NM_201253.3(CRB1):c.1410A>G (p.Leu470=)
|
rs3902057
|
0.92528
|
NM_014336.5(AIPL1):c.651A>G (p.Pro217=)
|
rs2292546
|
0.73525
|
NM_014336.5(AIPL1):c.300A>G (p.Leu100=)
|
rs8075035
|
0.60839
|
NM_014336.5(AIPL1):c.277-10A>C
|
rs12453262
|
0.52383
|
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu)
|
rs6571751
|
0.48811
|
NM_018418.5(SPATA7):c.220G>A (p.Val74Met)
|
rs3179969
|
0.39047
|
NM_201253.3(CRB1):c.71-12A>T
|
rs12042179
|
0.33853
|
NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn)
|
rs4904448
|
0.30943
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln)
|
rs3748361
|
0.25511
|
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=)
|
rs9322965
|
0.22187
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His)
|
rs8069344
|
0.20071
|
NM_020366.4(RPGRIP1):c.2215+7G>A
|
rs7157052
|
0.19970
|
NM_014336.5(AIPL1):c.268G>C (p.Asp90His)
|
rs12449580
|
0.19586
|
NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=)
|
rs17792599
|
0.16008
|
NM_000329.3(RPE65):c.1056G>A (p.Glu352=)
|
rs12145904
|
0.15903
|
NM_000554.6(CRX):c.100+12C>T
|
rs62128766
|
0.14108
|
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln)
|
rs17852293
|
0.12044
|
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=)
|
rs56130505
|
0.11446
|
NM_000180.4(GUCY2D):c.741C>T (p.His247=)
|
rs3829789
|
0.10665
|
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg)
|
rs9905402
|
0.09880
|
NM_201253.3(CRB1):c.1410= (p.Leu470=)
|
rs3902057
|
0.07472
|
NM_201253.3(CRB1):c.*28T>C
|
rs41302107
|
0.07060
|
NM_018418.5(SPATA7):c.20-19T>G
|
rs75595762
|
0.06915
|
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln)
|
rs1040904
|
0.05758
|
NM_020366.4(RPGRIP1):c.3340-15C>T
|
rs28664100
|
0.05325
|
NM_014336.5(AIPL1):c.784+18G>A
|
rs7222126
|
0.05323
|
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln)
|
rs10139784
|
0.04245
|
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu)
|
rs17124677
|
0.03851
|
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg)
|
rs61747004
|
0.03845
|
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu)
|
rs35137272
|
0.03845
|
NM_018418.5(SPATA7):c.94+20C>T
|
rs17124616
|
0.03841
|
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn)
|
rs17124662
|
0.03831
|
NM_018418.5(SPATA7):c.546T>C (p.Ser182=)
|
rs17124665
|
0.03818
|
NM_018418.5(SPATA7):c.191-14C>A
|
rs60770744
|
0.03598
|
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)
|
rs34598902
|
0.03505
|
NM_000329.3(RPE65):c.1338+20A>C
|
rs12564647
|
0.03055
|
NM_000180.4(GUCY2D):c.3044-7G>T
|
rs56348143
|
0.02884
|
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)
|
rs17103671
|
0.02649
|
NM_001001557.4(GDF6):c.936G>C (p.Ser312=)
|
rs148861809
|
0.02643
|
NM_000554.6(CRX):c.472G>A (p.Ala158Thr)
|
rs61748445
|
0.02598
|
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu)
|
rs34725281
|
0.02464
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
NM_000180.4(GUCY2D):c.3225-7C>T
|
rs79887212
|
0.02045
|
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=)
|
rs142351773
|
0.02033
|
NM_014336.5(AIPL1):c.111C>T (p.Phe37=)
