6):c.-83A>G
|
rs527686294
|
0.00003
|
NM_012469.4(PRPF6):c.867-6T>C
|
rs200951432
|
0.00003
|
NM_014014.5(SNRNP200):c.*287C>G
|
rs754113881
|
0.00003
|
NM_014014.5(SNRNP200):c.2927C>T (p.Thr976Met)
|
rs368406136
|
0.00003
|
NM_014249.4(NR2E3):c.*453G>T
|
rs886051457
|
0.00003
|
NM_014249.4(NR2E3):c.245+9G>A
|
rs538864090
|
0.00003
|
NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp)
|
rs759765652
|
0.00003
|
NM_014336.5(AIPL1):c.*1017C>T
|
rs868498336
|
0.00003
|
NM_014336.5(AIPL1):c.*112A>T
|
rs953523528
|
0.00003
|
NM_014336.5(AIPL1):c.*1444G>A
|
rs886053258
|
0.00003
|
NM_014336.5(AIPL1):c.*146A>C
|
rs898046851
|
0.00003
|
NM_014336.5(AIPL1):c.1054G>A (p.Ala352Thr)
|
rs751700711
|
0.00003
|
NM_014336.5(AIPL1):c.785-11G>A
|
rs199772097
|
0.00003
|
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)
|
rs767213195
|
0.00003
|
NM_015629.4(PRPF31):c.177+7G>A
|
rs886054618
|
0.00003
|
NM_015629.4(PRPF31):c.557G>A (p.Arg186Gln)
|
rs776437225
|
0.00003
|
NM_016247.4(IMPG2):c.*3007G>A
|
rs553006996
|
0.00003
|
NM_016247.4(IMPG2):c.*345C>T
|
rs886057684
|
0.00003
|
NM_016247.4(IMPG2):c.*3619C>T
|
rs886057667
|
0.00003
|
NM_016247.4(IMPG2):c.1173C>A (p.His391Gln)
|
rs772639885
|
0.00003
|
NM_016247.4(IMPG2):c.1553A>G (p.Asn518Ser)
|
rs200892260
|
0.00003
|
NM_016247.4(IMPG2):c.2372A>G (p.Glu791Gly)
|
rs752321097
|
0.00003
|
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln)
|
rs139105788
|
0.00003
|
NM_201253.3(CRB1):c.2874C>T (p.Ser958=)
|
rs372778560
|
0.00003
|
NM_201548.5(CERKL):c.*743G>A
|
rs201433997
|
0.00003
|
NM_201548.5(CERKL):c.*869C>T
|
rs886055314
|
0.00003
|
NM_201548.5(CERKL):c.1596G>A (p.Lys532=)
|
rs752334385
|
0.00003
|
NM_201548.5(CERKL):c.770G>A (p.Arg257Gln)
|
rs762961333
|
0.00003
|
NM_205861.3(DHDDS):c.*1439C>G
|
rs980945484
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.4627+686T>A
|
rs977631162
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn)
|
rs539768252
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met)
|
rs369980987
|
0.00002
|
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=)
|
rs769147926
|
0.00002
|
NM_000283.4(PDE6B):c.2352+13C>T
|
rs374527841
|
0.00002
|
NM_000283.4(PDE6B):c.258C>T (p.Leu86=)
|
rs886059520
|
0.00002
|
NM_000283.4(PDE6B):c.297G>A (p.Gln99=)
|
rs768652560
|
0.00002
|
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)
|
rs398123299
|
0.00002
|
NM_000283.4(PDE6B):c.316C>T (p.Leu106=)
|
rs752429712
|
0.00002
|
NM_000283.4(PDE6B):c.469-5G>A
|
rs530695084
|
0.00002
|
NM_000322.5(PRPH2):c.454A>G (p.Met152Val)
|
rs146703538
|
0.00002
|
NM_000322.5(PRPH2):c.801C>T (p.Val267=)
|
rs189358082
|
0.00002
|
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu)
|
rs139329966
|
0.00002
|
NM_000326.5(RLBP1):c.-169T>A
|
rs903050784
|
0.00002
|
NM_000326.5(RLBP1):c.-234C>T
|
rs779779512
|
0.00002
|
NM_000326.5(RLBP1):c.-72C>T
|
rs886051501
|
0.00002
|
NM_000326.5(RLBP1):c.525+14C>T
|
rs1173705310
|
0.00002
|
NM_000327.4(ROM1):c.*14G>C
|
rs202210450
|
0.00002
|
NM_000329.3(RPE65):c.*560C>T
|
rs1045301005
|
0.00002
|
NM_000329.3(RPE65):c.807T>C (p.Ser269=)
|
rs774896870
|
0.00002
|
NM_000440.3(PDE6A):c.2495C>T (p.Ser832Leu)
|
rs750503504
|
0.00002
|
NM_000440.3(PDE6A):c.481C>G (p.His161Asp)
|
rs758150381
|
0.00002
|
NM_000539.3(RHO):c.205C>T (p.Arg69Cys)
|
rs761101263
|
0.00002
|
NM_000541.5(SAG):c.*20C>T
|
rs756466617
|
0.00002
|
NM_000541.5(SAG):c.777C>T (p.Tyr259=)
|
rs766104513
|
0.00002
|
NM_000541.5(SAG):c.820C>T (p.Pro274Ser)
|
rs369789189
|
0.00002
|
NM_000541.5(SAG):c.875G>A (p.Arg292Gln)
|
rs554322769
|
0.00002
|
NM_000554.6(CRX):c.*2485C>T
|
rs564202140
|
0.00002
|
NM_000554.6(CRX):c.*2611G>A
|
rs1329072003
|
0.00002
|
NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp)
|
rs756992593
|
0.00002
|
NM_001012720.2(RGR):c.866G>A (p.Arg289Gln)
|
rs768395760
|
0.00002
|
NM_001029883.3(PCARE):c.*1259C>T
|
rs558252908
|
0.00002
|
NM_001029883.3(PCARE):c.1892C>T (p.Ala631Val)
|
rs369935946
|
0.00002
|
NM_001029883.3(PCARE):c.2197A>C (p.Lys733Gln)
|
rs746749375
|
0.00002
|
NM_001029883.3(PCARE):c.2257G>A (p.Ala753Thr)
|
rs371979312
|
0.00002
|
NM_001029883.3(PCARE):c.2991G>A (p.Thr997=)
|
rs528901190
|
0.00002
|
NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu)
|
rs756152942
|
0.00002
|
NM_001029883.3(PCARE):c.3669-5G>A
|
rs886055920
|
0.00002
|
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp)
|
rs201706430
|
0.00002
|
NM_001077620.3(PRCD):c.*1061C>T
|
rs552803584
|
0.00002
|
NM_001077620.3(PRCD):c.*1411G>A
|
rs773610638
|
0.00002
|
NM_001142800.2(EYS):c.1490T>C (p.Ile497Thr)
|
rs1417899816
|
0.00002
|
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)
|
rs765763663
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001142800.2(EYS):c.5484A>C (p.Lys1828Asn)
|
rs996239133
|
0.00002
|
NM_001142800.2(EYS):c.5903G>A (p.Gly1968Glu)
|
rs754069174
|
0.00002
|
NM_001142800.2(EYS):c.7898+12G>A
|
rs557020239
|
0.00002
|
NM_001142800.2(EYS):c.8861T>A (p.Phe2954Tyr)
|
rs755879622
|
0.00002
|
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
|
rs748838955
|
0.00002
|
NM_001201543.2(FAM161A):c.*1252A>G
|
rs1015093278
|
0.00002
|
NM_001201543.2(FAM161A):c.*1507G>C
|
rs886056213
|
0.00002
|
NM_001201543.2(FAM161A):c.1213G>A (p.Gly405Arg)
|
rs544107644
|
0.00002
|
NM_001201543.2(FAM161A):c.1583+11A>G
|
rs368458156
|
0.00002
|
NM_001201543.2(FAM161A):c.176G>A (p.Gly59Glu)
|
rs758153602
|
0.00002
|
NM_001242957.3(MAK):c.1144-8C>T
|
rs776541315
|
0.00002
|
NM_001278293.3(ARL6):c.266C>G (p.Ala89Gly)
|
rs587777805
|
0.00002
|
NM_001297.5(CNGB1):c.-25G>A
|
rs776035875
|
0.00002
|
NM_001297.5(CNGB1):c.545A>T (p.Asp182Val)
|
rs748928062
|
0.00002
|
NM_001354768.3(NRL):c.645C>T (p.Tyr215=)
|
rs936140196
|
0.00002
|
NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)
|
rs750954043
|
0.00002
|
NM_001379270.1(CNGA1):c.287+14C>A
|
rs777903781
|
0.00002
|
NM_002098.6(GUCA1B):c.*107C>T
|
rs991862449
|
0.00002
|
NM_002098.6(GUCA1B):c.*559T>C
|
rs1387756267
|
0.00002
|
NM_002602.4(PDE6G):c.175G>A (p.Gly59Ser)
|
rs372592115
|
0.00002
|
NM_002900.3(RBP3):c.1007T>C (p.Val336Ala)
|
rs782570418
|
0.00002
|
NM_002900.3(RBP3):c.1123G>A (p.Gly375Ser)
|
rs527458754
|
0.00002
|
NM_002900.3(RBP3):c.1351_1352insTCGTC (p.Ser451fs)
|
rs781889777
|
0.00002
|
NM_002900.3(RBP3):c.2481C>T (p.Pro827=)
|
rs782371726
|
0.00002
|
NM_002900.3(RBP3):c.2921G>A (p.Arg974Lys)
|
rs782423972
|
0.00002
|
NM_003322.6(TULP1):c.1112+8T>C
|
rs1286919081
|
0.00002
|
NM_003322.6(TULP1):c.1563G>A (p.Pro521=)
|
rs1031077618
|
0.00002
|
NM_003322.6(TULP1):c.559C>T (p.Pro187Ser)
|
rs748334290
|
0.00002
|
NM_003322.6(TULP1):c.682G>A (p.Glu228Lys)
|
rs1469121973
|
0.00002
|
NM_003322.6(TULP1):c.719G>A (p.Gly240Asp)
|
rs773120841
|
0.00002
|
NM_003322.6(TULP1):c.823-8G>A
|
rs372183095
|
0.00002
|
NM_003322.6(TULP1):c.85C>T (p.Arg29Trp)
|
rs148838796
|
0.00002
|
NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr)
|
rs765604572
|
0.00002
|
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys)
|
rs765333778
|
0.00002
|
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)
|
rs374517178
|
0.00002
|
NM_004183.4(BEST1):c.954C>G (p.Ser318=)
|
rs144231113
|
0.00002
|
NM_004744.5(LRAT):c.476A>G (p.Asn159Ser)
|
rs202066076
|
0.00002
|
NM_005802.5(TOPORS):c.*686T>C
|
rs192538022
|
0.00002
|
NM_005802.5(TOPORS):c.1353A>C (p.Thr451=)
|
rs1382029583
|
0.00002
|
NM_005802.5(TOPORS):c.1725C>T (p.Asn575=)
|
rs757674137
|
0.00002
|
NM_005802.5(TOPORS):c.1938A>C (p.Ser646=)
|
rs376719585
|
0.00002
|
NM_005802.5(TOPORS):c.2873A>T (p.Glu958Val)
|
rs757527959
|
0.00002
|
NM_006017.3(PROM1):c.1377C>T (p.Gly459=)
|
rs779072238
|
0.00002
|
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)
|
rs536622788
|
0.00002
|
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser)
|
rs372632641
|
0.00002
|
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)
|
rs747844753
|
0.00002
|
NM_006017.3(PROM1):c.792G>A (p.Lys264=)
|
rs776605111
|
0.00002
|
NM_006269.2(RP1):c.1439T>C (p.Ile480Thr)
|
rs753472746
|
0.00002
|
NM_006269.2(RP1):c.2825C>T (p.Thr942Met)
|
rs112323560
|
0.00002
|
NM_006269.2(RP1):c.6056G>A (p.Gly2019Asp)
|
rs750005747
|
0.00002
|
NM_006269.2(RP1):c.919T>C (p.Ser307Pro)
|
rs377130833
|
0.00002
|
NM_006343.3(MERTK):c.1691T>C (p.Leu564Ser)
|
rs200794038
|
0.00002
|
NM_006343.3(MERTK):c.21G>T (p.Pro7=)
|
rs752112582
|
0.00002
|
NM_006343.3(MERTK):c.2245T>G (p.Tyr749Asp)
|
rs541892026
|
0.00002
|
NM_006445.4(PRPF8):c.*36C>G
|
rs776962939
|
0.00002
|
NM_006445.4(PRPF8):c.-24G>A
|
rs886052619
|
0.00002
|
NM_006445.4(PRPF8):c.1311C>T (p.Ala437=)
|
rs747870802
|
0.00002
|
NM_006445.4(PRPF8):c.3009C>T (p.His1003=)
|
rs149785500
|
0.00002
|
NM_006445.4(PRPF8):c.6078C>T (p.Ile2026=)
|
rs374672916
|
0.00002
|
NM_006899.5(IDH3B):c.1082G>A (p.Arg361Gln)
|
rs145651330
|
0.00002
|
NM_006899.5(IDH3B):c.399-12G>T
|
rs781697514
|
0.00002
|
NM_006915.3(RP2):c.-26G>T
|
rs782652659
|
0.00002
|
NM_006915.3(RP2):c.-35A>G
|
rs909119773
|
0.00002
|
NM_006915.3(RP2):c.506A>G (p.Asn169Ser)
|
rs138024658
|
0.00002
|
NM_012469.4(PRPF6):c.193G>A (p.Ala65Thr)
|
rs771734100
|
0.00002
|
NM_014014.5(SNRNP200):c.*333G>A
|
rs886056455
|
0.00002
|
NM_014014.5(SNRNP200):c.*337G>A
|
rs886056454
|
0.00002
|
NM_014014.5(SNRNP200):c.5346G>A (p.Ser1782=)
|
rs756239767
|
0.00002
|
NM_014014.5(SNRNP200):c.5665G>A (p.Val1889Ile)
|
rs200367764
|
0.00002
|
NM_014014.5(SNRNP200):c.574+12C>T
|
rs761734438
|
0.00002
|
NM_014014.5(SNRNP200):c.6174+4C>T
|
rs774620973
|
0.00002
|
NM_014014.5(SNRNP200):c.93C>T (p.Thr31=)
|
rs886056468
|
0.00002
|
NM_014249.4(NR2E3):c.*546A>G
|
rs376195026
|
0.00002
|
NM_014249.4(NR2E3):c.572-13C>T
|
rs376114936
|
0.00002
|
NM_014336.5(AIPL1):c.414C>T (p.Asp138=)
|
rs565896898
|
0.00002
|
NM_015629.4(PRPF31):c.*9G>A
|
rs369008153
|
0.00002
|
NM_015629.4(PRPF31):c.107A>G (p.Gln36Arg)
|
rs781412138
|
0.00002
|
NM_015629.4(PRPF31):c.149C>T (p.Thr50Ile)
|
rs373578680
|
0.00002
|
NM_015629.4(PRPF31):c.855+12G>A
|
rs763372742
|
0.00002
|
NM_016247.4(IMPG2):c.*1600C>T
|
rs570822374
|
0.00002
|
NM_016247.4(IMPG2):c.*3773C>T
|
rs763292855
|
0.00002
|
NM_016247.4(IMPG2):c.3386C>G (p.Ala1129Gly)
|
rs781172642
|
0.00002
|
NM_016247.4(IMPG2):c.361T>C (p.Phe121Leu)
|
rs752379965
|
0.00002
|
NM_018191.4(RCBTB1):c.1202C>T (p.Ser401Leu)
|
rs556664001
|
0.00002
|
NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu)
|
rs750676893
|
0.00002
|
NM_021831.6(AGBL5):c.842G>A (p.Arg281His)
|
rs1448861312
|
0.00002
|
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys)
|
rs184614863
|
0.00002
|
NM_144499.3(GNAT1):c.107G>A (p.Gly36Asp)
|
rs772024349
|
0.00002
|
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)
|
rs200086953
|
0.00002
|
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val)
|
rs139195149
|
0.00002
|
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)
|
rs199571677
|
0.00002
|
NM_144596.4(TTC8):c.799-11C>T
|
rs768485587
|
0.00002
|
NM_152443.3(RDH12):c.*155C>T
|
rs886050643
|
0.00002
|
NM_177965.4(CFAP418):c.*406A>T
|
rs530747662
|
0.00002
|
NM_177965.4(CFAP418):c.*408G>A
|
rs561848397
|
0.00002
|
NM_201253.3(CRB1):c.2010T>C (p.Cys670=)
|
rs201949837
|
0.00002
|
NM_201253.3(CRB1):c.867G>A (p.Thr289=)
|
rs147244321
|
0.00002
|
NM_201548.5(CERKL):c.1543C>T (p.His515Tyr)
|
rs781416914
|
0.00002
|
NM_205861.3(DHDDS):c.*733T>C
|
rs1055171536
|
0.00002
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
0.00002
