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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4570
    • SNVs : 3402
    • InDels : 1168
    • Last Update : 10/10/2017

    Browse all variants in RetinoGenetics


    View by chromosome : All( 1  2  3  4  5  6  7  8  9  10  11  12  13  14  15  16  17  18  19  20  21  22  X  Y  All )


    View by region : All ( exonic  intronic  5-UTR  3-UTR  splicing  intergenic  upstream  downstream  All )


    View by mutation type : All ( SNV  deletion  insertion  All )


    View by effect : All ( nonsynonymous  synonymous  frameshift  stoploss  stopgain  unknown  All )


    View by gene system : All ( Reference  Known  Encode  Ensembl  CCDS  All )


    Totally 4572 records.                                                                                                                                                                                                        Download xls file

    Gene symbol Disease Gene region Transcript ID Exon number Mutation type Effect RetinoGenetics ID
    COL2A1 Stickler syndrome exonic NM_001844 exon8 SNV stopgain RetinalMD_04271
    COL2A1 Stickler syndrome exonic NM_001844 exon8 SNV frameshift deletion RetinalMD_04272
    COL2A1 Stickler syndrome exonic NM_001844 exon26 SNV stopgain RetinalMD_04273
    COL2A1 Stickler syndrome exonic NM_001844 exon26 SNV nonsynonymous SNV RetinalMD_04274
    COL2A1 Stickler syndrome exonic NM_001844 exon27 deletion frameshift deletion RetinalMD_04275
    COL2A1 Stickler syndrome exonic NM_001844 exon35 SNV nonsynonymous SNV RetinalMD_04276
    COL2A1 Stickler syndrome exonic NM_001844 exon38 deletion frameshift deletion RetinalMD_04277
    COL2A1 Stickler syndrome exonic NM_001844 exon50 SNV stopgain RetinalMD_04278
    COL2A1 Stickler syndrome exonic NM_001844 exon50 SNV nonsynonymous SNV RetinalMD_04279
    DRAM2 retinal dystrophy with early macular involvement exonic NM_178454.4 exon4 deletion frameshift deletion RetinalMD_04280
    DRAM2 retinal dystrophy with early macular involvement exonic NM_178454.4 exon6 SNV stopgain RetinalMD_04281
    DRAM2 retinal dystrophy with early macular involvement exonic NM_178454.4 exon3 SNV nonsynonymous SNV RetinalMD_04282
    DRAM2 retinal dystrophy with early macular involvement exonic NM_178454.4 exon3 deletion nonframeshift deletion RetinalMD_04283
    DRAM2 retinal dystrophy with early macular involvement exonic NM_178454.4 exon6 SNV nonsynonymous SNV RetinalMD_04284
    DRAM2 retinal dystrophy with early macular involvement exonic NM_178454.4 exon3 SNV nonsynonymous SNV RetinalMD_04285
    DRAM2 retinal dystrophy with early macular involvement - NM_178454.4 exon5 deletion - RetinalMD_04286
    NEK2 retinitis pigmentosa??AR exonic NM_001204183 exon4 SNV frameshift deletion RetinalMD_04287
    OR2W3 retinitis pigmentosa??AD exonic NM_001001957 exon1 SNV nonsynonymous SNV RetinalMD_04288
    ATF6 Photoreceptor Degeneration With Macular Involvement exonic NM_007348 exon9 SNV stopgain RetinalMD_04289
    ATF6 Photoreceptor Degeneration With Macular Involvement exonic NM_007348 exon13 SNV nonsynonymous SNV RetinalMD_04290
    ATF6 autosomal recessive achromatopsia exonic NM_007348 exon5 SNV frameshift deletion RetinalMD_04291
    NEUROD1 retinitis pigmentosa??AR exonic NM_002500 exon2 SNV nonsynonymous SNV RetinalMD_04292
    KCNJ13 Leber congenital amaurosis exonic NM_002242.4 exon2 SNV stopgain RetinalMD_04293