|
rs11650007
|
0.02008
|
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=)
|
rs56034424
|
0.01951
|
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)
|
rs8069375
|
0.01781
|
NM_201253.3(CRB1):c.2128+15A>C
|
rs75691013
|
0.01643
|
NM_001164688.2(RD3):c.500G>A (p.Arg167Lys)
|
rs74782684
|
0.01632
|
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=)
|
rs34116882
|
0.01609
|
NM_018418.5(SPATA7):c.1255T>C (p.Leu419=)
|
rs112976233
|
0.01543
|
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)
|
rs74034910
|
0.01504
|
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu)
|
rs28743021
|
0.01496
|
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=)
|
rs56316238
|
0.01492
|
NM_000554.6(CRX):c.101-12A>G
|
rs73941294
|
0.01428
|
NM_000180.4(GUCY2D):c.3043+20G>C
|
rs78844078
|
0.01374
|
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile)
|
rs62619924
|
0.01285
|
NM_001164688.2(RD3):c.584A>T (p.Asp195Val)
|
rs143207434
|
0.01101
|
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile)
|
rs142796310
|
0.01022
|
NM_201253.3(CRB1):c.2677-8C>T
|
rs73071678
|
0.00970
|
NM_001164688.2(RD3):c.84G>A (p.Thr28=)
|
rs61740158
|
0.00932
|
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)
|
rs62646879
|
0.00919
|
NM_001164688.2(RD3):c.296+18G>A
|
rs112790429
|
0.00876
|
NM_001164688.2(RD3):c.16T>C (p.Trp6Arg)
|
rs35649846
|
0.00871
|
NM_001164688.2(RD3):c.235T>C (p.Leu79=)
|
rs35937732
|
0.00870
|
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys)
|
rs34049451
|
0.00854
|
NM_001164688.2(RD3):c.69G>C (p.Glu23Asp)
|
rs34422496
|
0.00786
|
NM_000329.3(RPE65):c.95-18G>A
|
rs75886344
|
0.00747
|
NM_000329.3(RPE65):c.399T>C (p.Leu133=)
|
rs59257923
|
0.00728
|
NM_020366.4(RPGRIP1):c.3447C>T (p.Tyr1149=)
|
rs35592908
|
0.00689
|
NM_014336.5(AIPL1):c.642+14G>A
|
rs188779461
|
0.00682
|
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)
|
rs59691602
|
0.00655
|
NM_020366.4(RPGRIP1):c.2292G>A (p.Ala764=)
|
rs35207255
|
0.00650
|
NM_014336.5(AIPL1):c.765T>C (p.Asp255=)
|
rs62637018
|
0.00643
|
NM_000554.6(CRX):c.365G>A (p.Gly122Asp)
|
rs61748441
|
0.00614
|
NM_001001557.4(GDF6):c.852C>G (p.Ser284=)
|
rs74498875
|
0.00603
|
NM_014336.5(AIPL1):c.277-14G>A
|
rs117749485
|
0.00585
|
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)
|
rs115681466
|
0.00535
|
NM_000554.6(CRX):c.724G>A (p.Val242Met)
|
rs61748459
|
0.00521
|
NM_000329.3(RPE65):c.1155G>A (p.Thr385=)
|
rs62653014
|
0.00481
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=)
|
rs112372281
|
0.00461
|
NM_014336.5(AIPL1):c.97-9G>A
|
rs140124986
|
0.00457
|
NM_022787.4(NMNAT1):c.115+3A>G
|
rs181504239
|
0.00447
|
NM_020366.4(RPGRIP1):c.930+3A>G
|
rs150107283
|
0.00419
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro)
|
rs35810926
|
0.00369
|
NM_001001557.4(GDF6):c.255G>T (p.Pro85=)
|
rs112296824
|
0.00366
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
NM_000180.4(GUCY2D):c.1566+17G>A
|
rs140657975
|
0.00357
|
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)
|
rs150656720
|
0.00357
|
NM_022787.4(NMNAT1):c.440-16G>T
|