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
NM_206933.4(USH2A):c.3342C>T (p.Asp1114=)
|
rs755765979
|
0.00002
|
NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys)
|
rs753908845
|
0.00002
|
NM_206933.4(USH2A):c.4627+850C>T
|
rs906951959
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_000283.3(PDE6B):c.*692G>A
|
rs1444528398
|
0.00001
|
NM_000283.4(PDE6B):c.*187G>A
|
rs1014159767
|
0.00001
|
NM_000283.4(PDE6B):c.*215A>G
|
rs1040628827
|
0.00001
|
NM_000283.4(PDE6B):c.*279G>A
|
rs886059548
|
0.00001
|
NM_000283.4(PDE6B):c.*79A>G
|
rs753277194
|
0.00001
|
NM_000283.4(PDE6B):c.109G>A (p.Glu37Lys)
|
rs376908835
|
0.00001
|
NM_000283.4(PDE6B):c.1459G>A (p.Glu487Lys)
|
rs139369984
|
0.00001
|
NM_000283.4(PDE6B):c.1590C>T (p.Val530=)
|
rs202244041
|
0.00001
|
NM_000283.4(PDE6B):c.1945A>G (p.Asn649Asp)
|
rs768939011
|
0.00001
|
NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr)
|
rs779474710
|
0.00001
|
NM_000283.4(PDE6B):c.2091G>A (p.Glu697=)
|
rs886059545
|
0.00001
|
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)
|
rs749657417
|
0.00001
|
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg)
|
rs781658083
|
0.00001
|
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn)
|
rs574098823
|
0.00001
|
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)
|
rs780521818
|
0.00001
|
NM_000283.4(PDE6B):c.932T>C (p.Ile311Thr)
|
rs886059543
|
0.00001
|
NM_000322.5(PRPH2):c.*1000C>G
|
rs1367940496
|
0.00001
|
NM_000322.5(PRPH2):c.*1007C>A
|
rs886061400
|
0.00001
|
NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly)
|
rs1351857575
|
0.00001
|
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser)
|
rs140227298
|
0.00001
|
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu)
|
rs772861671
|
0.00001
|
NM_000322.5(PRPH2):c.852C>A (p.Arg284=)
|
rs745807357
|
0.00001
|
NM_000326.5(RLBP1):c.*212G>A
|
rs1281765664
|
0.00001
|
NM_000326.5(RLBP1):c.-104T>G
|
rs886051502
|
0.00001
|
NM_000326.5(RLBP1):c.353T>G (p.Val118Gly)
|
rs762121817
|
0.00001
|
NM_000326.5(RLBP1):c.626T>C (p.Met209Thr)
|
rs775355367
|
0.00001
|
NM_000326.5(RLBP1):c.684+6G>C
|
rs755347677
|
0.00001
|
NM_000326.5(RLBP1):c.701G>A (p.Arg234Gln)
|
rs150318794
|
0.00001
|
NM_000327.4(ROM1):c.*179A>C
|
rs886048441
|
0.00001
|
NM_000327.4(ROM1):c.1035G>A (p.Lys345=)
|
rs144650228
|
0.00001
|
NM_000327.4(ROM1):c.183C>A (p.Val61=)
|
rs886048440
|
0.00001
|
NM_000327.4(ROM1):c.667C>T (p.Arg223Trp)
|
rs1204988981
|
0.00001
|
NM_000327.4(ROM1):c.974A>C (p.Gln325Pro)
|
rs753460076
|
0.00001
|
NM_000329.3(RPE65):c.*546A>C
|
rs1462746486
|
0.00001
|
NM_000329.3(RPE65):c.*554C>T
|
rs1645802843
|
0.00001
|
NM_000329.3(RPE65):c.267C>T (p.Tyr89=)
|
rs372620785
|
0.00001
|
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)
|
rs1571170561
|
0.00001
|
NM_000329.3(RPE65):c.375A>G (p.Gly125=)
|
rs992113946
|
0.00001
|
NM_000329.3(RPE65):c.474G>C (p.Glu158Asp)
|
rs1645927491
|
0.00001
|
NM_000329.3(RPE65):c.576T>A (p.Ile192=)
|
rs747122876
|
0.00001
|
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln)
|
rs577193739
|
0.00001
|
NM_000329.3(RPE65):c.783G>T (p.Leu261=)
|
rs188493184
|
0.00001
|
NM_000329.3(RPE65):c.858+6T>C
|
rs764221382
|
0.00001
|
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe)
|
rs1261473838
|
0.00001
|
NM_000329.3(RPE65):c.975T>G (p.Ile325Met)
|
rs761227832
|
0.00001
|
NM_000350.3(ABCA4):c.2980A>G (p.Ile994Val)
|
rs546606452
|
0.00001
|
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)
|
rs1211325812
|
0.00001
|
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)
|
rs1188515677
|
0.00001
|
NM_000440.3(PDE6A):c.*814T>C
|
rs1458662327
|
0.00001
|
NM_000440.3(PDE6A):c.*938A>C
|
rs886060212
|
0.00001
|
NM_000440.3(PDE6A):c.1729-4C>T
|
rs555052906
|
0.00001
|
NM_000440.3(PDE6A):c.175G>A (p.Glu59Lys)
|
rs779392630
|
0.00001
|
NM_000440.3(PDE6A):c.2350G>A (p.Val784Ile)
|
rs746482403
|
0.00001
|
NM_000440.3(PDE6A):c.628-5T>G
|
rs757034771
|
0.00001
|
NM_000539.3(RHO):c.*1144C>T
|
rs886057977
|
0.00001
|
NM_000539.3(RHO):c.48G>A (p.Ala16=)
|
rs766112074
|
0.00001
|
NM_000539.3(RHO):c.62G>A (p.Arg21His)
|
rs552455660
|
0.00001
|
NM_000539.3(RHO):c.732G>A (p.Gln244=)
|
rs148222991
|
0.00001
|
NM_000539.3(RHO):c.754C>T (p.Arg252Cys)
|
rs752805805
|
0.00001
|
NM_000539.3(RHO):c.87C>T (p.Tyr29=)
|
rs149084537
|
0.00001
|
NM_000539.3(RHO):c.962T>A (p.Ile321Asn)
|
rs1316267671
|
0.00001
|
NM_000541.5(SAG):c.-11G>A
|
rs754551985
|
0.00001
|
NM_000541.5(SAG):c.-28-10A>G
|
rs1462642188
|
0.00001
|
NM_000541.5(SAG):c.208C>T (p.Arg70Cys)
|
rs777934036
|
0.00001
|
NM_000541.5(SAG):c.75+7G>T
|
rs753990994
|
0.00001
|
NM_000541.5(SAG):c.778G>A (p.Val260Ile)
|
rs1443433091
|
0.00001
|
NM_000554.6(CRX):c.*252C>T
|
rs886054549
|
0.00001
|
NM_000554.6(CRX):c.*2544G>A
|
rs1281739542
|
0.00001
|
NM_000554.6(CRX):c.*2785C>T
|
rs886054560
|
0.00001
|
NM_000554.6(CRX):c.*79C>T
|
rs769100863
|
0.00001
|
NM_000554.6(CRX):c.*908G>A
|
rs886054554
|
0.00001
|
NM_000554.6(CRX):c.205C>T (p.Arg69Cys)
|
rs771551785
|
0.00001
|
NM_000554.6(CRX):c.78G>A (p.Met26Ile)
|
rs886054544
|
0.00001
|
NM_000717.5(CA4):c.162C>G (p.Ile54Met)
|
rs778411450
|
0.00001
|
NM_000717.5(CA4):c.288C>T (p.Asn96=)
|
rs749532892
|
0.00001
|
NM_000883.4(IMPDH1):c.*258C>T
|
rs886061981
|
0.00001
|
NM_000883.4(IMPDH1):c.*631C>T
|
rs760544024
|
0.00001
|
NM_000883.4(IMPDH1):c.*694C>A
|
rs1179467429
|
0.00001
|
NM_000883.4(IMPDH1):c.*722C>T
|
rs886061980
|
0.00001
|
NM_000883.4(IMPDH1):c.-13C>T
|
rs1373186956
|
0.00001
|
NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile)
|
rs564132747
|
0.00001
|
NM_000883.4(IMPDH1):c.255-10C>T
|
rs1478038443
|
0.00001
|
NM_001012720.2(RGR):c.*484T>C
|
rs886047353
|
0.00001
|
NM_001012720.2(RGR):c.*89C>T
|
rs1182311979
|
0.00001
|
NM_001012720.2(RGR):c.512+8G>A
|
rs777466420
|
0.00001
|
NM_001017979.3(RAB28):c.55G>A (p.Gly19Arg)
|
rs1312475876
|
0.00001
|
NM_001029883.3(PCARE):c.*1278C>A
|
rs886055915
|
0.00001
|
NM_001029883.3(PCARE):c.*1296T>G
|
rs537457852
|
0.00001
|
NM_001029883.3(PCARE):c.*227T>C
|
rs536483762
|
0.00001
|
NM_001029883.3(PCARE):c.*2383G>A
|
rs553420408
|
0.00001
|
NM_001029883.3(PCARE):c.*2546G>A
|
rs1211787095
|
0.00001
|
NM_001029883.3(PCARE):c.*3008G>T
|
rs766320812
|
0.00001
|
NM_001029883.3(PCARE):c.*599G>A
|
rs886055918
|
0.00001
|
NM_001029883.3(PCARE):c.1500G>A (p.Met500Ile)
|
rs886055924
|
0.00001
|
NM_001029883.3(PCARE):c.1604T>C (p.Leu535Pro)
|
rs886055923
|
0.00001
|
NM_001029883.3(PCARE):c.2175T>A (p.Cys725Ter)
|
rs1187627005
|
0.00001
|
NM_001029883.3(PCARE):c.2539G>C (p.Glu847Gln)
|
rs541757069
|
0.00001
|
NM_001029883.3(PCARE):c.2707C>A (p.Pro903Thr)
|
rs771188017
|
0.00001
|
NM_001029883.3(PCARE):c.2874C>T (p.Ile958=)
|
rs748746281
|
0.00001
|
NM_001029883.3(PCARE):c.3269C>T (p.Ser1090Leu)
|
rs761290140
|
0.00001
|
NM_001029883.3(PCARE):c.3307A>G (p.Arg1103Gly)
|
rs375443061
|
0.00001
|
NM_001029883.3(PCARE):c.3626A>G (p.Asp1209Gly)
|
rs572724183
|
0.00001
|
NM_001029883.3(PCARE):c.3816C>A (p.Ile1272=)
|
rs749808562
|
0.00001
|
NM_001029883.3(PCARE):c.655G>A (p.Val219Ile)
|
rs1667535059
|
0.00001
|
NM_001031710.2(KLHL7):c.-271C>T
|
rs886062215
|
0.00001
|
NM_001031710.3(KLHL7):c.*392G>T
|
rs1230711606
|
0.00001
|
NM_001031710.3(KLHL7):c.*809C>G
|
rs1314740850
|
0.00001
|
NM_001031710.3(KLHL7):c.*913T>C
|
rs886062220
|
0.00001
|
NM_001031710.3(KLHL7):c.1092G>A (p.Ser364=)
|
rs770570364
|
0.00001
|
NM_001031710.3(KLHL7):c.126G>A (p.Thr42=)
|
rs150640353
|
0.00001
|
NM_001031710.3(KLHL7):c.1378A>G (p.Thr460Ala)
|
rs761755398
|
0.00001
|
NM_001031710.3(KLHL7):c.1597T>C (p.Leu533=)
|
rs144156217
|
0.00001
|
NM_001031710.3(KLHL7):c.318-7T>C
|
rs886062217
|
0.00001
|
NM_001031710.3(KLHL7):c.416A>G (p.Glu139Gly)
|
rs369829959
|
0.00001
|
NM_001031710.3(KLHL7):c.618+10T>C
|
rs1248148456
|
0.00001
|
NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu)
|
rs386833706
|
0.00001
|
NM_001077620.3(PRCD):c.*1509G>A
|
rs777248455
|
0.00001
|
NM_001077620.3(PRCD):c.*413A>G
|
rs775233504
|
0.00001
|
NM_001077620.3(PRCD):c.*605G>A
|
rs886053477
|
0.00001
|
NM_001077620.3(PRCD):c.*764C>T
|
rs886053479
|
0.00001
|
NM_001142800.2(EYS):c.-277C>G
|
rs1379087184
|
0.00001
|
NM_001142800.2(EYS):c.-495T>C
|
rs886061688
|
0.00001
|
NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp)
|
rs80095433
|
0.00001
|
NM_001142800.2(EYS):c.1811A>G (p.Asn604Ser)
|
rs1274107268
|
0.00001
|
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu)
|
rs548565748
|
0.00001
|
NM_001142800.2(EYS):c.2287T>C (p.Trp763Arg)
|
rs886061684
|
0.00001
|
NM_001142800.2(EYS):c.2641+8C>A
|
rs886061683
|
0.00001
|
NM_001142800.2(EYS):c.3972C>T (p.Leu1324=)
|
rs202130794
|
0.00001
|
NM_001142800.2(EYS):c.4052T>G (p.Leu1351Arg)
|
rs759027016
|
0.00001
|
NM_001142800.2(EYS):c.4099T>C (p.Ser1367Pro)
|
rs1285964857
|
0.00001
|
NM_001142800.2(EYS):c.4440A>G (p.Arg1480=)
|
rs886061675
|
0.00001
|
NM_001142800.2(EYS):c.487C>T (p.Leu163Phe)
|
rs144074328
|
0.00001
|
NM_001142800.2(EYS):c.5618T>G (p.Leu1873Arg)
|
rs750613634
|
0.00001
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
0.00001
|
NM_001142800.2(EYS):c.5644+7T>G
|
rs539437238
|
0.00001
|
NM_001142800.2(EYS):c.5755C>T (p.Leu1919Phe)
|
rs1275377315
|
0.00001
|
NM_001142800.2(EYS):c.583A>C (p.Ser195Arg)
|
rs753945993
|
0.00001
|
NM_001142800.2(EYS):c.592T>A (p.Tyr198Asn)
|
rs886061686
|
0.00001
|
NM_001142800.2(EYS):c.5935T>C (p.Leu1979=)
|
rs962496239
|
0.00001
|
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)
|
rs559078881
|
0.00001
|
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp)
|
rs886061672
|
0.00001
|
NM_001142800.2(EYS):c.6724C>T (p.Arg2242Cys)
|
rs990350691
|
0.00001
|
NM_001142800.2(EYS):c.6725+9T>C
|
rs886061671
|
0.00001
|
NM_001142800.2(EYS):c.6967G>A (p.Asp2323Asn)
|
rs747666847
|
0.00001
|
NM_001142800.2(EYS):c.7133A>G (p.Asn2378Ser)
|
rs1477495174
|
0.00001
|
NM_001142800.2(EYS):c.7261A>C (p.Thr2421Pro)
|
rs886061669
|
0.00001
|
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)
|
rs559824825
|
0.00001
|
NM_001142800.2(EYS):c.812G>A (p.Ser271Asn)
|
rs1390616909
|
0.00001
|
NM_001142800.2(EYS):c.8233+8T>G
|
rs886061666
|
0.00001
|
NM_001142800.2(EYS):c.8468T>C (p.Ile2823Thr)
|
rs149686954
|
0.00001
|
NM_001142800.2(EYS):c.867A>G (p.Pro289=)
|
rs746039939
|
0.00001
|
NM_001201543.2(FAM161A):c.*68G>A
|
rs765002648
|
0.00001
|
NM_001201543.2(FAM161A):c.1018A>G (p.Lys340Glu)
|
rs569307291
|
0.00001
|
NM_001201543.2(FAM161A):c.1328C>T (p.Ser443Leu)
|
rs189711603
|
0.00001
|
NM_001201543.2(FAM161A):c.1462T>G (p.Trp488Gly)
|
rs767214705
|
0.00001
|
NM_001201543.2(FAM161A):c.161T>A (p.Val54Glu)
|
rs755697413
|
0.00001
|
NM_001201543.2(FAM161A):c.2016A>C (p.Glu672Asp)
|
rs368402244
|
0.00001
|
NM_001201543.2(FAM161A):c.746A>G (p.Gln249Arg)
|
rs192864749
|
0.00001
|
NM_001242957.3(MAK):c.1317-12T>C
|
rs756170824
|
0.00001
|
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)
|
rs186643840
|
0.00001
|
NM_001256789.3(CACNA1F):c.3846C>T (p.Thr1282=)
|
rs782121738
|
0.00001
|
NM_001278293.3(ARL6):c.*309T>C
|
rs2038100273
|
0.00001
|
NM_001278293.3(ARL6):c.-146T>C
|
rs886058937
|
0.00001
|
NM_001278293.3(ARL6):c.306G>A (p.Met102Ile)
|
rs763779778
|
0.00001
|
NM_001297.5(CNGB1):c.*1741T>C
|
rs1236550821
|
0.00001
|
NM_001297.5(CNGB1):c.*1810T>G
|
rs1219818645
|
0.00001
|
NM_001297.5(CNGB1):c.*882G>A
|
rs886052188
|
0.00001
|
NM_001297.5(CNGB1):c.151G>A (p.Glu51Lys)
|
