ClinVar Miner

List of variants studied for ciliopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5671
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_001277115.2(DNAH11):c.1956C>T (p.Phe652=) rs6963535 0.99232
NM_017950.4(CCDC40):c.207G>C (p.Val69=) rs2289527 0.98631
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
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_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_012210.4(TRIM32):c.*129C>T rs3019 0.93964
NM_001369.3(DNAH5):c.36T>G (p.His12Gln) rs339445 0.92715
NM_001278293.3(ARL6):c.*225G>C rs4857294 0.92035
NM_001199397.3(NEK1):c.*165G>A rs4692721 0.91298
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
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_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_001277115.2(DNAH11):c.3112A>G (p.Thr1038Ala) rs10224537 0.79851
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_001277115.2(DNAH11):c.3630G>A (p.Gln1210=) rs3827657 0.78845
NM_024685.4(BBS10):c.*1051C>T rs3087711 0.77456
NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr) rs1979370 0.77449
NM_153717.3(EVC):c.*2417T>C rs6848370 0.75819
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
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_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612 0.71802
NM_018139.3(DNAAF2):c.*328A>T rs12160 0.70946
NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=) rs2985686 0.70412
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_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
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_018139.3(DNAAF2):c.1482A>G (p.Thr494=) rs2985687 0.65543
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
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_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592 0.64171
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_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_198525.3(KIF7):c.1788+13T>C rs1110060 0.59982
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804 0.59243
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_001277115.2(DNAH11):c.11122G>T (p.Val3708Leu) rs4722064 0.57409
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949 0.57089
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_153717.3(EVC):c.*931T>C rs6840435 0.56030
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913 0.54510
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_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_001277115.2(DNAH11):c.7901A>G (p.Asn2634Ser) rs9639393 0.53316
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_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_012472.6(DNAAF11):c.695C>T (p.Thr232Ile) rs2293979 0.51887
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=) rs2288019 0.51121
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417 0.51079
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_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854 0.49481
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_023036.6(DNAI2):c.1347+7C>T rs2290955 0.46912
NM_001277115.2(DNAH11):c.705C>T (p.Asn235=) rs10950854 0.45869
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_001277115.2(DNAH11):c.101A>T (p.Glu34Val) rs2285944 0.44667
NM_001277115.2(DNAH11):c.100G>T (p.Glu34Ter) rs2285943 0.44658
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val) rs30168 0.44440
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_001369.3(DNAH5):c.1503T>C (p.Ile501=) rs3213936 0.43495
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
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_001277115.2(DNAH11):c.7290C>T (p.Phe2430=) rs12536928 0.42173
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_153717.3(EVC):c.*2617G>A rs3733186 0.41865
NM_006642.5(SDCCAG8):c.-47T>A rs3904682 0.41725
NM_153717.3(EVC):c.*2713C>T rs3733188 0.41663
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_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly) rs9989177 0.40859
NM_198428.3(BBS9):c.*103T>C rs1050719 0.40841
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
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_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_001377.3(DYNC2H1):c.10043-15G>T rs648387 0.39966
NM_001369.3(DNAH5):c.6444+11C>T rs1348691 0.39914
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu) rs1530496 0.39883
NM_002408.4(MGAT2):c.-234T>C rs7519 0.39580
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=) rs6554827 0.39500
NM_001277115.2(DNAH11):c.4449T>C (p.Ile1483=) rs56029521 0.39493
NM_001369.3(DNAH5):c.12910-11C>T rs30175 0.39090
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_017950.4(CCDC40):c.*186A>C rs2304851 0.38175
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_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_001199397.3(NEK1):c.*495T>C rs1129694 0.37477
NM_001369.3(DNAH5):c.5114+11T>C rs6554820 0.37240
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992 0.36928
NM_024809.5(TCTN2):c.*468C>T rs7398298 0.36606
NM_018718.3(CEP41):c.*4295G>C rs4728195 0.36596
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814 0.36518
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_017950.4(CCDC40):c.*15T>C rs2304853 0.35502
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_017950.4(CCDC40):c.676+13T>C rs7212525 0.34974
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=) rs2401809 0.34838
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_014714.4(IFT140):c.*59T>C rs1053730 0.34440
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala) rs10269582 0.34362
NM_181426.2(CCDC39):c.1359C>T (p.Ser453=) rs6769457 0.33560
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_024649.5(BBS1):c.*955G>A rs1791686 0.33323
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_023036.6(DNAI2):c.865-5A>G rs8076337 0.32904
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_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu) rs11644164 0.30436
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_176824.3(BBS7):c.*419T>A rs3762840 0.29292
NM_012210.4(TRIM32):c.*1206T>C rs2281627 0.28741
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr) rs2288023 0.28462
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_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_002055.5(GFAP):c.*28C>G rs11558961 0.27601
NM_001134831.2(AHI1):c.*218C>T rs1052502 0.27386
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320 0.27290
NM_012210.4(TRIM32):c.-133G>C rs12342207 0.27173
NM_176824.3(BBS7):c.*690T>C rs3217753 0.26976
NM_198428.3(BBS9):c.1275+13G>T rs11981364 0.26909
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_213607.3(CCDC103):c.*4G>A rs8079308 0.26209
NM_002055.5(GFAP):c.*1522T>C rs17027 0.26200
NM_018139.3(DNAAF2):c.*126T>A rs8952 0.26193
NM_023036.6(DNAI2):c.-72_-63del rs5822035 0.25810
NM_153717.3(EVC):c.*2268G>A rs4261923 0.25768
NM_213607.2(CCDC103):c.-164T>G rs2277617 0.25672
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_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725 0.24847
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371 0.24759
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155 0.23716
NM_024753.5(TTC21B):c.*1105G>T rs6756388 0.23631
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
NM_024649.5(BBS1):c.*840A>G rs3741360 0.23322
NM_001277115.2(DNAH11):c.5621+11A>T rs59447021 0.23311
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22912
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
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_001277115.2(DNAH11):c.7335G>A (p.Ser2445=) rs11768670 0.20699
NM_153717.3(EVC):c.*1112T>C rs28460555 0.20666
NM_019892.6(INPP5E):c.*98G>A rs35873563 0.20643
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg) rs10078391 0.20605
NM_018719.5(CDCA7L):c.*501T>C rs12700325 0.20592
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_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196 0.20136
NM_031885.3(BBS2):c.-239G>A rs2303284 0.19980
NM_152618.3(BBS12):c.*187dup rs386401352 0.19865
NM_015910.6(WDPCP):c.-396T>G rs2278718 0.19689
NM_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_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_181426.2(CCDC39):c.2397G>A (p.Val799=) rs7612917 0.19015
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_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
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_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_000152.5(GAA):c.-260G>C rs2304849 0.16933
NM_024753.5(TTC21B):c.*517G>A rs77199262 0.16849
NM_181426.2(CCDC39):c.*546A>C rs141409397 0.16785
NM_024753.5(TTC21B):c.*531A>G rs56115495 0.16645
NM_020800.3(IFT80):c.*42G>A rs16831149 0.16470
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_198428.3(BBS9):c.-407C>G rs3750123 0.15979
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_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr) rs9297853 0.15619
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_181426.2(CCDC39):c.1248A>G (p.Glu416=) rs2338436 0.14399
NM_002055.5(GFAP):c.*338C>T rs8067254 0.14346
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_001378454.1(ALMS1):c.*267T>A rs62149804 0.14287
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_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_153717.3(EVC):c.*748T>C rs62297707 0.13967
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493 0.13826
NM_001277115.2(DNAH11):c.11202+13G>A rs73279830 0.13824
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496 0.13621
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663 0.13559
NM_153717.3(EVC):c.*210C>A rs16837692 0.13049
NM_153717.3(EVC):c.*1218C>T rs12501119 0.13032
NM_023036.6(DNAI2):c.834C>T (p.Thr278=) rs34159194 0.12850
NM_153717.3(EVC):c.*3165T>C rs3755847 0.12593
NM_213607.3(CCDC103):c.276+6T>C rs74349463 0.12539
NM_002055.5(GFAP):c.*814T>A rs3744470 0.12217
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=) rs4392792 0.12205
NM_153717.3(EVC):c.*2680G>A rs3733187 0.12188
NM_153717.3(EVC):c.*2871C>T rs3733189 0.12083
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001134831.2(AHI1):c.*396_*397dup rs397885237 0.11907
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met) rs60684213 0.11874
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_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_024753.5(TTC21B):c.*878A>G rs62177807 0.11039
NM_019892.6(INPP5E):c.*926T>C rs1128877 0.10951
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_024685.4(BBS10):c.*769G>C rs73383520 0.10902
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_198428.3(BBS9):c.-259G>A rs73095326 0.10731
NM_002055.5(GFAP):c.*1001G>A rs1042329 0.10683
NM_002055.5(GFAP):c.*1620C>T rs7049 0.10679
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
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_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_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_001199397.3(NEK1):c.2255A>G (p.Glu752Gly) rs34099167 0.09622
NM_181426.2(CCDC39):c.2301G>A (p.Leu767=) rs11914833 0.09489
NM_213607.3(CCDC103):c.-45G>A rs2277616 0.09294
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528 0.09226
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_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
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_018718.2(CEP41):c.-144G>A rs10230435 0.08654
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro) rs17145720 0.08574
NM_017777.4(MKS1):c.*75C>T rs35184412 0.08455
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
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_023073.3(CPLANE1):c.-234G>C rs80164363 0.08017
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_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001199397.3(NEK1):c.1068G>A (p.Arg356=) rs17055010 0.07760
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733 0.07717
NM_001199397.3(NEK1):c.-528G>A rs75976017 0.07715
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_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_001199397.3(NEK1):c.607-3T>C rs55679731 0.07330
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=) rs17144747 0.07116
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_033028.5(BBS4):c.-17C>T rs56368716 0.06844
NM_001178007.1(BBS12):c.-391C>T rs28642232 0.06726
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077 0.06714
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_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
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_001199397.3(NEK1):c.1146T>C (p.Ile382=) rs56064008 0.06017
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
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_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_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_017950.3(CCDC40):c.-36C>T rs73437681 0.05525
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_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly) rs17144835 0.05345
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_178452.6(DNAAF1):c.-83dup rs149813685 0.04983
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_000363.5(TNNI3):c.537G>A (p.Glu179=) rs3729841 0.04860
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_016464.4(TMEM138):c.-308A>G rs7120780 0.04768
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.*7710_*7711dup rs201343251 0.04579
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_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
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_024685.4(BBS10):c.-52C>T rs79580268 0.04214
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr) rs72655988 0.04164
NM_020779.4(WDR35):c.*1127A>G rs75503594 0.04161
NM_181426.2(CCDC39):c.472C>G (p.Leu158Val) rs57838737 0.04150
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_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_198525.3(KIF7):c.-5T>G rs62021460 0.03972
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr) rs113425437 0.03898
NM_153717.3(EVC):c.*908G>A rs13119698 0.03897
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_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_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_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=) rs35504640 0.03388
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_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_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_017950.4(CCDC40):c.2868G>A (p.Lys956=) rs1982243 0.02985
NM_001010892.3(RSPH4A):c.2099C>T (p.Ala700Val) rs9488992 0.02977
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
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_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
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_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956 0.02787
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_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_014714.4(IFT140):c.1682G>A (p.Ser561Asn) rs8050974 0.02675
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_001082538.3(TCTN1):c.473-10T>A rs12307716 0.02637
NM_153717.3(EVC):c.*1060A>C rs71599848 0.02627
NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser) rs112738198 0.02615
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=) rs61744054 0.02551
NM_001369.3(DNAH5):c.8449-12T>C rs111313933 0.02531
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_000152.5(GAA):c.-178G>A rs77514632 0.02487
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=) rs35233147 0.02485
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_170784.3(MKKS):c.*38A>G rs79940214 0.02456
NM_170784.3(MKKS):c.*46G>T rs74703166 0.02454
NM_000152.5(GAA):c.-338C>G rs144639114 0.02435
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_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_001369.3(DNAH5):c.8898G>A (p.Thr2966=) rs111995400 0.02321
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147 0.02316
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_001369.3(DNAH5):c.7274G>A (p.Arg2425His) rs35900306 0.02307
NM_001369.3(DNAH5):c.*649G>C rs77289648 0.02281
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
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_014714.4(IFT140):c.839G>A (p.Arg280Gln) rs35404373 0.02210
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_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=) rs10077457 0.02135
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529 0.02103
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_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_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_015102.5(NPHP4):c.*314T>G rs111874674 0.02020
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_001142301.1(TMEM67):c.-200G>C rs79833026 0.01971
NM_012144.4(DNAI1):c.-178G>C rs3802429 0.01938
NM_019892.6(INPP5E):c.-174G>A rs544247720 0.01935
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_198525.3(KIF7):c.*139C>T rs8037511 0.01904
NM_020779.4(WDR35):c.*2408G>C rs112569580 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_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_178452.6(DNAAF1):c.228C>T (p.His76=) rs61743547 0.01842
NM_001384732.1(CPLANE1):c.*889A>G rs75549748 0.01830
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
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_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_002408.4(MGAT2):c.261G>T (p.Leu87=) rs2228449 0.01763
NM_018719.5(CDCA7L):c.*1052G>A rs72658841 0.01754
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
NM_001277115.2(DNAH11):c.9098T>C (p.Ile3033Thr) rs28751578 0.01743
NM_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_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
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_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_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_153717.3(EVC):c.*1849C>G rs75438311 0.01645
NM_015102.5(NPHP4):c.1611+9C>T rs114900019 0.01637
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
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_017950.4(CCDC40):c.1466G>T (p.Ser489Ile) rs61739354 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_001377.3(DYNC2H1):c.*265C>T rs78537620 0.01600
NM_153717.3(EVC):c.*1083T>G rs71599850 0.01599
NM_001199397.3(NEK1):c.2764+12T>A rs77658514 0.01594
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
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_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
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_019892.6(INPP5E):c.1388-13C>T rs78828148 0.01500
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_001384732.1(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632 0.01487
NM_153717.3(EVC):c.*1123A>G rs112378896 0.01481
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_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_178452.6(DNAAF1):c.-128G>C rs140245131 0.01445
NM_001384732.1(CPLANE1):c.1737G>A (p.Ala579=) rs13356183 0.01427
NM_016464.4(TMEM138):c.-239C>T rs146156958 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_001369.3(DNAH5):c.*1389C>T rs77701143 0.01404
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_001044385.3(TMEM237):c.*3124A>T rs79378497 0.01390
NM_001384732.1(CPLANE1):c.8664-3A>T rs58401892 0.01389
NM_020779.4(WDR35):c.*1129C>T rs76845713 0.01385
NM_020779.4(WDR35):c.*2315G>C rs72779355 0.01383
NM_001277115.2(DNAH11):c.6547-5C>G rs115200161 0.01380
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_001278293.3(ARL6):c.480-8C>T rs77010939 0.01364
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_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_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_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_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950 0.01291
NM_018718.3(CEP41):c.*3765G>T rs138768326 0.01276
NM_000549.5(TSHB):c.-13A>G rs77331078 0.01269
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263 0.01269
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904 0.01256
NM_001277115.2(DNAH11):c.9102+8G>A rs72657374 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_001278293.3(ARL6):c.-240C>T rs116162146 0.01233
NM_017777.4(MKS1):c.-18C>G rs116514023 0.01231
NM_001044385.3(TMEM237):c.-12G>A rs113186360 0.01229
NM_015910.7(WDPCP):c.*604_*605del rs886056219 0.01222
NM_024809.5(TCTN2):c.*67C>T rs112214860 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_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_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280 0.01186
NM_153717.3(EVC):c.*1700C>T rs74690944 0.01179
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_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln) rs35865357 0.01156
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile) rs117169123 0.01149
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_014714.4(IFT140):c.3990G>A (p.Ala1330=) rs61745103 0.01137
