NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
NM_015512.5(DNAH1):c.7805+13A>G
|
rs770284
|
0.99996
|
NM_001384732.1(CPLANE1):c.81+20=
|
rs6876576
|
0.99994
|
NM_001352754.2(ARMC9):c.538A>G (p.Ile180Val)
|
rs1626450
|
0.99989
|
NM_024649.5(BBS1):c.-72C>G
|
rs1791688
|
0.99902
|
NM_016169.4(SUFU):c.*20T>G
|
rs4917980
|
0.99823
|
NM_004311.4(ARL3):c.264+49_264+50del
|
rs59504153
|
0.99810
|
NM_145038.5(DRC1):c.1195T>C (p.Trp399Arg)
|
rs939820
|
0.99790
|
NM_001270974.2(HYDIN):c.7364C>A (p.Pro2455Gln)
|
rs1798531
|
0.99691
|
NM_052844.4(DYNC2I2):c.178T>G (p.Trp60Gly)
|
rs4837292
|
0.99672
|
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=)
|
rs1748971
|
0.99666
|
NM_024753.5(TTC21B):c.430-42C>T
|
rs10930190
|
0.99611
|
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)
|
rs4784677
|
0.99534
|
NM_145038.5(DRC1):c.1824= (p.Glu608=)
|
rs1402962
|
0.99433
|
NM_198428.3(BBS9):c.1330-62C>T
|
rs9785054
|
0.99266
|
NM_001277115.2(DNAH11):c.1956C>T (p.Phe652=)
|
rs6963535
|
0.99232
|
NM_018051.5(DYNC2I1):c.675C>G (p.Asn225Lys)
|
rs2709859
|
0.99194
|
NM_001372.4(DNAH9):c.1334A>G (p.Gln445Arg)
|
rs9892256
|
0.99167
|
NM_017802.4(DNAAF5):c.905+107T>C
|
rs62432212
|
0.98810
|
NM_017950.4(CCDC40):c.207G>C (p.Val69=)
|
rs2289527
|
0.98631
|
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala)
|
rs1617510
|
0.97670
|
NM_000549.5(TSHB):c.40A>G (p.Thr14Ala)
|
rs10776792
|
0.97659
|
NM_001329943.3(KIAA0586):c.1254-25G>A
|
rs1743721
|
0.97577
|
NM_001329943.3(KIAA0586):c.2254+25A>G
|
rs1743716
|
0.97575
|
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro)
|
rs1748986
|
0.97574
|
NM_198428.3(BBS9):c.1329+1606C>T
|
rs6974593
|
0.97489
|
NM_014714.4(IFT140):c.2768+184A>G
|
rs2745178
|
0.97367
|
NM_020779.4(WDR35):c.2824-14G>T
|
rs1191779
|
0.96807
|
NM_025132.4(WDR19):c.603+23C>T
|
rs1451817
|
0.96807
|
NM_014714.4(IFT140):c.3270+19T>C
|
rs2745176
|
0.96626
|
NM_014956.5(CEP164):c.4299G>T (p.Ser1433=)
|
rs522885
|
0.96045
|
NM_033028.5(BBS4):c.906T>C (p.Phe302=)
|
rs12914333
|
0.95849
|
NM_033028.5(BBS4):c.1036+114G>A
|
rs9806635
|
0.95845
|
NM_023036.6(DNAI2):c.1722+78G>A
|
rs1979371
|
0.95718
|
NM_023036.6(DNAI2):c.345+27A>G
|
rs6501706
|
0.95682
|
NM_033028.5(BBS4):c.1248+68G>A
|
rs12324395
|
0.95651
|
NM_153717.3(EVC):c.769C>T (p.Leu257=)
|
rs6446393
|
0.95639
|
NM_001378615.1(CC2D2A):c.4065+28A>T
|
rs6832789
|
0.95451
|
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala)
|
rs7592429
|
0.95088
|
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=)
|
rs585692
|
0.94841
|
NM_002645.4(PIK3C2A):c.1239A>G (p.Ala413=)
|
rs2302511
|
0.94735
|
NM_033028.5(BBS4):c.77-6G>A
|
rs8033604
|
0.94438
|
NM_033028.5(BBS4):c.76+19G>T
|
rs4777527
|
0.94399
|
NM_012210.4(TRIM32):c.*129C>T
|
rs3019
|
0.93964
|
NM_001377.3(DYNC2H1):c.9107+34G>A
|
rs670464
|
0.93561
|
NM_014956.5(CEP164):c.1482T>C (p.Pro494=)
|
rs897836
|
0.93246
|
NM_145045.5(ODAD3):c.366+7=
|
rs34094
|
0.93215
|
NM_001369.3(DNAH5):c.36T>G (p.His12Gln)
|
rs339445
|
0.92715
|
NM_025114.4(CEP290):c.6645+67G>A
|
rs2471512
|
0.92687
|
NM_001278293.3(ARL6):c.*225G>C
|
rs4857294
|
0.92035
|
NM_014704.4(CEP104):c.1836+7A>G
|
rs6413779
|
0.91575
|
NM_014704.4(CEP104):c.744A>G (p.Glu248=)
|
rs1891941
|
0.91572
|
NM_014704.4(CEP104):c.1837-28G>C
|
rs2275826
|
0.91566
|
NM_001199397.3(NEK1):c.*165G>A
|
rs4692721
|
0.91298
|
NM_152384.3(BBS5):c.-40G>C
|
rs1879466
|
0.90865
|
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)
|
rs8037349
|
0.90740
|
NM_198075.4(LRRC56):c.1182-22T>C
|
rs3740652
|
0.89233
|
NM_198075.4(LRRC56):c.*23C>G
|
rs10902172
|
0.89042
|
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly)
|
rs2037814
|
0.87820
|
NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_198075.4(LRRC56):c.423+30C>G
|
rs11246180
|
0.85979
|
NM_018051.5(DYNC2I1):c.2547-22_2547-21insC
|
rs34181207
|
0.85394
|
NM_198525.3(KIF7):c.2658A>C (p.Ala886=)
|
rs3803531
|
0.85312
|
NM_018051.5(DYNC2I1):c.2073A>G (p.Lys691=)
|
rs2730238
|
0.85247
|
NM_001378615.1(CC2D2A):c.247+26A>G
|
rs10000250
|
0.85216
|
NM_023036.6(DNAI2):c.1722+41C>T
|
rs4239009
|
0.84832
|
NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=)
|
rs6505592
|
0.84626
|
NM_001378183.1(PIEZO2):c.2492+48del
|
rs3830641
|
0.84419
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
NM_001173990.3(TMEM216):c.432-11_432-10insA
|
rs11382548
|
0.83974
|
NM_001378183.1(PIEZO2):c.4708+18C>T
|
rs5024299
|
0.83716
|
NM_001378183.1(PIEZO2):c.3036A>G (p.Thr1012=)
|
rs7227167
|
0.83322
|
NM_017802.4(DNAAF5):c.1257+13A>G
|
rs34761279
|
0.83091
|
NM_017802.4(DNAAF5):c.*139A>G
|
rs62432897
|
0.83080
|
NM_052844.4(DYNC2I2):c.309T>C (p.Tyr103=)
|
rs2298045
|
0.82136
|
NM_001134831.2(AHI1):c.1780-14C>T
|
rs2757645
|
0.81825
|
NM_001378183.1(PIEZO2):c.3867C>T (p.Asn1289=)
|
rs7407105
|
0.81713
|
NM_001378183.1(PIEZO2):c.3451-28T>C
|
rs2865119
|
0.81541
|
NM_015272.5(RPGRIP1L):c.1104-82C>T
|
rs4133017
|
0.80982
|
NM_014875.3(KIF14):c.3096A>G (p.Glu1032=)
|
rs6665951
|
0.79936
|
NM_001277115.2(DNAH11):c.3112A>G (p.Thr1038Ala)
|
rs10224537
|
0.79851
|
NM_001199397.3(NEK1):c.2765-20G>A
|
rs7680152
|
0.79844
|
NM_198075.4(LRRC56):c.1567G>C (p.Asp523His)
|
rs10902171
|
0.79385
|
NM_176824.3(BBS7):c.1891-12C>A
|
rs2706793
|
0.79185
|
NM_001277115.2(DNAH11):c.3630G>A (p.Gln1210=)
|
rs3827657
|
0.78845
|
NM_001378183.1(PIEZO2):c.3081C>T (p.Leu1027=)
|
rs7241380
|
0.78175
|
NM_016616.5(NME8):c.622T>C (p.Cys208Arg)
|
rs10250905
|
0.77615
|
NM_024685.4(BBS10):c.*1051C>T
|
rs3087711
|
0.77456
|
NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr)
|
rs1979370
|
0.77449
|
NM_017802.4(DNAAF5):c.1932-67T>C
|
rs4719279
|
0.77396
|
NM_198075.4(LRRC56):c.384C>T (p.Leu128=)
|
rs7942030
|
0.77229
|
NM_017802.4(DNAAF5):c.2432-40T>C
|
rs67721251
|
0.77187
|
NM_025114.4(CEP290):c.2818-50G>C
|
rs2471532
|
0.76931
|
NM_018051.5(DYNC2I1):c.2372-9C>T
|
rs2244789
|
0.76494
|
NM_017802.4(DNAAF5):c.906-4T>G
|
rs6943337
|
0.76245
|
NM_023036.6(DNAI2):c.1722+34G>A
|
rs4239008
|
0.75821
|
NM_153717.3(EVC):c.*2417T>C
|
rs6848370
|
0.75819
|
NM_001177701.3(IFT27):c.174+21G>A
|
rs1048012
|
0.75738
|
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln)
|
rs589623
|
0.75293
|
NM_001378615.1(CC2D2A):c.1764+45T>G
|
rs1558572
|
0.75139
|
NM_016004.5(IFT52):c.159G>A (p.Val53=)
|
rs2664519
|
0.74971
|
NM_001369.3(DNAH5):c.277+118A>G
|
rs12659700
|
0.74880
|
NM_001372.4(DNAH9):c.6330C>T (p.Asn2110=)
|
rs3744578
|
0.73791
|
NM_001134831.2(AHI1):c.10+115C>A
|
rs9402709
|
0.73311
|
NM_001173990.3(TMEM216):c.*558G>A
|
rs7607
|
0.73129
|
NM_015650.4(TRAF3IP1):c.69C>A (p.Thr23=)
|
rs13398676
|
0.72529
|
NM_052844.4(DYNC2I2):c.873C>T (p.Thr291=)
|
rs4837291
|
0.72271
|
NM_001277115.2(DNAH11):c.11298T>C (p.His3766=)
|
rs4722067
|
0.72158
|
NM_153717.3(EVC):c.2305-8T>C
|
rs1031919
|
0.72106
|
NM_153717.3(EVC):c.772T>C (p.Tyr258His)
|
rs6414624
|
0.72068
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_001375405.1(CEP120):c.2826T>C (p.Asp942=)
|
rs1047438
|
0.71935
|
NM_153717.3(EVC):c.2894+18A>G
|
rs2279250
|
0.71871
|
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)
|
rs12952612
|
0.71802
|
NM_030578.4(B9D2):c.-5+107G>A
|
rs2241712
|
0.71256
|
NM_030578.4(B9D2):c.33A>G (p.Ile11Met)
|
rs2241714
|
0.71244
|
NM_018139.3(DNAAF2):c.*328A>T
|
rs12160
|
0.70946
|
NM_001378183.1(PIEZO2):c.7952+33C>T
|
rs487037
|
0.70798
|
NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=)
|
rs2985686
|
0.70412
|
NM_052844.4(DYNC2I2):c.627G>A (p.Gln209=)
|
rs10760570
|
0.70085
|
NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro)
|
rs784133
|
0.69639
|
NM_000660.6(TGFB1):c.-1347T>C
|
rs1800469
|
0.69508
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
NM_001277115.2(DNAH11):c.12493A>G (p.Met4165Val)
|
rs6461613
|
0.69063
|
NM_001378615.1(CC2D2A):c.3595-55C>G
|
rs4280723
|
0.69017
|
NM_003114.5(SPAG1):c.1688+42T>C
|
rs2919471
|
0.68499
|
NM_001378615.1(CC2D2A):c.3288+41A>C
|
rs13116304
|
0.68417
|
NM_016169.4(SUFU):c.1365+19T>C
|
rs12414407
|
0.68248
|
NM_014704.4(CEP104):c.2151+43A>G
|
rs2275832
|
0.67501
|
NM_153717.3(EVC):c.939+10A>G
|
rs2286342
|
0.67122
|
NM_014704.4(CEP104):c.2662+62A>G
|
rs6703035
|
0.67052
|
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg)
|
rs688906
|
0.66697
|
NM_024649.5(BBS1):c.*7A>G
|
rs8432
|
0.66464
|
NM_145038.5(DRC1):c.1397-15A>G
|
rs4072407
|
0.66267
|
NM_030578.4(B9D2):c.214+25T>G
|
rs11668109
|
0.66244
|
NM_017950.4(CCDC40):c.2450-89A>C
|
rs11150839
|
0.65974
|
NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp)
|
rs2985684
|
0.65918
|
NM_018139.3(DNAAF2):c.498C>T (p.Ala166=)
|
rs2985685
|
0.65889
|
NM_017950.4(CCDC40):c.2450-53G>A
|
rs11150840
|
0.65886
|
NM_018139.3(DNAAF2):c.1482A>G (p.Thr494=)
|
rs2985687
|
0.65543
|
NM_153704.6(TMEM67):c.1066-3C>T
|
rs3097427
|
0.65135
|
NM_014704.4(CEP104):c.2663-91G>A
|
rs4233019
|
0.65061
|
NM_014704.4(CEP104):c.2663-22A>G
|
rs4648409
|
0.65055
|
NM_001044385.3(TMEM237):c.274+23A>G
|
rs1208081
|
0.64988
|
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)
|
rs3134031
|
0.64845
|
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=)
|
rs4543051
|
0.64838
|
NM_017802.4(DNAAF5):c.2228G>A (p.Arg743Lys)
|
rs3922641
|
0.64560
|
NM_014804.3(KIAA0753):c.*21A>G
|
rs3744720
|
0.64487
|
NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg)
|
rs1443417
|
0.64459
|
NM_014804.3(KIAA0753):c.1397T>C (p.Leu466Pro)
|
rs2289642
|
0.64436
|
NM_001378183.1(PIEZO2):c.4514+32C>T
|
rs8093389
|
0.64387
|
NM_003114.5(SPAG1):c.2330T>C (p.Met777Thr)
|
rs6511
|
0.64386
|
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=)
|
rs586592
|
0.64171
|
NM_017802.4(DNAAF5):c.2083-31G>A
|
rs34943122
|
0.64150
|
NM_016616.5(NME8):c.1544+22G>A
|
rs10261071
|
0.63994
|
NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=)
|
rs8096037
|
0.63926
|
NM_001277115.2(DNAH11):c.7776C>T (p.His2592=)
|
rs1109806
|
0.63800
|
NM_015910.7(WDPCP):c.1915+13G>A
|
rs992214
|
0.63738
|
NM_147127.5(EVC2):c.*384T>A
|
rs2287576
|
0.63456
|
NM_006651.4(CPLX1):c.32-112A>G
|
rs2306250
|
0.62923
|
NM_024753.5(TTC21B):c.601G>A (p.Val201Met)
|
rs1432273
|
0.61903
|
NM_014804.3(KIAA0753):c.1716T>C (p.Ala572=)
|
rs4796519
|
0.61864
|
NM_017802.4(DNAAF5):c.1932-35G>A
|
rs62432869
|
0.61848
|
NM_153717.3(EVC):c.*14G>A
|
rs2291151
|
0.61437
|
NM_183065.4(TMEM107):c.256+46C>G
|
rs8064449
|
0.61047
|
NM_153717.3(EVC):c.802-15C>T
|
rs4689313
|
0.60798
|
NM_001369.3(DNAH5):c.11761+93G>T
|
rs6554808
|
0.60670
|
NM_014956.5(CEP164):c.3090-16A>C
|
rs693147
|
0.60559
|
NM_017868.4(TTC12):c.504+8G>A
|
rs2303380
|
0.60533
|
NM_001369.3(DNAH5):c.11762-45T>C
|
rs3777093
|
0.60391
|
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)
|
rs1800470
|
0.60129
|
NM_015693.4(INTU):c.813G>A (p.Thr271=)
|
rs4833380
|
0.59996
|
NM_198525.3(KIF7):c.1788+13T>C
|
rs1110060
|
0.59982
|
NM_080860.4(RSPH1):c.727+46G>A
|
rs11702140
|
0.59955
|
NM_001364171.2(ODAD1):c.2019T>C (p.Ser673=)
|
rs7252988
|
0.59744
|
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=)
|
rs658804
|
0.59243
|
NM_198075.4(LRRC56):c.899G>A (p.Arg300His)
|
rs4963198
|
0.59216
|
NM_030578.4(B9D2):c.-4-40C>G
|
rs2241713
|
0.59207
|
NM_001134831.2(AHI1):c.3426+13G>A
|
rs6914831
|
0.59084
|
NM_001277115.2(DNAH11):c.11691-19A>G
|
rs4995598
|
0.58246
|
NM_153614.4(DNAJB13):c.279T>C (p.His93=)
|
rs653263
|
0.57865
|
NM_002645.4(PIK3C2A):c.*13T>C
|
rs10832733
|
0.57555
|
NM_001277115.2(DNAH11):c.11122G>T (p.Val3708Leu)
|
rs4722064
|
0.57409
|
NM_015681.6(B9D1):c.472+28C>T
|
rs4924987
|
0.57381
|
NM_001270974.2(HYDIN):c.6917A>G (p.Glu2306Gly)
|
rs2502726
|
0.57263
|
NM_020779.4(WDR35):c.25-46G>A
|
rs3731663
|
0.57247
|
NM_001369.3(DNAH5):c.11570+35A>G
|
rs3734109
|
0.57196
|
NM_198525.3(KIF7):c.3112-11_3112-10insCT
|
rs35820949
|
0.57089
|
NM_001378615.1(CC2D2A):c.*21G>C
|
rs1134634
|
0.57021
|
NM_015910.7(WDPCP):c.1624+24T>A
|
rs2138796
|
0.56759
|
NM_032930.3(CFAP300):c.192+59A>C
|
rs7934495
|
0.56242
|
NM_015681.6(B9D1):c.63+23G>A
|
rs10445411
|
0.56182
|
NM_153717.3(EVC):c.*931T>C
|
rs6840435
|
0.56030
|
NM_153717.3(EVC):c.939+63C>A
|
rs13145958
|
0.55696
|
NM_015693.4(INTU):c.471A>G (p.Arg157=)
|
rs3749507
|
0.55539
|
NM_001369.3(DNAH5):c.13724-35T>A
|
rs2166337
|
0.55064
|
NM_014956.5(CEP164):c.766-36T>A
|
rs2305826
|
0.54836
|
NM_001377.3(DYNC2H1):c.12156+23G>A
|
rs2671333
|
0.54518
|
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=)
|
rs2566913
|
0.54510
|
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys)
|
rs1052161
|
0.54502
|
NM_033028.5(BBS4):c.643-102T>C
|
rs6495015
|
0.54330
|
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=)
|
rs7966867
|
0.54127
|
NM_018718.3(CEP41):c.*5102G>A
|
rs1990790
|
0.54035
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
NM_017777.4(MKS1):c.750-105T>C
|
rs3744105
|
0.53777
|
NM_023036.6(DNAI2):c.-54A>G
|
rs1877687
|
0.53697
|
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=)
|
rs9672286
|
0.53592
|
NM_198525.3(KIF7):c.2896-14G>A
|
rs9672296
|
0.53577
|
NM_018076.5(ODAD2):c.1387-42T>C
|
rs34084011
|
0.53358
|
NM_001277115.2(DNAH11):c.7901A>G (p.Asn2634Ser)
|
rs9639393
|
0.53316
|
NM_014875.3(KIF14):c.4020G>A (p.Glu1340=)
|
rs7543730
|
0.53314
|
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val)
|
rs3734110
|
0.53284
|
NM_001369.3(DNAH5):c.2229T>C (p.Asp743=)
|
rs1445823
|
0.53068
|
NM_001378615.1(CC2D2A):c.1765-24A>G
|
rs1861044
|
0.52969
|
NM_001190787.3(MCIDAS):c.831C>T (p.Cys277=)
|
rs6879219
|
0.52860
|
NM_153717.3(EVC):c.1098+51A>T
|
rs4688961
|
0.52782
|
NM_153717.3(EVC):c.1026G>C (p.Leu342=)
|
rs4688962
|
0.52761
|
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)
|
rs2277598
|
0.52665
|
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)
|
rs12900805
|
0.52523
|
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)
|
rs3803530
|
0.52464
|
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)
|
rs35578653
|
0.52425
|
NM_025132.4(WDR19):c.*229C>T
|
rs7564
|
0.52060
|
NM_016343.4(CENPF):c.8186G>A (p.Arg2729Gln)
|
rs335524
|
0.51917
|
NM_012472.6(DNAAF11):c.695C>T (p.Thr232Ile)
|
rs2293979
|
0.51887
|
NM_001378454.1(ALMS1):c.11873-12T>C
|
rs1320374
|
0.51648
|
NM_025132.4(WDR19):c.3716+46dup
|
rs11096989
|
0.51347
|
NM_025132.4(WDR19):c.3841-27T>C
|
rs12648082
|
0.51304
|
NM_018076.5(ODAD2):c.2058T>C (p.Asn686=)
|
rs7893462
|
0.51292
|
NM_001206927.2(DNAH8):c.10141-4del
|
rs11291395
|
0.51174
|
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=)
|
rs2288019
|
0.51121
|
NM_001377.3(DYNC2H1):c.12366+7G>A
|
rs10895417
|
0.51079
|
NM_016343.4(CENPF):c.8827A>G (p.Arg2943Gly)
|
rs438034
|
0.51075
|
NM_024809.5(TCTN2):c.1099+19T>C
|
rs7137946
|
0.50815
|
NM_024809.5(TCTN2):c.891+22T>C
|
rs7302449
|
0.50676
|
NM_023036.6(DNAI2):c.1062A>G (p.Glu354=)
|
rs8073660
|
0.50668
|
NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu)
|
rs4701997
|
0.50396
|
NM_001277115.2(DNAH11):c.4377+15A>G
|
rs57208694
|
0.50202
|
NM_001369.3(DNAH5):c.*1048A>G
|
rs2896111
|
0.49736
|
NM_153240.4(NPHP3):c.-69A>G
|
rs13099099
|
0.49619
|
NM_001378454.1(ALMS1):c.764+20T>A
|
rs1881246
|
0.49506
|
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)
|
rs2304854
|
0.49481
|
NM_014804.3(KIAA0753):c.1330G>A (p.Asp444Asn)
|
rs2289643
|
0.49475
|
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)
|
rs7598901
|
0.49457
|
NM_001243156.2(TAF1C):c.*1064G>A
|
rs8692
|
0.49327
|
NM_017950.4(CCDC40):c.*149T>C
|
rs2304852
|
0.48973
|
NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=)
|
rs7703349
|
0.48933
|
NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=)
|
rs3734111
|
0.48605
|
NM_018051.5(DYNC2I1):c.2778+36T>A
|
rs2657331
|
0.48169
|
NM_130810.4(DNAAF4):c.572A>G (p.Glu191Gly)
|
rs600753
|
0.47545
|
NM_015662.3(IFT172):c.2116-31T>C
|
rs780107
|
0.47348
|
NM_015662.3(IFT172):c.1829+12G>A
|
rs1647276
|
0.47329
|
NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg)
|
rs573455
|
0.47249
|
NM_016616.5(NME8):c.1247+25A>G
|
rs2242027
|
0.47134
|
NM_023036.6(DNAI2):c.1347+7C>T
|
rs2290955
|
0.46912
|
NM_016169.4(SUFU):c.182+16C>T
|
rs2274351
|
0.46492
|
NM_018076.5(ODAD2):c.1387-40C>T
|
rs34717952
|
0.46114
|
NM_001369.3(DNAH5):c.13491+66T>C
|
rs3734112
|
0.45951
|
NM_016616.5(NME8):c.1140-10T>G
|
rs1530822
|
0.45910
|
NM_001277115.2(DNAH11):c.705C>T (p.Asn235=)
|
rs10950854
|
0.45869
|
NM_014714.4(IFT140):c.3454-48A>G
|
rs932391
|
0.45637
|
NM_198428.3(BBS9):c.*110C>T
|
rs1050721
|
0.45573
|
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala)
|
rs730469
|
0.45556
|
NM_152618.3(BBS12):c.*811C>G
|
rs309386
|
0.45540
|
NM_020779.4(WDR35):c.2496A>G (p.Glu832=)
|
rs6741091
|
0.45165
|
NM_001277115.2(DNAH11):c.2454A>G (p.Ala818=)
|
rs4615458
|
0.44959
|
NM_012144.4(DNAI1):c.1489+130G>A
|
rs9657620
|
0.44707
|
NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val)
|
rs2285944
|
0.44667
|
NM_001277115.2(DNAH11):c.100G>T (p.Glu34Ter)
|
rs2285943
|
0.44658
|
NM_012144.4(DNAI1):c.902-125G>T
|
rs4878575
|
0.44633
|
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val)
|
rs30168
|
0.44440
|
NM_014714.4(IFT140):c.-17G>C
|
rs1894649
|
0.44364
|
NM_001375405.1(CEP120):c.816C>T (p.His272=)
|
rs6876883
|
0.44294
|
NM_018051.5(DYNC2I1):c.818A>G (p.Gln273Arg)
|
rs2788478
|
0.43909
|
NM_014714.4(IFT140):c.148-22A>T
|
rs2236269
|
0.43860
|
NM_017802.4(DNAAF5):c.1895T>C (p.Val632Ala)
|
rs4720951
|
0.43572
|
NM_001369.3(DNAH5):c.1320+269T>A
|
rs12654693
|
0.43546
|
NM_001369.3(DNAH5):c.1503T>C (p.Ile501=)
|
rs3213936
|
0.43495
|
NM_001369.3(DNAH5):c.1320+73T>C
|
rs13179761
|
0.43433
|
NM_001369.3(DNAH5):c.1198-24C>A
|
rs13180591
|
0.43394
|
NM_001369.3(DNAH5):c.1198-45A>G
|
rs13162553
|
0.43382
|
NM_017802.4(DNAAF5):c.1784-1298C>G
|
rs6946758
|
0.43082
|
NM_001277115.2(DNAH11):c.6469-17A>G
|
rs1023542
|
0.43069
|
NM_014714.4(IFT140):c.1968T>C (p.Ser656=)
|
rs8048410
|
0.42981
|
NM_024809.5(TCTN2):c.891+7G>A
|
rs7313032
|
0.42667
|
NM_002645.4(PIK3C2A):c.3681+46G>A
|
rs2052188
|
0.42654
|
NM_001329943.3(KIAA0586):c.4495+3795T>C
|
rs28535751
|
0.42605
|
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)
|
rs10781542
|
0.42574
|
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)
|
rs10870194
|
0.42571
|
NM_001277115.2(DNAH11):c.6274-13T>G
|
rs2965401
|
0.42569
|
NM_002645.4(PIK3C2A):c.270T>C (p.Ile90=)
|
rs214936
|
0.42543
|
NM_001206927.2(DNAH8):c.7680C>T (p.Val2560=)
|
rs6458080
|
0.42260
|
NM_001206927.2(DNAH8):c.5769C>T (p.His1923=)
|
rs2061907
|
0.42221
|
NM_001277115.2(DNAH11):c.7290C>T (p.Phe2430=)
|
rs12536928
|
0.42173
|
NM_001206927.2(DNAH8):c.7569G>A (p.Lys2523=)
|
rs9380795
|
0.42138
|
NM_001369.3(DNAH5):c.3397-51T>C
|
rs10513159
|
0.42101
|
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)
|
rs309370
|
0.42071
|
NM_153717.3(EVC):c.*2617G>A
|
rs3733186
|
0.41865
|
NM_001369.3(DNAH5):c.1644+444C>T
|
rs9312852
|
0.41821
|
NM_006642.5(SDCCAG8):c.-47T>A
|
rs3904682
|
0.41725
|
NM_153717.3(EVC):c.*2713C>T
|
rs3733188
|
0.41663
|
NM_001372.4(DNAH9):c.10243-26G>A
|
rs7211854
|
0.41639
|
NM_001369.3(DNAH5):c.6687+110A>G
|
rs10035657
|
0.41445
|
NM_001394966.1(NEK10):c.1674A>G (p.Gly558=)
|
rs674303
|
0.41443
|
NM_198525.3(KIF7):c.*344T>C
|
rs1054435
|
0.41372
|
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=)
|
rs10927011
|
0.41204
|
NM_001369.3(DNAH5):c.192+14C>G
|
rs1530497
|
0.41173
|
NM_019892.6(INPP5E):c.*328T>C
|
rs35763810
|
0.41134
|
NM_001206927.2(DNAH8):c.3071G>A (p.Gly1024Glu)
|
rs874808
|
0.40927
|
NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)
|
rs9989177
|
0.40859
|
NM_198428.3(BBS9):c.*103T>C
|
rs1050719
|
0.40841
|
NM_176824.3(BBS7):c.1890+16G>A
|
rs1507994
|
0.40768
|
NM_153717.3(EVC):c.969T>C (p.Asn323=)
|
rs4688963
|
0.40746
|
NM_001369.3(DNAH5):c.5710-58G>A
|
rs9312849
|
0.40656
|
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg)
|
rs6724782
|
0.40522
|
NM_024753.5(TTC21B):c.2138+48G>A
|
rs7590559
|
0.40515
|
NM_001206927.2(DNAH8):c.13119A>G (p.Leu4373=)
|
rs3737094
|
0.40497
|
NM_001206927.2(DNAH8):c.13054-17T>C
|
rs3737095
|
0.40469
|
NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=)
|
rs10041113
|
0.40226
|
NM_001369.3(DNAH5):c.5115-5T>C
|
rs4429853
|
0.40224
|
NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=)
|
rs1348689
|
0.40167
|
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val)
|
rs6546838
|
0.40153
|
NM_019892.6(INPP5E):c.*703A>G
|
rs1128874
|
0.40097
|
NM_019892.6(INPP5E):c.*816A>G
|
rs8413
|
0.40078
|
NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=)
|
rs30169
|
0.40053
|
NM_001270974.2(HYDIN):c.-82A>T
|
rs12449210
|
0.40012
|
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser)
|
rs2056486
|
0.39967
|
NM_001377.3(DYNC2H1):c.10043-15G>T
|
rs648387
|
0.39966
|
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser)
|
rs10193972
|
0.39950
|
NM_001369.3(DNAH5):c.6444+11C>T
|
rs1348691
|
0.39914
|
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu)
|
rs1530496
|
0.39883
|
NM_001369.3(DNAH5):c.6842-78C>T
|
rs6889720
|
0.39778
|
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala)
|
rs6546837
|
0.39736
|
NM_002408.4(MGAT2):c.-234T>C
|
rs7519
|
0.39580
|
NM_001369.3(DNAH5):c.4054-59T>C
|
rs11748811
|
0.39508
|
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=)
|
rs6554827
|
0.39500
|
NM_001375405.1(CEP120):c.1804C>G (p.Leu602Val)
|
rs6595440
|
0.39494
|
NM_001277115.2(DNAH11):c.4449T>C (p.Ile1483=)
|
rs56029521
|
0.39493
|
NM_001369.3(DNAH5):c.4796+41G>A
|
rs7704417
|
0.39490
|
NM_001369.3(DNAH5):c.4796+57A>C
|
rs7724453
|
0.39443
|
NM_001369.3(DNAH5):c.4053+64G>A
|
rs1445810
|
0.39405
|
NM_015272.5(RPGRIP1L):c.2959-32G>A
|
rs7203525
|
0.39281
|
NM_017868.4(TTC12):c.217A>C (p.Met73Leu)
|
rs723077
|
0.39224
|
NM_001369.3(DNAH5):c.12910-11C>T
|
rs30175
|
0.39090
|
NM_018718.3(CEP41):c.-5A>C
|
rs2287371
|
0.39010
|
NM_014704.4(CEP104):c.2152-11C>T
|
rs6663840
|
0.38899
|
NM_001372.4(DNAH9):c.10855T>C (p.Leu3619=)
|
rs8070256
|
0.38845
|
NM_001270974.2(HYDIN):c.4475C>A (p.Pro1492His)
|
rs78763837
|
0.38686
|
NM_001364171.2(ODAD1):c.1582-16T>C
|
rs2292113
|
0.38553
|
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=)
|
rs1052162
|
0.38498
|
NM_001206927.2(DNAH8):c.5467-19G>A
|
rs9369085
|
0.38324
|
NM_017950.4(CCDC40):c.*186A>C
|
rs2304851
|
0.38175
|
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=)
|
rs6546836
|
0.38173
|
NM_014804.3(KIAA0753):c.69C>T (p.Ser23=)
|
rs2301873
|
0.38122
|
NM_001277115.2(DNAH11):c.10399G>A (p.Ala3467Thr)
|
rs2214326
|
0.38066
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)
|
rs6546839
|
0.38002
|
NM_015272.5(RPGRIP1L):c.*737T>G
|
rs3760008
|
0.37956
|
NM_015272.5(RPGRIP1L):c.*55T>A
|
rs4784319
|
0.37955
|
NM_015272.5(RPGRIP1L):c.*1693G>A
|
rs1946155
|
0.37946
|
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg)
|
rs17856705
|
0.37821
|
NM_015662.3(IFT172):c.3915T>A (p.Ser1305=)
|
rs56076827
|
0.37673
|
NM_001199397.3(NEK1):c.*495T>C
|
rs1129694
|
0.37477
|
NM_001369.3(DNAH5):c.7609+19C>T
|
rs35732567
|
0.37414
|
NM_153717.3(EVC):c.1099-19T>C
|
rs899691
|
0.37351
|
NM_001364171.2(ODAD1):c.1404+8A>G
|
rs8111947
|
0.37323
|
NM_001369.3(DNAH5):c.5114+11T>C
|
rs6554820
|
0.37240
|
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=)
|
rs3747992
|
0.36928
|
NM_001369.3(DNAH5):c.4796+264A>C
|
rs7724087
|
0.36921
|
NM_014714.4(IFT140):c.-31-52T>A
|
rs743963
|
0.36752
|
NM_001481.3(GAS8):c.597A>G (p.Glu199=)
|
rs868045
|
0.36742
|
NM_023036.6(DNAI2):c.-11-67A>G
|
rs3803792
|
0.36694
|
NM_001369.3(DNAH5):c.4797-29C>A
|
rs1502043
|
0.36619
|
NM_001378183.1(PIEZO2):c.7190+29A>G
|
rs11661737
|
0.36619
|
NM_024809.5(TCTN2):c.*468C>T
|
rs7398298
|
0.36606
|
NM_016343.4(CENPF):c.2890C>T (p.Leu964=)
|
rs3795521
|
0.36604
|
NM_018718.3(CEP41):c.*4295G>C
|
rs4728195
|
0.36596
|
NM_016343.4(CENPF):c.33G>A (p.Gly11=)
|
rs2070064
|
0.36558
|
NM_001277115.2(DNAH11):c.4945-34A>G
|
rs11769118
|
0.36553
|
NM_001256715.2(DNAAF3):c.1239-8A>G
|
rs28377509
|
0.36480
|
NM_001378183.1(PIEZO2):c.6976-47G>C
|
rs868525
|
0.36451
|
NM_001378183.1(PIEZO2):c.7349+7C>T
|
rs3748422
|
0.36363
|
NM_152773.5(DYNLT2B):c.113+17C>G
|
rs2270769
|
0.36200
|
NM_024809.5(TCTN2):c.1393+7C>T
|
rs7298440
|
0.36136
|
NM_016343.4(CENPF):c.7186A>G (p.Asn2396Asp)
|
rs3748697
|
0.36093
|
NM_001372.4(DNAH9):c.429C>T (p.Pro143=)
|
rs11078022
|
0.35841
|
NM_018051.5(DYNC2I1):c.2094+24A>G
|
rs6459913
|
0.35665
|
NM_017950.4(CCDC40):c.*15T>C
|
rs2304853
|
0.35502
|
NM_001372.4(DNAH9):c.9247-17G>A
|
rs3744585
|
0.35370
|
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)
|
rs56407805
|
0.35335
|
NM_001369.3(DNAH5):c.9721-12A>T
|
rs12655133
|
0.35219
|
NM_000363.5(TNNI3):c.25-8T>A
|
rs3729836
|
0.35138
|
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=)
|
rs555164
|
0.35094
|
NM_015631.6(TCTN3):c.603T>A (p.Thr201=)
|
rs10786229
|
0.35079
|
NM_017950.4(CCDC40):c.553-41A>G
|
rs7207441
|
0.34994
|
NM_017950.4(CCDC40):c.676+13T>C
|
rs7212525
|
0.34974
|
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=)
|
rs2401809
|
0.34838
|
NM_017777.4(MKS1):c.261+67A>G
|
rs7225148
|
0.34782
|
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=)
|
rs6750044
|
0.34586
|
NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala)
|
rs1530498
|
0.34505
|
NM_001375405.1(CEP120):c.1431-9A>T
|
rs3893854
|
0.34483
|
NM_017868.4(TTC12):c.827-16T>G
|
rs10891537
|
0.34454
|
NM_014714.4(IFT140):c.*59T>C
|
rs1053730
|
0.34440
|
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala)
|
rs10269582
|
0.34362
|
NM_001369.3(DNAH5):c.5272-39T>A
|
rs1910089
|
0.34183
|
NM_181426.2(CCDC39):c.1359C>T (p.Ser453=)
|
rs6769457
|
0.33560
|
NM_153717.3(EVC):c.939+4C>T
|
rs2286343
|
0.33466
|
NM_001369.3(DNAH5):c.5114+22A>T
|
rs4701988
|
0.33456
|
NM_024649.5(BBS1):c.*955G>A
|
rs1791686
|
0.33323
|
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=)
|
rs10176588
|
0.33260
|
NM_025132.4(WDR19):c.3183+16A>G
|
rs11096987
|
0.33074
|
NM_023036.6(DNAI2):c.865-5A>G
|
rs8076337
|
0.32904
|
NM_014704.4(CEP104):c.1240T>A (p.Leu414Ile)
|
rs2275824
|
0.32901
|
NM_003114.5(SPAG1):c.1097-20C>T
|
rs3098659
|
0.32731
|
NM_033124.5(CCDC65):c.398A>G (p.His133Arg)
|
rs10747556
|
0.32513
|
NM_080860.4(RSPH1):c.393G>A (p.Ala131=)
|
rs2839536
|
0.32419
|
NM_033124.5(CCDC65):c.933A>G (p.Arg311=)
|
rs10875893
|
0.32404
|
NM_033124.5(CCDC65):c.1176C>A (p.Thr392=)
|
rs10875894
|
0.32390
|
NM_033124.5(CCDC65):c.1223A>G (p.Tyr408Cys)
|
rs4760600
|
0.32366
|
NM_080860.4(RSPH1):c.-43C>T
|
rs1573413
|
0.32304
|
NM_014804.3(KIAA0753):c.1125A>T (p.Glu375Asp)
|
rs9889363
|
0.32226
|
NM_017950.4(CCDC40):c.3180+45A>G
|
rs59252872
|
0.32210
|
NM_001372.4(DNAH9):c.9247-14C>T
|
rs3744586
|
0.32085
|
NM_023036.6(DNAI2):c.865-81C>T
|
rs34880269
|
0.31881
|
NM_006346.4(PIBF1):c.499A>G (p.Ile167Val)
|
rs1372000
|
0.31812
|
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser)
|
rs6778728
|
0.31629
|
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)
|
rs1191778
|
0.31383
|
NM_176824.3(BBS7):c.-133C>G
|
rs2271176
|
0.31261
|
NM_024809.5(TCTN2):c.*155G>A
|
rs12811354
|
0.31018
|
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=)
|
rs6554812
|
0.30832
|
NM_001369.3(DNAH5):c.10102-29C>T
|
rs6554813
|
0.30675
|
NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile)
|
rs7234309
|
0.30463
|
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu)
|
rs11644164
|
0.30436
|
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=)
|
rs11884776
|
0.30410
|
NM_014714.4(IFT140):c.2253T>C (p.Pro751=)
|
rs2076436
|
0.30184
|
NM_025132.4(WDR19):c.891C>T (p.Cys297=)
|
rs2167494
|
0.30055
|
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val)
|
rs10895391
|
0.29753
|
NM_017651.4(AHI1):c.-293G>T
|
rs13197384
|
0.29491
|
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)
|
rs891187
|
0.29351
|
NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=)
|
rs2277860
|
0.29299
|
NM_176824.3(BBS7):c.*419T>A
|
rs3762840
|
0.29292
|
NM_003114.5(SPAG1):c.2715G>A (p.Ser905=)
|
rs1788190
|
0.28744
|
NM_012210.4(TRIM32):c.*1206T>C
|
rs2281627
|
0.28741
|
NM_147127.5(EVC2):c.3507C>T (p.His1169=)
|
rs12511039
|
0.28547
|
NM_014804.3(KIAA0753):c.1697C>T (p.Pro566Leu)
|
rs2304977
|
0.28533
|
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr)
|
rs2288023
|
0.28462
|
NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser)
|
rs2305830
|
0.28431
|
NM_178452.6(DNAAF1):c.1898T>C (p.Leu633Ser)
|
rs2288020
|
0.28427
|
NM_178452.6(DNAAF1):c.1976T>C (p.Leu659Pro)
|
rs2288022
|
0.28412
|
NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala)
|
rs12120084
|
0.28388
|
NM_016616.5(NME8):c.177C>T (p.Asp59=)
|
rs2598044
|
0.28287
|
NM_001394966.1(NEK10):c.-37-9A>C
|
rs12494966
|
0.28273
|
NM_016616.5(NME8):c.128G>A (p.Arg43Lys)
|
rs2722372
|
0.28270
|
NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28069
|
NM_001378183.1(PIEZO2):c.1379-47T>C
|
rs56112279
|
0.27943
|
NM_001378183.1(PIEZO2):c.1528-41T>C
|
rs6505594
|
0.27928
|
NM_147127.5(EVC2):c.1437A>G (p.Glu479=)
|
rs13131655
|
0.27893
|
NM_018719.5(CDCA7L):c.*980T>C
|
rs7971
|
0.27747
|
NM_178452.6(DNAAF1):c.1698+7G>T
|
rs3826151
|
0.27717
|
NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=)
|
rs3748421
|
0.27525
|
NM_153717.3(EVC):c.1563+1771A>G
|
rs6828631
|
0.27419
|
NM_001134831.2(AHI1):c.*218C>T
|
rs1052502
|
0.27386
|
NM_001077418.3(TMEM231):c.582+17T>A
|
rs2738801
|
0.27293
|
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)
|
rs7260320
|
0.27290
|
NM_012210.4(TRIM32):c.-133G>C
|
rs12342207
|
0.27173
|
NM_015631.6(TCTN3):c.1204-43T>C
|
rs17461546
|
0.27142
|
NM_176824.3(BBS7):c.*690T>C
|
rs3217753
|
0.26976
|
NM_001369.3(DNAH5):c.3175-34G>A
|
rs13170062
|
0.26940
|
NM_198428.3(BBS9):c.1275+13G>T
|
rs11981364
|
0.26909
|
NM_153717.3(EVC):c.1068A>G (p.Leu356=)
|
rs33929747
|
0.26691
|
NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=)
|
rs7227022
|
0.26688
|
NM_001378615.1(CC2D2A):c.3595-22C>T
|
rs4280724
|
0.26375
|
NM_213607.3(CCDC103):c.*4G>A
|
rs8079308
|
0.26209
|
NM_018139.3(DNAAF2):c.*126T>A
|
rs8952
|
0.26193
|
NM_006642.5(SDCCAG8):c.1473+48dup
|
rs398050192
|
0.26150
|
NM_016343.4(CENPF):c.1482C>G (p.His494Gln)
|
rs2070065
|
0.26083
|
NM_023036.6(DNAI2):c.-72_-63del
|
rs5822035
|
0.25810
|
NM_153717.3(EVC):c.*2268G>A
|
rs4261923
|
0.25768
|
NM_016343.4(CENPF):c.4543G>A (p.Ala1515Thr)
|
rs2666839
|
0.25667
|
NM_001378183.1(PIEZO2):c.7349+31A>C
|
rs3748423
|
0.25652
|
NM_020779.4(WDR35):c.*523G>A
|
rs957614
|
0.25621
|
NM_020779.4(WDR35):c.*231C>A
|
rs1056233
|
0.25618
|
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp)
|
rs2275155
|
0.25552
|
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr)
|
rs17849995
|
0.25469
|
NM_198525.3(KIF7):c.3517+6C>T
|
rs74251725
|
0.25419
|
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=)
|
rs10057007
|
0.25350
|
NM_016616.5(NME8):c.1478T>C (p.Ile493Thr)
|
rs56128139
|
0.25213
|
NM_016616.5(NME8):c.1479A>T (p.Ile493=)
|
rs41276027
|
0.25198
|
NM_001277115.2(DNAH11):c.13162+23C>A
|
rs55714084
|
0.25104
|
NM_001206927.2(DNAH8):c.1516-20T>C
|
rs2448401
|
0.25016
|
NM_024649.5(BBS1):c.1180+116T>C
|
rs3819247
|
0.24920
|
NM_198525.3(KIF7):c.3319-30A>C
|
rs72750748
|
0.24857
|
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)
|
rs2365725
|
0.24847
|
NM_014714.4(IFT140):c.4041-44T>C
|
rs2076434
|
0.24775
|
NM_001256715.2(DNAAF3):c.790-14C>T
|
rs7260371
|
0.24759
|
NM_002645.4(PIK3C2A):c.3036-37C>A
|
rs147891939
|
0.24758
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
NM_015512.5(DNAH1):c.6957C>T (p.His2319=)
|
rs1546737
|
0.23926
|
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe)
|
rs10513155
|
0.23716
|
NM_001369.3(DNAH5):c.7230+32A>G
|
rs56046501
|
0.23667
|
NM_024753.5(TTC21B):c.*1105G>T
|
rs6756388
|
0.23631
|
NM_001394966.1(NEK10):c.1791T>C (p.Asn597=)
|
rs10510594
|
0.23526
|
NM_018718.3(CEP41):c.*4037A>G
|
rs7793239
|
0.23508
|
NM_001394966.1(NEK10):c.1538T>C (p.Leu513Ser)
|
rs10510592
|
0.23482
|
NM_001394966.1(NEK10):c.2010C>A (p.Thr670=)
|
rs11129280
|
0.23477
|
NM_014714.4(IFT140):c.147+109G>A
|
rs7192480
|
0.23445
|
NM_024649.5(BBS1):c.*840A>G
|
rs3741360
|
0.23322
|
NM_001277115.2(DNAH11):c.5621+11A>T
|
rs59447021
|
0.23311
|
NM_001394966.1(NEK10):c.2247C>G (p.Val749=)
|
rs17680166
|
0.23262
|
NM_001394966.1(NEK10):c.2869+140C>T
|
rs17854381
|
0.23113
|
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=)
|
rs33982662
|
0.22912
|
NM_001394966.1(NEK10):c.2505+22G>T
|
rs11926556
|
0.22899
|
NM_001364171.2(ODAD1):c.666-4G>A
|
rs56177753
|
0.22751
|
NM_001364171.2(ODAD1):c.1514C>T (p.Pro505Leu)
|
rs35461177
|
0.22721
|
NM_016616.5(NME8):c.1603T>C (p.Leu535=)
|
rs3213975
|
0.22683
|
NM_001369.3(DNAH5):c.975+30A>C
|
rs35925547
|
0.22429
|
NM_015272.5(RPGRIP1L):c.1401+127A>G
|
rs7192060
|
0.22379
|
NM_001077418.3(TMEM231):c.-6G>C
|
rs3743602
|
0.21908
|
NM_014956.5(CEP164):c.281G>A (p.Ser94Asn)
|
rs490262
|
0.21761
|
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly)
|
rs4689278
|
0.21710
|
NM_015631.6(TCTN3):c.1453-28A>G
|
rs12784530
|
0.21461
|
NM_001034853.2(RPGR):c.29-15G>A
|
rs6651585
|
0.21451
|
NM_153717.3(EVC):c.939+114G>A
|
rs28609792
|
0.21365
|
NM_001206927.2(DNAH8):c.4300T>C (p.Leu1434=)
|
rs1678729
|
0.21311
|
NM_024649.5(BBS1):c.518+55C>T
|
rs2276406
|
0.21160
|
NM_024649.5(BBS1):c.378G>A (p.Leu126=)
|
rs2298806
|
0.21158
|
NM_024649.5(BBS1):c.1608+95C>T
|
rs2305532
|
0.21152
|
NM_176824.3(BBS7):c.*1286G>A
|
rs1507996
|
0.21106
|
NM_153717.3(EVC):c.*1318G>C
|
rs67547790
|
0.21091
|
NM_152618.3(BBS12):c.-124G>A
|
rs309358
|
0.21071
|
NM_152618.3(BBS12):c.-10-41A>T
|
rs309368
|
0.21057
|
NM_001206927.2(DNAH8):c.8154C>T (p.Tyr2718=)
|
rs4714192
|
0.20785
|
NM_001277115.2(DNAH11):c.7335G>A (p.Ser2445=)
|
rs11768670
|
0.20699
|
NM_198075.4(LRRC56):c.729G>A (p.Pro243=)
|
rs35537971
|
0.20649
|
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg)
|
rs10078391
|
0.20605
|
NM_144596.4(TTC8):c.*238G>A
|
rs1048190
|
0.20574
|
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)
|
rs8179065
|
0.20556
|
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)
|
rs11373
|
0.20545
|
NM_152618.3(BBS12):c.*248G>A
|
rs4833843
|
0.20459
|
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)
|
rs73125627
|
0.20422
|
NM_001372.4(DNAH9):c.6584A>G (p.Asn2195Ser)
|
rs3744581
|
0.20356
|
NM_153717.3(EVC):c.801+240C>T
|
rs1480169
|
0.20327
|
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)
|
rs11793196
|
0.20136
|
NM_000328.3(RPGR):c.2241+11T>C
|
rs4084271
|
0.20121
|
NM_001378183.1(PIEZO2):c.2947-36G>A
|
rs7507093
|
0.20120
|
NM_153717.3(EVC):c.1465-47A>C
|
rs4642178
|
0.20086
|
NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln)
|
rs4796901
|
0.20035
|
NM_016343.4(CENPF):c.5310T>A (p.His1770Gln)
|
rs3748693
|
0.20011
|
NM_015272.5(RPGRIP1L):c.3432+67G>A
|
rs113961478
|
0.19784
|
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=)
|
rs12574626
|
0.19492
|
NM_017950.4(CCDC40):c.677-4C>G
|
rs2289530
|
0.19337
|
NM_014714.4(IFT140):c.2919C>T (p.Ala973=)
|
rs2235640
|
0.19119
|
NM_017950.4(CCDC40):c.1159+12C>T
|
rs2289533
|
0.19106
|
NM_001364171.2(ODAD1):c.1404+20C>A
|
rs8111297
|
0.19051
|
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)
|
rs13135445
|
0.19015
|
NM_181426.2(CCDC39):c.2397G>A (p.Val799=)
|
rs7612917
|
0.19015
|
NM_015512.5(DNAH1):c.3964A>C (p.Arg1322=)
|
rs11714402
|
0.18733
|
NM_015631.6(TCTN3):c.500-11A>T
|
rs11188434
|
0.18618
|
NM_130810.4(DNAAF4):c.1249G>T (p.Glu417Ter)
|
rs57809907
|
0.18601
|
NM_018718.3(CEP41):c.*2041G>A
|
rs73152868
|
0.18522
|
NM_170784.3(MKKS):c.117C>T (p.Pro39=)
|
rs16991547
|
0.18435
|
NM_001010892.3(RSPH4A):c.1667G>A (p.Arg556His)
|
rs6927567
|
0.18378
|
NM_001010892.3(RSPH4A):c.*465T>C
|
rs6925922
|
0.18366
|
NM_014714.4(IFT140):c.635-12G>C
|
rs12447357
|
0.18304
|
NM_017950.4(CCDC40):c.3022-48C>T
|
rs72849388
|
0.18249
|
NM_018051.5(DYNC2I1):c.1921+24A>G
|
rs10279428
|
0.18135
|
NM_001364171.2(ODAD1):c.696G>T (p.Leu232=)
|
rs28582401
|
0.18009
|
NM_001372.4(DNAH9):c.2929-18G>A
|
rs73975043
|
0.17999
|
NM_024649.5(BBS1):c.1413C>T (p.Leu471=)
|
rs3816492
|
0.17957
|
NM_001364171.2(ODAD1):c.918C>T (p.Asp306=)
|
rs2242463
|
0.17921
|
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)
|
rs6820907
|
0.17921
|
NM_023036.6(DNAI2):c.1483G>A (p.Val495Ile)
|
rs28725418
|
0.17848
|
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys)
|
rs10076911
|
0.17594
|
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr)
|
rs11773504
|
0.17589
|
NM_153717.3(EVC):c.301-80G>A
|
rs2276875
|
0.17578
|
NM_020800.3(IFT80):c.1926+13T>C
|
rs3737214
|
0.17528
|
NM_015102.5(NPHP4):c.1441+13A>G
|
rs7520105
|
0.17476
|
NM_001199397.3(NEK1):c.*710A>G
|
rs13212
|
0.17144
|
NM_018718.3(CEP41):c.*1859G>T
|
rs73152869
|
0.17105
|
NM_024753.5(TTC21B):c.*517G>A
|
rs77199262
|
0.16849
|
NM_181426.2(CCDC39):c.*546A>C
|
rs141409397
|
0.16785
|
NM_018051.5(DYNC2I1):c.2976C>T (p.Val992=)
|
rs34634437
|
0.16768
|
NM_024753.5(TTC21B):c.*531A>G
|
rs56115495
|
0.16645
|
NM_001377.3(DYNC2H1):c.11256+18C>T
|
rs11225674
|
0.16562
|
NM_003114.5(SPAG1):c.991G>A (p.Glu331Lys)
|
rs17335870
|
0.16498
|
NM_003114.5(SPAG1):c.939+13T>C
|
rs3802149
|
0.16494
|
NM_153717.3(EVC):c.1563+1897C>T
|
rs56328334
|
0.16475
|
NM_020800.3(IFT80):c.*42G>A
|
rs16831149
|
0.16470
|
NM_003114.5(SPAG1):c.1059_1060insGAC (p.Lys353_Ser354insAsp)
|
rs56246127
|
0.16465
|
NM_031885.5(BBS2):c.613-54C>G
|
rs4784675
|
0.16235
|
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val)
|
rs2288021
|
0.16102
|
NM_152618.3(BBS12):c.1380G>C (p.Val460=)
|
rs13135766
|
0.16051
|
NM_001375405.1(CEP120):c.2637G>C (p.Gln879His)
|
rs1047437
|
0.15997
|
NM_198428.3(BBS9):c.-407C>G
|
rs3750123
|
0.15979
|
NM_198428.3(BBS9):c.263+39A>G
|
rs17169881
|
0.15964
|
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)
|
rs13135778
|
0.15902
|
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)
|
rs13102440
|
0.15807
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
NM_018718.3(CEP41):c.*1931C>T
|
rs17133175
|
0.15684
|
NM_015512.5(DNAH1):c.11402G>A (p.Gly3801Asp)
|
rs12163565
|
0.15635
|
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr)
|
rs9297853
|
0.15619
|
NM_012144.4(DNAI1):c.1019+42C>T
|
rs10814116
|
0.15511
|
NM_198428.3(BBS9):c.-12+7T>C
|
rs1468797
|
0.15207
|
NM_001384732.1(CPLANE1):c.5901-3T>C
|
rs10805625
|
0.15103
|
NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg)
|
rs12670130
|
0.14853
|
NM_015910.7(WDPCP):c.1916-6C>T
|
rs2421862
|
0.14640
|
NM_001364171.2(ODAD1):c.1606G>T (p.Ala536Ser)
|
rs61747754
|
0.14598
|
NM_018051.5(DYNC2I1):c.1137+23T>C
|
rs842703
|
0.14437
|
NM_006346.4(PIBF1):c.672+38G>A
|
rs9543124
|
0.14429
|
NM_181426.2(CCDC39):c.1248A>G (p.Glu416=)
|
rs2338436
|
0.14399
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
NM_001481.3(GAS8):c.495+16G>A
|
rs3785182
|
0.14325
|
NM_001481.3(GAS8):c.132C>T (p.Arg44=)
|
rs2302513
|
0.14320
|
NM_001378454.1(ALMS1):c.*267T>A
|
rs62149804
|
0.14287
|
NM_001206927.2(DNAH8):c.13462A>G (p.Ile4488Val)
|
rs10484847
|
0.14280
|
NM_017802.4(DNAAF5):c.1269C>T (p.Ser423=)
|
rs73036225
|
0.14212
|
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys)
|
rs1547
|
0.14159
|
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)
|
rs1545
|
0.14147
|
NM_170784.3(MKKS):c.*435G>A
|
rs6108549
|
0.14136
|
NM_170784.3(MKKS):c.*392T>C
|
rs2294901
|
0.14121
|
NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu)
|
rs3795958
|
0.14109
|
NM_170784.3(MKKS):c.534C>T (p.Ile178=)
|
rs17852625
|
0.14082
|
NM_170784.3(MKKS):c.985+16T>G
|
rs6133917
|
0.14080
|
NM_001206927.2(DNAH8):c.4255G>A (p.Glu1419Lys)
