NM_012463.3(ATP6V0A2):c.-222C>G
|
rs71458814
|
0.36518
|
NM_012463.4(ATP6V0A2):c.-14C>T
|
rs1139320
|
0.36505
|
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala)
|
rs10269582
|
0.34362
|
NM_018719.5(CDCA7L):c.*980T>C
|
rs7971
|
0.27747
|
NM_002055.5(GFAP):c.*28C>G
|
rs11558961
|
0.27601
|
NM_213607.3(CCDC103):c.*4G>A
|
rs8079308
|
0.26209
|
NM_002055.5(GFAP):c.*1522T>C
|
rs17027
|
0.26200
|
NM_213607.2(CCDC103):c.-164T>G
|
rs2277617
|
0.25672
|
NM_001277115.2(DNAH11):c.5621+11A>T
|
rs59447021
|
0.23311
|
NM_001277115.2(DNAH11):c.7335G>A (p.Ser2445=)
|
rs11768670
|
0.20699
|
NM_019892.6(INPP5E):c.*98G>A
|
rs35873563
|
0.20643
|
NM_018719.5(CDCA7L):c.*501T>C
|
rs12700325
|
0.20592
|
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)
|
rs11793196
|
0.20136
|
NM_031885.3(BBS2):c.-239G>A
|
rs2303284
|
0.19980
|
NM_152618.3(BBS12):c.*187dup
|
rs386401352
|
0.19865
|
NM_015910.6(WDPCP):c.-396T>G
|
rs2278718
|
0.19689
|
NM_000152.5(GAA):c.-260G>C
|
rs2304849
|
0.16933
|
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr)
|
rs9297853
|
0.15619
|
NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg)
|
rs12670130
|
0.14853
|
NM_002055.5(GFAP):c.*338C>T
|
rs8067254
|
0.14346
|
NM_001277115.2(DNAH11):c.11202+13G>A
|
rs73279830
|
0.13824
|
NM_213607.3(CCDC103):c.276+6T>C
|
rs74349463
|
0.12539
|
NM_002055.5(GFAP):c.*814T>A
|
rs3744470
|
0.12217
|
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=)
|
rs4392792
|
0.12205
|
NM_001134831.2(AHI1):c.*396_*397dup
|
rs397885237
|
0.11907
|
NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=)
|
rs2072220
|
0.11781
|
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=)
|
rs55666134
|
0.11626
|
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys)
|
rs62441683
|
0.11359
|
NM_019892.6(INPP5E):c.*926T>C
|
rs1128877
|
0.10951
|
NM_002055.5(GFAP):c.*1001G>A
|
rs1042329
|
0.10683
|
NM_002055.5(GFAP):c.*1620C>T
|
rs7049
|
0.10679
|
NM_001277115.2(DNAH11):c.3256-10C>G
|
rs17745898
|
0.10468
|
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile)
|
rs17263496
|
0.10451
|
NM_001277115.2(DNAH11):c.54C>T (p.Thr18=)
|
rs2285942
|
0.09968
|
NM_001377.3(DYNC2H1):c.5558+4A>G
|
rs11225578
|
0.09042
|
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr)
|
rs17301182
|
0.08896
|
NM_018718.2(CEP41):c.-144G>A
|
rs10230435
|
0.08654
|
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro)
|
rs17145720
|
0.08574
|
NM_023073.3(CPLANE1):c.-234G>C
|
rs80164363
|
0.08017
|
NM_000363.5(TNNI3):c.-35C>A
|
rs3729707
|
0.07367
|
NM_000363.5(TNNI3):c.150+13G>A
|
rs73617692
|
0.07353
|
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=)
|
rs17144747
|
0.07116
|
NM_147127.5(EVC2):c.-15G>A
|
rs76269601
|
0.07112
|
NM_001377.3(DYNC2H1):c.12457-6C>T
|
rs11225812
|
0.07031
|
NM_001178007.1(BBS12):c.-391C>T
|
rs28642232
|
0.06726
|
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=)
|
rs17301028
|
0.06471
|
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg)
|
rs77448980
|
0.06056
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06016
|
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)
|
rs890871
|
0.05642
|
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)
|
rs3848618
|
0.05626
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
NM_017950.3(CCDC40):c.-36C>T
|
rs73437681
|
0.05525
|
NM_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly)
|
rs17144835
|
0.05345
|
NM_001277115.2(DNAH11):c.11325G>A (p.Ala3775=)
|
rs12666072
|
0.05248
|
NM_178452.6(DNAAF1):c.-83dup
|
rs149813685
|
0.04983
|
NM_000363.5(TNNI3):c.537G>A (p.Glu179=)
|
rs3729841
|
0.04860
|
NM_016464.4(TMEM138):c.-308A>G
|
rs7120780
|
0.04768
|
NM_031427.4(DNAL1):c.*7710_*7711dup
|
rs201343251
|
0.04579
|
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu)
|
rs12146610
|
0.04434
|
NM_017777.4(MKS1):c.*472C>G
|
rs17174788
|
0.04345
|
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr)
|
rs72655988
|
0.04164
|
NM_001277115.2(DNAH11):c.1199C>T (p.Thr400Ile)
|
rs72655982
|
0.04096
|
NM_000363.5(TNNI3):c.204G>T (p.Arg68=)
|
rs3729711
|
0.04033
|
NM_198525.3(KIF7):c.-5T>G
|
rs62021460
|
0.03972
|
NM_024809.5(TCTN2):c.-55C>A
|
rs78846567
|
0.03708
|
NM_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His)
|
rs2003417
|
0.03504
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
NM_153240.5(NPHP3):c.*266G>A
|
rs11708200
|
0.03396
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_001277115.2(DNAH11):c.12508-12T>C
|
rs72658822
|
0.03145
|
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=)
|
rs77738279
|
0.03138
|
NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=)
|
rs72658820
|
0.03062
|
NM_153240.5(NPHP3):c.2571-7T>C
|
rs62292468
|
0.02974
|
NM_198428.3(BBS9):c.1029A>G (p.Gly343=)
|
rs35195153
|
0.02890
|
NM_198525.3(KIF7):c.2043T>A (p.Val681=)
|
rs72750755
|
0.02861
|
NM_198428.3(BBS9):c.1284C>T (p.Thr428=)
|
rs6964382