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296 0.01135
NM_023036.6(DNAI2):c.55+6G>A rs118104009 0.01132
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489 0.01113
NM_144596.4(TTC8):c.*57C>T rs74079414 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_015102.5(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067 0.01099
NM_001199397.3(NEK1):c.-488C>T rs62334514 0.01094
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01090
NM_001378454.1(ALMS1):c.*154G>C rs77779454 0.01084
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
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_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_012144.4(DNAI1):c.978A>C (p.Gln326His) rs16931555 0.01063
NM_018139.3(DNAAF2):c.144C>A (p.Asn48Lys) rs116185352 0.01062
NM_001278293.3(ARL6):c.*284C>A rs148380165 0.01054
NM_024809.5(TCTN2):c.*45G>A rs142969969 0.01053
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala) rs79386936 0.01017
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_024753.5(TTC21B):c.*974C>G rs145794135 0.01001
NM_024685.4(BBS10):c.*87A>C rs138936387 0.00985
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_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_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_001023570.4(IQCB1):c.-178C>T rs191557781 0.00949
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_170784.3(MKKS):c.-58T>C rs114068950 0.00943
NM_016464.5(TMEM138):c.-24G>A rs116455434 0.00930
NM_012224.2(NEK1):c.-640T>G rs549272215 0.00924
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071 0.00904
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
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_025114.4(CEP290):c.-33G>T rs139415563 0.00894
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_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_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
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_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_176824.3(BBS7):c.*1202G>A rs3217756 0.00843
NM_001369.3(DNAH5):c.*1502C>T rs144265705 0.00842
NM_001277115.2(DNAH11):c.-27C>A rs72655966 0.00836
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_198525.3(KIF7):c.3012C>T (p.Arg1004=) rs61741227 0.00828
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser) rs77289466 0.00827
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_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_012472.6(DNAAF11):c.*239T>C rs116329113 0.00799
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) rs16822802 0.00798
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407 0.00785
NM_147127.5(EVC2):c.*394A>G rs138063943 0.00784
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_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_001277115.2(DNAH11):c.5359T>C (p.Leu1787=) rs75932225 0.00755
NM_153717.3(EVC):c.*922G>A rs71599840 0.00749
NM_181426.2(CCDC39):c.*325C>T rs73883902 0.00748
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810 0.00730
NM_001369.3(DNAH5):c.*775G>A rs146040448 0.00728
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_001082538.3(TCTN1):c.220+12G>C rs76843552 0.00719
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057 0.00713
NM_198428.3(BBS9):c.1694-6T>C rs28622379 0.00710
NM_014714.4(IFT140):c.*63A>G rs149678731 0.00706
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=) rs140498500 0.00702
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_014714.4(IFT140):c.322G>A (p.Val108Met) rs146128830 0.00695
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556 0.00689
NM_018718.3(CEP41):c.*1512C>T rs73721889 0.00689
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_001010892.3(RSPH4A):c.*250G>T rs58311062 0.00681
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819 0.00679
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_152732.5(RSPH9):c.263C>T (p.Ala88Val) rs35110984 0.00656
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
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_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00645
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_001384732.1(CPLANE1):c.*396T>C rs115541718 0.00638
NM_001378615.1(CC2D2A):c.-18-2673G>A rs183968785 0.00636
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_001243156.2(TAF1C):c.*1033A>G rs4150186 0.00632
NM_153240.5(NPHP3):c.*759G>A rs116338839 0.00632
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
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_181426.2(CCDC39):c.*134A>T rs190913291 0.00626
NM_153240.5(NPHP3):c.*815G>A rs141464909 0.00625
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_001173990.3(TMEM216):c.*21A>G rs111371929 0.00615
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_012144.4(DNAI1):c.179C>T (p.Ala60Val) rs16931549 0.00609
NM_024649.5(BBS1):c.*187C>T rs148117167 0.00609
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983 0.00607
NM_031885.5(BBS2):c.*13C>T rs141170836 0.00607
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858 0.00606
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.640A>G (p.Ile214Val) rs117064287 0.00595
NM_198428.3(BBS9):c.-305T>G rs112060099 0.00592
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_019892.6(INPP5E):c.-239C>G rs562519905 0.00588
NM_033028.5(BBS4):c.*611C>T rs41277724 0.00586
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=) rs144035254 0.00581
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_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_181426.2(CCDC39):c.*545C>A rs555590913 0.00572
NM_017777.4(MKS1):c.*322G>T rs185405908 0.00571
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_015272.5(RPGRIP1L):c.*491C>G rs35669682 0.00564
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_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_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
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_001369.3(DNAH5):c.*1156C>T rs115907706 0.00534
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_020779.4(WDR35):c.*531T>A rs187092318 0.00530
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe) rs61736879 0.00529
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=) rs77477793 0.00527
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_012210.4(TRIM32):c.*692C>G rs116058338 0.00526
NM_181426.2(CCDC39):c.*800G>A rs114500310 0.00525
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_153717.3(EVC):c.*2132A>G rs11939264 0.00524
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=) rs72655977 0.00522
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905 0.00522
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_213607.3(CCDC103):c.*307C>A rs188688493 0.00513
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_170784.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905 0.00508
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
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_181426.2(CCDC39):c.2432G>A (p.Arg811His) rs61733583 0.00485
NM_001044385.3(TMEM237):c.*962A>C rs142403941 0.00484
NM_001044385.3(TMEM237):c.*969A>G rs137925244 0.00484
NM_017950.4(CCDC40):c.630C>T (p.Ser210=) rs117419007 0.00481
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_001082538.3(TCTN1):c.-46G>C rs538932401 0.00473
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=) rs2985688 0.00470
NM_001277115.2(DNAH11):c.6468+14T>C rs114409690 0.00469
NM_001010892.3(RSPH4A):c.*491T>C rs116191088 0.00466
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_019892.6(INPP5E):c.-31G>C rs554931078 0.00466
NM_198525.3(KIF7):c.294A>G (p.Ser98=) rs145049849 0.00465
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 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_001277115.2(DNAH11):c.2275-15G>T rs60290948 0.00458
NM_023036.6(DNAI2):c.747C>T (p.Gly249=) rs148488355 0.00458
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_001258400.2(FAM187A):c.-328C>T rs539555310 0.00449
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=) rs72657379 0.00449
NM_001277115.2(DNAH11):c.4726-15T>C rs17144822 0.00445
NM_153717.3(EVC):c.*2126T>G rs191415414 0.00444
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_001369.3(DNAH5):c.*84C>T rs151143347 0.00442
NM_002055.5(GFAP):c.*1074C>T rs117405516 0.00442
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793 0.00439
NM_178452.5(DNAAF1):c.-172G>A rs558403928 0.00439
NM_015910.7(WDPCP):c.-188G>C rs187916591 0.00436
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_181426.2(CCDC39):c.233G>A (p.Arg78His) rs115952495 0.00435
NM_001369.3(DNAH5):c.6062-4G>A rs143392650 0.00433
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro) rs141149453 0.00430
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val) rs72657373 0.00428
NM_018718.2(CEP41):c.-243G>A rs542293061 0.00425
NM_024753.5(TTC21B):c.*1225C>T rs60399987 0.00424
NM_153717.3(EVC):c.*2708G>A rs79112570 0.00424
NM_033028.5(BBS4):c.*43G>T rs144706746 0.00421
NM_001044385.3(TMEM237):c.*3453T>G rs77771615 0.00420
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_001044385.3(TMEM237):c.*2137A>G rs115353606 0.00418
NM_001044385.3(TMEM237):c.*2349C>T rs74884418 0.00418
NM_001044385.3(TMEM237):c.*3372C>T rs192214909 0.00418
NM_001384732.1(CPLANE1):c.*807A>G rs78011227 0.00418
NM_012144.4(DNAI1):c.-116T>C rs62619982 0.00418
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg) rs113097479 0.00418
NM_001044385.3(TMEM237):c.*1107C>T rs143516209 0.00417
NM_001044385.3(TMEM237):c.*1975C>G rs142233268 0.00417
NM_001044385.3(TMEM237):c.*2719G>A rs142852956 0.00417
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_001044385.3(TMEM237):c.*2180G>A rs77649251 0.00416
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
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_017950.4(CCDC40):c.631G>A (p.Asp211Asn) rs150615436 0.00414
NM_018139.3(DNAAF2):c.1406G>A (p.Cys469Tyr) rs150737854 0.00410
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974 0.00405
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
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_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_001044385.3(TMEM237):c.*1588G>A rs150141936 0.00396
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462 0.00395
NM_153717.3(EVC):c.*1136T>C rs71599852 0.00394
NM_023036.6(DNAI2):c.124G>A (p.Val42Met) rs151176313 0.00389
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849 0.00388
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr) rs145798624 0.00383
NM_001044385.3(TMEM237):c.*2431T>G rs142355657 0.00379
NM_020800.3(IFT80):c.*1089T>C rs181651029 0.00377
NM_020800.3(IFT80):c.*1204G>A rs144132950 0.00376
NM_024753.5(TTC21B):c.*656G>A rs180737925 0.00376
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_018139.3(DNAAF2):c.1851C>T (p.Asn617=) rs147090213 0.00373
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_023036.6(DNAI2):c.759G>A (p.Ala253=) rs142656395 0.00370
NM_000549.5(TSHB):c.*64T>C rs41312672 0.00368
NM_001384732.1(CPLANE1):c.4719C>T (p.Asp1573=) rs143084362 0.00368
NM_015102.5(NPHP4):c.1503+10G>A rs41307782 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 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_153240.5(NPHP3):c.520-10C>G rs200144727 0.00362
NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=) rs187489343 0.00361
NM_198428.3(BBS9):c.*453C>G rs74748415 0.00361
NM_001199397.3(NEK1):c.*551A>T rs181225797 0.00360
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=) rs112350099 0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_001394148.2(LOC128706665):c.*87A>G rs140884406 0.00358
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_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_153717.3(EVC):c.*2285C>G rs145479436 0.00352
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_012144.4(DNAI1):c.639G>A (p.Thr213=) rs78865254 0.00348
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_023073.3(CPLANE1):c.*1369C>A rs116197379 0.00344
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_181426.2(CCDC39):c.930+12C>G rs1401333 0.00338
NM_001044385.3(TMEM237):c.*2480T>G rs75655554 0.00337
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_001277115.2(DNAH11):c.4124G>A (p.Arg1375His) rs151018293 0.00330
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810 0.00328
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00327
NM_017777.3(MKS1):c.-64T>C rs372127517 0.00325
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158 0.00319
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_001128178.3(NPHP1):c.*194T>C rs189472793 0.00318
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_001384732.1(CPLANE1):c.*518T>C rs556117030 0.00315
NM_012210.4(TRIM32):c.*1077C>T rs41266677 0.00314
NM_153717.3(EVC):c.-35C>A rs546318095 0.00314
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_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_018718.3(CEP41):c.*2116T>C rs190709953 0.00306
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile) rs141112088 0.00305
NM_001378615.1(CC2D2A):c.-87G>A rs145443888 0.00305
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=) rs140408058 0.00301
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn) rs115850223 0.00301
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=) rs201207627 0.00299
NM_001369.3(DNAH5):c.4796+11C>A rs146696580 0.00299
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_012224.2(NEK1):c.-654C>T rs72694709 0.00295
NM_017950.4(CCDC40):c.2236-15G>A rs148674510 0.00295
NM_024685.3(BBS10):c.-71C>T rs569445445 0.00293
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=) rs79327004 0.00290
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_018718.3(CEP41):c.*593G>A rs186685101 0.00290
NM_020779.4(WDR35):c.*813A>T rs148210550 0.00290
NM_144596.4(TTC8):c.-25G>A rs7145692 0.00290
NM_153717.3(EVC):c.-36G>A rs577263762 0.00288
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00287
NM_018718.3(CEP41):c.*136T>G rs148305542 0.00287
NM_147127.5(EVC2):c.*90C>T rs115810595 0.00287
NM_153717.3(EVC):c.*491C>T rs114993332 0.00287
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_018718.3(CEP41):c.*4314T>C rs114939029 0.00286
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr) rs141651941 0.00285
NM_001384732.1(CPLANE1):c.7234-7C>G rs141575785 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_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978 0.00283
NM_018718.3(CEP41):c.*4322G>A rs538898722 0.00283
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_152618.3(BBS12):c.-61G>C rs59440868 0.00282
NM_153240.5(NPHP3):c.*1188A>G rs7632096 0.00282
NM_153717.3(EVC):c.*2692G>T rs149155153 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_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NM_181426.2(CCDC39):c.*660A>G rs185867448 0.00276
NM_001369.3(DNAH5):c.*426C>T rs541323896 0.00275
NM_016464.4(TMEM138):c.-479A>C rs192845534 0.00275
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_005465.7(AKT3):c.*5398_*5402dup rs368945100 0.00273
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_147127.5(EVC2):c.*207A>G rs73072282 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873 0.00265
NM_144596.4(TTC8):c.*93G>A rs116740320 0.00263
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu) rs112114400 0.00262
NM_198525.3(KIF7):c.2192-13C>T rs201251064 0.00262
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_213607.3(CCDC103):c.*24C>T rs192397040 0.00261
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 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_024753.5(TTC21B):c.-17C>T rs572065013 0.00252
NM_025132.4(WDR19):c.-15G>T rs150860929 0.00252
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_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_001377.3(DYNC2H1):c.*558T>C rs143796055 0.00247
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 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_018719.5(CDCA7L):c.*963G>C rs79947346 0.00244
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910 0.00242
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_152618.3(BBS12):c.*804A>G rs151076630 0.00240
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
NM_181426.2(CCDC39):c.2299T>C (p.Leu767=) rs200913298 0.00238
NM_198525.3(KIF7):c.*37G>A rs147387691 0.00238
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335 0.00236
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_001277115.2(DNAH11):c.3384C>T (p.Ser1128=) rs79955190 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_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=) rs147804813 0.00233
NM_153717.3(EVC):c.*1248T>G rs559890176 0.00230
NM_012144.4(DNAI1):c.-170T>A rs55750068 0.00229
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile) rs35301526 0.00228
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=) rs79329972 0.00226
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415 0.00224
NM_001010892.3(RSPH4A):c.1917-4A>G rs201826366 0.00223
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser) rs202079418 0.00223
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 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_018718.3(CEP41):c.*1974A>G rs185337247 0.00220
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329 0.00220
NM_001199397.3(NEK1):c.975A>G (p.Gly325=) rs150904906 0.00218
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_012144.4(DNAI1):c.-180G>A rs180838420 0.00215
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=) rs72657400 0.00213
NM_023036.6(DNAI2):c.*299A>G rs189443329 0.00213
NM_024753.5(TTC21B):c.*1087A>T rs150328867 0.00213
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00213
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972 0.00212
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_181426.2(CCDC39):c.*643C>T rs190149639 0.00211
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_001044385.3(TMEM237):c.*439G>A rs139374574 0.00208
NM_001044385.3(TMEM237):c.*634C>T rs139016907 0.00207
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00205
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472 0.00205
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_001173990.3(TMEM216):c.*107G>T rs535550368 0.00203
NM_017950.4(CCDC40):c.1275C>T (p.Ala425=) rs145013523 0.00203
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_015272.5(RPGRIP1L):c.*1385A>G rs150194508 0.00201
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 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_018718.3(CEP41):c.*3274G>A rs112007936 0.00199
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00199
NM_020779.4(WDR35):c.*3225G>A rs189820516 0.00198
NM_020779.4(WDR35):c.*3235C>A rs186978842 0.00198
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_153704.6(TMEM67):c.*1653G>A rs544858713 0.00196
NM_015272.5(RPGRIP1L):c.*1461A>T rs184079732 0.00195
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) rs140660854 0.00194
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_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_017950.4(CCDC40):c.*383G>A rs114892048 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_001377.3(DYNC2H1):c.*388A>T rs113577674 0.00192
NM_001384732.1(CPLANE1):c.9093A>G (p.Ser3031=) rs141014620 0.00190
NM_012210.4(TRIM32):c.*1152A>G rs557939030 0.00190
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=) rs117995360 0.00189
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=) rs184804243 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.654C>T (p.Leu218=) rs138897437 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr) rs200775946 0.00187
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_001278293.3(ARL6):c.*495C>T rs188498639 0.00186
NM_001384732.1(CPLANE1):c.5738-6C>T rs148634159 0.00186
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu) rs143251588 0.00185
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845 0.00185
NM_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_012210.4(TRIM32):c.558G>C (p.Gln186His) rs117599771 0.00183
NM_020779.4(WDR35):c.*997T>C rs536197643 0.00183
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600 0.00180
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val) rs145973397 0.00178
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) rs139560004 0.00177
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) rs144748846 0.00176
NM_033028.5(BBS4):c.*737T>C rs572076143 0.00176
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282 0.00175
NM_001278293.3(ARL6):c.-137A>C rs192372191 0.00174
NM_001369.3(DNAH5):c.*1652C>T rs149589710 0.00173
NM_153717.3(EVC):c.*1243A>G rs111984543 0.00173
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622 0.00172
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_018718.3(CEP41):c.*1056A>C rs574982700 0.00170
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr) rs142372794 0.00168
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417 0.00168
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=) rs148005445 0.00167