|
rs9357283
|
0.14060
|
NM_001206927.2(DNAH8):c.12451+13A>G
|
rs10947765
|
0.14048
|
NM_001206927.2(DNAH8):c.3034+19G>A
|
rs56247993
|
0.14007
|
NM_153717.3(EVC):c.*748T>C
|
rs62297707
|
0.13967
|
NM_181426.2(CCDC39):c.1528-43A>G
|
rs73051767
|
0.13950
|
NM_152618.3(BBS12):c.1398C>T (p.Gly466=)
|
rs2292493
|
0.13826
|
NM_001277115.2(DNAH11):c.11202+13G>A
|
rs73279830
|
0.13824
|
NM_001034853.2(RPGR):c.1245+16A>G
|
rs5918522
|
0.13807
|
NM_001206927.2(DNAH8):c.3034+9T>C
|
rs12192604
|
0.13807
|
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr)
|
rs10496192
|
0.13807
|
NM_001378615.1(CC2D2A):c.2182-24C>T
|
rs2041673
|
0.13698
|
NM_016616.5(NME8):c.840A>G (p.Arg280=)
|
rs62001868
|
0.13654
|
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=)
|
rs6794496
|
0.13621
|
NM_001377.3(DYNC2H1):c.11649+12C>A
|
rs79978663
|
0.13559
|
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn)
|
rs3820700
|
0.13432
|
NM_001382391.1(CSPP1):c.2392-17C>T
|
rs58448590
|
0.13329
|
NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg)
|
rs117385282
|
0.13197
|
NM_001034853.2(RPGR):c.2341G>A (p.Ala781Thr)
|
rs5917557
|
0.13157
|
NM_153717.3(EVC):c.*210C>A
|
rs16837692
|
0.13049
|
NM_153717.3(EVC):c.*1218C>T
|
rs12501119
|
0.13032
|
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His)
|
rs2017116
|
0.13007
|
NM_001378615.1(CC2D2A):c.2830-38G>T
|
rs35309200
|
0.12892
|
NM_023036.6(DNAI2):c.834C>T (p.Thr278=)
|
rs34159194
|
0.12850
|
NM_014704.4(CEP104):c.566+6A>T
|
rs72848418
|
0.12842
|
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His)
|
rs16933182
|
0.12797
|
NM_001206927.2(DNAH8):c.12968C>T (p.Thr4323Met)
|
rs1537232
|
0.12781
|
NM_153717.3(EVC):c.*3165T>C
|
rs3755847
|
0.12593
|
NM_213607.3(CCDC103):c.276+6T>C
|
rs74349463
|
0.12539
|
NM_145038.5(DRC1):c.2105G>T (p.Ser702Ile)
|
rs3172008
|
0.12500
|
NM_001206927.2(DNAH8):c.2368A>G (p.Ile790Val)
|
rs3823430
|
0.12450
|
NM_031924.8(RSPH3):c.212G>A (p.Arg71Gln)
|
rs34582178
|
0.12441
|
NM_014956.5(CEP164):c.1935-5C>G
|
rs897837
|
0.12409
|
NM_031924.8(RSPH3):c.1194A>G (p.Glu398=)
|
rs3756988
|
0.12408
|
NM_031924.8(RSPH3):c.1127G>A (p.Gly376Asp)
|
rs3756987
|
0.12406
|
NM_001369.3(DNAH5):c.4053+32C>T
|
rs13156044
|
0.12402
|
NM_001206927.2(DNAH8):c.1549T>C (p.Tyr517His)
|
rs61748600
|
0.12351
|
NM_023036.6(DNAI2):c.610+31G>A
|
rs62065707
|
0.12287
|
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=)
|
rs4392792
|
0.12205
|
NM_153717.3(EVC):c.*2680G>A
|
rs3733187
|
0.12188
|
NM_153717.3(EVC):c.*2871C>T
|
rs3733189
|
0.12083
|
NM_018076.5(ODAD2):c.1238G>A (p.Arg413Gln)
|
rs7920186
|
0.12038
|
NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=)
|
rs12687163
|
0.12023
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met)
|
rs60684213
|
0.11874
|
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)
|
rs1801686
|
0.11812
|
NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=)
|
rs2072220
|
0.11781
|
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=)
|
rs3747990
|
0.11763
|
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=)
|
rs12120967
|
0.11732
|
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=)
|
rs55666134
|
0.11626
|
NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His)
|
rs9488991
|
0.11561
|
NM_025132.4(WDR19):c.852A>G (p.Ser284=)
|
rs17584431
|
0.11533
|
NM_018718.3(CEP41):c.*3887C>G
|
rs62471754
|
0.11370
|
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys)
|
rs62441683
|
0.11359
|
NM_147127.5(EVC2):c.2061T>C (p.Arg687=)
|
rs73198153
|
0.11242
|
NM_001369.3(DNAH5):c.12034-24T>C
|
rs17203442
|
0.11146
|
NM_001206927.2(DNAH8):c.5196T>C (p.Pro1732=)
|
rs1678744
|
0.11133
|
NM_002645.4(PIK3C2A):c.4243A>G (p.Thr1415Ala)
|
rs11604561
|
0.11089
|
NM_147127.5(EVC2):c.519+15G>A
|
rs17688121
|
0.11080
|
NM_024753.5(TTC21B):c.*878A>G
|
rs62177807
|
0.11039
|
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)
|
rs4784320
|
0.10935
|
NM_016343.4(CENPF):c.3097G>A (p.Gly1033Arg)
|
rs3795518
|
0.10931
|
NM_016343.4(CENPF):c.1806A>G (p.Leu602=)
|
rs2070066
|
0.10927
|
NM_024685.4(BBS10):c.*769G>C
|
rs73383520
|
0.10902
|
NM_153717.3(EVC):c.802-15del
|
rs369153323
|
0.10885
|
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
|
rs2111119
|
0.10881
|
NM_198428.3(BBS9):c.-259G>A
|
rs73095326
|
0.10731
|
NM_023036.6(DNAI2):c.467+77G>T
|
rs12452656
|
0.10701
|
NM_001206927.2(DNAH8):c.5541C>T (p.Ala1847=)
|
rs1678746
|
0.10646
|
NM_001206927.2(DNAH8):c.13215-15C>T
|
rs12210777
|
0.10623
|
NM_031924.8(RSPH3):c.176A>G (p.Asn59Ser)
|
rs16889320
|
0.10595
|
NM_031924.8(RSPH3):c.1063C>T (p.Leu355=)
|
rs12191022
|
0.10590
|
NM_012210.4(TRIM32):c.1254G>A (p.Val418=)
|
rs1661300
|
0.10569
|
NM_001369.3(DNAH5):c.3834+40C>T
|
rs35621834
|
0.10565
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
NM_001277115.2(DNAH11):c.3256-10C>G
|
rs17745898
|
0.10468
|
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile)
|
rs17263496
|
0.10451
|
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu)
|
rs75589774
|
0.10422
|
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=)
|
rs11225584
|
0.10418
|
NM_031924.8(RSPH3):c.890T>C (p.Met297Thr)
|
rs768994
|
0.10330
|
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)
|
rs10870199
|
0.10324
|
NM_020779.4(WDR35):c.3121+12A>C
|
rs28502265
|
0.10214
|
NM_020779.4(WDR35):c.*1050T>C
|
rs10197890
|
0.10201
|
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro)
|
rs11553577
|
0.10199
|
NM_020779.4(WDR35):c.*98T>C
|
rs6748924
|
0.10155
|
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=)
|
rs17394217
|
0.10011
|
NM_153717.3(EVC):c.249A>G (p.Ser83=)
|
rs35870680
|
0.09998
|
NM_001277115.2(DNAH11):c.54C>T (p.Thr18=)
|
rs2285942
|
0.09968
|
NM_017950.4(CCDC40):c.873C>T (p.Phe291=)
|
rs2289531
|
0.09951
|
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala)
|
rs2277046
|
0.09802
|
NM_152618.3(BBS12):c.1200G>A (p.Val400=)
|
rs309371
|
0.09713
|
NM_001378615.1(CC2D2A):c.2003+19C>T
|
rs17476642
|
0.09677
|
NM_001199397.3(NEK1):c.2255A>G (p.Glu752Gly)
|
rs34099167
|
0.09622
|
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)
|
rs1801688
|
0.09526
|
NM_181426.2(CCDC39):c.2301G>A (p.Leu767=)
|
rs11914833
|
0.09489
|
NM_025103.4(IFT74):c.1790C>T (p.Thr597Ile)
|
rs3429
|
0.09433
|
NM_001206927.2(DNAH8):c.2292T>C (p.Gly764=)
|
rs1678664
|
0.09366
|
NM_001034853.2(RPGR):c.1572+11A>G
|
rs62635008
|
0.09352
|
NM_025103.4(IFT74):c.254A>G (p.Lys85Arg)
|
rs11555693
|
0.09345
|
NM_213607.3(CCDC103):c.-45G>A
|
rs2277616
|
0.09294
|
NM_018076.5(ODAD2):c.1237C>G (p.Arg413Gly)
|
rs57067036
|
0.09273
|
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)
|
rs1801687
|
0.09261
|
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn)
|
rs1141528
|
0.09226
|
NM_153717.3(EVC):c.618-121G>A
|
rs75063475
|
0.09118
|
NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=)
|
rs7655924
|
0.09091
|
NM_024753.4(TTC21B):c.-145G>A
|
rs111867313
|
0.09068
|
NM_001377.3(DYNC2H1):c.5558+4A>G
|
rs11225578
|
0.09042
|
NM_001206927.2(DNAH8):c.2068G>A (p.Gly690Arg)
|
rs1738254
|
0.08916
|
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr)
|
rs17301182
|
0.08896
|
NM_001034853.2(RPGR):c.2223G>A (p.Glu741=)
|
rs147619484
|
0.08849
|
NM_016616.5(NME8):c.219G>A (p.Val73=)
|
rs3213976
|
0.08754
|
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala)
|
rs17301750
|
0.08745
|
NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val)
|
rs61749058
|
0.08699
|
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro)
|
rs17145720
|
0.08574
|
NM_033028.5(BBS4):c.1451-45T>C
|
rs75847960
|
0.08550
|
NM_145038.5(DRC1):c.1897G>T (p.Val633Phe)
|
rs12623642
|
0.08537
|
NM_153717.3(EVC):c.384+41C>T
|
rs113870218
|
0.08516
|
NM_017777.4(MKS1):c.*75C>T
|
rs35184412
|
0.08455
|
NM_147127.5(EVC2):c.2235A>G (p.Glu745=)
|
rs60121553
|
0.08440
|
NM_014704.4(CEP104):c.2057C>T (p.Ala686Val)
|
rs2275831
|
0.08430
|
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile)
|
rs34762152
|
0.08326
|
NM_001077418.3(TMEM231):c.813G>A (p.Val271=)
|
rs2242406
|
0.08287
|
NM_015512.5(DNAH1):c.6139-15G>A
|
rs746239
|
0.08259
|
NM_017777.4(MKS1):c.1024+128C>T
|
rs72839966
|
0.08242
|
NM_017777.4(MKS1):c.*414C>T
|
rs2302313
|
0.08215
|
NM_001010892.3(RSPH4A):c.*436A>C
|
rs9488993
|
0.08172
|
NM_001010892.3(RSPH4A):c.446C>G (p.Thr149Ser)
|
rs13213314
|
0.08023
|
NM_001173990.3(TMEM216):c.-2G>T
|
rs7107543
|
0.08005
|
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser)
|
rs73989521
|
0.07946
|
NM_020779.4(WDR35):c.*2463C>T
|
rs3731661
|
0.07941
|
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)
|
rs2291157
|
0.07908
|
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser)
|
rs33944211
|
0.07857
|
NM_015512.5(DNAH1):c.7151A>G (p.Asn2384Ser)
|
rs56002041
|
0.07792
|
NM_001034853.2(RPGR):c.3430G>A (p.Val1144Ile)
|
rs12688514
|
0.07772
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
NM_001199397.3(NEK1):c.1068G>A (p.Arg356=)
|
rs17055010
|
0.07760
|
NM_033124.5(CCDC65):c.1026+8_1026+9del
|
rs146370108
|
0.07733
|
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp)
|
rs9972733
|
0.07717
|
NM_001199397.3(NEK1):c.-528G>A
|
rs75976017
|
0.07715
|
NM_015512.5(DNAH1):c.10881C>A (p.Val3627=)
|
rs11708581
|
0.07706
|
NM_031885.5(BBS2):c.-40T>C
|
rs115078074
|
0.07623
|
NM_031885.5(BBS2):c.-42T>G
|
rs78076550
|
0.07623
|
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg)
|
rs1060742
|
0.07465
|
NM_147127.5(EVC2):c.1711-20T>G
|
rs58869180
|
0.07408
|
NM_001199397.3(NEK1):c.607-3T>C
|
rs55679731
|
0.07330
|
NM_016343.4(CENPF):c.6032A>C (p.Glu2011Ala)
|
rs3790647
|
0.07277
|
NM_018076.5(ODAD2):c.1028T>C (p.Ile343Thr)
|
rs4405206
|
0.07261
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_001206927.2(DNAH8):c.12008-20T>C
|
rs79465174
|
0.07141
|
NM_016343.4(CENPF):c.5933A>G (p.Asp1978Gly)
|
rs3790646
|
0.07126
|
NM_016343.4(CENPF):c.5302G>A (p.Asp1768Asn)
|
rs3748692
|
0.07122
|
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=)
|
rs17144747
|
0.07116
|
NM_016343.4(CENPF):c.7386A>G (p.Glu2462=)
|
rs3748698
|
0.07116
|
NM_016343.4(CENPF):c.7067C>T (p.Ala2356Val)
|
rs3748696
|
0.07113
|
NM_016343.4(CENPF):c.7581G>A (p.Leu2527=)
|
rs3790648
|
0.07113
|
NM_147127.5(EVC2):c.-15G>A
|
rs76269601
|
0.07112
|
NM_016343.4(CENPF):c.7611T>C (p.Leu2537=)
|
rs3790649
|
0.07111
|
NM_016343.4(CENPF):c.6415G>A (p.Ala2139Thr)
|
rs3748695
|
0.07107
|
NM_016343.4(CENPF):c.6674A>G (p.Gln2225Arg)
|
rs12058704
|
0.07101
|
NM_001377.3(DYNC2H1):c.12457-6C>T
|
rs11225812
|
0.07031
|
NM_001206927.2(DNAH8):c.7982C>A (p.Thr2661Asn)
|
rs862432
|
0.07013
|
NM_001369.3(DNAH5):c.13491+37A>G
|
rs10069041
|
0.06931
|
NM_147127.5(EVC2):c.2046+5A>G
|
rs6850875
|
0.06860
|
NM_016343.4(CENPF):c.2260C>G (p.Gln754Glu)
|
rs3795523
|
0.06854
|
NM_016343.4(CENPF):c.3314C>T (p.Thr1105Ile)
|
rs12067133
|
0.06848
|
NM_016343.4(CENPF):c.3052T>G (p.Tyr1018Asp)
|
rs3795519
|
0.06847
|
NM_016343.4(CENPF):c.4461T>G (p.Leu1487=)
|
rs3795516
|
0.06845
|
NM_016343.4(CENPF):c.4235T>C (p.Leu1412Ser)
|
rs3795517
|
0.06844
|
NM_033028.5(BBS4):c.-17C>T
|
rs56368716
|
0.06844
|
NM_152618.3(BBS12):c.51A>G (p.Gln17=)
|
rs17006077
|
0.06714
|
NM_017777.4(MKS1):c.191-44G>A
|
rs73329636
|
0.06658
|
NM_153717.3(EVC):c.*2009T>C
|
rs79152885
|
0.06541
|
NM_153717.3(EVC):c.*53T>C
|
rs7676531
|
0.06533
|
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=)
|
rs17301028
|
0.06471
|
NM_153717.3(EVC):c.1115C>T (p.Thr372Met)
|
rs28483498
|
0.06438
|
NM_024685.4(BBS10):c.*498A>G
|
rs79517322
|
0.06435
|
NM_018051.5(DYNC2I1):c.490G>A (p.Val164Ile)
|
rs78313003
|
0.06387
|
NM_017777.4(MKS1):c.1671G>C (p.Leu557=)
|
rs11548967
|
0.06374
|
NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=)
|
rs111787313
|
0.06277
|
NM_017950.4(CCDC40):c.93+18C>A
|
rs8074956
|
0.06246
|
NM_001034853.2(RPGR):c.3264G>A (p.Val1088=)
|
rs78736275
|
0.06219
|
NM_001256715.2(DNAAF3):c.1164-14C>T
|
rs60176657
|
0.06188
|
NM_021147.5(CCNO):c.382-14C>G
|
rs72749883
|
0.06145
|
NM_001364171.2(ODAD1):c.1176G>A (p.Ser392=)
|
rs34540645
|
0.06119
|
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=)
|
rs112034360
|
0.06109
|
NM_015512.5(DNAH1):c.9624C>T (p.Ile3208=)
|
rs61734628
|
0.06095
|
NM_152732.5(RSPH9):c.781G>A (p.Val261Ile)
|
rs16896629
|
0.06068
|
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg)
|
rs77448980
|
0.06056
|
NM_001206927.2(DNAH8):c.9369A>G (p.Arg3123=)
|
rs4452640
|
0.06050
|
NM_001199397.3(NEK1):c.1146T>C (p.Ile382=)
|
rs56064008
|
0.06017
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06016
|
NM_001206927.2(DNAH8):c.2830G>A (p.Ala944Thr)
|
rs1678674
|
0.05992
|
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val)
|
rs62635003
|
0.05955
|
NM_153717.3(EVC):c.341C>T (p.Ala114Val)
|
rs16837598
|
0.05943
|
NM_030578.4(B9D2):c.*18G>A
|
rs1800468
|
0.05927
|
NM_025103.4(IFT74):c.165A>G (p.Ile55Met)
|
rs10812505
|
0.05909
|
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu)
|
rs36062234
|
0.05873
|
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=)
|
rs17544885
|
0.05849
|
NM_018076.5(ODAD2):c.1533+13G>C
|
rs41283706
|
0.05797
|
NM_024809.5(TCTN2):c.*412T>C
|
rs112525270
|
0.05727
|
NM_024809.5(TCTN2):c.873A>G (p.Ala291=)
|
rs73418153
|
0.05717
|
NM_024809.5(TCTN2):c.225C>T (p.Asn75=)
|
rs73416301
|
0.05714
|
NM_024809.5(TCTN2):c.83-4C>T
|
rs73416299
|
0.05712
|
NM_024809.5(TCTN2):c.*87C>T
|
rs113292231
|
0.05704
|
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_001481.3(GAS8):c.776G>A (p.Arg259Gln)
|
rs17178299
|
0.05624
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
NM_001277115.2(DNAH11):c.8155-19C>T
|
rs729657
|
0.05613
|
NM_031924.8(RSPH3):c.211C>T (p.Arg71Trp)
|
rs41267753
|
0.05602
|
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr)
|
rs2293669
|
0.05563
|
NM_025114.4(CEP290):c.6357+20A>T
|
rs7971699
|
0.05562
|
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=)
|
rs35774078
|
0.05472
|
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)
|
rs35676114
|
0.05430
|
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)
|
rs7307793
|
0.05381
|
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=)
|
rs76108116
|
0.05370
|
NM_025114.4(CEP290):c.5709+18C>A
|
rs7973969
|
0.05367
|
NM_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly)
|
rs17144835
|
0.05345
|
NM_025114.4(CEP290):c.442-19T>A
|
rs113132803
|
0.05334
|
NM_017950.4(CCDC40):c.507G>A (p.Ser169=)
|
rs2885349
|
0.05290
|
NM_001277115.2(DNAH11):c.11325G>A (p.Ala3775=)
|
rs12666072
|
0.05248
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=)
|
rs112554914
|
0.05240
|
NM_001199397.3(NEK1):c.1876G>A (p.Ala626Thr)
|
rs33933790
|
0.05183
|
NM_014714.4(IFT140):c.1862G>A (p.Arg621Gln)
|
rs11648609
|
0.05163
|
NM_020779.4(WDR35):c.*1489G>A
|
rs10182866
|
0.05128
|
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val)
|
rs2235638
|
0.05119
|
NM_025132.4(WDR19):c.-9A>G
|
rs60800612
|
0.05032
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_181426.2(CCDC39):c.*133A>T
|
rs113696248
|
0.04944
|
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val)
|
rs6884652
|
0.04935
|
NM_015272.5(RPGRIP1L):c.530-29G>A
|
rs74393433
|
0.04932
|
NM_023036.6(DNAI2):c.1053G>A (p.Thr351=)
|
rs34392071
|
0.04853
|
NM_033028.4(BBS4):c.-38C>A
|
rs11637927
|
0.04836
|
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=)
|
rs12116997
|
0.04804
|
NM_017950.4(CCDC40):c.553-17G>C
|
rs7223400
|
0.04712
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=)
|
rs61734950
|
0.04617
|
NM_031427.4(DNAL1):c.532+11C>T
|
rs72721725
|
0.04594
|
NM_001375405.1(CEP120):c.2481+3100G>A
|
rs1428387
|
0.04593
|
NM_001364171.2(ODAD1):c.2024C>T (p.Ser675Leu)
|
rs74925056
|
0.04566
|
NM_152732.5(RSPH9):c.-18A>G
|
rs59110261
|
0.04516
|
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser)
|
rs17617459
|
0.04486
|
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu)
|
rs12146610
|
0.04434
|
NM_033124.5(CCDC65):c.880C>T (p.Arg294Cys)
|
rs78877829
|
0.04426
|
NM_001206927.2(DNAH8):c.863A>G (p.Asn288Ser)
|
rs6935293
|
0.04415
|
NM_033124.5(CCDC65):c.505C>A (p.His169Asn)
|
rs79716342
|
0.04408
|
NM_031924.8(RSPH3):c.38C>G (p.Pro13Arg)
|
rs61750776
|
0.04396
|
NM_031924.8(RSPH3):c.243G>A (p.Arg81=)
|
rs34725942
|
0.04393
|
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met)
|
rs12142270
|
0.04382
|
NM_152384.3(BBS5):c.39C>G (p.Val13=)
|
rs10188609
|
0.04379
|
NM_017777.4(MKS1):c.*472C>G
|
rs17174788
|
0.04345
|
NM_181426.2(CCDC39):c.*499A>C
|
rs59016311
|
0.04325
|
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=)
|
rs16839515
|
0.04323
|
NM_001378615.1(CC2D2A):c.777C>T (p.His259=)
|
rs2286976
|
0.04284
|
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)
|
rs7970228
|
0.04262
|
NM_024685.4(BBS10):c.*805T>C
|
rs73390067
|
0.04252
|
NM_001277115.2(DNAH11):c.11691-20_11691-19insC
|
rs55692559
|
0.04247
|
NM_145038.5(DRC1):c.2200G>A (p.Val734Met)
|
rs35313480
|
0.04241
|
NM_024685.4(BBS10):c.-52C>T
|
rs79580268
|
0.04214
|
NM_001481.3(GAS8):c.1050C>T (p.Thr350=)
|
rs61734731
|
0.04165
|
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr)
|
rs72655988
|
0.04164
|
NM_020779.4(WDR35):c.*1127A>G
|
rs75503594
|
0.04161
|
NM_033028.5(BBS4):c.906= (p.Phe302=)
|
rs12914333
|
0.04151
|
NM_181426.2(CCDC39):c.472C>G (p.Leu158Val)
|
rs57838737
|
0.04150
|
NM_017802.4(DNAAF5):c.72G>A (p.Ala24=)
|
rs9719797
|
0.04128
|
NM_001277115.2(DNAH11):c.1199C>T (p.Thr400Ile)
|
rs72655982
|
0.04096
|
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=)
|
rs16916221
|
0.04084
|
NM_024753.5(TTC21B):c.2211+13A>G
|
rs73969727
|
0.04080
|
NM_001278293.3(ARL6):c.186-18T>C
|
rs77906443
|
0.04049
|
NM_025132.4(WDR19):c.910G>A (p.Val304Ile)
|
rs75964850
|
0.03961
|
NM_001481.3(GAS8):c.-7T>G
|
rs80287915
|
0.03946
|
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)
|
rs16892095
|
0.03933
|
NM_015512.5(DNAH1):c.11959-15C>T
|
rs123603
|
0.03923
|
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr)
|
rs113425437
|
0.03898
|
NM_153717.3(EVC):c.*908G>A
|
rs13119698
|
0.03897
|
NM_018051.5(DYNC2I1):c.2385G>A (p.Leu795=)
|
rs61747095
|
0.03840
|
NM_015512.5(DNAH1):c.11230C>T (p.Arg3744Cys)
|
rs419752
|
0.03813
|
NM_014956.5(CEP164):c.2205C>T (p.Ser735=)
|
rs494553
|
0.03797
|
NM_016343.4(CENPF):c.6131C>T (p.Ser2044Leu)
|
rs7533166
|
0.03766
|
NM_024809.5(TCTN2):c.-55C>A
|
rs78846567
|
0.03708
|
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)
|
rs34540355
|
0.03694
|
NM_178452.6(DNAAF1):c.988C>A (p.Arg330=)
|
rs112191420
|
0.03681
|
NM_152618.3(BBS12):c.*613T>C
|
rs74451613
|
0.03678
|
NM_003114.5(SPAG1):c.669A>G (p.Gly223=)
|
rs35592493
|
0.03677
|
NM_001378454.1(ALMS1):c.9782-9C>T
|
rs10199680
|
0.03656
|
NM_144596.4(TTC8):c.1432-12T>C
|
rs79747892
|
0.03653
|
NM_020779.4(WDR35):c.*2957G>A
|
rs76072774
|
0.03646
|
NM_020779.4(WDR35):c.549C>T (p.Tyr183=)
|
rs34169020
|
0.03645
|
NM_144596.4(TTC8):c.*472A>C
|
rs59300815
|
0.03638
|
NM_015512.5(DNAH1):c.1321G>C (p.Val441Leu)
|
rs13060192
|
0.03637
|
NM_016616.5(NME8):c.1013T>C (p.Ile338Thr)
|
rs62001870
|
0.03629
|
NM_003114.5(SPAG1):c.427-16G>T
|
rs28673878
|
0.03617
|
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser)
|
rs16995209
|
0.03548
|
NM_001134831.2(AHI1):c.-299G>A
|
rs113052089
|
0.03529
|
NM_198428.3(BBS9):c.1017-6T>C
|
rs61756571
|
0.03520
|
NM_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His)
|
rs2003417
|
0.03504
|
NM_015512.5(DNAH1):c.3853C>T (p.Arg1285Trp)
|
rs61734640
|
0.03447
|
NM_015512.5(DNAH1):c.2430C>T (p.Thr810=)
|
rs35982798
|
0.03445
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
NM_015512.5(DNAH1):c.10317C>T (p.Ile3439=)
|
rs419050
|
0.03434
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=)
|
rs35504640
|
0.03388
|
NM_001372.4(DNAH9):c.8808C>T (p.Asn2936=)
|
rs117790039
|
0.03365
|
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)
|
rs111631988
|
0.03363
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03266
|
NM_153717.3(EVC):c.1096C>T (p.Leu366=)
|
rs6854138
|
0.03243
|
NM_152618.3(BBS12):c.1209G>A (p.Val403=)
|
rs17006092
|
0.03229
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu)
|
rs111472069
|
0.03191
|
NM_001364171.2(ODAD1):c.247C>T (p.Arg83Trp)
|
rs16981988
|
0.03160
|
NM_152618.3(BBS12):c.1062G>C (p.Val354=)
|
rs34296401
|
0.03153
|
NM_001277115.2(DNAH11):c.12508-12T>C
|
rs72658822
|
0.03145
|
NM_153240.5(NPHP3):c.*657C>T
|
rs79224795
|
0.03141
|
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=)
|
rs77738279
|
0.03138
|
NM_001243156.2(TAF1C):c.*1082A>G
|
rs2288024
|
0.03108
|
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=)
|
rs73750958
|
0.03087
|
NM_052844.4(DYNC2I2):c.703+20C>T
|
rs78387565
|
0.03075
|
NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=)
|
rs72658820
|
0.03062
|
NM_181426.2(CCDC39):c.*575T>C
|
rs79349285
|
0.03058
|
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu)
|
rs60809236
|
0.03040
|
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=)
|
rs114545322
|
0.03032
|
NM_018051.5(DYNC2I1):c.2371+4C>T
|
rs2286113
|
0.02993
|
NM_080860.4(RSPH1):c.579A>G (p.Arg193=)
|
rs149478284
|
0.02988
|
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=)
|
rs1982243
|
0.02985
|
NM_001010892.3(RSPH4A):c.2099C>T (p.Ala700Val)
|
rs9488992
|
0.02977
|
NM_152384.3(BBS5):c.108C>T (p.Ser36=)
|
rs16823066
|
0.02951
|
NM_001382391.1(CSPP1):c.-34C>G
|
rs117210747
|
0.02944
|
NM_001384732.1(CPLANE1):c.5343A>T (p.Thr1781=)
|
rs73750949
|
0.02942
|
NM_001369.3(DNAH5):c.6444+8A>G
|
rs1348690
|
0.02931
|
NM_015910.7(WDPCP):c.*195G>A
|
rs55807617
|
0.02897
|
NM_198428.3(BBS9):c.1029A>G (p.Gly343=)
|
rs35195153
|
0.02890
|
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg)
|
rs35090077
|
0.02877
|
NM_001384732.1(CPLANE1):c.94G>A (p.Val32Ile)
|
rs73750959
|
0.02866
|
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_001023570.4(IQCB1):c.-193T>C
|
rs114555283
|
0.02852
|
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=)
|
rs34580014
|
0.02846
|
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val)
|
rs72658840
|
0.02832
|
NM_018076.5(ODAD2):c.2359C>T (p.Arg787Cys)
|
rs35242712
|
0.02826
|
NM_001377.3(DYNC2H1):c.9353+7G>A
|
rs78309870
|
0.02821
|
NM_024753.5(TTC21B):c.*105G>A
|
rs74548052
|
0.02812
|
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn)
|
rs28507107
|
0.02805
|
NM_153717.3(EVC):c.939+11G>T
|
rs55955937
|
0.02788
|
NM_017950.4(CCDC40):c.504G>A (p.Pro168=)
|
rs74000351
|
0.02786
|
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)
|
rs11999454
|
0.02757
|
NM_145045.5(ODAD3):c.145A>C (p.Thr49Pro)
|
rs61742088
|
0.02746
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)
|
rs33958626
|
0.02731
|
NM_024809.5(TCTN2):c.-95G>A
|
rs7980060
|
0.02722
|
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn)
|
rs149158199
|
0.02715
|
NM_024649.5(BBS1):c.*428G>C
|
rs41302425
|
0.02701
|
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val)
|
rs8060532
|
0.02699
|
NM_033124.5(CCDC65):c.1179+15A>T
|
rs73107887
|
0.02696
|
NM_033124.5(CCDC65):c.1415G>A (p.Arg472His)
|
rs80052257
|
0.02693
|
NM_000328.3(RPGR):c.2302C>A (p.Pro768Thr)
|
rs34117835
|
0.02675
|
NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn)
|
rs8050974
|
0.02675
|
NM_001277115.2(DNAH11):c.4377+20G>A
|
rs113270736
|
0.02672
|
NM_147127.5(EVC2):c.1059C>T (p.Gly353=)
|
rs77793386
|
0.02666
|
NM_018051.5(DYNC2I1):c.2395A>G (p.Ile799Val)
|
rs61733022
|
0.02653
|
NM_001277115.2(DNAH11):c.7552G>A (p.Val2518Ile)
|
rs68023059
|
0.02641
|
NM_001082538.3(TCTN1):c.473-10T>A
|
rs12307716
|
0.02637
|
NM_001206927.2(DNAH8):c.2620G>A (p.Val874Met)
|
rs45529837
|
0.02635
|
NM_145045.5(ODAD3):c.921C>T (p.Arg307=)
|
rs61739937
|
0.02630
|
NM_153717.3(EVC):c.*1060A>C
|
rs71599848
|
0.02627
|
NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser)
|
rs112738198
|
0.02615
|
NM_014956.5(CEP164):c.4119C>T (p.Asn1373=)
|
rs73016324
|
0.02599
|
NM_015512.5(DNAH1):c.5787G>A (p.Ser1929=)
|
rs61738524
|
0.02555
|
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=)
|
rs61744054
|
0.02551
|
NM_014956.5(CEP164):c.1430A>G (p.His477Arg)
|
rs117083334
|
0.02549
|
NM_015512.5(DNAH1):c.4504G>A (p.Val1502Met)
|
rs17052095
|
0.02539
|
NM_033028.5(BBS4):c.405+17C>T
|
rs80334351
|
0.02539
|
NM_001369.3(DNAH5):c.8449-12T>C
|
rs111313933
|
0.02531
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=)
|
rs35233147
|
0.02485
|
NM_019892.6(INPP5E):c.33C>G (p.Ser11=)
|
rs79161998
|
0.02475
|
NM_001364171.2(ODAD1):c.1097G>A (p.Arg366His)
|
rs35361179
|
0.02467
|
NM_145038.5(DRC1):c.172T>C (p.Tyr58His)
|
rs74936036
|
0.02464
|
NM_170784.3(MKKS):c.*38A>G
|
rs79940214
|
0.02456
|
NM_170784.3(MKKS):c.*46G>T
|
rs74703166
|
0.02454
|
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=)
|
rs74599901
|
0.02427
|
NM_014714.4(IFT140):c.492-14G>A
|
rs75359189
|
0.02409
|
NM_001369.3(DNAH5):c.58-13T>C
|
rs115758625
|
0.02407
|
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=)
|
rs2273761
|
0.02399
|
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)
|
rs117122459
|
0.02390
|
NM_020800.3(IFT80):c.462G>A (p.Ala154=)
|
rs34182424
|
0.02371
|
NM_017950.4(CCDC40):c.*654A>C
|
rs2289538
|
0.02366
|
NM_015662.3(IFT172):c.337-12C>T
|
rs79529534
|
0.02365
|
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys)
|
rs72989738
|
0.02353
|
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=)
|
rs6736435
|
0.02349
|
NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn)
|
rs61742753
|
0.02347
|
NM_001364171.2(ODAD1):c.598-5C>A
|
rs10416590
|
0.02325
|
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=)
|
rs111995400
|
0.02321
|
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=)
|
rs61746147
|
0.02316
|
NM_001206927.2(DNAH8):c.1920C>T (p.Asp640=)
|
rs78139815
|
0.02314
|
NM_001277115.2(DNAH11):c.12943G>A (p.Ala4315Thr)
|
rs72658825
|
0.02314
|
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg)
|
rs7702892
|
0.02310
|
NM_153717.3(EVC):c.*1375A>G
|
rs114994758
|
0.02309
|
NM_001384732.1(CPLANE1):c.7775C>T (p.Pro2592Leu)
|
rs16903518
|
0.02308
|
NM_001206927.2(DNAH8):c.1764+2T>C
|
rs77769111
|
0.02307
|
NM_001369.3(DNAH5):c.7274G>A (p.Arg2425His)
|
rs35900306
|
0.02307
|
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)
|
rs11896293
|
0.02293
|
NM_031924.8(RSPH3):c.35C>T (p.Ala12Val)
|
rs61750777
|
0.02290
|
NM_001369.3(DNAH5):c.*649G>C
|
rs77289648
|
0.02281
|
NM_003611.3(OFD1):c.2387+11C>T
|
rs140369491
|
0.02280
|
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln)
|
rs17009061
|
0.02260
|
NM_001077418.3(TMEM231):c.582+8C>G
|
rs144252983
|
0.02257
|
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)
|
rs34248917
|
0.02256
|
NM_001173990.3(TMEM216):c.*444T>C
|
rs116047887
|
0.02253
|
NM_001206927.2(DNAH8):c.11511G>A (p.Arg3837=)
|
rs61748646
|
0.02251
|
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn)
|
rs28730853
|
0.02251
|
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=)
|
rs34617744
|
0.02246
|
NM_014714.4(IFT140):c.4380C>T (p.Asp1460=)
|
rs61749517
|
0.02245
|
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln)
|
rs17099969
|
0.02244
|
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp)
|
rs72736758
|
0.02238
|
NM_003114.5(SPAG1):c.1536-9C>G
|
rs112884253
|
0.02211
|
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln)
|
rs35404373
|
0.02210
|
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg)
|
rs1808140
|
0.02204
|
NM_198525.3(KIF7):c.1444-4A>G
|
rs112333674
|
0.02204
|
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser)
|
rs34900355
|
0.02198
|
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_015681.6(B9D1):c.-70G>A
|
rs2296978
|
0.02165
|
NM_001369.3(DNAH5):c.4431C>T (p.Ser1477=)
|
rs74451896
|
0.02161
|
NM_001378454.1(ALMS1):c.9907+20C>T
|
rs74730457
|
0.02147
|
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln)
|
rs77298332
|
0.02147
|
NM_001206927.2(DNAH8):c.1617+3T>G
|
rs58784538
|
0.02146
|
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=)
|
rs11611
|
0.02142
|
NM_147127.5(EVC2):c.3557+10G>A
|
rs116218656
|
0.02138
|
NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=)
|
rs10077457
|
0.02135
|
NM_001034853.2(RPGR):c.552G>T (p.Gln184His)
|
rs5963403
|
0.02128
|
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)
|
rs34927702
|
0.02105
|
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=)
|
rs976529
|
0.02103
|
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=)
|
rs35760114
|
0.02099
|
NM_020779.4(WDR35):c.*2836C>T
|
rs74469198
|
0.02096
|
NM_198525.3(KIF7):c.216G>A (p.Gln72=)
|
rs113881220
|
0.02077
|
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)
|
rs16957538
|
0.02076
|
NM_018076.5(ODAD2):c.1272C>T (p.Ser424=)
|
rs111982349
|
0.02074
|
NM_018718.3(CEP41):c.*927T>C
|
rs73152870
|
0.02074
|
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)
|
rs3818577
|
0.02063
|
NM_025114.4(CEP290):c.251-10A>T
|
rs190383141
|
0.02052
|
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys)
|
rs62636730
|
0.02044
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
NM_015102.5(NPHP4):c.*314T>G
|
rs111874674
|
0.02020
|
NM_145045.5(ODAD3):c.614C>T (p.Thr205Ile)
|
rs35061520
|
0.02018
|
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)
|
rs41312104
|
0.02014
|
NM_014704.4(CEP104):c.735+17A>G
|
rs2298224
|
0.02006
|
NM_018139.3(DNAAF2):c.-79C>T
|
rs78309551
|
0.02003
|
NM_020800.3(IFT80):c.-40C>T
|
rs79756374
|
0.01997
|
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp)
|
rs8058674
|
0.01985
|
NM_015512.5(DNAH1):c.5288C>T (p.Ser1763Leu)
|
rs61739896
|
0.01985
|
NM_018076.5(ODAD2):c.1143-10T>G
|
rs201844076
|
0.01978
|
NM_153704.6(TMEM67):c.1518+18T>C
|
rs73694953
|
0.01972
|
NM_001142301.1(TMEM67):c.-200G>C
|
rs79833026
|
0.01971
|
NM_015512.5(DNAH1):c.8514+13G>A
|
rs111312769
|
0.01970
|
NM_015512.5(DNAH1):c.9783C>T (p.Arg3261=)
|
rs61733865
|
0.01969
|
NM_015512.5(DNAH1):c.7848C>T (p.Tyr2616=)
|
rs113529103
|
0.01967
|
NM_015512.5(DNAH1):c.9121C>T (p.Arg3041Cys)
|
rs61731638
|
0.01963
|
NM_001044385.3(TMEM237):c.395+7A>G
|
rs78297522
|
0.01932
|
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)
|
rs309369
|
0.01932
|
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=)
|
rs16940927
|
0.01924
|
NM_014956.5(CEP164):c.3927C>T (p.Thr1309=)
|
rs115051850
|
0.01922
|
NM_198525.3(KIF7):c.*139C>T
|
rs8037511
|
0.01904
|
NM_020779.4(WDR35):c.*2408G>C
|
rs112569580
|
0.01898
|
NM_145038.5(DRC1):c.1710G>A (p.Ala570=)
|
rs76446726
|
0.01898
|
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met)
|
rs36064831
|
0.01896
|
NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu)
|
rs61733579
|
0.01895
|
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=)
|
rs115435816
|
0.01890
|
NM_014714.4(IFT140):c.2454C>T (p.Asp818=)
|
rs34668993
|
0.01885
|
NM_052844.4(DYNC2I2):c.187-3C>A
|
rs12380424
|
0.01873
|
NM_001289104.2(PRKCSH):c.-78+38T>C
|
rs160913
|
0.01869
|
NM_016464.5(TMEM138):c.261G>A (p.Val87=)
|
rs35245221
|
0.01861
|
NM_147127.5(EVC2):c.3660-18C>A
|
rs6853237
|
0.01859
|
NM_145038.5(DRC1):c.540+12G>A
|
rs79594098
|
0.01853
|
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro)
|
rs117203086
|
0.01848
|
NM_001206927.2(DNAH8):c.5572-19C>T
|
rs112343474
|
0.01846
|
NM_178452.6(DNAAF1):c.228C>T (p.His76=)
|
rs61743547
|
0.01842
|
NM_198525.3(KIF7):c.3665-18C>T
|
rs78862745
|
0.01841
|
NM_001384732.1(CPLANE1):c.*889A>G
|
rs75549748
|
0.01830
|
NM_025132.4(WDR19):c.1357-10T>C
|
rs16995189
|
0.01827
|
NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met)
|
rs61734638
|
0.01825
|
NM_031924.8(RSPH3):c.1024G>A (p.Glu342Lys)
|
rs12204826
|
0.01824
|
NM_001077418.3(TMEM231):c.582+3A>G
|
rs114290622
|
0.01823
|
NM_031924.8(RSPH3):c.767G>A (p.Arg256Gln)
|
rs10455840
|
0.01819
|
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=)
|
rs61749027
|
0.01818
|
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=)
|
rs74713170
|
0.01817
|
NM_001384732.1(CPLANE1):c.5900+7G>T
|
rs78315844
|
0.01816
|
NM_001384732.1(CPLANE1):c.*641C>T
|
rs116744214
|
0.01809
|
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala)
|
rs76245173
|
0.01809
|
NM_020779.4(WDR35):c.*3268C>T
|
rs113280329
|
0.01807
|
NM_020779.4(WDR35):c.*1479C>T
|
rs77400381
|
0.01800
|
NM_001377.3(DYNC2H1):c.2818+13T>C
|
rs150786504
|
0.01790
|
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)
|
rs115517108
|
0.01785
|
NM_012144.4(DNAI1):c.297A>G (p.Gln99=)
|
rs77344166
|
0.01778
|
NM_153717.3(EVC):c.*2277G>C
|
rs28452978
|
0.01778
|
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe)
|
rs2163649
|
0.01776
|
NM_017950.4(CCDC40):c.*265C>T
|
rs74000393
|
0.01774
|
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)
|
rs34071195
|
0.01772
|
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=)
|
rs75434052
|
0.01769
|
NM_152732.5(RSPH9):c.671-4259C>T
|
rs41281830
|
0.01763
|
NM_052844.4(DYNC2I2):c.630G>A (p.Pro210=)
|
rs61744155
|
0.01761
|
NM_052844.4(DYNC2I2):c.545+12C>T
|
rs76817280
|
0.01758
|
NM_018719.5(CDCA7L):c.*1052G>A
|
rs72658841
|
0.01754
|
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=)
|
rs78108069
|
0.01749
|
NM_153704.6(TMEM67):c.*19T>C
|
rs55850117
|
0.01744
|
NM_001277115.2(DNAH11):c.9098T>C (p.Ile3033Thr)
|
rs28751578
|
0.01743
|
NM_016616.4(NME8):c.271-27C>T
|
rs117149381
|
0.01739
|
NM_001375405.1(CEP120):c.1105C>T (p.Pro369Ser)
|
rs61747983
|
0.01738
|
NM_001277115.2(DNAH11):c.9102+21_9102+22dup
|
rs200306386
|
0.01735
|
NM_145038.5(DRC1):c.2147A>C (p.Gln716Pro)
|
rs115095929
|
0.01728
|
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)
|
rs11889925
|
0.01714
|
NM_031885.5(BBS2):c.612+12C>A
|
rs77019529
|
0.01713
|
NM_198428.3(BBS9):c.*549A>G
|
rs73690947
|
0.01710
|
NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr)
|
rs79494390
|
0.01709
|
NM_001364171.2(ODAD1):c.1071G>A (p.Glu357=)
|
rs79967289
|
0.01703
|
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro)
|
rs6940875
|
0.01691
|
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr)
|
rs61998241
|
0.01690
|
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=)
|
rs116666272
|
0.01688
|
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)
|
rs41287054
|
0.01682
|
NM_015512.5(DNAH1):c.10305G>A (p.Thr3435=)
|
rs75513160
|
0.01677
|
NM_001364171.2(ODAD1):c.1632C>T (p.Ala544=)
|
rs73585332
|
0.01673
|
NM_015512.5(DNAH1):c.5697C>T (p.Tyr1899=)
|
rs115818632
|
0.01673
|
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=)
|
rs28730851
|
0.01669
|
NM_012210.4(TRIM32):c.*589G>A
|
rs16933835
|
0.01666
|
NM_012210.4(TRIM32):c.*845C>T
|
rs111309723
|
0.01665
|
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys)
|
rs76229167
|
0.01663
|
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=)
|
rs41280800
|
0.01658
|
NM_001364171.2(ODAD1):c.1737C>T (p.Pro579=)
|
rs13346323
|
0.01656
|
NM_015512.5(DNAH1):c.2308C>G (p.Gln770Glu)
|
rs74363541
|
0.01655
|
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)
|
rs73688160
|
0.01649
|
NM_153717.3(EVC):c.*1849C>G
|
rs75438311
|
0.01645
|
NM_015512.5(DNAH1):c.7569C>T (p.Ser2523=)
|
rs73072968
|
0.01641
|
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)
|
rs41291187
|
0.01638
|
NM_015102.5(NPHP4):c.1611+9C>T
|
rs114900019
|
0.01637
|
NM_001134831.2(AHI1):c.2624-6A>G
|
rs41288015
|
0.01635
|
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=)
|
rs76567936
|
0.01632
|
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly)
|
rs79377186
|
0.01627
|
NM_001384732.1(CPLANE1):c.3795T>A (p.Val1265=)
|
rs74478954
|
0.01626
|
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=)
|
rs74692882
|
0.01622
|
NM_001277115.2(DNAH11):c.6835-19A>G
|
rs77931784
|
0.01620
|
NM_018076.5(ODAD2):c.3121G>T (p.Ala1041Ser)
|
rs3737184
|
0.01615
|
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile)
|
rs61739354
|
0.01613
|
NM_018139.3(DNAAF2):c.1863+16A>G
|
rs60822508
|
0.01613
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=)
|
rs79656636
|
0.01606
|
NM_024649.5(BBS1):c.*1215T>C
|
rs115354748
|
0.01605
|
NM_153717.3(EVC):c.*615C>T
|
rs73079505
|
0.01604
|
NM_153717.3(EVC):c.*1083T>G
|
rs71599850
|
0.01599
|
NM_031924.8(RSPH3):c.303A>G (p.Thr101=)
|
rs34756688
|
0.01596
|
NM_001199397.3(NEK1):c.2764+12T>A
|
rs77658514
|
0.01594
|
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His)
|
rs41289942
|
0.01592
|
NM_015512.5(DNAH1):c.1789C>T (p.Arg597Cys)
|
rs61734654
|
0.01589
|
NM_145038.5(DRC1):c.2001A>G (p.Thr667=)
|
rs116119084
|
0.01587
|
NM_031924.8(RSPH3):c.-220C>A
|
rs41267757
|
0.01586
|
NM_198428.3(BBS9):c.*138A>C
|
rs59454255
|
0.01586
|
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)
|
rs118191062
|
0.01583
|
NM_001369.3(DNAH5):c.6989-13T>C
|
rs112344370
|
0.01579
|
NM_012472.6(DNAAF11):c.609C>T (p.Asn203=)
|
rs35956157
|
0.01575
|
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=)
|
rs75143468
|
0.01568
|
NM_153717.3(EVC):c.*820C>T
|
rs137860758
|
0.01565
|
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp)
|
rs45608038
|
0.01548
|
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=)
|
rs116574613
|
0.01532
|
NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu)
|
rs61995733
|
0.01531
|
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala)
|
rs28730849
|
0.01527
|
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=)
|
rs116824266
|
0.01523
|
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys)
|
rs118096349
|
0.01517
|
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met)
|
rs61747516
|
0.01505
|
NM_015512.5(DNAH1):c.931G>A (p.Asp311Asn)
|
rs55931436
|
0.01502
|
NM_019892.6(INPP5E):c.1388-13C>T
|
rs78828148
|
0.01500
|
NM_001384732.1(CPLANE1):c.3240C>T (p.Ala1080=)
|
rs28514632
|
0.01487
|
NM_015681.6(B9D1):c.580T>C (p.Leu194=)
|
rs7212549
|
0.01478
|
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)
|
rs75829835
|
0.01478
|
NM_183065.4(TMEM107):c.87+22A>C
|
rs78413898
|
0.01477
|
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_001277115.2(DNAH11):c.8969G>A (p.Arg2990His)
|
rs72657371
|
0.01466
|
NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=)
|
rs72657372
|
0.01452
|
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=)
|
rs61745362
|
0.01450
|
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu)
|
rs74050429
|
0.01450
|
NM_001377.3(DYNC2H1):c.-94G>T
|
rs114993913
|
0.01448
|
NM_018051.5(DYNC2I1):c.1800C>T (p.Ala600=)
|
rs41271220
|
0.01447
|
NM_178452.6(DNAAF1):c.352+17G>C
|
rs142704524
|
0.01446
|
NM_001384732.1(CPLANE1):c.1737G>A (p.Ala579=)
|
rs13356183
|
0.01427
|
NM_015512.5(DNAH1):c.7197G>C (p.Val2399=)
|
rs61738522
|
0.01427
|
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser)
|
rs55859130
|
0.01420
|
NM_001277115.2(DNAH11):c.12387+20T>A
|
rs116529653
|
0.01419
|
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)
|
rs2279252
|
0.01416
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_024809.5(TCTN2):c.1612+12C>T
|
rs117614122
|
0.01410
|
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser)
|
rs16851307
|
0.01408
|
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=)
|
rs116888435
|
0.01403
|
NM_018076.5(ODAD2):c.2979C>T (p.Asp993=)
|
rs74555138
|
0.01400
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_001384732.1(CPLANE1):c.8664-3A>T
|
rs58401892
|
0.01389
|
NM_015896.4(ZMYND10):c.319-6T>C
|
rs114377074
|
0.01386
|
NM_020779.4(WDR35):c.*1129C>T
|
rs76845713
|
0.01385
|
NM_017802.4(DNAAF5):c.921C>A (p.Ser307Arg)
|
rs113374052
|
0.01381
|
NM_001277115.2(DNAH11):c.6547-5C>G
|
rs115200161
|
0.01380
|
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=)
|
rs80225158
|
0.01377
|