|
0.02858
|
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly)
|
rs12093500
|
0.02840
|
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val)
|
rs72658840
|
0.02832
|
NM_001080432.3(FTO):c.18T>C (p.Thr6=)
|
rs73609956
|
0.02787
|
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)
|
rs11999454
|
0.02757
|
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn)
|
rs149158199
|
0.02715
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_153240.5(NPHP3):c.*785G>A
|
rs6774366
|
0.02518
|
NM_000152.5(GAA):c.-178G>A
|
rs77514632
|
0.02487
|
NM_000152.5(GAA):c.-338C>G
|
rs144639114
|
0.02435
|
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=)
|
rs74599901
|
0.02427
|
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)
|
rs117122459
|
0.02390
|
NM_017950.4(CCDC40):c.*654A>C
|
rs2289538
|
0.02366
|
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=)
|
rs111995400
|
0.02321
|
NM_001173990.3(TMEM216):c.*444T>C
|
rs116047887
|
0.02253
|
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln)
|
rs17099969
|
0.02244
|
NM_001277115.2(DNAH11):c.421G>T (p.Asp141Tyr)
|
rs72655969
|
0.02191
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)
|
rs3818577
|
0.02063
|
NM_025114.4(CEP290):c.251-10A>T
|
rs190383141
|
0.02052
|
NM_012144.4(DNAI1):c.-178G>C
|
rs3802429
|
0.01938
|
NM_019892.6(INPP5E):c.-174G>A
|
rs544247720
|
0.01935
|
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met)
|
rs36064831
|
0.01896
|
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro)
|
rs117203086
|
0.01848
|
NM_178452.6(DNAAF1):c.228C>T (p.His76=)
|
rs61743547
|
0.01842
|
NM_153240.5(NPHP3):c.864T>A (p.Thr288=)
|
rs147932449
|
0.01825
|
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=)
|
rs74713170
|
0.01817
|
NM_001377.3(DYNC2H1):c.2818+13T>C
|
rs150786504
|
0.01790
|
NM_017950.4(CCDC40):c.*265C>T
|
rs74000393
|
0.01774
|
NM_002408.4(MGAT2):c.261G>T (p.Leu87=)
|
rs2228449
|
0.01763
|
NM_018719.5(CDCA7L):c.*1052G>A
|
rs72658841
|
0.01754
|
NM_153704.6(TMEM67):c.*19T>C
|
rs55850117
|
0.01744
|
NM_001277115.2(DNAH11):c.9098T>C (p.Ile3033Thr)
|
rs28751578
|
0.01743
|
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys)
|
rs35485382
|
0.01709
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_001377.3(DYNC2H1):c.*265C>T
|
rs78537620
|
0.01600
|
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His)
|
rs41289942
|
0.01592
|
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=)
|
rs116574613
|
0.01532
|
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=)
|
rs77533254
|
0.01496
|
NM_015681.6(B9D1):c.580T>C (p.Leu194=)
|
rs7212549
|
0.01478
|
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val)
|
rs16902880
|
0.01472
|
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly)
|
rs16902886
|
0.01470
|
NM_001377.3(DYNC2H1):c.-94G>T
|
rs114993913
|
0.01448
|
NM_001369.3(DNAH5):c.*1389C>T
|
rs77701143
|
0.01404
|
NM_001044385.3(TMEM237):c.*3124A>T
|
rs79378497
|
0.01390
|
NM_020779.4(WDR35):c.*2315G>C
|
rs72779355
|
0.01383
|
NM_015272.5(RPGRIP1L):c.2959-15T>C
|
rs11863101
|
0.01368
|
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=)
|
rs151056947
|
0.01339
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
NM_000549.5(TSHB):c.-13A>G
|
rs77331078
|
0.01269
|
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu)
|
rs34209904
|
0.01256
|
NM_001278293.3(ARL6):c.-240C>T
|
rs116162146
|
0.01233
|
NM_017777.4(MKS1):c.-18C>G
|
rs116514023
|
0.01231
|
NM_024809.5(TCTN2):c.*67C>T
|
rs112214860
|
0.01216
|
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln)
|
rs113345685
|
0.01206
|
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr)
|
rs61734546
|
0.01201
|
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys)
|
rs61898615
|
0.01194
|
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu)
|
rs115857753
|
0.01168
|
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile)
|
rs117169123
|
0.01149
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
NM_023036.6(DNAI2):c.55+6G>A
|
rs118104009
|
0.01132
|
NM_153240.5(NPHP3):c.57G>C (p.Thr19=)
|
rs192633696
|
0.01128
|
NM_153704.6(TMEM67):c.*852C>T
|
rs114214029
|
0.01103
|
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr)
|
rs61733578
|
0.01102
|
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln)
|
rs12084067
|
0.01099
|
NM_001199397.3(NEK1):c.-488C>T
|
rs62334514
|
0.01094
|
NM_015681.6(B9D1):c.181C>T (p.Arg61Trp)
|
rs73980038
|
0.01073
|
NM_012144.4(DNAI1):c.978A>C (p.Gln326His)
|
rs16931555
|
0.01063
|
NM_024809.5(TCTN2):c.*45G>A
|
rs142969969
|
0.01053
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_024809.5(TCTN2):c.898C>T (p.Leu300=)
|
rs77804131
|
0.01030
|
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=)
|
rs112158562
|
0.01028
|
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val)
|
rs35636875
|
0.01015
|
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=)