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_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_001044385.3(TMEM237):c.*308T>G rs185380807 0.00163
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly) rs121908854 0.00163
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_018718.3(CEP41):c.*5068G>A rs148856430 0.00163
NM_020779.4(WDR35):c.*1582C>T rs757203175 0.00162
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307 0.00161
NM_018718.3(CEP41):c.*740C>T rs553917711 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_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_213607.3(CCDC103):c.627G>A (p.Glu209=) rs200474997 0.00161
NM_001369.3(DNAH5):c.1321-15T>C rs202081804 0.00160
NM_012210.4(TRIM32):c.*512A>T rs144172952 0.00160
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_018718.3(CEP41):c.*4594C>T rs151309255 0.00159
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_020779.4(WDR35):c.*1681A>G rs188310451 0.00158
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_001044385.3(TMEM237):c.*3855A>G rs187328136 0.00156
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815 0.00156
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 0.00156
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) rs61733577 0.00156
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398 0.00154
NM_001199397.3(NEK1):c.*156C>T rs886059224 0.00153
NM_001277115.2(DNAH11):c.3933A>G (p.Pro1311=) rs138071140 0.00153
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 0.00151
NM_001378454.1(ALMS1):c.*105A>G rs553541249 0.00150
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) rs201597047 0.00150
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=) rs138196132 0.00150
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) rs145726393 0.00150
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.*1404A>G rs149288894 0.00148
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_015910.7(WDPCP):c.985G>A (p.Val329Met) rs199959383 0.00147
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_020779.4(WDR35):c.*601A>G rs182037850 0.00146
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279 0.00145
NM_153717.3(EVC):c.*971C>G rs13121258 0.00145
NM_020779.4(WDR35):c.*2160T>C rs192966128 0.00144
NM_015272.5(RPGRIP1L):c.-9C>T rs779839225 0.00143
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
NM_001010892.3(RSPH4A):c.1662+15C>T rs183372450 0.00141
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551 0.00141
NM_001044385.3(TMEM237):c.*1382C>T rs187040024 0.00140
NM_001044385.3(TMEM237):c.*3728A>G rs555315551 0.00140
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_001128178.3(NPHP1):c.*250C>T rs150558683 0.00139
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_018718.3(CEP41):c.*2389G>A rs73152867 0.00138
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu) rs150248985 0.00138
NM_170784.3(MKKS):c.-159A>G rs566532177 0.00137
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) rs145506099 0.00136
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033 0.00135
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_198428.3(BBS9):c.*336A>G rs578208457 0.00135
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191 0.00134
NM_153717.3(EVC):c.*1288T>C rs1280696850 0.00134
NM_012472.6(DNAAF11):c.*179A>G rs549691657 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_153704.6(TMEM67):c.*853G>A rs191740525 0.00133
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys) rs111912673 0.00131
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047 0.00127
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=) rs142977481 0.00126
NM_031885.5(BBS2):c.*34A>G rs199627406 0.00125
NM_001010892.3(RSPH4A):c.*277A>G rs148830140 0.00124
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) rs149654950 0.00124
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357 0.00124
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser) rs146142715 0.00122
NM_001369.3(DNAH5):c.7753-9C>G rs377367981 0.00122
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293 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_001199397.3(NEK1):c.-289T>C rs776707093 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_153240.5(NPHP3):c.*1020T>C rs186828918 0.00120
NM_181426.2(CCDC39):c.2409T>C (p.Cys803=) rs201601768 0.00119
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812 0.00118
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981 0.00118
NM_178452.6(DNAAF1):c.1031-5A>T rs79772571 0.00118
NM_018718.3(CEP41):c.*4216C>T rs187549864 0.00117
NM_019892.6(INPP5E):c.1550-14C>T rs181576122 0.00117
NM_012472.6(DNAAF11):c.1343T>C (p.Ile448Thr) rs78620801 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_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly) rs200277460 0.00115
NM_153717.3(EVC):c.*2493A>G rs188345323 0.00114
NM_181426.2(CCDC39):c.*841C>T rs189097577 0.00114
NM_001044385.3(TMEM237):c.*564T>C rs141560423 0.00113
NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=) rs186970259 0.00113
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697 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_014714.4(IFT140):c.-4C>T rs140403660 0.00112
NM_015910.7(WDPCP):c.*446C>T rs566014787 0.00112
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001134831.2(AHI1):c.*1288T>C rs886061103 0.00111
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_001384732.1(CPLANE1):c.8374-15G>A rs74881219 0.00111
NM_031885.3(BBS2):c.-225C>T rs117744577 0.00111
NM_001023570.4(IQCB1):c.*218G>A rs552311575 0.00110
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=) rs185794149 0.00110
NM_001369.3(DNAH5):c.1251C>T (p.Thr417=) rs112911055 0.00109
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met) rs202189990 0.00109
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_024809.5(TCTN2):c.*258G>C rs540710300 0.00109
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857 0.00109
NM_001384732.1(CPLANE1):c.*642G>A rs543018376 0.00108
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_033028.5(BBS4):c.*157C>G rs149263274 0.00108
NM_198525.3(KIF7):c.2861C>T (p.Thr954Met) rs141463861 0.00108
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_001369.3(DNAH5):c.1644+12A>G rs201116549 0.00106
NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly) rs144427399 0.00106
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_001384732.1(CPLANE1):c.*714T>A rs191724705 0.00105
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326 0.00104
NM_015681.6(B9D1):c.568A>T (p.Thr190Ser) rs147684440 0.00104
NM_153240.5(NPHP3):c.*852C>A rs192360684 0.00104
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=) rs200445638 0.00103
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_020800.3(IFT80):c.*767G>C rs146492619 0.00102
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_018718.3(CEP41):c.*1579T>C rs554826749 0.00101
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) rs187332731 0.00101
NM_001378615.1(CC2D2A):c.-47G>A rs778112215 0.00100
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446 0.00100
NM_176824.3(BBS7):c.*353G>A rs570995801 0.00100
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_170784.3(MKKS):c.-384C>T rs568811798 0.00099
NM_020779.4(WDR35):c.*1006G>A rs80292673 0.00098
NM_020779.4(WDR35):c.*1668A>C rs191316348 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_024753.5(TTC21B):c.*460T>C rs537286454 0.00098
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp) rs114220185 0.00096
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664 0.00096
NM_018718.3(CEP41):c.*4244C>G rs544508687 0.00096
NM_024753.4(TTC21B):c.-91T>C rs772121352 0.00096
NM_024753.5(TTC21B):c.3874-14T>C rs200347449 0.00096
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00094
NM_012472.6(DNAAF11):c.*193A>G rs139222648 0.00094
NM_014714.4(IFT140):c.1824A>G (p.Thr608=) rs35433680 0.00094
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210 0.00094
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp) rs115536785 0.00093
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_024685.4(BBS10):c.*955T>C rs141408782 0.00093
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309 0.00093
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn) rs142345677 0.00093
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys) rs182808328 0.00092
NM_018719.5(CDCA7L):c.*1006A>G rs573090758 0.00092
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu) rs147470752 0.00092
NM_001369.3(DNAH5):c.*1613G>A rs763635720 0.00091
NM_024753.4(TTC21B):c.-107C>T rs545898884 0.00091
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_031427.4(DNAL1):c.*2923dup rs568527612 0.00091
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg) rs144081297 0.00090
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_153717.3(EVC):c.*492G>A rs530991301 0.00090
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_001384732.1(CPLANE1):c.-151C>T rs769827950 0.00088
NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala) rs80237479 0.00088
NM_018718.3(CEP41):c.*3541G>A rs376434190 0.00088
NM_020800.3(IFT80):c.*108A>G rs180992676 0.00088
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527 0.00088
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 0.00087
NM_001369.3(DNAH5):c.342C>T (p.Phe114=) rs145920072 0.00086
NM_001377.3(DYNC2H1):c.1134+8A>G rs138290301 0.00086
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) rs141392067 0.00086
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00086
NM_031885.5(BBS2):c.1380C>T (p.Phe460=) rs141046144 0.00086
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met) rs146392250 0.00085
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857 0.00085
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_015910.7(WDPCP):c.*327G>A rs565212301 0.00084
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_001377.3(DYNC2H1):c.*211A>G rs148091830 0.00083
NM_006642.5(SDCCAG8):c.-4G>A rs113193158 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_018718.3(CEP41):c.*680G>A rs146622910 0.00083
NM_033028.5(BBS4):c.*200C>T rs191015723 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_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_153717.3(EVC):c.*1976C>T rs56333422 0.00082
NM_001277115.2(DNAH11):c.11374A>G (p.Ile3792Val) rs201700629 0.00081
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_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser) rs147849568 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_001277115.2(DNAH11):c.13049+15C>T rs200860431 0.00080
NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=) rs147454485 0.00080
NM_018718.3(CEP41):c.*4908G>A rs552988501 0.00080
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703 0.00079
NM_001369.3(DNAH5):c.1090-14G>T rs150627172 0.00079
NM_014714.4(IFT140):c.1788T>C (p.Asp596=) rs148904634 0.00079
NM_015272.5(RPGRIP1L):c.*1510G>A rs140374059 0.00079
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) rs199765304 0.00079
NM_014714.4(IFT140):c.*403G>A rs143732634 0.00078
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_170784.3(MKKS):c.-618C>T rs146473397 0.00078
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) rs375307767 0.00077
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00077
NM_001134831.2(AHI1):c.*1146T>A rs557989991 0.00076
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451 0.00076
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys) rs150556877 0.00076
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_018718.3(CEP41):c.*3741A>T rs532169706 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_001044385.3(TMEM237):c.*258del rs558670305 0.00075
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_033028.5(BBS4):c.*691G>A rs192812230 0.00074
NM_213607.2(CCDC103):c.-141C>T rs546976256 0.00074
NM_213607.3(CCDC103):c.-131C>A rs558940643 0.00074
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892 0.00073
NM_001199397.3(NEK1):c.*658A>G rs185294844 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_033028.5(BBS4):c.-14T>A rs146238636 0.00073
NM_006642.5(SDCCAG8):c.-130C>A rs547776191 0.00072
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) rs188817098 0.00071
NM_019892.6(INPP5E):c.*630G>A rs539039743 0.00071
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_153717.3(EVC):c.*994C>T rs547970729 0.00071
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu) rs200454446 0.00070
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val) rs149956015 0.00070
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=) rs138157585 0.00070
NM_001369.3(DNAH5):c.8224+15G>A rs148099176 0.00070
NM_015102.5(NPHP4):c.-90A>T rs527962872 0.00070
NM_020800.2(IFT80):c.-183C>T rs545378240 0.00070
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349 0.00070
NM_198428.3(BBS9):c.-397G>A rs561901329 0.00070
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met) rs202148932 0.00069
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) rs191266255 0.00069
NM_001277115.2(DNAH11):c.7266+5G>A rs149364992 0.00069
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=) rs200349268 0.00069
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310 0.00069
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_152618.3(BBS12):c.*185T>C rs545226235 0.00069
NM_152618.3(BBS12):c.1207G>A (p.Val403Met) rs78000298 0.00069
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138 0.00068
NM_012210.4(TRIM32):c.*84A>C rs571526516 0.00068
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00068
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896 0.00068
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu) rs112700048 0.00068
NM_020779.4(WDR35):c.*2620G>A rs545271105 0.00068
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100 0.00068
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_001199397.3(NEK1):c.-52T>C rs771331236 0.00067
NM_001199397.3(NEK1):c.277A>G (p.Asn93Asp) rs201350526 0.00067
NM_001278293.3(ARL6):c.*470G>A rs184213166 0.00067
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500 0.00066
NM_015102.5(NPHP4):c.4141-11C>T rs139203183 0.00066
NM_017950.4(CCDC40):c.*220C>T rs538221665 0.00066
NM_020779.4(WDR35):c.*2797G>A rs528776835 0.00066
NM_023036.6(DNAI2):c.1572G>A (p.Lys524=) rs2279122 0.00066
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054 0.00066
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472 0.00066
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068 0.00066
NM_012210.4(TRIM32):c.*229C>T rs770788386 0.00065
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766 0.00065
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000 0.00064
NM_001394148.2(LOC128706665):c.132T>G (p.Ile44Met) rs554863155 0.00064
NM_001394148.2(LOC128706665):c.133C>A (p.Pro45Thr) rs536112369 0.00064
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059 0.00064
NM_015681.6(B9D1):c.*58G>A rs534428777 0.00064
NM_020779.4(WDR35):c.*2619C>T rs565144558 0.00064
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_198525.3(KIF7):c.*238C>T rs555507825 0.00064
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 0.00063
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_016464.5(TMEM138):c.*228C>G rs536120944 0.00063
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_153240.5(NPHP3):c.*1176G>A rs183658380 0.00063
NM_153240.5(NPHP3):c.*926C>T rs570076170 0.00063
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys) rs61737748 0.00062
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970 0.00062
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035 0.00062
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln) rs151317163 0.00062
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg) rs146362213 0.00061
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=) rs199628481 0.00061
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_016464.4(TMEM138):c.-255C>T rs112115349 0.00061
NM_018139.3(DNAAF2):c.423C>T (p.Val141=) rs373251065 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_153240.5(NPHP3):c.*141T>C rs538987591 0.00061
NM_153717.3(EVC):c.*263T>C rs575488876 0.00061
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_153240.5(NPHP3):c.*519C>T rs3891704 0.00060
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608 0.00060
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_001377.3(DYNC2H1):c.12039+15A>G rs184350782 0.00059
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_018718.3(CEP41):c.*1646G>A rs187513408 0.00059
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_144596.4(TTC8):c.*83A>G rs147325843 0.00059
NM_144596.4(TTC8):c.330-15T>A rs187484893 0.00059
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611 0.00058
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=) rs149631064 0.00058
NM_015102.4(NPHP4):c.-235G>A rs765435500 0.00058
NM_024753.5(TTC21B):c.*847A>C rs138656848 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_198525.3(KIF7):c.2077G>T (p.Val693Phe) rs550326630 0.00058
NM_001369.3(DNAH5):c.12500-11G>A rs200056509 0.00057
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_001378615.1(CC2D2A):c.*45G>C rs372449768 0.00057
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr) rs145078518 0.00057
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475 0.00057
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp) rs78211353 0.00057
NM_024649.5(BBS1):c.*219A>G rs74451472 0.00057
NM_181426.2(CCDC39):c.900T>A (p.His300Gln) rs201684898 0.00057
NM_001369.3(DNAH5):c.5643G>A (p.Thr1881=) rs150429110 0.00056
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_018139.3(DNAAF2):c.263G>A (p.Cys88Tyr) rs549457480 0.00056
NM_020779.4(WDR35):c.*487C>T rs116951767 0.00056
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His) rs139327086 0.00056
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_153240.4(NPHP3):c.-70C>T rs886058006 0.00056
NM_153704.6(TMEM67):c.*690T>A rs535033320 0.00056
NM_198428.3(BBS9):c.*589G>A rs548920550 0.00056
NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=) rs367841359 0.00055
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_153717.3(EVC):c.*1592C>T rs193184679 0.00055
NM_017777.4(MKS1):c.1498A>G (p.Met500Val) rs144635826 0.00054
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=) rs72849355 0.00054
NM_019892.6(INPP5E):c.*747T>C rs191248562 0.00054
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) rs146890274 0.00054
NM_178452.6(DNAAF1):c.1300G>A (p.Gly434Arg) rs117114021 0.00054
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_001384732.1(CPLANE1):c.*18G>T rs200332492 0.00053
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys) rs116938457 0.00053
NM_025132.4(WDR19):c.3918-6A>C rs199546190 0.00053
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00053
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=) rs144893234 0.00052
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met) rs144983881 0.00052
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816 0.00052
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile) rs143020939 0.00052
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 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_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly) rs143210369 0.00052
NM_177976.3(ARL6):c.-375C>T rs536935620 0.00052
NM_001044385.3(TMEM237):c.*1655G>A rs1020619947 0.00051
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile) rs118057448 0.00051
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332 0.00051
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008 0.00051
NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=) rs371259464 0.00051
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730 0.00051
NM_012210.4(TRIM32):c.276C>T (p.Ser92=) rs140589523 0.00051
NM_014714.4(IFT140):c.*153C>T rs760987640 0.00051
NM_018718.3(CEP41):c.*2481T>A rs528289176 0.00051
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_020800.3(IFT80):c.*417A>G rs778131263 0.00051
NM_020800.3(IFT80):c.60G>A (p.Val20=) rs201088893 0.00051
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 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.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_015910.7(WDPCP):c.-113C>A rs192963932 0.00050
NM_020800.3(IFT80):c.*887T>C rs537207877 0.00050
NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp) rs150710001 0.00050
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) rs145926679 0.00050
NM_033028.5(BBS4):c.*36G>A rs376830638 0.00050
NM_153240.5(NPHP3):c.*437C>T rs539230132 0.00050
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr) rs201519478 0.00050
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp) rs188615176 0.00049
NM_012210.4(TRIM32):c.-109T>C rs886063378 0.00049
NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys) rs144077436 0.00049
NM_153717.3(EVC):c.*709T>C rs183727253 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_001369.3(DNAH5):c.1882T>G (p.Leu628Val) rs143745645 0.00048
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579 0.00048
NM_014714.4(IFT140):c.1593G>T (p.Gly531=) rs143491016 0.00048