rs1489659962
|
0.00001
|
NM_001297.5(CNGB1):c.158T>C (p.Met53Thr)
|
rs764636892
|
0.00001
|
NM_001297.5(CNGB1):c.1685C>T (p.Ala562Val)
|
rs1213983177
|
0.00001
|
NM_001297.5(CNGB1):c.1863G>A (p.Val621=)
|
rs753172645
|
0.00001
|
NM_001297.5(CNGB1):c.1957+6T>C
|
rs1357196940
|
0.00001
|
NM_001297.5(CNGB1):c.2091A>G (p.Leu697=)
|
rs767102177
|
0.00001
|
NM_001297.5(CNGB1):c.2104T>A (p.Tyr702Asn)
|
rs778003375
|
0.00001
|
NM_001297.5(CNGB1):c.2154C>T (p.Gly718=)
|
rs541698458
|
0.00001
|
NM_001297.5(CNGB1):c.2167-12C>T
|
rs772769638
|
0.00001
|
NM_001297.5(CNGB1):c.21G>C (p.Arg7Ser)
|
rs763447996
|
0.00001
|
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)
|
rs760373259
|
0.00001
|
NM_001297.5(CNGB1):c.2594A>C (p.Tyr865Ser)
|
rs376025801
|
0.00001
|
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp)
|
rs770961534
|
0.00001
|
NM_001297.5(CNGB1):c.2844C>T (p.Leu948=)
|
rs376791249
|
0.00001
|
NM_001297.5(CNGB1):c.3242+9C>A
|
rs371348182
|
0.00001
|
NM_001297.5(CNGB1):c.3496G>A (p.Gly1166Ser)
|
rs769142173
|
0.00001
|
NM_001297.5(CNGB1):c.358A>C (p.Ser120Arg)
|
rs375397174
|
0.00001
|
NM_001297.5(CNGB1):c.3590C>A (p.Pro1197Gln)
|
rs749978261
|
0.00001
|
NM_001297.5(CNGB1):c.585G>A (p.Ala195=)
|
rs530319460
|
0.00001
|
NM_001297.5(CNGB1):c.713G>A (p.Gly238Asp)
|
rs201703193
|
0.00001
|
NM_001297.5(CNGB1):c.873C>A (p.Thr291=)
|
rs181481207
|
0.00001
|
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter)
|
rs372504780
|
0.00001
|
NM_001354768.3(NRL):c.-27-2A>G
|
rs771932471
|
0.00001
|
NM_001354768.3(NRL):c.16del (p.Ser6fs)
|
rs759747780
|
0.00001
|
NM_001354768.3(NRL):c.713G>T (p.Ter238Leu)
|
rs754136527
|
0.00001
|
NM_001379270.1(CNGA1):c.*35C>T
|
rs757494572
|
0.00001
|
NM_001379270.1(CNGA1):c.*53A>G
|
rs1257715115
|
0.00001
|
NM_001379270.1(CNGA1):c.-122-10A>T
|
rs886059424
|
0.00001
|
NM_001379270.1(CNGA1):c.1298G>T (p.Trp433Leu)
|
rs762935052
|
0.00001
|
NM_001379270.1(CNGA1):c.1391A>G (p.Asn464Ser)
|
rs749947364
|
0.00001
|
NM_001379270.1(CNGA1):c.220C>T (p.Gln74Ter)
|
rs1490804242
|
0.00001
|
NM_001379270.1(CNGA1):c.641G>A (p.Arg214Gln)
|
rs776929323
|
0.00001
|
NM_001379270.1(CNGA1):c.642A>G (p.Arg214=)
|
rs752257711
|
0.00001
|
NM_001386393.1(PANK2):c.938G>T (p.Cys313Phe)
|
rs779815683
|
0.00001
|
NM_001387564.1(SMIM27):c.-4T>C
|
rs2040734643
|
0.00001
|
NM_001387564.1(SMIM27):c.45+21G>A
|
rs776476617
|
0.00001
|
NM_002032.3(FTH1):c.*336A>G
|
rs1158112939
|
0.00001
|
NM_002098.6(GUCA1B):c.*445G>A
|
rs1291842196
|
0.00001
|
NM_002098.6(GUCA1B):c.*461C>T
|
rs1158441932
|
0.00001
|
NM_002098.6(GUCA1B):c.*767A>T
|
rs886061393
|
0.00001
|
NM_002098.6(GUCA1B):c.111C>A (p.Leu37=)
|
rs117959899
|
0.00001
|
NM_002098.6(GUCA1B):c.387G>A (p.Arg129=)
|
rs527241870
|
0.00001
|
NM_002098.6(GUCA1B):c.516G>A (p.Arg172=)
|
rs752988497
|
0.00001
|
NM_002602.4(PDE6G):c.*207G>A
|
rs926665391
|
0.00001
|
NM_002602.4(PDE6G):c.-100A>G
|
rs761456753
|
0.00001
|
NM_002900.3(RBP3):c.1008C>T (p.Val336=)
|
rs782299182
|
0.00001
|
NM_002900.3(RBP3):c.1044C>T (p.Pro348=)
|
rs547601457
|
0.00001
|
NM_002900.3(RBP3):c.1135G>A (p.Ala379Thr)
|
rs781840247
|
0.00001
|
NM_002900.3(RBP3):c.1146T>G (p.Asp382Glu)
|
rs782731785
|
0.00001
|
NM_002900.3(RBP3):c.1294G>C (p.Val432Leu)
|
rs1555211188
|
0.00001
|
NM_002900.3(RBP3):c.1323C>T (p.Tyr441=)
|
rs782282118
|
0.00001
|
NM_002900.3(RBP3):c.1399C>T (p.Pro467Ser)
|
rs782195686
|
0.00001
|
NM_002900.3(RBP3):c.2121G>A (p.Glu707=)
|
rs886047017
|
0.00001
|
NM_002900.3(RBP3):c.2789T>C (p.Ile930Thr)
|
rs370922435
|
0.00001
|
NM_002900.3(RBP3):c.787G>T (p.Ala263Ser)
|
rs77257977
|
0.00001
|
NM_002900.3(RBP3):c.934G>A (p.Ala312Thr)
|
rs1020582345
|
0.00001
|
NM_003322.6(TULP1):c.1345C>T (p.Arg449Cys)
|
rs1480273410
|
0.00001
|
NM_003322.6(TULP1):c.1569C>T (p.Cys523=)
|
rs768536269
|
0.00001
|
NM_003322.6(TULP1):c.1597T>C (p.Ser533Pro)
|
rs769287941
|
0.00001
|
NM_003322.6(TULP1):c.192T>C (p.Ala64=)
|
rs886061337
|
0.00001
|
NM_003322.6(TULP1):c.254A>G (p.Gln85Arg)
|
rs754040672
|
0.00001
|
NM_003322.6(TULP1):c.904G>A (p.Gly302Ser)
|
rs765321084
|
0.00001
|
NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys)
|
rs779855350
|
0.00001
|
NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu)
|
rs886048428
|
0.00001
|
NM_004183.4(BEST1):c.152+6G>T
|
rs764420497
|
0.00001
|
NM_004183.4(BEST1):c.699A>G (p.Pro233=)
|
rs760816505
|
0.00001
|
NM_004183.4(BEST1):c.813C>T (p.Leu271=)
|
rs370397270
|
0.00001
|
NM_004183.4(BEST1):c.822C>T (p.Pro274=)
|
rs759678509
|
0.00001
|
NM_004698.4(PRPF3):c.1042C>T (p.Leu348=)
|
rs1489740997
|
0.00001
|
NM_004698.4(PRPF3):c.1317T>C (p.Tyr439=)
|
rs782312050
|
0.00001
|
NM_004698.4(PRPF3):c.1334A>G (p.Gln445Arg)
|
rs373571735
|
0.00001
|
NM_004698.4(PRPF3):c.786G>A (p.Gly262=)
|
rs782088671
|
0.00001
|
NM_004744.5(LRAT):c.*3509C>A
|
rs1243976906
|
0.00001
|
NM_004744.5(LRAT):c.*624T>C
|
rs1732952951
|
0.00001
|
NM_004744.5(LRAT):c.*671A>G
|
rs886059167
|
0.00001
|
NM_004744.5(LRAT):c.*826C>T
|
rs778612442
|
0.00001
|
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys)
|
rs775838916
|
0.00001
|
NM_004744.5(LRAT):c.244A>G (p.Thr82Ala)
|
rs747900628
|
0.00001
|
NM_004744.5(LRAT):c.519G>T (p.Pro173=)
|
rs375365480
|
0.00001
|
NM_005802.5(TOPORS):c.*24A>G
|
rs191337644
|
0.00001
|
NM_005802.5(TOPORS):c.1170A>T (p.Ser390=)
|
rs763061457
|
0.00001
|
NM_005802.5(TOPORS):c.1426G>C (p.Asp476His)
|
rs886063854
|
0.00001
|
NM_005802.5(TOPORS):c.1788A>C (p.Arg596Ser)
|
rs886063853
|
0.00001
|
NM_005802.5(TOPORS):c.1793G>C (p.Arg598Thr)
|
rs749210641
|
0.00001
|
NM_005802.5(TOPORS):c.2010A>C (p.Ser670=)
|
rs762871906
|
0.00001
|
NM_005802.5(TOPORS):c.2024G>A (p.Ser675Asn)
|
rs111359713
|
0.00001
|
NM_005802.5(TOPORS):c.2967A>G (p.Ala989=)
|
rs761500932
|
0.00001
|
NM_005802.5(TOPORS):c.568G>A (p.Ala190Thr)
|
rs1305316061
|
0.00001
|
NM_005802.5(TOPORS):c.829C>T (p.Arg277Cys)
|
rs770446904
|
0.00001
|
NM_006017.3(PROM1):c.*198T>C
|
rs1713762475
|
0.00001
|
NM_006017.3(PROM1):c.*681C>G
|
rs947805890
|
0.00001
|
NM_006017.3(PROM1):c.*781G>A
|
rs1713636052
|
0.00001
|
NM_006017.3(PROM1):c.*963A>G
|
rs886059196
|
0.00001
|
NM_006017.3(PROM1):c.*985C>G
|
rs937617123
|
0.00001
|
NM_006017.3(PROM1):c.-148G>A
|
rs75531222
|
0.00001
|
NM_006017.3(PROM1):c.1002+5G>A
|
rs1196489060
|
0.00001
|
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His)
|
rs1297490531
|
0.00001
|
NM_006017.3(PROM1):c.1578+9G>C
|
rs747638667
|
0.00001
|
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)
|
rs201644238
|
0.00001
|
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe)
|
rs886059201
|
0.00001
|
NM_006017.3(PROM1):c.1738A>C (p.Asn580His)
|
rs199674847
|
0.00001
|
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)
|
rs1302809734
|
0.00001
|
NM_006017.3(PROM1):c.2309C>A (p.Pro770His)
|
rs568361529
|
0.00001
|
NM_006017.3(PROM1):c.2397A>G (p.Gly799=)
|
rs931618095
|
0.00001
|
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)
|
rs201910962
|
0.00001
|
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)
|
rs376198840
|
0.00001
|
NM_006017.3(PROM1):c.706G>A (p.Val236Met)
|
rs536161084
|
0.00001
|
NM_006269.2(RP1):c.*75C>T
|
rs1439625423
|
0.00001
|
NM_006269.2(RP1):c.-101G>A
|
rs867287513
|
0.00001
|
NM_006269.2(RP1):c.314T>C (p.Leu105Pro)
|
rs760751066
|
0.00001
|
NM_006269.2(RP1):c.3456G>A (p.Lys1152=)
|
rs886062992
|
0.00001
|
NM_006269.2(RP1):c.3968A>G (p.Tyr1323Cys)
|
rs754606635
|
0.00001
|
NM_006269.2(RP1):c.4393T>C (p.Leu1465=)
|
rs769786870
|
0.00001
|
NM_006269.2(RP1):c.4536G>C (p.Lys1512Asn)
|
rs752606944
|
0.00001
|
NM_006269.2(RP1):c.4742A>T (p.Lys1581Ile)
|
rs766323335
|
0.00001
|
NM_006269.2(RP1):c.74G>A (p.Arg25His)
|
rs886062989
|
0.00001
|
NM_006343.3(MERTK):c.*112G>A
|
rs750580480
|
0.00001
|
NM_006343.3(MERTK):c.1620G>A (p.Glu540=)
|
rs1381595159
|
0.00001
|
NM_006343.3(MERTK):c.1669C>T (p.Arg557Trp)
|
rs867486301
|
0.00001
|
NM_006343.3(MERTK):c.1783dup (p.Glu595fs)
|
rs1337364058
|
0.00001
|
NM_006343.3(MERTK):c.2202C>T (p.Asp734=)
|
rs1323896467
|
0.00001
|
NM_006343.3(MERTK):c.2273G>A (p.Arg758His)
|
rs370526555
|
0.00001
|
NM_006343.3(MERTK):c.2551A>C (p.Arg851=)
|
rs769304424
|
0.00001
|
NM_006343.3(MERTK):c.583+8C>T
|
rs762862240
|
0.00001
|
NM_006343.3(MERTK):c.996C>G (p.Val332=)
|
rs886054757
|
0.00001
|
NM_006445.4(PRPF8):c.*72C>A
|
rs758889910
|
0.00001
|
NM_006445.4(PRPF8):c.-30T>C
|
rs886052620
|
0.00001
|
NM_006445.4(PRPF8):c.-62G>T
|
rs886052622
|
0.00001
|
NM_006445.4(PRPF8):c.-74C>T
|
rs886052623
|
0.00001
|
NM_006445.4(PRPF8):c.1263C>T (p.Ala421=)
|
rs886052615
|
0.00001
|
NM_006445.4(PRPF8):c.1401A>G (p.Gln467=)
|
rs751438136
|
0.00001
|
NM_006445.4(PRPF8):c.1719+4A>G
|
rs774567975
|
0.00001
|
NM_006445.4(PRPF8):c.3305C>A (p.Thr1102Lys)
|
rs776540872
|
0.00001
|
NM_006445.4(PRPF8):c.360C>T (p.Tyr120=)
|
rs764798990
|
0.00001
|
NM_006445.4(PRPF8):c.3699C>T (p.Asp1233=)
|
rs753683243
|
0.00001
|
NM_006445.4(PRPF8):c.6120G>A (p.Thr2040=)
|
rs761118301
|
0.00001
|
NM_006445.4(PRPF8):c.6584C>G (p.Thr2195Ser)
|
rs377037603
|
0.00001
|
NM_006445.4(PRPF8):c.6801C>T (p.Phe2267=)
|
rs755962697
|
0.00001
|
NM_006899.5(IDH3B):c.*212A>G
|
rs886056567
|
0.00001
|
NM_006899.5(IDH3B):c.1145C>G (p.Thr382Ser)
|
rs764873315
|
0.00001
|
NM_006899.5(IDH3B):c.160C>G (p.Leu54Val)
|
rs767152068
|
0.00001
|
NM_006899.5(IDH3B):c.161T>C (p.Leu54Pro)
|
rs886056572
|
0.00001
|
NM_006899.5(IDH3B):c.338-10G>T
|
rs754403242
|
0.00001
|
NM_006899.5(IDH3B):c.66A>G (p.Ala22=)
|
rs886056573
|
0.00001
|
NM_006915.3(RP2):c.*141T>A
|
rs1475574241
|
0.00001
|
NM_006915.3(RP2):c.11T>G (p.Phe4Cys)
|
rs782190396
|
0.00001
|
NM_006915.3(RP2):c.420C>T (p.Ser140=)
|
rs781830738
|
0.00001
|
NM_006915.3(RP2):c.496A>G (p.Ile166Val)
|
rs782510902
|
0.00001
|
NM_006915.3(RP2):c.514A>G (p.Ser172Gly)
|
rs782217142
|
0.00001
|
NM_006915.3(RP2):c.845G>A (p.Arg282Gln)
|
rs1556319897
|
0.00001
|
NM_012469.4(PRPF6):c.-86C>T
|
rs886056958
|
0.00001
|
NM_012469.4(PRPF6):c.1103A>G (p.His368Arg)
|
rs886056960
|
0.00001
|
NM_012469.4(PRPF6):c.2077G>T (p.Ala693Ser)
|
rs1464814132
|
0.00001
|
NM_012469.4(PRPF6):c.2107C>T (p.Arg703Trp)
|
rs754149863
|
0.00001
|
NM_012469.4(PRPF6):c.2756T>C (p.Ile919Thr)
|
rs773239629
|
0.00001
|
NM_012469.4(PRPF6):c.282C>T (p.Tyr94=)
|
rs758722968
|
0.00001
|
NM_012469.4(PRPF6):c.439-4C>T
|
rs371780214
|
0.00001
|
NM_014014.5(SNRNP200):c.*209T>C
|
rs886056456
|
0.00001
|
NM_014014.5(SNRNP200):c.-27G>A
|
rs886056469
|
0.00001
|
NM_014014.5(SNRNP200):c.1148G>A (p.Arg383His)
|
rs536493402
|
0.00001
|
NM_014014.5(SNRNP200):c.1996C>T (p.Arg666Cys)
|
rs200546584
|
0.00001
|
NM_014014.5(SNRNP200):c.2268A>G (p.Ser756=)
|
rs370694903
|
0.00001
|
NM_014014.5(SNRNP200):c.2542G>A (p.Asp848Asn)
|
rs757811344
|
0.00001
|
NM_014014.5(SNRNP200):c.3744C>T (p.Asp1248=)
|
rs750593383
|
0.00001
|
NM_014014.5(SNRNP200):c.5336G>A (p.Arg1779His)
|
rs749546665
|
0.00001
|
NM_014014.5(SNRNP200):c.6025C>T (p.Arg2009Cys)
|
rs745836206
|
0.00001
|
NM_014014.5(SNRNP200):c.6092+3G>A
|
rs751502439
|
0.00001
|
NM_014014.5(SNRNP200):c.6291A>G (p.Pro2097=)
|
rs886056457
|
0.00001
|
NM_014014.5(SNRNP200):c.781C>A (p.Arg261=)
|
rs746654808
|
0.00001
|
NM_014249.4(NR2E3):c.*101T>C
|
rs886051453
|
0.00001
|
NM_014249.4(NR2E3):c.*275A>C
|
rs886051455
|
0.00001
|
NM_014249.4(NR2E3):c.*489A>G
|
rs969891330
|
0.00001
|
NM_014249.4(NR2E3):c.143G>A (p.Arg48His)
|
rs372156526
|
0.00001
|
NM_014249.4(NR2E3):c.332C>T (p.Ala111Val)