|
rs146191243
|
0.01011
|
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)
|
rs118143944
|
0.00983
|
NM_001369.3(DNAH5):c.6061+10A>G
|
rs77957856
|
0.00962
|
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val)
|
rs115109673
|
0.00961
|
NM_001023570.4(IQCB1):c.-178C>T
|
rs191557781
|
0.00949
|
NM_147127.5(EVC2):c.-19T>C
|
rs188508515
|
0.00949
|
NM_153240.5(NPHP3):c.450G>A (p.Ala150=)
|
rs78527322
|
0.00906
|
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)
|
rs61734468
|
0.00905
|
NM_023036.6(DNAI2):c.234G>A (p.Glu78=)
|
rs35985071
|
0.00904
|
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=)
|
rs34671383
|
0.00895
|
NM_025114.4(CEP290):c.-33G>T
|
rs139415563
|
0.00894
|
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met)
|
rs72655972
|
0.00876
|
NM_001010892.3(RSPH4A):c.1798+11G>A
|
rs41290844
|
0.00873
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_001369.3(DNAH5):c.*1502C>T
|
rs144265705
|
0.00842
|
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)
|
rs61740509
|
0.00831
|
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)
|
rs150138016
|
0.00815
|
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=)
|
rs35963491
|
0.00809
|
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile)
|
rs74604638
|
0.00808
|
NM_144596.4(TTC8):c.625-5C>T
|
rs137853922
|
0.00807
|
NM_001369.3(DNAH5):c.6579+6A>G
|
rs141389162
|
0.00798
|
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu)
|
rs137991407
|
0.00785
|
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys)
|
rs61749025
|
0.00769
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_181426.2(CCDC39):c.*325C>T
|
rs73883902
|
0.00748
|
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)
|
rs79644671
|
0.00740
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)
|
rs62000428
|
0.00732
|
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)
|
rs75714509
|
0.00723
|
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr)
|
rs77014998
|
0.00719
|
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys)
|
rs115075057
|
0.00713
|
NM_014714.4(IFT140):c.*63A>G
|
rs149678731
|
0.00706
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=)
|
rs140498500
|
0.00702
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
NM_018718.3(CEP41):c.*1512C>T
|
rs73721889
|
0.00689
|
NM_001010892.3(RSPH4A):c.*250G>T
|
rs58311062
|
0.00681
|
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=)
|
rs73765819
|
0.00679
|
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)
|
rs75220808
|
0.00678
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys)
|
rs61734948
|
0.00656
|
NM_152732.5(RSPH9):c.263C>T (p.Ala88Val)
|
rs35110984
|
0.00656
|
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala)
|
rs4150187
|
0.00649
|
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=)
|
rs143147192
|
0.00645
|
NM_018139.3(DNAAF2):c.1626G>C (p.Arg542=)
|
rs35763780
|
0.00645
|
NM_018139.3(DNAAF2):c.728A>C (p.Glu243Ala)
|
rs112044935
|
0.00642
|
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn)
|
rs151099638
|
0.00642
|
NM_001384732.1(CPLANE1):c.*396T>C
|
rs115541718
|
0.00638
|
NM_001243156.2(TAF1C):c.*1033A>G
|
rs4150186
|
0.00632
|
NM_001277115.2(DNAH11):c.6117G>A (p.Ala2039=)
|
rs78763603
|
0.00628
|
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser)
|
rs200876696
|
0.00622
|
NM_001173990.3(TMEM216):c.*21A>G
|
rs111371929
|
0.00615
|
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)
|
rs16931549
|
0.00609
|
NM_031885.5(BBS2):c.*13C>T
|
rs141170836
|
0.00607
|
NM_001277115.2(DNAH11):c.3105G>A (p.Glu1035=)
|
rs191011620
|
0.00599
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
NM_198428.3(BBS9):c.-305T>G
|
rs112060099
|
0.00592
|
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)
|
rs114126795
|
0.00589
|
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=)
|
rs144035254
|
0.00581
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn)
|
rs76334696
|
0.00575
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro)
|
rs61734466
|
0.00572
|
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys)
|
rs34076967
|
0.00563
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_001369.3(DNAH5):c.5115-4G>T
|
rs141141086
|
0.00551
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_001369.3(DNAH5):c.*1156C>T
|
rs115907706
|
0.00534
|
NM_014714.4(IFT140):c.4040+11G>A
|
rs144624901
|
0.00530
|
NM_020779.4(WDR35):c.*531T>A
|
rs187092318
|
0.00530
|
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe)
|
rs61736879
|
0.00529
|
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=)
|
rs77477793
|
0.00527
|
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile)
|
rs142777778
|
0.00526
|
NM_012210.4(TRIM32):c.*692C>G
|
rs116058338
|
0.00526
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)
|
rs79708859
|
0.00517
|
NM_152618.3(BBS12):c.1103G>A (p.Arg368His)