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151 0.00048
NM_017950.4(CCDC40):c.*202T>C rs539904864 0.00048
NM_018718.3(CEP41):c.*2896G>A rs147207980 0.00048
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612 0.00048
NM_153717.3(EVC):c.*3161A>C rs550678702 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_018718.3(CEP41):c.*1534T>C rs149912245 0.00047
NM_018718.3(CEP41):c.*1567A>C rs139085191 0.00047
NM_018718.3(CEP41):c.*1981G>A rs538682192 0.00047
NM_024753.5(TTC21B):c.*516C>T rs185578095 0.00047
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455 0.00046
NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala) rs141807661 0.00046
NM_001369.3(DNAH5):c.*445G>A rs139979856 0.00046
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=) rs151274810 0.00046
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=) rs775185371 0.00046
NM_001369.3(DNAH5):c.8960A>T (p.Asn2987Ile) rs149489069 0.00046
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388 0.00046
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920 0.00046
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 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_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_153240.5(NPHP3):c.*1121A>G rs576904017 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_001023570.4(IQCB1):c.877-11C>T rs192296154 0.00045
NM_001044385.3(TMEM237):c.*2960C>A rs188637429 0.00045
NM_001369.3(DNAH5):c.*427G>A rs564203224 0.00045
NM_001384732.1(CPLANE1):c.7920C>T (p.Ser2640=) rs141486731 0.00045
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) rs140753861 0.00045
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804 0.00045
NM_024685.4(BBS10):c.*106C>T rs886049847 0.00045
NM_025114.3(CEP290):c.-235T>G rs569632834 0.00045
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn) rs144128250 0.00044
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852 0.00044
NM_001384732.1(CPLANE1):c.8580C>T (p.Ala2860=) rs145347771 0.00044
NM_018139.3(DNAAF2):c.1417C>T (p.Arg473Trp) rs200327783 0.00044
NM_153717.3(EVC):c.*1069A>G rs13147953 0.00044
NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=) rs141074491 0.00044
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile) rs374351807 0.00043
NM_001277115.2(DNAH11):c.569A>T (p.Tyr190Phe) rs201793112 0.00043
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val) rs182506343 0.00043
NM_001377.3(DYNC2H1):c.1350C>T (p.Asp450=) rs190106816 0.00043
NM_001384732.1(CPLANE1):c.4954C>T (p.Leu1652=) rs141109938 0.00043
NM_014714.4(IFT140):c.2067G>A (p.Ala689=) rs143537808 0.00043
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu) rs145814071 0.00043
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=) rs146464282 0.00043
NM_023036.6(DNAI2):c.1380G>T (p.Val460=) rs148947094 0.00043
NM_025132.4(WDR19):c.*106T>G rs147600266 0.00043
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly) rs199789835 0.00042
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335 0.00042
NM_001378615.1(CC2D2A):c.*1T>A rs199945435 0.00042
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=) rs201122718 0.00042
NM_012472.6(DNAAF11):c.*73A>T rs115309048 0.00042
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu) rs186014615 0.00042
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg) rs200170138 0.00042
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046 0.00042
NM_018718.3(CEP41):c.*3097T>C rs929238589 0.00042
NM_024685.4(BBS10):c.*947G>T rs533206499 0.00042
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_001044385.3(TMEM237):c.*2141C>T rs147652455 0.00041
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272 0.00041
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_001369.3(DNAH5):c.2578-7_2578-6del rs1491199769 0.00041
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser) rs199897162 0.00041
NM_001384732.1(CPLANE1):c.1116G>A (p.Thr372=) rs551066377 0.00041
NM_001394148.2(LOC128706665):c.71A>G (p.His24Arg) rs145467994 0.00041
NM_012144.4(DNAI1):c.-41T>C rs200245894 0.00041
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val) rs190522911 0.00041
NM_017777.4(MKS1):c.*134C>T rs34224064 0.00041
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_153704.6(TMEM67):c.*941T>C rs112317911 0.00041
NM_153717.3(EVC):c.*2310G>A rs539844915 0.00041
NM_176824.3(BBS7):c.*1526C>T rs546122158 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_198428.3(BBS9):c.*29A>G rs373446119 0.00041
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) rs199959360 0.00040
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00040
NM_012210.4(TRIM32):c.-124G>A rs752864284 0.00040
NM_014714.4(IFT140):c.*235C>A rs184405274 0.00040
NM_018718.3(CEP41):c.*1385T>G rs781845516 0.00040
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786 0.00040
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg) rs141226759 0.00039
NM_001044385.3(TMEM237):c.*3517A>G rs563749617 0.00039
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 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_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_001369.3(DNAH5):c.4525G>A (p.Val1509Met) rs140345677 0.00039
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570 0.00039
NM_001384732.1(CPLANE1):c.6860G>A (p.Ser2287Asn) rs147451628 0.00039
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile) rs201877419 0.00039
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732 0.00039
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681 0.00039
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907 0.00039
NM_025132.4(WDR19):c.*152G>A rs533059483 0.00039
NM_153717.3(EVC):c.*858G>A rs544337142 0.00039
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=) rs200710438 0.00038
NM_001277115.2(DNAH11):c.727A>G (p.Ile243Val) rs189000268 0.00038
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=) rs201953670 0.00038
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211 0.00038
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568 0.00038
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766 0.00038
NM_015102.5(NPHP4):c.3045-5C>T rs2297790 0.00038
NM_017950.4(CCDC40):c.*17C>T rs202179507 0.00038
NM_024809.5(TCTN2):c.*477G>A rs147565143 0.00038
NM_153717.3(EVC):c.*198G>A rs181401771 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221 0.00037
NM_001369.3(DNAH5):c.2067T>C (p.His689=) rs140630779 0.00037
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=) rs143899594 0.00037
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009 0.00037
NM_153717.3(EVC):c.*1256C>T rs532180814 0.00037
NM_153717.3(EVC):c.*1599C>T rs527297174 0.00037
NM_153717.3(EVC):c.2782+15C>G rs373862588 0.00037
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00037
NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser) rs201618995 0.00036
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995 0.00036
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly) rs116198390 0.00036
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445 0.00036
NM_006642.5(SDCCAG8):c.798T>C (p.His266=) rs74586093 0.00036
NM_012472.6(DNAAF11):c.1096A>G (p.Lys366Glu) rs201309011 0.00036
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) rs139131485 0.00036
NM_017777.4(MKS1):c.515+12C>T rs372527189 0.00036
NM_017950.4(CCDC40):c.*633C>G rs117359231 0.00036
NM_020779.4(WDR35):c.*763T>C rs560228088 0.00036
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=) rs373515859 0.00036
NM_001199397.3(NEK1):c.*107A>G rs767808092 0.00035
NM_001277115.2(DNAH11):c.6274-5T>C rs74365849 0.00035
NM_012472.6(DNAAF11):c.*5T>G rs144068846 0.00035
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717 0.00035
NM_016464.5(TMEM138):c.216C>T (p.Asn72=) rs145939072 0.00035
NM_024649.5(BBS1):c.*1349T>C rs752758324 0.00035
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln) rs138993311 0.00035
NM_001023570.4(IQCB1):c.-147del rs886057829 0.00034
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00034
NM_001277115.2(DNAH11):c.1749T>A (p.Val583=) rs368294823 0.00034
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631 0.00034
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val) rs199503535 0.00034
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00034
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) rs140820295 0.00034
NM_014714.4(IFT140):c.369+12C>T rs192986766 0.00034
NM_015102.5(NPHP4):c.2485+9C>A rs200952409 0.00034
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu) rs201779243 0.00034
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553 0.00034
NM_016464.4(TMEM138):c.-294G>A rs775592054 0.00034
NM_017950.4(CCDC40):c.1248C>T (p.Arg416=) rs375199947 0.00034
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951 0.00034
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_031885.5(BBS2):c.1797+12C>T rs370960689 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_153240.5(NPHP3):c.2884-4C>G rs185913426 0.00034
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_181426.2(CCDC39):c.*147G>A rs773632317 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_213607.3(CCDC103):c.104G>A (p.Arg35Gln) rs587783065 0.00034
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys) rs116995413 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_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 0.00033
NM_018718.3(CEP41):c.*4599A>G rs753024852 0.00033
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_153717.3(EVC):c.*2125T>G rs139771274 0.00033
NM_001023570.4(IQCB1):c.-190C>T rs145282757 0.00032
NM_001044385.3(TMEM237):c.*1008A>G rs777244164 0.00032
NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln) rs144949095 0.00032
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) rs146203427 0.00032
NM_012210.4(TRIM32):c.*1411_*1414dup rs758130716 0.00032
NM_012210.4(TRIM32):c.*177C>T rs149956877 0.00032
NM_014714.4(IFT140):c.1360-14G>A rs369246649 0.00032
NM_015272.5(RPGRIP1L):c.*1033G>A rs145688122 0.00032
NM_016464.5(TMEM138):c.-157C>G rs779029696 0.00032
NM_024685.4(BBS10):c.*529C>T rs571517922 0.00032
NM_024753.5(TTC21B):c.*473C>G rs763021259 0.00032
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693 0.00031
NM_001277115.2(DNAH11):c.10692-7C>T rs368833367 0.00031
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg) rs189432084 0.00031
NM_001369.3(DNAH5):c.11570+8T>C rs369789559 0.00031
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202 0.00031
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=) rs147865593 0.00031
NM_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys) rs138968139 0.00031
NM_001384732.1(CPLANE1):c.*833T>C rs553022771 0.00031
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024 0.00031
NM_014714.4(IFT140):c.2586C>T (p.Ala862=) rs148557575 0.00031
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754 0.00031
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser) rs201739201 0.00031
NM_019892.6(INPP5E):c.*811G>A rs778109117 0.00031
NM_020779.4(WDR35):c.*1253C>G rs368665906 0.00031
NM_020779.4(WDR35):c.2965-4G>T rs199696980 0.00031
NM_020800.3(IFT80):c.*677A>G rs141039735 0.00031
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469 0.00031
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val) rs144335584 0.00031
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811 0.00031
NM_198525.3(KIF7):c.2049G>A (p.Gly683=) rs141856439 0.00031
NM_198525.3(KIF7):c.3665-5G>A rs79532879 0.00031
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790 0.00030
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu) rs184910011 0.00030
NM_006642.5(SDCCAG8):c.-121C>T rs768318766 0.00030
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_018718.3(CEP41):c.*805A>G rs145808545 0.00030
NM_020779.4(WDR35):c.*795C>T rs190700326 0.00030
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_153717.3(EVC):c.-139G>A rs779841092 0.00030
NM_198428.3(BBS9):c.*444G>A rs75625812 0.00030
NM_001134831.2(AHI1):c.*793A>G rs191324834 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.5152A>G (p.Ile1718Val) rs137855415 0.00029
NM_001277115.2(DNAH11):c.794G>A (p.Arg265His) rs192989152 0.00029
NM_001369.3(DNAH5):c.1126G>T (p.Ala376Ser) rs201469505 0.00029
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala) rs149187750 0.00029
NM_001369.3(DNAH5):c.975+6C>T rs151000177 0.00029
NM_001377.3(DYNC2H1):c.5335-11T>G rs181963253 0.00029
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) rs182369056 0.00029
NM_001384732.1(CPLANE1):c.7596A>G (p.Leu2532=) rs201502145 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286 0.00029
NM_023036.6(DNAI2):c.828G>A (p.Thr276=) rs149918986 0.00029
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_025132.4(WDR19):c.1566C>T (p.Pro522=) rs200692490 0.00029
NM_033028.5(BBS4):c.*498T>C rs187276976 0.00029
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val) rs150706579 0.00029
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227 0.00029
NM_001199397.3(NEK1):c.*1222T>G rs543801862 0.00028
NM_001256715.2(DNAAF3):c.*28A>C rs201512228 0.00028
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=) rs200978576 0.00028
NM_001394148.2(LOC128706665):c.*130A>G rs3748466 0.00028
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943 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_024753.5(TTC21B):c.1563C>T (p.His521=) rs138294801 0.00028
NM_147127.5(EVC2):c.1886+11A>G rs61218140 0.00028
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met) rs143430766 0.00027
NM_001044385.3(TMEM237):c.*987C>T rs568084746 0.00027
NM_001277115.2(DNAH11):c.13309C>T (p.Arg4437Cys) rs200466467 0.00027
NM_001278293.3(ARL6):c.-207G>A rs189005414 0.00027
NM_001278293.3(ARL6):c.-71C>G rs777066573 0.00027
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met) rs369476930 0.00027
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646 0.00027
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00027
NM_020779.4(WDR35):c.*1413C>T rs567295822 0.00027
NM_033028.5(BBS4):c.*65G>A rs576340233 0.00027
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) rs201097154 0.00027
NM_198525.3(KIF7):c.*92C>T rs549330096 0.00027
NM_000549.5(TSHB):c.256G>A (p.Gly86Arg) rs190110651 0.00026
NM_001023570.3(IQCB1):c.-215C>T rs541891117 0.00026
NM_001023570.4(IQCB1):c.*148T>C rs190963373 0.00026
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617 0.00026
NM_001199397.3(NEK1):c.3583+8A>C rs192372022 0.00026
NM_001277115.2(DNAH11):c.6621T>A (p.Ala2207=) rs574427839 0.00026
NM_001369.3(DNAH5):c.2431+5G>A rs369244905 0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941 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_015272.5(RPGRIP1L):c.*851C>A rs138437010 0.00026
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=) rs185980830 0.00026
NM_018718.3(CEP41):c.*392G>A rs528501184 0.00026
NM_020779.4(WDR35):c.*807T>C rs555257043 0.00026
NM_025114.3(CEP290):c.-295T>C rs374616539 0.00026
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350 0.00026
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161 0.00026
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951 0.00026
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230 0.00026
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=) rs148990251 0.00026
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp) rs147191956 0.00026
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187 0.00025
NM_014714.4(IFT140):c.*2G>A rs144879630 0.00025
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser) rs188020560 0.00025
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713 0.00025
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772 0.00025
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly) rs139435501 0.00025
NM_018718.3(CEP41):c.*4973C>T rs760160179 0.00025
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533 0.00025
NM_031427.4(DNAL1):c.*6161_*6162insCA rs886050720 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_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868 0.00025
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=) rs146569517 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.3853-5C>G rs367628980 0.00024
NM_001277115.2(DNAH11):c.4945-12T>C rs141572016 0.00024
NM_001277115.2(DNAH11):c.661A>T (p.Met221Leu) rs147525173 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_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln) rs775615484 0.00024
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) rs199541807 0.00024
NM_001377.3(DYNC2H1):c.8311+10A>G rs376842066 0.00024
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys) rs374554530 0.00024
NM_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=) rs141425550 0.00024
NM_012472.6(DNAAF11):c.*63C>A rs559073925 0.00024
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu) rs372414566 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_017950.4(CCDC40):c.384A>G (p.Ala128=) rs375586063 0.00024
NM_018718.3(CEP41):c.*2226G>A rs115431091 0.00024
NM_024685.4(BBS10):c.*1197A>G rs1021806409 0.00024
NM_024685.4(BBS10):c.*773T>C rs549588883 0.00024
NM_025132.4(WDR19):c.3484-15T>C rs376870184 0.00024
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 0.00024
NM_144596.4(TTC8):c.*92C>T rs148799039 0.00024
NM_152618.3(BBS12):c.-152C>G rs886059056 0.00024
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_198428.3(BBS9):c.2211G>A (p.Leu737=) rs144672900 0.00024
NM_198525.3(KIF7):c.2613G>A (p.Glu871=) rs370595622 0.00024
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_001277115.2(DNAH11):c.12601C>T (p.Pro4201Ser) rs200166341 0.00023
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His) rs377388499 0.00023
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=) rs138441172 0.00023
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782 0.00023
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) rs199919586 0.00023
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=) rs151151838 0.00023
NM_015681.6(B9D1):c.*47C>T rs200124070 0.00023
NM_018139.3(DNAAF2):c.700C>T (p.Pro234Ser) rs776126134 0.00023
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu) rs146412602 0.00023
NM_001256715.2(DNAAF3):c.1049-1G>A rs199590885 0.00022
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp) rs201944089 0.00022
NM_001369.3(DNAH5):c.11761+5A>G rs780205801 0.00022
NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=) rs201484389 0.00022
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284 0.00022
NM_015102.4(NPHP4):c.-236C>T rs185912310 0.00022
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441 0.00022
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr) rs201299216 0.00022
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr) rs185157579 0.00022
NM_018718.3(CEP41):c.*1341A>C rs782742227 0.00022
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519 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_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789 0.00022
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_178452.6(DNAAF1):c.1033G>C (p.Glu345Gln) rs538389058 0.00022
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=) rs200487337 0.00022
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391 0.00022
NM_198525.3(KIF7):c.*36C>T rs370152166 0.00022
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp) rs142598777 0.00022
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) rs180881714 0.00021
NM_001258400.2(FAM187A):c.-274T>C rs557164647 0.00021
NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys) rs371929703 0.00021
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His) rs369849556 0.00021
NM_001277115.2(DNAH11):c.2499C>T (p.Asn833=) rs201231307 0.00021
NM_001277115.2(DNAH11):c.4306C>T (p.Arg1436Trp) rs183489539 0.00021
NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe) rs72657327 0.00021
NM_001277115.2(DNAH11):c.8572G>A (p.Gly2858Ser) rs201501951 0.00021
NM_001277115.2(DNAH11):c.9925-7T>C rs146815254 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg) rs148666497 0.00021
NM_001377.3(DYNC2H1):c.*293A>G rs540596724 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_001377.3(DYNC2H1):c.5508A>G (p.Lys1836=) rs201305322 0.00021
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_001384732.1(CPLANE1):c.4074C>T (p.Ile1358=) rs145018253 0.00021
NM_014714.4(IFT140):c.3271-4G>A rs200815296 0.00021
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623 0.00021
NM_015910.7(WDPCP):c.75+13C>T rs182759221 0.00021
NM_016464.5(TMEM138):c.-169C>T rs553390222 0.00021
NM_017777.4(MKS1):c.*603T>G rs578200260 0.00021
NM_017777.4(MKS1):c.-15C>G rs541448010 0.00021
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp) rs187993089 0.00021
NM_020779.4(WDR35):c.*1370G>A rs1039776865 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_024753.4(TTC21B):c.-94C>T rs563836188 0.00021
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978 0.00021
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) rs376411291 0.00021
NM_147127.5(EVC2):c.2668G>A (p.Val890Met) rs371698182 0.00021
NM_153717.3(EVC):c.*302G>A rs560005309 0.00021