|
rs759381786
|
0.00001
|
NM_014249.4(NR2E3):c.349+15G>A
|
rs1157654626
|
0.00001
|
NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr)
|
rs779518180
|
0.00001
|
NM_014336.5(AIPL1):c.*1455G>T
|
rs886053257
|
0.00001
|
NM_014336.5(AIPL1):c.33G>C (p.Gly11=)
|
rs369223841
|
0.00001
|
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met)
|
rs144579083
|
0.00001
|
NM_014336.5(AIPL1):c.389A>G (p.His130Arg)
|
rs750182458
|
0.00001
|
NM_014336.5(AIPL1):c.639C>T (p.Thr213=)
|
rs371485219
|
0.00001
|
NM_014336.5(AIPL1):c.785G>T (p.Gly262Val)
|
rs201428885
|
0.00001
|
NM_014336.5(AIPL1):c.939G>A (p.Ala313=)
|
rs200401166
|
0.00001
|
NM_014748.4(SNX17):c.*572A>T
|
rs916987949
|
0.00001
|
NM_015629.4(PRPF31):c.421-9C>T
|
rs201443830
|
0.00001
|
NM_015629.4(PRPF31):c.504C>T (p.Ser168=)
|
rs1281473715
|
0.00001
|
NM_015629.4(PRPF31):c.921T>C (p.Ser307=)
|
rs368242197
|
0.00001
|
NM_015629.4(PRPF31):c.976C>T (p.Arg326Cys)
|
rs1180860515
|
0.00001
|
NM_015662.3(IFT172):c.3886G>A (p.Val1296Met)
|
rs757728167
|
0.00001
|
NM_016247.4(IMPG2):c.*1599G>A
|
rs534752065
|
0.00001
|
NM_016247.4(IMPG2):c.*1735C>T
|
rs1706207587
|
0.00001
|
NM_016247.4(IMPG2):c.*2329T>C
|
rs1207513458
|
0.00001
|
NM_016247.4(IMPG2):c.*3824C>T
|
rs561273259
|
0.00001
|
NM_016247.4(IMPG2):c.*868C>T
|
rs1201916028
|
0.00001
|
NM_016247.4(IMPG2):c.1219G>T (p.Ala407Ser)
|
rs199986912
|
0.00001
|
NM_016247.4(IMPG2):c.1298C>T (p.Pro433Leu)
|
rs1243396074
|
0.00001
|
NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala)
|
rs76048775
|
0.00001
|
NM_016247.4(IMPG2):c.2800T>C (p.Leu934=)
|
rs764443272
|
0.00001
|
NM_016247.4(IMPG2):c.2802+8T>C
|
rs886057687
|
0.00001
|
NM_016247.4(IMPG2):c.2847A>G (p.Leu949=)
|
rs371471872
|
0.00001
|
NM_016247.4(IMPG2):c.3355A>G (p.Ile1119Val)
|
rs886057686
|
0.00001
|
NM_016247.4(IMPG2):c.3703G>C (p.Glu1235Gln)
|
rs750183083
|
0.00001
|
NM_016247.4(IMPG2):c.887+10C>T
|
rs767130055
|
0.00001
|
NM_018418.5(SPATA7):c.1428G>A (p.Ser476=)
|
rs140192398
|
0.00001
|
NM_018418.5(SPATA7):c.1679A>C (p.Asn560Thr)
|
rs886050874
|
0.00001
|
NM_018418.5(SPATA7):c.19+7G>A
|
rs199560035
|
0.00001
|
NM_018418.5(SPATA7):c.372+11A>G
|
rs757636745
|
0.00001
|
NM_018418.5(SPATA7):c.429T>G (p.Phe143Leu)
|
rs1469531734
|
0.00001
|
NM_018418.5(SPATA7):c.716C>T (p.Pro239Leu)
|
rs760214171
|
0.00001
|
NM_018418.5(SPATA7):c.890A>T (p.Asp297Val)
|
rs769211713
|
0.00001
|
NM_021831.6(AGBL5):c.971C>T (p.Pro324Leu)
|
rs766193452
|
0.00001
|
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)
|
rs560251790
|
0.00001
|
NM_022367.4(SEMA4A):c.*570A>C
|
rs886045370
|
0.00001
|
NM_022367.4(SEMA4A):c.2106C>T (p.Leu702=)
|
rs772147085
|
0.00001
|
NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp)
|
rs762468169
|
0.00001
|
NM_024649.5(BBS1):c.592-21A>T
|
rs754794374
|
0.00001
|
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)
|
rs761760689
|
0.00001
|
NM_024887.3(DHDDS):c.-143C>T
|
rs1011390170
|
0.00001
|
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met)
|
rs774079924
|
0.00001
|
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr)
|
rs761010723
|
0.00001
|
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val)
|
rs778689889
|
0.00001
|
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro)
|
rs774806370
|
0.00001
|
NM_144596.4(TTC8):c.275C>T (p.Thr92Met)
|
rs886050877
|
0.00001
|
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr)
|
rs1295139564
|
0.00001
|
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala)
|
rs1220094479
|
0.00001
|
NM_144631.6(ZNF513):c.-125G>T
|
rs886055909
|
0.00001
|
NM_144631.6(ZNF513):c.-188G>A
|
rs1298142054
|
0.00001
|
NM_144631.6(ZNF513):c.219T>C (p.Ser73=)
|
rs148351779
|
0.00001
|
NM_144631.6(ZNF513):c.780G>A (p.Ala260=)
|
rs554115332
|
0.00001
|
NM_144631.6(ZNF513):c.900C>T (p.Cys300=)
|
rs367962941
|
0.00001
|
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met)
|
rs561701894
|
0.00001
|
NM_152443.3(RDH12):c.283C>T (p.Arg95Trp)
|
rs552516182
|
0.00001
|
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe)
|
rs777424197
|
0.00001
|
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)
|
rs771456483
|
0.00001
|
NM_177965.4(CFAP418):c.*1057C>T
|
rs151180356
|
0.00001
|
NM_177965.4(CFAP418):c.*2129A>G
|
rs897834152
|
0.00001
|
NM_201253.3(CRB1):c.*158G>T
|
rs886045789
|
0.00001
|
NM_201253.3(CRB1):c.*171C>G
|
rs1036503792
|
0.00001
|
NM_201253.3(CRB1):c.-55C>T
|
rs965921500
|
0.00001
|
NM_201253.3(CRB1):c.1172-12A>G
|
rs146175509
|
0.00001
|
NM_201253.3(CRB1):c.1493G>C (p.Ser498Thr)
|
rs992770731
|
0.00001
|
NM_201253.3(CRB1):c.1496G>T (p.Gly499Val)
|
rs1283508348
|
0.00001
|
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala)
|
rs375590765
|
0.00001
|
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)
|
rs750442312
|
0.00001
|
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp)
|
rs768905244
|
0.00001
|
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
|
rs1271816211
|
0.00001
|
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu)
|
rs886045784
|
0.00001
|
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala)
|
rs772386967
|
0.00001
|
NM_201253.3(CRB1):c.265C>T (p.Pro89Ser)
|
rs145525029
|
0.00001
|
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys)
|
rs62635655
|
0.00001
|
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr)
|
rs752329622
|
0.00001
|
NM_201253.3(CRB1):c.411T>C (p.Pro137=)
|
rs1009098995
|
0.00001
|
NM_201253.3(CRB1):c.639C>G (p.Pro213=)
|
rs1208641510
|
0.00001
|
NM_201548.5(CERKL):c.*1216G>A
|
rs886055313
|
0.00001
|
NM_201548.5(CERKL):c.*452G>A
|
rs201131211
|
0.00001
|
NM_201548.5(CERKL):c.*92G>C
|
rs886055317
|
0.00001
|
NM_201548.5(CERKL):c.-23C>A
|
rs755065546
|
0.00001
|
NM_201548.5(CERKL):c.1219A>C (p.Ile407Leu)
|
rs747024040
|
0.00001
|
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)
|
rs1187839124
|
0.00001
|
NM_201548.5(CERKL):c.1548A>C (p.Pro516=)
|
rs1687294615
|
0.00001
|
NM_201548.5(CERKL):c.17G>T (p.Arg6Leu)
|
rs758592149
|
0.00001
|
NM_201548.5(CERKL):c.251A>T (p.Tyr84Phe)
|
rs758960994
|
0.00001
|
NM_201548.5(CERKL):c.848T>C (p.Leu283Pro)
|
rs772798578
|
0.00001
|
NM_205861.3(DHDDS):c.*1343C>T
|
rs571845250
|
0.00001
|
NM_205861.3(DHDDS):c.*210C>T
|
rs1389894701
|
0.00001
|
NM_205861.3(DHDDS):c.*312C>T
|
rs1057515469
|
0.00001
|
NM_205861.3(DHDDS):c.*986T>A
|
rs1057515472
|
0.00001
|
NM_205861.3(DHDDS):c.468C>T (p.Tyr156=)
|
rs768075911
|
0.00001
|
NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser)
|
rs922422245
|
0.00001
|
NM_205861.3(DHDDS):c.794G>A (p.Arg265Gln)
|
rs771106680
|
0.00001
|
NM_205861.3(DHDDS):c.917G>A (p.Arg306Gln)
|
rs543487813
|
0.00001
|
NM_206933.4(USH2A):c.-204-15G>A
|
rs1162064882
|
0.00001
|
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)
|
rs770756678
|
0.00001
|
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro)
|
rs376816523
|
0.00001
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser)
|
rs759589036
|
0.00001
|
NM_206933.4(USH2A):c.1972-4C>T
|
rs772294505
|
0.00001
|
NM_206933.4(USH2A):c.2031G>T (p.Gln677His)
|
rs753305011
|
0.00001
|
NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser)
|
rs776095235
|
0.00001
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)
|
rs139156019
|
0.00001
|
NM_206933.4(USH2A):c.3969G>A (p.Met1323Ile)
|
rs886045953
|
0.00001
|
NM_206933.4(USH2A):c.4366G>A (p.Ala1456Thr)
|
rs886045950
|
0.00001
|
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu)
|
rs2034688425
|
0.00001
|
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His)
|
rs1290644032
|
0.00001
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)
|
rs761359720
|
0.00001
|
NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr)
|
rs140260219
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
0.00001
|
NM_000283.4(PDE6B):c.*115T>A
|
rs1194338211
|
|
NM_000283.4(PDE6B):c.*390T>C
|
rs886059549
|
|
NM_000283.4(PDE6B):c.*561C>T
|
rs886059551
|
|
NM_000283.4(PDE6B):c.*592A>G
|
rs886059552
|
|
NM_000283.4(PDE6B):c.*626T>C
|
rs886059553
|
|
NM_000283.4(PDE6B):c.1026C>T (p.Ser342=)
|
rs754298712
|
|
NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly)
|
rs1208473466
|
|
NM_000283.4(PDE6B):c.117G>T (p.Gly39=)
|
rs140538420
|
|
NM_000283.4(PDE6B):c.1239G>A (p.Gln413=)
|
rs1736347354
|
|
NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln)
|
rs144664551
|
|
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val)
|
rs766049601
|
|
NM_000283.4(PDE6B):c.1804C>A (p.Arg602Ser)
|
rs754298498
|
|
NM_000283.4(PDE6B):c.1811C>G (p.Thr604Ser)
|
rs752738349
|
|
NM_000283.4(PDE6B):c.1833-3C>G
|
rs1241323917
|
|
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=)
|
rs1737323722
|
|
NM_000283.4(PDE6B):c.2073C>T (p.Asp691=)
|
rs886059544
|
|
NM_000283.4(PDE6B):c.2129+9G>C
|
rs753943492
|
|
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)
|
rs150639487
|
|
NM_000283.4(PDE6B):c.2174C>T (p.Pro725Leu)
|
rs886059546
|
|
NM_000283.4(PDE6B):c.2269-7C>T
|
rs1268705787
|
|
NM_000283.4(PDE6B):c.2353-13C>T
|
rs369466418
|
|
NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys)
|
rs537263212
|
|
NM_000283.4(PDE6B):c.483C>T (p.Ser161=)
|
rs886059526
|
|
NM_000283.4(PDE6B):c.711+12C>T
|
rs886059527
|
|
NM_000283.4(PDE6B):c.853-9T>C
|
rs886059542
|
|
NM_000283.4(PDE6B):c.986T>C (p.Val329Ala)
|
rs1736021671
|
|
NM_000322.5(PRPH2):c.*152G>C
|
rs113384495
|
|
NM_000322.5(PRPH2):c.*1533A>G
|
rs1799950043
|
|
NM_000322.5(PRPH2):c.*154C>T
|
rs886061403
|
|
NM_000322.5(PRPH2):c.*1580C>G
|
rs886061399
|
|
NM_000322.5(PRPH2):c.*213A>C
|
rs886061402
|
|
NM_000322.5(PRPH2):c.-116C>G
|
rs886061406
|
|
NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser)
|
rs1799983757
|
|
NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys)
|
rs769939935
|
|
NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe)
|
rs61755788
|
|
NM_000322.5(PRPH2):c.517G>A (p.Asp173Asn)
|
rs1582780487
|
|
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)
|
rs1582764878
|
|
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val)
|
rs886061404
|
|
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs)
|
rs1799986489
|
|
NM_000326.5(RLBP1):c.*135G>A
|
rs2051524190
|
|
NM_000326.5(RLBP1):c.*301T>A
|
rs2051522830
|
|
NM_000326.5(RLBP1):c.*334T>C
|
rs886051500
|
|
NM_000326.5(RLBP1):c.-182G>C
|
rs886051503
|
|
NM_000326.5(RLBP1):c.105C>T (p.Gly35=)
|
rs373881009
|
|
NM_000326.5(RLBP1):c.228G>C (p.Ser76=)
|
rs202116993
|
|
NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro)
|
rs143121722
|
|
NM_000326.5(RLBP1):c.526-4C>T
|
rs1200459832
|
|
NM_000326.5(RLBP1):c.78A>T (p.Thr26=)
|
rs780567351
|
|
NM_000326.5(RLBP1):c.839T>C (p.Ile280Thr)
|
rs2051527243
|
|
NM_000326.5(RLBP1):c.924C>A (p.Pro308=)
|
rs144615495
|
|
NM_000327.3(ROM1):c.-118G>C
|
rs886048438
|
|
NM_000327.3(ROM1):c.-27C>T
|
rs886048439
|
|
NM_000327.3(ROM1):c.-301C>T
|
rs886048437
|
|
NM_000327.3(ROM1):c.-495G>T
|
rs886048435
|
|
NM_000327.3(ROM1):c.-499G>C
|
rs539586649
|
|
NM_000327.4(ROM1):c.167C>G (p.Ser56Cys)
|
rs199847029
|
|
NM_000327.4(ROM1):c.178C>A (p.Pro60Thr)
|
rs199757012
|
|
NM_000327.4(ROM1):c.577C>G (p.Arg193Gly)
|
rs754473229
|
|
NM_000327.4(ROM1):c.590+13C>A
|
rs139654544
|
|
NM_000327.4(ROM1):c.629A>G (p.Asp210Gly)
|
rs200287184
|
|
NM_000329.3(RPE65):c.*128G>A
|
rs1385513974
|
|
NM_000329.3(RPE65):c.*424C>A
|
rs1645803830
|
|
NM_000329.3(RPE65):c.*630C>T
|
rs1645802157
|
|
NM_000329.3(RPE65):c.*760A>C
