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_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_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_001377.3(DYNC2H1):c.9107+34G>A
|
rs670464
|
0.93561
|
NM_014956.5(CEP164):c.1482T>C (p.Pro494=)
|
rs897836
|
0.93246
|
NM_001369.3(DNAH5):c.36T>G (p.His12Gln)
|
rs339445
|
0.92715
|
NM_025114.4(CEP290):c.6645+67G>A
|
rs2471512
|
0.92687
|
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_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_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_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_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_001372.4(DNAH9):c.6330C>T (p.Asn2110=)
|
rs3744578
|
0.73791
|
NM_001134831.2(AHI1):c.10+115C>A
|
rs9402709
|
0.73311
|
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_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.33A>G (p.Ile11Met)
|
rs2241714
|
0.71244
|
NM_001378183.1(PIEZO2):c.7952+33C>T
|
rs487037
|
0.70798
|
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_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_017950.4(CCDC40):c.2450-53G>A
|
rs11150840
|
0.65886
|
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_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_017868.4(TTC12):c.504+8G>A
|
rs2303380
|
0.60533
|
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_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_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_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_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
NM_017777.4(MKS1):c.750-105T>C
|
rs3744105
|
0.53777
|
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_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.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_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_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_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_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_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_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_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_002645.4(PIK3C2A):c.3681+46G>A
|
rs2052188
|
0.42654
|
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_001277115.2(DNAH11):c.7290C>T (p.Phe2430=)
|
rs12536928
|
0.42173
|
NM_006642.5(SDCCAG8):c.-47T>A
|
rs3904682
|
0.41725
|
NM_001372.4(DNAH9):c.10243-26G>A
|
rs7211854
|
0.41639
|
NM_001394966.1(NEK10):c.1674A>G (p.Gly558=)
|
rs674303
|
0.41443
|
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=)
|
rs10927011
|
0.41204
|
NM_001369.3(DNAH5):c.192+14C>G
|
rs1530497
|
0.41173
|
NM_198428.3(BBS9):c.*103T>C
|
rs1050719
|
0.40841
|
NM_153717.3(EVC):c.969T>C (p.Asn323=)
|
rs4688963
|
0.40746
|
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg)
|
rs6724782
|
0.40522
|
NM_024753.5(TTC21B):c.2138+48G>A
|
rs7590559
|
0.40515
|
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val)
|
rs6546838
|
0.40153
|
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_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser)
|
rs10193972
|
0.39950
|
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu)
|
rs1530496
|
0.39883
|
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala)
|
rs6546837
|
0.39736
|
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=)
|
rs6554827
|
0.39500
|
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_001378454.1(ALMS1):c.12175C>T (p.Leu4059=)
|
rs1052162
|
0.38498
|
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.*55T>A
|
rs4784319
|
0.37955
|
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_153717.3(EVC):c.1099-19T>C