rs181513024
|
0.00353
|
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His)
|
rs34067949
|
0.00344
|
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=)
|
rs55916957
|
0.00340
|
NM_020366.4(RPGRIP1):c.218+13C>G
|
rs200225522
|
0.00279
|
NM_201253.3(CRB1):c.1470C>T (p.Gly490=)
|
rs35193230
|
0.00265
|
NM_201253.3(CRB1):c.600A>G (p.Thr200=)
|
rs77713666
|
0.00254
|
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)
|
rs145896974
|
0.00240
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
NM_000554.6(CRX):c.196G>A (p.Val66Ile)
|
rs61748438
|
0.00231
|
NM_014336.5(AIPL1):c.516T>C (p.His172=)
|
rs62637017
|
0.00220
|
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)
|
rs62636287
|
0.00208
|
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
|
rs121909352
|
0.00200
|
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)
|
rs143092701
|
0.00200
|
NM_014336.5(AIPL1):c.228T>C (p.Leu76=)
|
rs141947237
|
0.00199
|
NM_000180.4(GUCY2D):c.2917G>T (p.Val973Leu)
|
rs181567056
|
0.00191
|
NM_000554.6(CRX):c.253-15G>A
|
rs145805694
|
0.00187
|
NM_000329.3(RPE65):c.978G>T (p.Val326=)
|
rs61752907
|
0.00186
|
NM_014336.5(AIPL1):c.318G>A (p.Gln106=)
|
rs142208422
|
0.00185
|
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=)
|
rs185667326
|
0.00183
|
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)
|
rs151338404
|
0.00176
|
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)
|
rs151104285
|
0.00143
|
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)
|
rs144822294
|
0.00138
|
NM_018418.5(SPATA7):c.190+16T>C
|
rs201762735
|
0.00135
|
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=)
|
rs144585562
|
0.00130
|
NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=)
|
rs146849545
|
0.00128
|
NM_014336.5(AIPL1):c.853G>A (p.Ala285Thr)
|
rs145430356
|
0.00119
|
NM_014336.5(AIPL1):c.854C>A (p.Ala285Glu)
|
rs148543951
|
0.00119
|
NM_000180.4(GUCY2D):c.2155C>T (p.Leu719=)
|
rs151106252
|
0.00111
|
NM_201253.3(CRB1):c.2843-13C>T
|
rs199808176
|
0.00109
|
NM_014336.5(AIPL1):c.756C>T (p.His252=)
|
rs202182152
|
0.00107
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_022787.4(NMNAT1):c.23A>C (p.Glu8Ala)
|
rs61740429
|
0.00103
|
NM_000554.6(CRX):c.102C>T (p.Ser34=)
|
rs139778328
|
0.00102
|
NM_014336.5(AIPL1):c.234C>T (p.Ser78=)
|
rs62635774
|
0.00102
|
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)
|
rs61749678
|
0.00095
|
NM_152443.3(RDH12):c.264G>A (p.Lys88=)
|
rs149522949
|
0.00092
|
NM_152443.3(RDH12):c.659-12T>C
|
rs77686476
|
0.00091
|
NM_000329.3(RPE65):c.1129-14A>G
|
rs113329701
|
0.00086
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)
|
rs181758389
|
0.00076
|
NM_020366.4(RPGRIP1):c.490+11A>C
|
rs200740893
|
0.00076
|
NM_000329.3(RPE65):c.1244-5C>T
|
rs202185816
|
0.00074
|
NM_020366.4(RPGRIP1):c.2037C>T (p.Thr679=)
|
rs372813238
|
0.00073
|
NM_000554.6(CRX):c.618C>T (p.Ser206=)
|
rs145117150
|
0.00072
|
NM_014336.5(AIPL1):c.780C>T (p.His260=)
|
rs145304845
|
0.00072
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
NM_001164688.2(RD3):c.519G>A (p.Val173=)
|
rs139419737