|
rs886046508
|
|
NM_000329.3(RPE65):c.*946C>T
|
rs1645800007
|
|
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)
|
rs1645824187
|
|
NM_000329.3(RPE65):c.1386G>A (p.Glu462=)
|
rs886046509
|
|
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
|
rs1260914084
|
|
NM_000329.3(RPE65):c.366C>T (p.Tyr122=)
|
rs1479443954
|
|
NM_000329.3(RPE65):c.395C>T (p.Ala132Val)
|
rs1276965909
|
|
NM_000329.3(RPE65):c.432C>T (p.Tyr144=)
|
rs56021047
|
|
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)
|
rs886046510
|
|
NM_000329.3(RPE65):c.718G>A (p.Val240Ile)
|
rs192907397
|
|
NM_000329.3(RPE65):c.922_924del (p.Pro308del)
|
rs756125943
|
|
NM_000440.3(PDE6A):c.*1251C>A
|
rs1760060829
|
|
NM_000440.3(PDE6A):c.*126T>C
|
rs886060216
|
|
NM_000440.3(PDE6A):c.*1304G>A
|
rs886060211
|
|
NM_000440.3(PDE6A):c.*1359G>T
|
rs551130416
|
|
NM_000440.3(PDE6A):c.*2029G>A
|
rs1760029760
|
|
NM_000440.3(PDE6A):c.*2068G>A
|
rs251458
|
|
NM_000440.3(PDE6A):c.*2582T>C
|
rs1760007422
|
|
NM_000440.3(PDE6A):c.*2615C>T
|
rs965453260
|
|
NM_000440.3(PDE6A):c.*2620C>A
|
rs188603235
|
|
NM_000440.3(PDE6A):c.*2626C>G
|
rs367679417
|
|
NM_000440.3(PDE6A):c.*38T>C
|
rs1760108860
|
|
NM_000440.3(PDE6A):c.*714G>C
|
rs1398735404
|
|
NM_000440.3(PDE6A):c.*932T>C
|
rs990393994
|
|
NM_000440.3(PDE6A):c.*955C>T
|
rs1760069963
|
|
NM_000440.3(PDE6A):c.*956G>A
|
rs185298177
|
|
NM_000440.3(PDE6A):c.1130A>G (p.Glu377Gly)
|
rs1752887985
|
|
NM_000440.3(PDE6A):c.159C>A (p.Ser53Arg)
|
rs762456548
|
|
NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg)
|
rs2113582384
|
|
NM_000440.3(PDE6A):c.1776G>A (p.Met592Ile)
|
rs1752302695
|
|
NM_000440.3(PDE6A):c.1965T>C (p.His655=)
|
rs753303277
|
|
NM_000440.3(PDE6A):c.2135+15G>C
|
rs372808484
|
|
NM_000440.3(PDE6A):c.2322C>T (p.Val774=)
|
rs766767235
|
|
NM_000440.3(PDE6A):c.2417G>A (p.Arg806His)
|
rs145718445
|
|
NM_000440.3(PDE6A):c.2512G>A (p.Ala838Thr)
|
rs778365507
|
|
NM_000440.3(PDE6A):c.253C>G (p.Leu85Val)
|
rs778014812
|
|
NM_000440.3(PDE6A):c.300G>A (p.Arg100=)
|
rs886060217
|
|
NM_000440.3(PDE6A):c.367G>A (p.Asp123Asn)
|
rs147010346
|
|
NM_000440.3(PDE6A):c.578T>C (p.Met193Thr)
|
rs1195726721
|
|
NM_000440.3(PDE6A):c.672G>T (p.Val224=)
|
rs1219967457
|
|
NM_000440.3(PDE6A):c.944T>G (p.Phe315Cys)
|
rs762090796
|
|
NM_000539.3(RHO):c.*1454G>A
|
rs2084812090
|
|
NM_000539.3(RHO):c.*224C>T
|
rs886057970
|
|
NM_000539.3(RHO):c.*26C>T
|
rs773347364
|
|
NM_000539.3(RHO):c.*276C>T
|
rs759322778
|
|
NM_000539.3(RHO):c.*406G>C
|
rs2084804479
|
|
NM_000539.3(RHO):c.*40C>T
|
rs886057968
|
|
NM_000539.3(RHO):c.*542G>A
|
rs369408405
|
|
NM_000539.3(RHO):c.*573C>T
|
rs2084806235
|
|
NM_000539.3(RHO):c.*633G>A
|
rs886057972
|
|
NM_000539.3(RHO):c.*645G>C
|
rs886057973
|
|
NM_000539.3(RHO):c.*670A>C
|
rs2084806843
|
|
NM_000539.3(RHO):c.*679A>G
|
rs1359424642
|
|
NM_000539.3(RHO):c.*815G>T
|
rs2084807511
|
|
NM_000539.3(RHO):c.*838A>T
|
rs886057974
|
|
NM_000539.3(RHO):c.*887G>C
|
rs886057975
|
|
NM_000539.3(RHO):c.*959A>G
|
rs368910470
|
|
NM_000539.3(RHO):c.*970C>T
|
rs886057976
|
|
NM_000539.3(RHO):c.-24G>T
|
rs771188148
|
|
NM_000539.3(RHO):c.568G>C (p.Asp190His)
|
rs104893779
|
|
NM_000539.3(RHO):c.586C>A (p.Pro196Thr)
|
rs765931092
|
|
NM_000539.3(RHO):c.614T>G (p.Ile205Ser)
|
rs886057967
|
|
NM_000539.3(RHO):c.696+12G>A
|
rs55915536
|
|
NM_000539.3(RHO):c.704C>A (p.Ala235Asp)
|
rs1390478420
|
|
NM_000539.3(RHO):c.766_777del (p.Ile256_Ile259del)
|
rs2084789093
|
|
NM_000539.3(RHO):c.847T>C (p.Phe283Leu)
|
rs2084790979
|
|
NM_000539.3(RHO):c.948C>T (p.Cys316=)
|
rs754809715
|
|
NM_000541.5(SAG):c.*90G>A
|
rs143418950
|
|
NM_000541.5(SAG):c.793A>G (p.Met265Val)
|
rs781755716
|
|
NM_000554.4:c.(?_-1)_(*1_?)dup
|
|
|
NM_000554.6(CRX):c.*110C>A
|
rs1968176550
|
|
NM_000554.6(CRX):c.*1149G>A
|
rs886054555
|
|
NM_000554.6(CRX):c.*1223A>G
|
rs1968192567
|
|
NM_000554.6(CRX):c.*1309T>C
|
rs886054556
|
|
NM_000554.6(CRX):c.*1330C>T
|
rs1049141176
|
|
NM_000554.6(CRX):c.*2225A>G
|
rs1968205705
|
|
NM_000554.6(CRX):c.*234G>A
|
rs754333326
|
|
NM_000554.6(CRX):c.*2580G>A
|
rs1968211334
|
|
NM_000554.6(CRX):c.*272T>C
|
rs1286758532
|
|
NM_000554.6(CRX):c.*2850G>A
|
rs769789306
|
|
NM_000554.6(CRX):c.*2935G>T
|
rs1968215891
|
|
NM_000554.6(CRX):c.*2952G>A
|
rs886054562
|
|
NM_000554.6(CRX):c.*2979T>C
|
rs1968216535
|
|
NM_000554.6(CRX):c.*3077C>G
|
rs965939233
|
|
NM_000554.6(CRX):c.*3099C>T
|
rs1968218106
|
|
NM_000554.6(CRX):c.-55C>T
|
rs886054543
|
|
NM_000554.6(CRX):c.105C>A (p.Ala35=)
|
rs886054545
|
|
NM_000554.6(CRX):c.139A>C (p.Thr47Pro)
|
rs1939392843
|
|
NM_000554.6(CRX):c.400G>A (p.Asp134Asn)
|
rs1968164288
|
|
NM_000554.6(CRX):c.565G>C (p.Ala189Pro)
|
rs142111462
|
|
NM_000554.6(CRX):c.616T>C (p.Ser206Pro)
|
rs1193377720
|
|
NM_000554.6(CRX):c.651C>T (p.Gly217=)
|
rs1968170615
|
|
NM_000554.6(CRX):c.717C>A (p.Gly239=)
|
rs886054546
|
|
NM_000554.6(CRX):c.857T>C (p.Leu286Pro)
|
rs886054547
|
|
NM_000717.5(CA4):c.*78T>C
|
rs372423531
|
|
NM_000717.5(CA4):c.210C>A (p.Phe70Leu)
|
rs886053185
|
|
NM_000717.5(CA4):c.699C>T (p.Val233=)
|
rs764759588
|
|
NM_000883.4(IMPDH1):c.*105T>A
|
rs886061983
|
|
NM_000883.4(IMPDH1):c.*130A>G
|
rs1797626715
|
|
NM_000883.4(IMPDH1):c.*137G>C
|
rs72624973
|
|
NM_000883.4(IMPDH1):c.*168G>A
|
rs531478376
|
|
NM_000883.4(IMPDH1):c.*202C>T
|
rs886061982
|
|
NM_000883.4(IMPDH1):c.*223C>A
|
rs543042380
|
|
NM_000883.4(IMPDH1):c.*223C>T
|
rs543042380
|
|
NM_000883.4(IMPDH1):c.*256T>C
|
rs752294619
|
|
NM_000883.4(IMPDH1):c.*321G>A
|
rs571536404
|
|
NM_000883.4(IMPDH1):c.*410G>A
|
rs530960760
|
|
NM_000883.4(IMPDH1):c.-17T>C
|
rs1799034671
|
|
NM_000883.4(IMPDH1):c.1075-3C>T
|
rs1797968829
|
|
NM_000883.4(IMPDH1):c.146+6G>T
|
rs1799017366
|
|
NM_000883.4(IMPDH1):c.1573G>T (p.Ala525Ser)
|
rs367951647
|
|
NM_000883.4(IMPDH1):c.1695-11C>T
|
rs1797754885
|
|
NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile)
|
rs886061984
|
|
NM_000883.4(IMPDH1):c.424C>T (p.Arg142Trp)
|
rs376769056
|
|
NM_000883.4(IMPDH1):c.694A>G (p.Thr232Ala)
|
rs979315605
|
|
NM_000883.4(IMPDH1):c.795G>A (p.Thr265=)
|
rs757423102
|
|
NM_001004334.4(GPR179):c.4835GAG[2] (p.Gly1614del)
|
rs767449258
|
|
NM_001012720.2(RGR):c.*386C>T
|
rs1842923502
|
|
NM_001012720.2(RGR):c.*494G>C
|
rs546408776
|
|
NM_001012720.2(RGR):c.*514T>C
|
rs1589338150
|
|
NM_001012720.2(RGR):c.358+1G>A
|
rs548051515
|
|
NM_001012720.2(RGR):c.359-15C>A
|
rs373630058
|
|
NM_001012720.2(RGR):c.750C>A (p.Pro250=)
|
rs748553756
|
|
NM_001029883.3(PCARE):c.*1703A>G
|
rs1667337424
|
|
NM_001029883.3(PCARE):c.*1933G>C
|
rs1667333583
|
|
NM_001029883.3(PCARE):c.*2066A>G
|
rs1667329985
|
|
NM_001029883.3(PCARE):c.*2441C>A
|
rs551398169
|
|
NM_001029883.3(PCARE):c.*2652T>C
|
rs539485807
|
|
NM_001029883.3(PCARE):c.*2763A>G
|
rs886055912
|
|
NM_001029883.3(PCARE):c.*412C>T
|
rs531692702
|
|
NM_001029883.3(PCARE):c.*953G>A
|
rs1667348222
|
|
NM_001029883.3(PCARE):c.1471G>A (p.Glu491Lys)
|
rs528670230
|
|
NM_001029883.3(PCARE):c.1582C>A (p.Arg528Ser)
|
rs80151896
|
|
NM_001029883.3(PCARE):c.1762C>T (p.Pro588Ser)
|
rs886055922
|
|
NM_001029883.3(PCARE):c.21C>A (p.His7Gln)
|
rs746892215
|
|
NM_001029883.3(PCARE):c.2243G>C (p.Gly748Ala)
|
rs1381872170
|
|
NM_001029883.3(PCARE):c.2530G>C (p.Ala844Pro)
|
rs370203821
|
|
NM_001029883.3(PCARE):c.2709T>G (p.Pro903=)
|
rs1258874690
|
|
NM_001029883.3(PCARE):c.293C>T (p.Thr98Ile)
|
rs1667544030
|
|
NM_001029883.3(PCARE):c.2965C>A (p.Pro989Thr)
|
rs184281410
|
|
NM_001029883.3(PCARE):c.2965C>G (p.Pro989Ala)
|
rs184281410
|
|
NM_001029883.3(PCARE):c.3090dup (p.Ser1031fs)
|
rs1558488002
|
|
NM_001029883.3(PCARE):c.3177T>C (p.Pro1059=)
|
rs794726892
|
|
NM_001029883.3(PCARE):c.3356C>T (p.Thr1119Ile)
|
rs1667463778
|
|
NM_001029883.3(PCARE):c.3652C>T (p.Gln1218Ter)
|
rs1558487417
|
|
NM_001029883.3(PCARE):c.3658G>A (p.Gly1220Ser)
|
rs554321432
|
|
NM_001029883.3(PCARE):c.3712A>C (p.Ser1238Arg)
|
rs1667371060
|
|
NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe)
|
rs78471512
|
|
NM_001029883.3(PCARE):c.537T>C (p.Pro179=)
|
rs201965800
|
|
NM_001031710.3(KLHL7):c.*201G>A
|
rs781364081
|
|
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)
|
rs1554286384
|
|
NM_001031710.3(KLHL7):c.451G>T (p.Val151Leu)
|
rs1784155928
|
|
NM_001031710.3(KLHL7):c.616C>T (p.Gln206Ter)
|
rs1562571985
|
|
NM_001034853.2(RPGR):c.492G>T (p.Trp164Cys)
|
rs62638648
|
|
NM_001042432.2(CLN3):c.534G>C (p.Arg178Ser)
|
rs756640405
|
|
NM_001042432.2(CLN3):c.611A>C (p.Gln204Pro)
|
rs2141712276
|
|
NM_001077620.3(PRCD):c.*1002G>A
|
rs1229301103
|
|
NM_001077620.3(PRCD):c.*1247C>A
|
rs886053480
|
|
NM_001077620.3(PRCD):c.*1268C>A
|
rs572748485
|
|
NM_001077620.3(PRCD):c.*1714C>T
|
rs886053482
|
|
NM_001077620.3(PRCD):c.*241G>A
|
rs1361539486
|
|
NM_001077620.3(PRCD):c.*248A>G
|
rs886053475
|
|
NM_001077620.3(PRCD):c.*590C>A
|
rs144319284
|
|
NM_001077620.3(PRCD):c.*643C>T
|
rs745814897
|
|
NM_001077620.3(PRCD):c.114C>T (p.Ser38=)
|
rs2074979029
|
|
NM_001077620.3(PRCD):c.75-10C>A
|
rs886053474
|
|
NM_001077620.3(PRCD):c.85G>C (p.Asp29His)
|
rs372084413
|
|
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer)
|
rs1561480377
|
|
NM_001134831.2(AHI1):c.2258A>T (p.Asp753Val)
|
rs1562758269
|
|
NM_001142800.2(EYS):c.-333G>T
|
rs1038300996
|
|
NM_001142800.2(EYS):c.-350G>A
|
rs886061687
|
|
NM_001142800.2(EYS):c.-407C>G
|
rs137924872
|
|
NM_001142800.2(EYS):c.-82T>C
|
rs1766226162
|
|
NM_001142800.2(EYS):c.1232A>G (p.His411Arg)
|
rs886061685
|
|
NM_001142800.2(EYS):c.1497C>T (p.Ala499=)
|
rs1300237940
|
|
NM_001142800.2(EYS):c.1767-3C>G
|
rs1768658375
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2000G>T (p.Arg667Leu)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2023+5G>T
|
rs1287889008
|
|
NM_001142800.2(EYS):c.2077G>A (p.Gly693Arg)
|
rs1258209665
|
|
NM_001142800.2(EYS):c.2483C>G (p.Thr828Ser)
|
rs1768037062
|
|
NM_001142800.2(EYS):c.2641+13A>G
|
rs1768029318
|
|
NM_001142800.2(EYS):c.2837T>C (p.Leu946Pro)
|
rs1767685290
|
|
NM_001142800.2(EYS):c.2975G>T (p.Cys992Phe)
|
rs566917467
|
|
NM_001142800.2(EYS):c.2992+9A>G
|
rs886061680
|
|
NM_001142800.2(EYS):c.3265A>G (p.Met1089Val)
|
rs1764663420
|
|
NM_001142800.2(EYS):c.334G>C (p.Val112Leu)
|
rs112609906
|
|
NM_001142800.2(EYS):c.3352A>G (p.Ile1118Val)
|
rs886061679
|
|
NM_001142800.2(EYS):c.3684+2T>A
|
rs1562094391
|
|
NM_001142800.2(EYS):c.3690C>T (p.Cys1230=)
|
rs886061678
|
|
NM_001142800.2(EYS):c.3694A>G (p.Ile1232Val)
|
rs190009374
|
|
NM_001142800.2(EYS):c.3855G>T (p.Met1285Ile)
|
rs886061677
|
|
NM_001142800.2(EYS):c.3949A>G (p.Thr1317Ala)
|
rs1766425037
|
|
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser)
|
rs747921119
|
|
NM_001142800.2(EYS):c.4606C>A (p.Gln1536Lys)
|
rs557152369
|
|
NM_001142800.2(EYS):c.4607A>G (p.Gln1536Arg)
|
rs528387472
|
|
NM_001142800.2(EYS):c.4663A>G (p.Thr1555Ala)
|
rs886061674
|
|
NM_001142800.2(EYS):c.536G>A (p.Ser179Asn)
|
rs1766186895
|
|
NM_001142800.2(EYS):c.5409A>G (p.Ser1803=)
|
rs886061673
|
|
NM_001142800.2(EYS):c.5436A>C (p.Val1812=)
|
rs1376017497
|
|
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe)
|
rs542339299
|
|
NM_001142800.2(EYS):c.5728G>A (p.Glu1910Lys)
|
rs867380219
|
|
NM_001142800.2(EYS):c.5866T>G (p.Phe1956Val)
|
rs1269786039
|
|
NM_001142800.2(EYS):c.6079-24TC[12]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6112A>G (p.Ile2038Val)
|
rs553772732
|
|
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser)