    KCNJ13 vitreo-retinal dystrophy with early-onset cataract itreo-retinal dystrophy with early-onset catarac exonic NM_002242.4 exon2 SNV nonsynonymous SNV RetinalMD_04294
    KCNJ13 Leber congenital amaurosis exonic NM_002242.4 exon2 SNV nonsynonymous SNV RetinalMD_04295
    KCNJ13 Leber congenital amaurosis exonic NM_002242.4 exon3 SNV nonsynonymous SNV RetinalMD_04296
    KCNJ13 retinitis pigmentosa??AR exonic NM_002242.4 exon3 SNV nonsynonymous SNV RetinalMD_04297
    KCNJ13 retinitis pigmentosa??AR exonic NM_002242.4 exon3 SNV nonsynonymous SNV RetinalMD_04298
    KCNJ13 Snowflake vitreoretinal degeneration exonic NM_002242.4 exon3 SNV nonsynonymous SNV RetinalMD_04299
    SPP2 retinitis pigmentosa??AD exonic NM_002242.4 exon3 SNV nonsynonymous SNV RetinalMD_04300
    SLC7A14 retinitis pigmentosa??AR exonic NM_020949 exon6 SNV nonsynonymous SNV RetinalMD_04301
    SLC7A14 retinitis pigmentosa??AR exonic NM_020949 exon7 SNV nonsynonymous SNV RetinalMD_04302
    SLC7A14 retinitis pigmentosa??AR exonic NM_020949 exon8 SNV nonsynonymous SNV RetinalMD_04303
    SLC7A14 retinitis pigmentosa??AR exonic NM_020949 exon8 SNV nonsynonymous SNV RetinalMD_04304
    SLC7A14 retinitis pigmentosa??AR exonic NM_020949 exon3 SNV nonsynonymous SNV RetinalMD_04305
    SLC7A14 retinitis pigmentosa??AR exonic NM_020949 exon6 SNV nonsynonymous SNV RetinalMD_04306
    SLC7A14 retinitis pigmentosa??AR exonic NM_020949 exon4 SNV nonsynonymous SNV RetinalMD_04307
    SLC7A14 retinitis pigmentosa??AR exonic NM_020949 exon7 SNV nonsynonymous SNV RetinalMD_04308
    PCYT1A Cone-Rod Dystrophy exonic NM_005017 exon5 SNV nonsynonymous SNV RetinalMD_04309
    PCYT1A Cone-Rod Dystrophy exonic NM_005017 exon6 SNV nonsynonymous SNV RetinalMD_04310
    HMX1 early-onset retinal dystrophy exonic NM_018942 exon2 SNV nonsynonymous SNV RetinalMD_04311
    LRIT3 Congenital stationary night blindness exonic NM_198506.3 exon4 SNV nonsynonymous SNV RetinalMD_04312
    LRIT3 Congenital stationary night blindness exonic NM_198506.3 exon4 SNV nonsynonymous SNV RetinalMD_04313
    LRIT3 Congenital stationary night blindness exonic NM_198506.3 exon4 SNV synonymous SNV RetinalMD_04314
    LRIT3 Congenital stationary night blindness exonic NM_198506.3 exon4 deletion frameshift deletion RetinalMD_04315
    PLK4 Retinopathy, deafness exonic NM_014264 exon5 deletion frameshift deletion RetinalMD_04316
    ABCA4 Stargardt disease exonic NM_000350.2 exon13 SNV nonsynonymous SNV RetinalMD_04317
    ABCA4 Stargardt disease exonic NM_000350.2 exon36 SNV stopgain RetinalMD_04318
    ABCA4 Stargardt disease exonic NM_000350.2 exon6 SNV nonsynonymous SNV RetinalMD_04319
    ABCA4 Stargardt disease exonic NM_000350.2 exon17 SNV stopgain RetinalMD_04320
    ABCA4 cone and cone-rod dystrophy exonic NM_000350.2 exon47 SNV nonsynonymous SNV RetinalMD_04321
    ABCA4 cone and cone-rod dystrophy exonic NM_000350.2 exon13 SNV nonsynonymous SNV RetinalMD_04322
    ABCA4 cone and cone-rod dystrophy exonic NM_000350.2 exon12 SNV nonsynonymous SNV RetinalMD_04323
    ABCA4 cone and cone-rod dystrophy exonic NM_000350.2 exon34 SNV nonsynonymous SNV RetinalMD_04324
    ABCA4 cone and cone-rod dystrophy exonic NM_000350.2 exon10 deletion frameshift deletion RetinalMD_04325
    ABCA4 cone and cone-rod dystrophy exonic NM_000350.2 exon25 SNV nonsynonymous SNV RetinalMD_04326
    AIPL1 cone and cone-rod dystrophy exonic NM_014336.4 exon4 SNV nonsynonymous SNV RetinalMD_04327
    AIPL1 cone and cone-rod dystrophy exonic NM_014336.4 exon4 SNV nonsynonymous SNV RetinalMD_04328