|
rs899691
|
0.37351
|
NM_001369.3(DNAH5):c.5114+11T>C
|
rs6554820
|
0.37240
|
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_001378183.1(PIEZO2):c.7190+29A>G
|
rs11661737
|
0.36619
|
NM_016343.4(CENPF):c.2890C>T (p.Leu964=)
|
rs3795521
|
0.36604
|
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_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_001369.3(DNAH5):c.9721-12A>T
|
rs12655133
|
0.35219
|
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_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_153717.3(EVC):c.939+4C>T
|
rs2286343
|
0.33466
|
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_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_020779.4(WDR35):c.2915A>G (p.Glu972Gly)
|
rs1191778
|
0.31383
|
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_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=)
|
rs2277860
|
0.29299
|
NM_003114.5(SPAG1):c.2715G>A (p.Ser905=)
|
rs1788190
|
0.28744
|
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_014956.5(CEP164):c.2963C>G (p.Thr988Ser)
|
rs2305830
|
0.28431
|
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_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=)
|
rs3748421
|
0.27525
|
NM_015631.6(TCTN3):c.1204-43T>C
|
rs17461546
|
0.27142
|
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_006642.5(SDCCAG8):c.1473+48dup
|
rs398050192
|
0.26150
|
NM_016343.4(CENPF):c.1482C>G (p.His494Gln)
|
rs2070065
|
0.26083
|
NM_016343.4(CENPF):c.4543G>A (p.Ala1515Thr)
|
rs2666839
|
0.25667
|
NM_001378183.1(PIEZO2):c.7349+31A>C
|
rs3748423
|
0.25652
|
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_001277115.2(DNAH11):c.13162+23C>A
|
rs55714084
|
0.25104
|
NM_024649.5(BBS1):c.1180+116T>C
|
rs3819247
|
0.24920
|
NM_198525.3(KIF7):c.3319-30A>C
|
rs72750748
|
0.24857
|
NM_014714.4(IFT140):c.4041-44T>C
|
rs2076434
|
0.24775
|
NM_002645.4(PIK3C2A):c.3036-37C>A
|
rs147891939
|
0.24758
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe)
|
rs10513155
|
0.23716
|
NM_001394966.1(NEK10):c.1791T>C (p.Asn597=)
|
rs10510594
|
0.23526
|
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_001394966.1(NEK10):c.2247C>G (p.Val749=)
|
rs17680166
|
0.23262
|
NM_001394966.1(NEK10):c.2869+140C>T
|
rs17854381
|
0.23113
|
NM_001394966.1(NEK10):c.2505+22G>T
|
rs11926556
|
0.22899
|
NM_015272.5(RPGRIP1L):c.1401+127A>G
|
rs7192060
|
0.22379
|
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_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_198075.4(LRRC56):c.729G>A (p.Pro243=)
|
rs35537971
|
0.20649
|
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_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)
|
rs73125627
|
0.20422
|
NM_001372.4(DNAH9):c.6584A>G (p.Asn2195Ser)
|
rs3744581
|
0.20356
|
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)
|
rs11793196
|
0.20136
|
NM_001378183.1(PIEZO2):c.2947-36G>A
|
rs7507093
|
0.20120
|
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_014714.4(IFT140):c.2919C>T (p.Ala973=)
|
rs2235640
|
0.19119
|
NM_130810.4(DNAAF4):c.1249G>T (p.Glu417Ter)
|
rs57809907
|
0.18601
|
NM_017950.4(CCDC40):c.3022-48C>T
|
rs72849388
|
0.18249
|
NM_018051.5(DYNC2I1):c.1921+24A>G
|
rs10279428
|
0.18135
|
NM_001372.4(DNAH9):c.2929-18G>A
|
rs73975043
|
0.17999
|
NM_024649.5(BBS1):c.1413C>T (p.Leu471=)
|
rs3816492
|
0.17957
|
NM_023036.6(DNAI2):c.1483G>A (p.Val495Ile)
|
rs28725418
|
0.17848
|
NM_018051.5(DYNC2I1):c.2976C>T (p.Val992=)
|
rs34634437
|
0.16768
|
NM_001377.3(DYNC2H1):c.11256+18C>T
|
rs11225674
|
0.16562
|
NM_031885.5(BBS2):c.613-54C>G
|
rs4784675
|
0.16235
|
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val)
|
rs2288021
|
0.16102
|
NM_198428.3(BBS9):c.263+39A>G
|
rs17169881