NM_001206927.2(DNAH8):c.11457+18G>A
|
rs75452505
|
0.01374
|
NM_001206927.2(DNAH8):c.11361A>G (p.Pro3787=)
|
rs111791517
|
0.01368
|
NM_015272.5(RPGRIP1L):c.2959-15T>C
|
rs11863101
|
0.01368
|
NM_001278293.3(ARL6):c.480-8C>T
|
rs77010939
|
0.01364
|
NM_030578.4(B9D2):c.215-16C>G
|
rs3087453
|
0.01363
|
NM_001206927.2(DNAH8):c.11204A>G (p.His3735Arg)
|
rs77540135
|
0.01359
|
NM_001278293.3(ARL6):c.*255C>T
|
rs79196822
|
0.01359
|
NM_001199397.3(NEK1):c.*154G>A
|
rs139328912
|
0.01356
|
NM_018718.3(CEP41):c.*3507C>T
|
rs149385617
|
0.01355
|
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala)
|
rs4498440
|
0.01355
|
NM_015512.5(DNAH1):c.5988A>C (p.Ser1996=)
|
rs61753436
|
0.01351
|
NM_019892.6(INPP5E):c.981C>T (p.Ala327=)
|
rs35498378
|
0.01340
|
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=)
|
rs151056947
|
0.01339
|
NM_001277115.2(DNAH11):c.6683+13C>G
|
rs17145077
|
0.01337
|
NM_001277115.2(DNAH11):c.9337-9T>C
|
rs72657378
|
0.01332
|
NM_001134831.2(AHI1):c.1152-11T>G
|
rs113317693
|
0.01324
|
NM_020779.4(WDR35):c.*553G>T
|
rs79153401
|
0.01323
|
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)
|
rs6880264
|
0.01314
|
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=)
|
rs78196225
|
0.01307
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
NM_017777.4(MKS1):c.1273+11G>A
|
rs16942826
|
0.01295
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=)
|
rs116033693
|
0.01292
|
NM_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr)
|
rs6859950
|
0.01291
|
NM_001277115.2(DNAH11):c.8317-16C>G
|
rs76300792
|
0.01285
|
NM_018718.3(CEP41):c.*3765G>T
|
rs138768326
|
0.01276
|
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg)
|
rs34535263
|
0.01269
|
NM_015662.3(IFT172):c.2723G>A (p.Arg908Gln)
|
rs61747073
|
0.01256
|
NM_018051.5(DYNC2I1):c.1791+5A>G
|
rs41271217
|
0.01256
|
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu)
|
rs34209904
|
0.01256
|
NM_001277115.2(DNAH11):c.9102+8G>A
|
rs72657374
|
0.01255
|
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=)
|
rs45568037
|
0.01255
|
NM_018139.3(DNAAF2):c.78C>T (p.Ala26=)
|
rs7156297
|
0.01255
|
NM_019892.6(INPP5E):c.636C>A (p.Val212=)
|
rs34071122
|
0.01252
|
NM_024685.4(BBS10):c.*1248A>G
|
rs115516881
|
0.01249
|
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)
|
rs117195541
|
0.01237
|
NM_023036.6(DNAI2):c.1131G>A (p.Pro377=)
|
rs59499600
|
0.01236
|
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=)
|
rs17028857
|
0.01235
|
NM_017777.4(MKS1):c.-18C>G
|
rs116514023
|
0.01231
|
NM_001044385.3(TMEM237):c.-12G>A
|
rs113186360
|
0.01229
|
NM_001277115.2(DNAH11):c.11059A>G (p.Lys3687Glu)
|
rs72657402
|
0.01226
|
NM_015512.5(DNAH1):c.8134A>G (p.Met2712Val)
|
rs28434358
|
0.01222
|
NM_024809.5(TCTN2):c.*67C>T
|
rs112214860
|
0.01216
|
NM_145038.5(DRC1):c.1359C>T (p.Ser453=)
|
rs77226260
|
0.01216
|
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala)
|
rs73063795
|
0.01215
|
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu)
|
rs148429731
|
0.01214
|
NM_001329943.3(KIAA0586):c.2060-3T>C
|
rs17094553
|
0.01209
|
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln)
|
rs113345685
|
0.01206
|
NM_001377.3(DYNC2H1):c.195+7T>C
|
rs112718117
|
0.01205
|
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr)
|
rs61734546
|
0.01201
|
NM_145045.5(ODAD3):c.424C>G (p.Leu142Val)
|
rs61739927
|
0.01197
|
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His)
|
rs112051327
|
0.01197
|
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys)
|
rs61898615
|
0.01194
|
NM_001277115.2(DNAH11):c.3946A>G (p.Met1316Val)
|
rs17144788
|
0.01186
|
NM_198525.3(KIF7):c.2481C>T (p.Asn827=)
|
rs35837280
|
0.01186
|
NM_153717.3(EVC):c.*1700C>T
|
rs74690944
|
0.01179
|
NM_001364171.2(ODAD1):c.825C>T (p.Pro275=)
|
rs34628933
|
0.01174
|
NM_015102.5(NPHP4):c.*128A>C
|
rs116747881
|
0.01171
|
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu)
|
rs115857753
|
0.01168
|
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys)
|
rs11920543
|
0.01165
|
NM_033028.5(BBS4):c.*1G>C
|
rs113678046
|
0.01165
|
NM_153717.3(EVC):c.1464+8A>G
|
rs116236414
|
0.01163
|
NM_153717.3(EVC):c.2373G>A (p.Gln791=)
|
rs73795089
|
0.01161
|
NM_153717.3(EVC):c.2363G>A (p.Arg788His)
|
rs73795088
|
0.01159
|
NM_001481.3(GAS8):c.38A>G (p.Lys13Arg)
|
rs61734732
|
0.01157
|
NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln)
|
rs35865357
|
0.01156
|
NM_145045.5(ODAD3):c.729C>T (p.Asn243=)
|
rs11879596
|
0.01155
|
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile)
|
rs117169123
|
0.01149
|
NM_014956.5(CEP164):c.194+13G>T
|
rs116804346
|
0.01147
|
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)
|
rs113445782
|
0.01143
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)
|
rs113450177
|
0.01140
|
NM_001206927.2(DNAH8):c.1407+20A>G
|
rs9470927
|
0.01139
|
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=)
|
rs61745103
|
0.01137
|
NM_001206927.2(DNAH8):c.1050C>T (p.Ala350=)
|
rs9470924
|
0.01136
|
NM_019892.6(INPP5E):c.531C>A (p.Ala177=)
|
rs58206296
|
0.01135
|
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys)
|
rs56395266
|
0.01130
|
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser)
|
rs190271845
|
0.01118
|
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr)
|
rs61732031
|
0.01115
|
NM_014704.4(CEP104):c.681G>A (p.Lys227=)
|
rs61746709
|
0.01114
|
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg)
|
rs144717489
|
0.01113
|
NM_016343.4(CENPF):c.5635C>T (p.Arg1879Cys)
|
rs61732022
|
0.01110
|
NM_000328.3(RPGR):c.2242-8T>C
|
rs112368541
|
0.01109
|
NM_001256715.2(DNAAF3):c.323-17T>G
|
rs10407660
|
0.01106
|
NM_001377.3(DYNC2H1):c.6478-6C>T
|
rs114254215
|
0.01103
|
NM_153704.6(TMEM67):c.*852C>T
|
rs114214029
|
0.01103
|
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=)
|
rs34373111
|
0.01102
|
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr)
|
rs61733578
|
0.01102
|
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met)
|
rs34777958
|
0.01090
|
NM_001378454.1(ALMS1):c.*154G>C
|
rs77779454
|
0.01084
|
NM_001329943.3(KIAA0586):c.2553+11G>A
|
rs78511804
|
0.01083
|
NM_001134831.2(AHI1):c.804A>C (p.Ser268=)
|
rs35528530
|
0.01078
|
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)
|
rs77555300
|
0.01077
|
NM_015681.6(B9D1):c.181C>T (p.Arg61Trp)
|
rs73980038
|
0.01073
|
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=)
|
rs73018799
|
0.01072
|
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)
|
rs78039319
|
0.01071
|
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His)
|
rs35433555
|
0.01070
|
NM_001206927.2(DNAH8):c.5733+11A>G
|
rs7750162
|
0.01069
|
NM_012144.4(DNAI1):c.978A>C (p.Gln326His)
|
rs16931555
|
0.01063
|
NM_001206927.2(DNAH8):c.5490C>A (p.Asp1830Glu)
|
rs45519938
|
0.01062
|
NM_018139.3(DNAAF2):c.144C>A (p.Asn48Lys)
|
rs116185352
|
0.01062
|
NM_001369.3(DNAH5):c.3598+20T>C
|
rs114961699
|
0.01057
|
NM_024809.5(TCTN2):c.*45G>A
|
rs142969969
|
0.01053
|
NM_033028.5(BBS4):c.712-17C>G
|
rs150754122
|
0.01051
|
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=)
|
rs10135645
|
0.01047
|
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_001034853.2(RPGR):c.2808A>T (p.Glu936Asp)
|
rs187844918
|
0.01026
|
NM_001369.3(DNAH5):c.13338+16C>T
|
rs115271897
|
0.01021
|
NM_080860.4(RSPH1):c.120C>T (p.Asn40=)
|
rs116480603
|
0.01020
|
NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala)
|
rs79386936
|
0.01017
|
NM_015662.3(IFT172):c.571-15C>G
|
rs75809198
|
0.01015
|
NM_018718.3(CEP41):c.*3783T>C
|
rs117071818
|
0.01015
|
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val)
|
rs35636875
|
0.01015
|
NM_001369.3(DNAH5):c.*1591T>A
|
rs115520709
|
0.01013
|
NM_144596.4(TTC8):c.*493T>C
|
rs60082659
|
0.01012
|
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=)
|
rs146191243
|
0.01011
|
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys)
|
rs571655
|
0.01009
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
NM_024753.5(TTC21B):c.*974C>G
|
rs145794135
|
0.01001
|
NM_018051.5(DYNC2I1):c.604C>G (p.Leu202Val)
|
rs73527702
|
0.00999
|
NM_153717.3(EVC):c.385-16C>T
|
rs113571700
|
0.00995
|
NM_024685.4(BBS10):c.*87A>C
|
rs138936387
|
0.00985
|
NM_018051.5(DYNC2I1):c.941C>T (p.Ala314Val)
|
rs139730326
|
0.00984
|
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)
|
rs118143944
|
0.00983
|
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=)
|
rs115526767
|
0.00982
|
NM_001134831.2(AHI1):c.2961+9del
|
rs756875846
|
0.00980
|
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)
|
rs59252892
|
0.00979
|
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)
|
rs79251326
|
0.00978
|
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn)
|
rs35287723
|
0.00977
|
NM_015896.4(ZMYND10):c.970C>A (p.Pro324Thr)
|
rs75782239
|
0.00971
|
NM_017802.4(DNAAF5):c.1056C>T (p.Leu352=)
|
rs77384933
|
0.00971
|
NM_153717.3(EVC):c.2505G>A (p.Ser835=)
|
rs115976359
|
0.00969
|
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=)
|
rs4889815
|
0.00968
|
NM_001369.3(DNAH5):c.6061+10A>G
|
rs77957856
|
0.00962
|
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val)
|
rs115109673
|
0.00961
|
NM_015512.5(DNAH1):c.6191A>G (p.Asn2064Ser)
|
rs145673040
|
0.00959
|
NM_001364171.2(ODAD1):c.1636G>A (p.Ala546Thr)
|
rs114111020
|
0.00957
|
NM_001369.3(DNAH5):c.12280-17T>C
|
rs10214399
|
0.00956
|
NM_024753.5(TTC21B):c.2462-19A>C
|
rs146509360
|
0.00946
|
NM_001206927.2(DNAH8):c.11331T>A (p.Thr3777=)
|
rs75954496
|
0.00945
|
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)
|
rs61734951
|
0.00943
|
NM_170784.3(MKKS):c.-58T>C
|
rs114068950
|
0.00943
|
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His)
|
rs34879202
|
0.00942
|
NM_145038.5(DRC1):c.36G>C (p.Pro12=)
|
rs116549039
|
0.00942
|
NM_001369.3(DNAH5):c.5484+17T>C
|
rs16902828
|
0.00937
|
NM_001206927.2(DNAH8):c.5127C>T (p.Leu1709=)
|
rs61748643
|
0.00931
|
NM_001364171.2(ODAD1):c.2027G>A (p.Ser676Asn)
|
rs74351635
|
0.00931
|
NM_016464.5(TMEM138):c.-24G>A
|
rs116455434
|
0.00930
|
NM_001369.3(DNAH5):c.6579+20G>A
|
rs115382993
|
0.00928
|
NM_019892.6(INPP5E):c.1387+19C>T
|
rs114698406
|
0.00926
|
NM_012224.2(NEK1):c.-640T>G
|
rs549272215
|
0.00924
|
NM_145045.5(ODAD3):c.1501G>A (p.Gly501Ser)
|
rs77133587
|
0.00924
|
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr)
|
rs115348383
|
0.00917
|
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)
|
rs62151609
|
0.00915
|
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_147127.5(EVC2):c.1311A>G (p.Leu437=)
|
rs77131452
|
0.00904
|
NM_015512.5(DNAH1):c.4588A>G (p.Asn1530Asp)
|
rs74498533
|
0.00903
|
NM_198525.3(KIF7):c.2271C>T (p.Ala757=)
|
rs35451920
|
0.00897
|
NM_001277115.2(DNAH11):c.4455A>G (p.Leu1485=)
|
rs79119693
|
0.00895
|
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=)
|
rs34671383
|
0.00895
|
NM_001377.3(DYNC2H1):c.4968+18G>A
|
rs144263658
|
0.00894
|
NM_052844.4(DYNC2I2):c.1373-5T>G
|
rs16930544
|
0.00891
|
NM_001206927.2(DNAH8):c.4303-14A>G
|
rs115404395
|
0.00890
|
NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr)
|
rs535621809
|
0.00887
|
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln)
|
rs138529452
|
0.00883
|
NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met)
|
rs114601492
|
0.00882
|
NM_152384.3(BBS5):c.285C>T (p.Leu95=)
|
rs6752540
|
0.00882
|
NM_152384.3(BBS5):c.501T>A (p.Val167=)
|
rs75690869
|
0.00879
|
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met)
|
rs72655972
|
0.00876
|
NM_001010892.3(RSPH4A):c.1798+11G>A
|
rs41290844
|
0.00873
|
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln)
|
rs34218557
|
0.00872
|
NM_001256715.2(DNAAF3):c.-5+5G>T
|
rs114393069
|
0.00871
|
NM_198428.3(BBS9):c.555C>T (p.Ala185=)
|
rs35440033
|
0.00871
|
NM_001364171.2(ODAD1):c.1672G>A (p.Ala558Thr)
|
rs115124604
|
0.00870
|
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg)
|
rs114024753
|
0.00863
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
NM_181426.2(CCDC39):c.2159-16A>C
|
rs147028259
|
0.00860
|
NM_018076.5(ODAD2):c.2805C>A (p.Asn935Lys)
|
rs35181927
|
0.00859
|
NM_001044385.3(TMEM237):c.*1489G>C
|
rs78220061
|
0.00855
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_033028.5(BBS4):c.180A>G (p.Gln60=)
|
rs114434361
|
0.00852
|
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg)
|
rs73074138
|
0.00851
|
NM_025132.4(WDR19):c.1581C>A (p.Thr527=)
|
rs114689848
|
0.00847
|
NM_015512.5(DNAH1):c.8215A>G (p.Ile2739Val)
|
rs61734631
|
0.00845
|
NM_001256715.2(DNAAF3):c.6C>T (p.Thr2=)
|
rs150362958
|
0.00844
|
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs)
|
rs200353947
|
0.00844
|
NM_176824.3(BBS7):c.*1202G>A
|
rs3217756
|
0.00843
|
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=)
|
rs114177619
|
0.00835
|
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys)
|
rs139160176
|
0.00831
|
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)
|
rs61740509
|
0.00831
|
NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys)
|
rs111626991
|
0.00830
|
NM_033124.5(CCDC65):c.1021G>T (p.Asp341Tyr)
|
rs117646559
|
0.00829
|
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=)
|
rs61741227
|
0.00828
|
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser)
|
rs77289466
|
0.00827
|
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=)
|
rs76266696
|
0.00818
|
NM_001277115.2(DNAH11):c.13176G>C (p.Thr4392=)
|
rs79449551
|
0.00817
|
NM_020779.4(WDR35):c.1089G>A (p.Thr363=)
|
rs79829477
|
0.00817
|
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)
|
rs150138016
|
0.00815
|
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys)
|
rs35062203
|
0.00814
|
NM_031885.5(BBS2):c.*316A>G
|
rs17341965
|
0.00814
|
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_198525.3(KIF7):c.-52G>T
|
rs116805116
|
0.00808
|
NM_144596.4(TTC8):c.625-5C>T
|
rs137853922
|
0.00807
|
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)
|
rs144635565
|
0.00806
|
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly)
|
rs3783697
|
0.00806
|
NM_001375405.1(CEP120):c.1431-10_1431-9del
|
rs1491225681
|
0.00803
|
NM_001369.3(DNAH5):c.6579+6A>G
|
rs141389162
|
0.00798
|
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=)
|
rs16822802
|
0.00798
|
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)
|
rs151247357
|
0.00794
|
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu)
|
rs137991407
|
0.00785
|
NM_147127.5(EVC2):c.*394A>G
|
rs138063943
|
0.00784
|
NM_001382391.1(CSPP1):c.3110-11A>G
|
rs148930801
|
0.00781
|
NM_001481.3(GAS8):c.833G>A (p.Arg278His)
|
rs117053233
|
0.00781
|
NM_015662.3(IFT172):c.1338T>C (p.Asn446=)
|
rs61743327
|
0.00780
|
NM_001372.4(DNAH9):c.6259A>G (p.Met2087Val)
|
rs9892290
|
0.00777
|
NM_012144.4(DNAI1):c.1401+17G>A
|
rs138412741
|
0.00773
|
NM_001277115.2(DNAH11):c.7812-18C>G
|
rs147865931
|
0.00771
|
NM_145038.5(DRC1):c.992C>T (p.Thr331Ile)
|
rs143181834
|
0.00771
|
NM_001277115.2(DNAH11):c.11200A>C (p.Lys3734Gln)
|
rs114257197
|
0.00770
|
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys)
|
rs61749025
|
0.00769
|
NM_198428.3(BBS9):c.*371G>A
|
rs79271934
|
0.00768
|
NM_198428.3(BBS9):c.2220G>A (p.Leu740=)
|
rs115809567
|
0.00765
|
NM_001044385.3(TMEM237):c.75-13T>C
|
rs116829037
|
0.00764
|
NM_001377.3(DYNC2H1):c.1485+19G>A
|
rs111375449
|
0.00764
|
NM_031924.8(RSPH3):c.242G>A (p.Arg81Gln)
|
rs41267751
|
0.00764
|
NM_001364171.2(ODAD1):c.988+11C>A
|
rs112569880
|
0.00763
|
NM_003114.5(SPAG1):c.1586T>C (p.Met529Thr)
|
rs78436093
|
0.00763
|
NM_001481.3(GAS8):c.289-12A>G
|
rs116537058
|
0.00762
|
NM_052844.4(DYNC2I2):c.888A>G (p.Leu296=)
|
rs140034879
|
0.00761
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe)
|
rs144099135
|
0.00760
|
NM_001375405.1(CEP120):c.2182A>G (p.Ser728Gly)
|
rs61744334
|
0.00757
|
NM_001277115.2(DNAH11):c.5359T>C (p.Leu1787=)
|
rs75932225
|
0.00755
|
NM_145045.5(ODAD3):c.173T>C (p.Phe58Ser)
|
rs61741137
|
0.00754
|
NM_015512.5(DNAH1):c.3201C>T (p.Cys1067=)
|
rs114066123
|
0.00742
|
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)
|
rs79644671
|
0.00740
|
NM_001277115.2(DNAH11):c.8188G>T (p.Gly2730Cys)
|
rs28549882
|
0.00739
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_003114.5(SPAG1):c.596G>C (p.Gly199Ala)
|
rs35305781
|
0.00733
|
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)
|
rs60582583
|
0.00733
|
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)
|
rs62000428
|
0.00732
|
NM_001034853.2(RPGR):c.1033A>G (p.Asn345Asp)
|
rs41305223
|
0.00731
|
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp)
|
rs28718831
|
0.00730
|
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=)
|
rs137993810
|
0.00730
|
NM_001369.3(DNAH5):c.*775G>A
|
rs146040448
|
0.00728
|
NM_018051.5(DYNC2I1):c.2418G>T (p.Gly806=)
|
rs11505215
|
0.00726
|
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)
|
rs75714509
|
0.00723
|
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=)
|
rs146396078
|
0.00721
|
NM_001082538.3(TCTN1):c.220+12G>C
|
rs76843552
|
0.00719
|
NM_001364171.2(ODAD1):c.1214G>A (p.Arg405Gln)
|
rs73585360
|
0.00719
|
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr)
|
rs77014998
|
0.00719
|
NM_021147.5(CCNO):c.790G>C (p.Gly264Arg)
|
rs138440180
|
0.00719
|
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)
|
rs138007679
|
0.00716
|
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys)
|
rs115075057
|
0.00713
|
NM_015662.3(IFT172):c.4745T>C (p.Ile1582Thr)
|
rs61742074
|
0.00712
|
NM_198428.3(BBS9):c.1694-6T>C
|
rs28622379
|
0.00710
|
NM_001134831.2(AHI1):c.2962-16A>G
|
rs41287056
|
0.00707
|
NM_001277115.2(DNAH11):c.7441-19A>G
|
rs10247099
|
0.00707
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
NM_014956.5(CEP164):c.1480C>A (p.Pro494Thr)
|
rs114396665
|
0.00703
|
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=)
|
rs140498500
|
0.00702
|
NM_014714.4(IFT140):c.322G>A (p.Val108Met)
|
rs146128830
|
0.00695
|
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val)
|
rs59248588
|
0.00694
|
NM_014704.4(CEP104):c.1836+14G>A
|
rs75027831
|
0.00691
|
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr)
|
rs74055693
|
0.00689
|
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His)
|
rs115480556
|
0.00689
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00688
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met)
|
rs61757218
|
0.00685
|
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=)
|
rs143552175
|
0.00685
|
NM_031924.8(RSPH3):c.141A>G (p.Gly47=)
|
rs116017511
|
0.00682
|
NM_001206927.2(DNAH8):c.4265G>A (p.Arg1422His)
|
rs145309531
|
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_015102.5(NPHP4):c.1542G>A (p.Pro514=)
|
rs35264155
|
0.00677
|
NM_153717.3(EVC):c.780G>A (p.Lys260=)
|
rs41269555
|
0.00676
|
NM_018076.5(ODAD2):c.717G>A (p.Pro239=)
|
rs150780082
|
0.00675
|
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=)
|
rs117178504
|
0.00672
|
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala)
|
rs138972736
|
0.00672
|
NM_001378615.1(CC2D2A):c.541-20T>G
|
rs114335547
|
0.00669
|
NM_031427.4(DNAL1):c.391+9A>G
|
rs149911093
|
0.00668
|
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile)
|
rs61745119
|
0.00667
|
NM_016616.5(NME8):c.994+19A>G
|
rs73340816
|
0.00665
|
NM_176824.3(BBS7):c.186C>T (p.Pro62=)
|
rs35194418
|
0.00662
|
NM_014704.4(CEP104):c.552A>T (p.Glu184Asp)
|
rs61745578
|
0.00658
|
NM_198428.3(BBS9):c.2116-20G>A
|
rs149813362
|
0.00658
|
NM_014704.4(CEP104):c.1363C>T (p.Leu455=)
|
rs115015364
|
0.00657
|
NM_014704.4(CEP104):c.177G>A (p.Leu59=)
|
rs79859848
|
0.00657
|
NM_001034853.2(RPGR):c.3407G>A (p.Gly1136Asp)
|
rs150960964
|
0.00656
|
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_014704.4(CEP104):c.1386A>G (p.Leu462=)
|
rs76234817
|
0.00655
|
NM_018076.5(ODAD2):c.1743+11G>A
|
rs74127161
|
0.00653
|
NM_012472.6(DNAAF11):c.914+13A>G
|
rs113135637
|
0.00652
|
NM_001277115.2(DNAH11):c.7332G>A (p.Pro2444=)
|
rs28370951
|
0.00650
|
NM_147127.5(EVC2):c.2707-5T>C
|
rs186058156
|
0.00650
|
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)
|
rs62000409
|
0.00649
|
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala)
|
rs4150187
|
0.00649
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
NM_018139.3(DNAAF2):c.1626G>C (p.Arg542=)
|
rs35763780
|
0.00645
|
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)
|
rs144439937
|
0.00644
|
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_001206927.2(DNAH8):c.7551T>C (p.Asp2517=)
|
rs78611987
|
0.00639
|
NM_003611.3(OFD1):c.714T>C (p.Tyr238=)
|
rs139848884
|
0.00637
|
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=)
|
rs79935028
|
0.00635
|
NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val)
|
rs114292876
|
0.00632
|
NM_003611.3(OFD1):c.1020G>A (p.Glu340=)
|
rs5979959
|
0.00630
|
NM_001277115.2(DNAH11):c.6117G>A (p.Ala2039=)
|
rs78763603
|
0.00628
|
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His)
|
rs116872934
|
0.00628
|
NM_080860.4(RSPH1):c.450C>T (p.Ala150=)
|
rs117797631
|
0.00628
|
NM_001382391.1(CSPP1):c.3220+13A>G
|
rs139491415
|
0.00625
|
NM_152384.3(BBS5):c.620G>A (p.Arg207His)
|
rs35487251
|
0.00625
|
NM_001034853.2(RPGR):c.778+13T>A
|
rs199625400
|
0.00624
|
NM_001206927.2(DNAH8):c.4449G>A (p.Glu1483=)
|
rs61757623
|
0.00622
|
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser)
|
rs200876696
|
0.00622
|
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)
|
rs34737974
|
0.00618
|
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val)
|
rs77106136
|
0.00617
|
NM_181426.2(CCDC39):c.2669+6C>T
|
rs57859179
|
0.00616
|
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser)
|
rs73682656
|
0.00615
|
NM_014714.4(IFT140):c.2550C>T (p.Ala850=)
|
rs2745180
|
0.00615
|
NM_020779.4(WDR35):c.*1406A>G
|
rs10197681
|
0.00613
|
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr)
|
rs61737514
|
0.00612
|
NM_001206927.2(DNAH8):c.12264C>T (p.Asp4088=)
|
rs61748647
|
0.00611
|
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)
|
rs16931549
|
0.00609
|
NM_024649.5(BBS1):c.*187C>T
|
rs148117167
|
0.00609
|
NM_033124.5(CCDC65):c.1429G>A (p.Gly477Ser)
|
rs117927481
|
0.00609
|
NM_001277115.2(DNAH11):c.1426-9T>C
|
rs72655983
|
0.00607
|
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=)
|
rs144624858
|
0.00606
|
NM_015662.3(IFT172):c.2858G>A (p.Arg953His)
|
rs704793
|
0.00606
|
NM_018076.5(ODAD2):c.612T>A (p.Asp204Glu)
|
rs61729354
|
0.00602
|
NM_003611.3(OFD1):c.2929-18C>T
|
rs180940027
|
0.00601
|
NM_001277115.2(DNAH11):c.3105G>A (p.Glu1035=)
|
rs191011620
|
0.00599
|
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val)
|
rs151156076
|
0.00599
|
NM_015102.5(NPHP4):c.1442-7C>T
|
rs146078470
|
0.00599
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
NM_001277115.2(DNAH11):c.8266T>C (p.Cys2756Arg)
|
rs74667361
|
0.00596
|
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val)
|
rs117064287
|
0.00595
|
NM_001364171.2(ODAD1):c.1275C>T (p.Asp425=)
|
rs35930441
|
0.00595
|
NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=)
|
rs113537035
|
0.00594
|
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)
|
rs114126795
|
0.00589
|
NM_176824.3(BBS7):c.1505A>G (p.His502Arg)
|
rs114718913
|
0.00589
|
NM_001481.3(GAS8):c.595G>A (p.Glu199Lys)
|
rs868044
|
0.00586
|
NM_015512.5(DNAH1):c.7608+20G>A
|
rs143306113
|
0.00586
|
NM_017802.4(DNAAF5):c.2240-12C>T
|
rs114742749
|
0.00586
|
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)
|
rs147371999
|
0.00585
|
NM_153704.6(TMEM67):c.506+18G>T
|
rs116705535
|
0.00585
|
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu)
|
rs61746932
|
0.00584
|
NM_001481.3(GAS8):c.1188T>G (p.Pro396=)
|
rs61734729
|
0.00582
|
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=)
|
rs144035254
|
0.00581
|
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)
|
rs28730852
|
0.00579
|
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_015102.5(NPHP4):c.3674C>T (p.Thr1225Met)
|
rs144624477
|
0.00576
|
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_147127.5(EVC2):c.1730T>C (p.Met577Thr)
|
rs113869406
|
0.00570
|
NM_001206927.2(DNAH8):c.7171G>T (p.Ala2391Ser)
|
rs61758417
|
0.00566
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
NM_145038.5(DRC1):c.1067C>T (p.Ala356Val)
|
rs78892546
|
0.00566
|
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys)
|
rs34076967
|
0.00563
|
NM_001377.3(DYNC2H1):c.11726-10A>T
|
rs185916947
|
0.00561
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=)
|
rs55740606
|
0.00560
|
NM_024685.4(BBS10):c.966T>C (p.Tyr322=)
|
rs139053702
|
0.00560
|
NM_001277115.2(DNAH11):c.858A>G (p.Glu286=)
|
rs185273259
|
0.00558
|
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=)
|
rs78599571
|
0.00555
|
NM_014714.4(IFT140):c.1524+3A>G
|
rs149791451
|
0.00552
|
NM_198525.3(KIF7):c.1266C>G (p.Leu422=)
|
rs8030837
|
0.00552
|
NM_001369.3(DNAH5):c.5115-4G>T
|
rs141141086
|
0.00551
|
NM_001206927.2(DNAH8):c.4084-4G>T
|
rs61748602
|
0.00549
|
NM_018051.5(DYNC2I1):c.1685G>A (p.Ser562Asn)
|
rs143753088
|
0.00545
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_015631.6(TCTN3):c.630T>C (p.Ala210=)
|
rs41299157
|
0.00543
|
NM_014714.4(IFT140):c.4040+10C>T
|
rs138364426
|
0.00542
|
NM_015896.4(ZMYND10):c.1073A>G (p.Gln358Arg)
|
rs114329675
|
0.00540
|
NM_198428.3(BBS9):c.1110C>T (p.Asn370=)
|
rs61753524
|
0.00539
|
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=)
|
rs115338154
|
0.00537
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_001206927.2(DNAH8):c.8259+12A>T
|
rs188009638
|
0.00536
|
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu)
|
rs6828134
|
0.00535
|
NM_017802.4(DNAAF5):c.1678C>T (p.Arg560Cys)
|
rs73258248
|
0.00535
|
NM_001256715.2(DNAAF3):c.323-4del
|
rs201986299
|
0.00533
|
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr)
|
rs61735931
|
0.00533
|
NM_198075.4(LRRC56):c.35G>A (p.Arg12Gln)
|
rs2277269
|
0.00533
|
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)
|
rs149814240
|
0.00533
|
NM_014714.4(IFT140):c.4040+11G>A
|
rs144624901
|
0.00530
|
NM_017950.4(CCDC40):c.1441-18C>G
|
rs181295177
|
0.00530
|
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)
|
rs11554412
|
0.00529
|
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe)
|
rs61736879
|
0.00529
|
NM_001206927.2(DNAH8):c.12591G>A (p.Thr4197=)
|
rs59067570
|
0.00528
|
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=)
|
rs77477793
|
0.00527
|
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu)
|
rs148624326
|
0.00526
|
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=)
|
rs147850047
|
0.00526
|
NM_016616.5(NME8):c.271-14C>T
|
rs75531720
|
0.00526
|
NM_001277115.2(DNAH11):c.9642A>G (p.Ala3214=)
|
rs72657384
|
0.00525
|
NM_001378454.1(ALMS1):c.12362+18A>T
|
rs535484933
|
0.00525
|
NM_001481.3(GAS8):c.476T>A (p.Val159Glu)
|
rs116113385
|
0.00525
|
NM_181426.2(CCDC39):c.*800G>A
|
rs114500310
|
0.00525
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
NM_052844.4(DYNC2I2):c.957G>A (p.Leu319=)
|
rs75450756
|
0.00524
|
NM_153717.3(EVC):c.*2132A>G
|
rs11939264
|
0.00524
|
NM_015896.4(ZMYND10):c.1105C>T (p.Arg369Trp)
|
rs142613783
|
0.00523
|
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=)
|
rs72655977
|
0.00522
|
NM_015662.3(IFT172):c.4428+5C>G
|
rs114235369
|
0.00521
|
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp)
|
rs114142742
|
0.00521
|
NM_001206927.2(DNAH8):c.5701C>T (p.Leu1901Phe)
|
rs111580219
|
0.00520
|
NM_015690.5(STK36):c.3540C>T (p.Ala1180=)
|
rs2241528
|
0.00518
|
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)
|
rs79708859
|
0.00517
|
NM_017950.4(CCDC40):c.2832+20G>A
|
rs78493584
|
0.00516
|
NM_001277115.2(DNAH11):c.693-9T>C
|
rs72655973
|
0.00515
|
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)
|
rs28730855
|
0.00515
|
NM_015662.3(IFT172):c.4659+16T>C
|
rs143060452
|
0.00514
|
NM_017802.4(DNAAF5):c.1319T>G (p.Ile440Ser)
|
rs148065657
|
0.00513
|
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp)
|
rs116502852
|
0.00513
|
NM_001375405.1(CEP120):c.362A>G (p.Lys121Arg)
|
rs147273517
|
0.00512
|
NM_147127.5(EVC2):c.1845C>T (p.Thr615=)
|
rs112747818
|
0.00512
|
NM_152618.3(BBS12):c.1103G>A (p.Arg368His)
|
rs78457123
|
0.00511
|
NM_033124.5(CCDC65):c.1134G>A (p.Gly378=)
|
rs116473422
|
0.00510
|
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr)
|
rs150920905
|
0.00508
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=)
|
rs148006211
|
0.00501
|
NM_178452.6(DNAAF1):c.2109A>G (p.Gly703=)
|
rs35214636
|
0.00501
|
NM_031924.8(RSPH3):c.1136A>G (p.Gln379Arg)
|
rs144678437
|
0.00499
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)
|
rs149313666
|
0.00495
|
NM_015681.6(B9D1):c.-110G>A
|
rs117169107
|
0.00495
|
NM_001277115.2(DNAH11):c.1535T>A (p.Met512Lys)
|
rs72655984
|
0.00494
|
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_001206927.2(DNAH8):c.8259+6G>A
|
rs112605623
|
0.00487
|
NM_020800.3(IFT80):c.2139T>C (p.Asp713=)
|
rs16831157
|
0.00485
|
NM_181426.2(CCDC39):c.2432G>A (p.Arg811His)
|
rs61733583
|
0.00485
|
NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys)
|
rs140048925
|
0.00483
|
NM_001378454.1(ALMS1):c.11872+18G>A
|
rs139647347
|
0.00482
|
NM_080860.4(RSPH1):c.365+13T>C
|
rs181902996
|
0.00482
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_001277115.2(DNAH11):c.8362C>G (p.His2788Asp)
|
rs147478795
|
0.00481
|
NM_001382391.1(CSPP1):c.-121A>G
|
rs181470846
|
0.00481
|
NM_017950.4(CCDC40):c.630C>T (p.Ser210=)
|
rs117419007
|
0.00481
|
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=)
|
rs60094861
|
0.00477
|
NM_001377.3(DYNC2H1):c.3097-4A>G
|
rs368802969
|
0.00476
|
NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=)
|
rs76833922
|
0.00476
|
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)
|
rs111315726
|
0.00476
|
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser)
|
rs61743977
|
0.00470
|
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=)
|
rs2985688
|
0.00470
|
NM_023036.6(DNAI2):c.865-18C>T
|
rs117075898
|
0.00470
|
NM_024649.5(BBS1):c.1020C>G (p.Ser340=)
|
rs35209408
|
0.00470
|
NM_001277115.2(DNAH11):c.6468+14T>C
|
rs114409690
|
0.00469
|
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)
|
rs201636741
|
0.00468
|
NM_001134831.2(AHI1):c.932-10A>G
|
rs114319588
|
0.00468
|
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=)
|
rs143885319
|
0.00467
|
NM_181426.2(CCDC39):c.1875-20G>A
|
rs73051759
|
0.00467
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=)
|
rs142611294
|
0.00466
|
NM_031885.5(BBS2):c.209= (p.Ser70=)
|
rs4784677
|
0.00466
|
NM_198525.3(KIF7):c.294A>G (p.Ser98=)
|
rs145049849
|
0.00465
|
NM_001206927.2(DNAH8):c.8339T>C (p.Ile2780Thr)
|
rs142328376
|
0.00463
|
NM_016616.5(NME8):c.528+11T>C
|
rs117681493
|
0.00463
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
NM_080860.4(RSPH1):c.733G>A (p.Gly245Arg)
|
rs151158140
|
0.00463
|
NM_147127.5(EVC2):c.675A>G (p.Gly225=)
|
rs74930168
|
0.00463
|
NM_001277115.2(DNAH11):c.4501-7A>T
|
rs62447794
|
0.00461
|
NM_033028.5(BBS4):c.1106+20T>C
|
rs145968663
|
0.00461
|
NM_001364171.2(ODAD1):c.730G>A (p.Glu244Lys)
|
rs114078313
|
0.00460
|
NM_001377.3(DYNC2H1):c.6477+14A>T
|
rs111970770
|
0.00460
|
NM_001277115.2(DNAH11):c.2275-15G>T
|
rs60290948
|
0.00458
|
NM_023036.6(DNAI2):c.747C>T (p.Gly249=)
|
rs148488355
|
0.00458
|
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg)
|
rs34620165
|
0.00458
|
NM_001364171.2(ODAD1):c.1788C>T (p.His596=)
|
rs147072026
|
0.00457
|
NM_015512.5(DNAH1):c.2919C>T (p.His973=)
|
rs149114984
|
0.00455
|
NM_024753.5(TTC21B):c.2950+16T>C
|
rs142565795
|
0.00455
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_001134831.2(AHI1):c.2916T>G (p.Ser972=)
|
rs140280929
|
0.00451
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_001173990.3(TMEM216):c.35-17C>T
|
rs147953784
|
0.00450
|
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=)
|
rs72657379
|
0.00449
|
NM_001277115.2(DNAH11):c.10027-10T>C
|
rs116368970
|
0.00445
|
NM_001277115.2(DNAH11):c.4726-15T>C
|
rs17144822
|
0.00445
|
NM_014956.5(CEP164):c.3932C>G (p.Thr1311Ser)
|
rs61743854
|
0.00444
|
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu)
|
rs113413307
|
0.00443
|
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met)
|
rs146569005
|
0.00441
|
NM_001206927.2(DNAH8):c.4908G>T (p.Glu1636Asp)
|
rs61757219
|
0.00440
|
NM_001369.3(DNAH5):c.5707C>T (p.Leu1903=)
|
rs7719896
|
0.00439
|
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_031427.4(DNAL1):c.153-12G>C
|
rs201880561
|
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_015512.5(DNAH1):c.2717A>G (p.Asp906Gly)
|
rs61734644
|
0.00434
|
NM_001369.3(DNAH5):c.6062-4G>A
|
rs143392650
|
0.00433
|
NM_014704.4(CEP104):c.416T>C (p.Ile139Thr)
|
rs76925798
|
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_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)
|
rs58093963
|
0.00429
|
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser)
|
rs75145370
|
0.00429
|
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys)
|
rs146431326
|
0.00429
|
NM_001277115.2(DNAH11):c.12644T>C (p.Ile4215Thr)
|
rs150663302
|
0.00428
|
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val)
|
rs72657373
|
0.00428
|
NM_015512.5(DNAH1):c.3111G>A (p.Ser1037=)
|
rs77639782
|
0.00426
|
NM_001277115.2(DNAH11):c.6041+18T>C
|
rs72657336
|
0.00425
|
NM_153717.3(EVC):c.*2708G>A
|
rs79112570
|
0.00424
|
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg)
|
rs141088838
|
0.00423
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp)
|
rs141865394
|
0.00423
|
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)
|
rs61741524
|
0.00422
|
NM_014956.5(CEP164):c.2655C>T (p.Thr885=)
|
rs61737637
|
0.00422
|
NM_001206927.2(DNAH8):c.8338A>G (p.Ile2780Val)
|
rs116401640
|
0.00421
|
NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg)
|
rs114281792
|
0.00421
|
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val)
|
rs41291570
|
0.00421
|
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile)
|
rs149244006
|
0.00420
|
NM_020800.3(IFT80):c.371-10C>A
|
rs188321058
|
0.00420
|
NM_001277115.2(DNAH11):c.8478C>T (p.His2826=)
|
rs62445328
|
0.00419
|
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg)
|
rs113097479
|
0.00418
|
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)
|
rs34324114
|
0.00417
|
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe)
|
rs114280473
|
0.00417
|
NM_001369.3(DNAH5):c.2053-23A>C
|
rs114717951
|
0.00416
|
NM_147127.5(EVC2):c.307T>C (p.Leu103=)
|
rs140877783
|
0.00416
|
NM_015512.5(DNAH1):c.9935C>T (p.Thr3312Met)
|
rs114919804
|
0.00415
|
NM_019892.6(INPP5E):c.791G>A (p.Arg264His)
|
rs202197173
|
0.00415
|
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys)
|
rs115004914
|
0.00414
|
NM_015512.5(DNAH1):c.933C>T (p.Asp311=)
|
rs199505182
|
0.00414
|
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn)
|
rs150615436
|
0.00414
|
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=)
|
rs144720929
|
0.00412
|
NM_001364171.2(ODAD1):c.856G>A (p.Gly286Arg)
|
rs73942222
|
0.00411
|
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_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)
|
rs147967974
|
0.00405
|
NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys)
|
rs143362381
|
0.00403
|
NM_145045.5(ODAD3):c.148C>T (p.Pro50Ser)
|
rs143295007
|
0.00403
|
NM_001277115.2(DNAH11):c.2380G>A (p.Glu794Lys)
|
rs78653098
|
0.00401
|
NM_015102.5(NPHP4):c.279+11G>A
|
rs113902159
|
0.00401
|
NM_001277115.2(DNAH11):c.13050-15C>T
|
rs149634292
|
0.00399
|
NM_001277115.2(DNAH11):c.5270C>T (p.Ala1757Val)
|
rs115367126
|
0.00399
|
NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)
|
rs111250144
|
0.00398
|
NM_014704.4(CEP104):c.1884G>T (p.Thr628=)
|
rs12144567
|
0.00398
|
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)
|
rs141340867
|
0.00398
|
NM_001375405.1(CEP120):c.2726+14A>T
|
rs115044327
|
0.00396
|
NM_031924.8(RSPH3):c.956G>A (p.Arg319His)
|
rs147880570
|
0.00396
|
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His)
|
rs183809462
|
0.00395
|
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val)
|
rs7587103
|
0.00394
|
NM_001277115.2(DNAH11):c.6726A>G (p.Leu2242=)
|
rs78152348
|
0.00393
|
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)
|
rs116262072
|
0.00392
|
NM_023036.6(DNAI2):c.124G>A (p.Val42Met)
|
rs151176313
|
0.00389
|
NM_031885.5(BBS2):c.1110T>C (p.Ala370=)
|
rs148990271
|
0.00389
|
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly)
|
rs148891849
|
0.00388
|
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=)
|
rs76523157
|
0.00388
|
NM_014704.4(CEP104):c.1914A>G (p.Arg638=)
|
rs2275829
|
0.00386
|
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)
|
rs41288017
|
0.00383
|
NM_015512.5(DNAH1):c.5094+3A>T
|
rs149183773
|
0.00383
|
NM_016616.5(NME8):c.739G>A (p.Glu247Lys)
|
rs139516225
|
0.00383
|
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr)
|
rs145798624
|
0.00383
|
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)
|
rs149647255
|
0.00381
|
NM_001481.3(GAS8):c.1106G>A (p.Arg369His)
|
rs61734730
|
0.00380
|
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
NM_020800.3(IFT80):c.*1204G>A
|
rs144132950
|
0.00376
|
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)
|
rs144567556
|
0.00376
|
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
|
rs149888762
|
0.00375
|
NM_018076.5(ODAD2):c.1017C>T (p.Leu339=)
|
rs117723546
|
0.00375
|
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)
|
rs61764067
|
0.00375
|
NM_018139.3(DNAAF2):c.1851C>T (p.Asn617=)
|
rs147090213
|
0.00373
|
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val)
|
rs113301547
|
0.00373
|
NM_001364171.2(ODAD1):c.185G>A (p.Arg62His)
|
rs7248372
|
0.00372
|
NM_003114.5(SPAG1):c.877C>T (p.Arg293Trp)
|
rs138503542
|
0.00372
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_052844.4(DYNC2I2):c.616C>T (p.Arg206Cys)
|
rs148543026
|
0.00371
|
NM_023036.6(DNAI2):c.759G>A (p.Ala253=)
|
rs142656395
|
0.00370
|
NM_198428.3(BBS9):c.390T>C (p.Asn130=)
|
rs78283245
|
0.00370
|
NM_002601.4(PDE6D):c.371+8A>C
|
rs75242814
|
0.00367
|
NM_015102.5(NPHP4):c.1503+10G>A
|
rs41307782
|
0.00367
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro)
|
rs148900528
|
0.00366
|
NM_147127.5(EVC2):c.2047-9A>T
|
rs73198154
|
0.00366
|
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=)
|
rs116076068
|
0.00366
|
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)
|
rs142881106
|
0.00365
|
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys)
|
rs145595957
|
0.00365
|
NM_178452.6(DNAAF1):c.1820T>C (p.Phe607Ser)
|
rs144628213
|
0.00365
|
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser)
|
rs62640590
|
0.00361
|
NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=)
|
rs187489343
|
0.00361
|
NM_001277115.2(DNAH11):c.5924+19A>G
|
rs112923391
|
0.00361
|
NM_001377.3(DYNC2H1):c.10650A>G (p.Ser3550=)
|
rs185562630
|
0.00361
|
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=)
|
rs139512700
|
0.00361
|
NM_015662.3(IFT172):c.4540-6C>T
|
rs146140583
|
0.00361
|
NM_020779.4(WDR35):c.2414+20C>T
|
rs116756504
|
0.00361
|
NM_198428.3(BBS9):c.*453C>G
|
rs74748415
|
0.00361
|
NM_001199397.3(NEK1):c.*551A>T
|
rs181225797
|
0.00360
|
NM_015512.5(DNAH1):c.5765+12C>G
|
rs201223427
|
0.00360
|
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)
|
rs112350099
|
0.00359
|
NM_001369.3(DNAH5):c.12465A>G (p.Gln4155=)
|
rs34924315
|
0.00359
|
NM_001382391.1(CSPP1):c.100-13A>G
|
rs78076942
|
0.00359
|
NM_003114.5(SPAG1):c.1435+16C>T
|
rs148767962
|
0.00359
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