|
0.00062
|
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg)
|
rs140579014
|
0.00061
|
NM_000329.3(RPE65):c.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
NM_018418.5(SPATA7):c.381C>T (p.Gly127=)
|
rs371280215
|
0.00058
|
NM_152443.3(RDH12):c.848+14A>C
|
rs535122314
|
0.00058
|
NM_001164688.2(RD3):c.168C>T (p.Thr56=)
|
rs146420268
|
0.00057
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)
|
rs142224492
|
0.00051
|
NM_020366.4(RPGRIP1):c.2100G>T (p.Arg700=)
|
rs369515171
|
0.00048
|
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)
|
rs201414567
|
0.00047
|
NM_000180.4(GUCY2D):c.2413-14C>T
|
rs189559705
|
0.00046
|
NM_152443.3(RDH12):c.570C>T (p.Ser190=)
|
rs79869437
|
0.00041
|
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe)
|
rs140428156
|
0.00036
|
NM_000180.4(GUCY2D):c.3225-10C>T
|
rs200705417
|
0.00034
|
NM_000180.4(GUCY2D):c.615C>A (p.Leu205=)
|
rs568227769
|
0.00031
|
NM_000180.4(GUCY2D):c.2577-15G>A
|
rs199708312
|
0.00024
|
NM_001001557.4(GDF6):c.921G>C (p.Ala307=)
|
rs545149100
|
0.00024
|
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)
|
rs190490019
|
0.00024
|
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn)
|
rs138626416
|
0.00024
|
NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys)
|
rs148321868
|
0.00022
|
NM_000180.4(GUCY2D):c.1026+6C>T
|
rs147410617
|
0.00021
|
NM_018418.5(SPATA7):c.387G>A (p.Pro129=)
|
rs199727517
|
0.00021
|
NM_201253.3(CRB1):c.1986A>G (p.Ser662=)
|
rs115400822
|
0.00021
|
NM_018418.5(SPATA7):c.345C>T (p.Ser115=)
|
rs754923626
|
0.00019
|
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)
|
rs142857810
|
0.00019
|
NM_000180.4(GUCY2D):c.3246C>T (p.Ser1082=)
|
rs374580575
|
0.00016
|
NM_001001557.4(GDF6):c.407-20A>C
|
rs536565151
|
0.00016
|
NM_201253.3(CRB1):c.2538A>T (p.Gly846=)
|
rs139040133
|
0.00015
|
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val)
|
rs140782427
|
0.00014
|
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)
|
rs114846212
|
0.00014
|
NM_000329.3(RPE65):c.441A>G (p.Thr147=)
|
rs185049543
|
0.00012
|
NM_018418.5(SPATA7):c.207G>A (p.Ser69=)
|
rs142913613
|
0.00011
|
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=)
|
rs188318743
|
0.00010
|
NM_020366.4(RPGRIP1):c.86-20A>T
|
rs372867069
|
0.00008
|
NM_000180.4(GUCY2D):c.1659T>G (p.Gly553=)
|
rs766570845
|
0.00007
|
NM_000329.3(RPE65):c.585C>T (p.Cys195=)
|
rs571111378
|
0.00007
|
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)
|
rs561421783
|
0.00007
|
NM_000329.3(RPE65):c.1086A>G (p.Gln362=)
|
rs750890448
|
0.00006
|
NM_000554.6(CRX):c.551C>T (p.Pro184Leu)
|
rs147558800
|
0.00006
|
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr)
|
rs368498747
|
0.00006
|
NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly)
|
rs768532556
|
0.00006
|
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro)
|
rs573367793
|
0.00005
|
NM_000554.6(CRX):c.276T>G (p.Ala92=)
|
rs536401910
|
0.00005
|
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=)
|
rs780576185
|
0.00005
|
NM_201253.3(CRB1):c.447C>T (p.His149=)
|
rs576678571
|