|
0.15964
|
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_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg)
|
rs12670130
|
0.14853
|
NM_018051.5(DYNC2I1):c.1137+23T>C
|
rs842703
|
0.14437
|
NM_006346.4(PIBF1):c.672+38G>A
|
rs9543124
|
0.14429
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu)
|
rs3795958
|
0.14109
|
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr)
|
rs10496192
|
0.13807
|
NM_001378615.1(CC2D2A):c.2182-24C>T
|
rs2041673
|
0.13698
|
NM_001377.3(DYNC2H1):c.11649+12C>A
|
rs79978663
|
0.13559
|
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn)
|
rs3820700
|
0.13432
|
NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg)
|
rs117385282
|
0.13197
|
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_014956.5(CEP164):c.1935-5C>G
|
rs897837
|
0.12409
|
NM_023036.6(DNAI2):c.610+31G>A
|
rs62065707
|
0.12287
|
NM_025132.4(WDR19):c.852A>G (p.Ser284=)
|
rs17584431
|
0.11533
|
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys)
|
rs62441683
|
0.11359
|
NM_002645.4(PIK3C2A):c.4243A>G (p.Thr1415Ala)
|
rs11604561
|
0.11089
|
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_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
|
rs2111119
|
0.10881
|
NM_023036.6(DNAI2):c.467+77G>T
|
rs12452656
|
0.10701
|
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)
|
rs10870199
|
0.10324
|
NM_020779.4(WDR35):c.3121+12A>C
|
rs28502265
|
0.10214
|
NM_017950.4(CCDC40):c.873C>T (p.Phe291=)
|
rs2289531
|
0.09951
|
NM_025103.4(IFT74):c.1790C>T (p.Thr597Ile)
|
rs3429
|
0.09433
|
NM_025103.4(IFT74):c.254A>G (p.Lys85Arg)
|
rs11555693
|
0.09345
|
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr)
|
rs17301182
|
0.08896
|
NM_017777.4(MKS1):c.1024+128C>T
|
rs72839966
|
0.08242
|
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_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_016343.4(CENPF):c.5933A>G (p.Asp1978Gly)
|
rs3790646
|
0.07126
|
NM_016343.4(CENPF):c.5302G>A (p.Asp1768Asn)
|
rs3748692
|
0.07122
|
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_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_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_017777.4(MKS1):c.191-44G>A
|
rs73329636
|
0.06658
|
NM_017777.4(MKS1):c.1671G>C (p.Leu557=)
|
rs11548967
|
0.06374
|
NM_001199397.3(NEK1):c.1146T>C (p.Ile382=)
|
rs56064008
|
0.06017
|
NM_030578.4(B9D2):c.*18G>A
|
rs1800468
|
0.05927
|
NM_025103.4(IFT74):c.165A>G (p.Ile55Met)
|
rs10812505
|
0.05909
|
NM_025132.4(WDR19):c.-9A>G
|
rs60800612
|
0.05032
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_015272.5(RPGRIP1L):c.530-29G>A
|
rs74393433
|
0.04932
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
NM_025132.4(WDR19):c.910G>A (p.Val304Ile)
|
rs75964850
|
0.03961
|
NM_016343.4(CENPF):c.6131C>T (p.Ser2044Leu)
|
rs7533166
|
0.03766
|
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser)
|
rs16995209
|
0.03548
|
NM_001372.4(DNAH9):c.8808C>T (p.Asn2936=)
|
rs117790039
|
0.03365
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
NM_014956.5(CEP164):c.1430A>G (p.His477Arg)
|
rs117083334
|
0.02549
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=)
|
rs976529
|
0.02103
|
NM_025132.4(WDR19):c.1357-10T>C
|
rs16995189
|
0.01827
|
NM_183065.4(TMEM107):c.87+22A>C
|
rs78413898
|
0.01477
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr)
|
rs61732031
|
0.01115
|
NM_016343.4(CENPF):c.5635C>T (p.Arg1879Cys)
|
rs61732022
|
0.01110
|
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr)
|
rs115348383
|
0.00917
|
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln)
|
rs138529452
|
0.00883
|
NM_025132.4(WDR19):c.1581C>A (p.Thr527=)
|
rs114689848
|
0.00847
|
NM_001173990.3(TMEM216):c.35-17C>T
|