NM_018051.5(DYNC2I1):c.2354C>T (p.Pro785Leu)
|
rs61733021
|
0.00358
|
NM_001277115.2(DNAH11):c.5185C>T (p.Pro1729Ser)
|
rs144106494
|
0.00357
|
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_015512.5(DNAH1):c.3090G>A (p.Ala1030=)
|
rs140275399
|
0.00355
|
NM_021147.5(CCNO):c.940G>A (p.Glu314Lys)
|
rs114088695
|
0.00355
|
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys)
|
rs145436538
|
0.00355
|
NM_017950.4(CCDC40):c.1132G>A (p.Ala378Thr)
|
rs116795025
|
0.00354
|
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)
|
rs111293777
|
0.00354
|
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=)
|
rs16903511
|
0.00353
|
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=)
|
rs16903514
|
0.00352
|
NM_145038.5(DRC1):c.909G>T (p.Gln303His)
|
rs139352961
|
0.00352
|
NM_153717.3(EVC):c.*2285C>G
|
rs145479436
|
0.00352
|
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr)
|
rs146416468
|
0.00348
|
NM_001369.3(DNAH5):c.5709+18G>T
|
rs111904415
|
0.00348
|
NM_012144.4(DNAI1):c.639G>A (p.Thr213=)
|
rs78865254
|
0.00348
|
NM_001206927.2(DNAH8):c.4401G>A (p.Thr1467=)
|
rs45622336
|
0.00347
|
NM_003114.5(SPAG1):c.1584G>A (p.Ala528=)
|
rs35252724
|
0.00346
|
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=)
|
rs202082545
|
0.00344
|
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)
|
rs146172074
|
0.00344
|
NM_153704.6(TMEM67):c.507-19T>C
|
rs138589757
|
0.00344
|
NM_018076.5(ODAD2):c.2610+11A>G
|
rs111710872
|
0.00343
|
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met)
|
rs35859404
|
0.00342
|
NM_178452.6(DNAAF1):c.-66T>C
|
rs190497604
|
0.00342
|
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=)
|
rs148674729
|
0.00342
|
NM_147127.5(EVC2):c.2029C>A (p.Arg677=)
|
rs73198165
|
0.00341
|
NM_145038.5(DRC1):c.1976C>T (p.Ser659Leu)
|
rs79027679
|
0.00340
|
NM_181426.2(CCDC39):c.930+12C>G
|
rs1401333
|
0.00338
|
NM_015896.4(ZMYND10):c.727C>T (p.Arg243Cys)
|
rs141055331
|
0.00337
|
NM_017802.4(DNAAF5):c.2472G>A (p.Leu824=)
|
rs114907681
|
0.00336
|
NM_015896.4(ZMYND10):c.202-14C>T
|
rs9825506
|
0.00335
|
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)
|
rs115776799
|
0.00334
|
NM_015512.5(DNAH1):c.2204G>A (p.Ser735Asn)
|
rs187636110
|
0.00334
|
NM_021147.5(CCNO):c.780C>T (p.Ala260=)
|
rs139167004
|
0.00334
|
NM_147127.5(EVC2):c.1224C>T (p.Ala408=)
|
rs114629810
|
0.00334
|
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile)
|
rs183413880
|
0.00334
|
NM_001190787.3(MCIDAS):c.120+3G>A
|
rs186341559
|
0.00332
|
NM_001277115.2(DNAH11):c.12521T>G (p.Leu4174Arg)
|
rs144474011
|
0.00330
|
NM_001277115.2(DNAH11):c.188G>C (p.Gly63Ala)
|
rs6966525
|
0.00330
|
NM_001277115.2(DNAH11):c.4124G>A (p.Arg1375His)
|
rs151018293
|
0.00330
|
NM_001277115.2(DNAH11):c.5028A>G (p.Ala1676=)
|
rs75552110
|
0.00329
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn)
|
rs115910810
|
0.00328
|
NM_018076.5(ODAD2):c.2127C>T (p.Leu709=)
|
rs111586634
|
0.00328
|
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln)
|
rs143192349
|
0.00328
|
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)
|
rs192003811
|
0.00327
|
NM_015512.5(DNAH1):c.5853G>A (p.Val1951=)
|
rs80128076
|
0.00327
|
NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr)
|
rs141185078
|
0.00327
|
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)
|
rs114764023
|
0.00325
|
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)
|
rs138155747
|
0.00322
|
NM_023036.6(DNAI2):c.468-4G>T
|
rs146462823
|
0.00321
|
NM_015631.6(TCTN3):c.21G>A (p.Ala7=)
|
rs61737888
|
0.00320
|
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_003114.5(SPAG1):c.1542G>A (p.Leu514=)
|
rs117747863
|
0.00319
|
NM_015512.5(DNAH1):c.569T>C (p.Ile190Thr)
|
rs61729450
|
0.00319
|
NM_015662.3(IFT172):c.3610G>C (p.Val1204Leu)
|
rs7580439
|
0.00319
|
NM_144596.4(TTC8):c.1401G>A (p.Pro467=)
|
rs114064158
|
0.00319
|
NM_147127.5(EVC2):c.1471-7T>C
|
rs150842594
|
0.00319
|
NM_001206927.2(DNAH8):c.4383G>A (p.Leu1461=)
|
rs145272110
|
0.00317
|
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)
|
rs199568537
|
0.00317
|
NM_015512.5(DNAH1):c.11136G>A (p.Arg3712=)
|
rs147264705
|
0.00317
|
NM_018718.3(CEP41):c.*2482A>T
|
rs189091601
|
0.00317
|
NM_015512.5(DNAH1):c.1244A>G (p.Lys415Arg)
|
rs61729402
|
0.00315
|
NM_015512.5(DNAH1):c.872-15C>T
|
rs143657729
|
0.00315
|
NM_001206927.2(DNAH8):c.12567A>C (p.Glu4189Asp)
|
rs61757618
|
0.00314
|
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=)
|
rs61729923
|
0.00314
|
NM_017802.4(DNAAF5):c.1471-13C>T
|
rs140078958
|
0.00314
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00314
|
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile)
|
rs61742715
|
0.00313
|
NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys)
|
rs116343381
|
0.00313
|
NM_015512.5(DNAH1):c.6138+15G>A
|
rs140592948
|
0.00313
|
NM_001206927.2(DNAH8):c.11340A>G (p.Leu3780=)
|
rs113024778
|
0.00312
|
NM_014714.4(IFT140):c.2247C>T (p.His749=)
|
rs9930526
|
0.00312
|
NM_001206927.2(DNAH8):c.1884A>G (p.Gln628=)
|
rs149534667
|
0.00311
|
NM_015512.5(DNAH1):c.11788-14C>T
|
rs141567808
|
0.00310
|
NM_015512.5(DNAH1):c.12375A>T (p.Thr4125=)
|
rs61734637
|
0.00310
|
NM_001206927.2(DNAH8):c.724C>T (p.Arg242Cys)
|
rs79455046
|
0.00309
|
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=)
|
rs186591691
|
0.00309
|
NM_001277115.2(DNAH11):c.3045G>T (p.Glu1015Asp)
|
rs72657303
|
0.00308
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_153717.3(EVC):c.*1185A>G
|
rs113728951
|
0.00308
|
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)
|
rs138354681
|
0.00308
|
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_198525.3(KIF7):c.1429G>A (p.Ala477Thr)
|
rs527804875
|
0.00307
|
NM_003114.5(SPAG1):c.1103C>T (p.Ala368Val)
|
rs752257877
|
0.00306
|
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile)
|
rs141112088
|
0.00305
|
NM_014704.4(CEP104):c.1308A>T (p.Gly436=)
|
rs148455387
|
0.00305
|
NM_025114.4(CEP290):c.6960+10G>A
|
rs75011402
|
0.00305
|
NM_015512.5(DNAH1):c.8266G>A (p.Val2756Met)
|
rs61749019
|
0.00304
|
NM_015662.3(IFT172):c.2551G>T (p.Val851Leu)
|
rs149748534
|
0.00304
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
NM_014956.5(CEP164):c.3773C>T (p.Ser1258Phe)
|
rs148424362
|
0.00302
|
NM_015512.5(DNAH1):c.10422T>C (p.Leu3474=)
|
rs148913561
|
0.00302
|
NM_015512.5(DNAH1):c.1981A>G (p.Met661Val)
|
rs61734653
|
0.00302
|
NM_015512.5(DNAH1):c.2744A>G (p.Asn915Ser)
|
rs61734643
|
0.00302
|
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=)
|
rs140408058
|
0.00301
|
NM_001375405.1(CEP120):c.1256-18A>G
|
rs371950460
|
0.00300
|
NM_015512.5(DNAH1):c.4263C>T (p.Pro1421=)
|
rs61739897
|
0.00300
|
NM_001206927.2(DNAH8):c.9943G>A (p.Ala3315Thr)
|
rs76387239
|
0.00299
|
NM_001277115.2(DNAH11):c.13163-19T>A
|
rs72658832
|
0.00299
|
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=)
|
rs201207627
|
0.00299
|
NM_001369.3(DNAH5):c.4796+11C>A
|
rs146696580
|
0.00299
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=)
|
rs28730858
|
0.00297
|
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_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
NM_017802.4(DNAAF5):c.1689T>C (p.Ile563=)
|
rs151227818
|
0.00296
|
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu)
|
rs73693125
|
0.00295
|
NM_012224.2(NEK1):c.-654C>T
|
rs72694709
|
0.00295
|
NM_015681.6(B9D1):c.237C>G (p.Pro79=)
|
rs149051059
|
0.00295
|
NM_017950.4(CCDC40):c.2236-15G>A
|
rs148674510
|
0.00295
|
NM_001375405.1(CEP120):c.2145T>C (p.Thr715=)
|
rs113911260
|
0.00294
|
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val)
|
rs144670544
|
0.00294
|
NM_001277115.2(DNAH11):c.8798-5G>A
|
rs189821372
|
0.00292
|
NM_145038.5(DRC1):c.1492C>G (p.Leu498Val)
|
rs143980408
|
0.00292
|
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)
|
rs79327004
|
0.00290
|
NM_001382391.1(CSPP1):c.484-15T>G
|
rs199671558
|
0.00290
|
NM_014714.4(IFT140):c.2988T>C (p.Asn996=)
|
rs78178397
|
0.00290
|
NM_014704.4(CEP104):c.490-18G>A
|
rs150128798
|
0.00289
|
NM_015512.5(DNAH1):c.1286+16G>A
|
rs190176840
|
0.00289
|
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val)
|
rs373038988
|
0.00288
|
NM_001206927.2(DNAH8):c.832A>G (p.Ile278Val)
|
rs147580001
|
0.00287
|
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)
|
rs34352773
|
0.00287
|
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)
|
rs116483694
|
0.00287
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr)
|
rs141651941
|
0.00285
|
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)
|
rs45630557
|
0.00285
|
NM_020779.4(WDR35):c.2262C>T (p.Asp754=)
|
rs147206032
|
0.00285
|
NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
NM_018051.5(DYNC2I1):c.1791+19T>C
|
rs199724771
|
0.00284
|
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=)
|
rs34265978
|
0.00283
|
NM_020800.3(IFT80):c.1076+9C>G
|
rs139408398
|
0.00283
|
NM_001206927.2(DNAH8):c.2526G>A (p.Gln842=)
|
rs141289823
|
0.00282
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_012144.4(DNAI1):c.2001+19T>A
|
rs144066349
|
0.00281
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
NM_001134831.2(AHI1):c.178A>G (p.Thr60Ala)
|
rs115502075
|
0.00279
|
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala)
|
rs144236383
|
0.00278
|
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)
|
rs116445698
|
0.00278
|
NM_001364171.2(ODAD1):c.266G>C (p.Arg89Pro)
|
rs58966182
|
0.00277
|
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)
|
rs143567667
|
0.00277
|
NM_145045.5(ODAD3):c.1203G>A (p.Arg401=)
|
rs199934107
|
0.00277
|
NM_014704.4(CEP104):c.1966C>T (p.Arg656Cys)
|
rs148465057
|
0.00276
|
NM_019892.6(INPP5E):c.1159+8C>T
|
rs73566945
|
0.00276
|
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=)
|
rs113835820
|
0.00275
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_014714.4(IFT140):c.492-20C>T
|
rs149012740
|
0.00273
|
NM_015512.5(DNAH1):c.7375G>A (p.Glu2459Lys)
|
rs201064587
|
0.00273
|
NM_021147.5(CCNO):c.957G>A (p.Lys319=)
|
rs7712656
|
0.00273
|
NM_145038.5(DRC1):c.2070C>T (p.Val690=)
|
rs114106015
|
0.00273
|
NM_001256715.2(DNAAF3):c.913-13C>T
|
rs146442289
|
0.00272
|
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)
|
rs61745066
|
0.00272
|
NM_001481.3(GAS8):c.1029C>T (p.Asp343=)
|
rs7205066
|
0.00272
|
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=)
|
rs56931633
|
0.00272
|
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)
|
rs150880478
|
0.00272
|
NM_015512.5(DNAH1):c.1172A>G (p.Tyr391Cys)
|
rs181418923
|
0.00270
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala)
|
rs149454830
|
0.00267
|
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)
|
rs147383873
|
0.00265
|
NM_017950.4(CCDC40):c.2785G>A (p.Gly929Ser)
|
rs59896146
|
0.00264
|
NM_001206927.2(DNAH8):c.14100G>T (p.Val4700=)
|
rs113990988
|
0.00263
|
NM_020779.4(WDR35):c.318T>C (p.Ile106=)
|
rs115963122
|
0.00263
|
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=)
|
rs80133984
|
0.00262
|
NM_015512.5(DNAH1):c.5674A>C (p.Met1892Leu)
|
rs147123898
|
0.00262
|
NM_080860.4(RSPH1):c.730G>A (p.Ala244Thr)
|
rs150400022
|
0.00262
|
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu)
|
rs112114400
|
0.00262
|
NM_198525.3(KIF7):c.2192-13C>T
|
rs201251064
|
0.00262
|
NM_001206927.2(DNAH8):c.8724G>A (p.Glu2908=)
|
rs149787191
|
0.00261
|
NM_030578.4(B9D2):c.195C>T (p.Phe65=)
|
rs34088631
|
0.00261
|
NM_198525.3(KIF7):c.3111+9C>A
|
rs147996726
|
0.00261
|
NM_015512.5(DNAH1):c.6819G>A (p.Leu2273=)
|
rs79760452
|
0.00260
|
NM_001277115.2(DNAH11):c.555A>G (p.Ser185=)
|
rs143304361
|
0.00259
|
NM_015512.5(DNAH1):c.9807C>T (p.Asn3269=)
|
rs199553284
|
0.00259
|
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val)
|
rs201715229
|
0.00258
|
NM_152618.3(BBS12):c.1287T>C (p.Ser429=)
|
rs17006094
|
0.00258
|
NM_001206927.2(DNAH8):c.8473+18G>A
|
rs115168718
|
0.00257
|
NM_001206927.2(DNAH8):c.11853A>G (p.Thr3951=)
|
rs115871283
|
0.00255
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
NM_015512.5(DNAH1):c.11259+17A>G
|
rs200820298
|
0.00255
|
NM_015512.5(DNAH1):c.2871+18G>T
|
rs76451298
|
0.00255
|
NM_017802.4(DNAAF5):c.2564A>G (p.Gln855Arg)
|
rs78491700
|
0.00255
|
NM_001369.3(DNAH5):c.7752+10T>C
|
rs149460805
|
0.00253
|
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu)
|
rs147791304
|
0.00253
|
NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=)
|
rs138639741
|
0.00252
|
NM_020779.4(WDR35):c.2964+12C>T
|
rs113663112
|
0.00252
|
NM_145038.5(DRC1):c.2166+16_2166+17insA
|
rs546596010
|
0.00252
|
NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln)
|
rs148328402
|
0.00251
|
NM_001369.3(DNAH5):c.8805G>C (p.Met2935Ile)
|
rs77874614
|
0.00250
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val)
|
rs34920399
|
0.00249
|
NM_025132.4(WDR19):c.3183+9G>A
|
rs138318063
|
0.00248
|
NM_018076.5(ODAD2):c.205G>C (p.Glu69Gln)
|
rs61729351
|
0.00246
|
NM_025132.4(WDR19):c.2142+12G>A
|
rs149621476
|
0.00246
|
NM_001190787.3(MCIDAS):c.828T>C (p.Asp276=)
|
rs188932912
|
0.00245
|
NM_001378454.1(ALMS1):c.2730C>T (p.His910=)
|
rs189923349
|
0.00245
|
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)
|
rs201446579
|
0.00245
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
NM_015512.5(DNAH1):c.4266+20T>C
|
rs137910956
|
0.00245
|
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)
|
rs201709592
|
0.00245
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser)
|
rs17849504
|
0.00244
|
NM_019892.6(INPP5E):c.572C>G (p.Pro191Arg)
|
rs61734181
|
0.00243
|
NM_033028.5(BBS4):c.332+27dup
|
rs558055315
|
0.00243
|
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys)
|
rs182389910
|
0.00242
|
NM_001382391.1(CSPP1):c.3109+18C>T
|
rs139599638
|
0.00242
|
NM_198428.3(BBS9):c.2632+9C>A
|
rs148654647
|
0.00242
|
NM_001206927.2(DNAH8):c.12969G>A (p.Thr4323=)
|
rs114095356
|
0.00241
|
NM_014714.4(IFT140):c.1524+14C>G
|
rs369481491
|
0.00241
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_001277115.2(DNAH11):c.3001-7C>T
|
rs369466371
|
0.00239
|
NM_015662.3(IFT172):c.3357C>T (p.His1119=)
|
rs76787560
|
0.00238
|
NM_019892.6(INPP5E):c.813-5C>G
|
rs186462782
|
0.00238
|
NM_181426.2(CCDC39):c.2299T>C (p.Leu767=)
|
rs200913298
|
0.00238
|
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg)
|
rs137995818
|
0.00236
|
NM_024809.5(TCTN2):c.720C>G (p.Pro240=)
|
rs149430216
|
0.00236
|
NM_001206927.2(DNAH8):c.9740+11T>C
|
rs183793272
|
0.00235
|
NM_001206927.2(DNAH8):c.9987C>T (p.Ser3329=)
|
rs150857304
|
0.00235
|
NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=)
|
rs79955190
|
0.00235
|
NM_001277115.2(DNAH11):c.4282A>G (p.Thr1428Ala)
|
rs72657315
|
0.00235
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)
|
rs139441507
|
0.00235
|
NM_016616.5(NME8):c.1545-11G>A
|
rs180830403
|
0.00234
|
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)
|
rs148242353
|
0.00233
|
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=)
|
rs147804813
|
0.00233
|
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=)
|
rs10112748
|
0.00231
|
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala)
|
rs72657320
|
0.00229
|
NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln)
|
rs116823950
|
0.00229
|
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)
|
rs139640247
|
0.00228
|
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu)
|
rs148239437
|
0.00227
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
NM_001277115.2(DNAH11):c.9598-16G>A
|
rs183862333
|
0.00226
|
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=)
|
rs79329972
|
0.00226
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
NM_018076.5(ODAD2):c.27G>A (p.Thr9=)
|
rs139724964
|
0.00224
|
NM_024809.5(TCTN2):c.-2G>A
|
rs141768405
|
0.00224
|
NM_001010892.3(RSPH4A):c.1917-4A>G
|
rs201826366
|
0.00223
|
NM_001206927.2(DNAH8):c.6966A>T (p.Pro2322=)
|
rs149125241
|
0.00223
|
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser)
|
rs202079418
|
0.00223
|
NM_015512.5(DNAH1):c.334-12G>A
|
rs144102868
|
0.00222
|
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly)
|
rs150649460
|
0.00222
|
NM_015512.5(DNAH1):c.1287G>A (p.Ser429=)
|
rs202217531
|
0.00221
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_001277115.2(DNAH11):c.7765G>A (p.Val2589Ile)
|
rs145239537
|
0.00220
|
NM_014714.4(IFT140):c.3874-11C>T
|
rs199887622
|
0.00220
|
NM_147127.5(EVC2):c.2151C>T (p.His717=)
|
rs144584049
|
0.00220
|
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)
|
rs150399299
|
0.00219
|
NM_001199397.3(NEK1):c.975A>G (p.Gly325=)
|
rs150904906
|
0.00218
|
NM_015512.5(DNAH1):c.4365C>T (p.Ala1455=)
|
rs185313035
|
0.00218
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_001277115.2(DNAH11):c.8797+20T>G
|
rs16872911
|
0.00217
|
NM_020800.3(IFT80):c.777+20A>G
|
rs192387448
|
0.00217
|
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)
|
rs200161705
|
0.00216
|
NM_015512.5(DNAH1):c.7143C>G (p.Ile2381Met)
|
rs144580984
|
0.00215
|
NM_015512.5(DNAH1):c.8765C>T (p.Ala2922Val)
|
rs182141515
|
0.00214
|
NM_001044385.3(TMEM237):c.554-15G>A
|
rs144051344
|
0.00213
|
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=)
|
rs72657400
|
0.00213
|
NM_018051.5(DYNC2I1):c.1465C>G (p.Arg489Gly)
|
rs116193143
|
0.00213
|
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)
|
rs180787556
|
0.00212
|
NM_015512.5(DNAH1):c.10416C>T (p.Tyr3472=)
|
rs147839489
|
0.00212
|
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)
|
rs77570029
|
0.00211
|
NM_001044385.3(TMEM237):c.396-14C>T
|
rs74411816
|
0.00210
|
NM_001206927.2(DNAH8):c.13214+10T>C
|
rs112998568
|
0.00210
|
NM_001377.3(DYNC2H1):c.6909C>T (p.Tyr2303=)
|
rs191012679
|
0.00210
|
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=)
|
rs144421639
|
0.00210
|
NM_017802.4(DNAAF5):c.1432G>A (p.Glu478Lys)
|
rs118139460
|
0.00208
|
NM_147127.5(EVC2):c.18C>T (p.Ser6=)
|
rs556910528
|
0.00207
|
NM_001277115.2(DNAH11):c.12196-12C>G
|
rs111541378
|
0.00206
|
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu)
|
rs76690956
|
0.00205
|
NM_018076.5(ODAD2):c.2342G>T (p.Gly781Val)
|
rs145619075
|
0.00205
|
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)
|
rs115299472
|
0.00205
|
NM_030578.4(B9D2):c.88+6C>T
|
rs112498529
|
0.00205
|
NM_147127.5(EVC2):c.2883A>C (p.Gly961=)
|
rs149188988
|
0.00205
|
NM_153717.3(EVC):c.939+9C>T
|
rs201282320
|
0.00205
|
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val)
|
rs144456198
|
0.00204
|
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)
|
rs201074268
|
0.00204
|
NM_031427.4(DNAL1):c.4-15T>C
|
rs185924269
|
0.00204
|
NM_017950.4(CCDC40):c.1275C>T (p.Ala425=)
|
rs145013523
|
0.00203
|
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
|
rs138410949
|
0.00203
|
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln)
|
rs140565291
|
0.00202
|
NM_014956.5(CEP164):c.2772C>G (p.Leu924=)
|
rs117473319
|
0.00201
|
NM_016616.5(NME8):c.126C>T (p.Cys42=)
|
rs138311368
|
0.00201
|
NM_020779.4(WDR35):c.1524+11C>A
|
rs200213874
|
0.00201
|
NM_003611.3(OFD1):c.517+20T>C
|
rs139112266
|
0.00200
|
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)
|
rs191736683
|
0.00200
|
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg)
|
rs200815406
|
0.00200
|
NM_025114.4(CEP290):c.251-11T>A
|
rs200666995
|
0.00198
|
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
NM_001329943.3(KIAA0586):c.4496-16C>T
|
rs111487478
|
0.00195
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
NM_018076.5(ODAD2):c.2496-12G>T
|
rs182886953
|
0.00195
|
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg)
|
rs114568905
|
0.00194
|
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)
|
rs142381345
|
0.00194
|
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser)
|
rs143947747
|
0.00194
|
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)
|
rs150553044
|
0.00194
|
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=)
|
rs371410128
|
0.00193
|
NM_176824.3(BBS7):c.*250T>G
|
rs80171619
|
0.00193
|
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)
|
rs559008223
|
0.00192
|
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00191
|
NM_014704.4(CEP104):c.1169A>G (p.His390Arg)
|
rs145728798
|
0.00191
|
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=)
|
rs149837444
|
0.00190
|
NM_015512.5(DNAH1):c.5669G>T (p.Gly1890Val)
|
rs200859252
|
0.00190
|
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly)
|
rs149325238
|
0.00190
|
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn)
|
rs140386513
|
0.00190
|
NM_001277115.2(DNAH11):c.3870G>C (p.Glu1290Asp)
|
rs200954442
|
0.00189
|
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=)
|
rs117995360
|
0.00189
|
NM_018051.5(DYNC2I1):c.1922-16T>C
|
rs141233540
|
0.00189
|
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=)
|
rs184804243
|
0.00188
|
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser)
|
rs72655967
|
0.00188
|
NM_001377.3(DYNC2H1):c.10314A>G (p.Glu3438=)
|
rs369838929
|
0.00188
|
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=)
|
rs138025088
|
0.00188
|
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe)
|
rs149667250
|
0.00188
|
NM_024809.5(TCTN2):c.1985-12A>G
|
rs78123598
|
0.00188
|
NM_024809.5(TCTN2):c.654C>T (p.Leu218=)
|
rs138897437
|
0.00188
|
NM_152384.3(BBS5):c.750C>T (p.Ile250=)
|
rs76138485
|
0.00188
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=)
|
rs36069919
|
0.00187
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
0.00187
|
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly)
|
rs143954823
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
|
rs143191074
|
0.00187
|
NM_018718.3(CEP41):c.*655C>T
|
rs141441037
|
0.00185
|
NM_018718.3(CEP41):c.575-12T>C
|
rs186638258
|
0.00185
|
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)
|
rs193056942
|
0.00184
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
NM_003611.3(OFD1):c.1654+8A>G
|
rs200767363
|
0.00184
|
NM_080860.4(RSPH1):c.501+7C>T
|
rs201034280
|
0.00184
|
NM_001277115.2(DNAH11):c.11840-20C>T
|
rs146222137
|
0.00183
|
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg)
|
rs141389465
|
0.00183
|
NM_017950.4(CCDC40):c.180G>A (p.Ala60=)
|
rs185006459
|
0.00183
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
NM_018051.5(DYNC2I1):c.1370C>A (p.Ser457Tyr)
|
rs144444098
|
0.00182
|
NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu)
|
rs142031266
|
0.00181
|
NM_018076.5(ODAD2):c.2982C>T (p.Ala994=)
|
rs148295264
|
0.00181
|
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
|
rs147372600
|
0.00180
|
NM_001377.3(DYNC2H1):c.1953+14T>C
|
rs186540831
|
0.00180
|
NM_017802.4(DNAAF5):c.1245C>T (p.Ala415=)
|
rs146922072
|
0.00180
|
NM_001369.3(DNAH5):c.3363T>G (p.Ser1121=)
|
rs58266192
|
0.00179
|
NM_024753.5(TTC21B):c.262+16G>A
|
rs192525886
|
0.00179
|
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val)
|
rs145973397
|
0.00178
|
NM_145038.5(DRC1):c.1692C>T (p.Ile564=)
|
rs150385105
|
0.00177
|
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=)
|
rs144748846
|
0.00176
|
NM_001206927.2(DNAH8):c.270G>C (p.Pro90=)
|
rs180723141
|
0.00175
|
NM_012144.4(DNAI1):c.81+5del
|
rs200411544
|
0.00175
|
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=)
|
rs201008264
|
0.00173
|
NM_014704.4(CEP104):c.588G>A (p.Pro196=)
|
rs141751043
|
0.00173
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
NM_001377.3(DYNC2H1):c.6478-17C>T
|
rs61899765
|
0.00172
|
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr)
|
rs72657309
|
0.00171
|
NM_001364171.2(ODAD1):c.1481C>T (p.Pro494Leu)
|
rs148823991
|
0.00171
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_001206927.2(DNAH8):c.9513+15T>G
|
rs147204268
|
0.00170
|
NM_001375405.1(CEP120):c.2358+20A>G
|
rs139462181
|
0.00170
|
NM_178452.6(DNAAF1):c.1644+14T>C
|
rs185394395
|
0.00170
|
NM_001206927.2(DNAH8):c.11776T>C (p.Leu3926=)
|
rs148084212
|
0.00168
|
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)
|
rs142372794
|
0.00168
|
NM_001377.3(DYNC2H1):c.6894-4G>A
|
rs17100043
|
0.00168
|
NM_001378615.1(CC2D2A):c.2487-11C>G
|
rs374783761
|
0.00168
|
NM_017802.4(DNAAF5):c.711T>C (p.Phe237=)
|
rs543710960
|
0.00168
|
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)
|
rs148387367
|
0.00167
|
NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val)
|
rs150631721
|
0.00166
|
NM_001364171.2(ODAD1):c.1581+17C>T
|
rs182750626
|
0.00166
|
NM_031885.5(BBS2):c.1081-18G>T
|
rs142558653
|
0.00166
|
NM_001206927.2(DNAH8):c.11817-7G>A
|
rs139673856
|
0.00165
|
NM_001206927.2(DNAH8):c.11895T>C (p.Ser3965=)
|
rs151015092
|
0.00165
|
NM_024809.5(TCTN2):c.360C>G (p.Leu120=)
|
rs142452647
|
0.00165
|
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)
|
rs200133722
|
0.00165
|
NM_147127.5(EVC2):c.2487G>A (p.Glu829=)
|
rs16837501
|
0.00165
|
NM_001206927.2(DNAH8):c.11580C>T (p.Asp3860=)
|
rs149356438
|
0.00164
|
NM_001377.3(DYNC2H1):c.1661+16T>C
|
rs187129481
|
0.00164
|
NM_006642.5(SDCCAG8):c.929+18C>T
|
rs200895248
|
0.00164
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_001134831.2(AHI1):c.2490G>A (p.Arg830=)
|
rs368942099
|
0.00163
|
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=)
|
rs80009262
|
0.00162
|
NM_147127.5(EVC2):c.1471-6C>T
|
rs115466792
|
0.00162
|
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr)
|
rs141343307
|
0.00161
|
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)
|
rs148436608
|
0.00161
|
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn)
|
rs117932646
|
0.00161
|
NM_033124.5(CCDC65):c.1027-11G>A
|
rs182441696
|
0.00161
|
NM_213607.3(CCDC103):c.627G>A (p.Glu209=)
|
rs200474997
|
0.00161
|
NM_001206927.2(DNAH8):c.2709G>A (p.Ser903=)
|
rs140047863
|
0.00160
|
NM_001369.3(DNAH5):c.1321-15T>C
|
rs202081804
|
0.00160
|
NM_014714.4(IFT140):c.4040+15C>G
|
rs373703197
|
0.00160
|
NM_015910.7(WDPCP):c.499+20A>G
|
rs186575824
|
0.00159
|
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser)
|
rs142022233
|
0.00158
|
NM_001377.3(DYNC2H1):c.12366+8A>G
|
rs200404815
|
0.00156
|
NM_012144.4(DNAI1):c.1902C>T (p.His634=)
|
rs139197229
|
0.00156
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_020800.3(IFT80):c.897G>A (p.Val299=)
|
rs145776235
|
0.00156
|
NM_152618.3(BBS12):c.105A>T (p.Ser35=)
|
rs35159397
|
0.00156
|
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly)
|
rs61733577
|
0.00156
|
NM_017950.4(CCDC40):c.1440+16G>A
|
rs192026179
|
0.00155
|
NM_030578.4(B9D2):c.183C>T (p.Ile61=)
|
rs140901774
|
0.00155
|
NM_001206927.2(DNAH8):c.11700C>T (p.Pro3900=)
|
rs142515873
|
0.00154
|
NM_001277115.2(DNAH11):c.3933A>G (p.Pro1311=)
|
rs138071140
|
0.00153
|
NM_001369.3(DNAH5):c.6529G>C (p.Glu2177Gln)
|
rs116069486
|
0.00153
|
NM_001206927.2(DNAH8):c.10591C>T (p.Leu3531=)
|
rs150730516
|
0.00152
|
NM_018051.5(DYNC2I1):c.2397C>T (p.Ile799=)
|
rs116197118
|
0.00152
|
NM_198525.3(KIF7):c.2718+19C>T
|
rs200126841
|
0.00152
|
NM_001277115.2(DNAH11):c.10350C>G (p.Thr3450=)
|
rs200603138
|
0.00151
|
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)
|
rs140830294
|
0.00151
|
NM_001378454.1(ALMS1):c.10079-11C>T
|
rs368250605
|
0.00151
|
NM_015512.5(DNAH1):c.5334G>A (p.Glu1778=)
|
rs61729400
|
0.00151
|
NM_017950.4(CCDC40):c.856-18G>A
|
rs189118723
|
0.00151
|
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val)
|
rs201323940
|
0.00150
|
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)
|
rs116952023
|
0.00150
|
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)
|
rs138196132
|
0.00150
|
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg)
|
rs183521702
|
0.00149
|
NM_001364171.2(ODAD1):c.582C>T (p.Asp194=)
|
rs190978775
|
0.00149
|
NM_145038.5(DRC1):c.2223A>C (p.Ter741Cys)
|
rs151184011
|
0.00149
|
NM_147127.5(EVC2):c.2394G>A (p.Arg798=)
|
rs147173201
|
0.00149
|
NM_147127.5(EVC2):c.2395G>C (p.Asp799His)
|
rs143491078
|
0.00149
|
NM_001134831.2(AHI1):c.72T>C (p.Ser24=)
|
rs73777558
|
0.00147
|
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile)
|
rs139067427
|
0.00146
|
NM_018051.5(DYNC2I1):c.2826G>C (p.Ala942=)
|
rs140787294
|
0.00146
|
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)
|
rs144532809
|
0.00146
|
NM_001206927.2(DNAH8):c.13372-15T>A
|
rs201333384
|
0.00145
|
NM_153704.6(TMEM67):c.186T>C (p.Cys62=)
|
rs115660279
|
0.00145
|
NM_001010892.3(RSPH4A):c.1080G>C (p.Leu360Phe)
|
rs111375012
|
0.00144
|
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)
|
rs149118721
|
0.00144
|
NM_015896.4(ZMYND10):c.873+4A>T
|
rs185474627
|
0.00144
|
NM_033124.5(CCDC65):c.1180-8A>C
|
rs192209412
|
0.00144
|
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)
|
rs147485641
|
0.00143
|
NM_001206927.2(DNAH8):c.12678+13A>G
|
rs181156919
|
0.00142
|
NM_014704.4(CEP104):c.1340C>T (p.Thr447Met)
|
rs138897239
|
0.00142
|
NM_001010892.3(RSPH4A):c.1662+15C>T
|
rs183372450
|
0.00141
|
NM_003114.5(SPAG1):c.825C>T (p.Asn275=)
|
rs150007121
|
0.00141
|
NM_001206927.2(DNAH8):c.10818G>A (p.Thr3606=)
|
rs79890174
|
0.00140
|
NM_001277115.2(DNAH11):c.6067A>G (p.Ile2023Val)
|
rs72657339
|
0.00140
|
NM_001277115.2(DNAH11):c.8151C>T (p.Phe2717=)
|
rs111301826
|
0.00140
|
NM_001375405.1(CEP120):c.810+7A>G
|
rs376913078
|
0.00140
|
NM_033124.5(CCDC65):c.132+11T>C
|
rs201804778
|
0.00140
|
NM_033124.5(CCDC65):c.666G>A (p.Leu222=)
|
rs148437989
|
0.00140
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_021147.5(CCNO):c.354G>A (p.Pro118=)
|
rs368155527
|
0.00139
|
NM_018076.5(ODAD2):c.1654A>C (p.Lys552Gln)
|
rs138205369
|
0.00137
|
NM_001206927.2(DNAH8):c.10290A>G (p.Ser3430=)
|
rs140024206
|
0.00136
|
NM_001206927.2(DNAH8):c.2915A>T (p.Glu972Val)
|
rs139961713
|
0.00135
|
NM_001206927.2(DNAH8):c.7620+16del
|
rs573849239
|
0.00135
|
NM_015662.3(IFT172):c.4755+9G>C
|
rs375261962
|
0.00135
|
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)
|
rs151164191
|
0.00134
|
NM_016616.5(NME8):c.-3T>C
|
rs184571218
|
0.00133
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_145038.5(DRC1):c.1851C>G (p.Pro617=)
|
rs200824609
|
0.00133
|
NM_001369.3(DNAH5):c.6039A>C (p.Arg2013=)
|
rs112102932
|
0.00132
|
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser)
|
rs200161440
|
0.00131
|
NM_003611.3(OFD1):c.1654+14T>A
|
rs192720874
|
0.00131
|
NM_024685.4(BBS10):c.1245T>C (p.His415=)
|
rs147241753
|
0.00130
|
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His)
|
rs201261243
|
0.00129
|
NM_014714.4(IFT140):c.2067+12C>T
|
rs201954701
|
0.00129
|
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=)
|
rs140107312
|
0.00129
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=)
|
rs148016417
|
0.00128
|
NM_001369.3(DNAH5):c.7065T>C (p.Asp2355=)
|
rs149045168
|
0.00128
|
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=)
|
rs201310509
|
0.00128
|
NM_001481.3(GAS8):c.3+13G>A
|
rs747039502
|
0.00128
|
NM_018076.5(ODAD2):c.883G>C (p.Val295Leu)
|
rs143215183
|
0.00128
|
NM_019892.6(INPP5E):c.1875G>A (p.Glu625=)
|
rs148539728
|
0.00128
|
NM_020800.3(IFT80):c.550-18T>C
|
rs150600821
|
0.00128
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
NM_001190787.3(MCIDAS):c.821G>A (p.Gly274Glu)
|
rs181843638
|
0.00127
|
NM_001277115.2(DNAH11):c.10165+7C>T
|
rs76424325
|
0.00127
|
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln)
|
rs61744047
|
0.00127
|
NM_001369.3(DNAH5):c.5944G>A (p.Ala1982Thr)
|
rs150814892
|
0.00127
|
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)
|
rs142977481
|
0.00126
|
NM_080860.4(RSPH1):c.711C>T (p.Asp237=)
|
rs75626002
|
0.00126
|
NM_001382391.1(CSPP1):c.1245+15C>T
|
rs200874913
|
0.00125
|
NM_014714.4(IFT140):c.1359+12G>C
|
rs150859038
|
0.00125
|
NM_019892.6(INPP5E):c.120C>T (p.Pro40=)
|
rs377154166
|
0.00125
|
NM_001369.3(DNAH5):c.1476G>A (p.Thr492=)
|
rs150994380
|
0.00124
|
NM_020779.4(WDR35):c.1755C>T (p.Val585=)
|
rs146130105
|
0.00124
|
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)
|
rs61740537
|
0.00123
|
NM_018051.5(DYNC2I1):c.2793C>T (p.Asp931=)
|
rs199624775
|
0.00123
|
NM_001277115.2(DNAH11):c.6181-12T>C
|
rs201203384
|
0.00122
|
NM_001369.3(DNAH5):c.7753-9C>G
|
rs377367981
|
0.00122
|
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)
|
rs147831309
|
0.00121
|
NM_020779.4(WDR35):c.*2623T>C
|
rs538967974
|
0.00121
|
NM_023036.6(DNAI2):c.598A>C (p.Ile200Leu)
|
rs144786630
|
0.00121
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_173494.2(DNAAF6):c.244G>A (p.Glu82Lys)
|
rs147979953
|
0.00121
|
NM_198525.3(KIF7):c.3738C>G (p.Pro1246=)
|
rs144929293
|
0.00121
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00120
|
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)
|
rs186264635
|
0.00120
|
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=)
|
rs145877279
|
0.00120
|
NM_014714.4(IFT140):c.546C>T (p.Asp182=)
|
rs150014480
|
0.00120
|
NM_016616.5(NME8):c.1077A>G (p.Gln359=)
|
rs142516478
|
0.00120
|
NM_033124.5(CCDC65):c.301-14T>C
|
rs114216003
|
0.00120
|
NM_001206927.2(DNAH8):c.11997T>C (p.Ala3999=)
|
rs148812133
|
0.00119
|
NM_001277115.2(DNAH11):c.4255-7C>G
|
rs72657314
|
0.00119
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
NM_181426.2(CCDC39):c.2409T>C (p.Cys803=)
|
rs201601768
|
0.00119
|
NM_001206927.2(DNAH8):c.1765-18A>C
|
rs189204270
|
0.00118
|
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)
|
rs3756672
|
0.00118
|
NM_001369.3(DNAH5):c.8862G>T (p.Leu2954=)
|
rs145381989
|
0.00118
|
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His)
|
rs74957591
|
0.00118
|
NM_015512.5(DNAH1):c.11043A>G (p.Thr3681=)
|
rs200622578
|
0.00118
|
NM_017802.4(DNAAF5):c.2361C>T (p.Val787=)
|
rs140641290
|
0.00118
|
NM_033028.5(BBS4):c.208A>G (p.Ile70Val)
|
rs142692981
|
0.00118
|
NM_080860.4(RSPH1):c.727+19del
|
rs144909525
|
0.00118
|
NM_178452.6(DNAAF1):c.1031-5A>T
|
rs79772571
|
0.00118
|
NM_017777.4(MKS1):c.261+7C>T
|
rs200156751
|
0.00117
|
NM_019892.6(INPP5E):c.1550-14C>T
|
rs181576122
|
0.00117
|
NM_052844.4(DYNC2I2):c.1008C>T (p.Gly336=)
|
rs146077746
|
0.00117
|
NM_001369.3(DNAH5):c.7752+7C>G
|
rs143848918
|
0.00116
|
NM_012472.6(DNAAF11):c.1343T>C (p.Ile448Thr)
|
rs78620801
|
0.00116
|
NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe)
|
rs138588942
|
0.00116
|
NM_020779.4(WDR35):c.*2622A>G
|
rs558837510
|
0.00116
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
NM_012472.6(DNAAF11):c.1293A>C (p.Ile431=)
|
rs139369647
|
0.00115
|
NM_080860.4(RSPH1):c.501+14A>G
|
rs368082841
|
0.00115
|
NM_001369.3(DNAH5):c.2355C>T (p.Leu785=)
|
rs112238091
|
0.00114
|
NM_014704.4(CEP104):c.2736C>T (p.Gly912=)
|
rs148360595
|
0.00114
|
NM_001044385.3(TMEM237):c.*564T>C
|
rs141560423
|
0.00113
|
NM_001277115.2(DNAH11):c.7267-5C>G
|
rs370674737
|
0.00113
|
NM_001377.3(DYNC2H1):c.12566+17A>G
|
rs187787132
|
0.00113
|
NM_017950.4(CCDC40):c.648C>T (p.Asp216=)
|
rs375350606
|
0.00113
|
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)
|
rs150384293
|
0.00113
|
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)
|
rs112124692
|
0.00112
|
NM_001375405.1(CEP120):c.1764-6T>C
|
rs376358503
|
0.00112
|
NM_001375405.1(CEP120):c.2358+14C>T
|
rs114558677
|
0.00112
|
NM_018139.3(DNAAF2):c.1459C>T (p.Arg487Cys)
|
rs141192321
|
0.00112
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001384732.1(CPLANE1):c.8374-15G>A
|
rs74881219
|
0.00111
|
NM_024753.5(TTC21B):c.588T>G (p.Gly196=)
|
rs144458105
|
0.00111
|
NM_031885.3(BBS2):c.-225C>T
|
rs117744577
|
0.00111
|
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=)
|
rs185794149
|
0.00110
|
NM_001277115.2(DNAH11):c.12370T>G (p.Leu4124Val)
|
rs151156028
|
0.00109
|
NM_001369.3(DNAH5):c.1251C>T (p.Thr417=)
|
rs112911055
|
0.00109
|
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met)
|
rs202189990
|
0.00109
|
NM_015631.6(TCTN3):c.1591-5C>T
|
rs181107730
|
0.00109
|
NM_001134831.2(AHI1):c.2492+14A>G
|
rs182161546
|
0.00108
|
NM_001277115.2(DNAH11):c.8279A>G (p.Gln2760Arg)
|
rs72657366
|
0.00108
|
NM_001375405.1(CEP120):c.1039-19A>G
|
rs188996721
|
0.00108
|
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=)
|
rs138861857
|
0.00108
|
NM_015512.5(DNAH1):c.1554C>T (p.Ala518=)
|
rs201113513
|
0.00108
|
NM_015512.5(DNAH1):c.2724T>C (p.Asn908=)
|
rs201003363
|
0.00108
|
NM_018076.5(ODAD2):c.2983G>A (p.Asp995Asn)
|
rs149981194
|
0.00108
|
NM_198525.3(KIF7):c.2718+20G>A
|
rs183149392
|
0.00108
|
NM_014704.4(CEP104):c.2124A>G (p.Ala708=)
|
rs139817583
|
0.00107
|
NM_015512.5(DNAH1):c.6435A>G (p.Pro2145=)
|
rs372202417
|
0.00107
|
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)
|
rs372349042
|
0.00107
|
NM_001369.3(DNAH5):c.1644+12A>G
|
rs201116549
|
0.00106
|
NM_014704.4(CEP104):c.2255+10G>A
|
rs140847871
|
0.00106
|
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)
|
rs181248369
|
0.00106
|
NM_033124.5(CCDC65):c.375C>T (p.Asp125=)
|
rs143088014
|
0.00106
|
NM_001102564.3(IFT43):c.54+15G>T
|
rs372505367
|
0.00105
|
NM_001329943.3(KIAA0586):c.1130-16A>C
|
rs187748315
|
0.00105
|
NM_001364171.2(ODAD1):c.1425C>T (p.Asp475=)
|
rs150259992
|
0.00105
|
NM_147127.5(EVC2):c.2707-13A>T
|
rs146588799
|
0.00105
|
NM_001206927.2(DNAH8):c.8088A>G (p.Leu2696=)
|
rs59600851
|
0.00104
|
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe)
|
rs188638970
|
0.00103
|
NM_003114.5(SPAG1):c.833-20T>C
|
rs187175886
|
0.00103
|
NM_015512.5(DNAH1):c.5182A>T (p.Ser1728Cys)
|
rs138320093
|
0.00103
|
NM_001190787.3(MCIDAS):c.93C>G (p.Leu31=)
|
rs577029897
|
0.00102
|
NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=)
|
rs368824340
|
0.00102
|
NM_001377.3(DYNC2H1):c.3744+9C>T
|
rs142483417
|
0.00101
|
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly)
|
rs201316149
|
0.00101
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
NM_015662.3(IFT172):c.2443-19A>G
|
rs199907803
|
0.00101
|
NM_017802.4(DNAAF5):c.888C>T (p.Asp296=)
|
rs137860295
|
0.00101
|
NM_001369.3(DNAH5):c.2578-9T>G
|
rs1466288520
|
0.00100
|
NM_017950.4(CCDC40):c.850G>C (p.Asp284His)
|
rs201042940
|
0.00099
|
NM_025132.4(WDR19):c.2715G>A (p.Lys905=)
|
rs200339331
|
0.00099
|
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)
|
rs184324310
|
0.00098
|
NM_001329943.3(KIAA0586):c.200-14C>A
|
rs373882617
|
0.00098
|
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=)
|
rs61738360
|
0.00098
|
NM_020779.4(WDR35):c.1471-7A>G
|
rs376388391
|
0.00098
|
NM_020779.4(WDR35):c.437-13T>C
|
rs367802842
|
0.00098
|
NM_018139.3(DNAAF2):c.2187A>G (p.Gln729=)
|
rs147110554
|
0.00097
|
NM_001329943.3(KIAA0586):c.340+15T>C
|
rs139305633
|
0.00096
|
NM_014956.5(CEP164):c.1484C>G (p.Pro495Arg)
|
rs59763167
|
0.00096
|
NM_018139.3(DNAAF2):c.1077C>G (p.Val359=)
|
rs765764624
|
0.00096
|
NM_020779.4(WDR35):c.142+10T>C
|
rs186647997
|
0.00096
|
NM_024753.5(TTC21B):c.3874-14T>C
|
rs200347449
|
0.00096
|
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)
|
rs150395094
|
0.00096
|
NM_025132.4(WDR19):c.1135-18C>G
|
rs187658795
|
0.00095
|
NM_020779.4(WDR35):c.507A>G (p.Lys169=)
|
rs200495720
|
0.00094
|
NM_001378454.1(ALMS1):c.8546G>A (p.Arg2849Lys)
|
rs200009686
|
0.00093
|
NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro)
|
rs141605537
|
0.00093
|
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp)
|
rs115536785
|
0.00093
|
NM_015896.4(ZMYND10):c.873+15G>A
|
rs181274355
|
0.00093
|
NM_018076.5(ODAD2):c.1534-19C>G
|
rs375614529
|
0.00093
|
NM_024685.4(BBS10):c.1545T>C (p.Asp515=)
|
rs77565309
|
0.00093
|
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)
|
rs143678893
|
0.00093
|
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn)
|
rs142345677
|
0.00093
|
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys)
|
rs182808328
|
0.00092
|
NM_001369.3(DNAH5):c.5484+20A>C
|
rs376520355
|