|
rs78457123
|
0.00511
|
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr)
|
rs150920905
|
0.00508
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)
|
rs149313666
|
0.00495
|
NM_001277115.2(DNAH11):c.1885C>T (p.Pro629Ser)
|
rs150966144
|
0.00490
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=)
|
rs143312971
|
0.00478
|
NM_001082538.3(TCTN1):c.-46G>C
|
rs538932401
|
0.00473
|
NM_001010892.3(RSPH4A):c.*491T>C
|
rs116191088
|
0.00466
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
NM_019892.6(INPP5E):c.-31G>C
|
rs554931078
|
0.00466
|
NM_001277115.2(DNAH11):c.2275-15G>T
|
rs60290948
|
0.00458
|
NM_023036.6(DNAI2):c.747C>T (p.Gly249=)
|
rs148488355
|
0.00458
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_001277115.2(DNAH11):c.4726-15T>C
|
rs17144822
|
0.00445
|
NM_153717.3(EVC):c.*2126T>G
|
rs191415414
|
0.00444
|
NM_002055.5(GFAP):c.*1074C>T
|
rs117405516
|
0.00442
|
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)
|
rs77731085
|
0.00439
|
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)
|
rs115967793
|
0.00439
|
NM_015910.7(WDPCP):c.-188G>C
|
rs187916591
|
0.00436
|
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)
|
rs35690634
|
0.00435
|
NM_181426.2(CCDC39):c.233G>A (p.Arg78His)
|
rs115952495
|
0.00435
|
NM_001369.3(DNAH5):c.6062-4G>A
|
rs143392650
|
0.00433
|
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro)
|
rs141149453
|
0.00430
|
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His)
|
rs35851478
|
0.00429
|
NM_024753.5(TTC21B):c.*1225C>T
|
rs60399987
|
0.00424
|
NM_033028.5(BBS4):c.*43G>T
|
rs144706746
|
0.00421
|
NM_001044385.3(TMEM237):c.*3453T>G
|
rs77771615
|
0.00420
|
NM_020800.3(IFT80):c.371-10C>A
|
rs188321058
|
0.00420
|
NM_001044385.3(TMEM237):c.*2137A>G
|
rs115353606
|
0.00418
|
NM_001044385.3(TMEM237):c.*2349C>T
|
rs74884418
|
0.00418
|
NM_001044385.3(TMEM237):c.*3372C>T
|
rs192214909
|
0.00418
|
NM_001384732.1(CPLANE1):c.*807A>G
|
rs78011227
|
0.00418
|
NM_012144.4(DNAI1):c.-116T>C
|
rs62619982
|
0.00418
|
NM_001044385.3(TMEM237):c.*1107C>T
|
rs143516209
|
0.00417
|
NM_001044385.3(TMEM237):c.*1975C>G
|
rs142233268
|
0.00417
|
NM_001044385.3(TMEM237):c.*2719G>A
|
rs142852956
|
0.00417
|
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)
|
rs34324114
|
0.00417
|
NM_001044385.3(TMEM237):c.*2180G>A
|
rs77649251
|
0.00416
|
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn)
|
rs150615436
|
0.00414
|
NM_018139.3(DNAAF2):c.1406G>A (p.Cys469Tyr)
|
rs150737854
|
0.00410
|
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)
|
rs141340867
|
0.00398
|
NM_001044385.3(TMEM237):c.*1588G>A
|
rs150141936
|
0.00396
|
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His)
|
rs183809462
|
0.00395
|
NM_023036.6(DNAI2):c.124G>A (p.Val42Met)
|
rs151176313
|
0.00389
|
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly)
|
rs148891849
|
0.00388
|
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)
|
rs41288017
|
0.00383
|
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr)
|
rs145798624
|
0.00383
|
NM_001044385.3(TMEM237):c.*2431T>G
|
rs142355657
|
0.00379
|
NM_020800.3(IFT80):c.*1089T>C
|
rs181651029
|
0.00377
|
NM_024753.5(TTC21B):c.*656G>A
|
rs180737925
|
0.00376
|
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)
|
rs144567556
|
0.00376
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
NM_018139.3(DNAAF2):c.1851C>T (p.Asn617=)
|
rs147090213
|
0.00373
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_001384732.1(CPLANE1):c.4719C>T (p.Asp1573=)
|
rs143084362
|
0.00368
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_147127.5(EVC2):c.2047-9A>T
|
rs73198154
|
0.00366
|
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys)
|
rs145595957
|
0.00365
|
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)
|
rs112350099
|
0.00359
|
NM_001394148.2(LOC128706665):c.*87A>G
|
rs140884406
|
0.00358
|
NM_147127.5(EVC2):c.2601C>T (p.Ala867=)
|
rs116514447
|
0.00357
|
NM_147127.5(EVC2):c.707-4G>A
|
rs113806963
|
0.00357
|
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn)
|
rs74447004
|
0.00356
|
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys)
|
rs145436538
|
0.00355
|
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
NM_012144.4(DNAI1):c.639G>A (p.Thr213=)
|
rs78865254
|
0.00348
|
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)
|
rs146172074
|
0.00344
|
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met)
|
rs35859404
|
0.00342
|
NM_001044385.3(TMEM237):c.*2480T>G
|
rs75655554
|
0.00337
|
NM_147127.5(EVC2):c.1224C>T (p.Ala408=)
|
rs114629810
|
0.00334
|
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)
|
rs187947581
|
0.00330
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)
|
rs192003811
|
0.00327
|
NM_017777.3(MKS1):c.-64T>C
|
rs372127517
|
0.00325
|
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)
|
rs114764023