rs147953784
|
0.00450
|
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys)
|
rs115004914
|
0.00414
|
NM_025132.4(WDR19):c.3183+9G>A
|
rs138318063
|
0.00248
|
NM_025132.4(WDR19):c.2142+12G>A
|
rs149621476
|
0.00246
|
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly)
|
rs150649460
|
0.00222
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
NM_025132.4(WDR19):c.3261+12G>A
|
rs137960733
|
0.00076
|
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)
|
rs75621037
|
0.00065
|
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)
|
rs201874722
|
0.00044
|
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr)
|
rs749672769
|
0.00019
|
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=)
|
rs181975379
|
0.00011
|
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr)
|
rs140895713
|
0.00006
|
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu)
|
rs576113399
|
0.00003
|
NM_001134831.2(AHI1):c.2037-77G>A
|
rs737561
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001173990.3:c.432-11_432-10insA
|
|
|
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)
|
rs890872
|
|
NM_001277115.2(DNAH11):c.11691-20dup
|
rs5882827
|
|
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile)
|
rs12537531
|
|
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=)
|
rs56333627
|
|
NM_001277115.2(DNAH11):c.7626G>A (p.Thr2542=)
|
rs2072221
|
|
NM_001277115.2(DNAH11):c.8797+23T>C
|
rs4355679
|
|
NM_001277115.2(DNAH11):c.9102+20G>A
|
rs60554135
|
|
NM_001321218.2(B9D1):c.*61C>T
|
rs11652712
|
|
NM_001329943.3(KIAA0586):c.3305-8dup
|
rs5808973
|
|
NM_001352754.2(ARMC9):c.2205dup (p.Thr736fs)
|
rs35889244
|
|
NM_001369.3(DNAH5):c.3835-3del
|
rs35398031
|
|
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_001377.3(DYNC2H1):c.3574-8del
|
rs5794210
|
|
NM_001378183.1(PIEZO2):c.2170-19_2170-18del
|
rs11468237
|
|
NM_001378183.1(PIEZO2):c.7953-9del
|
rs5823112
|
|
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys)
|
rs3813227
|
|
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del)
|
rs55889738
|
|
NM_001378615.1(CC2D2A):c.40-122A>C
|
rs9993580
|
|
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_003114.5(SPAG1):c.1338C>G (p.Ala446=)
|
rs2514681
|
|
NM_003611.3(OFD1):c.1412-11del
|
rs36052228
|
|
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_014704.4(CEP104):c.558G>A (p.Thr186=)
|
rs2275822
|
|
NM_014804.3(KIAA0753):c.507T>C (p.Ser169=)
|
rs2072149
|
|
NM_015512.5(DNAH1):c.11495= (p.Arg3832=)
|
rs1704644099
|
|
NM_015662.3(IFT172):c.2877+48T>G
|
rs780106
|
|
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_017802.4(DNAAF5):c.1615-101G>A
|
rs4495324
|
|
NM_017802.4(DNAAF5):c.2082+32C>G
|
rs6973746
|
|
NM_017802.4(DNAAF5):c.906-125T>G
|
rs6943174
|
|
NM_017868.4(TTC12):c.1816+30T>C
|
rs719802
|
|
NM_018051.5(DYNC2I1):c.313_315del (p.Lys105del)
|
rs3833679
|
|
NM_018076.5(ODAD2):c.1743+31T>G
|
rs3824590
|
|
NM_019892.6(INPP5E):c.1521C>T (p.His507=)
|
rs10870188
|
|
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)
|
rs10870182
|
|
NM_019892.6(INPP5E):c.812+7_812+10del
|
rs5901103
|
|
NM_023036.6(DNAI2):c.724+158G>A
|
rs9905633
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_030578.4(B9D2):c.-4-60_-4-59insT
|
rs3217387
|
|
NM_032930.3(CFAP300):c.110+16A>G
|
rs12804542
|
|
NM_145038.5(DRC1):c.495T>G (p.Ala165=)
|
rs7423300
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)
|
rs1383180
|
|
NM_153717.3(EVC):c.1854C>T (p.Gly618=)
|
rs11737221
|
|
NM_153717.3(EVC):c.2449+15del
|
rs398092136
|
|
NM_198075.4(LRRC56):c.1400G>A (p.Arg467Gln)
|
rs12793222
|
|
NM_198075.4(LRRC56):c.1519C>G (p.Arg507Gly)
|
rs10902170
|
|
NM_198525.3(KIF7):c.195G>C (p.Ala65=)
|
rs8179066
|
|