0.00005
|
NM_000554.6(CRX):c.591G>A (p.Pro197=)
|
rs769009205
|
0.00004
|
NM_000554.6(CRX):c.645C>T (p.Phe215=)
|
rs191794330
|
0.00004
|
NM_018418.5(SPATA7):c.913-14T>A
|
rs185459765
|
0.00004
|
NM_020366.4(RPGRIP1):c.2592T>C (p.Tyr864=)
|
rs201639860
|
0.00004
|
NM_018418.5(SPATA7):c.373-15A>G
|
rs781587897
|
0.00003
|
NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=)
|
rs372186092
|
0.00003
|
NM_020366.4(RPGRIP1):c.3749-6C>A
|
rs373373799
|
0.00003
|
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg)
|
rs888138096
|
0.00002
|
NM_001001557.4(GDF6):c.245C>T (p.Ala82Val)
|
rs988646683
|
0.00001
|
NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu)
|
rs748092776
|
0.00001
|
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys)
|
rs780167779
|
0.00001
|
NM_001001557.4(GDF6):c.876G>C (p.Glu292Asp)
|
rs1401531865
|
0.00001
|
NM_020366.4(RPGRIP1):c.3239-14C>T
|
rs542859849
|
0.00001
|
NM_201253.3(CRB1):c.1479C>T (p.Phe493=)
|
rs770919155
|
0.00001
|
NM_201253.3(CRB1):c.2715G>A (p.Arg905=)
|
rs534108312
|
0.00001
|
NM_000180.4(GUCY2D):c.11G>A (p.Cys4Tyr)
|
|
|
NM_000180.4(GUCY2D):c.1956+15del
|
|
|
NM_000180.4(GUCY2D):c.2114-9del
|
rs2151802761
|
|
NM_000180.4(GUCY2D):c.2769+16del
|
|
|
NM_000180.4(GUCY2D):c.3043+11C>T
|
rs116870332
|
|
NM_000180.4(GUCY2D):c.3043+15del
|
|
|
NM_000180.4(GUCY2D):c.3225-10del
|
rs750454050
|
|
NM_000329.3(RPE65):c.1302G>A (p.Ala434=)
|
rs62636301
|
|
NM_000329.3(RPE65):c.1302G>C (p.Ala434=)
|
rs62636301
|
|
NM_000329.3(RPE65):c.432C>T (p.Tyr144=)
|
rs56021047
|
|
NM_000329.3(RPE65):c.859-5dup
|
|
|
NM_000554.6(CRX):c.101-3del
|
rs727503894
|
|
NM_001001557.4(GDF6):c.1204A>G (p.Ile402Val)
|
|
|
NM_001001557.4(GDF6):c.125G>C (p.Gly42Ala)
|
rs121909354
|
|
NM_001001557.4(GDF6):c.215A>G (p.Gln72Arg)
|
|
|
NM_001001557.4(GDF6):c.407-10dup
|
|
|
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln)
|
rs1444302456
|
|
NM_001001557.4(GDF6):c.980C>A (p.Pro327His)
|
rs121909356
|
|
NM_001001557.4(GDF6):c.995G>T (p.Arg332Leu)
|
rs1812445302
|
|
NM_001164688.2(RD3):c.296+18del
|
rs753221814
|
|
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
|
rs281865195
|
|
NM_014336.5(AIPL1):c.853_854delinsAA (p.Ala285Lys)
|
rs2150674893
|
|
NM_014336.5(AIPL1):c.96+14del
|
|
|
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)
|
rs150427474
|
|
NM_018418.4(SPATA7):c.20_23del
|
rs527236050
|
|
NM_018418.5(SPATA7):c.1215+7C>A
|
rs201943545
|
|
NM_018418.5(SPATA7):c.20-12del
|
|
|
NM_018418.5(SPATA7):c.239-10dup
|
|
|
NM_020366.4(RPGRIP1):c.3748+17dup
|
rs578107768
|
|
NM_020366.4(RPGRIP1):c.490+23dup
|
|
|
NM_020366.4(RPGRIP1):c.907-25AAT[3]
|
rs398099213
|
|
NM_152443.3(RDH12):c.931C>T (p.Leu311=)
|
rs201458213
|
|
NM_201253.3(CRB1):c.1172-13dup
|
|
|
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=)
|
rs535494663
|
|
NM_201253.3(CRB1):c.4005+4AGC[3]
|
rs550852869
|
|
NM_201253.3(CRB1):c.653-6del
|
|
|
NM_201253.3(CRB1):c.71-13dup
|
rs772914182
|
|
NM_201253.3(CRB1):c.848+9del
|
rs1357084962
|
|
NM_201253.3(CRB1):c.848+9dup
|
rs1357084962
|
|
NM_201253.3(CRB1):c.988+13dup
|
|
|