    C8orf37 arRP and arCRD exonic NM_177965 exon3 SNV nonsynonymous SNV RetinalMD_04329
    CDHR1 cone and cone-rod dystrophy exonic NM_033100.3 exon5 SNV nonsynonymous SNV RetinalMD_04330
    CRB1 arRP and arLCA exonic NM_201253.2 exon7 SNV nonsynonymous SNV RetinalMD_04331
    CRB1 arRP and arLCA exonic NM_201253.2 exon5 SNV nonsynonymous SNV RetinalMD_04332
    CRX cone and cone-rod dystrophy exonic NM_000554.4 exon4 deletion frameshift deletion RetinalMD_04333
    EYS Retinitis pigmentosaAR exonic NM_001142800.1 exon7 deletion synonymous SNV RetinalMD_04334
    EYS Retinitis pigmentosaAR exonic NM_001142800.1 exon42 SNV stopgain RetinalMD_04335
    GUCA1B autosomal dominant RP exonic NM_002098.5 exon1 SNV nonsynonymous SNV RetinalMD_04336
    IMPDH1 autosomal dominant RP exonic NM_000883.3 exon6 SNV nonsynonymous SNV RetinalMD_04337
    NMNAT1 Leber congenital amaurosis exonic NM_022787.3 exon3 SNV nonsynonymous SNV RetinalMD_04338
    PDE6C cone and cone-rod dystrophy exonic NM_006204.3 exon2 deletion frameshift deletion RetinalMD_04339
    PDE6C cone and cone-rod dystrophy exonic NM_006204.3 exon11 SNV nonsynonymous SNV RetinalMD_04340
    PROM1 arRP and arCRD exonic NM_006017.2 exon3 SNV stopgain RetinalMD_04341
    PROM1 cone and cone-rod dystrophy exonic NM_006017.2 exon4 SNV nonsynonymous SNV RetinalMD_04342
    PROM1 cone and cone-rod dystrophy exonic NM_006017.2 exon1 SNV frameshift deletion RetinalMD_04343
    PROM1 cone and cone-rod dystrophy exonic NM_006017.2 exon23 SNV nonsynonymous SNV RetinalMD_04344
    PROM1 cone and cone-rod dystrophy exonic NM_006017.2 exon13 SNV synonymous SNV RetinalMD_04345
    PRPF31 autosomal dominant RP exonic NM_015629.3 exon9 insertion frameshift deletion RetinalMD_04346
    PRPH2 macular disease exonic NM_000322.4 exon1 SNV frameshift deletion RetinalMD_04347
    PRPH2 autosomal dominant RP exonic NM_000322.4 exon1 SNV nonsynonymous SNV RetinalMD_04348
    RAB28 cone-rod dystrophy exonic NM_001017979.2 exon3 SNV nonsynonymous SNV RetinalMD_04349
    RAB28 cone-rod dystrophy exonic NM_001017979.2 exon7 SNV nonsynonymous SNV RetinalMD_04350
    RHO autosomal dominant RP exonic NM_000539.3 exon4 SNV nonsynonymous SNV RetinalMD_04351
    RP1 autosomal dominant RP exonic NM_006269.1 exon4 SNV stopgain RetinalMD_04352
    RP1 autosomal dominant RP exonic NM_006269.1 exon4 deletion frameshift deletion RetinalMD_04353
    RP1 autosomal dominant RP exonic NM_006269.1 exon4 deletion stopgain RetinalMD_04354
    RP1 autosomal dominant RP exonic NM_006269.1 exon4 SNV nonsynonymous SNV RetinalMD_04355
    RP2 Retinitis pigmentosaXL exonic NM_006915.2 - deletion - RetinalMD_04356
    RP2 autosomal dominant RP exonic NM_006915.2 - deletion - RetinalMD_04357
    RP2 retinitis pigmentosa with maculopathy splicing NM_006915.2 - SNV - RetinalMD_04358
    RPGR autosomal dominant RP intergenic NM_000328.2 - SNV - RetinalMD_04359
    RPGRIP1 cone and cone-rod dystrophy exonic NM_020366.3 exon14 SNV nonsynonymous SNV RetinalMD_04360
    SEMA4A cone and cone-rod dystrophy exonic NM_022367.3 exon3 SNV nonsynonymous SNV RetinalMD_04361
    SEMA4A cone and cone-rod dystrophy exonic NM_022367.3 exon3 SNV stopgain RetinalMD_04362
    USH2A Retinitis pigmentosaAR exonic NM_206933.2 exon4 SNV nonsynonymous SNV RetinalMD_04363
    USH2A retinitis pigmentosa exonic NM_206933.2 exon63 SNV nonsynonymous SNV RetinalMD_04364
    CRB1 Leber congenital amaurosis exonic NM_201253.2 exon9 SNV nonsynonymous SNV RetinalMD_04365