0.00092
|
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu)
|
rs147470752
|
0.00092
|
NM_001377.3(DYNC2H1):c.4812C>T (p.Ile1604=)
|
rs370677208
|
0.00091
|
NM_001377.3(DYNC2H1):c.6159C>T (p.Ile2053=)
|
rs373665655
|
0.00091
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
NM_001364171.2(ODAD1):c.808G>A (p.Asp270Asn)
|
rs145629439
|
0.00090
|
NM_001377.3(DYNC2H1):c.5439G>A (p.Arg1813=)
|
rs371039240
|
0.00090
|
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)
|
rs146588335
|
0.00090
|
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=)
|
rs199628375
|
0.00089
|
NM_001377.3(DYNC2H1):c.3384C>A (p.Ala1128=)
|
rs199935024
|
0.00089
|
NM_001377.3(DYNC2H1):c.5559-6T>C
|
rs369043863
|
0.00089
|
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)
|
rs144493712
|
0.00089
|
NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala)
|
rs80237479
|
0.00088
|
NM_052844.4(DYNC2I2):c.1116G>A (p.Thr372=)
|
rs138690108
|
0.00088
|
NM_000328.3(RPGR):c.2324T>C (p.Ile775Thr)
|
rs145289281
|
0.00087
|
NM_001364171.2(ODAD1):c.1866C>T (p.His622=)
|
rs138562401
|
0.00087
|
NM_023036.6(DNAI2):c.754G>A (p.Val252Met)
|
rs140326154
|
0.00087
|
NM_001277115.2(DNAH11):c.352-9T>C
|
rs368962157
|
0.00086
|
NM_001377.3(DYNC2H1):c.1134+8A>G
|
rs138290301
|
0.00086
|
NM_012210.4(TRIM32):c.6T>G (p.Ala2=)
|
rs141352486
|
0.00086
|
NM_015512.5(DNAH1):c.7572T>C (p.Asp2524=)
|
rs368852045
|
0.00086
|
NM_153704.6(TMEM67):c.714+18A>T
|
rs140881754
|
0.00086
|
NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=)
|
rs190259474
|
0.00085
|
NM_016616.5(NME8):c.1317C>T (p.Thr439=)
|
rs144273423
|
0.00084
|
NM_001377.3(DYNC2H1):c.*211A>G
|
rs148091830
|
0.00083
|
NM_015512.5(DNAH1):c.11970C>T (p.Asp3990=)
|
rs376132414
|
0.00083
|
NM_015662.3(IFT172):c.402+8A>C
|
rs184565714
|
0.00083
|
NM_017950.4(CCDC40):c.3249C>T (p.Tyr1083=)
|
rs145998578
|
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_015512.5(DNAH1):c.1956-14G>A
|
rs181041944
|
0.00082
|
NM_018718.3(CEP41):c.*3856C>T
|
rs187532705
|
0.00082
|
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln)
|
rs61747551
|
0.00081
|
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=)
|
rs187451323
|
0.00081
|
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)
|
rs141993139
|
0.00081
|
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)
|
rs151241589
|
0.00081
|
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn)
|
rs117543061
|
0.00081
|
NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)
|
rs200673226
|
0.00080
|
NM_001378615.1(CC2D2A):c.1017+7G>A
|
rs137919504
|
0.00080
|
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=)
|
rs375131519
|
0.00080
|
NM_001382391.1(CSPP1):c.2539-12T>A
|
rs185726462
|
0.00080
|
NM_001382391.1(CSPP1):c.924-11G>A
|
rs149756527
|
0.00080
|
NM_080860.4(RSPH1):c.877+7T>A
|
rs116369489
|
0.00080
|
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)
|
rs144018942
|
0.00080
|
NM_001082538.3(TCTN1):c.341+11G>A
|
rs188296885
|
0.00079
|
NM_001364171.2(ODAD1):c.522G>A (p.Ala174=)
|
rs200360777
|
0.00079
|
NM_014714.4(IFT140):c.1788T>C (p.Asp596=)
|
rs148904634
|
0.00079
|
NM_017950.4(CCDC40):c.3021+12C>T
|
rs377169531
|
0.00079
|
NM_025132.4(WDR19):c.1198C>T (p.Leu400=)
|
rs199765304
|
0.00079
|
NM_025132.4(WDR19):c.2364-3del
|
rs757992911
|
0.00079
|
NM_031924.8(RSPH3):c.116+14C>T
|
rs140073925
|
0.00079
|
NM_153717.3(EVC):c.1770C>T (p.Asp590=)
|
rs141755737
|
0.00079
|
NM_001174150.2(ARL13B):c.689+19T>C
|
rs376881421
|
0.00078
|
NM_001277115.2(DNAH11):c.11967+14T>G
|
rs139663184
|
0.00078
|
NM_015512.5(DNAH1):c.1590C>T (p.His530=)
|
rs142935638
|
0.00078
|
NM_016616.5(NME8):c.271-3T>C
|
rs191137504
|
0.00078
|
NM_017950.4(CCDC40):c.1722C>A (p.Thr574=)
|
rs201559168
|
0.00078
|
NM_170784.3(MKKS):c.-618C>T
|
rs146473397
|
0.00078
|
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=)
|
rs375273015
|
0.00077
|
NM_001256715.2(DNAAF3):c.1124G>A (p.Cys375Tyr)
|
rs549436949
|
0.00077
|
NM_001364171.2(ODAD1):c.1650C>T (p.Asp550=)
|
rs74722451
|
0.00077
|
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val)
|
rs143185806
|
0.00077
|
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly)
|
rs17848880
|
0.00077
|
NM_001481.3(GAS8):c.407G>C (p.Ser136Thr)
|
rs148760410
|
0.00077
|
NM_014714.4(IFT140):c.1083C>T (p.Pro361=)
|
rs143014223
|
0.00077
|
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=)
|
rs141621142
|
0.00076
|
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=)
|
rs116854981
|
0.00076
|
NM_001382391.1(CSPP1):c.3470-20G>T
|
rs148896413
|
0.00076
|
NM_015512.5(DNAH1):c.7609-17C>T
|
rs202184724
|
0.00076
|
NM_015631.6(TCTN3):c.500-6T>C
|
rs201444392
|
0.00076
|
NM_015662.3(IFT172):c.5161-20G>A
|
rs372154058
|
0.00076
|
NM_017950.4(CCDC40):c.1806+8C>T
|
rs182104049
|
0.00076
|
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=)
|
rs78945041
|
0.00076
|
NM_018076.5(ODAD2):c.198A>C (p.Ser66=)
|
rs143338979
|
0.00076
|
NM_025114.4(CEP290):c.6646-16T>C
|
rs367543543
|
0.00076
|
NM_025132.4(WDR19):c.3261+12G>A
|
rs137960733
|
0.00076
|
NM_198428.3(BBS9):c.-429G>C
|
rs184271281
|
0.00076
|
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)
|
rs146752751
|
0.00076
|
NM_001206927.2(DNAH8):c.10179T>G (p.Leu3393=)
|
rs146031264
|
0.00074
|
NM_001277115.2(DNAH11):c.4202A>G (p.Gln1401Arg)
|
rs199629774
|
0.00074
|
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
|
rs148424288
|
0.00074
|
NM_001364171.2(ODAD1):c.1608G>A (p.Ala536=)
|
rs200022799
|
0.00073
|
NM_014714.4(IFT140):c.1667A>G (p.His556Arg)
|
rs137925718
|
0.00073
|
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)
|
rs200059077
|
0.00073
|
NM_024685.4(BBS10):c.*632T>C
|
rs78402495
|
0.00073
|
NM_017777.4(MKS1):c.749+13A>G
|
rs199550514
|
0.00072
|
NM_153704.6(TMEM67):c.2241+15A>G
|
rs201043898
|
0.00072
|
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg)
|
rs138838276
|
0.00072
|
NM_001206927.2(DNAH8):c.9348+5G>T
|
rs181549177
|
0.00071
|
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
|
rs149925563
|
0.00071
|
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=)
|
rs138157585
|
0.00070
|
NM_001369.3(DNAH5):c.8224+15G>A
|
rs148099176
|
0.00070
|
NM_014956.5(CEP164):c.194+20G>A
|
rs184566454
|
0.00070
|
NM_017802.4(DNAAF5):c.1707G>T (p.Arg569=)
|
rs180946359
|
0.00070
|
NM_170784.3(MKKS):c.-74G>A
|
rs113994194
|
0.00070
|
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)
|
rs148818431
|
0.00069
|
NM_017950.4(CCDC40):c.699T>C (p.Asp233=)
|
rs9893189
|
0.00069
|
NM_152618.3(BBS12):c.1207G>A (p.Val403Met)
|
rs78000298
|
0.00069
|
NM_001369.3(DNAH5):c.6445-20A>G
|
rs181135242
|
0.00068
|
NM_020779.4(WDR35):c.1401-15T>G
|
rs201903683
|
0.00068
|
NM_024809.5(TCTN2):c.888G>A (p.Pro296=)
|
rs116845100
|
0.00068
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
NM_015512.5(DNAH1):c.7020C>T (p.Val2340=)
|
rs200691263
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_001010892.3(RSPH4A):c.307G>T (p.Asp103Tyr)
|
rs139745647
|
0.00066
|
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr)
|
rs117896500
|
0.00066
|
NM_001199397.3(NEK1):c.618C>A (p.Gly206=)
|
rs373174833
|
0.00066
|
NM_001277115.2(DNAH11):c.2542G>A (p.Val848Met)
|
rs80328282
|
0.00066
|
NM_001364171.2(ODAD1):c.555C>T (p.Ile185=)
|
rs114554656
|
0.00066
|
NM_001375405.1(CEP120):c.1671G>A (p.Leu557=)
|
rs75289011
|
0.00066
|
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)
|
rs200491758
|
0.00066
|
NM_015512.5(DNAH1):c.12097C>A (p.Arg4033=)
|
rs371210477
|
0.00066
|
NM_015512.5(DNAH1):c.5418C>T (p.Ser1806=)
|
rs199597694
|
0.00066
|
NM_023036.6(DNAI2):c.1572G>A (p.Lys524=)
|
rs2279122
|
0.00066
|
NM_001369.3(DNAH5):c.2578-10T>G
|
rs756212532
|
0.00065
|
NM_017777.4(MKS1):c.1024+13C>G
|
rs374632643
|
0.00065
|
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)
|
rs75621037
|
0.00065
|
NM_001277115.2(DNAH11):c.1680T>A (p.Phe560Leu)
|
rs72655987
|
0.00064
|
NM_001369.3(DNAH5):c.3262+19T>C
|
rs557101898
|
0.00064
|
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val)
|
rs200208000
|
0.00064
|
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)
|
rs199827465
|
0.00063
|
NM_001377.3(DYNC2H1):c.7708+9A>G
|
rs375081757
|
0.00063
|
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=)
|
rs146244319
|
0.00063
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
NM_017950.4(CCDC40):c.51G>A (p.Ser17=)
|
rs141650385
|
0.00063
|
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)
|
rs147202164
|
0.00063
|
NM_001277115.2(DNAH11):c.12612G>T (p.Pro4204=)
|
rs73683005
|
0.00062
|
NM_025114.4(CEP290):c.3574-3C>G
|
rs781450470
|
0.00062
|
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg)
|
rs146362213
|
0.00061
|
NM_001329943.3(KIAA0586):c.1583+15G>A
|
rs201295491
|
0.00061
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
NM_001481.3(GAS8):c.816G>A (p.Val272=)
|
rs146751871
|
0.00061
|
NM_012472.6(DNAAF11):c.863C>A (p.Pro288His)
|
rs76147813
|
0.00061
|
NM_014714.4(IFT140):c.1084G>A (p.Gly362Arg)
|
rs182052267
|
0.00061
|
NM_014956.5(CEP164):c.2362-15C>T
|
rs201819583
|
0.00061
|
NM_015512.5(DNAH1):c.1986C>T (p.Asp662=)
|
rs376991251
|
0.00061
|
NM_015512.5(DNAH1):c.4571+18G>A
|
rs374606506
|
0.00061
|
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile)
|
rs143491198
|
0.00061
|
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu)
|
rs149980915
|
0.00061
|
NM_019892.6(INPP5E):c.813-8C>T
|
rs373176644
|
0.00061
|
NM_031885.5(BBS2):c.126T>G (p.Ile42Met)
|
rs139945733
|
0.00061
|
NM_015896.4(ZMYND10):c.480G>A (p.Gly160=)
|
rs138071787
|
0.00060
|
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn)
|
rs200609501
|
0.00060
|
NM_176824.3(BBS7):c.171G>A (p.Val57=)
|
rs144525608
|
0.00060
|
NM_001277115.2(DNAH11):c.10740C>G (p.Arg3580=)
|
rs114916492
|
0.00059
|
NM_144596.4(TTC8):c.330-15T>A
|
rs187484893
|
0.00059
|
NM_147127.5(EVC2):c.1287T>C (p.Ser429=)
|
rs148775651
|
0.00059
|
NM_181426.2(CCDC39):c.603C>T (p.Ser201=)
|
rs200422639
|
0.00059
|
NM_014956.5(CEP164):c.1135A>G (p.Ser379Gly)
|
rs200122409
|
0.00058
|
NM_017950.4(CCDC40):c.2061G>A (p.Arg687=)
|
rs189617808
|
0.00058
|
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)
|
rs189556433
|
0.00058
|
NM_145045.5(ODAD3):c.715-19C>G
|
rs149834490
|
0.00058
|
NM_198428.3(BBS9):c.1432+7T>G
|
rs150963080
|
0.00058
|
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=)
|
rs79832792
|
0.00057
|
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser)
|
rs200390821
|
0.00057
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
NM_001382391.1(CSPP1):c.1023-20del
|
rs550798896
|
0.00056
|
NM_001481.3(GAS8):c.1158C>T (p.Asn386=)
|
rs144431155
|
0.00056
|
NM_012144.4(DNAI1):c.1923C>T (p.His641=)
|
rs145218397
|
0.00056
|
NM_017802.4(DNAAF5):c.1257+19G>T
|
rs371368276
|
0.00056
|
NM_018051.5(DYNC2I1):c.3081T>C (p.Ser1027=)
|
rs182098988
|
0.00056
|
NM_018051.5(DYNC2I1):c.519T>C (p.Asp173=)
|
rs76115834
|
0.00056
|
NM_020779.4(WDR35):c.*487C>T
|
rs116951767
|
0.00056
|
NM_031427.4(DNAL1):c.517C>T (p.Leu173=)
|
rs35284335
|
0.00056
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_001277115.2(DNAH11):c.3634T>C (p.Tyr1212His)
|
rs143830019
|
0.00054
|
NM_001277115.2(DNAH11):c.9497A>G (p.Gln3166Arg)
|
rs562875579
|
0.00054
|
NM_001329943.3(KIAA0586):c.2944+8A>C
|
rs571616049
|
0.00054
|
NM_014956.5(CEP164):c.1410-2A>G
|
rs200074826
|
0.00054
|
NM_017777.4(MKS1):c.1498A>G (p.Met500Val)
|
rs144635826
|
0.00054
|
NM_178452.6(DNAAF1):c.1300G>A (p.Gly434Arg)
|
rs117114021
|
0.00054
|
NM_001206927.2(DNAH8):c.5364-5T>G
|
rs200015017
|
0.00053
|
NM_001277115.2(DNAH11):c.8093T>C (p.Leu2698Ser)
|
rs187533108
|
0.00053
|
NM_001134831.2(AHI1):c.990T>C (p.Asp330=)
|
rs376654503
|
0.00052
|
NM_001206927.2(DNAH8):c.2549A>G (p.Glu850Gly)
|
rs117061525
|
0.00052
|
NM_001277115.2(DNAH11):c.4434C>T (p.His1478=)
|
rs139082783
|
0.00052
|
NM_015896.4(ZMYND10):c.478G>A (p.Gly160Arg)
|
rs201896308
|
0.00052
|
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile)
|
rs199676595
|
0.00052
|
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu)
|
rs200121200
|
0.00052
|
NM_019892.6(INPP5E):c.1159+9G>A
|
rs114937687
|
0.00052
|
NM_001277115.2(DNAH11):c.5691C>T (p.Thr1897=)
|
rs200388712
|
0.00051
|
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=)
|
rs199861496
|
0.00051
|
NM_006642.5(SDCCAG8):c.348C>T (p.His116=)
|
rs143226730
|
0.00051
|
NM_020800.3(IFT80):c.60G>A (p.Val20=)
|
rs201088893
|
0.00051
|
NM_147127.5(EVC2):c.2178G>A (p.Glu726=)
|
rs147015327
|
0.00051
|
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)
|
rs144575803
|
0.00050
|
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln)
|
rs200326353
|
0.00050
|
NM_014714.4(IFT140):c.2756G>A (p.Arg919Gln)
|
rs201851204
|
0.00050
|
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
0.00050
|
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)
|
rs191602135
|
0.00050
|
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr)
|
rs201519478
|
0.00050
|
NM_001102564.3(IFT43):c.486G>A (p.Ala162=)
|
rs143729954
|
0.00049
|
NM_001277115.2(DNAH11):c.4734G>C (p.Met1578Ile)
|
rs202009583
|
0.00049
|
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly)
|
rs139406798
|
0.00049
|
NM_015512.5(DNAH1):c.5332-15C>T
|
rs201536701
|
0.00049
|
NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys)
|
rs144077436
|
0.00049
|
NM_024809.5(TCTN2):c.1100-17T>C
|
rs538341461
|
0.00049
|
NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr)
|
rs35496754
|
0.00049
|
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)
|
rs370932895
|
0.00048
|
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala)
|
rs146065418
|
0.00048
|
NM_033028.5(BBS4):c.460-20T>C
|
rs200203402
|
0.00048
|
NM_001277115.2(DNAH11):c.13050-12C>T
|
rs187048874
|
0.00047
|
NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr)
|
rs374033085
|
0.00047
|
NM_015512.5(DNAH1):c.11718G>A (p.Val3906=)
|
rs2302409
|
0.00047
|
NM_153717.3(EVC):c.175-18C>G
|
rs114621329
|
0.00047
|
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln)
|
rs150549982
|
0.00046
|
NM_001034853.2(RPGR):c.1399C>A (p.Gln467Lys)
|
rs774321455
|
0.00046
|
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=)
|
rs140230455
|
0.00046
|
NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala)
|
rs141807661
|
0.00046
|
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=)
|
rs775185371
|
0.00046
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
NM_015662.3(IFT172):c.4933G>A (p.Val1645Ile)
|
rs149117098
|
0.00046
|
NM_018076.5(ODAD2):c.2334G>A (p.Gly778=)
|
rs138219785
|
0.00046
|
NM_018718.3(CEP41):c.*4595G>A
|
rs117814753
|
0.00046
|
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser)
|
rs139927033
|
0.00046
|
NM_025114.4(CEP290):c.2595C>T (p.Leu865=)
|
rs114632733
|
0.00046
|
NM_153704.6(TMEM67):c.369C>T (p.Ala123=)
|
rs115640152
|
0.00046
|
NM_181426.2(CCDC39):c.1818T>C (p.His606=)
|
rs199503571
|
0.00046
|
NM_001034853.2(RPGR):c.222C>T (p.Ala74=)
|
rs143521661
|
0.00045
|
NM_014714.4(IFT140):c.491+7G>A
|
rs187521755
|
0.00045
|
NM_001277115.2(DNAH11):c.4961C>G (p.Ala1654Gly)
|
rs376708182
|
0.00044
|
NM_001369.3(DNAH5):c.8225-17A>G
|
rs140629887
|
0.00044
|
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)
|
rs201874722
|
0.00044
|
NM_003611.3(OFD1):c.1654+9C>T
|
rs200007045
|
0.00044
|
NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=)
|
rs141074491
|
0.00044
|
NM_001206927.2(DNAH8):c.12137G>A (p.Arg4046His)
|
rs139446902
|
0.00043
|
NM_001256715.2(DNAAF3):c.-4G>A
|
rs200851565
|
0.00043
|
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile)
|
rs374351807
|
0.00043
|
NM_017802.4(DNAAF5):c.1539C>T (p.Gly513=)
|
rs577043545
|
0.00042
|
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)
|
rs201460514
|
0.00042
|
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)
|
rs200201741
|
0.00041
|
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)
|
rs35902379
|
0.00041
|
NM_003611.3(OFD1):c.1543-19C>G
|
rs201761130
|
0.00041
|
NM_003611.3(OFD1):c.919G>A (p.Val307Ile)
|
rs139444990
|
0.00041
|
NM_014956.5(CEP164):c.1409+10G>A
|
rs199783386
|
0.00041
|
NM_014956.5(CEP164):c.748G>A (p.Gly250Ser)
|
rs146501105
|
0.00041
|
NM_015512.5(DNAH1):c.12612C>G (p.Pro4204=)
|
rs373606892
|
0.00041
|
NM_001034853.2(RPGR):c.154+14T>C
|
rs200069705
|
0.00040
|
NM_001206927.2(DNAH8):c.13468C>T (p.Arg4490Cys)
|
rs78849281
|
0.00040
|
NM_001329943.3(KIAA0586):c.1129+11del
|
rs142477754
|
0.00040
|
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
NM_014714.4(IFT140):c.*235C>A
|
rs184405274
|
0.00040
|
NM_015512.5(DNAH1):c.969C>T (p.Asp323=)
|
rs3864111
|
0.00040
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
NM_001277115.2(DNAH11):c.5138C>T (p.Thr1713Met)
|
rs202034810
|
0.00039
|
NM_001277115.2(DNAH11):c.5671C>T (p.Pro1891Ser)
|
rs201704416
|
0.00039
|
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln)
|
rs181785201
|
0.00039
|
NM_001277115.2(DNAH11):c.9566C>T (p.Ala3189Val)
|
rs767006890
|
0.00039
|
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp)
|
rs77860620
|
0.00039
|
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe)
|
rs146750552
|
0.00039
|
NM_001369.3(DNAH5):c.13125+10T>A
|
rs2277047
|
0.00039
|
NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)
|
rs142036266
|
0.00039
|
NM_001384732.1(CPLANE1):c.6860G>A (p.Ser2287Asn)
|
rs147451628
|
0.00039
|
NM_014714.4(IFT140):c.3661-18C>T
|
rs575501010
|
0.00039
|
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)
|
rs144703991
|
0.00039
|
NM_018051.5(DYNC2I1):c.2985G>A (p.Gln995=)
|
rs534300999
|
0.00039
|
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala)
|
rs200257398
|
0.00038
|
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=)
|
rs191821211
|
0.00038
|
NM_014714.4(IFT140):c.2829G>A (p.Pro943=)
|
rs141779807
|
0.00038
|
NM_015512.5(DNAH1):c.10080G>C (p.Gln3360His)
|
rs116930509
|
0.00038
|
NM_017802.4(DNAAF5):c.905+15G>A
|
rs200552045
|
0.00038
|
NM_153717.3(EVC):c.1995G>A (p.Ser665=)
|
rs142897994
|
0.00038
|
NM_176824.3(BBS7):c.1230+18T>C
|
rs750801316
|
0.00038
|
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu)
|
rs202156474
|
0.00037
|
NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met)
|
rs199719583
|
0.00037
|
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=)
|
rs536603405
|
0.00037
|
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=)
|
rs143899594
|
0.00037
|
NM_001277115.2(DNAH11):c.11418C>T (p.Phe3806=)
|
rs187814474
|
0.00036
|
NM_001369.3(DNAH5):c.4924G>A (p.Gly1642Arg)
|
rs150050027
|
0.00036
|
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)
|
rs191239995
|
0.00036
|
NM_006642.5(SDCCAG8):c.798T>C (p.His266=)
|
rs74586093
|
0.00036
|
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)
|
rs139131485
|
0.00036
|
NM_014956.5(CEP164):c.726C>T (p.His242=)
|
rs549905287
|
0.00036
|
NM_015512.5(DNAH1):c.1759A>C (p.Asn587His)
|
rs188699424
|
0.00036
|
NM_017777.4(MKS1):c.515+12C>T
|
rs372527189
|
0.00036
|
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp)
|
rs151227843
|
0.00036
|
NM_052844.4(DYNC2I2):c.420C>T (p.Thr140=)
|
rs541654387
|
0.00036
|
NM_080860.4(RSPH1):c.546A>G (p.Gln182=)
|
rs139625725
|
0.00036
|
NM_001034853.2(RPGR):c.1059+6G>A
|
rs377731326
|
0.00035
|
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly)
|
rs138018739
|
0.00035
|
NM_001277115.2(DNAH11):c.1397A>C (p.Lys466Thr)
|
rs147912535
|
0.00035
|
NM_001277115.2(DNAH11):c.4868T>C (p.Ile1623Thr)
|
rs113948334
|
0.00035
|
NM_012472.6(DNAAF11):c.*5T>G
|
rs144068846
|
0.00035
|
NM_015662.3(IFT172):c.3474C>T (p.Phe1158=)
|
rs534566990
|
0.00035
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
NM_001034853.2(RPGR):c.141T>G (p.Ser47=)
|
rs62638631
|
0.00034
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_003611.3(OFD1):c.276T>C (p.Ser92=)
|
rs201675886
|
0.00034
|
NM_015512.5(DNAH1):c.406+18C>G
|
rs561152104
|
0.00034
|
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=)
|
rs146360951
|
0.00034
|
NM_019892.6(INPP5E):c.1387+14C>T
|
rs368410258
|
0.00034
|
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)
|
rs371128500
|
0.00034
|
NM_031885.5(BBS2):c.2079G>A (p.Gln693=)
|
rs150797250
|
0.00034
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys)
|
rs186197620
|
0.00034
|
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)
|
rs572056540
|
0.00034
|
NM_181426.2(CCDC39):c.1137T>C (p.Asp379=)
|
rs374132008
|
0.00034
|
NM_198428.3(BBS9):c.1245C>T (p.Val415=)
|
rs61764066
|
0.00034
|
NM_001034853.2(RPGR):c.153C>T (p.Thr51=)
|
rs201242851
|
0.00033
|
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys)
|
rs116995413
|
0.00033
|
NM_001375405.1(CEP120):c.1431-11_1431-9del
|
rs776090638
|
0.00033
|
NM_001378615.1(CC2D2A):c.3399-15T>C
|
rs181612746
|
0.00033
|
NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln)
|
rs184555568
|
0.00033
|
NM_025132.4(WDR19):c.2364-15_2364-14del
|
rs555557314
|
0.00033
|
NM_052844.4(DYNC2I2):c.1350T>A (p.Val450=)
|
rs200052239
|
0.00033
|
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val)
|
rs147649203
|
0.00032
|
NM_001277115.2(DNAH11):c.5434G>A (p.Val1812Met)
|
rs376798792
|
0.00032
|
NM_014714.4(IFT140):c.1360-14G>A
|
rs369246649
|
0.00032
|
NM_145045.5(ODAD3):c.840+17C>T
|
rs199610953
|
0.00032
|
NM_198525.3(KIF7):c.516G>A (p.Glu172=)
|
rs199959946
|
0.00032
|
NM_000328.3(RPGR):c.1906G>T (p.Asp636Tyr)
|
rs770101727
|
0.00031
|
NM_001134831.2(AHI1):c.3329-7A>G
|
rs370808684
|
0.00031
|
NM_001277115.2(DNAH11):c.2912A>G (p.Asp971Gly)
|
rs147700251
|
0.00031
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile)
|
rs118026202
|
0.00031
|
NM_001378454.1(ALMS1):c.1338+19A>G
|
rs145633676
|
0.00031
|
NM_001384732.1(CPLANE1):c.5820+7C>T
|
rs185534019
|
0.00031
|
NM_014704.4(CEP104):c.2234C>T (p.Pro745Leu)
|
rs201407033
|
0.00031
|
NM_015512.5(DNAH1):c.10923G>A (p.Gln3641=)
|
rs544039760
|
0.00031
|
NM_017802.4(DNAAF5):c.1394G>A (p.Arg465Gln)
|
rs192289643
|
0.00031
|
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly)
|
rs147540469
|
0.00031
|
NM_025114.4(CEP290):c.5226+19T>C
|
rs547955106
|
0.00031
|
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln)
|
rs145045986
|
0.00031
|
NM_198525.3(KIF7):c.3665-5G>A
|
rs79532879
|
0.00031
|
NM_001277115.2(DNAH11):c.2170-12G>A
|
rs117981425
|
0.00030
|
NM_014714.4(IFT140):c.2768+18G>A
|
rs143663088
|
0.00030
|
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val)
|
rs562905902
|
0.00029
|
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=)
|
rs147279669
|
0.00029
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_001277115.2(DNAH11):c.3184G>T (p.Asp1062Tyr)
|
rs371880343
|
0.00029
|
NM_001277115.2(DNAH11):c.5152A>G (p.Ile1718Val)
|
rs137855415
|
0.00029
|
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu)
|
rs139493302
|
0.00029
|
NM_001369.3(DNAH5):c.1126G>T (p.Ala376Ser)
|
rs201469505
|
0.00029
|
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala)
|
rs149187750
|
0.00029
|
NM_001481.3(GAS8):c.45C>A (p.Thr15=)
|
rs188382147
|
0.00029
|
NM_003114.5(SPAG1):c.957T>A (p.Val319=)
|
rs146528350
|
0.00029
|
NM_015512.5(DNAH1):c.3836A>G (p.Lys1279Arg)
|
rs142595873
|
0.00029
|
NM_015512.5(DNAH1):c.6139-10C>T
|
rs548409042
|
0.00029
|
NM_015631.6(TCTN3):c.889-8G>A
|
rs374331871
|
0.00029
|
NM_024649.5(BBS1):c.1695+10G>A
|
rs200276861
|
0.00029
|
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=)
|
rs763570903
|
0.00029
|
NM_001277115.2(DNAH11):c.5875G>A (p.Ala1959Thr)
|
rs373077301
|
0.00028
|
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=)
|
rs200978576
|
0.00028
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys)
|
rs2289532
|
0.00028
|
NM_052844.4(DYNC2I2):c.1425G>C (p.Leu475Phe)
|
rs200702768
|
0.00028
|
NM_001034853.2(RPGR):c.1721C>T (p.Thr574Met)
|
rs202013664
|
0.00027
|
NM_001364171.2(ODAD1):c.1630G>A (p.Ala544Thr)
|
rs74413005
|
0.00027
|
NM_003611.3(OFD1):c.54A>G (p.Glu18=)
|
rs147114577
|
0.00027
|
NM_014714.4(IFT140):c.1422A>G (p.Ile474Met)
|
rs559293157
|
0.00027
|
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys)
|
rs141993646
|
0.00027
|
NM_019892.6(INPP5E):c.183G>A (p.Glu61=)
|
rs570404672
|
0.00027
|
NM_024809.5(TCTN2):c.1643C>T (p.Pro548Leu)
|
rs199931630
|
0.00027
|
NM_025132.4(WDR19):c.1039C>T (p.Leu347=)
|
rs201958863
|
0.00027
|
NM_001277115.2(DNAH11):c.6621T>A (p.Ala2207=)
|
rs574427839
|
0.00026
|
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr)
|
rs147119902
|
0.00026
|
NM_001369.3(DNAH5):c.382G>A (p.Val128Met)
|
rs200553244
|
0.00026
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)
|
rs190694237
|
0.00026
|
NM_003611.3(OFD1):c.2376G>A (p.Glu792=)
|
rs183241931
|
0.00026
|
NM_015512.5(DNAH1):c.12626A>G (p.Gln4209Arg)
|
rs202094249
|
0.00026
|
NM_015662.3(IFT172):c.3951+14G>T
|
rs376690357
|
0.00026
|
NM_018051.5(DYNC2I1):c.2538G>C (p.Leu846Phe)
|
rs201839458
|
0.00026
|
NM_031924.8(RSPH3):c.208G>A (p.Gly70Arg)
|
rs199716916
|
0.00026
|
NM_144596.4(TTC8):c.669G>A (p.Lys223=)
|
rs141304350
|
0.00026
|
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp)
|
rs147191956
|
0.00026
|
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly)
|
rs139435501
|
0.00025
|
NM_152618.3(BBS12):c.1257C>T (p.Ser419=)
|
rs34652786
|
0.00025
|
NM_152732.5(RSPH9):c.512G>A (p.Arg171Gln)
|
rs201032669
|
0.00025
|
NM_001206927.2(DNAH8):c.11781C>A (p.Ala3927=)
|
rs777675600
|
0.00024
|
NM_001277115.2(DNAH11):c.10411G>A (p.Glu3471Lys)
|
rs117729990
|
0.00024
|
NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly)
|
rs199864090
|
0.00024
|
NM_001277115.2(DNAH11):c.661A>T (p.Met221Leu)
|
rs147525173
|
0.00024
|
NM_001277115.2(DNAH11):c.9907A>G (p.Ile3303Val)
|
rs376875223
|
0.00024
|
NM_001369.3(DNAH5):c.11570+13G>A
|
rs80199741
|
0.00024
|
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe)
|
rs148017278
|
0.00024
|
NM_003114.5(SPAG1):c.1057A>G (p.Lys353Glu)
|
rs556774863
|
0.00024
|
NM_003114.5(SPAG1):c.1759C>T (p.Pro587Ser)
|
rs141555196
|
0.00024
|
NM_003114.5(SPAG1):c.832+9del
|
rs549475545
|
0.00024
|
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)
|
rs142352920
|
0.00024
|
NM_015662.3(IFT172):c.3711+3G>A
|
rs202055593
|
0.00024
|
NM_015910.7(WDPCP):c.480C>T (p.Ile160=)
|
rs768777510
|
0.00024
|
NM_031885.5(BBS2):c.1080+14C>T
|
rs375468475
|
0.00024
|
NM_033028.5(BBS4):c.459+14G>C
|
rs200810799
|
0.00024
|
NM_144596.4(TTC8):c.909+18T>C
|
rs111707320
|
0.00024
|
NM_178452.6(DNAAF1):c.1645-19G>A
|
rs192432193
|
0.00024
|
NM_001277115.2(DNAH11):c.3288G>A (p.Met1096Ile)
|
rs575775297
|
0.00023
|
NM_001377.3(DYNC2H1):c.11670A>G (p.Glu3890=)
|
rs368459657
|
0.00023
|
NM_001378615.1(CC2D2A):c.2259C>T (p.Val753=)
|
rs538922641
|
0.00023
|
NM_003611.3(OFD1):c.1129+8T>A
|
rs199572133
|
0.00023
|
NM_003611.3(OFD1):c.2260+12G>A
|
rs375507459
|
0.00023
|
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg)
|
rs146047094
|
0.00023
|
NM_015512.5(DNAH1):c.6411C>T (p.Asn2137=)
|
rs372595174
|
0.00023
|
NM_015662.3(IFT172):c.3594T>C (p.Ser1198=)
|
rs775374622
|
0.00023
|
NM_018051.5(DYNC2I1):c.3118G>A (p.Ala1040Thr)
|
rs539815300
|
0.00023
|
NM_001277115.2(DNAH11):c.5143C>T (p.Arg1715Cys)
|
rs531475386
|
0.00022
|
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro)
|
rs766646786
|
0.00022
|
NM_001369.3(DNAH5):c.4082C>G (p.Pro1361Arg)
|
rs145533843
|
0.00022
|
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)
|
rs201154998
|
0.00022
|
NM_015512.5(DNAH1):c.10582C>T (p.Leu3528=)
|
rs202182939
|
0.00022
|
NM_015512.5(DNAH1):c.5332-14G>A
|
rs375828810
|
0.00022
|
NM_025114.4(CEP290):c.3574-15T>A
|
rs565414938
|
0.00022
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_033028.5(BBS4):c.1107-14T>G
|
rs185052338
|
0.00022
|
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=)
|
rs180881714
|
0.00021
|
NM_001206927.2(DNAH8):c.1095A>G (p.Val365=)
|
rs142065001
|
0.00021
|
NM_001277115.2(DNAH11):c.13010G>A (p.Ser4337Asn)
|
rs759646661
|
0.00021
|
NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys)
|
rs371929703
|
0.00021
|
NM_001277115.2(DNAH11):c.4306C>T (p.Arg1436Trp)
|
rs183489539
|
0.00021
|
NM_001277115.2(DNAH11):c.8072A>G (p.Gln2691Arg)
|
rs183682756
|
0.00021
|
NM_001277115.2(DNAH11):c.8572G>A (p.Gly2858Ser)
|
rs201501951
|
0.00021
|
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg)
|
rs148666497
|
0.00021
|
NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=)
|
rs377584612
|
0.00021
|
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=)
|
rs201016942
|
0.00021
|
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=)
|
rs150924296
|
0.00021
|
NM_003114.5(SPAG1):c.2529C>T (p.Asn843=)
|
rs536210810
|
0.00021
|
NM_015512.5(DNAH1):c.5298G>A (p.Gly1766=)
|
rs149285738
|
0.00021
|
NM_015512.5(DNAH1):c.7794C>T (p.Leu2598=)
|
rs373044616
|
0.00021
|
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn)
|
rs113968324
|
0.00020
|
NM_001174150.2(ARL13B):c.1032T>C (p.Gly344=)
|
rs561410801
|
0.00020
|
NM_001256715.2(DNAAF3):c.-91C>T
|
rs80026905
|
0.00020
|
NM_001277115.2(DNAH11):c.472C>T (p.His158Tyr)
|
rs374186868
|
0.00020
|
NM_001278293.3(ARL6):c.192A>G (p.Ser64=)
|
rs140114162
|
0.00020
|
NM_001369.3(DNAH5):c.11954A>G (p.Asn3985Ser)
|
rs200865219
|
0.00020
|
NM_020800.3(IFT80):c.933A>G (p.Thr311=)
|
rs138798955
|
0.00020
|
NM_001077418.3(TMEM231):c.140-28C>G
|
rs375353411
|
0.00019
|
NM_001277115.2(DNAH11):c.1116G>C (p.Trp372Cys)
|
rs372700740
|
0.00019
|
NM_001277115.2(DNAH11):c.13132G>A (p.Gly4378Ser)
|
rs374818694
|
0.00019
|
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr)
|
rs151145750
|
0.00019
|
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn)
|
rs138832246
|
0.00019
|
NM_001369.3(DNAH5):c.6385G>C (p.Val2129Leu)
|
rs150095347
|
0.00019
|
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=)
|
rs201863754
|
0.00019
|
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr)
|
rs76626268
|
0.00019
|
NM_012144.4(DNAI1):c.1401+7A>G
|
rs370745702
|
0.00019
|
NM_015662.3(IFT172):c.4815+9G>A
|
rs199667794
|
0.00019
|
NM_018139.3(DNAAF2):c.129C>T (p.Leu43=)
|
rs567371975
|
0.00019
|
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=)
|
rs201925425
|
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_001034853.2(RPGR):c.1754-10C>G
|
rs368767915
|
0.00018
|
NM_001277115.2(DNAH11):c.11839+12G>C
|
rs148063720
|
0.00018
|
NM_001277115.2(DNAH11):c.3281T>A (p.Val1094Asp)
|
rs369213196
|
0.00018
|
NM_001277115.2(DNAH11):c.4224G>T (p.Arg1408Ser)
|
rs200216579
|
0.00018
|
NM_001277115.2(DNAH11):c.6010G>A (p.Glu2004Lys)
|
rs772193258
|
0.00018
|
NM_001364171.2(ODAD1):c.1680C>A (p.Thr560=)
|
rs138262031
|
0.00018
|
NM_001369.3(DNAH5):c.1967C>T (p.Ala656Val)
|
rs147911274
|
0.00018
|
NM_001378454.1(ALMS1):c.74_75insGG (p.Glu27fs)
|
rs1553396120
|
0.00018
|
NM_014956.5(CEP164):c.687+15C>T
|
rs200387177
|
0.00018
|
NM_015512.5(DNAH1):c.6204C>T (p.Thr2068=)
|
rs368933400
|
0.00018
|
NM_001277115.2(DNAH11):c.8155-8C>T
|
rs747421878
|
0.00017
|
NM_001377.3(DYNC2H1):c.12457-13T>C
|
rs537890566
|
0.00017
|
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser)
|
rs200465596
|
0.00017
|
NM_003611.3(OFD1):c.2488+13A>G
|
rs369270604
|
0.00017
|
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)
|
rs3747834
|
0.00017
|
NM_014956.5(CEP164):c.2920A>G (p.Thr974Ala)
|
rs56699807
|
0.00017
|
NM_015512.5(DNAH1):c.5690A>G (p.Asn1897Ser)
|
rs138560279
|
0.00017
|
NM_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
NM_033028.5(BBS4):c.1440G>A (p.Thr480=)
|
rs148682268
|
0.00017
|
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=)
|
rs186349183
|
0.00017
|
NM_152732.5(RSPH9):c.819C>T (p.Pro273=)
|
rs79412180
|
0.00017
|
NM_001034853.2(RPGR):c.2729G>A (p.Gly910Glu)
|
rs749762268
|
0.00016
|
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile)
|
rs768274240
|
0.00016
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_001206927.2(DNAH8):c.1860A>C (p.Ile620=)
|
rs149013727
|
0.00016
|
NM_001206927.2(DNAH8):c.3582G>A (p.Ala1194=)
|
rs199802771
|
0.00016
|
NM_001277115.2(DNAH11):c.12407G>A (p.Arg4136His)
|
rs372603233
|
0.00016
|
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)
|
rs201121146
|
0.00016
|
NM_001277115.2(DNAH11):c.2579C>T (p.Ala860Val)
|
rs200459876
|
0.00016
|
NM_001277115.2(DNAH11):c.4370C>T (p.Thr1457Ile)
|
rs200220615
|
0.00016
|
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu)
|
rs117803903
|
0.00016
|
NM_001277115.2(DNAH11):c.7295G>A (p.Arg2432Gln)
|
rs769003090
|
0.00016
|
NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys)
|
rs374826188
|
0.00016
|
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=)
|
rs144553338
|
0.00016
|
NM_014714.4(IFT140):c.2742C>T (p.Ser914=)
|
rs374793763
|
0.00016
|
NM_015512.5(DNAH1):c.11055C>T (p.Ala3685=)
|
rs180952807
|
0.00016
|
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)
|
rs201166295
|
0.00016
|
NM_018139.3(DNAAF2):c.1687G>T (p.Ala563Ser)
|
rs138511448
|
0.00016
|
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)
|
rs182851622
|
0.00016
|
NM_198525.3(KIF7):c.3964T>C (p.Ser1322Pro)
|
rs200891085
|
0.00016
|
NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu)
|
rs201187909
|
0.00015
|
NM_001034853.2(RPGR):c.1710G>A (p.Thr570=)
|
rs138347728
|
0.00015
|
NM_001034853.2(RPGR):c.310+10T>C
|
rs373028441
|
0.00015
|
NM_001277115.2(DNAH11):c.2570G>A (p.Arg857Gln)
|
rs376572966
|
0.00015
|
NM_001277115.2(DNAH11):c.9305G>A (p.Gly3102Asp)
|
rs774083447
|
0.00015
|
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys)
|
rs147844088
|
0.00015
|
NM_003611.3(OFD1):c.2235C>T (p.Ser745=)
|
rs372503752
|
0.00015
|
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)
|
rs143671920
|
0.00015
|
NM_019892.6(INPP5E):c.1470C>T (p.Asp490=)
|
rs375301475
|
0.00015
|
NM_033028.5(BBS4):c.1215C>G (p.Leu405=)
|
rs3759869
|
0.00015
|
NM_033124.5(CCDC65):c.660A>G (p.Glu220=)
|
rs144573949
|
0.00015
|
NM_001034853.2(RPGR):c.1176G>C (p.Pro392=)
|
rs149742786
|
0.00014
|
NM_001134831.2(AHI1):c.189+12T>C
|
rs199617785
|
0.00014
|
NM_001277115.2(DNAH11):c.3109C>G (p.His1037Asp)
|
rs370878348
|
0.00014
|
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro)
|
rs202224167
|
0.00014
|
NM_001369.3(DNAH5):c.13492-15T>C
|
rs192514899
|
0.00014
|
NM_001377.3(DYNC2H1):c.11904C>T (p.Ser3968=)
|
rs767613863
|
0.00014
|
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)
|
rs185072004
|
0.00014
|
NM_003114.5(SPAG1):c.474C>T (p.Tyr158=)
|
rs74597335
|
0.00014
|
NM_003611.3(OFD1):c.2959C>A (p.Leu987Ile)
|
rs148543618
|
0.00014
|
NM_014704.4(CEP104):c.2564G>A (p.Gly855Glu)
|
rs148840465
|
0.00014
|
NM_015512.5(DNAH1):c.2828T>C (p.Ile943Thr)
|
rs201816069
|
0.00014
|
NM_030578.4(B9D2):c.513C>T (p.Tyr171=)
|
rs143680317
|
0.00014
|
NM_080860.4(RSPH1):c.573+9C>T
|
rs376931534
|
0.00014
|
NM_153717.3(EVC):c.2241G>A (p.Ala747=)
|
rs142094016
|
0.00014
|
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr)
|
rs748268896
|
0.00014
|
NM_153717.3(EVC):c.940-12C>G
|
rs200707006
|
0.00014
|
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu)
|
rs761136963
|
0.00014
|
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=)
|
rs77896636
|
0.00014
|
NM_001277115.2(DNAH11):c.5993G>A (p.Gly1998Asp)
|
rs369704964
|
0.00013
|
NM_001369.3(DNAH5):c.11559T>C (p.Leu3853=)
|
rs774935271
|
0.00013
|
NM_001369.3(DNAH5):c.2891A>T (p.His964Leu)
|
rs199698421
|
0.00013
|
NM_001378454.1(ALMS1):c.646+15T>G
|
rs200821435
|
0.00013
|
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu)
|
rs146251034
|
0.00013
|
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly)
|
rs539181813
|
0.00013
|
NM_014956.5(CEP164):c.828C>T (p.Ala276=)
|
rs201125321
|
0.00013
|
NM_015512.5(DNAH1):c.1957C>T (p.Pro653Ser)
|
rs200101285
|
0.00013
|
NM_017802.4(DNAAF5):c.1270G>A (p.Ala424Thr)
|
rs141828030
|
0.00013
|
NM_017950.4(CCDC40):c.1317+20C>T
|
rs372184999
|
0.00013
|
NM_020779.4(WDR35):c.765C>T (p.Tyr255=)
|
rs117255034
|
0.00013
|
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn)
|
rs202093384
|
0.00013
|
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys)
|
rs368031148
|
0.00013
|
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=)
|
rs145089607
|
0.00012
|
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)
|
rs35222922
|
0.00012
|
NM_001277115.2(DNAH11):c.3494A>G (p.Asp1165Gly)
|
rs370436662
|
0.00012
|
NM_001277115.2(DNAH11):c.3545G>A (p.Arg1182Gln)
|
rs368316519
|
0.00012
|
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg)
|
rs763198301
|
0.00012
|
NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His)
|
rs140975593
|
0.00012
|
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=)
|
rs144001451
|
0.00012
|
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=)
|
rs375774377
|
0.00012
|
NM_015681.6(B9D1):c.245-19C>A
|
rs774504181
|
0.00012
|
NM_024809.5(TCTN2):c.565-18T>G
|
rs368179378
|
0.00012
|
NM_033124.5(CCDC65):c.747G>A (p.Val249=)
|
rs201132346
|
0.00012
|
NM_153704.6(TMEM67):c.312+14A>G
|
rs202135944
|
0.00012
|
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_001174150.2(ARL13B):c.568A>G (p.Ile190Val)
|
rs193219215
|
0.00011
|
NM_001277115.2(DNAH11):c.10637C>T (p.Thr3546Met)
|
rs374549012
|
0.00011
|
NM_001277115.2(DNAH11):c.11714G>C (p.Gly3905Ala)
|
rs767288107
|
0.00011
|
NM_001277115.2(DNAH11):c.1232G>A (p.Gly411Glu)
|
rs552249954
|
0.00011
|
NM_001277115.2(DNAH11):c.12796T>A (p.Phe4266Ile)
|
rs186358036
|
0.00011
|
NM_001277115.2(DNAH11):c.13211C>T (p.Thr4404Met)
|
rs768366183
|
0.00011
|
NM_001277115.2(DNAH11):c.13243A>C (p.Lys4415Gln)
|
rs372325290
|
0.00011
|
NM_001277115.2(DNAH11):c.2054G>A (p.Arg685His)
|
rs202234068
|
0.00011
|
NM_001277115.2(DNAH11):c.3422A>T (p.Asp1141Val)
|
rs373365959
|
0.00011
|
NM_001277115.2(DNAH11):c.6029A>G (p.Lys2010Arg)
|
rs183609678
|
0.00011
|
NM_001277115.2(DNAH11):c.6118C>T (p.Arg2040Cys)
|
rs199772877
|
0.00011
|
NM_001277115.2(DNAH11):c.7134+17G>A
|
rs569031640
|
0.00011
|
NM_001277115.2(DNAH11):c.7360G>T (p.Val2454Leu)
|
rs536942937
|
0.00011
|
NM_001277115.2(DNAH11):c.8870C>G (p.Ala2957Gly)
|
rs369875222
|
0.00011
|
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=)
|
rs554948147
|
0.00011
|
NM_001369.3(DNAH5):c.11492C>G (p.Thr3831Ser)
|
rs111313832
|
0.00011
|
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn)
|
rs749126116
|
0.00011
|
NM_001369.3(DNAH5):c.2039C>T (p.Ala680Val)
|
rs374086061
|
0.00011
|
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met)
|
rs146828513
|
0.00011
|
NM_001369.3(DNAH5):c.360T>C (p.Asp120=)
|
rs368412855
|
0.00011
|
NM_001377.3(DYNC2H1):c.8271A>G (p.Gln2757=)
|
rs183652156
|
0.00011
|
NM_001378615.1(CC2D2A):c.717+11T>C
|
rs184351317
|
0.00011
|
NM_001481.3(GAS8):c.550+10C>T
|
rs77534905
|
0.00011
|
NM_003611.3(OFD1):c.1536A>G (p.Gln512=)
|
rs138532127
|
0.00011
|
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln)
|
rs746612831
|
0.00011
|
NM_003611.3(OFD1):c.2600-4T>G
|
rs753195130
|
0.00011
|
NM_003611.3(OFD1):c.780C>T (p.Leu260=)
|
rs368900892
|
0.00011
|
NM_003611.3(OFD1):c.781G>A (p.Val261Ile)
|
rs149733425
|
0.00011
|
NM_003611.3(OFD1):c.795G>A (p.Lys265=)
|
rs745443262
|
0.00011
|
NM_003611.3(OFD1):c.936-2A>G
|
rs199902986
|
0.00011
|
NM_014714.4(IFT140):c.3874-10A>C
|
rs761503137
|
0.00011
|
NM_015681.6(B9D1):c.516C>T (p.Asn172=)
|
rs149758860
|
0.00011
|
NM_018051.5(DYNC2I1):c.1461-14A>C
|
rs780344639
|
0.00011
|
NM_020800.3(IFT80):c.879C>T (p.Val293=)
|
rs143660757
|
0.00011
|
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys)
|
rs200158553
|
0.00011
|
NM_025132.4(WDR19):c.1249+9A>G
|
rs201377206
|
0.00011
|
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=)
|
rs181975379
|
0.00011
|