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys) rs149626732 0.00021
NM_181426.2(CCDC39):c.68A>C (p.Glu23Ala) rs200225521 0.00021
NM_198525.3(KIF7):c.1090C>T (p.Pro364Ser) rs764965490 0.00021
NM_198525.3(KIF7):c.612C>T (p.His204=) rs398124613 0.00021
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met) rs200609513 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met) rs137935543 0.00020
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711 0.00020
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp) rs377219039 0.00020
NM_019892.6(INPP5E):c.*235A>G rs376604726 0.00020
NM_024649.5(BBS1):c.*522C>T rs886048528 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_033028.5(BBS4):c.*783A>G rs775532255 0.00020
NM_152732.5(RSPH9):c.421G>A (p.Val141Met) rs2295947 0.00020
NM_178452.6(DNAAF1):c.1838C>A (p.Thr613Asn) rs145075337 0.00020
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val) rs373723058 0.00019
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001199397.3(NEK1):c.*996G>A rs868452742 0.00019
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=) rs201050208 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.5911G>A (p.Gly1971Arg) rs764973765 0.00019
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser) rs141196027 0.00019
NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu) rs191971137 0.00019
NM_001377.3(DYNC2H1):c.1384C>T (p.Arg462Trp) rs768459821 0.00019
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp) rs772439717 0.00019
NM_001377.3(DYNC2H1):c.366+10G>A rs200257097 0.00019
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) rs201863754 0.00019
NM_001378454.1(ALMS1):c.*209A>G rs573978557 0.00019
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val) rs139496915 0.00019
NM_001384732.1(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520 0.00019
NM_001384732.1(CPLANE1):c.82-14G>A rs180804052 0.00019
NM_012210.4(TRIM32):c.*1350A>C rs1055184514 0.00019
NM_012472.6(DNAAF11):c.178+13A>G rs200580615 0.00019
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866 0.00019
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_015102.5(NPHP4):c.1120-13G>T rs192450719 0.00019
NM_015102.5(NPHP4):c.2230G>A (p.Val744Met) rs199712626 0.00019
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His) rs137932153 0.00019
NM_018139.3(DNAAF2):c.332G>C (p.Arg111Pro) rs549781788 0.00019
NM_018718.3(CEP41):c.*2781A>G rs782043938 0.00019
NM_018718.3(CEP41):c.*4391G>A rs782450438 0.00019
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) rs140196566 0.00019
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=) rs201925425 0.00019
NM_024753.5(TTC21B):c.-24C>T rs554218980 0.00019
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_025114.4(CEP290):c.-147A>T rs753567406 0.00019
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_031885.3(BBS2):c.-190G>C rs555974619 0.00019
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser) rs199898889 0.00019
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly) rs148843256 0.00019
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223 0.00019
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_153717.3(EVC):c.*3170T>C rs886059519 0.00019
NM_153717.3(EVC):c.-163G>A rs989585218 0.00019
NM_198525.3(KIF7):c.2426G>A (p.Arg809Gln) rs758378987 0.00019
NM_001010892.3(RSPH4A):c.*469T>C rs191910575 0.00018
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu) rs138181219 0.00018
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr) rs189569144 0.00018
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=) rs201592689 0.00018
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) rs143251480 0.00018
NM_001369.3(DNAH5):c.1752T>C (p.Gly584=) rs201028861 0.00018
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129 0.00018
NM_001384732.1(CPLANE1):c.3812-5T>G rs375780513 0.00018
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile) rs200292678 0.00018
NM_018719.5(CDCA7L):c.*805G>A rs192515848 0.00018
NM_024753.5(TTC21B):c.-18C>T rs187707893 0.00018
NM_031427.4(DNAL1):c.*5630del rs746876867 0.00018
NM_176824.3(BBS7):c.*1324G>A rs181687808 0.00018
NM_181426.2(CCDC39):c.*842A>G rs187269837 0.00018
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001199397.3(NEK1):c.-504T>C rs550632789 0.00017
NM_001277115.2(DNAH11):c.13162+12C>T rs191638909 0.00017
NM_001377.3(DYNC2H1):c.12457-13T>C rs537890566 0.00017
NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn) rs201825699 0.00017
NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser) rs183021118 0.00017
NM_012144.4(DNAI1):c.1523T>C (p.Ile508Thr) rs148238282 0.00017
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272 0.00017
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His) rs375819124 0.00017
NM_018719.5(CDCA7L):c.*912A>G rs547875413 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_153704.6(TMEM67):c.*279T>C rs752060945 0.00017
NM_153717.3(EVC):c.*1573T>A rs958649706 0.00017
NM_170784.3(MKKS):c.*112C>T rs551220022 0.00017
NM_181426.2(CCDC39):c.2266-5T>C rs200409307 0.00017
NM_181426.2(CCDC39):c.547T>C (p.Leu183=) rs375301243 0.00017
NM_198525.3(KIF7):c.1324G>T (p.Asp442Tyr) rs747307729 0.00017
NM_001044385.3(TMEM237):c.*3123T>A rs866645983 0.00016
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00016
NM_001082538.2(TCTN1):c.-140A>G rs886048956 0.00016
NM_001134831.2(AHI1):c.-214C>T rs183265971 0.00016
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_001199397.3(NEK1):c.*494A>G rs532868932 0.00016
NM_001277115.2(DNAH11):c.12407G>A (p.Arg4136His) rs372603233 0.00016
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=) rs72658836 0.00016
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn) rs201121146 0.00016
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu) rs117803903 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_001377.3(DYNC2H1):c.9568-13C>G rs189730787 0.00016
NM_001384732.1(CPLANE1):c.1096C>T (p.Pro366Ser) rs376489487 0.00016
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile) rs202103224 0.00016
NM_012472.6(DNAAF11):c.1109C>G (p.Thr370Arg) rs148424037 0.00016
NM_014714.4(IFT140):c.-317T>A rs866146909 0.00016
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=) rs199875603 0.00016
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=) rs369566680 0.00016
NM_015102.5(NPHP4):c.467A>G (p.His156Arg) rs199897869 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015910.7(WDPCP):c.-109G>C rs886056226 0.00016
NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu) rs950609840 0.00016
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile) rs200701665 0.00016
NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp) rs200551690 0.00016
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=) rs202075842 0.00016
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn) rs201815496 0.00016
NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys) rs758247990 0.00016
NM_018139.3(DNAAF2):c.1687G>T (p.Ala563Ser) rs138511448 0.00016
NM_018718.3(CEP41):c.*2786A>C rs782016580 0.00016
NM_018718.3(CEP41):c.*705G>A rs782543502 0.00016
NM_019892.6(INPP5E):c.-347G>A rs886063716 0.00016
NM_020779.4(WDR35):c.*1062G>A rs778834686 0.00016
NM_020800.3(IFT80):c.634T>C (p.Tyr212His) rs756009771 0.00016
NM_020800.3(IFT80):c.912G>A (p.Glu304=) rs199575501 0.00016
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) rs142887208 0.00016
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val) rs756913474 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536 0.00016
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603 0.00016
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640 0.00016
NM_153717.3(EVC):c.*2808C>T rs558094887 0.00016
NM_170784.3(MKKS):c.-477G>T rs886056501 0.00016
NM_176824.3(BBS7):c.*513C>T rs577071672 0.00016
NM_176824.3(BBS7):c.*709G>C rs886059050 0.00016
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193 0.00016
NM_178452.6(DNAAF1):c.1528+11C>T rs375586650 0.00016
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys) rs199526690 0.00016
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420 0.00016
NM_198525.3(KIF7):c.208G>A (p.Val70Met) rs761934745 0.00016
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118 0.00015
NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu) rs201187909 0.00015
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly) rs369869567 0.00015
NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys) rs201494403 0.00015
NM_001369.3(DNAH5):c.1335C>T (p.Cys445=) rs192739957 0.00015
NM_001369.3(DNAH5):c.4587G>A (p.Glu1529=) rs569428035 0.00015
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494 0.00015
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val) rs370951527 0.00015
NM_033028.5(BBS4):c.1215C>G (p.Leu405=) rs3759869 0.00015
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075 0.00015
NM_153717.3(EVC):c.*907C>T rs71599839 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr) rs756368261 0.00015
NM_001009894.3(RLIG1):c.*594T>C rs376016171 0.00014
NM_001010892.3(RSPH4A):c.1286A>G (p.Tyr429Cys) rs140079844 0.00014
NM_001044385.3(TMEM237):c.*714_*715del rs373844800 0.00014
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp) rs572300029 0.00014
NM_001134831.2(AHI1):c.189+12T>C rs199617785 0.00014
NM_001173990.2(TMEM216):c.-86G>A rs188478638 0.00014
NM_001277115.2(DNAH11):c.2463C>T (p.Ser821=) rs530406993 0.00014
NM_001277115.2(DNAH11):c.3425+5C>G rs776140118 0.00014
NM_001369.3(DNAH5):c.10194C>T (p.Arg3398=) rs371663826 0.00014
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys) rs144053917 0.00014
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp) rs201841311 0.00014
NM_001369.3(DNAH5):c.4596+5A>C rs182677317 0.00014
NM_001369.3(DNAH5):c.4797-7A>G rs374917069 0.00014
NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=) rs368456533 0.00014
NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu) rs146215039 0.00014
NM_001377.3(DYNC2H1):c.10261A>G (p.Lys3421Glu) rs372204188 0.00014
NM_001377.3(DYNC2H1):c.3128G>A (p.Arg1043His) rs372627366 0.00014
NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=) rs371948128 0.00014
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_001384732.1(CPLANE1):c.7298T>C (p.Leu2433Pro) rs372655878 0.00014
NM_012144.4(DNAI1):c.-145C>T rs886063880 0.00014
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys) rs146277966 0.00014
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu) rs372565083 0.00014
NM_015102.5(NPHP4):c.2490C>T (p.His830=) rs549982601 0.00014
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) rs527701970 0.00014
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421 0.00014
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu) rs141011629 0.00014
NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr) rs200378703 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val) rs200291432 0.00014
NM_018718.3(CEP41):c.*1328T>A rs782132652 0.00014
NM_018718.3(CEP41):c.*4714T>C rs782085608 0.00014
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) rs201365447 0.00014
NM_020800.3(IFT80):c.807T>C (p.Thr269=) rs372419950 0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
NM_023036.6(DNAI2):c.1040G>A (p.Arg347His) rs138489039 0.00014
NM_024649.5(BBS1):c.*104G>C rs554182779 0.00014
NM_024649.5(BBS1):c.200G>A (p.Arg67His) rs145718265 0.00014
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_033028.5(BBS4):c.*770C>T rs777872738 0.00014
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 0.00014
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908 0.00014
NM_153704.6(TMEM67):c.869+9A>G rs372597584 0.00014
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00014
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln) rs149042169 0.00014
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636 0.00014
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=) rs371066430 0.00013
NM_001134831.2(AHI1):c.2962-3T>C rs369713977 0.00013
NM_001173990.2(TMEM216):c.-135T>C rs183785901 0.00013
NM_001369.3(DNAH5):c.2047C>T (p.Arg683Trp) rs182512638 0.00013
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val) rs200101760 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001377.3(DYNC2H1):c.3643C>T (p.Arg1215Cys) rs746768637 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=) rs199675558 0.00013
NM_001384732.1(CPLANE1):c.8908G>A (p.Ala2970Thr) rs369585190 0.00013
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_012210.4(TRIM32):c.*1416A>G rs572710748 0.00013
NM_012472.6(DNAAF11):c.611C>T (p.Ala204Val) rs376633613 0.00013
NM_014714.4(IFT140):c.*46T>G rs761282751 0.00013
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) rs150129370 0.00013
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00013
NM_015102.5(NPHP4):c.-202C>T rs145074678 0.00013
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) rs749571139 0.00013
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp) rs762383978 0.00013
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239 0.00013
NM_015120.4(ALMS1):c.-64C>T rs886056293 0.00013
NM_017950.4(CCDC40):c.*18G>A rs746718107 0.00013
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_025132.4(WDR19):c.1134+13T>G rs374615138 0.00013
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) rs373737104 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_152618.3(BBS12):c.-109G>T rs886059057 0.00013
NM_153240.5(NPHP3):c.3570+4A>G rs374989123 0.00013
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00013
NM_153717.3(EVC):c.*1871C>T rs150764469 0.00013
NM_153717.3(EVC):c.*2569C>T rs117573606 0.00013
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00013
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys) rs368031148 0.00013
NM_181426.2(CCDC39):c.1362+13T>C rs369141426 0.00013
NM_181426.2(CCDC39):c.396G>A (p.Leu132=) rs201923286 0.00013
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719 0.00013
NM_198525.3(KIF7):c.1922+13C>T rs376321790 0.00013
NM_001044385.3(TMEM237):c.*1151C>T rs188943302 0.00012
NM_001199397.3(NEK1):c.*459A>C rs1038930121 0.00012
NM_001277115.2(DNAH11):c.3545G>A (p.Arg1182Gln) rs368316519 0.00012
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val) rs201939338 0.00012
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=) rs144001451 0.00012
NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His) rs188113889 0.00012
NM_001377.3(DYNC2H1):c.11185C>T (p.Pro3729Ser) rs199766341 0.00012
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln) rs564701277 0.00012
NM_001377.3(DYNC2H1):c.9231+12G>A rs369045696 0.00012
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573 0.00012
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_014714.4(IFT140):c.2768+12C>T rs756491638 0.00012
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile) rs367727948 0.00012
NM_017950.4(CCDC40):c.*199G>A rs886053536 0.00012
NM_017950.4(CCDC40):c.*706T>C rs373188258 0.00012
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His) rs373746597 0.00012
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324 0.00012
NM_020800.2(IFT80):c.-392T>G rs886058139 0.00012
NM_024685.4(BBS10):c.*1250A>G rs182439491 0.00012
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_031885.5(BBS2):c.*91C>T rs148188874 0.00012
NM_152618.3(BBS12):c.*425C>T rs890616532 0.00012
NM_153240.5(NPHP3):c.*46A>G rs530016526 0.00012
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682 0.00012
NM_153717.3(EVC):c.*1369G>A rs1414205292 0.00012
NM_153717.3(EVC):c.*1403C>T rs547015924 0.00012
NM_153717.3(EVC):c.-20C>A rs991444136 0.00012
NM_178452.5(DNAAF1):c.-141G>A rs886052363 0.00012
NM_178452.6(DNAAF1):c.1030+14C>T rs202113269 0.00012
NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=) rs769877978 0.00012
NM_178452.6(DNAAF1):c.2107G>A (p.Gly703Arg) rs4150188 0.00012
NM_181426.2(CCDC39):c.*734T>C rs148310806 0.00012
NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys) rs202027034 0.00012
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala) rs781571059 0.00011
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys) rs199612496 0.00011
NM_001199397.3(NEK1):c.912T>C (p.Pro304=) rs139433990 0.00011
NM_001277115.2(DNAH11):c.10569-15C>T rs371205337 0.00011
NM_001277115.2(DNAH11):c.3422A>T (p.Asp1141Val) rs373365959 0.00011
NM_001277115.2(DNAH11):c.7980A>C (p.Gln2660His) rs752284064 0.00011
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=) rs755149967 0.00011
NM_001369.3(DNAH5):c.13437C>T (p.Cys4479=) rs376510352 0.00011
NM_001369.3(DNAH5):c.2203G>C (p.Ala735Pro) rs150793327 0.00011
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met) rs146828513 0.00011
NM_001369.3(DNAH5):c.3397-8G>T rs200694593 0.00011
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) rs377529350 0.00011
NM_001377.3(DYNC2H1):c.6139+7C>T rs200749262 0.00011
NM_001377.3(DYNC2H1):c.7828G>A (p.Val2610Ile) rs566035585 0.00011
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216 0.00011
NM_001378615.1(CC2D2A):c.717+11T>C rs184351317 0.00011
NM_001384732.1(CPLANE1):c.*872A>C rs886060568 0.00011
NM_001384732.1(CPLANE1):c.1872C>T (p.Ser624=) rs886060582 0.00011
NM_001384732.1(CPLANE1):c.4953A>G (p.Val1651=) rs373122844 0.00011
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser) rs200997003 0.00011
NM_014714.4(IFT140):c.2724C>T (p.Ala908=) rs138166567 0.00011
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr) rs751861503 0.00011
NM_014714.4(IFT140):c.3874-10A>C rs761503137 0.00011
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val) rs369335626 0.00011
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met) rs201433248 0.00011
NM_015272.5(RPGRIP1L):c.*588A>G rs894081042 0.00011
NM_015681.6(B9D1):c.516C>T (p.Asn172=) rs149758860 0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_016464.5(TMEM138):c.-23G>A rs192056545 0.00011
NM_016464.5(TMEM138):c.-55G>A rs555405590 0.00011
NM_016464.5(TMEM138):c.-71G>A rs199532763 0.00011
NM_017950.4(CCDC40):c.1221C>T (p.Ile407=) rs760734578 0.00011
NM_017950.4(CCDC40):c.3021+13G>A rs762011731 0.00011
NM_018139.3(DNAAF2):c.1315G>C (p.Asp439His) rs371126037 0.00011
NM_018718.3(CEP41):c.*1773A>G rs782011799 0.00011
NM_018718.3(CEP41):c.*859G>A rs781930185 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_019892.6(INPP5E):c.-271C>T rs886063714 0.00011
NM_020779.4(WDR35):c.*2618G>A rs563586298 0.00011
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757 0.00011
NM_023036.6(DNAI2):c.1776G>A (p.Ala592=) rs200861036 0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_024685.4(BBS10):c.*734G>T rs750187536 0.00011
NM_024753.5(TTC21B):c.*424A>G rs117664297 0.00011
NM_024753.5(TTC21B):c.*910C>T rs745335688 0.00011
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 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_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.6+5A>G rs201198839 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_031427.4(DNAL1):c.*2600_*2604del rs770668475 0.00011
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys) rs371876802 0.00011
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) rs145786485 0.00011
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197 0.00011
NM_153717.3(EVC):c.*1568C>T rs886059514 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021 0.00011
NM_178452.6(DNAAF1):c.2065+5G>A rs774606576 0.00011
NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=) rs145469545 0.00011
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=) rs370128838 0.00011
NM_181426.2(CCDC39):c.*229G>A rs542764865 0.00011
NM_181426.2(CCDC39):c.*791C>T rs755506263 0.00011
NM_181426.2(CCDC39):c.1034+11A>G rs780737889 0.00011
NM_181426.2(CCDC39):c.210+4C>T rs182803063 0.00011
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His) rs147183244 0.00011
NM_181426.2(CCDC39):c.885G>A (p.Thr295=) rs775454434 0.00011
NM_198525.3(KIF7):c.1297C>A (p.Pro433Thr) rs932033181 0.00011
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val) rs570856269 0.00011
NM_198525.3(KIF7):c.2364G>C (p.Arg788Ser) rs117123311 0.00011
NM_001044385.3(TMEM237):c.*1148A>G rs558665286 0.00010
NM_001044385.3(TMEM237):c.*1762G>A rs886055441 0.00010
NM_001044385.3(TMEM237):c.*2465A>G rs527921749 0.00010
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704 0.00010
NM_001199397.3(NEK1):c.*641T>C rs960594763 0.00010
NM_001199397.3(NEK1):c.642G>A (p.Lys214=) rs369725706 0.00010
NM_001277115.2(DNAH11):c.5318A>G (p.His1773Arg) rs200295318 0.00010
NM_001369.3(DNAH5):c.*1506G>A rs574438524 0.00010
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala) rs141971313 0.00010
NM_001369.3(DNAH5):c.12546G>A (p.Lys4182=) rs146330391 0.00010
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=) rs199951976 0.00010
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile) rs369279743 0.00010
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His) rs148539877 0.00010
NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met) rs201852557 0.00010
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr) rs368447956 0.00010
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=) rs756341605 0.00010