|
0.00325
|
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)
|
rs140951974
|
0.00320
|
NM_147127.5(EVC2):c.864C>T (p.Asn288=)
|
rs144730069
|
0.00320
|
NM_144596.4(TTC8):c.1401G>A (p.Pro467=)
|
rs114064158
|
0.00319
|
NM_147127.5(EVC2):c.1471-7T>C
|
rs150842594
|
0.00319
|
NM_001128178.3(NPHP1):c.*194T>C
|
rs189472793
|
0.00318
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00314
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)
|
rs150425546
|
0.00307
|
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)
|
rs143522987
|
0.00307
|
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)
|
rs72657389
|
0.00307
|
NM_001378615.1(CC2D2A):c.-87G>A
|
rs145443888
|
0.00305
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
NM_014714.4(IFT140):c.1541T>A (p.Leu514His)
|
rs150903791
|
0.00297
|
NM_014714.4(IFT140):c.1542C>A (p.Leu514=)
|
rs141542834
|
0.00297
|
NM_014714.4(IFT140):c.2988T>C (p.Asn996=)
|
rs78178397
|
0.00290
|
NM_144596.4(TTC8):c.-25G>A
|
rs7145692
|
0.00290
|
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)
|
rs34352773
|
0.00287
|
NM_018718.3(CEP41):c.*136T>G
|
rs148305542
|
0.00287
|
NM_153717.3(EVC):c.*491C>T
|
rs114993332
|
0.00287
|
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)
|
rs116483694
|
0.00287
|
NM_018718.3(CEP41):c.*4314T>C
|
rs114939029
|
0.00286
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_001384732.1(CPLANE1):c.7234-7C>G
|
rs141575785
|
0.00285
|
NM_020779.4(WDR35):c.2262C>T (p.Asp754=)
|
rs147206032
|
0.00285
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_152618.3(BBS12):c.-61G>C
|
rs59440868
|
0.00282
|
NM_153717.3(EVC):c.*2692G>T
|
rs149155153
|
0.00279
|
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)
|
rs116445698
|
0.00278
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_147127.5(EVC2):c.*207A>G
|
rs73072282
|
0.00270
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=)
|
rs80015876
|
0.00267
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)
|
rs145255635
|
0.00265
|
NM_144596.4(TTC8):c.*93G>A
|
rs116740320
|
0.00263
|
NM_198525.3(KIF7):c.3111+9C>A
|
rs147996726
|
0.00261
|
NM_020779.4(WDR35):c.2964+12C>T
|
rs113663112
|
0.00252
|
NM_025132.4(WDR19):c.-15G>T
|
rs150860929
|
0.00252
|
NM_025132.4(WDR19):c.3183+9G>A
|
rs138318063
|
0.00248
|
NM_025132.4(WDR19):c.2142+12G>A
|
rs149621476
|
0.00246
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_153717.3(EVC):c.532G>A (p.Val178Ile)
|
rs144897690
|
0.00243
|
NM_014714.4(IFT140):c.1524+14C>G
|
rs369481491
|
0.00241
|
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr)
|
rs138161346
|
0.00241
|
NM_019892.6(INPP5E):c.813-5C>G
|
rs186462782
|
0.00238
|
NM_198525.3(KIF7):c.*37G>A
|
rs147387691
|
0.00238
|
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)
|
rs200342335
|
0.00236
|
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)
|
rs139441507
|
0.00235
|
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)
|
rs148242353
|
0.00233
|
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile)
|
rs35301526
|
0.00228
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=)
|
rs79329972
|
0.00226
|
NM_020800.3(IFT80):c.880G>A (p.Val294Ile)
|
rs148926415
|
0.00224
|
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)
|
rs147444165
|
0.00223
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_014714.4(IFT140):c.3874-11C>T
|
rs199887622
|
0.00220
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
NM_001199397.3(NEK1):c.975A>G (p.Gly325=)
|
rs150904906
|
0.00218
|
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)
|
rs200161705
|
0.00216
|
NM_024753.5(TTC21B):c.*1087A>T
|
rs150328867
|
0.00213
|
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)
|
rs180787556
|
0.00212
|
NM_153717.3(EVC):c.1636A>G (p.Met546Val)
|
rs112608085
|
0.00209
|
NM_001044385.3(TMEM237):c.*439G>A
|
rs139374574
|
0.00208
|
NM_001044385.3(TMEM237):c.*634C>T
|
rs139016907
|
0.00207
|
NM_147127.5(EVC2):c.2883A>C (p.Gly961=)
|
rs149188988
|
0.00205
|
NM_001128178.3(NPHP1):c.771+59G>A
|
rs143174377
|
0.00203
|
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)
|
rs145277501
|
0.00203
|
NM_020779.4(WDR35):c.1524+11C>A
|
rs200213874
|
0.00201
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_020779.4(WDR35):c.3121+3G>A
|
rs200042577
|
0.00199
|
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)
|
rs142381345
|
0.00194
|
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)
|
rs150553044
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=)
|
rs184804243
|
0.00188
|
NM_024809.5(TCTN2):c.654C>T (p.Leu218=)
|
rs138897437
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_001384732.1(CPLANE1):c.5738-6C>T
|
rs148634159
|
0.00186
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp)
|
rs139022622
|
0.00172
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)
|
rs35823417
|
0.00168
|