NM_153717.3(EVC):c.2298C>T (p.Asp766=)
|
rs140546984
|
0.00011
|
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)
|
rs150284356
|
0.00011
|
NM_181426.2(CCDC39):c.210+4C>T
|
rs182803063
|
0.00011
|
NM_001034853.2(RPGR):c.1163C>T (p.Ala388Val)
|
rs199661899
|
0.00010
|
NM_001034853.2(RPGR):c.3402A>C (p.Pro1134=)
|
rs199602213
|
0.00010
|
NM_001277115.2(DNAH11):c.11678C>T (p.Thr3893Met)
|
rs763843747
|
0.00010
|
NM_001277115.2(DNAH11):c.12567A>G (p.Ala4189=)
|
rs562534503
|
0.00010
|
NM_001277115.2(DNAH11):c.1586C>G (p.Thr529Ser)
|
rs183509559
|
0.00010
|
NM_001277115.2(DNAH11):c.5318A>G (p.His1773Arg)
|
rs200295318
|
0.00010
|
NM_001277115.2(DNAH11):c.5360T>C (p.Leu1787Ser)
|
rs368039476
|
0.00010
|
NM_001277115.2(DNAH11):c.773T>C (p.Ile258Thr)
|
rs771437656
|
0.00010
|
NM_001277115.2(DNAH11):c.8299G>A (p.Ala2767Thr)
|
rs200628085
|
0.00010
|
NM_001277115.2(DNAH11):c.8456A>G (p.Asn2819Ser)
|
rs371215793
|
0.00010
|
NM_001277115.2(DNAH11):c.9860G>A (p.Arg3287Gln)
|
rs750119982
|
0.00010
|
NM_001364171.2(ODAD1):c.1702G>A (p.Val568Ile)
|
rs190964996
|
0.00010
|
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)
|
rs141971313
|
0.00010
|
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His)
|
rs148539877
|
0.00010
|
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)
|
rs778205727
|
0.00010
|
NM_003611.3(OFD1):c.935+12A>G
|
rs199773671
|
0.00010
|
NM_014956.5(CEP164):c.3484C>A (p.Arg1162Ser)
|
rs138487235
|
0.00010
|
NM_020779.4(WDR35):c.2835A>G (p.Glu945=)
|
rs182928585
|
0.00010
|
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr)
|
rs200090371
|
0.00010
|
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=)
|
rs79353057
|
0.00010
|
NM_001206927.2(DNAH8):c.1110C>T (p.Ile370=)
|
rs200423630
|
0.00009
|
NM_001277115.2(DNAH11):c.10121A>G (p.Lys3374Arg)
|
rs763155183
|
0.00009
|
NM_001277115.2(DNAH11):c.10380G>A (p.Thr3460=)
|
rs535847014
|
0.00009
|
NM_001277115.2(DNAH11):c.10449C>T (p.Ala3483=)
|
rs117000348
|
0.00009
|
NM_001277115.2(DNAH11):c.11260C>G (p.Gln3754Glu)
|
rs372918576
|
0.00009
|
NM_001277115.2(DNAH11):c.133G>A (p.Ala45Thr)
|
rs772333047
|
0.00009
|
NM_001277115.2(DNAH11):c.1567T>C (p.Tyr523His)
|
rs200126117
|
0.00009
|
NM_001277115.2(DNAH11):c.2829T>G (p.Phe943Leu)
|
rs367640600
|
0.00009
|
NM_001277115.2(DNAH11):c.3910C>T (p.Arg1304Cys)
|
rs759530635
|
0.00009
|
NM_001277115.2(DNAH11):c.4667T>C (p.Ile1556Thr)
|
rs370239008
|
0.00009
|
NM_001277115.2(DNAH11):c.4900G>A (p.Ala1634Thr)
|
rs375527837
|
0.00009
|
NM_001277115.2(DNAH11):c.932A>G (p.Gln311Arg)
|
rs199579217
|
0.00009
|
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys)
|
rs190450522
|
0.00009
|
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly)
|
rs368776967
|
0.00009
|
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met)
|
rs140690090
|
0.00009
|
NM_001369.3(DNAH5):c.7888-20A>T
|
rs756960542
|
0.00009
|
NM_001377.3(DYNC2H1):c.11677T>C (p.Leu3893=)
|
rs190141107
|
0.00009
|
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val)
|
rs139902197
|
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_003611.3(OFD1):c.1271A>G (p.Asn424Ser)
|
rs532274932
|
0.00009
|
NM_003611.3(OFD1):c.476T>C (p.Met159Thr)
|
rs141708295
|
0.00009
|
NM_017950.4(CCDC40):c.29+11C>G
|
rs769092437
|
0.00009
|
NM_018051.5(DYNC2I1):c.3045T>C (p.Gly1015=)
|
rs377462355
|
0.00009
|
NM_023036.6(DNAI2):c.1485A>G (p.Val495=)
|
rs200587166
|
0.00009
|
NM_024753.5(TTC21B):c.783G>T (p.Gly261=)
|
rs200255917
|
0.00009
|
NM_052844.4(DYNC2I2):c.477G>A (p.Ala159=)
|
rs186228177
|
0.00009
|
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)
|
rs199824658
|
0.00009
|
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr)
|
rs114655330
|
0.00009
|
NM_198428.3(BBS9):c.678A>G (p.Lys226=)
|
rs201231133
|
0.00009
|
NM_001034853.2(RPGR):c.1098T>C (p.Ala366=)
|
rs369391462
|
0.00008
|
NM_001034853.2(RPGR):c.619+6A>G
|
rs760782164
|
0.00008
|
NM_001199397.3(NEK1):c.1080+20G>A
|
rs192292678
|
0.00008
|
NM_001277115.2(DNAH11):c.10627C>T (p.Leu3543Phe)
|
rs370350252
|
0.00008
|
NM_001277115.2(DNAH11):c.11506G>A (p.Val3836Ile)
|
rs767109418
|
0.00008
|
NM_001277115.2(DNAH11):c.12344T>G (p.Ile4115Ser)
|
rs371418299
|
0.00008
|
NM_001277115.2(DNAH11):c.12569G>A (p.Gly4190Asp)
|
rs374787771
|
0.00008
|
NM_001277115.2(DNAH11):c.3778G>A (p.Glu1260Lys)
|
rs368067029
|
0.00008
|
NM_001277115.2(DNAH11):c.5144G>A (p.Arg1715His)
|
rs763926220
|
0.00008
|
NM_001277115.2(DNAH11):c.5446C>A (p.Leu1816Ile)
|
rs112892548
|
0.00008
|
NM_001277115.2(DNAH11):c.6412G>A (p.Val2138Ile)
|
rs764043342
|
0.00008
|
NM_001277115.2(DNAH11):c.6916G>A (p.Ala2306Thr)
|
rs200223750
|
0.00008
|
NM_001277115.2(DNAH11):c.806G>T (p.Gly269Val)
|
rs374505775
|
0.00008
|
NM_001277115.2(DNAH11):c.845T>C (p.Met282Thr)
|
rs747087320
|
0.00008
|
NM_001277115.2(DNAH11):c.8764T>C (p.Phe2922Leu)
|
rs552567607
|
0.00008
|
NM_001369.3(DNAH5):c.9911C>T (p.Ser3304Leu)
|
rs139821753
|
0.00008
|
NM_001369.3(DNAH5):c.9919G>A (p.Ala3307Thr)
|
rs757212818
|
0.00008
|
NM_001377.3(DYNC2H1):c.4968+7G>A
|
rs186890804
|
0.00008
|
NM_014956.5(CEP164):c.3364C>T (p.Arg1122Cys)
|
rs149875085
|
0.00008
|
NM_015512.5(DNAH1):c.10770C>T (p.Phe3590=)
|
rs369033532
|
0.00008
|
NM_015512.5(DNAH1):c.4874+18C>T
|
rs367799933
|
0.00008
|
NM_015631.6(TCTN3):c.933G>T (p.Leu311=)
|
rs371380545
|
0.00008
|
NM_020779.4(WDR35):c.867C>T (p.Tyr289=)
|
rs185888517
|
0.00008
|
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)
|
rs138961848
|
0.00008
|
NM_031427.4(DNAL1):c.42+9A>G
|
rs751332640
|
0.00008
|
NM_153717.3(EVC):c.1564-6C>T
|
rs188245524
|
0.00008
|
NM_176824.3(BBS7):c.1311C>T (p.Asn437=)
|
rs199812109
|
0.00008
|
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=)
|
rs557695110
|
0.00007
|
NM_001082538.3(TCTN1):c.1636-18T>G
|
rs574360617
|
0.00007
|
NM_001277115.2(DNAH11):c.1409G>A (p.Arg470His)
|
rs775108833
|
0.00007
|
NM_001277115.2(DNAH11):c.2525G>T (p.Arg842Met)
|
rs546817580
|
0.00007
|
NM_001277115.2(DNAH11):c.2576C>T (p.Ala859Val)
|
rs150414068
|
0.00007
|
NM_001277115.2(DNAH11):c.3410G>T (p.Arg1137Ile)
|
rs72657305
|
0.00007
|
NM_001277115.2(DNAH11):c.6662C>T (p.Thr2221Ile)
|
rs373624232
|
0.00007
|
NM_001364171.2(ODAD1):c.708G>A (p.Ala236=)
|
rs755132968
|
0.00007
|
NM_001369.3(DNAH5):c.11969C>A (p.Ser3990Tyr)
|
rs1000624148
|
0.00007
|
NM_001369.3(DNAH5):c.11998A>T (p.Ile4000Phe)
|
rs1490888369
|
0.00007
|
NM_001369.3(DNAH5):c.3379A>G (p.Ile1127Val)
|
rs763824667
|
0.00007
|
NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr)
|
rs201230660
|
0.00007
|
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln)
|
rs146930931
|
0.00007
|
NM_003611.3(OFD1):c.2260+15C>G
|
rs768776950
|
0.00007
|
NM_014714.4(IFT140):c.1653-14C>T
|
rs148433720
|
0.00007
|
NM_014956.5(CEP164):c.4053G>A (p.Thr1351=)
|
rs373842310
|
0.00007
|
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=)
|
rs184805842
|
0.00007
|
NM_015681.6(B9D1):c.597C>G (p.Pro199=)
|
rs753785719
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=)
|
rs189871589
|
0.00007
|
NM_025132.4(WDR19):c.3261+20C>T
|
rs547317070
|
0.00007
|
NM_176824.3(BBS7):c.*932T>G
|
rs3217755
|
0.00007
|
NM_178452.6(DNAAF1):c.353-18G>A
|
rs201504436
|
0.00007
|
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)
|
rs553968087
|
0.00007
|
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=)
|
rs371899538
|
0.00006
|
NM_001102564.3(IFT43):c.55-17T>C
|
rs200685248
|
0.00006
|
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)
|
rs200949030
|
0.00006
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
NM_001206927.2(DNAH8):c.952+14T>C
|
rs188837503
|
0.00006
|
NM_001277115.2(DNAH11):c.10631A>G (p.Glu3544Gly)
|
rs928335497
|
0.00006
|
NM_001277115.2(DNAH11):c.11458G>A (p.Val3820Ile)
|
rs777011433
|
0.00006
|
NM_001277115.2(DNAH11):c.1502A>G (p.Asn501Ser)
|
rs773705030
|
0.00006
|
NM_001277115.2(DNAH11):c.1720A>G (p.Ile574Val)
|
rs374359812
|
0.00006
|
NM_001277115.2(DNAH11):c.2402C>T (p.Thr801Met)
|
rs370878968
|
0.00006
|
NM_001277115.2(DNAH11):c.2909A>G (p.Tyr970Cys)
|
rs200258739
|
0.00006
|
NM_001277115.2(DNAH11):c.3040C>G (p.Gln1014Glu)
|
rs375314297
|
0.00006
|
NM_001277115.2(DNAH11):c.3058G>C (p.Val1020Leu)
|
rs779573927
|
0.00006
|
NM_001277115.2(DNAH11):c.3425+18T>G
|
rs569042999
|
0.00006
|
NM_001277115.2(DNAH11):c.3726G>A (p.Ala1242=)
|
rs772101696
|
0.00006
|
NM_001277115.2(DNAH11):c.4951T>C (p.Cys1651Arg)
|
rs374946621
|
0.00006
|
NM_001277115.2(DNAH11):c.6131G>A (p.Arg2044Gln)
|
rs372051486
|
0.00006
|
NM_001277115.2(DNAH11):c.647C>T (p.Thr216Ile)
|
rs375238384
|
0.00006
|
NM_001277115.2(DNAH11):c.6514G>C (p.Val2172Leu)
|
rs375008007
|
0.00006
|
NM_001277115.2(DNAH11):c.6664C>G (p.Arg2222Gly)
|
rs773498002
|
0.00006
|
NM_001277115.2(DNAH11):c.7279C>G (p.Gln2427Glu)
|
rs202236144
|
0.00006
|
NM_001277115.2(DNAH11):c.7292G>T (p.Ser2431Ile)
|
rs185039462
|
0.00006
|
NM_001277115.2(DNAH11):c.8822A>G (p.Asp2941Gly)
|
rs749515793
|
0.00006
|
NM_001277115.2(DNAH11):c.9463G>A (p.Ala3155Thr)
|
rs752191917
|
0.00006
|
NM_001277115.2(DNAH11):c.9487A>G (p.Thr3163Ala)
|
rs373850047
|
0.00006
|
NM_001277115.2(DNAH11):c.971C>T (p.Ala324Val)
|
rs79874320
|
0.00006
|
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys)
|
rs550602612
|
0.00006
|
NM_001277115.2(DNAH11):c.998A>G (p.Gln333Arg)
|
rs878854450
|
0.00006
|
NM_001369.3(DNAH5):c.10035T>C (p.Cys3345=)
|
rs150268680
|
0.00006
|
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=)
|
rs150773884
|
0.00006
|
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His)
|
rs138838869
|
0.00006
|
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=)
|
rs202103048
|
0.00006
|
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met)
|
rs141828476
|
0.00006
|
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys)
|
rs141651575
|
0.00006
|
NM_001369.3(DNAH5):c.2052+17A>G
|
rs369276405
|
0.00006
|
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu)
|
rs139857637
|
0.00006
|
NM_001369.3(DNAH5):c.7452C>A (p.Phe2484Leu)
|
rs561666802
|
0.00006
|
NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu)
|
rs138494768
|
0.00006
|
NM_001375405.1(CEP120):c.610C>A (p.Gln204Lys)
|
rs548355953
|
0.00006
|
NM_003114.5(SPAG1):c.701+18G>A
|
rs759056211
|
0.00006
|
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys)
|
rs185831378
|
0.00006
|
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys)
|
rs772233258
|
0.00006
|
NM_003611.3(OFD1):c.432A>G (p.Leu144=)
|
rs759705433
|
0.00006
|
NM_003611.3(OFD1):c.451C>T (p.His151Tyr)
|
rs137993158
|
0.00006
|
NM_014956.5(CEP164):c.1399C>T (p.Leu467=)
|
rs528252533
|
0.00006
|
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg)
|
rs375051705
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=)
|
rs760245904
|
0.00006
|
NM_015512.5(DNAH1):c.6492C>T (p.Asn2164=)
|
rs148269954
|
0.00006
|
NM_015662.3(IFT172):c.915A>G (p.Thr305=)
|
rs180855666
|
0.00006
|
NM_016616.5(NME8):c.747C>T (p.Asn249=)
|
rs371745920
|
0.00006
|
NM_017802.4(DNAAF5):c.1371C>T (p.Ala457=)
|
rs568531246
|
0.00006
|
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr)
|
rs372976809
|
0.00006
|
NM_018051.5(DYNC2I1):c.2257+10A>G
|
rs747339634
|
0.00006
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_023036.6(DNAI2):c.396G>A (p.Glu132=)
|
rs777369529
|
0.00006
|
NM_025114.4(CEP290):c.5227-9A>G
|
rs571981633
|
0.00006
|
NM_031924.8(RSPH3):c.205-13C>T
|
rs200799554
|
0.00006
|
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr)
|
rs140895713
|
0.00006
|
NM_153717.3(EVC):c.*2466G>A
|
rs572400824
|
0.00006
|
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro)
|
rs201785599
|
0.00006
|
NM_181426.2(CCDC39):c.1459C>G (p.Leu487Val)
|
rs200651695
|
0.00006
|
NM_198525.3(KIF7):c.530-7C>T
|
rs202043641
|
0.00006
|
NM_001034853.2(RPGR):c.1145A>T (p.Asp382Val)
|
rs757714144
|
0.00005
|
NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys)
|
rs62638645
|
0.00005
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
NM_001277115.2(DNAH11):c.10796A>G (p.Gln3599Arg)
|
rs371437266
|
0.00005
|
NM_001277115.2(DNAH11):c.10978G>C (p.Ala3660Pro)
|
rs200057913
|
0.00005
|
NM_001277115.2(DNAH11):c.11114A>G (p.Tyr3705Cys)
|
rs370580628
|
0.00005
|
NM_001277115.2(DNAH11):c.12553T>C (p.Tyr4185His)
|
rs570869472
|
0.00005
|
NM_001277115.2(DNAH11):c.12700C>T (p.Pro4234Ser)
|
rs376606944
|
0.00005
|
NM_001277115.2(DNAH11):c.12992C>T (p.Thr4331Met)
|
rs760795047
|
0.00005
|
NM_001277115.2(DNAH11):c.13262C>T (p.Pro4421Leu)
|
rs780579730
|
0.00005
|
NM_001277115.2(DNAH11):c.2050A>T (p.Ser684Cys)
|
rs367670668
|
0.00005
|
NM_001277115.2(DNAH11):c.2243C>T (p.Ala748Val)
|
rs372819257
|
0.00005
|
NM_001277115.2(DNAH11):c.3600G>A (p.Leu1200=)
|
rs368872150
|
0.00005
|
NM_001277115.2(DNAH11):c.4230G>T (p.Trp1410Cys)
|
rs367916239
|
0.00005
|
NM_001277115.2(DNAH11):c.5591C>G (p.Pro1864Arg)
|
rs367858452
|
0.00005
|
NM_001277115.2(DNAH11):c.6595G>A (p.Val2199Ile)
|
rs368678650
|
0.00005
|
NM_001277115.2(DNAH11):c.7864G>A (p.Ala2622Thr)
|
rs200462132
|
0.00005
|
NM_001277115.2(DNAH11):c.8336T>C (p.Leu2779Pro)
|
rs770508431
|
0.00005
|
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=)
|
rs199982600
|
0.00005
|
NM_001369.3(DNAH5):c.1830G>A (p.Gln610=)
|
rs549164618
|
0.00005
|
NM_001369.3(DNAH5):c.300G>C (p.Gly100=)
|
rs543407739
|
0.00005
|
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly)
|
rs369783406
|
0.00005
|
NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr)
|
rs758513686
|
0.00005
|
NM_001369.3(DNAH5):c.5776G>A (p.Glu1926Lys)
|
rs771222700
|
0.00005
|
NM_001375405.1(CEP120):c.322-8T>C
|
rs189324274
|
0.00005
|
NM_001377.3(DYNC2H1):c.12457-9C>T
|
rs182352576
|
0.00005
|
NM_003611.3(OFD1):c.1460G>A (p.Arg487Gln)
|
rs147104722
|
0.00005
|
NM_003611.3(OFD1):c.2489-17A>C
|
rs182042414
|
0.00005
|
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln)
|
rs371848382
|
0.00005
|
NM_003611.3(OFD1):c.567G>A (p.Gln189=)
|
rs375104416
|
0.00005
|
NM_003611.3(OFD1):c.858G>A (p.Arg286=)
|
rs778507612
|
0.00005
|
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=)
|
rs150813870
|
0.00005
|
NM_014714.4(IFT140):c.1200C>T (p.Ser400=)
|
rs778020037
|
0.00005
|
NM_014714.4(IFT140):c.2493C>T (p.Arg831=)
|
rs745477833
|
0.00005
|
NM_014714.4(IFT140):c.594G>A (p.Gly198=)
|
rs754896534
|
0.00005
|
NM_015662.3(IFT172):c.4990C>T (p.Arg1664Trp)
|
rs139348179
|
0.00005
|
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)
|
rs201872547
|
0.00005
|
NM_147127.5(EVC2):c.209G>T (p.Gly70Val)
|
rs754380041
|
0.00005
|
NM_152384.3(BBS5):c.190T>C (p.Leu64=)
|
rs777369461
|
0.00005
|
NM_152384.3(BBS5):c.817-5T>G
|
rs780213701
|
0.00005
|
NM_198428.3(BBS9):c.270C>T (p.Thr90=)
|
rs747398844
|
0.00005
|
NM_213607.3(CCDC103):c.618C>T (p.Ser206=)
|
rs186133494
|
0.00005
|
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
|
rs372686071
|
0.00004
|
NM_001044385.3(TMEM237):c.274+11A>G
|
rs200487330
|
0.00004
|
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
|
rs544767440
|
0.00004
|
NM_001199397.3(NEK1):c.2587+14G>T
|
rs368032168
|
0.00004
|
NM_001206927.2(DNAH8):c.2037A>G (p.Gln679=)
|
rs761979645
|
0.00004
|
NM_001206927.2(DNAH8):c.3035-4A>G
|
rs185584533
|
0.00004
|
NM_001206927.2(DNAH8):c.4881C>T (p.Ile1627=)
|
rs200549336
|
0.00004
|
NM_001206927.2(DNAH8):c.8524A>G (p.Ile2842Val)
|
rs377381072
|
0.00004
|
NM_001256715.2(DNAAF3):c.-15G>C
|
rs541817053
|
0.00004
|
NM_001277115.2(DNAH11):c.10055C>T (p.Thr3352Met)
|
rs369182142
|
0.00004
|
NM_001277115.2(DNAH11):c.10241C>T (p.Thr3414Met)
|
rs779964310
|
0.00004
|
NM_001277115.2(DNAH11):c.10274C>A (p.Thr3425Lys)
|
rs367800491
|
0.00004
|
NM_001277115.2(DNAH11):c.10450G>A (p.Ala3484Thr)
|
rs372745850
|
0.00004
|
NM_001277115.2(DNAH11):c.11254G>A (p.Asp3752Asn)
|
rs370395919
|
0.00004
|
NM_001277115.2(DNAH11):c.11363T>C (p.Met3788Thr)
|
rs374799169
|
0.00004
|
NM_001277115.2(DNAH11):c.11581G>A (p.Glu3861Lys)
|
rs367596683
|
0.00004
|
NM_001277115.2(DNAH11):c.11695T>G (p.Phe3899Val)
|
rs751430515
|
0.00004
|
NM_001277115.2(DNAH11):c.12008A>T (p.Lys4003Met)
|
rs751059559
|
0.00004
|
NM_001277115.2(DNAH11):c.12745G>A (p.Glu4249Lys)
|
rs747119409
|
0.00004
|
NM_001277115.2(DNAH11):c.168C>G (p.Asp56Glu)
|
rs978373825
|
0.00004
|
NM_001277115.2(DNAH11):c.1723T>C (p.Phe575Leu)
|
rs747110907
|
0.00004
|
NM_001277115.2(DNAH11):c.183C>T (p.Phe61=)
|
rs571142873
|
0.00004
|
NM_001277115.2(DNAH11):c.2248T>G (p.Phe750Val)
|
rs776959465
|
0.00004
|
NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg)
|
rs745305844
|
0.00004
|
NM_001277115.2(DNAH11):c.3236T>C (p.Leu1079Pro)
|
rs371800860
|
0.00004
|
NM_001277115.2(DNAH11):c.3263T>C (p.Ile1088Thr)
|
rs755583135
|
0.00004
|
NM_001277115.2(DNAH11):c.3391T>A (p.Phe1131Ile)
|
rs756403735
|
0.00004
|
NM_001277115.2(DNAH11):c.3911G>A (p.Arg1304His)
|
rs369475751
|
0.00004
|
NM_001277115.2(DNAH11):c.4466A>G (p.Asp1489Gly)
|
rs371659661
|
0.00004
|
NM_001277115.2(DNAH11):c.4944+6del
|
rs531049764
|
0.00004
|
NM_001277115.2(DNAH11):c.5176G>A (p.Glu1726Lys)
|
rs373580829
|
0.00004
|
NM_001277115.2(DNAH11):c.5241A>G (p.Gln1747=)
|
rs372802443
|
0.00004
|
NM_001277115.2(DNAH11):c.5296G>A (p.Glu1766Lys)
|
rs371235859
|
0.00004
|
NM_001277115.2(DNAH11):c.5410A>G (p.Thr1804Ala)
|
rs567159036
|
0.00004
|
NM_001277115.2(DNAH11):c.5669C>G (p.Ala1890Gly)
|
rs772740368
|
0.00004
|
NM_001277115.2(DNAH11):c.5702A>C (p.Glu1901Ala)
|
rs750672801
|
0.00004
|
NM_001277115.2(DNAH11):c.5991G>A (p.Pro1997=)
|
rs763685245
|
0.00004
|
NM_001277115.2(DNAH11):c.6116C>T (p.Ala2039Val)
|
rs371460473
|
0.00004
|
NM_001277115.2(DNAH11):c.6152C>T (p.Thr2051Met)
|
rs375341444
|
0.00004
|
NM_001277115.2(DNAH11):c.6173C>T (p.Ser2058Phe)
|
rs765090393
|
0.00004
|
NM_001277115.2(DNAH11):c.6847G>A (p.Ala2283Thr)
|
rs372264255
|
0.00004
|
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu)
|
rs776376992
|
0.00004
|
NM_001277115.2(DNAH11):c.7226C>T (p.Ala2409Val)
|
rs769281862
|
0.00004
|
NM_001277115.2(DNAH11):c.7511A>G (p.Lys2504Arg)
|
rs775730577
|
0.00004
|
NM_001277115.2(DNAH11):c.8335C>A (p.Leu2779Met)
|
rs760409547
|
0.00004
|
NM_001277115.2(DNAH11):c.8699G>A (p.Arg2900Gln)
|
rs534013804
|
0.00004
|
NM_001277115.2(DNAH11):c.882+7A>G
|
rs533700730
|
0.00004
|
NM_001277115.2(DNAH11):c.8878A>G (p.Met2960Val)
|
rs766857244
|
0.00004
|
NM_001277115.2(DNAH11):c.9154G>A (p.Val3052Ile)
|
rs758713187
|
0.00004
|
NM_001277115.2(DNAH11):c.9292C>T (p.Arg3098Cys)
|
rs769695221
|
0.00004
|
NM_001277115.2(DNAH11):c.9745G>A (p.Asp3249Asn)
|
rs537824201
|
0.00004
|
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr)
|
rs568910724
|
0.00004
|
NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys)
|
rs143673459
|
0.00004
|
NM_001369.3(DNAH5):c.5932C>G (p.Pro1978Ala)
|
rs138222058
|
0.00004
|
NM_001369.3(DNAH5):c.9714C>T (p.Ala3238=)
|
rs375561333
|
0.00004
|
NM_001369.3(DNAH5):c.9715G>A (p.Asp3239Asn)
|
rs531401316
|
0.00004
|
NM_001382391.1(CSPP1):c.924-9G>A
|
rs199910808
|
0.00004
|
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly)
|
rs754484224
|
0.00004
|
NM_003611.3(OFD1):c.2523C>T (p.Gly841=)
|
rs757258869
|
0.00004
|
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)
|
rs756793358
|
0.00004
|
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp)
|
rs202213517
|
0.00004
|
NM_012210.4(TRIM32):c.1609C>T (p.Leu537=)
|
rs139275673
|
0.00004
|
NM_014714.4(IFT140):c.2400-13C>T
|
rs558510749
|
0.00004
|
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=)
|
rs528573485
|
0.00004
|
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=)
|
rs368713443
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
NM_015512.5(DNAH1):c.1287-4G>T
|
rs374363260
|
0.00004
|
NM_015512.5(DNAH1):c.1969C>G (p.Pro657Ala)
|
rs199996069
|
0.00004
|
NM_015512.5(DNAH1):c.3694-4C>G
|
rs550254957
|
0.00004
|
NM_015512.5(DNAH1):c.7199-10A>G
|
rs756419759
|
0.00004
|
NM_015662.3(IFT172):c.4628C>T (p.Thr1543Met)
|
rs571220836
|
0.00004
|
NM_015910.7(WDPCP):c.*323A>G
|
rs369149310
|
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_017802.4(DNAAF5):c.2334C>T (p.Asn778=)
|
rs544376163
|
0.00004
|
NM_018076.5(ODAD2):c.423T>C (p.Tyr141=)
|
rs759039864
|
0.00004
|
NM_020779.4(WDR35):c.1053T>C (p.Pro351=)
|
rs74385826
|
0.00004
|
NM_023036.6(DNAI2):c.933G>A (p.Lys311=)
|
rs570168701
|
0.00004
|
NM_031885.5(BBS2):c.744T>C (p.His248=)
|
rs186893286
|
0.00004
|
NM_052844.4(DYNC2I2):c.738C>T (p.Asp246=)
|
rs200687172
|
0.00004
|
NM_144596.4(TTC8):c.145-7G>A
|
rs368220069
|
0.00004
|
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu)
|
rs199708349
|
0.00004
|
NM_147127.5(EVC2):c.1146-5C>G
|
rs746188195
|
0.00004
|
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=)
|
rs372719753
|
0.00004
|
NM_153717.3(EVC):c.*1648T>C
|
rs371788560
|
0.00004
|
NM_153717.3(EVC):c.1269G>A (p.Thr423=)
|
rs551881521
|
0.00004
|
NM_198428.3(BBS9):c.1276-17C>T
|
rs199758277
|
0.00004
|
NM_001034853.2(RPGR):c.1728C>T (p.Ile576=)
|
rs145682975
|
0.00003
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
NM_001173990.3(TMEM216):c.*303C>T
|
rs144613667
|
0.00003
|
NM_001199397.3(NEK1):c.1424C>G (p.Pro475Arg)
|
rs369081861
|
0.00003
|
NM_001206927.2(DNAH8):c.12526-3C>T
|
rs374461538
|
0.00003
|
NM_001206927.2(DNAH8):c.2409G>A (p.Thr803=)
|
rs150073636
|
0.00003
|
NM_001206927.2(DNAH8):c.3419A>G (p.His1140Arg)
|
rs377516809
|
0.00003
|
NM_001277115.2(DNAH11):c.10641A>G (p.Ile3547Met)
|
rs368052967
|
0.00003
|
NM_001277115.2(DNAH11):c.1084G>A (p.Ala362Thr)
|
rs771256529
|
0.00003
|
NM_001277115.2(DNAH11):c.11110T>C (p.Cys3704Arg)
|
rs760659930
|
0.00003
|
NM_001277115.2(DNAH11):c.1133A>C (p.Tyr378Ser)
|
rs375636554
|
0.00003
|
NM_001277115.2(DNAH11):c.11352C>A (p.Phe3784Leu)
|
rs553539918
|
0.00003
|
NM_001277115.2(DNAH11):c.11983G>C (p.Ala3995Pro)
|
rs759909768
|
0.00003
|
NM_001277115.2(DNAH11):c.12100C>G (p.Pro4034Ala)
|
rs759056367
|
0.00003
|
NM_001277115.2(DNAH11):c.12657A>G (p.Thr4219=)
|
rs574488123
|
0.00003
|
NM_001277115.2(DNAH11):c.13254T>C (p.Tyr4418=)
|
rs527548552
|
0.00003
|
NM_001277115.2(DNAH11):c.1794G>T (p.Met598Ile)
|
rs573727689
|
0.00003
|
NM_001277115.2(DNAH11):c.179G>C (p.Arg60Pro)
|
rs757349371
|
0.00003
|
NM_001277115.2(DNAH11):c.1904T>C (p.Met635Thr)
|
rs759046686
|
0.00003
|
NM_001277115.2(DNAH11):c.3134G>A (p.Arg1045Gln)
|
rs754350576
|
0.00003
|
NM_001277115.2(DNAH11):c.4126G>A (p.Val1376Ile)
|
rs531283952
|
0.00003
|
NM_001277115.2(DNAH11):c.4891G>A (p.Val1631Ile)
|
rs766901693
|
0.00003
|
NM_001277115.2(DNAH11):c.4926A>C (p.Lys1642Asn)
|
rs770520414
|
0.00003
|
NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala)
|
rs369965539
|
0.00003
|
NM_001277115.2(DNAH11):c.5936T>C (p.Leu1979Pro)
|
rs772070316
|
0.00003
|
NM_001277115.2(DNAH11):c.5947A>T (p.Ile1983Phe)
|
rs536513593
|
0.00003
|
NM_001277115.2(DNAH11):c.6089T>C (p.Leu2030Ser)
|
rs769169485
|
0.00003
|
NM_001277115.2(DNAH11):c.6500G>A (p.Arg2167Gln)
|
rs760400353
|
0.00003
|
NM_001277115.2(DNAH11):c.6583A>G (p.Lys2195Glu)
|
rs371974305
|
0.00003
|
NM_001277115.2(DNAH11):c.68C>T (p.Ser23Leu)
|
rs745842220
|
0.00003
|
NM_001277115.2(DNAH11):c.7012C>T (p.Arg2338Trp)
|
rs752212501
|
0.00003
|
NM_001277115.2(DNAH11):c.7594A>G (p.Ile2532Val)
|
rs752203815
|
0.00003
|
NM_001277115.2(DNAH11):c.772A>G (p.Ile258Val)
|
rs747435111
|
0.00003
|
NM_001277115.2(DNAH11):c.8275T>C (p.Phe2759Leu)
|
rs148656615
|
0.00003
|
NM_001277115.2(DNAH11):c.8516G>A (p.Arg2839His)
|
rs1253630975
|
0.00003
|
NM_001277115.2(DNAH11):c.8647G>A (p.Glu2883Lys)
|
rs752605468
|
0.00003
|
NM_001277115.2(DNAH11):c.9707G>A (p.Arg3236Gln)
|
rs758030856
|
0.00003
|
NM_001277115.2(DNAH11):c.9818A>C (p.Glu3273Ala)
|
rs753829743
|
0.00003
|
NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys)
|
rs565819640
|
0.00003
|
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)
|
rs576096758
|
0.00003
|
NM_001369.3(DNAH5):c.12857G>A (p.Gly4286Glu)
|
rs185104576
|
0.00003
|
NM_001369.3(DNAH5):c.4331A>G (p.Asn1444Ser)
|
rs567013299
|
0.00003
|
NM_001378454.1(ALMS1):c.12363-18A>C
|
rs199968770
|
0.00003
|
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val)
|
rs192285113
|
0.00003
|
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)
|
rs529916753
|
0.00003
|
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)
|
rs779051357
|
0.00003
|
NM_003611.3(OFD1):c.2953G>A (p.Gly985Ser)
|
rs757837343
|
0.00003
|
NM_003611.3(OFD1):c.688A>G (p.Ile230Val)
|
rs770131832
|
0.00003
|
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser)
|
rs182015909
|
0.00003
|
NM_015910.7(WDPCP):c.76-15T>A
|
rs200557033
|
0.00003
|
NM_017802.4(DNAAF5):c.2024C>T (p.Thr675Met)
|
rs757110526
|
0.00003
|
NM_018139.3(DNAAF2):c.2388C>T (p.His796=)
|
rs140997181
|
0.00003
|
NM_020800.3(IFT80):c.549+16T>C
|
rs554487138
|
0.00003
|
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=)
|
rs368202285
|
0.00003
|
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu)
|
rs576113399
|
0.00003
|
NM_052844.4(DYNC2I2):c.1326C>T (p.Arg442=)
|
rs201202295
|
0.00003
|
NM_152732.5(RSPH9):c.373G>C (p.Val125Leu)
|
rs199874020
|
0.00003
|
NM_153717.3(EVC):c.771A>G (p.Leu257=)
|
rs756340487
|
0.00003
|
NM_198428.3(BBS9):c.1236C>T (p.Asn412=)
|
rs139235142
|
0.00003
|
NM_198428.3(BBS9):c.1606C>T (p.Leu536=)
|
rs576401162
|
0.00003
|
NM_000328.3(RPGR):c.1935A>G (p.Leu645=)
|
rs781266050
|
0.00002
|
NM_000328.3(RPGR):c.1968T>G (p.Ala656=)
|
rs1007967007
|
0.00002
|
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His)
|
rs147708058
|
0.00002
|
NM_001044385.3(TMEM237):c.74+16A>G
|
rs538615771
|
0.00002
|
NM_001206927.2(DNAH8):c.13494G>T (p.Leu4498Phe)
|
rs577421218
|
0.00002
|
NM_001277115.2(DNAH11):c.10158T>C (p.Leu3386=)
|
rs778649796
|
0.00002
|
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=)
|
rs201475447
|
0.00002
|
NM_001277115.2(DNAH11):c.1055C>T (p.Thr352Met)
|
rs200824684
|
0.00002
|
NM_001277115.2(DNAH11):c.10715A>C (p.Glu3572Ala)
|
rs760008915
|
0.00002
|
NM_001277115.2(DNAH11):c.10877C>A (p.Pro3626Gln)
|
rs543364800
|
0.00002
|
NM_001277115.2(DNAH11):c.10967G>A (p.Arg3656His)
|
rs765797284
|
0.00002
|
NM_001277115.2(DNAH11):c.1108C>A (p.Leu370Met)
|
rs189175047
|
0.00002
|
NM_001277115.2(DNAH11):c.11717C>T (p.Ala3906Val)
|
rs200664169
|
0.00002
|
NM_001277115.2(DNAH11):c.1220A>C (p.Asp407Ala)
|
rs780042783
|
0.00002
|
NM_001277115.2(DNAH11):c.12311G>A (p.Arg4104Gln)
|
rs762791304
|
0.00002
|
NM_001277115.2(DNAH11):c.2226A>G (p.Ile742Met)
|
rs1335609772
|
0.00002
|
NM_001277115.2(DNAH11):c.2887A>G (p.Arg963Gly)
|
rs185803317
|
0.00002
|
NM_001277115.2(DNAH11):c.3074A>G (p.Asn1025Ser)
|
rs369273219
|
0.00002
|
NM_001277115.2(DNAH11):c.355C>G (p.Pro119Ala)
|
rs747193364
|
0.00002
|
NM_001277115.2(DNAH11):c.3751T>G (p.Cys1251Gly)
|
rs765674180
|
0.00002
|
NM_001277115.2(DNAH11):c.3803A>G (p.Tyr1268Cys)
|
rs774615886
|
0.00002
|
NM_001277115.2(DNAH11):c.4143G>A (p.Thr1381=)
|
rs757101745
|
0.00002
|
NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=)
|
rs373969291
|
0.00002
|
NM_001277115.2(DNAH11):c.4609A>G (p.Met1537Val)
|
rs371095430
|
0.00002
|
NM_001277115.2(DNAH11):c.4681G>A (p.Val1561Met)
|
rs752129504
|
0.00002
|
NM_001277115.2(DNAH11):c.4886A>G (p.Tyr1629Cys)
|
rs750494795
|
0.00002
|
NM_001277115.2(DNAH11):c.571C>T (p.His191Tyr)
|
rs562163349
|
0.00002
|
NM_001277115.2(DNAH11):c.6203G>A (p.Arg2068His)
|
rs769794431
|
0.00002
|
NM_001277115.2(DNAH11):c.6566G>A (p.Arg2189Gln)
|
rs747789567
|
0.00002
|
NM_001277115.2(DNAH11):c.6717A>G (p.Ser2239=)
|
rs373930042
|
0.00002
|
NM_001277115.2(DNAH11):c.7029G>C (p.Lys2343Asn)
|
rs563161320
|
0.00002
|
NM_001277115.2(DNAH11):c.7214A>G (p.Tyr2405Cys)
|
rs770247041
|
0.00002
|
NM_001277115.2(DNAH11):c.7334C>T (p.Ser2445Leu)
|
rs180970138
|
0.00002
|
NM_001277115.2(DNAH11):c.7580T>C (p.Leu2527Pro)
|
rs1332567966
|
0.00002
|
NM_001277115.2(DNAH11):c.7595T>A (p.Ile2532Lys)
|
rs531303537
|
0.00002
|
NM_001277115.2(DNAH11):c.8270A>T (p.Asp2757Val)
|
rs760372952
|
0.00002
|
NM_001277115.2(DNAH11):c.875A>G (p.Tyr292Cys)
|
rs768404895
|
0.00002
|
NM_001277115.2(DNAH11):c.8972C>T (p.Thr2991Met)
|
rs375595192
|
0.00002
|
NM_001277115.2(DNAH11):c.9434C>T (p.Thr3145Met)
|
rs185195859
|
0.00002
|
NM_001369.3(DNAH5):c.11616C>G (p.Ile3872Met)
|
rs773699669
|
0.00002
|
NM_001369.3(DNAH5):c.12694G>A (p.Asp4232Asn)
|
rs564134623
|
0.00002
|
NM_003611.3(OFD1):c.12+16C>T
|
rs375680703
|
0.00002
|
NM_003611.3(OFD1):c.1400G>A (p.Arg467His)
|
rs375577267
|
0.00002
|
NM_003611.3(OFD1):c.1703G>A (p.Arg568His)
|
rs376012267
|
0.00002
|
NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala)
|
rs775062213
|
0.00002
|
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe)
|
rs149473481
|
0.00002
|
NM_003611.3(OFD1):c.2305A>G (p.Arg769Gly)
|
rs759933503
|
0.00002
|
NM_003611.3(OFD1):c.2327C>G (p.Thr776Ser)
|
rs1602907726
|
0.00002
|
NM_003611.3(OFD1):c.382G>C (p.Val128Leu)
|
rs766600036
|
0.00002
|
NM_003611.3(OFD1):c.569G>A (p.Arg190His)
|
rs150560046
|
0.00002
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
NM_017802.4(DNAAF5):c.1446C>G (p.Ala482=)
|
rs571248637
|
0.00002
|
NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=)
|
rs534912798
|
0.00002
|
NM_018051.5(DYNC2I1):c.1792-7C>A
|
rs548044469
|
0.00002
|
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=)
|
rs529083217
|
0.00002
|
NM_145045.5(ODAD3):c.964-16C>T
|
rs559900157
|
0.00002
|
NM_153704.6(TMEM67):c.2440-6T>C
|
rs532418578
|
0.00002
|
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)
|
rs373718642
|
0.00002
|
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln)
|
rs372685495
|
0.00002
|
NM_176824.3(BBS7):c.639C>T (p.Asp213=)
|
rs150407489
|
0.00002
|
NM_001010892.3(RSPH4A):c.1536G>A (p.Glu512=)
|
rs533664718
|
0.00001
|
NM_001034853.2(RPGR):c.1575A>G (p.Lys525=)
|
rs761895475
|
0.00001
|
NM_001174150.2(ARL13B):c.671G>A (p.Arg224Gln)
|
rs542323478
|
0.00001
|
NM_001190787.3(MCIDAS):c.774C>T (p.Leu258=)
|
rs372120150
|
0.00001
|
NM_001199397.3(NEK1):c.1141-14T>C
|
rs551259813
|
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_001206927.2(DNAH8):c.10173G>A (p.Arg3391=)
|
rs370433159
|
0.00001
|
NM_001256715.2(DNAAF3):c.-59C>T
|
rs376972065
|
0.00001
|
NM_001256715.2(DNAAF3):c.989C>T (p.Thr330Ile)
|
rs545243133
|
0.00001
|
NM_001277115.2(DNAH11):c.10041T>A (p.Asn3347Lys)
|
rs772016314
|
0.00001
|
NM_001277115.2(DNAH11):c.1006G>A (p.Glu336Lys)
|
rs374332166
|
0.00001
|
NM_001277115.2(DNAH11):c.10171A>T (p.Ile3391Phe)
|
rs748425990
|
0.00001
|
NM_001277115.2(DNAH11):c.10183C>G (p.Gln3395Glu)
|
rs759904861
|
0.00001
|
NM_001277115.2(DNAH11):c.1035C>T (p.His345=)
|
rs139391790
|
0.00001
|
NM_001277115.2(DNAH11):c.10483G>A (p.Val3495Met)
|
rs796396920
|
0.00001
|
NM_001277115.2(DNAH11):c.104T>G (p.Leu35Arg)
|
rs1307384309
|
0.00001
|
NM_001277115.2(DNAH11):c.106G>C (p.Glu36Gln)
|
rs943142146
|
0.00001
|
NM_001277115.2(DNAH11):c.107A>G (p.Glu36Gly)
|
rs537596387
|
0.00001
|
NM_001277115.2(DNAH11):c.11255A>C (p.Asp3752Ala)
|
rs767469708
|
0.00001
|
NM_001277115.2(DNAH11):c.11271C>G (p.Ile3757Met)
|
rs757371608
|
0.00001
|
NM_001277115.2(DNAH11):c.11275A>G (p.Ile3759Val)
|
rs1247510142
|
0.00001
|
NM_001277115.2(DNAH11):c.11398G>C (p.Asp3800His)
|
rs553943791
|
0.00001
|
NM_001277115.2(DNAH11):c.11459T>C (p.Val3820Ala)
|
rs760795257
|
0.00001
|
NM_001277115.2(DNAH11):c.11759T>C (p.Phe3920Ser)
|
rs958623389
|
0.00001
|
NM_001277115.2(DNAH11):c.11872A>C (p.Lys3958Gln)
|
rs1360840874
|
0.00001
|
NM_001277115.2(DNAH11):c.11882A>G (p.Asn3961Ser)
|
rs186794216
|
0.00001
|
NM_001277115.2(DNAH11):c.12045T>C (p.Asp4015=)
|
rs537127251
|
0.00001
|
NM_001277115.2(DNAH11):c.12115G>A (p.Glu4039Lys)
|
rs1482639715
|
0.00001
|
NM_001277115.2(DNAH11):c.12329C>A (p.Pro4110His)
|
rs753983449
|
0.00001
|
NM_001277115.2(DNAH11):c.1243G>C (p.Glu415Gln)
|
rs1336566813
|
0.00001
|
NM_001277115.2(DNAH11):c.1263G>T (p.Gln421His)
|
rs1230129876
|
0.00001
|
NM_001277115.2(DNAH11):c.12671C>A (p.Thr4224Asn)
|
rs878854438
|
0.00001
|
NM_001277115.2(DNAH11):c.12925A>G (p.Ser4309Gly)
|
rs1235125251
|
0.00001
|
NM_001277115.2(DNAH11):c.13050-11C>A
|
rs545301825
|
0.00001
|
NM_001277115.2(DNAH11):c.1929A>G (p.Gln643=)
|
rs374406494
|
0.00001
|
NM_001277115.2(DNAH11):c.19G>A (p.Ala7Thr)
|
rs755966311
|
0.00001
|
NM_001277115.2(DNAH11):c.2196A>G (p.Lys732=)
|
rs757207387
|
0.00001
|
NM_001277115.2(DNAH11):c.2297T>C (p.Leu766Pro)
|
rs760763043
|
0.00001
|
NM_001277115.2(DNAH11):c.2327C>T (p.Thr776Met)
|
rs764257309
|
0.00001
|
NM_001277115.2(DNAH11):c.2440G>A (p.Glu814Lys)
|
rs529566924
|
0.00001
|
NM_001277115.2(DNAH11):c.2476A>G (p.Arg826Gly)
|
rs760855822
|
0.00001
|
NM_001277115.2(DNAH11):c.2563C>T (p.His855Tyr)
|
rs1252556407
|
0.00001
|
NM_001277115.2(DNAH11):c.2689G>A (p.Ala897Thr)
|
rs767822847
|
0.00001
|
NM_001277115.2(DNAH11):c.2737G>A (p.Asp913Asn)
|
rs749413158
|
0.00001
|
NM_001277115.2(DNAH11):c.2874A>C (p.Lys958Asn)
|
rs180920616
|
0.00001
|
NM_001277115.2(DNAH11):c.2993A>G (p.Asn998Ser)
|
rs368692202
|
0.00001
|
NM_001277115.2(DNAH11):c.3173C>A (p.Ala1058Asp)
|
rs756753955
|
0.00001
|
NM_001277115.2(DNAH11):c.3220G>A (p.Glu1074Lys)
|
rs765778415
|
0.00001
|
NM_001277115.2(DNAH11):c.3370A>G (p.Ile1124Val)
|
rs752462870
|
0.00001
|
NM_001277115.2(DNAH11):c.346C>G (p.Gln116Glu)
|
rs374802008
|
0.00001
|
NM_001277115.2(DNAH11):c.3497A>C (p.His1166Pro)
|
rs575476197
|
0.00001
|
NM_001277115.2(DNAH11):c.4250T>C (p.Ile1417Thr)
|
rs536675513
|
0.00001
|
NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu)
|
rs753773546
|
0.00001
|
NM_001277115.2(DNAH11):c.4445G>A (p.Gly1482Asp)
|
rs374100278
|
0.00001
|
NM_001277115.2(DNAH11):c.4491G>A (p.Glu1497=)
|
rs564202359
|
0.00001
|
NM_001277115.2(DNAH11):c.4493A>G (p.His1498Arg)
|
rs367779570
|
0.00001
|
NM_001277115.2(DNAH11):c.4772C>T (p.Thr1591Met)
|
rs778000913
|
0.00001
|
NM_001277115.2(DNAH11):c.4805A>G (p.Asp1602Gly)
|
rs548213797
|
0.00001
|
NM_001277115.2(DNAH11):c.5350A>G (p.Ile1784Val)
|
rs764134388
|
0.00001
|
NM_001277115.2(DNAH11):c.5393A>G (p.Lys1798Arg)
|
rs753545876
|
0.00001
|
NM_001277115.2(DNAH11):c.5413A>G (p.Ile1805Val)
|
rs776549742
|
0.00001
|
NM_001277115.2(DNAH11):c.6374A>G (p.Asp2125Gly)
|
rs575139970
|
0.00001
|
NM_001277115.2(DNAH11):c.6383G>A (p.Arg2128Gln)
|
rs544234928
|
0.00001
|
NM_001277115.2(DNAH11):c.6513T>C (p.Phe2171=)
|
rs377635623
|
0.00001
|
NM_001277115.2(DNAH11):c.6603T>A (p.Asn2201Lys)
|
rs760775359
|
0.00001
|
NM_001277115.2(DNAH11):c.6766A>G (p.Ile2256Val)
|
rs765220793
|
0.00001
|
NM_001277115.2(DNAH11):c.684A>G (p.Ser228=)
|
rs886062171
|
0.00001
|
NM_001277115.2(DNAH11):c.6867A>G (p.Ala2289=)
|
rs745494770
|
0.00001
|
NM_001277115.2(DNAH11):c.7052A>G (p.Asp2351Gly)
|
rs566386080
|
0.00001
|
NM_001277115.2(DNAH11):c.7273G>C (p.Asp2425His)
|
rs374151422
|
0.00001
|
NM_001277115.2(DNAH11):c.7379A>G (p.Lys2460Arg)
|
rs770671851
|
0.00001
|
NM_001277115.2(DNAH11):c.7462G>C (p.Glu2488Gln)
|
rs757560427
|
0.00001
|
NM_001277115.2(DNAH11):c.793C>T (p.Arg265Cys)
|
rs769397639
|
0.00001
|
NM_001277115.2(DNAH11):c.7989C>T (p.Ser2663=)
|
rs374678451
|
0.00001
|
NM_001277115.2(DNAH11):c.8223A>G (p.Glu2741=)
|
rs371453443
|
0.00001
|
NM_001277115.2(DNAH11):c.8255A>T (p.Asp2752Val)
|
rs768309014
|
0.00001
|
NM_001277115.2(DNAH11):c.8534G>A (p.Arg2845Gln)
|
rs372633683
|
0.00001
|
NM_001277115.2(DNAH11):c.8680C>G (p.Leu2894Val)
|
rs778125255
|
0.00001
|
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=)
|
rs201934527
|
0.00001
|
NM_001277115.2(DNAH11):c.9176A>C (p.Tyr3059Ser)
|
rs781116833
|
0.00001
|
NM_001277115.2(DNAH11):c.941A>G (p.Tyr314Cys)
|
rs374176081
|
0.00001
|
NM_001277115.2(DNAH11):c.9655A>G (p.Thr3219Ala)
|
rs1166321526
|
0.00001
|
NM_001277115.2(DNAH11):c.9686G>A (p.Arg3229Gln)
|
rs372970766
|
0.00001
|
NM_001277115.2(DNAH11):c.9839A>C (p.Glu3280Ala)
|
rs747943621
|
0.00001
|
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=)
|
rs574658488
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3802G>A
|
rs541632685
|
0.00001
|
NM_001364171.2(ODAD1):c.565C>T (p.Arg189Cys)
|
rs538588580
|
0.00001
|
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=)
|
rs188428209
|
0.00001
|
NM_001369.3(DNAH5):c.40G>A (p.Val14Ile)
|
rs1015850611
|
0.00001
|
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His)
|
rs200994058
|
0.00001
|
NM_001369.3(DNAH5):c.7484C>T (p.Ala2495Val)
|
rs768364281
|
0.00001
|
NM_001369.3(DNAH5):c.799-11C>T
|
rs371868451
|
0.00001
|
NM_001377.3(DYNC2H1):c.5335-14A>G
|
rs372488002
|
0.00001
|
NM_001377.3(DYNC2H1):c.8946+10A>C
|
rs550521675
|
0.00001
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
NM_001378454.1(ALMS1):c.12115-17T>C
|
rs1336665759
|
0.00001
|
NM_001378454.1(ALMS1):c.12298+5G>A
|
rs371853987
|
0.00001
|
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg)
|
rs556855697
|
0.00001
|
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)
|
rs546111188
|
0.00001
|
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)
|
rs563393715
|
0.00001
|
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=)
|
rs370267673
|
0.00001
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=)
|
rs199923715
|
0.00001
|
NM_003611.3(OFD1):c.1479A>C (p.Ile493=)
|
rs746039988
|
0.00001
|
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile)
|
rs780521580
|
0.00001
|
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)
|
rs773224811
|
0.00001
|
NM_003611.3(OFD1):c.2559C>T (p.Asp853=)
|
rs1398505825
|
0.00001
|
NM_003611.3(OFD1):c.359C>T (p.Thr120Ile)
|
rs777207192
|
0.00001
|
NM_003611.3(OFD1):c.788G>A (p.Arg263Gln)
|
rs146279923
|
0.00001
|
NM_003611.3(OFD1):c.984T>G (p.Leu328=)
|
rs61734977
|
0.00001
|
NM_012144.4(DNAI1):c.81+20T>C
|
rs572257884
|
0.00001
|
NM_014956.5(CEP164):c.3147G>A (p.Glu1049=)
|
rs575735586
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1808G>A (p.Gly603Asp)
|
rs537925312
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1944G>A (p.Val648=)
|
rs532450170
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile)
|
rs532768944
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg)
|
rs766357656
|
0.00001
|
NM_015512.5(DNAH1):c.1572C>T (p.Thr524=)
|
rs565874512
|
0.00001
|
NM_015512.5(DNAH1):c.1854A>C (p.Ser618=)
|
rs374578700
|
0.00001
|
NM_015512.5(DNAH1):c.4353G>A (p.Glu1451=)
|
rs560651490
|
0.00001
|
NM_015512.5(DNAH1):c.7545C>T (p.Tyr2515=)
|
rs368503214
|
0.00001
|
NM_015512.5(DNAH1):c.8538A>G (p.Val2846=)
|
rs538052520
|
0.00001
|
NM_015631.6(TCTN3):c.324C>T (p.Asp108=)
|
rs566756038
|
0.00001
|
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)
|
rs544657165
|
0.00001
|
NM_017802.4(DNAAF5):c.717C>T (p.Asn239=)
|
rs569560572
|
0.00001
|
NM_017950.4(CCDC40):c.855+10C>T
|
rs376261068
|
0.00001
|
NM_018076.5(ODAD2):c.1248T>G (p.Ala416=)
|
rs75389371
|
0.00001
|
NM_020779.4(WDR35):c.1845+16G>A
|
rs376710057
|
0.00001
|
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu)
|
rs184680258
|
0.00001
|
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly)
|
rs554335278
|
0.00001
|
NM_020800.3(IFT80):c.259+18A>G
|
rs555123804
|
0.00001
|
NM_023036.6(DNAI2):c.1347+13T>G
|
rs534223470
|
0.00001
|
NM_023036.6(DNAI2):c.1530G>A (p.Leu510=)
|
rs747447796
|
0.00001
|
NM_024649.5(BBS1):c.433-5C>T
|
rs542052064
|
0.00001
|
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)
|
rs771355732
|
0.00001
|
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu)
|
rs539769126
|
0.00001
|
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala)
|
rs568969576
|
0.00001
|
NM_025114.4(CEP290):c.2587-19T>C
|
rs755086278
|
0.00001
|
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)
|
rs185178790
|
0.00001
|
NM_031924.8(RSPH3):c.804G>A (p.Pro268=)
|
rs200370157
|
0.00001
|