|
rs1554202833
|
|
NM_001142800.2(EYS):c.6899G>T (p.Gly2300Val)
|
rs531588707
|
|
NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe)
|
rs564315274
|
|
NM_001142800.2(EYS):c.7047C>A (p.Thr2349=)
|
rs1767253468
|
|
NM_001142800.2(EYS):c.7202G>C (p.Gly2401Ala)
|
rs886061670
|
|
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter)
|
rs1562220891
|
|
NM_001142800.2(EYS):c.7620A>C (p.Arg2540Ser)
|
rs886061667
|
|
NM_001142800.2(EYS):c.7737T>G (p.Thr2579=)
|
rs191846522
|
|
NM_001142800.2(EYS):c.7899-8A>G
|
rs1769675220
|
|
NM_001142800.2(EYS):c.7915G>A (p.Gly2639Arg)
|
rs778077385
|
|
NM_001142800.2(EYS):c.8151G>T (p.Lys2717Asn)
|
rs983603381
|
|
NM_001142800.2(EYS):c.8211A>C (p.Ala2737=)
|
rs1011193191
|
|
NM_001142800.2(EYS):c.8326G>C (p.Val2776Leu)
|
rs886061664
|
|
NM_001142800.2(EYS):c.847G>A (p.Asp283Asn)
|
rs1766003671
|
|
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly)
|
rs1554163939
|
|
NM_001201543.2(FAM161A):c.*1349A>G
|
rs886056214
|
|
NM_001201543.2(FAM161A):c.*44G>A
|
rs745524377
|
|
NM_001201543.2(FAM161A):c.*44G>C
|
rs745524377
|
|
NM_001201543.2(FAM161A):c.*519C>A
|
rs535265888
|
|
NM_001201543.2(FAM161A):c.*525G>T
|
rs1672343350
|
|
NM_001201543.2(FAM161A):c.1212T>G (p.Cys404Trp)
|
rs4672457
|
|
NM_001201543.2(FAM161A):c.1368A>G (p.Pro456=)
|
rs1558483269
|
|
NM_001201543.2(FAM161A):c.1408G>C (p.Glu470Gln)
|
rs554664966
|
|
NM_001201543.2(FAM161A):c.1841G>A (p.Arg614Lys)
|
rs886056218
|
|
NM_001201543.2(FAM161A):c.1971T>G (p.Asn657Lys)
|
rs867264184
|
|
NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del)
|
rs558080743
|
|
NM_001201543.2(FAM161A):c.2T>C (p.Met1Thr)
|
rs1673593434
|
|
NM_001201543.2(FAM161A):c.435A>C (p.Glu145Asp)
|
rs202022070
|
|
NM_001201543.2(FAM161A):c.934G>C (p.Glu312Gln)
|
rs1166920376
|
|
NM_001242957.3(MAK):c.1597+13T>A
|
rs1773369108
|
|
NM_001242957.3(MAK):c.1673-15A>G
|
rs1772880607
|
|
NM_001242957.3(MAK):c.358+12T>C
|
rs200703968
|
|
NM_001278293.3(ARL6):c.*275G>A
|
rs886058939
|
|
NM_001278293.3(ARL6):c.-27-1461A>T
|
rs143739859
|
|
NM_001278293.3(ARL6):c.266C>A (p.Ala89Asp)
|
rs587777805
|
|
NM_001278293.3(ARL6):c.341A>G (p.Asn114Ser)
|
rs2037385151
|
|
NM_001278293.3(ARL6):c.365G>C (p.Arg122Pro)
|
rs142258123
|
|
NM_001278293.3(ARL6):c.526T>C (p.Trp176Arg)
|
rs886058938
|
|
NM_001297.5(CNGB1):c.*1085A>G
|
rs1959802217
|
|
NM_001297.5(CNGB1):c.*1508C>T
|
rs1346378346
|
|
NM_001297.5(CNGB1):c.*170C>G
|
rs931662996
|
|
NM_001297.5(CNGB1):c.*1800C>T
|
rs1959778647
|
|
NM_001297.5(CNGB1):c.*24C>A
|
rs371395789
|
|
NM_001297.5(CNGB1):c.*611G>A
|
rs886052189
|
|
NM_001297.5(CNGB1):c.*70C>G
|
rs1959831823
|
|
NM_001297.5(CNGB1):c.*720A>G
|
rs547306682
|
|
NM_001297.5(CNGB1):c.*837C>T
|
rs900274353
|
|
NM_001297.5(CNGB1):c.1034+14G>A
|
rs1324984264
|
|
NM_001297.5(CNGB1):c.1056G>A (p.Glu352=)
|
rs773973583
|
|
NM_001297.5(CNGB1):c.1149G>T (p.Ser383=)
|
rs775050027
|
|
NM_001297.5(CNGB1):c.1275C>G (p.Ala425=)
|
rs376016716
|
|
NM_001297.5(CNGB1):c.1373-3C>A
|
rs564200357
|
|
NM_001297.5(CNGB1):c.1500C>G (p.Thr500=)
|
rs75406397
|
|
NM_001297.5(CNGB1):c.1667C>A (p.Thr556Lys)
|
rs199836349
|
|
NM_001297.5(CNGB1):c.1770C>G (p.Asp590Glu)
|
rs770735553
|
|
NM_001297.5(CNGB1):c.1957+11G>A
|
rs190910346
|
|
NM_001297.5(CNGB1):c.2030G>T (p.Arg677Leu)
|
rs375519490
|
|
NM_001297.5(CNGB1):c.2085T>A (p.Asp695Glu)
|
rs1596976489
|
|
NM_001297.5(CNGB1):c.2304G>C (p.Lys768Asn)
|
rs1596974089
|
|
NM_001297.5(CNGB1):c.2361C>T (p.Tyr787=)
|
rs367678786
|
|
NM_001297.5(CNGB1):c.2412G>A (p.Leu804=)
|
rs374417317
|
|
NM_001297.5(CNGB1):c.2599A>G (p.Thr867Ala)
|
rs1960495727
|
|
NM_001297.5(CNGB1):c.2623A>G (p.Met875Val)
|
rs1960494720
|
|
NM_001297.5(CNGB1):c.2634+4T>C
|
rs202096769
|
|
NM_001297.5(CNGB1):c.2634+5C>T
|
rs372812881
|
|
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu)
|
rs7190978
|
|
NM_001297.5(CNGB1):c.2853C>T (p.Asp951=)
|
rs7190978
|
|
NM_001297.5(CNGB1):c.2873G>A (p.Ser958Asn)
|
rs1414083701
|
|
NM_001297.5(CNGB1):c.3185T>G (p.Leu1062Arg)
|
rs773593999
|
|
NM_001297.5(CNGB1):c.3244C>T (p.Arg1082Cys)
|
rs199780945
|
|
NM_001297.5(CNGB1):c.3462+8G>T
|
rs368962905
|
|
NM_001297.5(CNGB1):c.3609C>T (p.Ala1203=)
|
rs1319835493
|
|
NM_001297.5(CNGB1):c.3639G>C (p.Glu1213Asp)
|
rs886052191
|
|
NM_001297.5(CNGB1):c.3728C>G (p.Pro1243Arg)
|
rs372109962
|
|
NM_001297.5(CNGB1):c.469C>T (p.Arg157Trp)
|
rs775590206
|
|
NM_001297.5(CNGB1):c.629G>A (p.Arg210Gln)
|
rs759153238
|
|
NM_001297.5(CNGB1):c.746C>A (p.Thr249Asn)
|
rs556681458
|
|
NM_001297.5(CNGB1):c.802C>T (p.Pro268Ser)
|
rs886052193
|
|
NM_001297.5(CNGB1):c.898G>A (p.Val300Met)
|
rs763142627
|
|
NM_001354768.3(NRL):c.*1043G>A
|
rs767236932
|
|
NM_001354768.3(NRL):c.*480A>G
|
rs886050427
|
|
NM_001354768.3(NRL):c.*56G>A
|
rs886050428
|
|
NM_001354768.3(NRL):c.*673C>A
|
rs2036249329
|
|
NM_001354768.3(NRL):c.*780G>C
|
rs886050426
|
|
NM_001354768.3(NRL):c.*813G>A
|
rs560755924
|
|
NM_001354768.3(NRL):c.-27-1663C>T
|
rs2036417721
|
|
NM_001354768.3(NRL):c.227C>G (p.Ala76Gly)
|
rs149921817
|
|
NM_001354768.3(NRL):c.559C>A (p.Leu187Met)
|
rs35984106
|
|
NM_001370348.2(PHF3):c.*6340C>T
|
rs1768312466
|
|
NM_001370348.2(PHF3):c.*6602A>T
|
rs553600976
|
|
NM_001370348.2(PHF3):c.*6699A>G
|
rs1195516155
|
|
NM_001370348.2(PHF3):c.*8104A>T
|
rs886061665
|
|
NM_001378477.3(NYX):c.704A>G (p.Asn235Ser)
|
rs2147025940
|
|
NM_001379270.1(CNGA1):c.*227A>T
|
rs1738627987
|
|
NM_001379270.1(CNGA1):c.-189G>A
|
rs1715125888
|
|
NM_001379270.1(CNGA1):c.-222-2004C>T
|
rs566127226
|
|
NM_001379270.1(CNGA1):c.-222-2043G>C
|
rs1315891464
|
|
NM_001379270.1(CNGA1):c.-222-2054T>G
|
rs1715232781
|
|
NM_001379270.1(CNGA1):c.-222-2062G>T
|
rs1269991697
|
|
NM_001379270.1(CNGA1):c.1712G>A (p.Cys571Tyr)
|
rs886059422
|
|
NM_001379270.1(CNGA1):c.35T>C (p.Phe12Ser)
|
rs981071919
|
|
NM_001379270.1(CNGA1):c.816dup (p.Arg273fs)
|
rs767994904
|
|
NM_001379270.1(CNGA1):c.829A>G (p.Met277Val)
|
rs886059423
|
|
NM_001379270.1(CNGA1):c.848G>A (p.Arg283Lys)
|
rs577505007
|
|
NM_001385641.1(SAMD11):c.859C>T (p.Pro287Ser)
|
rs762363509
|
|
NM_001563.4(IMPG1):c.742A>C (p.Lys248Gln)
|
|
|
NM_001844.5(COL2A1):c.2162T>C (p.Leu721Pro)
|
|
|
NM_002098.6(GUCA1B):c.*1263G>A
|
rs548960052
|
|
NM_002098.6(GUCA1B):c.*179A>T
|
rs886061397
|
|
NM_002098.6(GUCA1B):c.*205T>C
|
rs886061396
|
|
NM_002098.6(GUCA1B):c.*358A>G
|
rs1768159793
|
|
NM_002098.6(GUCA1B):c.*507C>G
|
rs546491968
|
|
NM_002098.6(GUCA1B):c.*589T>C
|
rs1768153938
|
|
NM_002098.6(GUCA1B):c.*940C>G
|
rs1768147032
|
|
NM_002098.6(GUCA1B):c.-114A>G
|
rs72854838
|
|
NM_002098.6(GUCA1B):c.260G>C (p.Arg87Thr)
|
rs911189359
|
|
NM_002098.6(GUCA1B):c.95G>C (p.Cys32Ser)
|
rs140794161
|
|
NM_002602.4(PDE6G):c.*342C>T
|
rs2036335909
|
|
NM_002602.4(PDE6G):c.*420G>A
|
rs575031718
|
|
NM_002602.4(PDE6G):c.*4G>C
|
rs200236628
|
|
NM_002602.4(PDE6G):c.*529C>T
|
rs1479530684
|
|
NM_002602.4(PDE6G):c.-57C>G
|
rs772348610
|
|
NM_002602.4(PDE6G):c.-92C>G
|
rs1598721991
|
|
NM_002602.4(PDE6G):c.14C>T (p.Pro5Leu)
|
rs762125725
|
|
NM_002900.3(RBP3):c.*116A>C
|
rs1837067775
|
|
NM_002900.3(RBP3):c.*226C>G
|
rs541270803
|
|
NM_002900.3(RBP3):c.*266C>G
|
rs998604639
|
|
NM_002900.3(RBP3):c.-83G>A
|
rs1836888927
|
|
NM_002900.3(RBP3):c.1588C>T (p.Arg530Cys)
|
rs202162675
|
|
NM_002900.3(RBP3):c.1641G>A (p.Thr547=)
|
rs534717081
|
|
NM_002900.3(RBP3):c.1674G>A (p.Ser558=)
|
rs372137106
|
|
NM_002900.3(RBP3):c.1742T>A (p.Leu581Gln)
|
rs886047021
|
|
NM_002900.3(RBP3):c.1754C>A (p.Pro585His)
|
rs781830183
|
|
NM_002900.3(RBP3):c.1776C>G (p.Thr592=)
|
rs139452142
|
|
NM_002900.3(RBP3):c.1776C>T (p.Thr592=)
|
rs139452142
|
|
NM_002900.3(RBP3):c.1813G>C (p.Ala605Pro)
|
rs886047020
|
|
NM_002900.3(RBP3):c.1919T>C (p.Val640Ala)
|
rs886047019
|
|
NM_002900.3(RBP3):c.2012G>A (p.Gly671Asp)
|
rs886047018
|
|
NM_002900.3(RBP3):c.2221G>A (p.Gly741Ser)
|
rs143110000
|
|
NM_002900.3(RBP3):c.2327C>A (p.Ala776Asp)
|
rs782431515
|
|
NM_002900.3(RBP3):c.2497C>A (p.Arg833Ser)
|
rs142945423
|
|
NM_002900.3(RBP3):c.3245+1del
|
rs868975969
|
|
NM_002900.3(RBP3):c.3363A>G (p.Glu1121=)
|
rs201472530
|
|
NM_002900.3(RBP3):c.3382G>A (p.Val1128Ile)
|
rs1588865742
|
|
NM_002900.3(RBP3):c.590A>G (p.Asp197Gly)
|
rs1555210967
|
|
NM_002900.3(RBP3):c.971G>T (p.Ser324Ile)
|
rs1836914786
|
|
NM_003322.6(TULP1):c.*272C>G
|
rs1231614922
|
|
NM_003322.6(TULP1):c.*278C>T
|
rs886061335
|
|
NM_003322.6(TULP1):c.*31C>T
|
rs886061336
|
|
NM_003322.6(TULP1):c.1495+6T>C
|
rs1213236285
|
|
NM_003322.6(TULP1):c.224C>T (p.Ser75Phe)
|
rs1244588827
|
|
NM_003322.6(TULP1):c.26G>A (p.Arg9Gln)
|
rs886061338
|
|
NM_003322.6(TULP1):c.477G>C (p.Arg159Ser)
|
rs749882966
|
|
NM_003322.6(TULP1):c.5C>A (p.Pro2His)
|
rs1174952138
|
|
NM_003322.6(TULP1):c.647C>T (p.Ala216Val)
|
rs754221623
|
|
NM_003322.6(TULP1):c.846G>A (p.Pro282=)
|
rs149980694
|
|
NM_003322.6(TULP1):c.890G>C (p.Arg297Pro)
|
rs777674253
|
|
NM_004183.4(BEST1):c.-66G>T
|
rs886048425
|
|
NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu)
|
rs751707411
|
|
NM_004183.4(BEST1):c.1157A>C (p.His386Pro)
|
rs886048427
|
|
NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly)
|
rs757181644
|
|
NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala)
|
rs281865283
|
|
NM_004183.4(BEST1):c.229C>A (p.Pro77Thr)
|
rs1941154059
|
|
NM_004183.4(BEST1):c.351G>A (p.Lys117=)
|
rs886048426
|
|
NM_004698.4(PRPF3):c.*209T>C
|
rs886045265
|
|
NM_004698.4(PRPF3):c.-80C>T
|
rs1655040946
|
|
NM_004698.4(PRPF3):c.1288A>G (p.Asn430Asp)
|
rs1657976600
|
|
NM_004698.4(PRPF3):c.1390G>A (p.Val464Ile)
|
rs1657984645
|
|
NM_004698.4(PRPF3):c.1455A>G (p.Leu485=)
|
rs886045261
|
|
NM_004698.4(PRPF3):c.1464A>C (p.Glu488Asp)
|
rs142253030
|
|
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)
|
rs121434241
|
|
NM_004698.4(PRPF3):c.1847A>T (p.Asp616Val)
|
rs587704985
|
|
NM_004698.4(PRPF3):c.1906-15A>C
|
rs886045262
|
|
NM_004698.4(PRPF3):c.2014C>T (p.Leu672Phe)
|
rs1659093313
|
|
NM_004698.4(PRPF3):c.822G>C (p.Leu274=)
|
rs886045260
|
|
NM_004744.5(LRAT):c.*138C>A
|
rs1241475769
|
|
NM_004744.5(LRAT):c.*1936G>C
|
rs1011111572
|
|
NM_004744.5(LRAT):c.*2064T>G
|
rs959693267
|
|
NM_004744.5(LRAT):c.*2222G>C
|
rs940106140
|
|
NM_004744.5(LRAT):c.*2310A>T
|
rs368622887
|
|
NM_004744.5(LRAT):c.*2396C>G
|
rs867110135
|
|
NM_004744.5(LRAT):c.*2418G>A
|
rs886059170
|
|
NM_004744.5(LRAT):c.*2463T>C
|
rs530211304
|
|
NM_004744.5(LRAT):c.*2467C>G
|
rs886059172
|
|
NM_004744.5(LRAT):c.*2629G>A
|
rs112759047
|
|
NM_004744.5(LRAT):c.*2855A>G
|
rs1733006832
|
|
NM_004744.5(LRAT):c.*2968C>G
|
rs886059175
|
|
NM_004744.5(LRAT):c.*3072G>T
|
rs944531041
|
|
NM_004744.5(LRAT):c.*3213C>T
|
rs1733014698
|
|
NM_004744.5(LRAT):c.*329T>C
|
rs886059164
|
|
NM_004744.5(LRAT):c.*336C>T
|
rs963950353
|
|
NM_004744.5(LRAT):c.*3770A>G
|
rs886059178
|
|
NM_004744.5(LRAT):c.*3917A>G
|
rs1052203357
|
|
NM_004744.5(LRAT):c.*3958G>A
|
rs886059179
|
|
NM_004744.5(LRAT):c.*495C>T
|
rs755614971
|
|
NM_004744.5(LRAT):c.*828G>C
|
rs1732961028
|
|
NM_004744.5(LRAT):c.*98C>A
|
rs529360609
|
|
NM_004744.5(LRAT):c.-115C>G
|
rs886059159
|
|
NM_004744.5(LRAT):c.258G>A (p.Gly86=)
|
rs768389044
|
|
NM_004744.5(LRAT):c.364A>G (p.Ile122Val)
|
rs907805484
|
|
NM_005802.5(TOPORS):c.*350A>G
|
rs979887725
|
|
NM_005802.5(TOPORS):c.*358T>C
|
rs1821048003
|
|
NM_005802.5(TOPORS):c.*430A>G
|
rs1821046786
|
|
NM_005802.5(TOPORS):c.*506A>G
|
rs886063851
|
|
NM_005802.5(TOPORS):c.143G>T (p.Gly48Val)