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
|
rs74470618
|
0.00168
|
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn)
|
rs117932646
|
0.00161
|
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)
|
rs76726265
|
0.00161
|
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_018718.3(CEP41):c.*4594C>T
|
rs151309255
|
0.00159
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
NM_020779.4(WDR35):c.*1681A>G
|
rs188310451
|
0.00158
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)
|
rs10034957
|
0.00151
|
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)
|
rs147588666
|
0.00147
|
NM_020779.4(WDR35):c.*601A>G
|
rs182037850
|
0.00146
|
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)
|
rs144701688
|
0.00145
|
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val)
|
rs142663818
|
0.00142
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln)
|
rs61744047
|
0.00127
|
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=)
|
rs145877279
|
0.00120
|
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)
|
rs3756672
|
0.00118
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_153717.3(EVC):c.*2493A>G
|
rs188345323
|
0.00114
|
NM_014714.4(IFT140):c.-4C>T
|
rs140403660
|
0.00112
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met)
|
rs34737149
|
0.00109
|
NM_198525.3(KIF7):c.2861C>T (p.Thr954Met)
|
rs141463861
|
0.00108
|
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)
|
rs181248369
|
0.00106
|
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe)
|
rs188638970
|
0.00103
|
NM_020779.4(WDR35):c.770T>C (p.Val257Ala)
|
rs142955097
|
0.00095
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00093
|
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn)
|
rs142345677
|
0.00093
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
NM_153717.3(EVC):c.*492G>A
|
rs530991301
|
0.00090
|
NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala)
|
rs80237479
|
0.00088
|
NM_015910.7(WDPCP):c.*327G>A
|
rs565212301
|
0.00084
|
NM_006642.5(SDCCAG8):c.-4G>A
|
rs113193158
|
0.00083
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_153717.3(EVC):c.*1976C>T
|
rs56333422
|
0.00082
|
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln)
|
rs61747551
|
0.00081
|
NM_014714.4(IFT140):c.*403G>A
|
rs143732634
|
0.00078
|
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)
|
rs35575973
|
0.00078
|
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys)
|
rs74975451
|
0.00076
|
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)
|
rs146752751
|
0.00076
|
NM_033028.5(BBS4):c.*691G>A
|
rs192812230
|
0.00074
|
NM_153717.3(EVC):c.*994C>T
|
rs547970729
|
0.00071
|
NM_015102.5(NPHP4):c.-90A>T
|
rs527962872
|
0.00070
|
NM_024809.5(TCTN2):c.888G>A (p.Pro296=)
|
rs116845100
|
0.00068
|
NM_001278293.3(ARL6):c.*470G>A
|
rs184213166
|
0.00067
|
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr)
|
rs117896500
|
0.00066
|
NM_023036.6(DNAI2):c.1572G>A (p.Lys524=)
|
rs2279122
|
0.00066
|
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)
|
rs147202164
|
0.00063
|
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)
|
rs118064970
|
0.00062
|
NM_144596.4(TTC8):c.*83A>G
|
rs147325843
|
0.00059
|
NM_024753.5(TTC21B):c.*847A>C
|
rs138656848
|
0.00058
|
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)
|
rs189556433
|
0.00058
|
NM_198525.3(KIF7):c.2077G>T (p.Val693Phe)
|
rs550326630
|
0.00058
|
NM_024649.5(BBS1):c.*219A>G
|
rs74451472
|
0.00057
|
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)
|
rs201354264
|
0.00056
|
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu)
|
rs140384742
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00053
|
NM_018718.3(CEP41):c.*2481T>A
|
rs528289176
|
0.00051
|
NM_015910.7(WDPCP):c.-113C>A
|
rs192963932
|
0.00050
|
NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr)
|
rs35496754
|
0.00049
|
NM_018718.3(CEP41):c.*2896G>A
|
rs147207980
|
0.00048
|
NM_018718.3(CEP41):c.*1534T>C
|
rs149912245
|
0.00047
|
NM_018718.3(CEP41):c.*1567A>C
|
rs139085191
|
0.00047
|
NM_024753.5(TTC21B):c.*516C>T
|
rs185578095
|
0.00047
|
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=)
|
rs140230455
|
0.00046
|
NM_001384732.1(CPLANE1):c.7920C>T (p.Ser2640=)
|
rs141486731
|
0.00045
|
NM_014714.4(IFT140):c.491+7G>A
|
rs187521755
|
0.00045
|
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)
|
rs199708272
|
0.00041
|
NM_017777.4(MKS1):c.*134C>T
|
rs34224064
|
0.00041
|
NM_025132.4(WDR19):c.13+15G>A
|
rs150633358
|
0.00041
|
NM_153717.3(EVC):c.*2310G>A
|
rs539844915
|
0.00041
|
NM_001369.3(DNAH5):c.13125+10T>A
|
rs2277047
|
0.00039
|
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)
|
rs144703991
|
0.00039
|
NM_015102.5(NPHP4):c.3045-5C>T
|
rs2297790
|
0.00038
|
NM_153717.3(EVC):c.1995G>A (p.Ser665=)
|
rs142897994
|
0.00038
|
NM_017950.4(CCDC40):c.*633C>G
|
rs117359231
|
0.00036
|
NM_020779.4(WDR35):c.*763T>C
|