    CRB1 retinitis pigmentosa exonic NM_201253.2 exon12 SNV nonsynonymous SNV RetinalMD_04366
    CRB1 early onset retinal dystrophy exonic NM_201253.2 exon2 deletion frameshift deletion RetinalMD_04367
    CRB1 early-onset retinal dystrophy exonic NM_201253.2 exon6 SNV nonsynonymous SNV RetinalMD_04368
    CRB1 early-onset retinal dystrophy exonic NM_201253.2 exon9 SNV nonsynonymous SNV RetinalMD_04369
    CRB1 early-onset retinal dystrophy exonic NM_201253.2 exon9 SNV nonsynonymous SNV RetinalMD_04370
    CRB1 early-onset retinal dystrophy exonic NM_201253.2 exon11 SNV nonsynonymous SNV RetinalMD_04371
    CRB1 early-onset retinal dystrophy exonic NM_201253.2 exon12 SNV frameshift substitution RetinalMD_04372
    CRB1 Leber congenital amaurosis exonic NM_201253.2 exon12 SNV nonsynonymous SNV RetinalMD_04373
    CRB1 retinitis pigmentosa exonic NM_201253.2 exon9 deletion frameshift deletion RetinalMD_04374
    PDE6B Retinitis Pigmentosa exonic NM_001145291 exon13 SNV nonsynonymous SNV RetinalMD_04375
    ABCA4 Stargardt disease exonic NM_000350.2 exon13 SNV synonymous SNV RetinalMD_04376
    AIPL1 Leber congenital amaurosis exonic NM_014336.4 exon2 SNV stopgain RetinalMD_04377
    AIPL1 Leber congenital amaurosis exonic NM_014336.4 - deletion - RetinalMD_04378
    CDH23 Usher syndrome type I exonic NM_052836 exon7 SNV nonsynonymous SNV RetinalMD_04379
    CDH23 Usher syndrome type I upstream NM_001171933 - SNV - RetinalMD_04380
    CEP290 Leber congenital amaurosis intronic ENST00000309041 - deletion - RetinalMD_04381
    CNGA1 retinitis pigmentosa exonic ENST00000544810 - SNV nonsynonymous SNV RetinalMD_04382
    CNGB1 retinitis pigmentosa exonic NM_001297 exon25 SNV nonsynonymous SNV RetinalMD_04383
    CRB1 Leber congenital amaurosis exonic NM_201253.2 exon7 SNV stopgain RetinalMD_04384
    ADGRV1 Usher syndrome type II exonic NM_032119 exon74 deletion frameshift deletion RetinalMD_04385
    GUCY2D Leber congenital amaurosis exonic NM_000180 exon3 deletion frameshift deletion RetinalMD_04386
    GUCY2D Leber congenital amaurosis exonic NM_000180 exon12 deletion frameshift deletion RetinalMD_04387
    IQCB1 Leber congenital amaurosis exonic NM_001023570 exon13 SNV synonymous SNV RetinalMD_04388
    MERTK arRP exonic NM_006343 exon4 SNV stopgain RetinalMD_04389
    MYO7A Usher syndrome exonic NM_000260 exon33 SNV stopgain RetinalMD_04390
    MYO7A Usher syndrome type I exonic NM_000260 exon5 SNV stopgain RetinalMD_04391
    PCDH15 Usher syndrome type I exonic NM_001142772 - deletion frameshift deletion RetinalMD_04392
    PCDH15 Usher syndrome type I exonic NM_001142772 - SNV - RetinalMD_04393
    RHO adRP exonic NM_000539 exon3 SNV nonsynonymous SNV RetinalMD_04394
    RPGR XL-RP exonic NM_001034853 - SNV - RetinalMD_04395
    SPATA7 Leber congenital amaurosis exonic NM_018418 exon7 SNV nonsynonymous SNV RetinalMD_04396
    USH1C Usher syndrome exonic NM_153676 exon12 deletion frameshift deletion RetinalMD_04397
    USH1G Usher syndrome type I exonic NM_173477 exon2 SNV synonymous SNV RetinalMD_04398
    USH2A Usher syndrome type II exonic NM_206933.2 exon42 SNV nonsynonymous SNV RetinalMD_04399
    USH2A Usher syndrome type II exonic NM_206933.2 exon63 SNV nonframeshift substitution RetinalMD_04400
    USH2A USHER2 exonic NM_206933.2 exon12 SNV nonsynonymous SNV RetinalMD_04401
    USH2A Usher syndrome type II exonic NM_206933.2 exon50 deletion frameshift deletion RetinalMD_04402
    USH2A Usher syndrome type II exonic NM_206933.2 exon27 deletion frameshift deletion RetinalMD_04403