|
rs1587627051
|
|
NM_005802.5(TOPORS):c.1817G>A (p.Ser606Asn)
|
rs1821086096
|
|
NM_005802.5(TOPORS):c.199-9C>T
|
rs1176852169
|
|
NM_005802.5(TOPORS):c.2161A>G (p.Arg721Gly)
|
rs794727506
|
|
NM_005802.5(TOPORS):c.2321G>A (p.Ser774Asn)
|
rs1821074946
|
|
NM_005802.5(TOPORS):c.2797G>T (p.Asp933Tyr)
|
rs761851969
|
|
NM_005802.5(TOPORS):c.3038G>A (p.Ser1013Asn)
|
rs1821057345
|
|
NM_005802.5(TOPORS):c.487C>T (p.Leu163=)
|
rs1319962569
|
|
NM_005802.5(TOPORS):c.74C>T (p.Ser25Leu)
|
rs61758066
|
|
NM_006017.3(PROM1):c.*107G>T
|
rs1024479425
|
|
NM_006017.3(PROM1):c.*1143A>C
|
rs544424652
|
|
NM_006017.3(PROM1):c.*1160A>G
|
rs886059194
|
|
NM_006017.3(PROM1):c.*551A>T
|
rs886059197
|
|
NM_006017.3(PROM1):c.*640T>A
|
rs1713667197
|
|
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp)
|
rs1414948996
|
|
NM_006017.3(PROM1):c.105A>G (p.Glu35=)
|
rs886059205
|
|
NM_006017.3(PROM1):c.1218C>G (p.Leu406=)
|
rs886059203
|
|
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser)
|
rs886059202
|
|
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met)
|
rs200710798
|
|
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)
|
rs755064227
|
|
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr)
|
rs886059200
|
|
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp)
|
rs768320190
|
|
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)
|
rs530749007
|
|
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)
|
rs199727800
|
|
NM_006017.3(PROM1):c.2281-5C>G
|
rs777654968
|
|
NM_006017.3(PROM1):c.2373+13C>G
|
rs886059199
|
|
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala)
|
rs886059198
|
|
NM_006017.3(PROM1):c.2489+8T>C
|
rs1433533825
|
|
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile)
|
rs534529507
|
|
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn)
|
rs1734560540
|
|
NM_006017.3(PROM1):c.380G>T (p.Gly127Val)
|
rs1733212554
|
|
NM_006269.2(RP1):c.-12-12T>C
|
rs886062988
|
|
NM_006269.2(RP1):c.104C>T (p.Ala35Val)
|
rs1805847793
|
|
NM_006269.2(RP1):c.1280A>C (p.Asn427Thr)
|
rs1331133343
|
|
NM_006269.2(RP1):c.2017A>G (p.Lys673Glu)
|
rs766341403
|
|
NM_006269.2(RP1):c.2239A>G (p.Ser747Gly)
|
rs1806038181
|
|
NM_006269.2(RP1):c.2247C>G (p.Leu749=)
|
rs1330376739
|
|
NM_006269.2(RP1):c.2524G>A (p.Val842Met)
|
rs886062991
|
|
NM_006269.2(RP1):c.2545G>A (p.Gly849Arg)
|
rs1806051809
|
|
NM_006269.2(RP1):c.3034C>T (p.Leu1012=)
|
rs1371672240
|
|
NM_006269.2(RP1):c.3295C>G (p.His1099Asp)
|
rs1806083205
|
|
NM_006269.2(RP1):c.3357T>G (p.Ser1119=)
|
rs1806085195
|
|
NM_006269.2(RP1):c.3796A>C (p.Lys1266Gln)
|
rs1806109030
|
|
NM_006269.2(RP1):c.3870G>T (p.Gln1290His)
|
rs886062993
|
|
NM_006269.2(RP1):c.4379G>T (p.Arg1460Ile)
|
rs758211043
|
|
NM_006269.2(RP1):c.4606C>T (p.Pro1536Ser)
|
rs767248972
|
|
NM_006269.2(RP1):c.4685T>A (p.Met1562Lys)
|
rs774074476
|
|
NM_006269.2(RP1):c.4897G>T (p.Glu1633Ter)
|
rs982929068
|
|
NM_006269.2(RP1):c.5074A>C (p.Met1692Leu)
|
rs886062994
|
|
NM_006269.2(RP1):c.5585G>T (p.Arg1862Ile)
|
rs777277564
|
|
NM_006269.2(RP1):c.578G>C (p.Arg193Pro)
|
rs754949406
|
|
NM_006269.2(RP1):c.5873A>G (p.Tyr1958Cys)
|
rs776604527
|
|
NM_006269.2(RP1):c.6119C>A (p.Ser2040Ter)
|
rs1563333726
|
|
NM_006269.2(RP1):c.6255A>T (p.Gln2085His)
|
rs886062995
|
|
NM_006269.2(RP1):c.6423dup (p.Leu2142fs)
|
rs1563333973
|
|
NM_006269.2(RP1):c.883G>A (p.Val295Ile)
|
rs1321792993
|
|
NM_006343.3(MERTK):c.*57T>A
|
rs886054760
|
|
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe)
|
rs79943145
|
|
NM_006343.3(MERTK):c.1719A>G (p.Leu573=)
|
rs886054758
|
|
NM_006343.3(MERTK):c.1960+8C>T
|
rs112541306
|
|
NM_006343.3(MERTK):c.2081A>G (p.His694Arg)
|
rs886054759
|
|
NM_006343.3(MERTK):c.2135A>G (p.Glu712Gly)
|
rs1677288107
|
|
NM_006343.3(MERTK):c.2467G>C (p.Glu823Gln)
|
rs55924349
|
|
NM_006343.3(MERTK):c.2590G>A (p.Val864Ile)
|
rs557004700
|
|
NM_006343.3(MERTK):c.2590G>T (p.Val864Phe)
|
rs557004700
|
|
NM_006343.3(MERTK):c.27G>A (p.Leu9=)
|
rs1683973924
|
|
NM_006343.3(MERTK):c.2957del (p.Leu986fs)
|
rs763144375
|
|
NM_006343.3(MERTK):c.709C>T (p.Arg237Cys)
|
rs770812369
|
|
NM_006343.3(MERTK):c.756A>C (p.Pro252=)
|
rs3761702
|
|
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu)
|
rs35252762
|
|
NM_006343.3(MERTK):c.782G>C (p.Ser261Thr)
|
rs142284609
|
|
NM_006445.4(PRPF8):c.*36C>T
|
rs776962939
|
|
NM_006445.4(PRPF8):c.*72C>G
|
rs758889910
|
|
NM_006445.4(PRPF8):c.-15T>A
|
rs886052618
|
|
NM_006445.4(PRPF8):c.-34C>T
|
rs886052621
|
|
NM_006445.4(PRPF8):c.-43G>A
|
rs575056329
|
|
NM_006445.4(PRPF8):c.-43G>C
|
rs575056329
|
|
NM_006445.4(PRPF8):c.-4G>T
|
rs886052617
|
|
NM_006445.4(PRPF8):c.-76A>G
|
rs765014520
|
|
NM_006445.4(PRPF8):c.101-8C>T
|
rs369806898
|
|
NM_006445.4(PRPF8):c.1653G>A (p.Leu551=)
|
rs1912753368
|
|
NM_006445.4(PRPF8):c.2680-9G>A
|
rs886052614
|
|
NM_006445.4(PRPF8):c.3061-9T>C
|
rs1912518161
|
|
NM_006445.4(PRPF8):c.3081A>C (p.Ser1027=)
|
rs201573889
|
|
NM_006445.4(PRPF8):c.3081A>T (p.Ser1027=)
|
rs201573889
|
|
NM_006445.4(PRPF8):c.3154G>T (p.Val1052Leu)
|
rs886052613
|
|
NM_006445.4(PRPF8):c.3252C>G (p.Pro1084=)
|
rs746764862
|
|
NM_006445.4(PRPF8):c.3657+9T>C
|
rs886052612
|
|
NM_006445.4(PRPF8):c.3666G>A (p.Lys1222=)
|
rs549397527
|
|
NM_006445.4(PRPF8):c.534T>C (p.Tyr178=)
|
rs886052616
|
|
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys)
|
rs1911322255
|
|
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del)
|
rs1911196248
|
|
NM_006445.4(PRPF8):c.6414G>C (p.Gln2138His)
|
rs1911084608
|
|
NM_006445.4(PRPF8):c.6480_6491del (p.Gly2161_Pro2164del)
|
rs1597224402
|
|
NM_006445.4(PRPF8):c.6565T>C (p.Ser2189Pro)
|
rs929492529
|
|
NM_006445.4(PRPF8):c.6783G>A (p.Met2261Ile)
|
rs886052611
|
|
NM_006445.4(PRPF8):c.6854-14C>A
|
rs573493017
|
|
NM_006445.4(PRPF8):c.6925C>G (p.His2309Asp)
|
rs2151108985
|
|
NM_006445.4(PRPF8):c.867-14A>C
|
rs1912894972
|
|
NM_006445.4(PRPF8):c.926G>A (p.Arg309His)
|
rs775023296
|
|
NM_006899.5(IDH3B):c.1014T>C (p.Leu338=)
|
rs886056569
|
|
NM_006899.5(IDH3B):c.1061A>G (p.Lys354Arg)
|
rs886056568
|
|
NM_006899.5(IDH3B):c.16G>A (p.Gly6Arg)
|
rs760454593
|
|
NM_006899.5(IDH3B):c.522G>T (p.Leu174=)
|
rs778097475
|
|
NM_006899.5(IDH3B):c.706G>C (p.Val236Leu)
|
rs2086919311
|
|
NM_006899.5(IDH3B):c.768+1G>T
|
rs1568548317
|
|
NM_006899.5(IDH3B):c.916-8C>T
|
rs1412842843
|
|
NM_006899.5(IDH3B):c.916G>T (p.Gly306Cys)
|
rs886056571
|
|
NM_006899.5(IDH3B):c.917G>A (p.Gly306Asp)
|
rs886056570
|
|
NM_006915.3(RP2):c.*1098G>A
|
rs181617714
|
|
NM_006915.3(RP2):c.*1447T>C
|
rs1057515894
|
|
NM_006915.3(RP2):c.*1743T>C
|
rs954710371
|
|
NM_006915.3(RP2):c.*33C>G
|
rs201374021
|
|
NM_006915.3(RP2):c.*741C>T
|
rs1925452093
|
|
NM_012469.4(PRPF6):c.*1T>C
|
rs1167495795
|
|
NM_012469.4(PRPF6):c.-107A>G
|
rs2059063858
|
|
NM_012469.4(PRPF6):c.-89C>T
|
rs886056957
|
|
NM_012469.4(PRPF6):c.1100G>A (p.Arg367His)
|
rs886056959
|
|
NM_012469.4(PRPF6):c.1246C>A (p.Pro416Thr)
|
rs952267888
|
|
NM_012469.4(PRPF6):c.1492G>A (p.Gly498Ser)
|
rs886056961
|
|
NM_012469.4(PRPF6):c.1769+8G>A
|
rs1021327099
|
|
NM_012469.4(PRPF6):c.2673+12C>G
|
rs374801637
|
|
NM_012469.4(PRPF6):c.279C>T (p.Pro93=)
|
rs2059086886
|
|
NM_012469.4(PRPF6):c.351A>G (p.Lys117=)
|
rs2059087198
|
|
NM_012469.4(PRPF6):c.57G>A (p.Pro19=)
|
rs779283679
|
|
NM_014014.5(SNRNP200):c.1498C>T (p.Leu500=)
|
rs886056464
|
|
NM_014014.5(SNRNP200):c.1515+11C>A
|
rs780821025
|
|
NM_014014.5(SNRNP200):c.162C>T (p.Asp54=)
|
rs2063976140
|
|
NM_014014.5(SNRNP200):c.2222T>C (p.Met741Thr)
|
rs886056463
|
|
NM_014014.5(SNRNP200):c.2839C>G (p.Pro947Ala)
|
rs886056462
|
|
NM_014014.5(SNRNP200):c.3258+12G>A
|
rs886056461
|
|
NM_014014.5(SNRNP200):c.3454C>T (p.Arg1152Cys)
|
|
|
NM_014014.5(SNRNP200):c.3632A>G (p.Asp1211Gly)
|
rs886056460
|
|
NM_014014.5(SNRNP200):c.3888C>A (p.Pro1296=)
|
rs143175658
|
|
NM_014014.5(SNRNP200):c.4424G>A (p.Arg1475His)
|
rs886056459
|
|
NM_014014.5(SNRNP200):c.4786G>A (p.Asp1596Asn)
|
rs762326859
|
|
NM_014014.5(SNRNP200):c.5104T>C (p.Cys1702Arg)
|
rs1412783475
|
|
NM_014014.5(SNRNP200):c.6037C>T (p.Arg2013Cys)
|
rs935757494
|
|
NM_014014.5(SNRNP200):c.6203T>A (p.Ile2068Asn)
|
rs886056458
|
|
NM_014014.5(SNRNP200):c.631-4A>T
|
rs886056467
|
|
NM_014014.5(SNRNP200):c.808C>A (p.Arg270=)
|
rs886056466
|
|
NM_014014.5(SNRNP200):c.972C>T (p.His324=)
|
rs886056465
|
|
NM_014053.4(FLVCR1):c.1026T>C (p.Gly342=)
|
rs1404200133
|
|
NM_014053.4(FLVCR1):c.806T>C (p.Leu269Pro)
|
rs2102536303
|
|
NM_014249.4(NR2E3):c.*144A>T
|
rs886051454
|
|
NM_014249.4(NR2E3):c.*197T>G
|
rs779157022
|
|
NM_014249.4(NR2E3):c.*330C>G
|
rs2054240984
|
|
NM_014249.4(NR2E3):c.*340G>C
|
rs886051456
|
|
NM_014249.4(NR2E3):c.*400G>C
|
rs2054241697
|
|
NM_014249.4(NR2E3):c.*431C>T
|
rs2054241914
|
|
NM_014249.4(NR2E3):c.*54G>A
|
rs1007200933
|
|
NM_014249.4(NR2E3):c.*554A>C
|
rs886051458
|
|
NM_014249.4(NR2E3):c.-139G>T
|
rs138513681
|
|
NM_014249.4(NR2E3):c.222C>G (p.Ser74Arg)
|
rs767304567
|
|
NM_014249.4(NR2E3):c.24G>A (p.Leu8=)
|
rs2054171622
|
|
NM_014249.4(NR2E3):c.321G>A (p.Lys107=)
|
rs886051450
|
|
NM_014249.4(NR2E3):c.402C>A (p.Ser134Arg)
|
rs886051452
|
|
NM_014249.4(NR2E3):c.838C>G (p.Pro280Ala)
|
rs769154628
|
|
NM_014336.5(AIPL1):c.*1165C>T
|
rs528789571
|
|
NM_014336.5(AIPL1):c.*1335A>C
|
rs886053260
|
|
NM_014336.5(AIPL1):c.*1459G>T
|
rs886053256
|
|
NM_014336.5(AIPL1):c.*148A>C
|
rs79118582
|
|
NM_014336.5(AIPL1):c.*1537C>A
|
rs886053255
|
|
NM_014336.5(AIPL1):c.*164G>A
|
rs1166950496
|
|
NM_014336.5(AIPL1):c.*1679G>C
|
rs886053254
|
|
NM_014336.5(AIPL1):c.*486G>T
|
rs1230088097
|
|
NM_014336.5(AIPL1):c.*564G>A
|
rs1567633310
|
|
NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser)
|
rs201875142
|
|
NM_014336.5(AIPL1):c.73C>A (p.Pro25Thr)
|
rs886053268
|
|
NM_014336.5(AIPL1):c.970C>A (p.Arg324=)
|
rs375096209
|
|
NM_014748.4(SNX17):c.*609C>G
|
rs536704518
|
|
NM_014748.4(SNX17):c.*662C>T
|
rs1004503387
|
|
NM_014989.7(RIMS1):c.3338G>C (p.Arg1113Thr)
|
rs2154175134
|
|
NM_015629.4(PRPF31):c.*152G>T
|
rs62144169
|
|
NM_015629.4(PRPF31):c.*63G>T
|
rs2074046762
|
|
NM_015629.4(PRPF31):c.-32A>C
|
rs886054617
|
|
NM_015629.4(PRPF31):c.1147-5C>G
|
rs587757028
|
|
NM_015629.4(PRPF31):c.1147-9C>G
|
rs655240
|
|
NM_015629.4(PRPF31):c.1222C>T (p.Arg408Trp)
|
rs367896277
|
|
NM_015629.4(PRPF31):c.207G>A (p.Glu69=)
|
rs886054619
|
|
NM_015629.4(PRPF31):c.33C>T (p.Leu11=)
|
rs760236177
|
|
NM_015629.4(PRPF31):c.509C>T (p.Thr170Ile)
|
rs2073843843
|
|
NM_015629.4(PRPF31):c.582G>A (p.Ala194=)
|
rs757374570
|
|
NM_015629.4(PRPF31):c.706G>A (p.Gly236Ser)
|
rs1480395880
|
|
NM_015629.4(PRPF31):c.945+4A>G
|
rs2073928552
|
|
NM_015662.3(IFT172):c.3144_3152del (p.Glu1049_His1051del)
|
rs2148496996
|
|
NM_016247.4(IMPG2):c.*1447C>T
|
rs886057675
|
|
NM_016247.4(IMPG2):c.*1551G>A
|
rs74871601
|
|
NM_016247.4(IMPG2):c.*1554C>T
|
rs73156011
|
|
NM_016247.4(IMPG2):c.*1719A>G
|
rs1706207757
|
|
NM_016247.4(IMPG2):c.*2174C>T
|
rs973772805
|
|
NM_016247.4(IMPG2):c.*2332T>C
|
rs144532789
|
|
NM_016247.4(IMPG2):c.*2435T>C
|
rs772636319
|
|
NM_016247.4(IMPG2):c.*2612T>A
|
rs886057671
|
|
NM_016247.4(IMPG2):c.*2790G>T
|
rs886057670
|
|
NM_016247.4(IMPG2):c.*2838G>C
|
rs1304041280
|
|
NM_016247.4(IMPG2):c.*3103G>T
|
rs566200595
|
|
NM_016247.4(IMPG2):c.*3599A>G
|
rs886057668
|
|
NM_016247.4(IMPG2):c.*3619C>A
|
rs886057667
|
|
NM_016247.4(IMPG2):c.*3624T>G
|
rs1706185575
|
|
NM_016247.4(IMPG2):c.*3658C>T