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00010
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236 0.00010
NM_001384732.1(CPLANE1):c.*408G>A rs145945346 0.00010
NM_001384732.1(CPLANE1):c.3747C>T (p.Ile1249=) rs145484347 0.00010
NM_001384732.1(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299 0.00010
NM_012210.4(TRIM32):c.*1354C>A rs763188009 0.00010
NM_014714.4(IFT140):c.*118G>A rs372303683 0.00010
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp) rs749099710 0.00010
NM_015102.5(NPHP4):c.-52G>T rs886046468 0.00010
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala) rs199561679 0.00010
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798 0.00010
NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser) rs369786224 0.00010
NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys) rs374934704 0.00010
NM_016464.5(TMEM138):c.*92G>C rs372997712 0.00010
NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys) rs199850214 0.00010
NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys) rs202220442 0.00010
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=) rs79588289 0.00010
NM_017950.4(CCDC40):c.966C>T (p.Ala322=) rs369089505 0.00010
NM_018718.3(CEP41):c.422+6C>T rs199678365 0.00010
NM_020800.2(IFT80):c.-410G>T rs113776466 0.00010
NM_023036.6(DNAI2):c.-21C>T rs753355539 0.00010
NM_024685.4(BBS10):c.-48C>G rs752162179 0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe) rs140323384 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg) rs190192706 0.00010
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 0.00010
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849 0.00010
NM_152732.5(RSPH9):c.415C>T (p.Arg139Cys) rs368519003 0.00010
NM_153717.3(EVC):c.*2847G>A rs935054019 0.00010
NM_153717.3(EVC):c.*355C>G rs933138943 0.00010
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621 0.00010
NM_178452.6(DNAAF1):c.1173G>A (p.Pro391=) rs370819090 0.00010
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) rs79353057 0.00010
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776 0.00010
NM_198525.3(KIF7):c.1576G>A (p.Glu526Lys) rs1436845524 0.00010
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=) rs147767277 0.00010
NM_198525.3(KIF7):c.698G>A (p.Ser233Asn) rs1227236239 0.00010
NM_000272.3(NPHP1):c.-54C>T rs777453061 0.00009
NM_001010892.3(RSPH4A):c.1334C>T (p.Pro445Leu) rs139677155 0.00009
NM_001010892.3(RSPH4A):c.1828C>T (p.Arg610Trp) rs149268378 0.00009
NM_001010892.3(RSPH4A):c.237A>G (p.Thr79=) rs145831200 0.00009
NM_001023570.4(IQCB1):c.*151T>C rs1019317263 0.00009
NM_001044385.3(TMEM237):c.*492T>C rs530304720 0.00009
NM_001044385.3(TMEM237):c.-61G>A rs571550977 0.00009
NM_001134831.2(AHI1):c.*447T>A rs886061106 0.00009
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336 0.00009
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581 0.00009
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001173990.2(TMEM216):c.-91G>A rs557559653 0.00009
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=) rs56346829 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.12534A>G (p.Pro4178=) rs752183095 0.00009
NM_001277115.2(DNAH11):c.1567T>C (p.Tyr523His) rs200126117 0.00009
NM_001369.3(DNAH5):c.*920A>G rs1386874771 0.00009
NM_001369.3(DNAH5):c.12123A>C (p.Pro4041=) rs149580135 0.00009
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln) rs140832239 0.00009
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly) rs368776967 0.00009
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys) rs201242847 0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=) rs371157628 0.00009
NM_001369.3(DNAH5):c.393C>T (p.Ile131=) rs202190908 0.00009
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036 0.00009
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val) rs139902197 0.00009
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val) rs201224700 0.00009
NM_001377.3(DYNC2H1):c.8041A>G (p.Ile2681Val) rs201540484 0.00009
NM_001377.3(DYNC2H1):c.8833-3T>C rs551227065 0.00009
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His) rs373906628 0.00009
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg) rs375167917 0.00009
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521 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_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169 0.00009
NM_012144.4(DNAI1):c.-83G>C rs766124282 0.00009
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met) rs201754555 0.00009
NM_012472.6(DNAAF11):c.27T>G (p.Ile9Met) rs200906172 0.00009
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr) rs139008774 0.00009
NM_014714.4(IFT140):c.*430G>A rs532233762 0.00009
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) rs201384469 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=) rs753733095 0.00009
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln) rs200128117 0.00009
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile) rs200702924 0.00009
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=) rs187149431 0.00009
NM_015102.5(NPHP4):c.3445C>T (p.Arg1149Cys) rs201605415 0.00009
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_015910.7(WDPCP):c.*541C>G rs532612381 0.00009
NM_015910.7(WDPCP):c.2159-13T>C rs202221613 0.00009
NM_015910.7(WDPCP):c.990A>G (p.Ser330=) rs371090606 0.00009
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) rs771585740 0.00009
NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr) rs371071557 0.00009
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met) rs200902099 0.00009
NM_018139.3(DNAAF2):c.1468A>G (p.Ser490Gly) rs367597118 0.00009
NM_018718.3(CEP41):c.*1644A>G rs533265295 0.00009
NM_018718.3(CEP41):c.*2111A>G rs180725211 0.00009
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429 0.00009
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr) rs187724945 0.00009
NM_020779.4(WDR35):c.*2559A>G rs751743368 0.00009
NM_020779.4(WDR35):c.*2887T>C rs749198501 0.00009
NM_020779.4(WDR35):c.*712A>T rs572859023 0.00009
NM_020800.2(IFT80):c.-376G>C rs886058138 0.00009
NM_020800.3(IFT80):c.*318C>T rs1044166523 0.00009
NM_020800.3(IFT80):c.2289A>G (p.Gln763=) rs142438830 0.00009
NM_020800.3(IFT80):c.707C>T (p.Ala236Val) rs774857269 0.00009
NM_024649.5(BBS1):c.1110+15C>T rs371084544 0.00009
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642 0.00009
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479 0.00009
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555 0.00009
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789 0.00009
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) rs146201603 0.00009
NM_024753.5(TTC21B):c.783G>T (p.Gly261=) rs200255917 0.00009
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys) rs369121651 0.00009
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837 0.00009
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_025132.4(WDR19):c.2364-15T>C rs771036360 0.00009
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys) rs144696430 0.00009
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_152618.3(BBS12):c.-157C>T rs886059055 0.00009
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765 0.00009
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330 0.00009
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00009
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816 0.00009
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
NM_170784.3(MKKS):c.*21A>G rs532973454 0.00009
NM_176824.3(BBS7):c.*724C>T rs1025886041 0.00009
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val) rs141224967 0.00009
NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=) rs764511452 0.00009
NM_181426.2(CCDC39):c.1728C>T (p.His576=) rs376737530 0.00009
NM_198428.3(BBS9):c.2509A>G (p.Met837Val) rs771310981 0.00009
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133 0.00009
NM_198525.3(KIF7):c.3973C>T (p.Arg1325Trp) rs777140020 0.00009
NM_000272.4(NPHP1):c.*460T>A rs960612307 0.00008
NM_001023570.4(IQCB1):c.-12-4A>T rs760242984 0.00008
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile) rs528354205 0.00008
NM_001277115.2(DNAH11):c.3649-14C>G rs750945230 0.00008
NM_001277115.2(DNAH11):c.4012-8G>A rs374349753 0.00008
NM_001277115.2(DNAH11):c.845T>C (p.Met282Thr) rs747087320 0.00008
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=) rs199735129 0.00008
NM_001369.3(DNAH5):c.3202G>C (p.Ala1068Pro) rs200249508 0.00008
NM_001369.3(DNAH5):c.56C>T (p.Thr19Met) rs757712771 0.00008
NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala) rs368863709 0.00008
NM_001369.3(DNAH5):c.7867A>G (p.Thr2623Ala) rs371099382 0.00008
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 0.00008
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe) rs201706790 0.00008
NM_001377.3(DYNC2H1):c.12389A>G (p.Lys4130Arg) rs368043505 0.00008
NM_001377.3(DYNC2H1):c.1662-3T>C rs548328948 0.00008
NM_001377.3(DYNC2H1):c.1732C>G (p.Arg578Gly) rs776317704 0.00008
NM_001377.3(DYNC2H1):c.7597C>T (p.Arg2533Cys) rs754889986 0.00008
NM_001384732.1(CPLANE1):c.*813A>G rs187198752 0.00008
NM_001384732.1(CPLANE1):c.8474C>T (p.Thr2825Ile) rs142316931 0.00008
NM_001384732.1(CPLANE1):c.9031G>A (p.Glu3011Lys) rs200358545 0.00008
NM_012210.4(TRIM32):c.*1246T>C rs573622329 0.00008
NM_012210.4(TRIM32):c.27G>C (p.Leu9=) rs201891227 0.00008
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe) rs751137317 0.00008
NM_014714.4(IFT140):c.1649G>A (p.Arg550Gln) rs762399912 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00008
NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu) rs543726103 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_015910.7(WDPCP):c.-176G>C rs151273399 0.00008
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser) rs765923597 0.00008
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu) rs773659373 0.00008
NM_017950.4(CCDC40):c.1806+15G>A rs767093580 0.00008
NM_017950.4(CCDC40):c.28C>G (p.Arg10Gly) rs377599647 0.00008
NM_018718.3(CEP41):c.*3965A>G rs781992723 0.00008
NM_020779.4(WDR35):c.*563T>G rs561642193 0.00008
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys) rs201860485 0.00008
NM_020800.2(IFT80):c.-243G>A rs559709322 0.00008
NM_020800.3(IFT80):c.*1222T>C rs888235238 0.00008
NM_020800.3(IFT80):c.*944A>G rs976734188 0.00008
NM_020800.3(IFT80):c.691C>T (p.Pro231Ser) rs149447674 0.00008
NM_020800.3(IFT80):c.804C>T (p.Asn268=) rs375407595 0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln) rs201335653 0.00008
NM_024753.5(TTC21B):c.795+3A>G rs753275145 0.00008
NM_024809.5(TCTN2):c.564+3A>C rs761089886 0.00008
NM_025132.4(WDR19):c.1357-7G>A rs377101599 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_031885.3(BBS2):c.-208G>A rs977994154 0.00008
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) rs370111364 0.00008
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg) rs200743695 0.00008
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile) rs765722959 0.00008
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln) rs752020764 0.00008
NM_176824.3(BBS7):c.*1139T>C rs542533305 0.00008
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109 0.00008
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu) rs201263027 0.00008
NM_198428.3(BBS9):c.1538-9G>T rs770317221 0.00008
NM_198525.3(KIF7):c.3225G>A (p.Ser1075=) rs375802364 0.00008
NM_198525.3(KIF7):c.3871G>A (p.Glu1291Lys) rs751191936 0.00008
NM_001010892.3(RSPH4A):c.-88A>G rs780704629 0.00007
NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=) rs143732959 0.00007
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_001173990.3(TMEM216):c.*525T>G rs982189283 0.00007
NM_001199397.3(NEK1):c.1140+4G>A rs369300755 0.00007
NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=) rs776924184 0.00007
NM_001277115.2(DNAH11):c.12406C>T (p.Arg4136Cys) rs368992056 0.00007
NM_001277115.2(DNAH11):c.1848G>A (p.Gln616=) rs369146775 0.00007
NM_001277115.2(DNAH11):c.6662C>T (p.Thr2221Ile) rs373624232 0.00007
NM_001277115.2(DNAH11):c.6983C>T (p.Pro2328Leu) rs745645801 0.00007
NM_001277115.2(DNAH11):c.8316+7G>A rs369837420 0.00007
NM_001277115.2(DNAH11):c.9103-15T>C rs551974653 0.00007
NM_001369.3(DNAH5):c.*1361G>T rs886059930 0.00007
NM_001369.3(DNAH5):c.*281T>C rs936169293 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_001377.3(DYNC2H1):c.*435A>G rs1026849744 0.00007
NM_001377.3(DYNC2H1):c.11287G>A (p.Ala3763Thr) rs780426783 0.00007
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_001384732.1(CPLANE1):c.3428G>A (p.Arg1143Lys) rs377503881 0.00007
NM_001384732.1(CPLANE1):c.9155C>G (p.Ser3052Cys) rs557372169 0.00007
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp) rs756877115 0.00007
NM_014714.4(IFT140):c.1010-10C>T rs376722338 0.00007
NM_014714.4(IFT140):c.1653-14C>T rs148433720 0.00007
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612 0.00007
NM_015681.6(B9D1):c.597C>G (p.Pro199=) rs753785719 0.00007
NM_018139.3(DNAAF2):c.1719A>G (p.Gln573=) rs370699646 0.00007
NM_018139.3(DNAAF2):c.384C>A (p.Gly128=) rs200484042 0.00007
NM_018718.3(CEP41):c.*1284A>G rs376297063 0.00007
NM_018718.3(CEP41):c.*1336A>G rs781954428 0.00007
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr) rs200837258 0.00007
NM_020779.4(WDR35):c.*1146T>C rs1036362475 0.00007
NM_020779.4(WDR35):c.*1207C>G rs1466981368 0.00007
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu) rs774768083 0.00007
NM_020800.3(IFT80):c.2224-9C>T rs752574778 0.00007
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser) rs148073122 0.00007
NM_023036.6(DNAI2):c.284G>A (p.Arg95His) rs201521142 0.00007
NM_023036.6(DNAI2):c.610+12C>T rs374447879 0.00007
NM_024685.4(BBS10):c.375G>A (p.Arg125=) rs376030299 0.00007
NM_024753.5(TTC21B):c.876A>G (p.Thr292=) rs185247361 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025132.4(WDR19):c.1839A>G (p.Leu613=) rs201320006 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_033028.5(BBS4):c.405+7A>G rs778651927 0.00007
NM_153240.5(NPHP3):c.*231A>T rs753577987 0.00007
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) rs368126549 0.00007
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534 0.00007
NM_153704.6(TMEM67):c.2907+9T>C rs372865972 0.00007
NM_153717.3(EVC):c.*662G>A rs866110948 0.00007
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly) rs540660500 0.00007
NM_176824.3(BBS7):c.*932T>G rs3217755 0.00007
NM_181426.2(CCDC39):c.1176T>C (p.Asp392=) rs749497447 0.00007
NM_181426.2(CCDC39):c.1833G>A (p.Ala611=) rs371164022 0.00007
NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser) rs201996796 0.00007
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_001010892.3(RSPH4A):c.1247C>T (p.Ala416Val) rs61738662 0.00006
NM_001010892.3(RSPH4A):c.1748T>C (p.Ile583Thr) rs141807210 0.00006
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=) rs149259534 0.00006
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=) rs373762948 0.00006
NM_001044385.3(TMEM237):c.*1560C>T rs983166297 0.00006
NM_001044385.3(TMEM237):c.*3992A>G rs768173661 0.00006
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=) rs371899538 0.00006
NM_001128178.3(NPHP1):c.1761+5A>C rs201030203 0.00006
NM_001134831.2(AHI1):c.10+13T>C rs973391845 0.00006
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 0.00006
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187 0.00006
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930 0.00006
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073 0.00006
NM_001173990.3(TMEM216):c.*372C>T rs565159932 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001277115.2(DNAH11):c.2328G>A (p.Thr776=) rs372387032 0.00006
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 0.00006
NM_001277115.2(DNAH11):c.3786A>G (p.Arg1262=) rs756045492 0.00006
NM_001277115.2(DNAH11):c.6664C>G (p.Arg2222Gly) rs773498002 0.00006
NM_001277115.2(DNAH11):c.7292G>T (p.Ser2431Ile) rs185039462 0.00006
NM_001277115.2(DNAH11):c.9280G>A (p.Glu3094Lys) rs368259931 0.00006
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys) rs550602612 0.00006
NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln) rs142258123 0.00006
NM_001369.3(DNAH5):c.10377C>T (p.Asp3459=) rs139317626 0.00006
NM_001369.3(DNAH5):c.10593T>A (p.Ser3531=) rs200974254 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.2235C>T (p.Tyr745=) rs139916610 0.00006
NM_001369.3(DNAH5):c.4071C>T (p.Ser1357=) rs201264488 0.00006
NM_001369.3(DNAH5):c.4262G>A (p.Ser1421Asn) rs774855042 0.00006
NM_001369.3(DNAH5):c.4614G>A (p.Ala1538=) rs78667898 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala) rs373657849 0.00006
NM_001369.3(DNAH5):c.7452C>A (p.Phe2484Leu) rs561666802 0.00006
NM_001369.3(DNAH5):c.7752+3A>G rs200385399 0.00006
NM_001377.3(DYNC2H1):c.12854A>G (p.Asp4285Gly) rs886047583 0.00006
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) rs189533535 0.00006
NM_001377.3(DYNC2H1):c.3138C>G (p.Ile1046Met) rs377076883 0.00006
NM_001377.3(DYNC2H1):c.8539+5T>C rs765643615 0.00006
NM_001377.3(DYNC2H1):c.9349G>A (p.Glu3117Lys) rs200870508 0.00006
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg) rs534635095 0.00006
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu) rs200034384 0.00006
NM_001384732.1(CPLANE1):c.*1318A>G rs145399031 0.00006
NM_001384732.1(CPLANE1):c.1123C>T (p.Pro375Ser) rs774016809 0.00006
NM_001384732.1(CPLANE1):c.1680G>A (p.Glu560=) rs749473632 0.00006
NM_001384732.1(CPLANE1):c.4355C>T (p.Ser1452Phe) rs138792462 0.00006
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His) rs771622959 0.00006
NM_001384732.1(CPLANE1):c.9252G>A (p.Pro3084=) rs371595122 0.00006
NM_012144.4(DNAI1):c.1407G>T (p.Lys469Asn) rs189377425 0.00006
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_012144.4(DNAI1):c.358C>T (p.Arg120Trp) rs766328772 0.00006
NM_012210.4(TRIM32):c.*1424C>G rs886473067 0.00006
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) rs200196832 0.00006
NM_012472.6(DNAAF11):c.974+14C>A rs780037666 0.00006
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val) rs748463111 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val) rs369425839 0.00006
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) rs555330165 0.00006
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=) rs149359139 0.00006
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly) rs369344801 0.00006
NM_015102.5(NPHP4):c.1166T>C (p.Val389Ala) rs368324380 0.00006
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705 0.00006
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027 0.00006
NM_015102.5(NPHP4):c.3231+5G>A rs886046460 0.00006
NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys) rs774386141 0.00006
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754 0.00006
NM_015272.5(RPGRIP1L):c.*1276G>A rs375800554 0.00006
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090 0.00006
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762 0.00006
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087 0.00006
NM_015910.6(WDPCP):c.-227C>G rs376940318 0.00006
NM_015910.7(WDPCP):c.209-1G>A rs767481770 0.00006
NM_016464.5(TMEM138):c.*354C>G rs889868449 0.00006
NM_016464.5(TMEM138):c.*547C>T rs781358495 0.00006
NM_016464.5(TMEM138):c.-164T>C rs886048407 0.00006
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser) rs928775924 0.00006
NM_017777.4(MKS1):c.729G>A (p.Thr243=) rs373491923 0.00006
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) rs372976809 0.00006
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met) rs376363442 0.00006
NM_017950.4(CCDC40):c.2609G>A (p.Arg870His) rs373717036 0.00006
NM_018139.3(DNAAF2):c.1781C>T (p.Ala594Val) rs181040532 0.00006
NM_018139.3(DNAAF2):c.270G>C (p.Val90=) rs767758073 0.00006
NM_018718.3(CEP41):c.*1411G>T rs886061996 0.00006
NM_018718.3(CEP41):c.*409A>C rs782042681 0.00006
NM_018718.3(CEP41):c.*776G>A rs374833862 0.00006
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_018719.5(CDCA7L):c.*887G>A rs886062191 0.00006
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275 0.00006
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370 0.00006
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466 0.00006
NM_020779.4(WDR35):c.1250A>T (p.Asp417Val) rs371757004 0.00006
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln) rs146380332 0.00006
NM_020779.4(WDR35):c.2137G>A (p.Asp713Asn) rs778732776 0.00006
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser) rs200258619 0.00006
NM_020800.3(IFT80):c.1205G>A (p.Arg402His) rs147955112 0.00006
NM_023036.6(DNAI2):c.-17C>A rs754497256 0.00006
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val) rs779742315 0.00006
NM_023036.6(DNAI2):c.1552C>T (p.Arg518Trp) rs377582813 0.00006
NM_023036.6(DNAI2):c.1712C>T (p.Thr571Met) rs373090022 0.00006
NM_024649.5(BBS1):c.*473C>T rs886048526 0.00006
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) rs146072788 0.00006
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304 0.00006
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln) rs142648652 0.00006
NM_024685.4(BBS10):c.*1325T>C rs571032291 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=) rs199559023 0.00006