    USH2A Usher syndrome type II exonic NM_206933.2 exon25 SNV nonsynonymous SNV RetinalMD_04404
    USH2A Usher syndrome type II exonic NM_206933.2 exon10 SNV synonymous SNV RetinalMD_04405
    USH2A Usher syndrome type II exonic NM_206933.2 exon63 SNV nonsynonymous SNV RetinalMD_04406
    USH2A Usher syndrome type II exonic NM_206933.2 exon30 deletion frameshift deletion RetinalMD_04407
    USH2A Usher syndrome exonic NM_206933.2 exon63 SNV synonymous SNV RetinalMD_04408
    USH2A Usher syndrome exonic NM_206933.2 exon21 SNV nonsynonymous SNV RetinalMD_04409
    USH2A Usher syndrome exonic NM_206933.2 exon70 deletion frameshift deletion RetinalMD_04410
    USH2A Usher syndrome exonic NM_206933.2 - SNV - RetinalMD_04411
    USH2A Usher syndrome type II exonic NM_206933.2 exon61 deletion frameshift deletion RetinalMD_04412
    USH2A Usher syndrome type II exonic NM_206933.2 exon3 insertion frameshift insertion RetinalMD_04413
    USH2A Usher syndrome type II exonic NM_206933.2 exon64 insertion frameshift insertion RetinalMD_04414
    USH2A Usher syndrome type II exonic NM_206933.2 exon65 SNV nonsynonymous SNV RetinalMD_04415
    USH2A Usher syndrome type II exonic NM_206933.2 exon66 SNV synonymous SNV RetinalMD_04416
    USH2A Usher syndrome type II exonic NM_206933.2 exon43 SNV nonsynonymous SNV RetinalMD_04417
    USH2A retinitis pigmentosa exonic NM_206933.2 exon58 SNV synonymous SNV RetinalMD_04418
    USH2A retinitis pigmentosa exonic NM_206933.2 exon65 SNV synonymous SNV RetinalMD_04419
    USH2A RP sine pigmento exonic NM_206933.2 exon42 SNV synonymous SNV RetinalMD_04420
    USH2A RP sine pigmento exonic NM_206933.2 exon50 SNV nonsynonymous SNV RetinalMD_04421
    USH2A usher syndrome type 2 exonic NM_206933.2 exon42 SNV nonsynonymous SNV RetinalMD_04422
    USH2A usher syndrome type 2 exonic NM_206933.2 exon57 SNV nonsynonymous SNV RetinalMD_04423
    USH3A Usher syndrome ncRNA_exonic SNV - RetinalMD_04424
    MYO7A Usher syndrome (USH) exonic NM_000260 exon33 SNV stopgain RetinalMD_04425
    USH1G ?Usher syndrome type 1 (USH1) exonic insertion - RetinalMD_04426
    BBS1 Bardet Biedl syndrome exonic NM_024649 exon10 deletion frameshift deletion RetinalMD_04427
    BBS10 Bardet Biedl syndrome exonic NM_024685 exon2 SNV nonsynonymous SNV RetinalMD_04428
    BBS10 Bardet Biedl syndrome exonic NM_024685 insertion - RetinalMD_04429
    BBS10 Bardet Biedl syndrome exonic NM_024685 exon2 deletion frameshift deletion RetinalMD_04430
    BBS2 Bardet Biedl syndrome exonic NM_031885 exon2 deletion frameshift deletion RetinalMD_04431
    BBS4 Bardet Biedl syndrome splicing NM_001252678 SNV - RetinalMD_04432
    BBS7 Bardet Biedl syndrome exonic NM_018190 exon4 SNV nonsynonymous SNV RetinalMD_04433
    BBS7 Bardet Biedl syndrome exonic NM_018190 exon6 SNV nonsynonymous SNV RetinalMD_04434
    BBS7 Bardet Biedl syndrome exonic NM_018190 exon7 deletion frameshift deletion;frameshift deletion RetinalMD_04435
    BBS7 Bardet Biedl syndrome exonic NM_018190 exon11 SNV stopgain RetinalMD_04436
    BBS7 Bardet Biedl syndrome exonic NM_018190 exon4 SNV synonymous SNV RetinalMD_04437
    BBS7 Bardet Biedl syndrome exonic NM_018190 exon7 deletion frameshift deletion;frameshift deletion RetinalMD_04438
    BBS7 Bardet Biedl syndrome exonic NM_018190 exon10 SNV nonsynonymous SNV RetinalMD_04439
    BBS9 Bardet Biedl syndrome exonic NM_001033604 exon2 deletion frameshift deletion RetinalMD_04440
    CDH23 Usher syndrome exonic NM_001171930 - SNV nonsynonymous SNV;nonsynonymous SNV RetinalMD_04441
