ClinVar Miner

List of variants reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5057
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HGVS dbSNP gnomAD frequency
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

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