|
rs1706185172
|
|
NM_016247.4(IMPG2):c.*368G>A
|
rs568108242
|
|
NM_016247.4(IMPG2):c.*4108G>C
|
rs886057664
|
|
NM_016247.4(IMPG2):c.*4143A>G
|
rs938158679
|
|
NM_016247.4(IMPG2):c.*563G>T
|
rs1576740618
|
|
NM_016247.4(IMPG2):c.*569G>C
|
rs1381026736
|
|
NM_016247.4(IMPG2):c.*874T>C
|
rs1706218494
|
|
NM_016247.4(IMPG2):c.*898T>G
|
rs1706218125
|
|
NM_016247.4(IMPG2):c.*944A>G
|
rs1706217782
|
|
NM_016247.4(IMPG2):c.1187T>C (p.Leu396Pro)
|
rs773850021
|
|
NM_016247.4(IMPG2):c.1319G>A (p.Gly440Asp)
|
rs886057688
|
|
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs)
|
rs1559643320
|
|
NM_016247.4(IMPG2):c.1579T>G (p.Ser527Ala)
|
rs1706457755
|
|
NM_016247.4(IMPG2):c.1763A>C (p.Asp588Ala)
|
rs746692897
|
|
NM_016247.4(IMPG2):c.2028T>G (p.Phe676Leu)
|
rs780140167
|
|
NM_016247.4(IMPG2):c.2524C>A (p.Leu842Met)
|
rs149896250
|
|
NM_016247.4(IMPG2):c.2771A>G (p.Tyr924Cys)
|
|
|
NM_016247.4(IMPG2):c.3126C>T (p.Tyr1042=)
|
rs1229588861
|
|
NM_016247.4(IMPG2):c.3400A>G (p.Ser1134Gly)
|
rs765312212
|
|
NM_016247.4(IMPG2):c.34C>G (p.Leu12Val)
|
rs886057689
|
|
NM_016247.4(IMPG2):c.3633+1G>A
|
rs886057685
|
|
NM_016247.4(IMPG2):c.874G>A (p.Val292Ile)
|
rs1706755411
|
|
NM_016247.4(IMPG2):c.937T>C (p.Phe313Leu)
|
rs1186127121
|
|
NM_016247.4(IMPG2):c.989C>G (p.Ser330Cys)
|
rs1706626237
|
|
NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del)
|
rs2148194204
|
|
NM_018418.5(SPATA7):c.-32G>T
|
rs200780988
|
|
NM_018418.5(SPATA7):c.-62G>A
|
rs886050872
|
|
NM_018418.5(SPATA7):c.1144G>T (p.Gly382Cys)
|
rs776604824
|
|
NM_018418.5(SPATA7):c.1220A>T (p.Lys407Ile)
|
rs886050873
|
|
NM_018418.5(SPATA7):c.1236G>A (p.Leu412=)
|
rs2077132550
|
|
NM_018418.5(SPATA7):c.1283T>G (p.Val428Gly)
|
rs1203146338
|
|
NM_018418.5(SPATA7):c.1611T>C (p.Ser537=)
|
rs1399885444
|
|
NM_018418.5(SPATA7):c.1683A>G (p.Thr561=)
|
rs886050875
|
|
NM_018418.5(SPATA7):c.57G>A (p.Pro19=)
|
rs367830780
|
|
NM_018418.5(SPATA7):c.57G>T (p.Pro19=)
|
rs367830780
|
|
NM_018418.5(SPATA7):c.605G>A (p.Arg202Lys)
|
rs2076795225
|
|
NM_018418.5(SPATA7):c.654G>T (p.Ser218=)
|
rs1566779741
|
|
NM_020184.4(CNNM4):c.731G>T (p.Cys244Phe)
|
rs1300890772
|
|
NM_022367.4(SEMA4A):c.*181C>T
|
rs886045368
|
|
NM_022367.4(SEMA4A):c.*334C>T
|
rs148852472
|
|
NM_022367.4(SEMA4A):c.*371T>C
|
rs886045369
|
|
NM_022367.4(SEMA4A):c.*485G>A
|
rs542774465
|
|
NM_022367.4(SEMA4A):c.*687T>A
|
rs755447780
|
|
NM_022367.4(SEMA4A):c.*711A>C
|
rs886045371
|
|
NM_022367.4(SEMA4A):c.1258G>A (p.Val420Met)
|
rs1654945793
|
|
NM_022367.4(SEMA4A):c.1337C>T (p.Ala446Val)
|
rs886045366
|
|
NM_022367.4(SEMA4A):c.2114C>T (p.Ser705Phe)
|
rs1655387711
|
|
NM_022367.4(SEMA4A):c.2134G>A (p.Ala712Thr)
|
rs772819214
|
|
NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser)
|
rs199933282
|
|
NM_022367.4(SEMA4A):c.810+7G>A
|
rs568949451
|
|
NM_022367.4(SEMA4A):c.937G>T (p.Asp313Tyr)
|
rs1461418667
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.4705-2A>C
|
rs2137170380
|
|
NM_031885.5(BBS2):c.851A>T (p.Asn284Ile)
|
rs377749641
|
|
NM_031885.5(BBS2):c.940+3A>C
|
rs2144150079
|
|
NM_032119.4(ADGRV1):c.10558C>T (p.Leu3520Phe)
|
rs1561644399
|
|
NM_032180.2(FAM161A):c.-81A>T
|
rs1234376053
|
|
NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
|
NM_033100.4(CDHR1):c.1367C>A (p.Ala456Glu)
|
rs142742994
|
|
NM_033100.4(CDHR1):c.1463G>A (p.Gly488Asp)
|
rs1842323988
|
|
NM_130837.3(OPA1):c.1976A>T (p.Glu659Val)
|
|
|
NM_144499.3(GNAT1):c.508G>T (p.Val170Leu)
|
rs149647295
|
|
NM_144596.4(TTC8):c.*17A>G
|
rs1164204068
|
|
NM_144596.4(TTC8):c.*377C>T
|
rs1395639006
|
|
NM_144596.4(TTC8):c.*418G>A
|
rs2094963356
|
|
NM_144596.4(TTC8):c.*45A>C
|
rs1273103151
|
|
NM_144596.4(TTC8):c.-38C>A
|
rs886050876
|
|
NM_144596.4(TTC8):c.-44C>T
|
rs571786285
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_144596.4(TTC8):c.1491C>T (p.Asp497=)
|
rs886050878
|
|
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile)
|
rs1341297017
|
|
NM_144596.4(TTC8):c.417C>G (p.Ile139Met)
|
rs2094779029
|
|
NM_144631.6(ZNF513):c.-103G>A
|
rs552236644
|
|
NM_144631.6(ZNF513):c.377C>T (p.Pro126Leu)
|
rs776689084
|
|
NM_144631.6(ZNF513):c.556G>A (p.Ala186Thr)
|
rs886055908
|
|
NM_144631.6(ZNF513):c.605G>T (p.Gly202Val)
|
rs886055907
|
|
NM_144631.6(ZNF513):c.739C>G (p.Arg247Gly)
|
rs779441909
|
|
NM_152443.3(RDH12):c.*201C>T
|
rs886050644
|
|
NM_152443.3(RDH12):c.*230A>C
|
rs1453421086
|
|
NM_152443.3(RDH12):c.*27G>A
|
rs886050642
|
|
NM_152443.3(RDH12):c.*387T>C
|
rs2038324671
|
|
NM_152443.3(RDH12):c.*476C>A
|
rs541626452
|
|
NM_152443.3(RDH12):c.-114G>A
|
rs1003356344
|
|
NM_152443.3(RDH12):c.-121G>A
|
rs886050641
|
|
NM_152443.3(RDH12):c.-253G>A
|
rs886050639
|
|
NM_152443.3(RDH12):c.152T>C (p.Ile51Thr)
|
rs104894473
|
|
NM_152443.3(RDH12):c.697G>T (p.Val233Phe)
|
rs140257538
|
|
NM_152443.3(RDH12):c.719A>G (p.His240Arg)
|
rs1594867476
|
|
NM_152443.3(RDH12):c.731T>C (p.Leu244Pro)
|
rs781099767
|
|
NM_177965.4(CFAP418):c.*1151A>G
|
rs374730084
|
|
NM_177965.4(CFAP418):c.*155G>T
|
rs1811639972
|
|
NM_177965.4(CFAP418):c.*1607T>C
|
rs1811615650
|
|
NM_177965.4(CFAP418):c.*1628A>T
|
rs937969592
|
|
NM_177965.4(CFAP418):c.*1687T>A
|
rs886063191
|
|
NM_177965.4(CFAP418):c.*1904G>A
|
rs929327663
|
|
NM_177965.4(CFAP418):c.*2017C>G
|
rs550269782
|
|
NM_177965.4(CFAP418):c.*2212C>G
|
rs79305170
|
|
NM_177965.4(CFAP418):c.*2212C>T
|
rs79305170
|
|
NM_177965.4(CFAP418):c.*249T>C
|
rs949281785
|
|
NM_177965.4(CFAP418):c.*863C>T
|
rs997427905
|
|
NM_177965.4(CFAP418):c.*944A>C
|
rs886063194
|
|
NM_177965.4(CFAP418):c.*965C>G
|
rs886063193
|
|
NM_177965.4(CFAP418):c.-5T>C
|
rs886063195
|
|
NM_177965.4(CFAP418):c.15G>A (p.Leu5=)
|
rs1308193454
|
|
NM_177965.4(CFAP418):c.3G>A (p.Met1Ile)
|
rs1249678588
|
|
NM_177965.4(CFAP418):c.498A>G (p.Leu166=)
|
rs1811644695
|
|
NM_177965.4(CFAP418):c.598C>A (p.Leu200Ile)
|
rs1332256474
|
|
NM_177976.3(ARL6):c.-371A>G
|
rs754624462
|
|
NM_182894.3(VSX2):c.455G>A (p.Arg152Lys)
|
rs1566883262
|
|
NM_201253.2(CRB1):c.-204C>T
|
rs544047392
|
|
NM_201253.3(CRB1):c.*81C>A
|
rs192819758
|
|
NM_201253.3(CRB1):c.*99G>T
|
rs1429931885
|
|
NM_201253.3(CRB1):c.-56C>G
|
rs1654712316
|
|
NM_201253.3(CRB1):c.1878T>C (p.Ala626=)
|
rs1413323140
|
|
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)
|
rs1204363918
|
|
NM_201253.3(CRB1):c.222C>G (p.Cys74Trp)
|
rs772819260
|
|
NM_201253.3(CRB1):c.2863A>C (p.Asn955His)
|
rs886045785
|
|
NM_201253.3(CRB1):c.2917C>G (p.Leu973Val)
|
rs886045786
|
|
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn)
|
rs886045783
|
|
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr)
|
rs767920858
|
|
NM_201253.3(CRB1):c.4219T>A (p.Ter1407Lys)
|
rs1667270315
|
|
NM_201253.3(CRB1):c.508T>C (p.Tyr170His)
|
rs1571848981
|
|
NM_201253.3(CRB1):c.98G>A (p.Arg33Lys)
|
rs1658648856
|
|
NM_201548.5(CERKL):c.*1058T>G
|
rs200646302
|
|
NM_201548.5(CERKL):c.*237G>A
|
rs758328553
|
|
NM_201548.5(CERKL):c.*25G>T
|
rs368851275
|
|
NM_201548.5(CERKL):c.*77G>T
|
rs1574424314
|
|
NM_201548.5(CERKL):c.*780T>C
|
rs886055315
|
|
NM_201548.5(CERKL):c.1086_1087del (p.Cys362_Glu363delinsTer)
|
rs776727320
|
|
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp)
|
rs727503857
|
|
NM_201548.5(CERKL):c.1539-5T>A
|
rs371788033
|
|
NM_201548.5(CERKL):c.180C>T (p.Asp60=)
|
rs1688188231
|
|
NM_201548.5(CERKL):c.356del (p.Gly119fs)
|
rs1559100189
|
|
NM_201548.5(CERKL):c.454T>C (p.Phe152Leu)
|
rs886055318
|
|
NM_201548.5(CERKL):c.608T>G (p.Val203Gly)
|
rs1689008063
|
|
NM_203288.2(RP9):c.32G>A (p.Gly11Glu)
|
rs575755283
|
|
NM_203288.2(RP9):c.584A>T (p.Lys195Met)
|
rs1788315155
|
|
NM_205861.3(DHDDS):c.*1261C>T
|
rs993797663
|
|
NM_205861.3(DHDDS):c.*1431C>T
|
rs867968139
|
|
NM_205861.3(DHDDS):c.*1574C>T
|
rs2075546722
|
|
NM_205861.3(DHDDS):c.*2069A>G
|
rs573602803
|
|
NM_205861.3(DHDDS):c.*226C>G
|
rs2075529207
|
|
NM_205861.3(DHDDS):c.*55C>T
|
rs1057515504
|
|
NM_205861.3(DHDDS):c.*573C>T
|
rs539236177
|
|
NM_205861.3(DHDDS):c.*634G>A
|
rs911133080
|
|
NM_205861.3(DHDDS):c.*769G>T
|
rs80313266
|
|
NM_205861.3(DHDDS):c.-37G>A
|
rs2075117953
|
|
NM_205861.3(DHDDS):c.157C>G (p.Gln53Glu)
|
rs1057515434
|
|
NM_205861.3(DHDDS):c.710T>G (p.Phe237Cys)
|
rs1057515468
|
|
NM_205861.3(DHDDS):c.775G>A (p.Asp259Asn)
|
rs1057515435
|
|
NM_205861.3(DHDDS):c.845T>C (p.Leu282Pro)
|
rs775810457
|
|
NM_205861.3(DHDDS):c.855G>T (p.Gly285=)
|
rs928446379
|
|
NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro)
|
rs778103040
|
|
NM_206933.4(USH2A):c.-159G>C
|
rs886045955
|
|
NM_206933.4(USH2A):c.-181C>T
|
rs866904288
|
|
NM_206933.4(USH2A):c.-289C>A
|
rs886045956
|
|
NM_206933.4(USH2A):c.-289C>T
|
rs886045956
|
|
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
|
rs1241034250
|
|
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)
|
rs144560419
|
|
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter)
|
rs1553257498
|
|
NM_206933.4(USH2A):c.12695C>A (p.Pro4232Gln)
|
rs745371873
|
|
NM_206933.4(USH2A):c.13123T>G (p.Cys4375Gly)
|
rs1558048384
|
|
NM_206933.4(USH2A):c.1327A>G (p.Asn443Asp)
|
rs775075026
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.1363A>G (p.Ser455Gly)
|
rs866877329
|
|
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu)
|
rs2037663922
|
|
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)
|
rs111033273
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala)
|
rs754932972
|
|
NM_206933.4(USH2A):c.3660A>G (p.Val1220=)
|
rs2034940102
|
|
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu)
|
rs886045954
|
|
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln)
|
rs372993160
|
|
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)
|
rs372993160
|
|
NM_206933.4(USH2A):c.4276G>A (p.Glu1426Lys)
|
rs886045952
|
|
NM_206933.4(USH2A):c.4349T>C (p.Val1450Ala)
|
rs886045951
|
|
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser)
|
rs2034687815
|
|
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr)
|
rs369357349
|
|
NM_206933.4(USH2A):c.4627+1091T>C
|
rs886045945
|
|
NM_206933.4(USH2A):c.4627+28A>G
|
rs773190850
|
|
NM_206933.4(USH2A):c.4627+330A>G
|
rs886045949
|
|
NM_206933.4(USH2A):c.4627+343A>G
|
rs2034344204
|
|
NM_206933.4(USH2A):c.4627+36C>T
|
rs577393945
|
|
NM_206933.4(USH2A):c.4627+442C>G
|
rs1037400670
|
|
NM_206933.4(USH2A):c.4627+48A>T
|
rs74874838
|
|
NM_206933.4(USH2A):c.4627+512G>A
|
rs2034341678
|
|
NM_206933.4(USH2A):c.4627+589C>A
|
rs886045948
|
|
NM_206933.4(USH2A):c.4627+813C>T
|
rs192047831
|
|
NM_206933.4(USH2A):c.4627+974T>C
|
rs2034329165
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.5074G>T (p.Asp1692Tyr)
|
rs1571948108
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)
|
rs768233523
|
|
NM_206933.4(USH2A):c.637C>T (p.His213Tyr)
|
rs2039613657
|
|
NM_206933.4(USH2A):c.651+15A>G
|
rs765252898
|
|
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)
|
rs201526850
|
|
NM_206933.4(USH2A):c.672C>A (p.Ser224Arg)
|
rs1571744237
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)
|
rs1188281491
|
|
NM_206933.4(USH2A):c.8395G>T (p.Gly2799Cys)
|
rs1026326311
|
|
NM_206933.4(USH2A):c.841A>C (p.Thr281Pro)
|
rs2037760472
|
|
NM_206933.4(USH2A):c.849-4A>G
|
rs765189933
|
|
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)
|
rs773379163
|
|
NM_206933.4(USH2A):c.9503G>T (p.Cys3168Phe)
|
rs746007103
|
|
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln)
|
rs760741238
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|