    CDH23 Usher syndrome exonic NM_001171930 exon10 SNV nonsynonymous SNV RetinalMD_04442
    CDH23 Usher syndrome exonic NM_001171930 exon25 SNV nonsynonymous SNV RetinalMD_04443
    CDH23 Usher syndrome exonic NM_001171930 exon44 SNV nonsynonymous SNV RetinalMD_04444
    CDH23 Usher syndrome exonic NM_022124 exon66 SNV nonsynonymous SNV RetinalMD_04445
    CDH23 Usher syndrome splicing - - deletion - RetinalMD_04446
    CDH23 Usher syndrome splicing - - SNV - RetinalMD_04447
    CDH23 Usher syndrome exonicc - SNV nonsynonymous SNV;nonsynonymous SNV RetinalMD_04448
    CDH23 Usher syndrome exonic exon11 SNV nonsynonymous SNV RetinalMD_04449
    DFNB31 Usher syndrome exonic NM_001083885 exon9 SNV nonsynonymous SNV RetinalMD_04450
    DFNB31 Usher syndrome exonic NM_001173425 exon1 SNV synonymous SNV RetinalMD_04451
    GPR98 Usher syndrome exonic NM_032119 exon11 deletion frameshift deletion RetinalMD_04452
    GPR98 Usher syndrome exonic NM_032119 exon14 deletion frameshift deletion RetinalMD_04453
    GPR98 Usher syndrome exonic NM_032119 exon19 SNV nonsynonymous SNV RetinalMD_04454
    GPR98 Usher syndrome exonic NM_032119 exon58 SNV nonsynonymous SNV RetinalMD_04455
    GPR98 Usher syndrome exonic NM_032119 exon70 SNV nonsynonymous SNV RetinalMD_04456
    GUCY2D? Cone-rod dystrophy exonic NM_000180 exon13 SNV nonsynonymous SNV RetinalMD_04457
    GUCY2D? Cone-rod dystrophy exonic NM_000180 exon13 SNV nonsynonymous SNV RetinalMD_04458
    MYO7A Usher syndrome exonic NM_000260 exon40 SNV nonsynonymous SNV RetinalMD_04459
    MYO7A Usher syndrome exonic NM_000260 exon27 SNV nonsynonymous SNV;nonsynonymous SNV RetinalMD_04460
    MYO7A Usher syndrome exonic NM_000260 exon43 deletion frameshift deletion RetinalMD_04461
    MYO7A Usher syndrome exonic NM_000260 exon43 SNV nonsynonymous SNV RetinalMD_04462
    MYO7A Usher syndrome exonic NM_000260 exon44 deletion frameshift deletion;frameshift deletion RetinalMD_04463
    MYO7A Usher syndrome exonic NM_000260 exon40 SNV nonsynonymous SNV RetinalMD_04464
    MYO7A Usher syndrome splicing - - SNV - RetinalMD_04465
    MYO7A Usher syndrome exonic NM_000260 exon28 SNV stopgain RetinalMD_04466
    MYO7A Usher syndrome exonic NM_000260 exon6 SNV nonsynonymous SNV RetinalMD_04467
    MYO7A Usher syndrome exonic NM_000260 exon39 SNV stopgain RetinalMD_04468
    MYO7A Usher syndrome exonic NM_000260 exon27 SNV nonsynonymous SNV;nonsynonymous SNV RetinalMD_04469
    MYO7A Usher syndrome exonic NM_000260 exon7 SNV nonsynonymous SNV RetinalMD_04470
    MYO7A Usher syndrome exonic NM_000260 exon42 SNV stopgain RetinalMD_04471
    MYO7A Usher syndrome exonic NM_000260 exon49 SNV nonsynonymous SNV RetinalMD_04472
    MYO7A Usher syndrome exonic NM_000260 exon44 deletion frameshift deletion;frameshift deletion RetinalMD_04473
    PCDH15 Usher syndrome exonic NM_001142763 exon2 SNV stopgain RetinalMD_04474
    PRPH2 Cone-rod dystrophy exonic NM_000322 exon3 SNV nonsynonymous SNV RetinalMD_04475
    TTC8 Bardet Biedl syndrome exonic NM_001288781 exon4 SNV nonsynonymous SNV RetinalMD_04476
    UNC119 Cone-rod dystrophy exonic NM_005148 exon2 SNV nonsynonymous SNV RetinalMD_04477
    USH1C arRP intronic deletion - RetinalMD_04478
    USH1C Usher syndrome upstream SNV - RetinalMD_04479
    USH1C Usher syndrome intronic SNV - RetinalMD_04480
    USH1C Usher syndrome (USH) intronic SNV - RetinalMD_04481
    USH1C Sector RP and hearing loss intergenic SNV - RetinalMD_04482