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) rs570679271 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr) rs372235872 0.00006
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=) rs553095875 0.00006
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr) rs147746146 0.00006
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.5709+12A>G rs371010287 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_031885.5(BBS2):c.-147G>T rs886052154 0.00006
NM_033028.5(BBS4):c.1083C>T (p.Tyr361=) rs749282837 0.00006
NM_033028.5(BBS4):c.1107-7G>A rs766664389 0.00006
NM_144596.4(TTC8):c.*247T>C rs886050879 0.00006
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys) rs144270330 0.00006
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723 0.00006
NM_147127.5(EVC2):c.2829+9A>C rs370232376 0.00006
NM_147127.5(EVC2):c.337C>T (p.Leu113Phe) rs768224457 0.00006
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00006
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713 0.00006
NM_152732.5(RSPH9):c.276G>A (p.Met92Ile) rs147713380 0.00006
NM_153240.5(NPHP3):c.*784C>T rs376015619 0.00006
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu) rs147836124 0.00006
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404 0.00006
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813 0.00006
NM_153704.6(TMEM67):c.*1424C>A rs1024783132 0.00006
NM_153704.6(TMEM67):c.2556+4T>G rs772449181 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153717.3(EVC):c.*1150A>G rs1195713966 0.00006
NM_153717.3(EVC):c.*1313C>T rs548196260 0.00006
NM_153717.3(EVC):c.*1554A>C rs531598994 0.00006
NM_153717.3(EVC):c.*2321C>T rs928733602 0.00006
NM_153717.3(EVC):c.*2361C>T rs570533057 0.00006
NM_153717.3(EVC):c.*2466G>A rs572400824 0.00006
NM_153717.3(EVC):c.*3118C>G rs906071299 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_170784.3(MKKS):c.*460T>C rs886056496 0.00006
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599 0.00006
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362 0.00006
NM_178452.6(DNAAF1):c.-100G>A rs886052364 0.00006
NM_198525.3(KIF7):c.*87C>A rs886051528 0.00006
NM_198525.3(KIF7):c.1296G>A (p.Leu432=) rs886051533 0.00006
NM_198525.3(KIF7):c.2322C>A (p.Leu774=) rs145339415 0.00006
NM_198525.3(KIF7):c.2585G>A (p.Arg862His) rs202057334 0.00006
NM_198525.3(KIF7):c.530-7C>T rs202043641 0.00006
NM_198525.3(KIF7):c.588G>T (p.Leu196=) rs191721354 0.00006
NM_198525.3(KIF7):c.924-14C>T rs573998309 0.00006
NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser) rs762313827 0.00005
NM_001044385.3(TMEM237):c.*3385C>T rs374762322 0.00005
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_001199397.3(NEK1):c.-499G>C rs763112279 0.00005
NM_001199397.3(NEK1):c.1427A>G (p.Glu476Gly) rs765781871 0.00005
NM_001277115.2(DNAH11):c.126G>A (p.Glu42=) rs748250611 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.4964A>G (p.Lys1655Arg) rs371049362 0.00005
NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=) rs202012891 0.00005
NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=) rs774129338 0.00005
NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp) rs201618364 0.00005
NM_001369.3(DNAH5):c.11826A>G (p.Thr3942=) rs140220517 0.00005
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp) rs753960777 0.00005
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu) rs752010216 0.00005
NM_001369.3(DNAH5):c.1830G>A (p.Gln610=) rs549164618 0.00005
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys) rs745321705 0.00005
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=) rs377432140 0.00005
NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr) rs758513686 0.00005
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr) rs117989731 0.00005
NM_001369.3(DNAH5):c.6659C>T (p.Pro2220Leu) rs144308691 0.00005
NM_001369.3(DNAH5):c.727C>G (p.Leu243Val) rs761877376 0.00005
NM_001377.3(DYNC2H1):c.12456+7C>T rs372189534 0.00005
NM_001377.3(DYNC2H1):c.12817A>C (p.Thr4273Pro) rs374409204 0.00005
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=) rs199909714 0.00005
NM_001384732.1(CPLANE1):c.5311T>C (p.Tyr1771His) rs748355456 0.00005
NM_001384732.1(CPLANE1):c.7099A>G (p.Lys2367Glu) rs778278672 0.00005
NM_001384732.1(CPLANE1):c.8197C>T (p.Arg2733Trp) rs142792453 0.00005
NM_001384732.1(CPLANE1):c.8674C>T (p.His2892Tyr) rs201404524 0.00005
NM_001384732.1(CPLANE1):c.9386T>C (p.Val3129Ala) rs1347117644 0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu) rs560719255 0.00005
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=) rs750785483 0.00005
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=) rs141965401 0.00005
NM_014714.4(IFT140):c.2817G>A (p.Ser939=) rs373651150 0.00005
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 0.00005
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln) rs768347263 0.00005
NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys) rs572497035 0.00005
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508 0.00005
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_015910.7(WDPCP):c.208+11T>C rs201607698 0.00005
NM_017777.4(MKS1):c.*49C>A rs371962780 0.00005
NM_017777.4(MKS1):c.1506G>A (p.Ser502=) rs368535131 0.00005
NM_017777.4(MKS1):c.498G>T (p.Arg166=) rs778956664 0.00005
NM_017950.4(CCDC40):c.1860C>T (p.Gly620=) rs571288423 0.00005
NM_017950.4(CCDC40):c.2841C>T (p.Leu947=) rs573028412 0.00005
NM_017950.4(CCDC40):c.994T>C (p.Tyr332His) rs371604414 0.00005
NM_018718.3(CEP41):c.*1352G>A rs1380245671 0.00005
NM_018718.3(CEP41):c.*1538A>C rs777673385 0.00005
NM_018718.3(CEP41):c.*3193C>T rs886061989 0.00005
NM_018718.3(CEP41):c.*4769C>T rs965337048 0.00005
NM_018718.3(CEP41):c.*614A>G rs781791465 0.00005
NM_018718.3(CEP41):c.*682A>G rs782649697 0.00005
NM_018718.3(CEP41):c.*881G>A rs782801860 0.00005
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743 0.00005
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala) rs200223403 0.00005
NM_020779.4(WDR35):c.*1957C>T rs947201612 0.00005
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val) rs763618858 0.00005
NM_020779.4(WDR35):c.2836G>A (p.Glu946Lys) rs779009587 0.00005
NM_020800.3(IFT80):c.-98G>C rs375150390 0.00005
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu) rs753617262 0.00005
NM_020800.3(IFT80):c.2014A>G (p.Ile672Val) rs767128122 0.00005
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) rs551983792 0.00005
NM_020800.3(IFT80):c.468C>T (p.Gly156=) rs145679417 0.00005
NM_020800.3(IFT80):c.511A>G (p.Ile171Val) rs140163837 0.00005
NM_023036.6(DNAI2):c.1165C>T (p.Arg389Cys) rs375896715 0.00005
NM_023036.6(DNAI2):c.467+3A>G rs751915388 0.00005
NM_023036.6(DNAI2):c.531G>T (p.Lys177Asn) rs776667942 0.00005
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861 0.00005
NM_024753.5(TTC21B):c.*246G>A rs759810831 0.00005
NM_024753.5(TTC21B):c.-44G>A rs1047095367 0.00005
NM_024753.5(TTC21B):c.1677G>C (p.Val559=) rs149842503 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024809.5(TCTN2):c.267+3A>G rs748772785 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_025132.4(WDR19):c.1173C>T (p.Asn391=) rs777985189 0.00005
NM_031885.5(BBS2):c.837C>T (p.Val279=) rs748579225 0.00005
NM_033028.5(BBS4):c.*885T>C rs753912948 0.00005
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp) rs760871098 0.00005
NM_147127.5(EVC2):c.446G>A (p.Arg149His) rs202198132 0.00005
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797 0.00005
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) rs369812327 0.00005
NM_153717.3(EVC):c.*1766C>T rs1012765159 0.00005
NM_153717.3(EVC):c.1019G>A (p.Arg340Gln) rs775052481 0.00005
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln) rs767013073 0.00005
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610 0.00005
NM_170784.3(MKKS):c.874C>T (p.Leu292=) rs758645426 0.00005
NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=) rs368651695 0.00005
NM_178452.6(DNAAF1):c.1528+12G>A rs765784723 0.00005
NM_181426.2(CCDC39):c.*572G>T rs369384019 0.00005
NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys) rs745852520 0.00005
NM_198428.3(BBS9):c.-447A>C rs886062278 0.00005
NM_001023570.4(IQCB1):c.1129+13A>G rs371443898 0.00004
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) rs778777318 0.00004
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) rs139299149 0.00004
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) rs376700204 0.00004
NM_001044385.3(TMEM237):c.*1108A>G rs758086204 0.00004
NM_001044385.3(TMEM237):c.*2964T>A rs955949981 0.00004
NM_001044385.3(TMEM237):c.*74T>C rs190276722 0.00004
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001082538.3(TCTN1):c.-14G>A rs762612208 0.00004
NM_001082538.3(TCTN1):c.644C>A (p.Thr215Asn) rs545613207 0.00004
NM_001128178.3(NPHP1):c.*238T>C rs897567205 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile) rs761804458 0.00004
NM_001134831.2(AHI1):c.2492+15G>A rs535243555 0.00004
NM_001173990.2(TMEM216):c.-264C>T rs1365742655 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001199397.3(NEK1):c.1080G>C (p.Glu360Asp) rs765591688 0.00004
NM_001199397.3(NEK1):c.2587+14G>T rs368032168 0.00004
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=) rs370713361 0.00004
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn) rs35503975 0.00004
NM_001199397.3(NEK1):c.3715-6G>C rs771507979 0.00004
NM_001258400.2(FAM187A):c.-280C>T rs542384155 0.00004
NM_001277115.2(DNAH11):c.10953C>T (p.Asp3651=) rs766635238 0.00004
NM_001277115.2(DNAH11):c.12008A>T (p.Lys4003Met) rs751059559 0.00004
NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser) rs551038953 0.00004
NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg) rs745305844 0.00004
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=) rs535761458 0.00004
NM_001277115.2(DNAH11):c.3263T>C (p.Ile1088Thr) rs755583135 0.00004
NM_001277115.2(DNAH11):c.4944+6del rs531049764 0.00004
NM_001277115.2(DNAH11):c.5241A>G (p.Gln1747=) rs372802443 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.6152C>T (p.Thr2051Met) rs375341444 0.00004
NM_001277115.2(DNAH11):c.6683+16_6683+18del rs750498878 0.00004
NM_001277115.2(DNAH11):c.8386C>G (p.Pro2796Ala) rs139912794 0.00004
NM_001277115.2(DNAH11):c.9292C>T (p.Arg3098Cys) rs769695221 0.00004
NM_001278293.3(ARL6):c.536-4T>C rs201939836 0.00004
NM_001369.3(DNAH5):c.*305C>T rs955336890 0.00004
NM_001369.3(DNAH5):c.*697A>G rs972489046 0.00004
NM_001369.3(DNAH5):c.10192C>T (p.Arg3398Cys) rs147882360 0.00004
NM_001369.3(DNAH5):c.10639C>T (p.Arg3547Trp) rs747041428 0.00004
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00004
NM_001369.3(DNAH5):c.13255G>C (p.Asp4419His) rs373749995 0.00004
NM_001369.3(DNAH5):c.2368G>A (p.Ala790Thr) rs201417702 0.00004
NM_001369.3(DNAH5):c.2984A>G (p.Asp995Gly) rs749983185 0.00004
NM_001369.3(DNAH5):c.3934C>T (p.Arg1312Cys) rs781667158 0.00004
NM_001369.3(DNAH5):c.4139G>A (p.Arg1380Gln) rs779980906 0.00004
NM_001369.3(DNAH5):c.465G>A (p.Ala155=) rs763709302 0.00004
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val) rs752077073 0.00004
NM_001369.3(DNAH5):c.6989-14G>T rs368353964 0.00004
NM_001369.3(DNAH5):c.7306T>C (p.Tyr2436His) rs373885245 0.00004
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala) rs527914224 0.00004
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His) rs756069405 0.00004
NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=) rs770064361 0.00004
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln) rs376626613 0.00004
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu) rs757571550 0.00004
NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His) rs759690887 0.00004
NM_001377.3(DYNC2H1):c.4900A>G (p.Met1634Val) rs753296481 0.00004
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830 0.00004
NM_001377.3(DYNC2H1):c.9217T>C (p.Ser3073Pro) rs199970220 0.00004
NM_001377.3(DYNC2H1):c.9585G>C (p.Glu3195Asp) rs758118161 0.00004
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn) rs373797532 0.00004
NM_001384732.1(CPLANE1):c.1136C>T (p.Thr379Met) rs373606997 0.00004
NM_001384732.1(CPLANE1):c.1312C>T (p.Leu438Phe) rs774184345 0.00004
NM_001384732.1(CPLANE1):c.4054A>G (p.Ile1352Val) rs146808769 0.00004
NM_001384732.1(CPLANE1):c.6123G>A (p.Ser2041=) rs369977822 0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala) rs370118778 0.00004
NM_001384732.1(CPLANE1):c.7764G>A (p.Met2588Ile) rs760750533 0.00004
NM_001384732.1(CPLANE1):c.8514T>C (p.Thr2838=) rs760623510 0.00004
NM_001384732.1(CPLANE1):c.9063C>T (p.Tyr3021=) rs377142277 0.00004
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys) rs190020173 0.00004
NM_012144.4(DNAI1):c.1401+3G>A rs759795923 0.00004
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser) rs201773877 0.00004
NM_012144.4(DNAI1):c.501+10A>C rs765805502 0.00004
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517 0.00004
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln) rs758882829 0.00004
NM_014714.4(IFT140):c.-267G>C rs574385960 0.00004
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr) rs769337607 0.00004
NM_014714.4(IFT140):c.2424G>A (p.Ala808=) rs375979698 0.00004
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln) rs771116194 0.00004
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=) rs375975334 0.00004
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=) rs368713443 0.00004
NM_014714.4(IFT140):c.4048A>G (p.Thr1350Ala) rs756448762 0.00004
NM_014714.4(IFT140):c.4182+15C>T rs374874160 0.00004
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=) rs750381445 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu) rs377160096 0.00004
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp) rs767779934 0.00004
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His) rs760874774 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015910.7(WDPCP):c.*323A>G rs369149310 0.00004
NM_015910.7(WDPCP):c.*582C>G rs184659805 0.00004
NM_015910.7(WDPCP):c.159G>A (p.Ala53=) rs192196713 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_017777.4(MKS1):c.*415G>A rs750194631 0.00004
NM_017777.4(MKS1):c.*469C>T rs386465709 0.00004
NM_017777.4(MKS1):c.*594T>G rs371037402 0.00004
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00004
NM_017950.4(CCDC40):c.*342G>A rs886053537 0.00004
NM_017950.4(CCDC40):c.290A>G (p.Tyr97Cys) rs761769193 0.00004
NM_017950.4(CCDC40):c.506C>T (p.Ser169Leu) rs369066468 0.00004
NM_017950.4(CCDC40):c.614G>A (p.Arg205Gln) rs572093892 0.00004
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala) rs760951742 0.00004
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00004
NM_018139.3(DNAAF2):c.734C>T (p.Ala245Val) rs754858452 0.00004
NM_018718.3(CEP41):c.*3451G>A rs144534675 0.00004
NM_018718.3(CEP41):c.*4385C>T rs556578226 0.00004
NM_018718.3(CEP41):c.*747G>A rs782582354 0.00004
NM_018719.5(CDCA7L):c.*804C>T rs886062192 0.00004
NM_019892.6(INPP5E):c.*13G>A rs199734968 0.00004
NM_019892.6(INPP5E):c.*763G>C rs564573606 0.00004
NM_019892.6(INPP5E):c.-175C>T rs868202242 0.00004
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met) rs200033750 0.00004
NM_019892.6(INPP5E):c.1388-5C>T rs187956407 0.00004
NM_020779.4(WDR35):c.*1219G>A rs1003005484 0.00004
NM_020779.4(WDR35):c.*2989C>T rs886055392 0.00004
NM_020779.4(WDR35):c.*3269G>A rs886055391 0.00004
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) rs536150588 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_020779.4(WDR35):c.1697C>T (p.Thr566Met) rs780159239 0.00004
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His) rs200760434 0.00004
NM_020779.4(WDR35):c.798C>T (p.Ser266=) rs141118263 0.00004
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile) rs573430534 0.00004
NM_020800.2(IFT80):c.-296G>A rs886058136 0.00004
NM_020800.3(IFT80):c.*319G>A rs949785139 0.00004
NM_020800.3(IFT80):c.1104A>T (p.Ile368=) rs369114064 0.00004
NM_020800.3(IFT80):c.209G>A (p.Gly70Asp) rs752892324 0.00004
NM_023036.6(DNAI2):c.1194G>A (p.Ser398=) rs556547267 0.00004
NM_023036.6(DNAI2):c.325G>A (p.Ala109Thr) rs192790912 0.00004
NM_023036.6(DNAI2):c.535G>T (p.Ala179Ser) rs749303157 0.00004
NM_023036.6(DNAI2):c.565C>T (p.Arg189Trp) rs138885031 0.00004
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701 0.00004
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu) rs746206916 0.00004
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560 0.00004
NM_024649.5(BBS1):c.432+13C>T rs759287238 0.00004
NM_024649.5(BBS1):c.830+12C>T rs781283997 0.00004
NM_024685.4(BBS10):c.*1164A>G rs922929416 0.00004
NM_024753.4(TTC21B):c.-89C>G rs868157832 0.00004
NM_024753.5(TTC21B):c.*360C>A rs923460925 0.00004
NM_024753.5(TTC21B):c.*419C>A rs886055024 0.00004
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.3805+13A>G rs529123534 0.00004
NM_024809.5(TCTN2):c.*146C>T rs1046414186 0.00004
NM_024809.5(TCTN2):c.*587C>T rs548909798 0.00004
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=) rs543166165 0.00004
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126 0.00004
NM_025114.4(CEP290):c.-96C>T rs528270888 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.2577G>A (p.Ala859=) rs753596825 0.00004
NM_031885.5(BBS2):c.111G>A (p.Thr37=) rs191867233 0.00004
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144596.4(TTC8):c.800T>A (p.Val267Asp) rs770333148 0.00004
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_147127.5(EVC2):c.1122G>A (p.Gly374=) rs780172151 0.00004
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839 0.00004
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235 0.00004
NM_147127.5(EVC2):c.2706+13T>C rs200000369 0.00004
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln) rs573448772 0.00004
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu) rs370838180 0.00004
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg) rs201158536 0.00004
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986 0.00004
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043 0.00004
NM_152732.5(RSPH9):c.760C>T (p.Arg254Cys) rs200193470 0.00004
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703 0.00004
NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr) rs771832737 0.00004
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177 0.00004
NM_153717.3(EVC):c.*1648T>C rs371788560 0.00004
NM_153717.3(EVC):c.*254G>A rs557237233 0.00004
NM_153717.3(EVC):c.*2593C>T rs943646882 0.00004
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920 0.00004
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.455C>T (p.Pro152Leu) rs371671127 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_170784.3(MKKS):c.463C>T (p.Arg155Cys) rs755050269 0.00004
NM_176824.3(BBS7):c.*605G>A rs886059051 0.00004
NM_178452.6(DNAAF1):c.285A>T (p.Lys95Asn) rs570928611 0.00004
NM_178452.6(DNAAF1):c.767C>T (p.Pro256Leu) rs764943936 0.00004
NM_181426.2(CCDC39):c.-80T>C rs886058200 0.00004
NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg) rs371143749 0.00004
NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr) rs372308915 0.00004
NM_181426.2(CCDC39):c.42G>A (p.Gly14=) rs759103433 0.00004
NM_198428.3(BBS9):c.*337C>T rs1188169231 0.00004
NM_198428.3(BBS9):c.*406A>G rs748029581 0.00004
NM_198428.3(BBS9):c.-206T>G rs953412791 0.00004
NM_198428.3(BBS9):c.1611A>C (p.Pro537=) rs140411078 0.00004
NM_198428.3(BBS9):c.715C>T (p.Leu239=) rs751112173 0.00004
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg) rs377207430 0.00004
NM_198525.3(KIF7):c.1290C>T (p.Pro430=) rs886051534 0.00004
NM_198525.3(KIF7):c.2459G>A (p.Arg820Gln) rs374638470 0.00004
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=) rs146808726 0.00004
NM_198525.3(KIF7):c.3486G>A (p.Gln1162=) rs185689321 0.00004
NM_198525.3(KIF7):c.517C>T (p.Arg173Cys) rs559797970 0.00004
NM_000549.5(TSHB):c.223A>G (p.Arg75Gly) rs201857310 0.00003
NM_001010892.3(RSPH4A):c.*64A>C rs143307769 0.00003
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) rs886057828 0.00003
NM_001044385.3(TMEM237):c.*3697G>A rs761856568 0.00003
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00003
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile) rs776696098 0.00003
NM_001134831.2(AHI1):c.*1684T>C rs75518881 0.00003
NM_001134831.2(AHI1):c.*387T>G rs886061107 0.00003
NM_001134831.2(AHI1):c.*588A>G rs555215397 0.00003
NM_001134831.2(AHI1):c.-347C>T rs1456963108 0.00003
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001173990.3(TMEM216):c.*303C>T rs144613667 0.00003
NM_001173990.3(TMEM216):c.*93T>C rs746881860 0.00003
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) rs35314485 0.00003
NM_001199397.3(NEK1):c.*1062A>G rs1057222414 0.00003
NM_001199397.3(NEK1):c.*835A>G rs886059222 0.00003
NM_001199397.3(NEK1):c.-532A>G rs532947272 0.00003
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly) rs35763578 0.00003
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=) rs776664093 0.00003
NM_001199397.3(NEK1):c.1793A>G (p.Asn598Ser) rs61735896 0.00003
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=) rs760404694 0.00003
NM_001199397.3(NEK1):c.2294A>G (p.Glu765Gly) rs886059231 0.00003