NM_033028.5(BBS4):c.17T>C (p.Val6Ala)
|
rs113994185
|
0.00001
|
NM_033028.5(BBS4):c.18C>T (p.Val6=)
|
rs113994187
|
0.00001
|
NM_033028.5(BBS4):c.20C>T (p.Ala7Val)
|
rs113994186
|
0.00001
|
NM_033028.5(BBS4):c.42A>G (p.Val14=)
|
rs113994181
|
0.00001
|
NM_033028.5(BBS4):c.91A>G (p.Ile31Val)
|
rs113994182
|
0.00001
|
NM_033124.5(CCDC65):c.609+14G>A
|
rs202100898
|
0.00001
|
NM_145038.5(DRC1):c.1509+15G>A
|
rs558819282
|
0.00001
|
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp)
|
rs571637567
|
0.00001
|
NM_178452.6(DNAAF1):c.112G>A (p.Gly38Ser)
|
rs551990619
|
0.00001
|
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu)
|
rs565633539
|
0.00001
|
NC_000016.9:g.(?_75573892)_(75575373_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75576601_?)dup
|
|
|
NM_000328.3(RPGR):c.1906-8del
|
|
|
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu)
|
rs771791722
|
|
NM_000328.3(RPGR):c.2242-6dup
|
|
|
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu)
|
rs766828733
|
|
NM_001023570.4(IQCB1):c.*197G>C
|
rs1135750
|
|
NM_001023570.4(IQCB1):c.-147_-142del
|
rs72421117
|
|
NM_001023570.4(IQCB1):c.1410+74AT[4]
|
rs1553709033
|
|
NM_001023570.4(IQCB1):c.1410+81GT[17]
|
rs57816005
|
|
NM_001034853.2(RPGR):c.1105C>T (p.Arg369Cys)
|
rs768571911
|
|
NM_001034853.2(RPGR):c.1415-17C>G
|
|
|
NM_001034853.2(RPGR):c.1507-12del
|
rs759448363
|
|
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
|
NM_001034853.2(RPGR):c.2331GGA[1] (p.Glu779del)
|
rs201730068
|
|
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[1] (p.829EEEEGEG[3])
|
rs751710678
|
|
NM_001034853.2(RPGR):c.2667_2669del (p.Glu890del)
|
rs199663434
|
|
NM_001034853.2(RPGR):c.28+10G>C
|
|
|
NM_001034853.2(RPGR):c.2820_2840dup (p.Asp943_Glu949dup)
|
rs764268405
|
|
NM_001034853.2(RPGR):c.3060_3071del (p.1021_1024VEGE[1])
|
rs199896738
|
|
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[1] (p.1021VEGE[1])
|
rs201134185
|
|
NM_001034853.2(RPGR):c.3116_3118del (p.Gly1039del)
|
rs200211905
|
|
NM_001034853.2(RPGR):c.3293G>A (p.Gly1098Asp)
|
|
|
NM_001034853.2(RPGR):c.3371T>A (p.Val1124Asp)
|
|
|
NM_001034853.2(RPGR):c.444A>T (p.Gly148=)
|
|
|
NM_001034853.2(RPGR):c.9G>A (p.Glu3=)
|
|
|
NM_001044385.3(TMEM237):c.1159+17del
|
rs766664373
|
|
NM_001044385.3(TMEM237):c.1159+17dup
|
|
|
NM_001044385.3(TMEM237):c.678-20_678-17del
|
rs754336127
|
|
NM_001044385.3(TMEM237):c.80-18dup
|
rs747217784
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
NM_001082538.3(TCTN1):c.1636-18TC[2]
|
rs201913681
|
|
NM_001082538.3(TCTN1):c.221-7dup
|
rs768471137
|
|
NM_001082538.3(TCTN1):c.473-10del
|
rs771463400
|
|
NM_001082538.3(TCTN1):c.473-10dup
|
rs771463400
|
|
NM_001082538.3(TCTN1):c.473-4dup
|
|
|
NM_001134831.2(AHI1):c.*1051ATTT[1]
|
rs144339517
|
|
NM_001134831.2(AHI1):c.*28G>C
|
rs9494209
|
|
NM_001134831.2(AHI1):c.1151+12del
|
|
|
NM_001134831.2(AHI1):c.1151+12dup
|
|
|
NM_001134831.2(AHI1):c.1152-7dup
|
rs773371042
|
|
NM_001134831.2(AHI1):c.1152-8_1152-7del
|
|
|
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln)
|
rs545841352
|
|
NM_001134831.2(AHI1):c.2037-77G>A
|
rs737561
|
|
NM_001134831.2(AHI1):c.2267-13dup
|
rs2128017037
|
|
NM_001134831.2(AHI1):c.2374-12del
|
rs766929085
|
|
NM_001134831.2(AHI1):c.2493-9dup
|
|
|
NM_001134831.2(AHI1):c.2989-11del
|
rs397775233
|
|
NM_001134831.2(AHI1):c.3109+9del
|
|
|
NM_001134831.2(AHI1):c.3110-22_3110-19del
|
rs71725890
|
|
NM_001134831.2(AHI1):c.3485+13_3485+15del
|
rs540849894
|
|
NM_001134831.2(AHI1):c.459A>C (p.Thr153=)
|
rs531024131
|
|
NM_001134831.2(AHI1):c.932-13del
|
rs753114452
|
|
NM_001134831.2(AHI1):c.932-21dup
|
rs753114452
|
|
NM_001173990.3(TMEM216):c.*6A>G
|
rs541341560
|
|
NM_001173990.3(TMEM216):c.-24C>G
|
rs59493015
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.432-10G>C
|
rs768069891
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001173990.3:c.432-11_432-10insA
|
|
|
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly)
|
rs529580146
|
|
NM_001174150.2(ARL13B):c.486+22del
|
rs368491848
|
|
NM_001174150.2(ARL13B):c.486+22dup
|
rs368491848
|
|
NM_001174150.2(ARL13B):c.59+20C>T
|
|
|
NM_001190787.3(MCIDAS):c.121-19C>A
|
rs181955833
|
|
NM_001199397.3(NEK1):c.1081-8dup
|
rs398124255
|
|
NM_001199397.3(NEK1):c.2206-11G>A
|
|
|
NM_001199397.3(NEK1):c.2588-12_2588-11del
|
rs374055570
|
|
NM_001199397.3(NEK1):c.3374+10A>T
|
|
|
NM_001199397.3(NEK1):c.3848-14dup
|
rs1171520560
|
|
NM_001199397.3(NEK1):c.397-15del
|
rs199717920
|
|
NM_001199397.3(NEK1):c.397-15dup
|
rs199717920
|
|
NM_001199397.3(NEK1):c.807+18T>C
|
|
|
NM_001206927.2(DNAH8):c.10525-11C>T
|
|
|
NM_001206927.2(DNAH8):c.10662+20dup
|
rs772003827
|
|
NM_001206927.2(DNAH8):c.10795G>T (p.Val3599Leu)
|
rs150171166
|
|
NM_001206927.2(DNAH8):c.12951+23dup
|
rs1196316242
|
|
NM_001206927.2(DNAH8):c.13715-8del
|
|
|
NM_001206927.2(DNAH8):c.13896G>A (p.Gly4632=)
|
|
|
NM_001206927.2(DNAH8):c.1515+18G>A
|
|
|
NM_001206927.2(DNAH8):c.1975G>A (p.Ala659Thr)
|
rs61748601
|
|
NM_001206927.2(DNAH8):c.2259+21del
|
|
|
NM_001206927.2(DNAH8):c.2665-8G>A
|
|
|
NM_001206927.2(DNAH8):c.2853G>T (p.Leu951=)
|
|
|
NM_001206927.2(DNAH8):c.3294C>A (p.Ser1098=)
|
rs1678690
|
|
NM_001206927.2(DNAH8):c.3294C>G (p.Ser1098=)
|
rs1678690
|
|
NM_001206927.2(DNAH8):c.4083+24_4083+25dup
|
|
|
NM_001206927.2(DNAH8):c.4083+25del
|
rs34231573
|
|
NM_001206927.2(DNAH8):c.4083+25dup
|
rs34231573
|
|
NM_001206927.2(DNAH8):c.4365+19del
|
|
|
NM_001206927.2(DNAH8):c.5958+19del
|
rs753808577
|
|
NM_001206927.2(DNAH8):c.5958+19dup
|
|
|
NM_001206927.2(DNAH8):c.6131+19G>A
|
rs527849962
|
|
NM_001206927.2(DNAH8):c.6131+25dup
|
rs34840510
|
|
NM_001206927.2(DNAH8):c.6498+11del
|
|
|
NM_001206927.2(DNAH8):c.7479+6dup
|
rs2150435501
|
|
NM_001206927.2(DNAH8):c.7620+15del
|
rs558170060
|
|
NM_001206927.2(DNAH8):c.7620+15dup
|
rs558170060
|
|
NM_001206927.2(DNAH8):c.8748-9del
|
|
|
NM_001206927.2(DNAH8):c.953-10del
|
|
|
NM_001206927.2(DNAH8):c.9859+7GGAAT[2]
|
rs878854276
|
|
NM_001256715.2(DNAAF3):c.1048+14_1048+34del
|
rs6146559
|
|
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)
|
rs890872
|
|
NM_001256715.2(DNAAF3):c.1163+10G>T
|
rs200324983
|
|
NM_001270974.2(HYDIN):c.7681_7683del (p.Glu2561del)
|
rs767644077
|
|
NM_001277115.2(DNAH11):c.10005G>C (p.Glu3335Asp)
|
|
|
NM_001277115.2(DNAH11):c.10009A>G (p.Ile3337Val)
|
|
|
NM_001277115.2(DNAH11):c.10012A>G (p.Arg3338Gly)
|
|
|
NM_001277115.2(DNAH11):c.10017A>G (p.Lys3339=)
|
|
|
NM_001277115.2(DNAH11):c.10037G>A (p.Arg3346Gln)
|
|
|
NM_001277115.2(DNAH11):c.10053C>G (p.Leu3351=)
|
|
|
NM_001277115.2(DNAH11):c.10056G>A (p.Thr3352=)
|
|
|
NM_001277115.2(DNAH11):c.10064T>C (p.Phe3355Ser)
|
|
|
NM_001277115.2(DNAH11):c.10090C>T (p.Arg3364Trp)
|
|
|
NM_001277115.2(DNAH11):c.10091G>A (p.Arg3364Gln)
|
|
|
NM_001277115.2(DNAH11):c.10099G>C (p.Glu3367Gln)
|
|
|
NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu)
|
rs398123604
|
|
NM_001277115.2(DNAH11):c.10111C>G (p.Gln3371Glu)
|
|
|
NM_001277115.2(DNAH11):c.10118A>G (p.Asn3373Ser)
|
|
|
NM_001277115.2(DNAH11):c.10165+12del
|
|
|
NM_001277115.2(DNAH11):c.10222T>C (p.Cys3408Arg)
|
|
|
NM_001277115.2(DNAH11):c.10261G>A (p.Val3421Ile)
|
|
|
NM_001277115.2(DNAH11):c.10280A>C (p.Gln3427Pro)
|
|
|
NM_001277115.2(DNAH11):c.1029G>A (p.Arg343=)
|
|
|
NM_001277115.2(DNAH11):c.102G>A (p.Glu34=)
|
|
|
NM_001277115.2(DNAH11):c.10303T>A (p.Cys3435Ser)
|
|
|
NM_001277115.2(DNAH11):c.10308G>A (p.Lys3436=)
|
|
|
NM_001277115.2(DNAH11):c.10312G>A (p.Val3438Ile)
|
|
|
NM_001277115.2(DNAH11):c.10317C>G (p.Pro3439=)
|
|
|
NM_001277115.2(DNAH11):c.10326A>G (p.Gln3442=)
|
|
|
NM_001277115.2(DNAH11):c.10328A>G (p.Gln3443Arg)
|
|
|
NM_001277115.2(DNAH11):c.10348A>T (p.Thr3450Ser)
|
|
|
NM_001277115.2(DNAH11):c.10351G>A (p.Glu3451Lys)
|
|
|
NM_001277115.2(DNAH11):c.10352A>G (p.Glu3451Gly)
|
|
|
NM_001277115.2(DNAH11):c.10354G>C (p.Gly3452Arg)
|
|
|
NM_001277115.2(DNAH11):c.10372A>G (p.Met3458Val)
|
|
|
NM_001277115.2(DNAH11):c.10379C>T (p.Thr3460Met)
|
rs573384750
|
|
NM_001277115.2(DNAH11):c.10386T>C (p.Asp3462=)
|
|
|
NM_001277115.2(DNAH11):c.10387G>A (p.Ala3463Thr)
|
|
|
NM_001277115.2(DNAH11):c.10392A>G (p.Thr3464=)
|
|
|
NM_001277115.2(DNAH11):c.10393A>G (p.Ile3465Val)
|
|
|
NM_001277115.2(DNAH11):c.10395T>A (p.Ile3465=)
|
|
|
NM_001277115.2(DNAH11):c.10399G>T (p.Ala3467Ser)
|
|
|
NM_001277115.2(DNAH11):c.10406A>G (p.Asn3469Ser)
|
|
|
NM_001277115.2(DNAH11):c.1042T>C (p.Cys348Arg)
|
|
|
NM_001277115.2(DNAH11):c.10431A>C (p.Arg3477Ser)
|
|
|
NM_001277115.2(DNAH11):c.10456C>G (p.Leu3486Val)
|
|
|
NM_001277115.2(DNAH11):c.10463A>G (p.His3488Arg)
|
|
|
NM_001277115.2(DNAH11):c.10471C>T (p.Arg3491Cys)
|
|
|
NM_001277115.2(DNAH11):c.10530T>C (p.Tyr3510=)
|
|
|
NM_001277115.2(DNAH11):c.10550C>G (p.Thr3517Arg)
|
|
|
NM_001277115.2(DNAH11):c.10559G>A (p.Gly3520Asp)
|
|
|
NM_001277115.2(DNAH11):c.10580C>T (p.Ala3527Val)
|
|
|
NM_001277115.2(DNAH11):c.10581C>T (p.Ala3527=)
|
|
|
NM_001277115.2(DNAH11):c.10618A>G (p.Ile3540Val)
|
|
|
NM_001277115.2(DNAH11):c.10629C>T (p.Leu3543=)
|
|
|
NM_001277115.2(DNAH11):c.10630G>A (p.Glu3544Lys)
|
|
|
NM_001277115.2(DNAH11):c.10638G>A (p.Thr3546=)
|
|
|
NM_001277115.2(DNAH11):c.10645C>A (p.Pro3549Thr)
|
|
|
NM_001277115.2(DNAH11):c.10651C>G (p.Leu3551Val)
|
|
|
NM_001277115.2(DNAH11):c.10669A>G (p.Arg3557Gly)
|
|
|
NM_001277115.2(DNAH11):c.10673A>G (p.Asn3558Ser)
|
|
|
NM_001277115.2(DNAH11):c.106GAG[4] (p.Glu40del)
|
rs754826899
|
|
NM_001277115.2(DNAH11):c.10725T>C (p.Phe3575=)
|
|
|
NM_001277115.2(DNAH11):c.1072C>T (p.Arg358Cys)
|
rs749125298
|
|
NM_001277115.2(DNAH11):c.10743T>C (p.Leu3581=)
|
|
|
NM_001277115.2(DNAH11):c.10758A>T (p.Lys3586Asn)
|
|
|
NM_001277115.2(DNAH11):c.10771C>T (p.His3591Tyr)
|
|
|
NM_001277115.2(DNAH11):c.10783G>A (p.Glu3595Lys)
|
|
|
NM_001277115.2(DNAH11):c.1078T>A (p.Leu360Ile)
|
|
|
NM_001277115.2(DNAH11):c.10829A>T (p.Asp3610Val)
|
|
|
NM_001277115.2(DNAH11):c.10831G>A (p.Gly3611Ser)
|
|
|
NM_001277115.2(DNAH11):c.1083C>T (p.Ile361=)
|
|
|
NM_001277115.2(DNAH11):c.10864A>C (p.Ser3622Arg)
|
|
|
NM_001277115.2(DNAH11):c.10879G>A (p.Asp3627Asn)
|
|
|
NM_001277115.2(DNAH11):c.10887G>A (p.Glu3629=)
|
|
|
NM_001277115.2(DNAH11):c.10943A>G (p.Tyr3648Cys)
|
|
|
NM_001277115.2(DNAH11):c.10944T>C (p.Tyr3648=)
|
|
|
NM_001277115.2(DNAH11):c.10977G>A (p.Ala3659=)
|
|
|
NM_001277115.2(DNAH11):c.10983G>A (p.Glu3661=)
|
|
|
NM_001277115.2(DNAH11):c.11029A>G (p.Thr3677Ala)
|
|
|
NM_001277115.2(DNAH11):c.11039C>T (p.Thr3680Ile)
|
|
|
NM_001277115.2(DNAH11):c.11067T>A (p.Ile3689=)
|
|
|
NM_001277115.2(DNAH11):c.11069A>C (p.Glu3690Ala)
|
|
|
NM_001277115.2(DNAH11):c.11074A>G (p.Lys3692Glu)
|
|
|
NM_001277115.2(DNAH11):c.11105G>A (p.Arg3702Gln)
|
|
|
NM_001277115.2(DNAH11):c.1113C>G (p.Ile371Met)
|
|
|
NM_001277115.2(DNAH11):c.11158A>T (p.Asn3720Tyr)
|
|
|
NM_001277115.2(DNAH11):c.11173A>G (p.Ile3725Val)
|
|
|
NM_001277115.2(DNAH11):c.11178C>T (p.Asn3726=)
|
|
|
NM_001277115.2(DNAH11):c.11187C>T (p.Tyr3729=)
|
|
|
NM_001277115.2(DNAH11):c.11190A>G (p.Gln3730=)
|
|
|
NM_001277115.2(DNAH11):c.11202+7C>A
|
rs73279826
|
|
NM_001277115.2(DNAH11):c.11211C>T (p.Asn3737=)
|
|
|
NM_001277115.2(DNAH11):c.11228C>T (p.Ala3743Val)
|
|
|
NM_001277115.2(DNAH11):c.11232C>G (p.Ile3744Met)
|
rs201120788
|
|
NM_001277115.2(DNAH11):c.11276T>A (p.Ile3759Asn)
|
|
|
NM_001277115.2(DNAH11):c.11284G>C (p.Glu3762Gln)
|
|
|
NM_001277115.2(DNAH11):c.11334G>A (p.Glu3778=)
|
|
|
NM_001277115.2(DNAH11):c.11373+17C>T
|
rs563884334
|
|
NM_001277115.2(DNAH11):c.1138A>C (p.Thr380Pro)
|
|
|
NM_001277115.2(DNAH11):c.11396T>C (p.Ile3799Thr)
|
|
|
NM_001277115.2(DNAH11):c.1139C>T (p.Thr380Ile)
|
|
|
NM_001277115.2(DNAH11):c.11400C>T (p.Asp3800=)
|
|
|
NM_001277115.2(DNAH11):c.11426G>A (p.Arg3809Gln)
|
|
|
NM_001277115.2(DNAH11):c.11442C>G (p.His3814Gln)
|
|
|
NM_001277115.2(DNAH11):c.11446C>T (p.His3816Tyr)
|
|
|
NM_001277115.2(DNAH11):c.1148G>A (p.Arg383Gln)
|
|
|
NM_001277115.2(DNAH11):c.11534G>A (p.Arg3845Gln)
|
rs371438607
|
|
NM_001277115.2(DNAH11):c.11538T>A (p.Asp3846Glu)
|
|
|
NM_001277115.2(DNAH11):c.1153A>T (p.Ile385Leu)
|
|
|
NM_001277115.2(DNAH11):c.11552C>T (p.Ala3851Val)
|
|
|
NM_001277115.2(DNAH11):c.11580C>T (p.Ser3860=)
|
|
|
NM_001277115.2(DNAH11):c.1159T>G (p.Leu387Val)
|
|
|
NM_001277115.2(DNAH11):c.11647C>T (p.Leu3883Phe)
|
|
|
NM_001277115.2(DNAH11):c.11659A>G (p.Met3887Val)
|
|
|
NM_001277115.2(DNAH11):c.11679G>A (p.Thr3893=)
|
|
|
NM_001277115.2(DNAH11):c.11683G>A (p.Ala3895Thr)
|
|
|
NM_001277115.2(DNAH11):c.11691-20dup
|
rs5882827
|
|
NM_001277115.2(DNAH11):c.11735C>T (p.Thr3912Ile)
|
|
|
NM_001277115.2(DNAH11):c.11739A>G (p.Arg3913=)
|
|
|
NM_001277115.2(DNAH11):c.11740T>C (p.Leu3914=)
|
|
|
NM_001277115.2(DNAH11):c.11745C>T (p.Asp3915=)
|
|
|
NM_001277115.2(DNAH11):c.11760C>A (p.Phe3920Leu)
|
|
|
NM_001277115.2(DNAH11):c.11761G>A (p.Glu3921Lys)
|
|
|
NM_001277115.2(DNAH11):c.11820T>A (p.Leu3940=)
|
|
|
NM_001277115.2(DNAH11):c.11867C>G (p.Ser3956Cys)
|
|
|
NM_001277115.2(DNAH11):c.11873A>G (p.Lys3958Arg)
|
|
|
NM_001277115.2(DNAH11):c.11875T>G (p.Phe3959Val)
|
|
|
NM_001277115.2(DNAH11):c.1187T>A (p.Ile396Asn)
|
|
|
NM_001277115.2(DNAH11):c.11909C>T (p.Thr3970Met)
|
|
|
NM_001277115.2(DNAH11):c.11926C>T (p.Leu3976=)
|
|
|
NM_001277115.2(DNAH11):c.12025A>G (p.Ser4009Gly)
|
|
|
NM_001277115.2(DNAH11):c.12050G>A (p.Arg4017Lys)
|
|
|
NM_001277115.2(DNAH11):c.12052G>A (p.Val4018Ile)
|
rs578153138
|
|
NM_001277115.2(DNAH11):c.12058A>G (p.Met4020Val)
|
|
|
NM_001277115.2(DNAH11):c.12088G>A (p.Glu4030Lys)
|
|
|
NM_001277115.2(DNAH11):c.12143C>A (p.Pro4048His)
|
|
|
NM_001277115.2(DNAH11):c.12148A>G (p.Thr4050Ala)
|
|
|
NM_001277115.2(DNAH11):c.12165T>A (p.Asn4055Lys)
|
|
|
NM_001277115.2(DNAH11):c.12196-6del
|
|
|
NM_001277115.2(DNAH11):c.12196-6dup
|
|
|
NM_001277115.2(DNAH11):c.12205G>C (p.Glu4069Gln)
|
|
|
NM_001277115.2(DNAH11):c.12258C>T (p.Tyr4086=)
|
|
|
NM_001277115.2(DNAH11):c.12264C>T (p.His4088=)
|
|
|
NM_001277115.2(DNAH11):c.12288G>T (p.Arg4096Ser)
|
|
|
NM_001277115.2(DNAH11):c.12296C>G (p.Pro4099Arg)
|
|
|
NM_001277115.2(DNAH11):c.12317A>T (p.Tyr4106Phe)
|
|
|
NM_001277115.2(DNAH11):c.12344T>C (p.Ile4115Thr)
|
|
|
NM_001277115.2(DNAH11):c.12365A>G (p.Asn4122Ser)
|
|
|
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile)
|
rs12537531
|
|
NM_001277115.2(DNAH11):c.12582C>T (p.Tyr4194=)
|
|
|
NM_001277115.2(DNAH11):c.12592A>C (p.Met4198Leu)
|
|
|
NM_001277115.2(DNAH11):c.12607A>G (p.Ser4203Gly)
|
|
|
NM_001277115.2(DNAH11):c.12616C>T (p.Leu4206=)
|
|
|
NM_001277115.2(DNAH11):c.12624C>A (p.Gly4208=)
|
|
|
NM_001277115.2(DNAH11):c.1264G>A (p.Val422Met)
|
|
|
NM_001277115.2(DNAH11):c.12670A>G (p.Thr4224Ala)
|
|
|
NM_001277115.2(DNAH11):c.12673C>G (p.Leu4225Val)
|
rs777887934
|
|
NM_001277115.2(DNAH11):c.12675C>T (p.Leu4225=)
|
|
|
NM_001277115.2(DNAH11):c.12676T>C (p.Phe4226Leu)
|
|
|
NM_001277115.2(DNAH11):c.12718G>A (p.Gly4240Ser)
|
|
|
NM_001277115.2(DNAH11):c.12723T>C (p.Asp4241=)
|
|
|
NM_001277115.2(DNAH11):c.1275C>T (p.Asn425=)
|
|
|
NM_001277115.2(DNAH11):c.12766G>A (p.Asp4256Asn)
|
|
|
NM_001277115.2(DNAH11):c.12771C>T (p.Asp4257=)
|
|
|
NM_001277115.2(DNAH11):c.12789A>G (p.Pro4263=)
|
|
|
NM_001277115.2(DNAH11):c.12825T>A (p.Asn4275Lys)
|
|
|
NM_001277115.2(DNAH11):c.12827C>T (p.Ser4276Leu)
|
|
|
NM_001277115.2(DNAH11):c.12829A>G (p.Asn4277Asp)
|
|
|
NM_001277115.2(DNAH11):c.12835A>G (p.Ser4279Gly)
|
|
|
NM_001277115.2(DNAH11):c.12852T>G (p.Val4284=)
|
|
|
NM_001277115.2(DNAH11):c.12890G>A (p.Arg4297Gln)
|
|
|
NM_001277115.2(DNAH11):c.12901A>G (p.Ile4301Val)
|
|
|
NM_001277115.2(DNAH11):c.12934-12dup
|
|
|
NM_001277115.2(DNAH11):c.12979T>C (p.Leu4327=)
|
|
|
NM_001277115.2(DNAH11):c.12984T>C (p.Ser4328=)
|
|
|
NM_001277115.2(DNAH11):c.129G>A (p.Glu43=)
|
|
|
NM_001277115.2(DNAH11):c.13046A>G (p.Gln4349Arg)
|
|
|
NM_001277115.2(DNAH11):c.1304T>A (p.Phe435Tyr)
|
|
|
NM_001277115.2(DNAH11):c.13050-20T>A
|
|
|
NM_001277115.2(DNAH11):c.13054A>T (p.Asn4352Tyr)
|
|
|
NM_001277115.2(DNAH11):c.13065C>T (p.Leu4355=)
|
|
|
NM_001277115.2(DNAH11):c.13075C>G (p.Arg4359Gly)
|
rs774903187
|
|
NM_001277115.2(DNAH11):c.13083C>T (p.Leu4361=)
|
|
|
NM_001277115.2(DNAH11):c.13084G>A (p.Asp4362Asn)
|
|
|
NM_001277115.2(DNAH11):c.13084G>C (p.Asp4362His)
|
|
|
NM_001277115.2(DNAH11):c.13088C>T (p.Thr4363Ile)
|
|
|
NM_001277115.2(DNAH11):c.13096C>G (p.Gln4366Glu)
|
|
|
NM_001277115.2(DNAH11):c.13100A>G (p.Asp4367Gly)
|
|
|
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=)
|
rs56333627
|
|
NM_001277115.2(DNAH11):c.13134C>G (p.Gly4378=)
|
|
|
NM_001277115.2(DNAH11):c.13163-10_13163-7dup
|
rs528000635
|
|
NM_001277115.2(DNAH11):c.13167C>A (p.Ile4389=)
|
|
|
NM_001277115.2(DNAH11):c.13170G>A (p.Met4390Ile)
|
|
|
NM_001277115.2(DNAH11):c.13177A>G (p.Met4393Val)
|
|
|
NM_001277115.2(DNAH11):c.13184G>A (p.Arg4395Gln)
|
rs368249392
|
|
NM_001277115.2(DNAH11):c.1319A>T (p.Lys440Ile)
|
|
|
NM_001277115.2(DNAH11):c.131A>C (p.Glu44Ala)
|
|
|
NM_001277115.2(DNAH11):c.13203G>A (p.Leu4401=)
|
|
|
NM_001277115.2(DNAH11):c.13214G>A (p.Arg4405His)
|
|
|
NM_001277115.2(DNAH11):c.13232C>T (p.Thr4411Ile)
|
|
|
NM_001277115.2(DNAH11):c.13261C>T (p.Pro4421Ser)
|
|
|
NM_001277115.2(DNAH11):c.13263G>C (p.Pro4421=)
|
rs72658834
|
|
NM_001277115.2(DNAH11):c.13272A>C (p.Glu4424Asp)
|
|
|
NM_001277115.2(DNAH11):c.13282C>T (p.Leu4428Phe)
|
|
|
NM_001277115.2(DNAH11):c.13287C>T (p.His4429=)
|
|
|
NM_001277115.2(DNAH11):c.1328G>A (p.Ser443Asn)
|
|
|
NM_001277115.2(DNAH11):c.13303+12dup
|
|
|
NM_001277115.2(DNAH11):c.13374G>A (p.Pro4458=)
|
rs201444942
|
|
NM_001277115.2(DNAH11):c.1342A>G (p.Arg448Gly)
|
|
|
NM_001277115.2(DNAH11):c.1356A>G (p.Pro452=)
|
|
|
NM_001277115.2(DNAH11):c.1358G>T (p.Trp453Leu)
|
|
|
NM_001277115.2(DNAH11):c.1375C>T (p.Leu459=)
|
|
|
NM_001277115.2(DNAH11):c.137C>T (p.Ala46Val)
|
|
|
NM_001277115.2(DNAH11):c.138G>A (p.Ala46=)
|
|
|
NM_001277115.2(DNAH11):c.1411T>G (p.Leu471Val)
|
|
|
NM_001277115.2(DNAH11):c.1418A>G (p.Lys473Arg)
|
|
|
NM_001277115.2(DNAH11):c.1426-7dup
|
|
|
NM_001277115.2(DNAH11):c.1440C>T (p.Thr480=)
|
|
|
NM_001277115.2(DNAH11):c.1444T>G (p.Leu482Val)
|
|
|
NM_001277115.2(DNAH11):c.1467A>G (p.Arg489=)
|
|
|
NM_001277115.2(DNAH11):c.1478G>A (p.Gly493Asp)
|
|
|
NM_001277115.2(DNAH11):c.148G>A (p.Ala50Thr)
|
|
|
NM_001277115.2(DNAH11):c.1516G>C (p.Glu506Gln)
|
|
|
NM_001277115.2(DNAH11):c.152G>A (p.Arg51Gln)
|
rs753634502
|
|
NM_001277115.2(DNAH11):c.152G>C (p.Arg51Pro)
|
|
|
NM_001277115.2(DNAH11):c.1535T>C (p.Met512Thr)
|
rs72655984
|
|
NM_001277115.2(DNAH11):c.1543T>A (p.Cys515Ser)
|
|
|
NM_001277115.2(DNAH11):c.1543T>C (p.Cys515Arg)
|
|
|
NM_001277115.2(DNAH11):c.1565C>T (p.Thr522Ile)
|
|
|
NM_001277115.2(DNAH11):c.1573C>T (p.Pro525Ser)
|
|
|
NM_001277115.2(DNAH11):c.1589A>T (p.Asn530Ile)
|
|
|
NM_001277115.2(DNAH11):c.1615G>A (p.Ala539Thr)
|
|
|
NM_001277115.2(DNAH11):c.1622A>T (p.Lys541Met)
|
|
|
NM_001277115.2(DNAH11):c.1643A>T (p.Asp548Val)
|
rs374191991
|
|
NM_001277115.2(DNAH11):c.1688A>G (p.Asn563Ser)
|
|
|
NM_001277115.2(DNAH11):c.1730A>G (p.Asn577Ser)
|
|
|
NM_001277115.2(DNAH11):c.1733T>A (p.Phe578Tyr)
|
|
|
NM_001277115.2(DNAH11):c.1750G>A (p.Val584Ile)
|
|
|
NM_001277115.2(DNAH11):c.1761T>G (p.Ile587Met)
|
|
|
NM_001277115.2(DNAH11):c.1767C>T (p.Ser589=)
|
|
|
NM_001277115.2(DNAH11):c.1777A>G (p.Ser593Gly)
|
|
|
NM_001277115.2(DNAH11):c.1778G>A (p.Ser593Asn)
|
|
|
NM_001277115.2(DNAH11):c.1778G>C (p.Ser593Thr)
|
rs754774362
|
|
NM_001277115.2(DNAH11):c.177G>T (p.Val59=)
|
|
|
NM_001277115.2(DNAH11):c.178C>T (p.Arg60Cys)
|
|
|
NM_001277115.2(DNAH11):c.1806G>A (p.Glu602=)
|
|
|
NM_001277115.2(DNAH11):c.1837C>T (p.His613Tyr)
|
|
|
NM_001277115.2(DNAH11):c.1852G>A (p.Glu618Lys)
|
|
|
NM_001277115.2(DNAH11):c.1856G>T (p.Cys619Phe)
|
|
|
NM_001277115.2(DNAH11):c.1886C>T (p.Pro629Leu)
|
|
|
NM_001277115.2(DNAH11):c.1887A>G (p.Pro629=)
|
|
|
NM_001277115.2(DNAH11):c.1931G>A (p.Arg644Gln)
|
|
|
NM_001277115.2(DNAH11):c.1961C>T (p.Ser654Phe)
|
|
|
NM_001277115.2(DNAH11):c.1966C>T (p.Arg656Cys)
|
|
|
NM_001277115.2(DNAH11):c.1967G>C (p.Arg656Pro)
|
|
|
NM_001277115.2(DNAH11):c.1978T>C (p.Leu660=)
|
rs771896570
|
|
NM_001277115.2(DNAH11):c.1987C>G (p.Pro663Ala)
|
rs546189940
|
|
NM_001277115.2(DNAH11):c.1997C>G (p.Ala666Gly)
|
|
|
NM_001277115.2(DNAH11):c.2015A>G (p.Tyr672Cys)
|
|
|
NM_001277115.2(DNAH11):c.2052T>A (p.Ser684Arg)
|
|
|
NM_001277115.2(DNAH11):c.2060A>G (p.Tyr687Cys)
|
|
|
NM_001277115.2(DNAH11):c.2075G>A (p.Ser692Asn)
|
|
|
NM_001277115.2(DNAH11):c.2084A>G (p.Asp695Gly)
|
|
|
NM_001277115.2(DNAH11):c.2111A>T (p.Gln704Leu)
|
|
|
NM_001277115.2(DNAH11):c.2127C>A (p.Phe709Leu)
|
|
|
NM_001277115.2(DNAH11):c.212G>A (p.Gly71Glu)
|
|
|
NM_001277115.2(DNAH11):c.2134A>G (p.Ile712Val)
|
|
|
NM_001277115.2(DNAH11):c.2148C>T (p.Leu716=)
|
|
|
NM_001277115.2(DNAH11):c.21C>T (p.Ala7=)
|
|
|
NM_001277115.2(DNAH11):c.220G>A (p.Glu74Lys)
|
|
|
NM_001277115.2(DNAH11):c.2213A>G (p.Lys738Arg)
|
|
|
NM_001277115.2(DNAH11):c.2223C>T (p.Asp741=)
|
|
|
NM_001277115.2(DNAH11):c.2274+24del
|
|
|
NM_001277115.2(DNAH11):c.2274+24dup
|
|
|
NM_001277115.2(DNAH11):c.2275-15del
|
|
|
NM_001277115.2(DNAH11):c.2281G>A (p.Gly761Arg)
|
|
|
NM_001277115.2(DNAH11):c.2299G>A (p.Val767Met)
|
|
|
NM_001277115.2(DNAH11):c.2347C>G (p.Pro783Ala)
|
|
|
NM_001277115.2(DNAH11):c.2354T>C (p.Ile785Thr)
|
|
|
NM_001277115.2(DNAH11):c.23G>T (p.Arg8Leu)
|
|
|
NM_001277115.2(DNAH11):c.2403G>A (p.Thr801=)
|
|
|
NM_001277115.2(DNAH11):c.2426G>A (p.Cys809Tyr)
|
|
|
NM_001277115.2(DNAH11):c.2441A>G (p.Glu814Gly)
|
|
|
NM_001277115.2(DNAH11):c.2464G>A (p.Glu822Lys)
|
|
|
NM_001277115.2(DNAH11):c.2490A>C (p.Thr830=)
|
|
|
NM_001277115.2(DNAH11):c.2491C>G (p.Gln831Glu)
|
|
|
NM_001277115.2(DNAH11):c.2494A>G (p.Lys832Glu)
|
|
|
NM_001277115.2(DNAH11):c.2502G>T (p.Val834=)
|
|
|
NM_001277115.2(DNAH11):c.2541C>T (p.Cys847=)
|
|
|
NM_001277115.2(DNAH11):c.2578G>T (p.Ala860Ser)
|
|
|
NM_001277115.2(DNAH11):c.259C>T (p.Arg87Trp)
|
|
|
NM_001277115.2(DNAH11):c.2614A>G (p.Lys872Glu)
|
|
|
NM_001277115.2(DNAH11):c.2656A>G (p.Asn886Asp)
|
|
|
NM_001277115.2(DNAH11):c.2657A>C (p.Asn886Thr)
|
|
|
NM_001277115.2(DNAH11):c.2657A>G (p.Asn886Ser)
|
|
|
NM_001277115.2(DNAH11):c.2679G>A (p.Lys893=)
|
|
|
NM_001277115.2(DNAH11):c.2686A>G (p.Lys896Glu)
|
|
|
NM_001277115.2(DNAH11):c.2693A>G (p.Asn898Ser)
|
|
|
NM_001277115.2(DNAH11):c.2729T>G (p.Phe910Cys)
|
|
|
NM_001277115.2(DNAH11):c.2736C>T (p.Asp912=)
|
|
|
NM_001277115.2(DNAH11):c.2767A>G (p.Ile923Val)
|
|
|
NM_001277115.2(DNAH11):c.2774A>G (p.His925Arg)
|
|
|
NM_001277115.2(DNAH11):c.2787C>G (p.Phe929Leu)
|
|
|
NM_001277115.2(DNAH11):c.2811A>G (p.Gln937=)
|
|
|
NM_001277115.2(DNAH11):c.2819C>T (p.Pro940Leu)
|
|
|
NM_001277115.2(DNAH11):c.2892G>T (p.Glu964Asp)
|
|
|
NM_001277115.2(DNAH11):c.2933G>A (p.Cys978Tyr)
|
|
|
NM_001277115.2(DNAH11):c.2936A>G (p.Asn979Ser)
|
|
|
NM_001277115.2(DNAH11):c.2957A>G (p.Gln986Arg)
|
|
|
NM_001277115.2(DNAH11):c.2973A>G (p.Ala991=)
|
|
|
NM_001277115.2(DNAH11):c.2997T>C (p.Tyr999=)
|
|
|
NM_001277115.2(DNAH11):c.3008T>A (p.Met1003Lys)
|
|
|
NM_001277115.2(DNAH11):c.3008T>C (p.Met1003Thr)
|
|
|
NM_001277115.2(DNAH11):c.3025C>G (p.Leu1009Val)
|
|
|
NM_001277115.2(DNAH11):c.3036C>T (p.Val1012=)
|
|
|
NM_001277115.2(DNAH11):c.3046A>T (p.Ile1016Phe)
|
|
|
NM_001277115.2(DNAH11):c.3049A>T (p.Met1017Leu)
|
|
|
NM_001277115.2(DNAH11):c.307G>A (p.Val103Met)
|
|
|
NM_001277115.2(DNAH11):c.3083T>C (p.Leu1028Ser)
|
|
|
NM_001277115.2(DNAH11):c.3152A>G (p.His1051Arg)
|
|
|
NM_001277115.2(DNAH11):c.3165T>C (p.Tyr1055=)
|
|
|
NM_001277115.2(DNAH11):c.3170A>G (p.His1057Arg)
|
|
|
NM_001277115.2(DNAH11):c.3182C>A (p.Ser1061Tyr)
|
|
|
NM_001277115.2(DNAH11):c.3184G>A (p.Asp1062Asn)
|
rs371880343
|
|
NM_001277115.2(DNAH11):c.3200A>G (p.His1067Arg)
|
|
|
NM_001277115.2(DNAH11):c.3222A>G (p.Glu1074=)
|
|
|
NM_001277115.2(DNAH11):c.3234T>A (p.Thr1078=)
|
|
|
NM_001277115.2(DNAH11):c.3279T>C (p.Tyr1093=)
|
|
|
NM_001277115.2(DNAH11):c.3294A>G (p.Lys1098=)
|
|
|
NM_001277115.2(DNAH11):c.32G>C (p.Arg11Pro)
|
|
|
NM_001277115.2(DNAH11):c.3303C>G (p.Asp1101Glu)
|
|
|
NM_001277115.2(DNAH11):c.3306T>C (p.Phe1102=)
|
|
|
NM_001277115.2(DNAH11):c.3307A>G (p.Arg1103Gly)
|
|
|
NM_001277115.2(DNAH11):c.3318T>C (p.Asp1106=)
|
|
|
NM_001277115.2(DNAH11):c.3342G>A (p.Lys1114=)
|
|
|
NM_001277115.2(DNAH11):c.3369A>G (p.Ile1123Met)
|
|
|
NM_001277115.2(DNAH11):c.3375G>A (p.Lys1125=)
|
|
|
NM_001277115.2(DNAH11):c.3401A>G (p.His1134Arg)
|
|
|
NM_001277115.2(DNAH11):c.3431A>G (p.Asn1144Ser)
|
|
|
NM_001277115.2(DNAH11):c.3440A>G (p.Gln1147Arg)
|
|
|
NM_001277115.2(DNAH11):c.3474G>C (p.Gln1158His)
|
|
|
NM_001277115.2(DNAH11):c.3557C>T (p.Thr1186Ile)
|
|
|
NM_001277115.2(DNAH11):c.3566T>C (p.Leu1189Pro)
|
|
|
NM_001277115.2(DNAH11):c.3635A>G (p.Tyr1212Cys)
|
|
|
NM_001277115.2(DNAH11):c.367A>G (p.Asn123Asp)
|
|
|
NM_001277115.2(DNAH11):c.3685G>A (p.Ala1229Thr)
|
|
|
NM_001277115.2(DNAH11):c.3697A>G (p.Arg1233Gly)
|
|
|
NM_001277115.2(DNAH11):c.36C>G (p.Asp12Glu)
|
|
|
NM_001277115.2(DNAH11):c.3725C>A (p.Ala1242Glu)
|
|
|
NM_001277115.2(DNAH11):c.3725C>T (p.Ala1242Val)
|
|
|
NM_001277115.2(DNAH11):c.3740T>A (p.Ile1247Lys)
|
|
|
NM_001277115.2(DNAH11):c.3751T>C (p.Cys1251Arg)
|
rs765674180
|
|
NM_001277115.2(DNAH11):c.3771G>A (p.Lys1257=)
|
|
|
NM_001277115.2(DNAH11):c.3775G>A (p.Ala1259Thr)
|
|
|
NM_001277115.2(DNAH11):c.3821A>C (p.Asn1274Thr)
|
|
|
NM_001277115.2(DNAH11):c.3824C>G (p.Ala1275Gly)
|
|
|
NM_001277115.2(DNAH11):c.3842C>T (p.Ala1281Val)
|
|
|
NM_001277115.2(DNAH11):c.3853-16T>A
|
rs377295132
|
|
NM_001277115.2(DNAH11):c.3853-16T>C
|
rs377295132
|
|
NM_001277115.2(DNAH11):c.3878A>G (p.Glu1293Gly)
|
|
|
NM_001277115.2(DNAH11):c.3890T>G (p.Leu1297Trp)
|
|
|
NM_001277115.2(DNAH11):c.3892C>G (p.Gln1298Glu)
|
|
|
NM_001277115.2(DNAH11):c.3893A>G (p.Gln1298Arg)
|
|
|
NM_001277115.2(DNAH11):c.3898C>G (p.Gln1300Glu)
|
|
|
NM_001277115.2(DNAH11):c.3958C>T (p.Arg1320Cys)
|
|
|
NM_001277115.2(DNAH11):c.3959G>A (p.Arg1320His)
|
|
|
NM_001277115.2(DNAH11):c.395A>G (p.Lys132Arg)
|
rs374076948
|
|
NM_001277115.2(DNAH11):c.3975G>T (p.Leu1325Phe)
|
|
|
NM_001277115.2(DNAH11):c.3991G>A (p.Asp1331Asn)
|
|
|
NM_001277115.2(DNAH11):c.4011+16del
|
|
|
NM_001277115.2(DNAH11):c.4012-11del
|
|
|
NM_001277115.2(DNAH11):c.4012-4del
|
|
|
NM_001277115.2(DNAH11):c.4054C>G (p.His1352Asp)
|
|
|
NM_001277115.2(DNAH11):c.4066A>G (p.Met1356Val)
|
|
|
NM_001277115.2(DNAH11):c.4077A>G (p.Glu1359=)
|
|
|
NM_001277115.2(DNAH11):c.4103G>T (p.Trp1368Leu)
|
|
|
NM_001277115.2(DNAH11):c.4123C>T (p.Arg1375Cys)
|
|
|
NM_001277115.2(DNAH11):c.4127T>A (p.Val1376Asp)
|
|
|
NM_001277115.2(DNAH11):c.4132G>A (p.Asp1378Asn)
|
|
|
NM_001277115.2(DNAH11):c.4142C>A (p.Thr1381Lys)
|
|
|
NM_001277115.2(DNAH11):c.4142C>T (p.Thr1381Met)
|
rs551195183
|
|
NM_001277115.2(DNAH11):c.4146C>T (p.Gly1382=)
|
|
|
NM_001277115.2(DNAH11):c.4153G>A (p.Gly1385Ser)
|
|
|
NM_001277115.2(DNAH11):c.4159G>A (p.Val1387Ile)
|
|
|
NM_001277115.2(DNAH11):c.4174G>A (p.Ala1392Thr)
|
|
|
NM_001277115.2(DNAH11):c.4194A>G (p.Thr1398=)
|
|
|
NM_001277115.2(DNAH11):c.4218G>A (p.Arg1406=)
|
|
|
NM_001277115.2(DNAH11):c.4220A>G (p.Asp1407Gly)
|
|
|
NM_001277115.2(DNAH11):c.4233C>G (p.His1411Gln)
|
|
|
NM_001277115.2(DNAH11):c.4241T>G (p.Met1414Arg)
|
|
|
NM_001277115.2(DNAH11):c.4255-12del
|
rs758841984
|
|
NM_001277115.2(DNAH11):c.4260G>A (p.Lys1420=)
|
|
|
NM_001277115.2(DNAH11):c.4281A>T (p.Thr1427=)
|
|
|
NM_001277115.2(DNAH11):c.4285T>C (p.Leu1429=)
|
|
|
NM_001277115.2(DNAH11):c.4300G>A (p.Ala1434Thr)
|
|
|
NM_001277115.2(DNAH11):c.4307G>A (p.Arg1436Gln)
|
|
|
NM_001277115.2(DNAH11):c.4324G>A (p.Asp1442Asn)
|
|
|
NM_001277115.2(DNAH11):c.4345G>C (p.Asp1449His)
|
|
|
NM_001277115.2(DNAH11):c.4352C>T (p.Ala1451Val)
|
|
|
NM_001277115.2(DNAH11):c.4355T>C (p.Val1452Ala)
|
|
|
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA
|
rs57952953
|
|
NM_001277115.2(DNAH11):c.4395T>G (p.Ser1465Arg)
|
|
|
NM_001277115.2(DNAH11):c.4425C>T (p.Tyr1475=)
|
|
|
NM_001277115.2(DNAH11):c.4436A>G (p.Tyr1479Cys)
|
|
|
NM_001277115.2(DNAH11):c.4439G>A (p.Arg1480Gln)
|
|
|
NM_001277115.2(DNAH11):c.4450C>G (p.Pro1484Ala)
|
|
|
NM_001277115.2(DNAH11):c.4458A>G (p.Leu1486=)
|
|
|
NM_001277115.2(DNAH11):c.4519C>T (p.Leu1507Phe)
|
|
|
NM_001277115.2(DNAH11):c.4532A>T (p.Tyr1511Phe)
|
|
|
NM_001277115.2(DNAH11):c.4552C>G (p.Gln1518Glu)
|
|
|
NM_001277115.2(DNAH11):c.4554A>G (p.Gln1518=)
|
|
|
NM_001277115.2(DNAH11):c.4581C>G (p.Asn1527Lys)
|
|
|
NM_001277115.2(DNAH11):c.4604C>A (p.Thr1535Asn)
|
|
|
NM_001277115.2(DNAH11):c.4622G>A (p.Arg1541Gln)
|
|
|
NM_001277115.2(DNAH11):c.4624A>G (p.Thr1542Ala)
|
|
|
NM_001277115.2(DNAH11):c.4636C>T (p.Leu1546=)
|
|
|
NM_001277115.2(DNAH11):c.4642A>G (p.Ser1548Gly)
|
|
|
NM_001277115.2(DNAH11):c.4703A>T (p.Asp1568Val)
|
|
|
NM_001277115.2(DNAH11):c.4708G>A (p.Val1570Met)
|
|
|
NM_001277115.2(DNAH11):c.4747A>G (p.Lys1583Glu)
|
|
|
NM_001277115.2(DNAH11):c.4760T>C (p.Val1587Ala)
|
|
|
NM_001277115.2(DNAH11):c.4777A>G (p.Arg1593Gly)
|
|
|
NM_001277115.2(DNAH11):c.4781C>T (p.Pro1594Leu)
|
|
|
NM_001277115.2(DNAH11):c.4784A>C (p.Asn1595Thr)
|
|
|
NM_001277115.2(DNAH11):c.4785T>G (p.Asn1595Lys)
|
|
|
NM_001277115.2(DNAH11):c.47C>T (p.Ala16Val)
|
|
|
NM_001277115.2(DNAH11):c.4802A>C (p.Lys1601Thr)
|
|
|
NM_001277115.2(DNAH11):c.4864C>T (p.Arg1622Cys)
|
|
|
NM_001277115.2(DNAH11):c.4869A>G (p.Ile1623Met)
|
|
|
NM_001277115.2(DNAH11):c.4944+14del
|
|
|
NM_001277115.2(DNAH11):c.4944+14dup
|
|
|
NM_001277115.2(DNAH11):c.4972G>A (p.Asp1658Asn)
|
|
|
NM_001277115.2(DNAH11):c.4976G>A (p.Ser1659Asn)
|
|
|
NM_001277115.2(DNAH11):c.4987C>G (p.Leu1663Val)
|
|
|
NM_001277115.2(DNAH11):c.5003A>G (p.Asn1668Ser)
|
|
|
NM_001277115.2(DNAH11):c.5017G>A (p.Ala1673Thr)
|
|
|
NM_001277115.2(DNAH11):c.5037G>A (p.Met1679Ile)
|
|
|
NM_001277115.2(DNAH11):c.5059G>A (p.Val1687Ile)
|
|
|
NM_001277115.2(DNAH11):c.507A>G (p.Pro169=)
|
|
|
NM_001277115.2(DNAH11):c.508G>A (p.Val170Ile)
|
|
|
NM_001277115.2(DNAH11):c.50C>T (p.Pro17Leu)
|
|
|
NM_001277115.2(DNAH11):c.5103A>G (p.Thr1701=)
|
|
|
NM_001277115.2(DNAH11):c.5147A>G (p.His1716Arg)
|
|
|
NM_001277115.2(DNAH11):c.5164A>G (p.Ile1722Val)
|
|
|
NM_001277115.2(DNAH11):c.5175C>T (p.Tyr1725=)
|
|
|
NM_001277115.2(DNAH11):c.5194C>G (p.Leu1732Val)
|
|
|
NM_001277115.2(DNAH11):c.5196G>A (p.Leu1732=)
|
|
|
NM_001277115.2(DNAH11):c.5221G>T (p.Val1741Phe)
|
|
|
NM_001277115.2(DNAH11):c.5224G>A (p.Ala1742Thr)
|
|
|
NM_001277115.2(DNAH11):c.5237C>T (p.Ser1746Leu)
|
|
|
NM_001277115.2(DNAH11):c.5258A>G (p.Asp1753Gly)
|
|
|
NM_001277115.2(DNAH11):c.5264G>C (p.Gly1755Ala)
|
|
|
NM_001277115.2(DNAH11):c.5269G>T (p.Ala1757Ser)
|
|
|
NM_001277115.2(DNAH11):c.526A>G (p.Asn176Asp)
|
|
|
NM_001277115.2(DNAH11):c.5286A>G (p.Glu1762=)
|
|
|
NM_001277115.2(DNAH11):c.5294A>G (p.Tyr1765Cys)
|
|
|
NM_001277115.2(DNAH11):c.5302G>A (p.Ala1768Thr)
|
|
|
NM_001277115.2(DNAH11):c.5325A>G (p.Lys1775=)
|
|
|
NM_001277115.2(DNAH11):c.534G>A (p.Lys178=)
|
|
|
NM_001277115.2(DNAH11):c.5366G>T (p.Gly1789Val)
|
|
|
NM_001277115.2(DNAH11):c.5395A>C (p.Ile1799Leu)
|
|
|
NM_001277115.2(DNAH11):c.53C>T (p.Thr18Ile)
|
|
|
NM_001277115.2(DNAH11):c.5404A>G (p.Ile1802Val)
|
|
|
NM_001277115.2(DNAH11):c.5406T>A (p.Ile1802=)
|
|
|
NM_001277115.2(DNAH11):c.5408G>T (p.Cys1803Phe)
|
|
|
NM_001277115.2(DNAH11):c.5414T>C (p.Ile1805Thr)
|
|
|
NM_001277115.2(DNAH11):c.5436G>A (p.Val1812=)
|
|
|
NM_001277115.2(DNAH11):c.5448T>G (p.Leu1816=)
|
|
|
NM_001277115.2(DNAH11):c.5492C>G (p.Ser1831Cys)
|
|
|
NM_001277115.2(DNAH11):c.5507G>A (p.Arg1836Gln)
|
|
|
NM_001277115.2(DNAH11):c.5515G>A (p.Asp1839Asn)
|
|
|
NM_001277115.2(DNAH11):c.5611C>G (p.Leu1871Val)
|
|
|
NM_001277115.2(DNAH11):c.563T>C (p.Met188Thr)
|
|
|
NM_001277115.2(DNAH11):c.563T>G (p.Met188Arg)
|
rs768697972
|
|
NM_001277115.2(DNAH11):c.5651A>G (p.His1884Arg)
|
|
|
NM_001277115.2(DNAH11):c.5675C>T (p.Ala1892Val)
|
|
|
NM_001277115.2(DNAH11):c.5709C>A (p.Thr1903=)
|
|
|
NM_001277115.2(DNAH11):c.5718A>G (p.Leu1906=)
|
|
|
NM_001277115.2(DNAH11):c.5722C>T (p.Arg1908Cys)
|
|
|
NM_001277115.2(DNAH11):c.5723G>A (p.Arg1908His)
|
|
|
NM_001277115.2(DNAH11):c.574A>G (p.Ile192Val)
|
|
|
NM_001277115.2(DNAH11):c.5757T>C (p.Cys1919=)
|
|
|
NM_001277115.2(DNAH11):c.5787C>T (p.Gly1929=)
|
|
|
NM_001277115.2(DNAH11):c.5789A>G (p.Asn1930Ser)
|
|
|
NM_001277115.2(DNAH11):c.579A>G (p.Glu193=)
|
|
|
NM_001277115.2(DNAH11):c.5803T>C (p.Leu1935=)
|
|
|
NM_001277115.2(DNAH11):c.5883A>G (p.Gln1961=)
|
|
|
NM_001277115.2(DNAH11):c.58C>T (p.Arg20Cys)
|
|
|
NM_001277115.2(DNAH11):c.5915G>A (p.Arg1972Lys)
|
|
|
NM_001277115.2(DNAH11):c.5919G>T (p.Lys1973Asn)
|
|
|
NM_001277115.2(DNAH11):c.5983A>G (p.Met1995Val)
|
|
|
NM_001277115.2(DNAH11):c.5990C>T (p.Pro1997Leu)
|
rs752331761
|
|
NM_001277115.2(DNAH11):c.599A>G (p.Tyr200Cys)
|
|
|
NM_001277115.2(DNAH11):c.600T>C (p.Tyr200=)
|
|
|
NM_001277115.2(DNAH11):c.6027C>T (p.Leu2009=)
|
|
|
NM_001277115.2(DNAH11):c.6032C>T (p.Ala2011Val)
|
|
|
NM_001277115.2(DNAH11):c.6066C>T (p.Asp2022=)
|
|
|
NM_001277115.2(DNAH11):c.6091T>C (p.Leu2031=)
|
|
|
NM_001277115.2(DNAH11):c.6105T>C (p.Gly2035=)
|
|
|
NM_001277115.2(DNAH11):c.6119G>A (p.Arg2040His)
|
|
|
NM_001277115.2(DNAH11):c.6119G>C (p.Arg2040Pro)
|
|
|
NM_001277115.2(DNAH11):c.6143C>T (p.Thr2048Met)
|
|
|
NM_001277115.2(DNAH11):c.6159C>T (p.Cys2053=)
|
|
|
NM_001277115.2(DNAH11):c.6185A>G (p.His2062Arg)
|
|
|
NM_001277115.2(DNAH11):c.6189C>T (p.Tyr2063=)
|
|
|
NM_001277115.2(DNAH11):c.6208A>G (p.Ile2070Val)
|
|
|
NM_001277115.2(DNAH11):c.6220T>C (p.Leu2074=)
|
|
|
NM_001277115.2(DNAH11):c.6245G>A (p.Arg2082Gln)
|
rs563280837
|
|
NM_001277115.2(DNAH11):c.6245G>C (p.Arg2082Pro)
|
|
|
NM_001277115.2(DNAH11):c.6258T>C (p.Asn2086=)
|
|
|
NM_001277115.2(DNAH11):c.6273+9A>G
|
rs192777767
|
|
NM_001277115.2(DNAH11):c.6274-5del
|
rs762673009
|
|
NM_001277115.2(DNAH11):c.6328A>C (p.Ile2110Leu)
|
|
|
NM_001277115.2(DNAH11):c.6334G>T (p.Val2112Leu)
|
|
|
NM_001277115.2(DNAH11):c.6343G>A (p.Gly2115Ser)
|
|
|
NM_001277115.2(DNAH11):c.6355G>A (p.Asp2119Asn)
|
|
|
NM_001277115.2(DNAH11):c.6375T>C (p.Asp2125=)
|
|
|
NM_001277115.2(DNAH11):c.6436C>T (p.Arg2146Cys)
|
|
|
NM_001277115.2(DNAH11):c.6468+6dup
|
|
|
NM_001277115.2(DNAH11):c.6504C>T (p.His2168=)
|
|
|
NM_001277115.2(DNAH11):c.6516A>G (p.Val2172=)
|
|
|
NM_001277115.2(DNAH11):c.6573T>C (p.Tyr2191=)
|
|
|
NM_001277115.2(DNAH11):c.6593C>G (p.Pro2198Arg)
|
rs745741888
|
|
NM_001277115.2(DNAH11):c.6593C>T (p.Pro2198Leu)
|
|
|
NM_001277115.2(DNAH11):c.6620C>T (p.Ala2207Val)
|
|
|
NM_001277115.2(DNAH11):c.663G>T (p.Met221Ile)
|
|
|
NM_001277115.2(DNAH11):c.6652C>T (p.His2218Tyr)
|
|
|
NM_001277115.2(DNAH11):c.6653A>G (p.His2218Arg)
|
|
|
NM_001277115.2(DNAH11):c.6659C>G (p.Ala2220Gly)
|
|
|
NM_001277115.2(DNAH11):c.6665G>A (p.Arg2222Gln)
|
|
|
NM_001277115.2(DNAH11):c.6698A>G (p.Tyr2233Cys)
|
|
|
NM_001277115.2(DNAH11):c.6724C>G (p.Leu2242Val)
|
rs549953657
|
|
NM_001277115.2(DNAH11):c.6742C>G (p.Leu2248Val)
|
|
|
NM_001277115.2(DNAH11):c.6747G>C (p.Lys2249Asn)
|
rs760315430
|
|
NM_001277115.2(DNAH11):c.674A>G (p.Gln225Arg)
|
|
|
NM_001277115.2(DNAH11):c.6780C>T (p.Gly2260=)
|
|
|
NM_001277115.2(DNAH11):c.6793A>G (p.Met2265Val)
|
|
|
NM_001277115.2(DNAH11):c.6846C>A (p.Leu2282=)
|
|
|
NM_001277115.2(DNAH11):c.6854A>G (p.Asn2285Ser)
|
|
|
NM_001277115.2(DNAH11):c.6880A>G (p.Met2294Val)
|
|
|
NM_001277115.2(DNAH11):c.6882G>A (p.Met2294Ile)
|
|
|
NM_001277115.2(DNAH11):c.6885G>A (p.Arg2295=)
|
|
|
NM_001277115.2(DNAH11):c.6915C>T (p.Ser2305=)
|
|
|
NM_001277115.2(DNAH11):c.693-14C>G
|
rs574585676
|
|
NM_001277115.2(DNAH11):c.6941C>T (p.Ala2314Val)
|
|
|
NM_001277115.2(DNAH11):c.6988G>A (p.Val2330Met)
|
|
|
NM_001277115.2(DNAH11):c.7036T>A (p.Leu2346Met)
|
|
|
NM_001277115.2(DNAH11):c.7081C>A (p.Leu2361Met)
|
|
|
NM_001277115.2(DNAH11):c.7091G>A (p.Ser2364Asn)
|
|
|
NM_001277115.2(DNAH11):c.7111A>G (p.Ile2371Val)
|
|
|
NM_001277115.2(DNAH11):c.7140A>G (p.Leu2380=)
|
|
|
NM_001277115.2(DNAH11):c.7144G>A (p.Val2382Ile)
|
|
|
NM_001277115.2(DNAH11):c.7240T>G (p.Phe2414Val)
|
|
|
NM_001277115.2(DNAH11):c.7267-12dup
|
|
|
NM_001277115.2(DNAH11):c.7283C>G (p.Ala2428Gly)
|
|
|
NM_001277115.2(DNAH11):c.728T>C (p.Ile243Thr)
|
|
|
NM_001277115.2(DNAH11):c.7299G>T (p.Trp2433Cys)
|
|
|
NM_001277115.2(DNAH11):c.7331C>T (p.Pro2444Leu)
|
|
|
NM_001277115.2(DNAH11):c.7337A>G (p.Gln2446Arg)
|
|
|
NM_001277115.2(DNAH11):c.7339G>A (p.Gly2447Arg)
|
|
|
NM_001277115.2(DNAH11):c.7345A>C (p.Ile2449Leu)
|
|
|
NM_001277115.2(DNAH11):c.7388C>T (p.Pro2463Leu)
|
|
|
NM_001277115.2(DNAH11):c.73G>A (p.Ala25Thr)
|
|
|
NM_001277115.2(DNAH11):c.7427A>G (p.Asp2476Gly)
|
|
|
NM_001277115.2(DNAH11):c.7428T>A (p.Asp2476Glu)
|
|
|
NM_001277115.2(DNAH11):c.7450G>A (p.Val2484Ile)
|
|
|
NM_001277115.2(DNAH11):c.7459A>G (p.Thr2487Ala)
|
|
|
NM_001277115.2(DNAH11):c.7471C>T (p.Arg2491Cys)
|
rs267601454
|
|
NM_001277115.2(DNAH11):c.7472G>A (p.Arg2491His)
|
rs369438218
|
|
NM_001277115.2(DNAH11):c.7486A>G (p.Met2496Val)
|
|
|
NM_001277115.2(DNAH11):c.7498C>A (p.Leu2500Ile)
|
|
|
NM_001277115.2(DNAH11):c.7533T>C (p.Asn2511=)
|
|
|
NM_001277115.2(DNAH11):c.7542G>A (p.Val2514=)
|
|
|
NM_001277115.2(DNAH11):c.7558G>A (p.Val2520Ile)
|
|
|
NM_001277115.2(DNAH11):c.7559T>C (p.Val2520Ala)
|
|
|
NM_001277115.2(DNAH11):c.7570T>A (p.Leu2524Met)
|
|
|
NM_001277115.2(DNAH11):c.7581C>T (p.Leu2527=)
|
|
|
NM_001277115.2(DNAH11):c.7588G>A (p.Asp2530Asn)
|
|
|
NM_001277115.2(DNAH11):c.7599A>G (p.Val2533=)
|
|
|
NM_001277115.2(DNAH11):c.7604G>A (p.Arg2535His)
|
|
|
NM_001277115.2(DNAH11):c.7626G>A (p.Thr2542=)
|
rs2072221
|
|
NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=)
|
rs2072221
|
|
NM_001277115.2(DNAH11):c.7627A>G (p.Thr2543Ala)
|
|
|
NM_001277115.2(DNAH11):c.7629A>G (p.Thr2543=)
|
|
|
NM_001277115.2(DNAH11):c.7662C>G (p.Pro2554=)
|
|
|
NM_001277115.2(DNAH11):c.7677T>C (p.Ala2559=)
|
|
|
NM_001277115.2(DNAH11):c.7690G>A (p.Gly2564Ser)
|
|
|
NM_001277115.2(DNAH11):c.7729G>A (p.Asp2577Asn)
|
|
|
NM_001277115.2(DNAH11):c.7755A>G (p.Leu2585=)
|
|
|
NM_001277115.2(DNAH11):c.7787G>A (p.Arg2596Gln)
|
|
|
NM_001277115.2(DNAH11):c.7795A>G (p.Ile2599Val)
|
|
|
NM_001277115.2(DNAH11):c.7827G>A (p.Lys2609=)
|
|
|
NM_001277115.2(DNAH11):c.7847A>G (p.His2616Arg)
|
|
|
NM_001277115.2(DNAH11):c.7861G>A (p.Val2621Ile)
|
|
|
NM_001277115.2(DNAH11):c.7880T>C (p.Met2627Thr)
|
|
|
NM_001277115.2(DNAH11):c.7891T>A (p.Phe2631Ile)
|
|
|
NM_001277115.2(DNAH11):c.7896C>T (p.Thr2632=)
|
|
|
NM_001277115.2(DNAH11):c.7901A>T (p.Asn2634Ile)
|
|
|
NM_001277115.2(DNAH11):c.7903C>T (p.Pro2635Ser)
|
|
|
NM_001277115.2(DNAH11):c.7915-9dup
|
|
|
NM_001277115.2(DNAH11):c.7935A>G (p.Ala2645=)
|
|
|
NM_001277115.2(DNAH11):c.794G>C (p.Arg265Pro)
|
rs192989152
|
|
NM_001277115.2(DNAH11):c.7952T>C (p.Leu2651Ser)
|
|
|
NM_001277115.2(DNAH11):c.7973A>G (p.Tyr2658Cys)
|
rs377216163
|
|
NM_001277115.2(DNAH11):c.7982T>C (p.Ile2661Thr)
|
|
|
NM_001277115.2(DNAH11):c.7998C>T (p.Phe2666=)
|
|
|
NM_001277115.2(DNAH11):c.79C>G (p.Leu27Val)
|
|
|
NM_001277115.2(DNAH11):c.8007A>G (p.Gln2669=)
|
|
|
NM_001277115.2(DNAH11):c.8019A>G (p.Pro2673=)
|
|
|
NM_001277115.2(DNAH11):c.8060T>C (p.Ile2687Thr)
|
|
|
NM_001277115.2(DNAH11):c.8089T>C (p.Phe2697Leu)
|
|
|
NM_001277115.2(DNAH11):c.8104A>G (p.Ile2702Val)
|
rs760332753
|
|
NM_001277115.2(DNAH11):c.811C>T (p.His271Tyr)
|
rs751575627
|
|
NM_001277115.2(DNAH11):c.8143A>G (p.Asn2715Asp)
|
|
|
NM_001277115.2(DNAH11):c.8146G>A (p.Val2716Ile)
|
|
|
NM_001277115.2(DNAH11):c.814T>A (p.Leu272Met)
|
|
|
NM_001277115.2(DNAH11):c.8169T>C (p.Ala2723=)