    USH1G Usher syndrome exonic NM_173477 exon2 SNV stopgain RetinalMD_04483
    USH2A Usher syndrome exonic NM_206933 exon26 deletion frameshift deletion RetinalMD_04484
    USH2A Usher syndrome exonic NM_007123 exon13 deletion frameshift deletion;frameshift deletion RetinalMD_04485
    USH2A Usher syndrome exonic NM_206933 exon55 deletion frameshift deletion RetinalMD_04486
    USH2A Usher syndrome exonic NM_007123 exon13 SNV nonsynonymous SNV;nonsynonymous SNV RetinalMD_04487
    USH2A Usher syndrome exonic - - SNV nonsynonymous SNV RetinalMD_04488
    USH2A Usher syndrome exonic NM_206933 exon50 SNV nonsynonymous SNV;nonsynonymous SNV RetinalMD_04489
    USH2A Usher syndrome exonic NM_206933 exon57 SNV stopgain RetinalMD_04490
    USH2A Usher syndrome exonic NM_206933 - SNV synonymous SNV RetinalMD_04491
    USH2A Usher syndrome exonic NM_206933 exon21 SNV stopgain RetinalMD_04492
    USH2A Usher syndrome exonic NM_206933 exon2 SNV nonsynonymous SNV RetinalMD_04493
    USH2A Usher syndrome exonic NM_206933 exon25 SNV nonsynonymous SNV RetinalMD_04494
    USH2A Usher syndrome exonic NM_206933 exon7 deletion frameshift deletion RetinalMD_04495
    USH2A Usher syndrome exonic NM_206933 - SNV synonymous SNV RetinalMD_04496
    USH2A Usher syndrome exonic NM_206933 exon62 deletion stopgain RetinalMD_04497
    USH2A Usher syndrome exonic NM_206933 exon28 SNV nonsynonymous SNV RetinalMD_04498
    USH2A Usher syndrome exonic NM_206933 exon13 deletion frameshift deletion;frameshift deletion RetinalMD_04499
    USH2A Usher syndrome exonic NM_206933 exon41 SNV stopgain RetinalMD_04500
    USH2A Usher syndrome exonic NM_206933 exon50 SNV nonsynonymous SNV;nonsynonymous SNV RetinalMD_04501
    USH2A Usher syndrome exonic NM_206933 exon13 SNV nonsynonymous SNV;nonsynonymous SNV RetinalMD_04502
    USH2A Usher syndrome (USH) exonic NM_206933 exon70 deletion frameshift deletion RetinalMD_04503
    USH2A Usher syndrome (USH) exonic insertion - RetinalMD_04504
    WDPCP Bardet Biedl syndrome exonic NM_015910 exon2 SNV nonsynonymous SNV RetinalMD_04505
    WFS1 Wolfram syndrome exonic NM_001145853 exon4 SNV nonsynonymous SNV RetinalMD_04506
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV stopgain RetinalMD_04507
    WFS1 Wolfram syndrome exonic NM_001145853 exon7 SNV stopgain RetinalMD_04508
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 deletion frameshift deletion RetinalMD_04509
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV stopgain RetinalMD_04510
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 insertion frameshift insertion RetinalMD_04511
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV stopgain RetinalMD_04512
    WFS1 Wolfram syndrome exonic NM_001145853 exon5 deletion nonframeshift deletion RetinalMD_04513
    WFS1 Wolfram syndrome exonic NM_001145853 exon5 SNV nonsynonymous SNV RetinalMD_04514
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 deletion frameshift deletion RetinalMD_04515
    WFS1 Wolfram syndrome exonic NM_001145853 exon7 SNV nonsynonymous SNV RetinalMD_04516
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04517
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 insertion nonframeshift insertion RetinalMD_04518
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04519
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04520
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04521
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04522
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04523