rs560228088
|
0.00036
|
NM_198428.3(BBS9):c.1245C>T (p.Val415=)
|
rs61764066
|
0.00034
|
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys)
|
rs116995413
|
0.00033
|
NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln)
|
rs184555568
|
0.00033
|
NM_153717.3(EVC):c.*2125T>G
|
rs139771274
|
0.00033
|
NM_015272.5(RPGRIP1L):c.*1033G>A
|
rs145688122
|
0.00032
|
NM_198525.3(KIF7):c.516G>A (p.Glu172=)
|
rs199959946
|
0.00032
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile)
|
rs118026202
|
0.00031
|
NM_001384732.1(CPLANE1):c.5820+7C>T
|
rs185534019
|
0.00031
|
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser)
|
rs150999024
|
0.00031
|
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val)
|
rs144335584
|
0.00031
|
NM_198428.3(BBS9):c.*444G>A
|
rs75625812
|
0.00030
|
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=)
|
rs147279669
|
0.00029
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_001199397.3(NEK1):c.*1222T>G
|
rs543801862
|
0.00028
|
NM_018718.3(CEP41):c.*392G>A
|
rs528501184
|
0.00026
|
NM_020779.4(WDR35):c.*807T>C
|
rs555257043
|
0.00026
|
NM_014714.4(IFT140):c.*2G>A
|
rs144879630
|
0.00025
|
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)
|
rs201903713
|
0.00025
|
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)
|
rs201776972
|
0.00025
|
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=)
|
rs201016942
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)
|
rs141979202
|
0.00021
|
NM_198525.3(KIF7):c.612C>T (p.His204=)
|
rs398124613
|
0.00021
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr)
|
rs76626268
|
0.00019
|
NM_001384732.1(CPLANE1):c.82-14G>A
|
rs180804052
|
0.00019
|
NM_015102.5(NPHP4):c.1120-13G>T
|
rs192450719
|
0.00019
|
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr)
|
rs749672769
|
0.00019
|
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met)
|
rs182298453
|
0.00019
|
NM_001199397.3(NEK1):c.-504T>C
|
rs550632789
|
0.00017
|
NM_001377.3(DYNC2H1):c.12457-13T>C
|
rs537890566
|
0.00017
|
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)
|
rs3747834
|
0.00017
|
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys)
|
rs199992272
|
0.00017
|
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=)
|
rs186349183
|
0.00017
|
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=)
|
rs144553338
|
0.00016
|
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=)
|
rs369566680
|
0.00016
|
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser)
|
rs202102193
|
0.00016
|
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=)
|
rs142536967
|
0.00015
|
NM_001173990.2(TMEM216):c.-86G>A
|
rs188478638
|
0.00014
|
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)
|
rs185072004
|
0.00014
|
NM_153717.3(EVC):c.2241G>A (p.Ala747=)
|
rs142094016
|
0.00014
|
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=)
|
rs77896636
|
0.00014
|
NM_001173990.2(TMEM216):c.-135T>C
|
rs183785901
|
0.00013
|
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)
|
rs75602337
|
0.00013
|
NM_178452.6(DNAAF1):c.1030+14C>T
|
rs202113269
|
0.00012
|
NM_178452.6(DNAAF1):c.2107G>A (p.Gly703Arg)
|
rs4150188
|
0.00012
|
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=)
|
rs144673252
|
0.00011
|
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
|
rs199612496
|
0.00011
|
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met)
|
rs146828513
|
0.00011
|
NM_001378615.1(CC2D2A):c.717+11T>C
|
rs184351317
|
0.00011
|
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=)
|
rs181975379
|
0.00011
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)
|
rs778205727
|
0.00010
|
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)
|
rs370400336
|
0.00009
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
NM_001173990.2(TMEM216):c.-91G>A
|
rs557559653
|
0.00009
|
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)
|
rs370492044
|
0.00009
|
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)
|
rs201465430
|
0.00009
|
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys)
|
rs201384469
|
0.00009
|
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met)
|
rs200105743
|
0.00009
|
NM_198428.3(BBS9):c.678A>G (p.Lys226=)
|
rs201231133
|
0.00009
|
NM_153717.3(EVC):c.1564-6C>T
|
rs188245524
|
0.00008
|
NM_018718.3(CEP41):c.*1336A>G
|
rs781954428
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=)
|
rs149259534
|
0.00006
|
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr)
|
rs372976809
|
0.00006
|
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)
|
rs201872547
|
0.00005
|
NM_001384732.1(CPLANE1):c.1136C>T (p.Thr379Met)
|
rs373606997
|
0.00004
|
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala)
|
rs370118778
|
0.00004
|
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp)
|
rs202213517
|
0.00004
|
NM_015102.5(NPHP4):c.1764-5C>T
|
rs370899989