|
|
|
NM_001277115.2(DNAH11):c.817T>C (p.Ser273Pro)
|
|
|
NM_001277115.2(DNAH11):c.8215C>G (p.Leu2739Val)
|
|
|
NM_001277115.2(DNAH11):c.8252T>C (p.Ile2751Thr)
|
|
|
NM_001277115.2(DNAH11):c.8257A>C (p.Lys2753Gln)
|
|
|
NM_001277115.2(DNAH11):c.825A>G (p.Gln275=)
|
|
|
NM_001277115.2(DNAH11):c.8273T>C (p.Leu2758Ser)
|
|
|
NM_001277115.2(DNAH11):c.8292G>T (p.Leu2764=)
|
|
|
NM_001277115.2(DNAH11):c.833T>G (p.Leu278Arg)
|
|
|
NM_001277115.2(DNAH11):c.8426C>T (p.Thr2809Met)
|
|
|
NM_001277115.2(DNAH11):c.8474T>C (p.Met2825Thr)
|
|
|
NM_001277115.2(DNAH11):c.847A>G (p.Met283Val)
|
|
|
NM_001277115.2(DNAH11):c.8482G>C (p.Val2828Leu)
|
|
|
NM_001277115.2(DNAH11):c.8496T>C (p.Asp2832=)
|
|
|
NM_001277115.2(DNAH11):c.8567T>C (p.Val2856Ala)
|
|
|
NM_001277115.2(DNAH11):c.8570G>C (p.Gly2857Ala)
|
|
|
NM_001277115.2(DNAH11):c.8580C>T (p.Gly2860=)
|
|
|
NM_001277115.2(DNAH11):c.8588G>C (p.Ser2863Thr)
|
|
|
NM_001277115.2(DNAH11):c.8615G>A (p.Arg2872His)
|
|
|
NM_001277115.2(DNAH11):c.8627T>C (p.Val2876Ala)
|
|
|
NM_001277115.2(DNAH11):c.866C>T (p.Ser289Leu)
|
|
|
NM_001277115.2(DNAH11):c.8673+13del
|
|
|
NM_001277115.2(DNAH11):c.8673+13dup
|
|
|
NM_001277115.2(DNAH11):c.8720C>A (p.Pro2907His)
|
|
|
NM_001277115.2(DNAH11):c.8757T>C (p.Asp2919=)
|
|
|
NM_001277115.2(DNAH11):c.8769C>T (p.Leu2923=)
|
|
|
NM_001277115.2(DNAH11):c.8774T>C (p.Leu2925Pro)
|
|
|
NM_001277115.2(DNAH11):c.8782G>A (p.Asp2928Asn)
|
rs768758217
|
|
NM_001277115.2(DNAH11):c.8782G>T (p.Asp2928Tyr)
|
|
|
NM_001277115.2(DNAH11):c.8794T>G (p.Ser2932Ala)
|
|
|
NM_001277115.2(DNAH11):c.8797+23T>C
|
rs4355679
|
|
NM_001277115.2(DNAH11):c.87A>G (p.Ala29=)
|
|
|
NM_001277115.2(DNAH11):c.8806C>T (p.Pro2936Ser)
|
|
|
NM_001277115.2(DNAH11):c.883-13del
|
|
|
NM_001277115.2(DNAH11):c.8852T>C (p.Ile2951Thr)
|
|
|
NM_001277115.2(DNAH11):c.8880G>A (p.Met2960Ile)
|
|
|
NM_001277115.2(DNAH11):c.8888C>G (p.Ser2963Cys)
|
|
|
NM_001277115.2(DNAH11):c.88G>A (p.Val30Met)
|
|
|
NM_001277115.2(DNAH11):c.8927G>A (p.Arg2976Gln)
|
rs370466246
|
|
NM_001277115.2(DNAH11):c.8941-13del
|
|
|
NM_001277115.2(DNAH11):c.8941-13dup
|
|
|
NM_001277115.2(DNAH11):c.8989C>T (p.Arg2997Trp)
|
|
|
NM_001277115.2(DNAH11):c.9013T>C (p.Cys3005Arg)
|
rs369196786
|
|
NM_001277115.2(DNAH11):c.9036T>C (p.His3012=)
|
|
|
NM_001277115.2(DNAH11):c.9038C>T (p.Ala3013Val)
|
|
|
NM_001277115.2(DNAH11):c.9064G>A (p.Val3022Ile)
|
|
|
NM_001277115.2(DNAH11):c.9089C>A (p.Thr3030Asn)
|
|
|
NM_001277115.2(DNAH11):c.9095G>A (p.Gly3032Glu)
|
|
|
NM_001277115.2(DNAH11):c.9102+20G>A
|
rs60554135
|
|
NM_001277115.2(DNAH11):c.9103-4del
|
|
|
NM_001277115.2(DNAH11):c.9121A>G (p.Ile3041Val)
|
rs755550337
|
|
NM_001277115.2(DNAH11):c.9152C>T (p.Thr3051Ile)
|
|
|
NM_001277115.2(DNAH11):c.9166A>G (p.Ser3056Gly)
|
|
|
NM_001277115.2(DNAH11):c.9198C>G (p.His3066Gln)
|
|
|
NM_001277115.2(DNAH11):c.9209C>G (p.Thr3070Ser)
|
rs527922611
|
|
NM_001277115.2(DNAH11):c.9213A>G (p.Pro3071=)
|
|
|
NM_001277115.2(DNAH11):c.9218G>A (p.Ser3073Asn)
|
|
|
NM_001277115.2(DNAH11):c.923C>A (p.Thr308Lys)
|
|
|
NM_001277115.2(DNAH11):c.9250C>A (p.Leu3084Met)
|
rs566490774
|
|
NM_001277115.2(DNAH11):c.9250C>G (p.Leu3084Val)
|
|
|
NM_001277115.2(DNAH11):c.925A>G (p.Thr309Ala)
|
|
|
NM_001277115.2(DNAH11):c.9306C>T (p.Gly3102=)
|
|
|
NM_001277115.2(DNAH11):c.9311A>G (p.Gln3104Arg)
|
|
|
NM_001277115.2(DNAH11):c.9325A>T (p.Thr3109Ser)
|
|
|
NM_001277115.2(DNAH11):c.9337-8del
|
|
|
NM_001277115.2(DNAH11):c.9352G>T (p.Ala3118Ser)
|
|
|
NM_001277115.2(DNAH11):c.9360T>C (p.Leu3120=)
|
|
|
NM_001277115.2(DNAH11):c.9364T>C (p.Ser3122Pro)
|
|
|
NM_001277115.2(DNAH11):c.9376G>A (p.Glu3126Lys)
|
|
|
NM_001277115.2(DNAH11):c.9392A>G (p.Asn3131Ser)
|
|
|
NM_001277115.2(DNAH11):c.9399T>C (p.Asp3133=)
|
|
|
NM_001277115.2(DNAH11):c.9401C>T (p.Ala3134Val)
|
|
|
NM_001277115.2(DNAH11):c.9402C>G (p.Ala3134=)
|
rs148800414
|
|
NM_001277115.2(DNAH11):c.9407C>T (p.Ala3136Val)
|
|
|
NM_001277115.2(DNAH11):c.9421A>G (p.Ile3141Val)
|
|
|
NM_001277115.2(DNAH11):c.9448C>T (p.Arg3150Trp)
|
|
|
NM_001277115.2(DNAH11):c.9459C>T (p.Thr3153=)
|
|
|
NM_001277115.2(DNAH11):c.9464C>G (p.Ala3155Gly)
|
|
|
NM_001277115.2(DNAH11):c.9479G>A (p.Arg3160Gln)
|
rs267601456
|
|
NM_001277115.2(DNAH11):c.9510C>T (p.Phe3170=)
|
|
|
NM_001277115.2(DNAH11):c.9542T>A (p.Leu3181His)
|
|
|
NM_001277115.2(DNAH11):c.9561G>A (p.Leu3187=)
|
rs6965750
|
|
NM_001277115.2(DNAH11):c.9571A>G (p.Thr3191Ala)
|
|
|
NM_001277115.2(DNAH11):c.9572C>T (p.Thr3191Ile)
|
rs760597183
|
|
NM_001277115.2(DNAH11):c.9584A>G (p.Asn3195Ser)
|
|
|
NM_001277115.2(DNAH11):c.958G>A (p.Asp320Asn)
|
|
|
NM_001277115.2(DNAH11):c.9619G>A (p.Ala3207Thr)
|
|
|
NM_001277115.2(DNAH11):c.9640G>T (p.Ala3214Ser)
|
rs141979671
|
|
NM_001277115.2(DNAH11):c.9650A>G (p.Asn3217Ser)
|
|
|
NM_001277115.2(DNAH11):c.9665T>C (p.Val3222Ala)
|
|
|
NM_001277115.2(DNAH11):c.9667A>G (p.Met3223Val)
|
|
|
NM_001277115.2(DNAH11):c.9700A>G (p.Lys3234Glu)
|
|
|
NM_001277115.2(DNAH11):c.9721G>A (p.Ala3241Thr)
|
|
|
NM_001277115.2(DNAH11):c.9750T>C (p.Asp3250=)
|
|
|
NM_001277115.2(DNAH11):c.9767T>C (p.Ile3256Thr)
|
|
|
NM_001277115.2(DNAH11):c.9773A>T (p.Tyr3258Phe)
|
rs182808328
|
|
NM_001277115.2(DNAH11):c.9774T>C (p.Tyr3258=)
|
|
|
NM_001277115.2(DNAH11):c.9783G>T (p.Glu3261Asp)
|
|
|
NM_001277115.2(DNAH11):c.9787A>G (p.Ile3263Val)
|
|
|
NM_001277115.2(DNAH11):c.9790C>T (p.Pro3264Ser)
|
|
|
NM_001277115.2(DNAH11):c.97G>T (p.Val33Leu)
|
|
|
NM_001277115.2(DNAH11):c.9822C>T (p.His3274=)
|
|
|
NM_001277115.2(DNAH11):c.9826T>C (p.Leu3276=)
|
|
|
NM_001277115.2(DNAH11):c.9856A>T (p.Ile3286Phe)
|
|
|
NM_001277115.2(DNAH11):c.9909C>T (p.Ile3303=)
|
|
|
NM_001277115.2(DNAH11):c.9914A>C (p.Lys3305Thr)
|
|
|
NM_001277115.2(DNAH11):c.9915A>G (p.Lys3305=)
|
|
|
NM_001277115.2(DNAH11):c.9920A>G (p.Tyr3307Cys)
|
|
|
NM_001277115.2(DNAH11):c.9955G>A (p.Ala3319Thr)
|
|
|
NM_001277115.2(DNAH11):c.9961G>A (p.Ala3321Thr)
|
|
|
NM_001277115.2(DNAH11):c.9979C>A (p.Leu3327Met)
|
|
|
NM_001277115.2(DNAH11):c.9992C>T (p.Thr3331Ile)
|
|
|
NM_001278293.3(ARL6):c.535+13del
|
|
|
NM_001321218.2(B9D1):c.*61C>T
|
rs11652712
|
|
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe)
|
rs186659284
|
|
NM_001329943.3(KIAA0586):c.1584-5del
|
|
|
NM_001329943.3(KIAA0586):c.199+23del
|
rs537837939
|
|
NM_001329943.3(KIAA0586):c.2944+24dup
|
rs768128741
|
|
NM_001329943.3(KIAA0586):c.2945-9del
|
|
|
NM_001329943.3(KIAA0586):c.3144+15del
|
|
|
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala)
|
rs386777947
|
|
NM_001329943.3(KIAA0586):c.3305-8dup
|
rs5808973
|
|
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup
|
rs5808973
|
|
NM_001329943.3(KIAA0586):c.340+25dup
|
rs770708728
|
|
NM_001329943.3(KIAA0586):c.340+6del
|
|
|
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=)
|
|
|
NM_001329943.3(KIAA0586):c.962-10dup
|
rs1431902070
|
|
NM_001352754.2(ARMC9):c.2205dup (p.Thr736fs)
|
rs35889244
|
|
NM_001352754.2(ARMC9):c.538_539delinsGA (p.Ile180Glu)
|
rs386656198
|
|
NM_001364171.2(ODAD1):c.989-29_989-16del
|
|
|
NM_001369.3(DNAH5):c.10022T>C (p.Leu3341Pro)
|
|
|
NM_001369.3(DNAH5):c.10193G>A (p.Arg3398His)
|
|
|
NM_001369.3(DNAH5):c.10382T>C (p.Val3461Ala)
|
|
|
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln)
|
rs202169624
|
|
NM_001369.3(DNAH5):c.104C>T (p.Ala35Val)
|
|
|
NM_001369.3(DNAH5):c.1090-8T>C
|
rs16902950
|
|
NM_001369.3(DNAH5):c.10948G>A (p.Glu3650Lys)
|
|
|
NM_001369.3(DNAH5):c.11029-10dup
|
|
|
NM_001369.3(DNAH5):c.11129G>A (p.Arg3710His)
|
|
|
NM_001369.3(DNAH5):c.1145G>A (p.Ser382Asn)
|
|
|
NM_001369.3(DNAH5):c.11739A>C (p.Glu3913Asp)
|
|
|
NM_001369.3(DNAH5):c.11913T>G (p.Ile3971Met)
|
|
|
NM_001369.3(DNAH5):c.1198-68C>T
|
rs13180613
|
|
NM_001369.3(DNAH5):c.12033+7A>G
|
rs77541151
|
|
NM_001369.3(DNAH5):c.12033+7del
|
|
|
NM_001369.3(DNAH5):c.12034-10dup
|
rs1179640167
|
|
NM_001369.3(DNAH5):c.12034-6del
|
|
|
NM_001369.3(DNAH5):c.12212G>A (p.Arg4071His)
|
|
|
NM_001369.3(DNAH5):c.1232A>G (p.Tyr411Cys)
|
|
|
NM_001369.3(DNAH5):c.12406A>G (p.Lys4136Glu)
|
|
|
NM_001369.3(DNAH5):c.1256C>A (p.Ser419Tyr)
|
|
|
NM_001369.3(DNAH5):c.12839A>T (p.Asp4280Val)
|
|
|
NM_001369.3(DNAH5):c.12910-15del
|
|
|
NM_001369.3(DNAH5):c.1304C>T (p.Ala435Val)
|
|
|
NM_001369.3(DNAH5):c.13062G>A (p.Ala4354=)
|
rs200924641
|
|
NM_001369.3(DNAH5):c.1321-10del
|
rs767472532
|
|
NM_001369.3(DNAH5):c.1321-4dup
|
|
|
NM_001369.3(DNAH5):c.13358C>T (p.Thr4453Ile)
|
|
|
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)
|
rs370684795
|
|
NM_001369.3(DNAH5):c.13409C>T (p.Ser4470Leu)
|
|
|
NM_001369.3(DNAH5):c.13724-5dup
|
rs1740776209
|
|
NM_001369.3(DNAH5):c.1553T>C (p.Ile518Thr)
|
|
|
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu)
|
rs375037194
|
|
NM_001369.3(DNAH5):c.1644+16A>T
|
|
|
NM_001369.3(DNAH5):c.1669G>A (p.Val557Ile)
|
|
|
NM_001369.3(DNAH5):c.1731-5dup
|
rs1489967874
|
|
NM_001369.3(DNAH5):c.1856A>C (p.Asn619Thr)
|
|
|
NM_001369.3(DNAH5):c.1958C>A (p.Thr653Lys)
|
|
|
NM_001369.3(DNAH5):c.2052+18T>C
|
|
|
NM_001369.3(DNAH5):c.2259+20del
|
|
|
NM_001369.3(DNAH5):c.2260-444_2260-125del
|
|
|
NM_001369.3(DNAH5):c.2260-449_2260-153del
|
|
|
NM_001369.3(DNAH5):c.2432-13dup
|
rs2151949072
|
|
NM_001369.3(DNAH5):c.2480G>A (p.Arg827His)
|
|
|
NM_001369.3(DNAH5):c.2513C>T (p.Thr838Met)
|
|
|
NM_001369.3(DNAH5):c.251A>G (p.Tyr84Cys)
|
|
|
NM_001369.3(DNAH5):c.2578-10_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-11_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-25dup
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-8_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-9_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr)
|
rs540038644
|
|
NM_001369.3(DNAH5):c.2722A>C (p.Asn908His)
|
|
|
NM_001369.3(DNAH5):c.278-5del
|
|
|
NM_001369.3(DNAH5):c.3098C>A (p.Thr1033Asn)
|
|
|
NM_001369.3(DNAH5):c.3263-3del
|
rs2151929250
|
|
NM_001369.3(DNAH5):c.3263-9del
|
|
|
NM_001369.3(DNAH5):c.3263-9dup
|
|
|
NM_001369.3(DNAH5):c.3438C>G (p.His1146Gln)
|
|
|
NM_001369.3(DNAH5):c.343G>A (p.Val115Met)
|
|
|
NM_001369.3(DNAH5):c.3676C>T (p.Arg1226Trp)
|
|
|
NM_001369.3(DNAH5):c.3776C>T (p.Ala1259Val)
|
|
|
NM_001369.3(DNAH5):c.3835-16del
|
rs746415006
|
|
NM_001369.3(DNAH5):c.3835-3del
|
rs35398031
|
|
NM_001369.3(DNAH5):c.3835-4_3835-3del
|
rs35398031
|
|
NM_001369.3(DNAH5):c.3835-4_3835-3dup
|
rs35398031
|
|
NM_001369.3(DNAH5):c.38G>A (p.Ser13Asn)
|
|
|
NM_001369.3(DNAH5):c.40G>T (p.Val14Phe)
|
|
|
NM_001369.3(DNAH5):c.4254G>A (p.Leu1418=)
|
rs548183364
|
|
NM_001369.3(DNAH5):c.4436G>T (p.Cys1479Phe)
|
|
|
NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu)
|
rs144958262
|
|
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)
|
|
|
NM_001369.3(DNAH5):c.4797-93C>A
|
rs1867677
|
|
NM_001369.3(DNAH5):c.4807C>A (p.Pro1603Thr)
|
rs369137751
|
|
NM_001369.3(DNAH5):c.5050A>G (p.Thr1684Ala)
|
|
|
NM_001369.3(DNAH5):c.5115-14del
|
rs774650371
|
|
NM_001369.3(DNAH5):c.5115-49G>C
|
rs10041099
|
|
NM_001369.3(DNAH5):c.5272-15del
|
rs35337694
|
|
NM_001369.3(DNAH5):c.625G>A (p.Val209Ile)
|
|
|
NM_001369.3(DNAH5):c.6580-3del
|
|
|
NM_001369.3(DNAH5):c.6580-9dup
|
rs745608527
|
|
NM_001369.3(DNAH5):c.6710A>G (p.Asn2237Ser)
|
|
|
NM_001369.3(DNAH5):c.6842-14T>C
|
|
|
NM_001369.3(DNAH5):c.6989-9del
|
|
|
NM_001369.3(DNAH5):c.713C>T (p.Thr238Met)
|
|
|
NM_001369.3(DNAH5):c.7309C>T (p.Arg2437Cys)
|
|
|
NM_001369.3(DNAH5):c.7391G>T (p.Gly2464Val)
|
|
|
NM_001369.3(DNAH5):c.7408-18del
|
|
|
NM_001369.3(DNAH5):c.7408-18dup
|
|
|
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)
|
rs531393117
|
|
NM_001369.3(DNAH5):c.7556C>T (p.Pro2519Leu)
|
|
|
NM_001369.3(DNAH5):c.7601C>T (p.Ala2534Val)
|
|
|
NM_001369.3(DNAH5):c.7752+18dup
|
|
|
NM_001369.3(DNAH5):c.7753-19del
|
rs369652511
|
|
NM_001369.3(DNAH5):c.7753-19dup
|
rs369652511
|
|
NM_001369.3(DNAH5):c.7888-6del
|
rs745582136
|
|
NM_001369.3(DNAH5):c.793G>A (p.Glu265Lys)
|
|
|
NM_001369.3(DNAH5):c.799-13del
|
|
|
NM_001369.3(DNAH5):c.799-13dup
|
|
|
NM_001369.3(DNAH5):c.799-17del
|
|
|
NM_001369.3(DNAH5):c.8174C>G (p.Ser2725Cys)
|
|
|
NM_001369.3(DNAH5):c.8225-8del
|
rs2126901397
|
|
NM_001369.3(DNAH5):c.8575A>G (p.Lys2859Glu)
|
rs776408335
|
|
NM_001369.3(DNAH5):c.8746C>G (p.Leu2916Val)
|
|
|
NM_001369.3(DNAH5):c.88C>A (p.Arg30=)
|
rs114220185
|
|
NM_001369.3(DNAH5):c.9106-4del
|
|
|
NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln)
|
rs113742238
|
|
NM_001369.3(DNAH5):c.9404T>C (p.Ile3135Thr)
|
|
|
NM_001369.3(DNAH5):c.9472G>A (p.Glu3158Lys)
|
|
|
NM_001369.3(DNAH5):c.9481G>T (p.Val3161Phe)
|
|
|
NM_001369.3(DNAH5):c.9606-18T>C
|
rs374561149
|
|
NM_001369.3(DNAH5):c.9721-8del
|
rs560450857
|
|
NM_001369.3(DNAH5):c.976-16del
|
|
|
NM_001369.3(DNAH5):c.9898-11T>G
|
|
|
NM_001372.4(DNAH9):c.11014C>A (p.Arg3672=)
|
rs112905609
|
|
NM_001372.4(DNAH9):c.3369T>C (p.Asp1123=)
|
rs8071438
|
|
NM_001372.4(DNAH9):c.9744C>G (p.Pro3248=)
|
rs12449553
|
|
NM_001375405.1(CEP120):c.1039-3del
|
|
|
NM_001375405.1(CEP120):c.1431-11_1431-10dup
|
|
|
NM_001375405.1(CEP120):c.1431-7del
|
rs34328840
|
|
NM_001375405.1(CEP120):c.1431-9_1431-8insTTTTTTTTTTTT
|
rs1562047830
|
|
NM_001375405.1(CEP120):c.1854A>C (p.Ser618=)
|
rs140836572
|
|
NM_001375405.1(CEP120):c.2014-14del
|
rs766009969
|
|
NM_001375405.1(CEP120):c.2014-14dup
|
|
|
NM_001375405.1(CEP120):c.2104-18_2104-13del
|
rs76942218
|
|
NM_001375405.1(CEP120):c.2197-14G>A
|
|
|
NM_001375405.1(CEP120):c.2581-18=
|
rs485847
|
|
NM_001375405.1(CEP120):c.2840G>A (p.Arg947His)
|
rs2303720
|
|
NM_001375405.1(CEP120):c.779G>A (p.Arg260His)
|
rs189429890
|
|
NM_001377.3(DYNC2H1):c.10043-7dup
|
rs571044263
|
|
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=)
|
rs11225634
|
|
NM_001377.3(DYNC2H1):c.10695+20del
|
|
|
NM_001377.3(DYNC2H1):c.11096-9A>G
|
|
|
NM_001377.3(DYNC2H1):c.11257-11dup
|
|
|
NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT
|
rs3834451
|
|
NM_001377.3(DYNC2H1):c.11494-5dup
|
|
|
NM_001377.3(DYNC2H1):c.11650-6dup
|
|
|
NM_001377.3(DYNC2H1):c.11726-11del
|
|
|
NM_001377.3(DYNC2H1):c.11726-11dup
|
|
|
NM_001377.3(DYNC2H1):c.11935-8A>G
|
|
|
NM_001377.3(DYNC2H1):c.12039+14_12039+15dup
|
|
|
NM_001377.3(DYNC2H1):c.12039+15del
|
|
|
NM_001377.3(DYNC2H1):c.12039+15dup
|
|
|
NM_001377.3(DYNC2H1):c.12457-6dup
|
rs750717754
|
|
NM_001377.3(DYNC2H1):c.12766-7dup
|
rs747006567
|
|
NM_001377.3(DYNC2H1):c.1360+6dup
|
rs2134716056
|
|
NM_001377.3(DYNC2H1):c.1857+19dup
|
|
|
NM_001377.3(DYNC2H1):c.3009A>G (p.Gly1003=)
|
|
|
NM_001377.3(DYNC2H1):c.3574-8del
|
rs5794210
|
|
NM_001377.3(DYNC2H1):c.3574-8dup
|
|
|
NM_001377.3(DYNC2H1):c.3574-9_3574-8del
|
rs5794210
|
|
NM_001377.3(DYNC2H1):c.366+27del
|
|
|
NM_001377.3(DYNC2H1):c.366+27dup
|
rs749527696
|
|
NM_001377.3(DYNC2H1):c.4128-10del
|
|
|
NM_001377.3(DYNC2H1):c.4128-10dup
|
|
|
NM_001377.3(DYNC2H1):c.4260+11del
|
rs566083620
|
|
NM_001377.3(DYNC2H1):c.4260+21del
|
|
|
NM_001377.3(DYNC2H1):c.4261-6dup
|
|
|
NM_001377.3(DYNC2H1):c.4492-19T>C
|
|
|
NM_001377.3(DYNC2H1):c.5675-5dup
|
|
|
NM_001377.3(DYNC2H1):c.6140-20C>T
|
|
|
NM_001377.3(DYNC2H1):c.622-5dup
|
|
|
NM_001377.3(DYNC2H1):c.7141-8del
|
|
|
NM_001377.3(DYNC2H1):c.7293-3del
|
|
|
NM_001377.3(DYNC2H1):c.7293-3dup
|
|
|
NM_001377.3(DYNC2H1):c.7503A>G (p.Gln2501=)
|
|
|
NM_001377.3(DYNC2H1):c.7540+14G>A
|
rs115273161
|
|
NM_001377.3(DYNC2H1):c.7540+14G>T
|
rs115273161
|
|
NM_001377.3(DYNC2H1):c.766+15del
|
|
|
NM_001377.3(DYNC2H1):c.7840-6dup
|
rs886047567
|
|
NM_001377.3(DYNC2H1):c.8540-5del
|
|
|
NM_001377.3(DYNC2H1):c.8540-5dup
|
|
|
NM_001377.3(DYNC2H1):c.9231+9del
|
|
|
NM_001377.3(DYNC2H1):c.9819+25del
|
rs748459541
|
|
NM_001377.3(DYNC2H1):c.9819+25dup
|
rs748459541
|
|
NM_001377.3(DYNC2H1):c.9820-8del
|
|
|
NM_001377.3(DYNC2H1):c.9919-11dup
|
|
|
NM_001378183.1(PIEZO2):c.2170-19_2170-18del
|
rs11468237
|
|
NM_001378183.1(PIEZO2):c.7953-9del
|
rs5823112
|
|
NM_001378454.1(ALMS1):c.10213+12G>A
|
rs527508238
|
|
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys)
|
rs533965968
|
|
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg)
|
rs549156484
|
|
NM_001378454.1(ALMS1):c.11548-11del
|
|
|
NM_001378454.1(ALMS1):c.11548-5del
|
rs775257923
|
|
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys)
|
rs3813227
|
|
NM_001378454.1(ALMS1):c.12115-8del
|
rs748193431
|
|
NM_001378454.1(ALMS1):c.12115-8dup
|
rs748193431
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+17del
|
rs563514664
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG
|
rs1064795877
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu)
|
rs138921247
|
|
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=)
|
rs77517267
|
|
NM_001378454.1(ALMS1):c.325-4dup
|
|
|
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[14] (p.Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.4238G>C (p.Gly1413Ala)
|
rs886038612
|
|
NM_001378454.1(ALMS1):c.5620A>G (p.Lys1874Glu)
|
rs886038614
|
|
NM_001378454.1(ALMS1):c.61del (p.Glu21fs)
|
rs753006733
|
|
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=)
|
rs756959656
|
|
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup)
|
rs746896173
|
|
NM_001378454.1(ALMS1):c.9540-7dup
|
rs750386293
|
|
NM_001378454.1(ALMS1):c.9767C>G (p.Ser3256Cys)
|
rs200922218
|
|
NM_001378454.1(ALMS1):c.9782-11dup
|
rs1553414055
|
|
NM_001378615.1(CC2D2A):c.1607+12del
|
|
|
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)
|
rs16892134
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
NM_001378615.1(CC2D2A):c.248-16del
|
|
|
NM_001378615.1(CC2D2A):c.2922+10dup
|
rs752271495
|
|
NM_001378615.1(CC2D2A):c.40-122A>C
|
rs9993580
|
|
NM_001378615.1(CC2D2A):c.4066-12del
|
rs752759735
|
|
NM_001378615.1(CC2D2A):c.439-13del
|
|
|
NM_001378615.1(CC2D2A):c.4675-9dup
|
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
NM_001382391.1(CSPP1):c.-10-5del
|
|
|
NM_001382391.1(CSPP1):c.-10-5dup
|
rs536000854
|
|
NM_001382391.1(CSPP1):c.1023-7dup
|
rs781187284
|
|
NM_001382391.1(CSPP1):c.1288-12dup
|
rs759923250
|
|
NM_001382391.1(CSPP1):c.1619-8del
|
|
|
NM_001382391.1(CSPP1):c.200-5del
|
|
|
NM_001382391.1(CSPP1):c.200-5dup
|
rs775661180
|
|
NM_001382391.1(CSPP1):c.2128+25_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+34_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+35_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2392-8_2392-4del
|
rs528357182
|
|
NM_001382391.1(CSPP1):c.2539-4del
|
rs754861164
|
|
NM_001382391.1(CSPP1):c.3330+17del
|
|
|
NM_001382391.1(CSPP1):c.385-16del
|
|
|
NM_001382391.1(CSPP1):c.385-9dup
|
|
|
NM_001384732.1(CPLANE1):c.*441A>C
|
rs7712558
|
|
NM_001384732.1(CPLANE1):c.2746+16del
|
rs751625561
|
|
NM_001394148.2(LOC128706665):c.-56_-47dup
|
rs16996729
|
|
NM_001394966.1(NEK10):c.2061C>G (p.Thr687=)
|
rs3213930
|
|
NM_001481.3(GAS8):c.*9dup
|
rs3833069
|
|
NM_001481.3(GAS8):c.1395A>G (p.Thr465=)
|
rs3743825
|
|
NM_001481.3(GAS8):c.245G>A (p.Arg82Gln)
|
rs884928
|
|
NM_003114.5(SPAG1):c.1338C>G (p.Ala446=)
|
rs2514681
|
|
NM_003114.5(SPAG1):c.1856-10dup
|
|
|
NM_003114.5(SPAG1):c.1942G>A (p.Glu648Lys)
|
|
|
NM_003114.5(SPAG1):c.427-11del
|
rs2132256971
|
|
NM_003114.5(SPAG1):c.427-3dup
|
|
|
NM_003611.3(OFD1):c.1129+15dup
|
|
|
NM_003611.3(OFD1):c.1412-11del
|
rs36052228
|
|
NM_003611.3(OFD1):c.2052C>G (p.Ser684=)
|
rs61742891
|
|
NM_003611.3(OFD1):c.2052C>T (p.Ser684=)
|
rs61742891
|
|
NM_003611.3(OFD1):c.2179G>A (p.Gly727Arg)
|
|
|
NM_003611.3(OFD1):c.2488+14_2488+19del
|
rs781190242
|
|
NM_003611.3(OFD1):c.2996+16AC[2]
|
rs761270089
|
|
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu)
|
rs758646234
|
|
NM_003611.3(OFD1):c.3027C>T (p.Asp1009=)
|
rs758646234
|
|
NM_003611.3(OFD1):c.396T>A (p.Asp132Glu)
|
|
|
NM_003611.3(OFD1):c.517+13_517+14delinsGC
|
rs2146959704
|
|
NM_003611.3(OFD1):c.675C>G (p.Thr225=)
|
rs781665189
|
|
NM_005427.4(TP73):c.-20C>T
|
|
|
NM_005427.4(TP73):c.519C>T (p.Thr173=)
|
|
|
NM_005427.4(TP73):c.985+15A>G
|
|
|
NM_006346.4(PIBF1):c.1223+15dup
|
rs200683940
|
|
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr)
|
rs115098969
|
|
NM_006642.5(SDCCAG8):c.1357-13dup
|
|
|
NM_006642.5(SDCCAG8):c.2113-5del
|
|
|
NM_006642.5(SDCCAG8):c.307-8dup
|
|
|
NM_012144.4(DNAI1):c.1020-5del
|
|
|
NM_012144.4(DNAI1):c.1020-5dup
|
|
|
NM_012144.4(DNAI1):c.1312-13del
|
|
|
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)
|
rs11547035
|
|
NM_012144.4(DNAI1):c.262-12del
|
rs572785591
|
|
NM_012144.4(DNAI1):c.49-16del
|
|
|
NM_012224.2(NEK1):c.-614C>A
|
rs10520157
|
|
NM_012472.6(DNAAF11):c.1392G>A (p.Pro464=)
|
|
|
NM_012472.6(DNAAF11):c.1392G>C (p.Pro464=)
|
rs146460901
|
|
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)
|
rs141945265
|
|
NM_012472.6(DNAAF11):c.974+18G>A
|
rs185791758
|
|
NM_014704.4(CEP104):c.1083G>A (p.Pro361=)
|
rs61740614
|
|
NM_014704.4(CEP104):c.1317+15_1317+16insAAC
|
rs762038535
|
|
NM_014704.4(CEP104):c.1317+15_1317+16insC
|
|
|
NM_014704.4(CEP104):c.1636G>A (p.Val546Ile)
|
|
|
NM_014704.4(CEP104):c.2111G>A (p.Gly704Glu)
|
rs139181137
|
|
NM_014704.4(CEP104):c.2504-14T>A
|
|
|
NM_014704.4(CEP104):c.490G>T (p.Ala164Ser)
|
rs140856596
|
|
NM_014704.4(CEP104):c.558G>A (p.Thr186=)
|
rs2275822
|
|
NM_014714.4(IFT140):c.1652+13dup
|
|
|
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp)
|
rs540658203
|
|
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly)
|
rs548992623
|
|
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])
|
rs746697405
|
|
NM_014714.4(IFT140):c.4353C>T (p.Asp1451=)
|
|
|
NM_014714.4(IFT140):c.459G>T (p.Thr153=)
|
rs61739554
|
|
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro)
|
rs4786350
|
|
NM_014804.3(KIAA0753):c.507T>C (p.Ser169=)
|
rs2072149
|
|
NM_014956.5(CEP164):c.2466T>C (p.Ser822=)
|
rs563608251
|
|
NM_014956.5(CEP164):c.3216+20_3216+33del
|
rs200103555
|
|
NM_014956.5(CEP164):c.347del (p.Lys116fs)
|
rs751277203
|
|
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
|
|
|
NM_014956.5(CEP164):c.3749-8del
|
rs2047095365
|
|
NM_014956.5(CEP164):c.3931A>C (p.Thr1311Pro)
|
rs756182128
|
|
NM_014956.5(CEP164):c.3937A>C (p.Thr1313Pro)
|
rs758240656
|
|
NM_014956.5(CEP164):c.395C>G (p.Ala132Gly)
|
rs61746874
|
|
NM_014956.5(CEP164):c.3999A>G (p.Gln1333=)
|
rs201718007
|
|
NM_014956.5(CEP164):c.4096+19G>A
|
|
|
NM_014956.5(CEP164):c.688-7T>C
|
rs539939395
|
|
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro)
|
rs34628045
|
|
NM_015272.5(RPGRIP1L):c.1029+19del
|
|
|
NM_015272.5(RPGRIP1L):c.1104-5dup
|
rs2151199111
|
|
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr)
|
rs200773352
|
|
NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=)
|
rs569208946
|
|
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His)
|
rs574091991
|
|
NM_015272.5(RPGRIP1L):c.230+13dup
|
|
|
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)
|
rs574430009
|
|
NM_015272.5(RPGRIP1L):c.3220+13T>C
|
rs376659273
|
|
NM_015272.5(RPGRIP1L):c.3221-7dup
|
|
|
NM_015272.5(RPGRIP1L):c.3295-8del
|
rs113083177
|
|
NM_015272.5(RPGRIP1L):c.3432+10dup
|
|
|
NM_015272.5(RPGRIP1L):c.3433-20dup
|
|
|
NM_015272.5(RPGRIP1L):c.3617-13del
|
|
|
NM_015272.5(RPGRIP1L):c.3617-13dup
|
rs750499169
|
|
NM_015272.5(RPGRIP1L):c.530-3del
|
rs1567882035
|
|
NM_015272.5(RPGRIP1L):c.632+16del
|
rs559978421
|
|
NM_015512.5(DNAH1):c.1034-12C>T
|
|
|
NM_015512.5(DNAH1):c.11495= (p.Arg3832=)
|
rs1704644099
|
|
NM_015512.5(DNAH1):c.11495G>A (p.Arg3832His)
|
rs365048
|
|
NM_015512.5(DNAH1):c.1286+11G>A
|
rs115799675
|
|
NM_015512.5(DNAH1):c.2337G>T (p.Val779=)
|
rs201723256
|
|
NM_015512.5(DNAH1):c.2527-18G>T
|
rs189852410
|
|
NM_015512.5(DNAH1):c.3694-16CCCCT[3]
|
rs544767337
|
|
NM_015512.5(DNAH1):c.4080C>T (p.Ile1360=)
|
rs199624371
|
|
NM_015512.5(DNAH1):c.4571+16dup
|
rs577051256
|
|
NM_015512.5(DNAH1):c.4987C>T (p.Arg1663Cys)
|
rs17052097
|
|
NM_015512.5(DNAH1):c.5611-9G>A
|
rs3752819
|
|
NM_015512.5(DNAH1):c.5611-9G>C
|
rs3752819
|
|
NM_015512.5(DNAH1):c.5731C>T (p.Leu1911=)
|
rs369636901
|
|
NM_015512.5(DNAH1):c.576C>A (p.Ile192=)
|
rs555661049
|
|
NM_015512.5(DNAH1):c.6526-10_6526-9del
|
rs562893788
|
|
NM_015512.5(DNAH1):c.6666+11C>A
|
|
|
NM_015512.5(DNAH1):c.6666+14C>G
|
rs147159692
|
|
NM_015512.5(DNAH1):c.6666+14del
|
|
|
NM_015512.5(DNAH1):c.7199-3del
|
|
|
NM_015512.5(DNAH1):c.9495+13dup
|
rs1157020793
|
|
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu)
|
rs138495428
|
|
NM_015662.3(IFT172):c.1459C>T (p.Arg487Cys)
|
|
|
NM_015662.3(IFT172):c.1525-17G>A
|
rs187471043
|
|
NM_015662.3(IFT172):c.1525-6C>T
|
|
|
NM_015662.3(IFT172):c.184-14_184-11del
|
|
|
NM_015662.3(IFT172):c.184-23dup
|
rs747166252
|
|
NM_015662.3(IFT172):c.2023-5dup
|
|
|
NM_015662.3(IFT172):c.2877+48T>G
|
rs780106
|
|
NM_015681.6(B9D1):c.63+19dup
|
rs2152278724
|
|
NM_015896.4(ZMYND10):c.92+14G>A
|
|
|
NM_015910.7(WDPCP):c.*624_*625del
|
rs139878372
|
|
NM_015910.7(WDPCP):c.1749-12del
|
|
|
NM_015910.7(WDPCP):c.385-3del
|
rs559429215
|
|
NM_015910.7(WDPCP):c.76-15_76-5del
|
rs780314107
|
|
NM_015910.7(WDPCP):c.924A>G (p.Val308=)
|
rs201844706
|
|
NM_016008.4(DYNC2LI1):c.98T>C (p.Phe33Ser)
|
rs2288709
|
|
NM_016343.4(CENPF):c.2101A>G (p.Met701Val)
|
rs3795524
|
|
NM_016343.4(CENPF):c.2444G>A (p.Arg815His)
|
rs3795522
|
|
NM_016343.4(CENPF):c.9318C>G (p.Asn3106Lys)
|
rs7289
|
|
NM_016464.5(TMEM138):c.129-11dup
|
|
|
NM_016616.5(NME8):c.1007G>A (p.Arg336His)
|
rs62001869
|
|
NM_016616.5(NME8):c.1140-8del
|
|
|
NM_016616.5(NME8):c.1478_1479delinsCT (p.Ile493Thr)
|
rs386712272
|
|
NM_016616.5(NME8):c.455-5dup
|
|
|
NM_016616.5(NME8):c.91+15del
|
|
|
NM_017777.4(MKS1):c.1096-5del
|
rs2143753890
|
|
NM_017777.4(MKS1):c.1588+10del
|
|
|
NM_017777.4(MKS1):c.52C>A (p.Arg18=)
|
rs557896607
|
|
NM_017777.4(MKS1):c.645-13del
|
|
|
NM_017777.4(MKS1):c.915+19_915+21del
|
rs3217067
|
|
NM_017802.4(DNAAF5):c.1024+11G>T
|
rs201554395
|
|
NM_017802.4(DNAAF5):c.1615-101G>A
|
rs4495324
|
|
NM_017802.4(DNAAF5):c.1718C>T (p.Ser573Leu)
|
|
|
NM_017802.4(DNAAF5):c.2082+32C>G
|
rs6973746
|
|
NM_017802.4(DNAAF5):c.2082+8del
|
rs878855035
|
|
NM_017802.4(DNAAF5):c.707A>T (p.His236Leu)
|
rs115058579
|
|
NM_017802.4(DNAAF5):c.906-125T>G
|
rs6943174
|
|
NM_017868.4(TTC12):c.1816+30T>C
|
rs719802
|
|
NM_017950.4(CCDC40):c.1160-15dup
|
|
|
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys)
|
rs59978698
|
|
NM_017950.4(CCDC40):c.1889_1890delinsTG (p.Ala630Val)
|
rs386799737
|
|
NM_017950.4(CCDC40):c.2620-18G>A
|
|
|
NM_017950.4(CCDC40):c.2832+462_2832+463insCAC
|
rs10693712
|
|
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His)
|
rs61686936
|
|
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu)
|
rs61686936
|
|
NM_017950.4(CCDC40):c.677-3del
|
rs886038641
|
|
NM_018051.5(DYNC2I1):c.1702+14C>G
|
|
|
NM_018051.5(DYNC2I1):c.1922-4del
|
rs113911955
|
|
NM_018051.5(DYNC2I1):c.2868G>A (p.Ala956=)
|
|
|
NM_018051.5(DYNC2I1):c.313_315del (p.Lys105del)
|
rs3833679
|
|
NM_018076.5(ODAD2):c.1273G>T (p.Asp425Tyr)
|
rs147175768
|
|
NM_018076.5(ODAD2):c.1534-10del
|
rs549508936
|
|
NM_018076.5(ODAD2):c.1534-18dup
|
rs549508936
|
|
NM_018076.5(ODAD2):c.1743+31T>G
|
rs3824590
|
|
NM_018076.5(ODAD2):c.1986+13G>A
|
rs143096939
|
|
NM_018076.5(ODAD2):c.1997G>A (p.Arg666Gln)
|
rs35472668
|
|
NM_018076.5(ODAD2):c.1997G>C (p.Arg666Pro)
|
rs35472668
|
|
NM_018076.5(ODAD2):c.2253-20C>T
|
|
|
NM_018076.5(ODAD2):c.383-6del
|
rs10599433
|
|
NM_018139.3(DNAAF2):c.411C>A (p.Ser137Arg)
|
rs541232616
|
|
NM_018718.3(CEP41):c.*3526dup
|
rs3839655
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
NM_018718.3(CEP41):c.575-14del
|
rs144531086
|
|
NM_018718.3(CEP41):c.758-14dup
|
rs1156468685
|
|
NM_018719.5(CDCA7L):c.*1327dup
|
|
|
NM_018719.5(CDCA7L):c.*551CACTGGA[1]
|
rs113860457
|
|
NM_019892.6(INPP5E):c.1034+8G>A
|
rs201272028
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG
|
rs71269007
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG
|
rs71269007
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGGAGG
|
rs71269007
|
|
NM_019892.6(INPP5E):c.1160-9del
|
rs756109971
|
|
NM_019892.6(INPP5E):c.1521C>T (p.His507=)
|
rs10870188
|
|
NM_019892.6(INPP5E):c.1549+17del
|
rs761489335
|
|
NM_019892.6(INPP5E):c.1549+17dup
|
|
|
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)
|
rs368026621
|
|
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)
|
rs10870182
|
|
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)
|
rs10870182
|
|
NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu)
|
|
|
NM_019892.6(INPP5E):c.812+7_812+10del
|
rs5901103
|
|
NM_020779.4(WDR35):c.*978A>G
|
rs149444449
|
|
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro)
|
rs76623454
|
|
NM_020779.4(WDR35):c.1846-11dup
|
rs754138477
|
|
NM_020779.4(WDR35):c.24+17dup
|
|
|
NM_020779.4(WDR35):c.2622A>T (p.Pro874=)
|
|
|
NM_020800.3(IFT80):c.1381-14dup
|
rs762163693
|
|
NM_020800.3(IFT80):c.1665-7del
|
rs769406658
|
|
NM_020800.3(IFT80):c.1665-7dup
|
rs769406658
|
|
NM_020800.3(IFT80):c.1755A>C (p.Ile585=)
|
|
|
NM_020800.3(IFT80):c.2224-10del
|
rs58665245
|
|
NM_020800.3(IFT80):c.2224-10dup
|
rs58665245
|
|
NM_020800.3(IFT80):c.2224-19_2224-18dup
|
rs58665245
|
|
NM_020800.3(IFT80):c.282G>A (p.Lys94=)
|
rs548358266
|
|
NM_020800.3(IFT80):c.371-11del
|
rs34613811
|
|
NM_020800.3(IFT80):c.371-11dup
|
|
|
NM_020800.3(IFT80):c.440-18del
|
rs199675485
|
|
NM_020800.3(IFT80):c.440-27dup
|
rs199675485
|
|
NM_020800.3(IFT80):c.958-8T>C
|
rs752430715
|
|
NM_021147.5(CCNO):c.382-19C>G
|
rs334892
|
|
NM_021147.5(CCNO):c.895C>T (p.Arg299Trp)
|
|
|
NM_023036.6(DNAI2):c.123C>T (p.Phe41=)
|
rs542439989
|
|
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=)
|
rs9908476
|
|
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=)
|
rs9908476
|
|
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala)
|
rs576683556
|
|
NM_023036.6(DNAI2):c.724+158G>A
|
rs9905633
|
|
NM_023036.6(DNAI2):c.724+24del
|
rs771046755
|
|
NM_023036.6(DNAI2):c.724+24dup
|
|
|
NM_023036.6(DNAI2):c.987+17G>T
|
|
|
NM_024649.5(BBS1):c.125-14C>T
|
|
|
NM_024649.5(BBS1):c.591+10_591+11dup
|
rs770545908
|
|
NM_024649.5(BBS1):c.591+11del
|
|
|
NM_024649.5(BBS1):c.951+11dup
|
|
|
NM_024685.4(BBS10):c.1074G>A (p.Ser358=)
|
rs551803123
|
|
NM_024685.4(BBS10):c.198-12dup
|
rs764036894
|
|
NM_024685.4(BBS10):c.198-7del
|
|
|
NM_024753.5(TTC21B):c.114C>G (p.Val38=)
|
rs34486024
|
|
NM_024753.5(TTC21B):c.1900-17del
|
rs1312196560
|
|
NM_024753.5(TTC21B):c.21+2TGAGCGGG[5]
|
rs59477041
|
|
NM_024753.5(TTC21B):c.21+33_21+34insGCGGGTGAGCGG
|
rs569432248
|
|
NM_024753.5(TTC21B):c.2569-10dup
|
rs144600502
|
|
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=)
|
rs115504901
|
|
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=)
|
rs115504901
|
|
NM_024753.5(TTC21B):c.430-5del
|
|
|
NM_024753.5(TTC21B):c.553-13del
|
rs749999474
|
|
NM_024753.5(TTC21B):c.711-8del
|
|
|
NM_024753.5(TTC21B):c.863T>C (p.Phe288Ser)
|
|
|
NM_024753.5(TTC21B):c.895-9del
|
|
|
NM_024753.5(TTC21B):c.895-9dup
|
rs752610067
|
|
NM_024809.5(TCTN2):c.*330_*331insACTC
|
rs56918215
|
|
NM_024809.5(TCTN2):c.1506-17G>A
|
|
|
NM_025114.4(CEP290):c.181-10del
|
rs1302625844
|
|
NM_025114.4(CEP290):c.181-10dup
|
|
|
NM_025114.4(CEP290):c.1825-17CT[2]
|
rs367600498
|
|
NM_025114.4(CEP290):c.2052+15dup
|
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2218-13dup
|
rs143621850
|
|
NM_025114.4(CEP290):c.2218-5del
|
rs143621850
|
|
NM_025114.4(CEP290):c.2268= (p.Ser756=)
|
rs2468255
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.2484-3dup
|
|
|
NM_025114.4(CEP290):c.2484-9del
|
rs1189055838
|
|
NM_025114.4(CEP290):c.251-11del
|
rs752284551
|
|
NM_025114.4(CEP290):c.251-19dup
|
rs752284551
|
|
NM_025114.4(CEP290):c.3574-10_3574-9del
|
|
|
NM_025114.4(CEP290):c.3574-16dup
|
rs10717563
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.4195-3del
|
|
|
NM_025114.4(CEP290):c.4195-3dup
|
|
|
NM_025114.4(CEP290):c.441+18del
|
|
|
NM_025114.4(CEP290):c.441+18dup
|
|
|
NM_025114.4(CEP290):c.442-11del
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22_442-21dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.495+8dup
|
|
|
NM_025114.4(CEP290):c.5227-14del
|
rs747878752
|
|
NM_025114.4(CEP290):c.5227-23dup
|
rs747878752
|
|
NM_025114.4(CEP290):c.5364+14C>T
|
|
|
NM_025114.4(CEP290):c.6270+18del
|
rs371141771
|
|
NM_025114.4(CEP290):c.6522+11_6522+12del
|
|
|
NM_025114.4(CEP290):c.6522+11_6522+12dup
|
|
|
NM_025114.4(CEP290):c.6522+12del
|
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025114.4(CEP290):c.6523-12dup
|
rs1216267478
|
|
NM_025114.4(CEP290):c.6523-6del
|
|
|
NM_025114.4(CEP290):c.669+6del
|
rs761225874
|
|
NM_025114.4(CEP290):c.670-3dup
|
|
|
NM_025114.4(CEP290):c.6819-15del
|
|
|
NM_025114.4(CEP290):c.6819-15dup
|
|
|
NM_025114.4(CEP290):c.7129+18dup
|
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
NM_025114.4(CEP290):c.942+11del
|
|
|
NM_025114.4(CEP290):c.942+4dup
|
rs558914208
|
|
NM_025132.4(WDR19):c.165-6dup
|
|
|
NM_025132.4(WDR19):c.2364-4del
|
rs750106753
|
|
NM_025132.4(WDR19):c.2364-4dup
|
rs750106753
|
|
NM_025132.4(WDR19):c.2364-5_2364-4del
|
|
|
NM_025132.4(WDR19):c.2730-5del
|
rs756429071
|
|
NM_025132.4(WDR19):c.2730-5dup
|
|
|
NM_025132.4(WDR19):c.3566-10del
|
|
|
NM_030578.4(B9D2):c.-4-60_-4-59insT
|
rs3217387
|
|
NM_031427.4(DNAL1):c.*4427del
|
rs398025673
|
|
NM_031427.4(DNAL1):c.*6016del
|
rs10594595
|
|
NM_031885.3(BBS2):c.-191G>T
|
rs16964239
|
|
NM_031885.3(BBS2):c.-242T>C
|
rs12446354
|
|
NM_031885.5(BBS2):c.-137C>G
|
rs77438708
|
|
NM_031885.5(BBS2):c.1527+17del
|
|
|
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)
|
rs560910758
|
|
NM_031885.5(BBS2):c.346-12del
|
rs777667452
|
|
NM_031885.5(BBS2):c.472-13del
|
|
|
NM_031885.5(BBS2):c.534+11del
|
|
|
NM_031885.5(BBS2):c.534+11dup
|
|
|
NM_031885.5(BBS2):c.613-17dup
|
|
|
NM_031885.5(BBS2):c.613-5dup
|
|
|
NM_031885.5(BBS2):c.941-13dup
|
|
|
NM_031924.8(RSPH3):c.992A>C (p.His331Pro)
|
rs78116655
|
|
NM_031924.8(RSPH3):c.9A>G (p.Ser3=)
|
rs10945587
|
|
NM_032930.3(CFAP300):c.110+16A>G
|
rs12804542
|
|
NM_033028.5(BBS4):c.*608G>T
|
rs12898814
|
|
NM_033028.5(BBS4):c.-17C>A
|
rs56368716
|
|
NM_033028.5(BBS4):c.-6G>A
|
rs367543011
|
|
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup)
|
rs752690768
|
|
NM_033028.5(BBS4):c.1451-14del
|
|
|
NM_033028.5(BBS4):c.24+9C>T
|
|
|
NM_033028.5(BBS4):c.28dup (p.Thr10fs)
|
rs113994184
|
|
NM_033028.5(BBS4):c.406-11del
|
|
|
NM_033028.5(BBS4):c.864+12del
|
|
|
NM_033028.5(BBS4):c.864+12dup
|
rs1476015172
|
|
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala)
|
rs113994183
|
|
NM_033124.5(CCDC65):c.1179+14del
|
rs762661201
|
|
NM_052844.4(DYNC2I2):c.1214+16_1214+22del
|
rs548912505
|
|
NM_052844.4(DYNC2I2):c.1551G>A (p.Thr517=)
|
rs148693978
|
|
NM_080860.4(RSPH1):c.654C>T (p.Ala218=)
|
|
|
NM_080860.4(RSPH1):c.727+11C>T
|
rs201392587
|
|
NM_080860.4(RSPH1):c.727+15C>G
|
rs202146973
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_145038.5(DRC1):c.1600-3dup
|
|
|
NM_145038.5(DRC1):c.1746G>C (p.Thr582=)
|
rs148569358
|
|
NM_145038.5(DRC1):c.495T>G (p.Ala165=)
|
rs7423300
|
|
NM_145038.5(DRC1):c.889-9dup
|
rs746818380
|
|
NM_145045.5(ODAD3):c.1675+18dup
|
|
|
NM_145045.5(ODAD3):c.1705G>T (p.Val569Leu)
|
rs544310246
|
|
NM_147127.5(EVC2):c.1146-12dup
|
|
|
NM_147127.5(EVC2):c.1710+16C>T
|
|
|
NM_147127.5(EVC2):c.1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-11_1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-11_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-12_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-20dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.2047-18dup
|
|
|
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His)
|
rs1577169974
|
|
NM_147127.5(EVC2):c.2571C>T (p.Gly857=)
|
rs533262793
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_147127.5(EVC2):c.3272+8G>C
|
rs201800139
|
|
NM_147127.5(EVC2):c.451-16_451-15del
|
rs377541465
|
|
NM_152384.3(BBS5):c.258+14dup
|
|
|
NM_152384.3(BBS5):c.523-5del
|
|
|
NM_152384.3(BBS5):c.619-16_619-15del
|
rs762885469
|
|
NM_152618.3(BBS12):c.580C>A (p.Leu194Ile)
|
rs200300023
|
|
NM_152732.5(RSPH9):c.129G>A (p.Arg43=)
|
|
|
NM_152732.5(RSPH9):c.227+14dup
|
|
|
NM_153240.5(NPHP3):c.3125+7dup
|
rs11396595
|
|
NM_153704.6(TMEM67):c.1960+17dup
|
rs1475466139
|
|
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=)
|
rs137989705
|
|
NM_153704.6(TMEM67):c.2765-6dup
|
|
|
NM_153704.6(TMEM67):c.313-13del
|
rs367575555
|
|
NM_153704.6(TMEM67):c.651+22del
|
|
|
NM_153704.6(TMEM67):c.869+20T>C
|
|
|
NM_153717.3(EVC):c.*1845del
|
rs397690241
|
|
NM_153717.3(EVC):c.1099-167G>C
|
rs6810769
|
|
NM_153717.3(EVC):c.1099-208C>T
|
rs6812234
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
|
|
|
NM_153717.3(EVC):c.1563+185A>G
|
rs12499655
|
|
NM_153717.3(EVC):c.162C>T (p.Arg54=)
|
rs1305323625
|
|
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)
|
rs1383180
|
|
NM_153717.3(EVC):c.1777-6G>A
|
rs565093715
|
|
NM_153717.3(EVC):c.1854C>T (p.Gly618=)
|
rs11737221
|
|
NM_153717.3(EVC):c.2449+15del
|
rs398092136
|
|
NM_153717.3(EVC):c.2449+15dup
|
rs398092136
|
|
NM_153717.3(EVC):c.2449+16del
|
|
|
NM_153717.3(EVC):c.2562-3del
|
|
|
NM_153717.3(EVC):c.2562-4C>G
|
rs60082311
|
|
NM_153717.3(EVC):c.2895-10_2895-9del
|
rs371125826
|
|
NM_153717.3(EVC):c.2895-16_2895-13del
|
rs773917688
|
|
NM_153717.3(EVC):c.612C>T (p.Cys204=)
|
rs553634958
|
|
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
|
|
|
NM_153717.3(EVC):c.802-12_802-11del
|
rs372546602
|
|
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)
|
|
|
NM_170784.3(MKKS):c.986-4dup
|
|
|
NM_176824.3(BBS7):c.*729del
|
rs3217754
|
|
NM_176824.3(BBS7):c.1231-15del
|
|
|
NM_176824.3(BBS7):c.1231-15dup
|
rs747444432
|
|
NM_176824.3(BBS7):c.1372-13dup
|
|
|
NM_176824.3(BBS7):c.166-4del
|
|
|
NM_176824.3(BBS7):c.166-4dup
|
|
|
NM_176824.3(BBS7):c.1677-17del
|
|
|
NM_176824.3(BBS7):c.849+17del
|
|
|
NM_176824.3(BBS7):c.849+17dup
|
|
|
NM_178452.6(DNAAF1):c.1030+11_1030+22del
|
|
|
NM_178452.6(DNAAF1):c.1529-17TTG[2]
|
rs369485504
|
|
NM_178452.6(DNAAF1):c.2065+14dup
|
rs2151282395
|
|
NM_178452.6(DNAAF1):c.864-17_864-14del
|
rs141073777
|
|
NM_181426.2(CCDC39):c.1167+15dup
|
|
|
NM_181426.2(CCDC39):c.1363-13del
|
rs374074877
|
|
NM_181426.2(CCDC39):c.1363-14_1363-13dup
|
|
|
NM_181426.2(CCDC39):c.1363-23dup
|
rs374074877
|
|
NM_181426.2(CCDC39):c.1528-12del
|
|
|
NM_181426.2(CCDC39):c.2266-7dup
|
|
|
NM_181426.2(CCDC39):c.2408G>A (p.Cys803Tyr)
|
rs561458801
|
|
NM_198075.4(LRRC56):c.1400G>A (p.Arg467Gln)
|
rs12793222
|
|
NM_198075.4(LRRC56):c.1519C>G (p.Arg507Gly)
|
rs10902170
|
|
NM_198428.3(BBS9):c.1790-8del
|
|
|
NM_198428.3(BBS9):c.1790-8dup
|
|
|
NM_198428.3(BBS9):c.2633-5dup
|
rs761809109
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTNNNNNNNNNNAGACAACTGGTTAGCCAGGATGGTCTCGTTCGCGGGTACTCCAGATCCACCCGCCTCTGACTCCCAACGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT
|
rs2128114877
|
|
NM_198428.3(BBS9):c.329-7del
|
rs753552530
|
|
NM_198428.3(BBS9):c.329-7dup
|
rs753552530
|
|
NM_198428.3(BBS9):c.442+13dup
|
|
|
NM_198428.3(BBS9):c.531C>A (p.Gly177=)
|
rs113518488
|
|
NM_198428.3(BBS9):c.702+15dup
|
rs756949696
|
|
NM_198525.3(KIF7):c.1221C>T (p.Ala407=)
|
rs886051535
|
|
NM_198525.3(KIF7):c.1789-7C>T
|
rs544015325
|
|
NM_198525.3(KIF7):c.195G>C (p.Ala65=)
|
rs8179066
|
|
NM_198525.3(KIF7):c.2592+11C>A
|
rs78199895
|
|
NM_198525.3(KIF7):c.2592+11C>T
|
rs78199895
|
|
NM_198525.3(KIF7):c.2896-3del
|
|
|
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)
|
rs142032413
|
|
NM_198525.3(KIF7):c.710G>T (p.Arg237Leu)
|
rs529571444
|
|
NM_198525.3(KIF7):c.923+13dup
|
|
|
NM_213607.3(CCDC103):c.276+19del
|
|
|