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV stopgain RetinalMD_04524
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04525
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04526
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04527
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04528
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04529
    WFS1 Wolfram syndrome exonic NM_001145853 exon7 deletion frameshift deletion RetinalMD_04530
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 deletion frameshift deletion RetinalMD_04531
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04532
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04533
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04534
    WFS1 Wolfram syndrome exonic NM_001145853 exon5 SNV nonsynonymous SNV RetinalMD_04535
    WFS1 Wolfram syndrome exonic NM_001145853 - insertion - RetinalMD_04536
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04537
    WFS1 Wolfram syndrome exonic NM_001145853 exon4 SNV nonsynonymous SNV RetinalMD_04538
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV stopgain RetinalMD_04539
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04540
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04541
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 deletion frameshift deletion RetinalMD_04542
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV stopgain;stopgain RetinalMD_04543
    WFS1 Wolfram syndrome exonic NM_001145853 exon7 deletion frameshift deletion RetinalMD_04544
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04545
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04546
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV frameshift deletion RetinalMD_04547
    WFS1 Wolfram syndrome exonic NM_001145853 - insertion - RetinalMD_04548
    WFS1 Wolfram syndrome exonic NM_001145853 exon5 deletion frameshift deletion RetinalMD_04549
    WFS1 Wolfram syndrome intronic NM_001145853 - SNV - RetinalMD_04550
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04551
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04552
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04553
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04554
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV stopgain;stopgain RetinalMD_04555
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV stopgain RetinalMD_04556
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04557
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04558
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV synonymous SNV RetinalMD_04559
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04560
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04561
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV stopgain RetinalMD_04562
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 deletion frameshift deletion RetinalMD_04563
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04564
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 insertion frameshift insertion RetinalMD_04565
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04566
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV stopgain RetinalMD_04567
    WFS1 Wolfram syndrome exonic NM_001145853 - deletion - RetinalMD_04568
    WFS1 Wolfram syndrome exonic NM_001145853 exon8 SNV nonsynonymous SNV RetinalMD_04569
    WFS1 Wolfram syndrome exonic NM_001145853 exon5 SNV nonsynonymous SNV RetinalMD_04570
    retinalMD_04571
    retinalMD_04571