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)
|
rs201998680
|
0.00004
|
NM_023036.6(DNAI2):c.933G>A (p.Lys311=)
|
rs570168701
|
0.00004
|
NM_000549.5(TSHB):c.223A>G (p.Arg75Gly)
|
rs201857310
|
0.00003
|
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly)
|
rs35763578
|
0.00003
|
NM_001394148.2(LOC128706665):c.-22+2430T>G
|
rs377246386
|
0.00003
|
NM_014714.4(IFT140):c.*429C>T
|
rs192256907
|
0.00003
|
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu)
|
rs576113399
|
0.00003
|
NM_198428.3(BBS9):c.1606C>T (p.Leu536=)
|
rs576401162
|
0.00003
|
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=)
|
rs529083217
|
0.00002
|
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)
|
rs373718642
|
0.00002
|
NM_001010892.3(RSPH4A):c.*8A>G
|
rs575857124
|
0.00001
|
NM_001128178.3(NPHP1):c.-17G>A
|
rs566875282
|
0.00001
|
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=)
|
rs548684868
|
0.00001
|
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr)
|
rs577165880
|
0.00001
|
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys)
|
rs543224510
|
0.00001
|
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)
|
rs193922693
|
0.00001
|
NM_015102.5(NPHP4):c.3645-15C>T
|
rs558429618
|
0.00001
|
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu)
|
rs539769126
|
0.00001
|
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)
|
rs546463648
|
0.00001
|
NM_031885.3(BBS2):c.-199A>T
|
rs569642995
|
0.00001
|
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)
|
rs185178790
|
0.00001
|
NM_033028.5(BBS4):c.*522A>G
|
rs531501103
|
0.00001
|
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)
|
rs555666020
|
0.00001
|
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu)
|
rs565633539
|
0.00001
|
NM_000152.5(GAA):c.-75C>G
|
rs80020206
|
|
NM_001009894.3(RLIG1):c.*743_*746del
|
rs142288119
|
|
NM_001044385.3(TMEM237):c.*2142G>C
|
rs76042698
|
|
NM_001044385.3(TMEM237):c.-25G>A
|
rs568671275
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
NM_001082538.3(TCTN1):c.473-6_473-4del
|
rs10577377
|
|
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)
|
rs199736888
|
|
NM_001173990.3(TMEM216):c.-24C>G
|
rs59493015
|
|
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001277115.2(DNAH11):c.11202+7C>A
|
rs73279826
|
|
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile)
|
rs12537531
|
|
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=)
|
rs56333627
|
|
NM_001277115.2(DNAH11):c.9561G>A (p.Leu3187=)
|
rs6965750
|
|
NM_001278293.3(ARL6):c.-27-1461A>T
|
rs143739859
|
|
NM_001369.3(DNAH5):c.3835-3del
|
rs35398031
|
|
NM_001369.3(DNAH5):c.4807C>A (p.Pro1603Thr)
|
rs369137751
|
|
NM_001377.3(DYNC2H1):c.7540+14G>A
|
rs115273161
|
|
NM_001377.3(DYNC2H1):c.7540+14G>T
|
rs115273161
|
|
NM_001378454.1(ALMS1):c.10297A>G (p.Thr3433Ala)
|
rs750493624
|
|
NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=)
|
rs886038613
|
|
NM_001378454.1(ALMS1):c.5780G>A (p.Gly1927Asp)
|
rs886056304
|
|
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr)
|
rs886038615
|
|
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)
|
rs16892134
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001384732.1(CPLANE1):c.*423C>G
|
rs190089842
|
|
NM_001384732.1(CPLANE1):c.4190-10_4190-9del
|
rs111508546
|
|
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His)
|
rs547409263
|
|
NM_001384732.1(CPLANE1):c.8633-3del
|
rs34646696
|
|
NM_002408.4(MGAT2):c.-351G>T
|
rs116136260
|
|
NM_006642.5(SDCCAG8):c.*97G>A
|
rs554190542
|
|
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)
|
rs11547035
|
|
NM_015102.5(NPHP4):c.136-4del
|
rs143323188
|
|
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)
|
rs560944258
|
|
NM_015120.4(ALMS1):c.-39CTC[4]
|
rs746980000
|
|
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys)
|
rs59978698
|
|
NM_018718.2(CEP41):c.-178C>T
|
rs10230670
|
|
NM_018719.5(CDCA7L):c.*879G>C
|
rs62445901
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG
|
rs71269007
|
|
NM_020779.4(WDR35):c.*573A>T
|
rs140069324
|
|
NM_020779.4(WDR35):c.*998A>G
|
rs530093062
|
|
NM_020800.3(IFT80):c.2224-10del
|
rs58665245
|
|
NM_020800.3(IFT80):c.282G>A (p.Lys94=)
|
rs548358266
|
|
NM_024753.5(TTC21B):c.2569-10dup
|
rs144600502
|
|
NM_031427.4(DNAL1):c.*6015_*6016del
|
rs10594595
|
|
NM_031427.4(DNAL1):c.*6163_*6164insTGCACG
|
rs1555340583
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_152259.4(TICRR):c.*911dup
|
rs113145397
|
|
NM_153717.3(EVC):c.*1314G>A
|
rs567979829
|
|
NM_153717.3(EVC):c.*1439C>T
|
rs188270163
|
|
NM_153717.3(EVC):c.2895-10_2895-9del
|
rs371125826
|
|
NM_170784.3(MKKS):c.-649+2202_-649+2204dup
|
rs143825746
|
|
NM_181426.2(CCDC39):c.1363-13del
|
rs374074877
|
|
NM_181426.2(CCDC39):c.1363-23dup
|
rs374074877
|
|
NM_181426.2(CCDC39):c.2408G>A (p.Cys803Tyr)
|
rs561458801
|
|
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)
|
rs142032413
|
|