NM_001199397.3(NEK1):c.2999A>C (p.His1000Pro) rs886059228 0.00003
NM_001277115.2(DNAH11):c.10641A>G (p.Ile3547Met) rs368052967 0.00003
NM_001277115.2(DNAH11):c.1133A>C (p.Tyr378Ser) rs375636554 0.00003
NM_001277115.2(DNAH11):c.12336C>T (p.Asp4112=) rs779489580 0.00003
NM_001277115.2(DNAH11):c.1794G>T (p.Met598Ile) rs573727689 0.00003
NM_001277115.2(DNAH11):c.4891G>A (p.Val1631Ile) rs766901693 0.00003
NM_001277115.2(DNAH11):c.8247A>G (p.Lys2749=) rs367806628 0.00003
NM_001277115.2(DNAH11):c.8275T>C (p.Phe2759Leu) rs148656615 0.00003
NM_001369.3(DNAH5):c.*891A>G rs764924502 0.00003
NM_001369.3(DNAH5):c.10451A>T (p.His3484Leu) rs150532311 0.00003
NM_001369.3(DNAH5):c.10640G>A (p.Arg3547Gln) rs779977337 0.00003
NM_001369.3(DNAH5):c.11571-9A>G rs779715252 0.00003
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758 0.00003
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=) rs755874851 0.00003
NM_001369.3(DNAH5):c.12234C>T (p.Gly4078=) rs886059967 0.00003
NM_001369.3(DNAH5):c.13492-11G>T rs749125197 0.00003
NM_001369.3(DNAH5):c.2260-12A>G rs184701603 0.00003
NM_001369.3(DNAH5):c.535A>G (p.Thr179Ala) rs755082450 0.00003
NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=) rs372046349 0.00003
NM_001369.3(DNAH5):c.6109A>G (p.Ile2037Val) rs200551639 0.00003
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg) rs187551830 0.00003
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val) rs189971831 0.00003
NM_001369.3(DNAH5):c.7987A>G (p.Ile2663Val) rs113576049 0.00003
NM_001369.3(DNAH5):c.8006A>T (p.Asp2669Val) rs770090882 0.00003
NM_001369.3(DNAH5):c.8085C>G (p.Thr2695=) rs147427207 0.00003
NM_001369.3(DNAH5):c.8099T>C (p.Ile2700Thr) rs760739660 0.00003
NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys) rs150899380 0.00003
NM_001369.3(DNAH5):c.9590G>A (p.Arg3197Gln) rs573476401 0.00003
NM_001377.3(DYNC2H1):c.11649+4A>T rs372714647 0.00003
NM_001377.3(DYNC2H1):c.11942G>A (p.Arg3981His) rs755554260 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001377.3(DYNC2H1):c.12736C>T (p.Leu4246Phe) rs1406947485 0.00003
NM_001377.3(DYNC2H1):c.2828A>G (p.His943Arg) rs747923490 0.00003
NM_001377.3(DYNC2H1):c.4002G>A (p.Glu1334=) rs886047562 0.00003
NM_001377.3(DYNC2H1):c.5791T>A (p.Leu1931Met) rs776705698 0.00003
NM_001377.3(DYNC2H1):c.8473A>G (p.Ser2825Gly) rs886047569 0.00003
NM_001377.3(DYNC2H1):c.8780C>T (p.Thr2927Met) rs752196931 0.00003
NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962 0.00003
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=) rs1379770755 0.00003
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980 0.00003
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val) rs200044412 0.00003
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878 0.00003
NM_001384732.1(CPLANE1):c.1055C>T (p.Thr352Ile) rs1443893630 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.2428T>G (p.Cys810Gly) rs886060581 0.00003
NM_001384732.1(CPLANE1):c.3090G>A (p.Thr1030=) rs768564404 0.00003
NM_001384732.1(CPLANE1):c.7331G>A (p.Gly2444Glu) rs751548147 0.00003
NM_001384732.1(CPLANE1):c.9263A>G (p.His3088Arg) rs547370426 0.00003
NM_001384732.1(CPLANE1):c.9633dup (p.Val3212fs) rs765432713 0.00003
NM_001394148.2(LOC128706665):c.-22+2430T>G rs377246386 0.00003
NM_006642.5(SDCCAG8):c.-131T>C rs886046327 0.00003
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278 0.00003
NM_006642.5(SDCCAG8):c.676-4A>G rs377256554 0.00003
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys) rs754554333 0.00003
NM_012210.4(TRIM32):c.1720G>T (p.Asp574Tyr) rs886063379 0.00003
NM_012210.4(TRIM32):c.1840G>A (p.Glu614Lys) rs780867714 0.00003
NM_012472.6(DNAAF11):c.408A>G (p.Val136=) rs762081490 0.00003
NM_014714.4(IFT140):c.*23C>T rs752974569 0.00003
NM_014714.4(IFT140):c.*429C>T rs192256907 0.00003
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp) rs554196965 0.00003
NM_014714.4(IFT140):c.2692G>A (p.Val898Met) rs369457143 0.00003
NM_014714.4(IFT140):c.2781G>A (p.Ser927=) rs773225207 0.00003
NM_014714.4(IFT140):c.4148T>C (p.Val1383Ala) rs373499004 0.00003
NM_014714.4(IFT140):c.657G>A (p.Glu219=) rs757028149 0.00003
NM_015102.5(NPHP4):c.1330C>T (p.Arg444Trp) rs375090105 0.00003
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00003
NM_015102.5(NPHP4):c.2246T>C (p.Ile749Thr) rs372250881 0.00003
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg) rs373962831 0.00003
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys) rs770004315 0.00003
NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=) rs377728296 0.00003
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln) rs766202367 0.00003
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093 0.00003
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) rs536037779 0.00003
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117 0.00003
NM_015910.7(WDPCP):c.1575C>T (p.Ser525=) rs375693256 0.00003
NM_015910.7(WDPCP):c.1880G>T (p.Ser627Ile) rs576368237 0.00003
NM_015910.7(WDPCP):c.76-15T>A rs200557033 0.00003
NM_016464.5(TMEM138):c.*264C>G rs886048409 0.00003
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu) rs774141923 0.00003
NM_017777.4(MKS1):c.*381A>G rs886053168 0.00003
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met) rs367625961 0.00003
NM_017777.4(MKS1):c.1408-15A>G rs762989365 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_017950.4(CCDC40):c.*415G>A rs886053539 0.00003
NM_017950.4(CCDC40):c.1440+15C>T rs779133902 0.00003
NM_017950.4(CCDC40):c.1526G>A (p.Arg509His) rs757879326 0.00003
NM_017950.4(CCDC40):c.2038G>C (p.Asp680His) rs765976507 0.00003
NM_017950.4(CCDC40):c.2936G>A (p.Arg979His) rs760027732 0.00003
NM_018139.3(DNAAF2):c.1120G>C (p.Gly374Arg) rs886050527 0.00003
NM_018139.3(DNAAF2):c.1349G>T (p.Ser450Ile) rs185938951 0.00003
NM_018139.3(DNAAF2):c.2381C>T (p.Thr794Met) rs185361306 0.00003
NM_018139.3(DNAAF2):c.2388C>T (p.His796=) rs140997181 0.00003
NM_018718.3(CEP41):c.*2669A>G rs905679390 0.00003
NM_018718.3(CEP41):c.*2849A>G rs1288708394 0.00003
NM_018718.3(CEP41):c.*3040G>A rs566129615 0.00003
NM_018718.3(CEP41):c.*3044A>G rs886061991 0.00003
NM_018718.3(CEP41):c.*333C>T rs886062000 0.00003
NM_018718.3(CEP41):c.*4007C>T rs782719854 0.00003
NM_018718.3(CEP41):c.*578T>C rs782132140 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_018719.5(CDCA7L):c.*942C>T rs192395057 0.00003
NM_019892.6(INPP5E):c.*913T>C rs886063708 0.00003
NM_020779.4(WDR35):c.*1038C>G rs145549829 0.00003
NM_020779.4(WDR35):c.*1218C>T rs990547735 0.00003
NM_020779.4(WDR35):c.*1821A>G rs978221263 0.00003
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) rs573958749 0.00003
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val) rs376284452 0.00003
NM_020779.4(WDR35):c.766G>A (p.Val256Ile) rs745580829 0.00003
NM_020800.3(IFT80):c.*1121T>C rs576160607 0.00003
NM_020800.3(IFT80):c.*937A>T rs545408223 0.00003
NM_020800.3(IFT80):c.370+6T>C rs754136912 0.00003
NM_023036.6(DNAI2):c.*138C>A rs140358589 0.00003
NM_023036.6(DNAI2):c.1683G>A (p.Lys561=) rs767757416 0.00003
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe) rs761389658 0.00003
NM_023036.6(DNAI2):c.864+4C>T rs773061334 0.00003
NM_024649.5(BBS1):c.*1217C>A rs1057306658 0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=) rs781014949 0.00003
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749 0.00003
NM_024685.4(BBS10):c.*1140A>G rs886049842 0.00003
NM_024685.4(BBS10):c.*1204T>A rs886049839 0.00003
NM_024685.4(BBS10):c.*177T>G rs189856910 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) rs368202285 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.3873+10T>A rs779470575 0.00003
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu) rs761111801 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00003
NM_025132.4(WDR19):c.*131C>T rs886059404 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=) rs769329045 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_025132.4(WDR19):c.523-3T>C rs747603843 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_031885.3(BBS2):c.-177C>T rs567188429 0.00003
NM_031885.3(BBS2):c.-178C>T rs548915387 0.00003
NM_031885.5(BBS2):c.-146G>A rs886052153 0.00003
NM_031885.5(BBS2):c.1284C>T (p.His428=) rs757521927 0.00003
NM_031885.5(BBS2):c.1527+12G>A rs376715521 0.00003
NM_031885.5(BBS2):c.58G>A (p.Ala20Thr) rs886052150 0.00003
NM_033028.5(BBS4):c.*149C>A rs578051922 0.00003
NM_033028.5(BBS4):c.*855_*856del rs748809330 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_147127.5(EVC2):c.221G>A (p.Ser74Asn) rs1191013607 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val) rs376048508 0.00003
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn) rs746187559 0.00003
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr) rs747562782 0.00003
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg) rs748417016 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_147127.5(EVC2):c.3757G>A (p.Ala1253Thr) rs745540572 0.00003
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 0.00003
NM_152732.5(RSPH9):c.598A>G (p.Thr200Ala) rs886061478 0.00003
NM_152732.5(RSPH9):c.787G>A (p.Val263Met) rs772227123 0.00003
NM_153240.5(NPHP3):c.*1213T>C rs886057994 0.00003
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281 0.00003
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=) rs372990521 0.00003
NM_153704.6(TMEM67):c.*942G>A rs886063177 0.00003
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738 0.00003
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His) rs191759530 0.00003
NM_153717.3(EVC):c.*104G>A rs753484436 0.00003
NM_153717.3(EVC):c.*1071G>C rs1397822380 0.00003
NM_153717.3(EVC):c.*1981A>G rs886059516 0.00003
NM_153717.3(EVC):c.*542C>T rs1168888994 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly) rs201096775 0.00003
NM_178452.6(DNAAF1):c.1528+4A>G rs544901275 0.00003
NM_178452.6(DNAAF1):c.1994G>A (p.Cys665Tyr) rs769986363 0.00003
NM_181426.2(CCDC39):c.*698A>G rs983645987 0.00003
NM_181426.2(CCDC39):c.821G>A (p.Gly274Glu) rs752180569 0.00003
NM_198428.3(BBS9):c.1236C>T (p.Asn412=) rs139235142 0.00003
NM_198428.3(BBS9):c.1553-11T>C rs756802547 0.00003
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162 0.00003
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu) rs757754301 0.00003
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638 0.00003
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708 0.00003
NM_198525.3(KIF7):c.*147G>T rs142747773 0.00003
NM_198525.3(KIF7):c.1157A>T (p.His386Leu) rs886051537 0.00003
NM_198525.3(KIF7):c.2321T>C (p.Leu774Pro) rs762864604 0.00003
NM_198525.3(KIF7):c.376G>A (p.Glu126Lys) rs886051544 0.00003
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00002
NM_001010892.3(RSPH4A):c.1875A>G (p.Gln625=) rs1248636409 0.00002
NM_001010892.3(RSPH4A):c.1969T>C (p.Tyr657His) rs769766758 0.00002
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His) rs147708058 0.00002
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) rs760296374 0.00002
NM_001082538.3(TCTN1):c.1271T>C (p.Leu424Pro) rs751036661 0.00002
NM_001082538.3(TCTN1):c.1301G>A (p.Gly434Asp) rs747091094 0.00002
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn) rs370252911 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001134831.2(AHI1):c.*1426A>T rs886061101 0.00002
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751 0.00002
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala) rs1380307778 0.00002
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln) rs372888581 0.00002
NM_001173990.3(TMEM216):c.*335G>A rs886048414 0.00002
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001199397.3(NEK1):c.1663A>G (p.Met555Val) rs766596184 0.00002
NM_001199397.3(NEK1):c.2306A>G (p.His769Arg) rs375173827 0.00002
NM_001199397.3(NEK1):c.2765-5T>G rs201755208 0.00002
NM_001199397.3(NEK1):c.3809T>G (p.Ile1270Ser) rs778919560 0.00002
NM_001199397.3(NEK1):c.591T>C (p.Cys197=) rs755160503 0.00002
NM_001258400.2(FAM187A):c.-218G>A rs886053016 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.2226A>G (p.Ile742Met) rs1335609772 0.00002
NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=) rs373969291 0.00002
NM_001277115.2(DNAH11):c.6717A>G (p.Ser2239=) rs373930042 0.00002
NM_001277115.2(DNAH11):c.8972C>T (p.Thr2991Met) rs375595192 0.00002
NM_001277115.2(DNAH11):c.9924+12A>G rs760445518 0.00002
NM_001278293.3(ARL6):c.266C>G (p.Ala89Gly) rs587777805 0.00002
NM_001369.3(DNAH5):c.*100G>A rs527863586 0.00002
NM_001369.3(DNAH5):c.*1298T>A rs917055972 0.00002
NM_001369.3(DNAH5):c.*349G>A rs866931796 0.00002
NM_001369.3(DNAH5):c.1092A>G (p.Leu364=) rs759149687 0.00002
NM_001369.3(DNAH5):c.11616C>G (p.Ile3872Met) rs773699669 0.00002
NM_001369.3(DNAH5):c.12566C>T (p.Ala4189Val) rs138788207 0.00002
NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr) rs766597612 0.00002
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=) rs755271975 0.00002
NM_001369.3(DNAH5):c.1382A>G (p.Gln461Arg) rs886060013 0.00002
NM_001369.3(DNAH5):c.1537-10A>T rs777597757 0.00002
NM_001369.3(DNAH5):c.1870G>A (p.Ala624Thr) rs373727231 0.00002
NM_001369.3(DNAH5):c.2122G>T (p.Val708Leu) rs779509527 0.00002
NM_001369.3(DNAH5):c.3892A>G (p.Lys1298Glu) rs774680760 0.00002
NM_001369.3(DNAH5):c.5817G>A (p.Ala1939=) rs556936569 0.00002
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile) rs578128759 0.00002
NM_001369.3(DNAH5):c.6791G>A (p.Ser2264Asn) rs78484669 0.00002
NM_001369.3(DNAH5):c.6856C>T (p.His2286Tyr) rs201114289 0.00002
NM_001369.3(DNAH5):c.7098G>C (p.Arg2366=) rs768567429 0.00002
NM_001369.3(DNAH5):c.8725C>T (p.Arg2909Cys) rs369744828 0.00002
NM_001369.3(DNAH5):c.967C>T (p.Leu323=) rs746109550 0.00002
NM_001369.3(DNAH5):c.9975C>T (p.Cys3325=) rs771715883 0.00002
NM_001377.3(DYNC2H1):c.11139A>G (p.Leu3713=) rs778092263 0.00002
NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=) rs777253444 0.00002
NM_001377.3(DYNC2H1):c.11679A>C (p.Leu3893Phe) rs748607783 0.00002
NM_001377.3(DYNC2H1):c.11742A>G (p.Gln3914=) rs769560873 0.00002
NM_001377.3(DYNC2H1):c.12703A>T (p.Asn4235Tyr) rs886047580 0.00002
NM_001377.3(DYNC2H1):c.2312A>C (p.Asn771Thr) rs780723018 0.00002
NM_001377.3(DYNC2H1):c.2345+9T>C rs772122634 0.00002
NM_001377.3(DYNC2H1):c.2385C>G (p.Ile795Met) rs780228819 0.00002
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420 0.00002
NM_001377.3(DYNC2H1):c.4561A>G (p.Thr1521Ala) rs756098102 0.00002
NM_001377.3(DYNC2H1):c.4597C>A (p.Leu1533Met) rs184788922 0.00002
NM_001377.3(DYNC2H1):c.4918T>C (p.Cys1640Arg) rs768540376 0.00002
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser) rs370669724 0.00002
NM_001377.3(DYNC2H1):c.7140+8A>G rs768364364 0.00002
NM_001378454.1(ALMS1):c.*111A>G rs200498913 0.00002
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu) rs543650388 0.00002
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp) rs541135799 0.00002
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser) rs745599580 0.00002
NM_001384732.1(CPLANE1):c.3450C>T (p.Phe1150=) rs200449169 0.00002
NM_001384732.1(CPLANE1):c.3595C>T (p.Arg1199Trp) rs374075447 0.00002
NM_001384732.1(CPLANE1):c.4248G>A (p.Val1416=) rs758567108 0.00002
NM_001384732.1(CPLANE1):c.8791A>G (p.Arg2931Gly) rs953624404 0.00002
NM_001384732.1(CPLANE1):c.9574C>G (p.Leu3192Val) rs886060572 0.00002
NM_006642.5(SDCCAG8):c.741-7T>C rs755931555 0.00002
NM_012144.4(DNAI1):c.355C>T (p.Arg119Trp) rs370391949 0.00002
NM_012210.4(TRIM32):c.*530C>T rs192837427 0.00002
NM_012210.4(TRIM32):c.*935A>G rs886063384 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_012210.4(TRIM32):c.978C>T (p.Asp326=) rs759707001 0.00002
NM_014714.3(IFT140):c.-328C>T rs528212874 0.00002
NM_014714.4(IFT140):c.1155+15G>A rs764275810 0.00002
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) rs373106880 0.00002
NM_014714.4(IFT140):c.1944C>T (p.Pro648=) rs763449097 0.00002
NM_014714.4(IFT140):c.2224G>A (p.Glu742Lys) rs1420709766 0.00002
NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr) rs1438111084 0.00002
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=) rs765923171 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014714.4(IFT140):c.3650A>G (p.Asn1217Ser) rs368380437 0.00002
NM_015102.5(NPHP4):c.1929G>A (p.Met643Ile) rs779995407 0.00002
NM_015102.5(NPHP4):c.2347G>A (p.Glu783Lys) rs1349132502 0.00002
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=) rs375485412 0.00002
NM_015102.5(NPHP4):c.6C>T (p.Asn2=) rs371472576 0.00002
NM_015272.5(RPGRIP1L):c.*1206C>T rs1437795784 0.00002
NM_015272.5(RPGRIP1L):c.*822A>G rs554221378 0.00002
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015681.6(B9D1):c.-42C>T rs750522077 0.00002
NM_015910.7(WDPCP):c.*104A>C rs886056222 0.00002
NM_015910.7(WDPCP):c.*559G>A rs1374866370 0.00002
NM_015910.7(WDPCP):c.499+9C>T rs746261282 0.00002
NM_016464.5(TMEM138):c.*548G>A rs1565080891 0.00002
NM_017777.4(MKS1):c.1273+12T>A rs762439479 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys) rs559966703 0.00002
NM_017950.4(CCDC40):c.*663C>T rs886053540 0.00002
NM_017950.4(CCDC40):c.2612C>T (p.Ser871Leu) rs367596393 0.00002
NM_017950.4(CCDC40):c.2967C>T (p.Thr989=) rs199575834 0.00002
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His) rs142135083 0.00002
NM_018139.3(DNAAF2):c.-4C>G rs528847072 0.00002
NM_018139.3(DNAAF2):c.1624C>T (p.Arg542Trp) rs201615253 0.00002
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=) rs529083217 0.00002
NM_018139.3(DNAAF2):c.779G>T (p.Arg260Leu) rs763643131 0.00002
NM_018718.3(CEP41):c.*2605C>T rs886061992 0.00002
NM_018718.3(CEP41):c.*277A>G rs886062001 0.00002
NM_018718.3(CEP41):c.*4417G>A rs886061988 0.00002
NM_018718.3(CEP41):c.*4464T>C rs886061987 0.00002
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165 0.00002
NM_019892.6(INPP5E):c.*213C>T rs544203657 0.00002
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile) rs750331066 0.00002
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407 0.00002
NM_020779.4(WDR35):c.*297A>G rs886891593 0.00002
NM_020779.4(WDR35):c.*305T>C rs1404107870 0.00002
NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala) rs886055405 0.00002
NM_020800.3(IFT80):c.*1110A>G rs981397224 0.00002
NM_020800.3(IFT80):c.*397A>G rs1354614636 0.00002
NM_020800.3(IFT80):c.1069G>A (p.Val357Met) rs530805244 0.00002
NM_020800.3(IFT80):c.371T>C (p.Val124Ala) rs775678547 0.00002
NM_023036.6(DNAI2):c.*19G>A rs757199467 0.00002
NM_023036.6(DNAI2):c.566G>A (p.Arg189Gln) rs552610697 0.00002
NM_024649.5(BBS1):c.*259C>A rs1040142241 0.00002
NM_024649.5(BBS1):c.*950C>T rs1344507018 0.00002
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900 0.00002
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545 0.00002
NM_024685.4(BBS10):c.1164C>T (p.Ser388=) rs1484593364 0.00002
NM_024685.4(BBS10):c.198-10T>C rs376497190 0.00002
NM_024685.4(BBS10):c.559C>A (p.His187Asn) rs753964273 0.00002
NM_024753.5(TTC21B):c.*1107A>G rs1200937712 0.00002
NM_024753.5(TTC21B):c.*593G>A rs886055022 0.00002
NM_024753.5(TTC21B):c.*680C>T rs746664114 0.00002
NM_024753.5(TTC21B):c.*730A>C rs886055021 0.00002
NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys) rs574803644 0.00002
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417 0.00002
NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly) rs1226080375 0.00002
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874 0.00002
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) rs752046733 0.00002
NM_025132.4(WDR19):c.*296T>G rs542204770 0.00002
NM_025132.4(WDR19):c.128G>A (p.Arg43His) rs770312522 0.00002
NM_025132.4(WDR19):c.13+14C>T rs758352852 0.00002
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=) rs761990492 0.00002
NM_025132.4(WDR19):c.3483+11T>C rs766475725 0.00002
NM_025132.4(WDR19):c.822T>C (p.His274=) rs750215526 0.00002
NM_031427.4(DNAL1):c.22_24del (p.Lys8del) rs779309893 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr) rs757737589 0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=) rs886052144 0.00002
NM_031885.5(BBS2):c.86C>T (p.Pro29Leu) rs771211831 0.00002
NM_033028.4(BBS4):c.-44G>C rs886051465 0.00002
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg) rs758120829 0.00002
NM_033028.5(BBS4):c.275C>T (p.Thr92Ile) rs761814377 0.00002
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu) rs200086953 0.00002
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val) rs139195149 0.00002
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) rs199571677 0.00002
NM_144596.4(TTC8):c.799-11C>T rs768485587 0.00002
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129 0.00002
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415 0.00002
NM_147127.5(EVC2):c.2707-9C>G rs772234395 0.00002
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln) rs767317898 0.00002
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp) rs139610006 0.00002
NM_152618.3(BBS12):c.775A>G (p.Thr259Ala) rs746565072 0.00002
NM_152732.5(RSPH9):c.*13C>A rs369595180 0.00002
NM_152732.5(RSPH9):c.798C>T (p.Gly266=) rs770913202 0.00002
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val) rs140594430 0.00002
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) rs777768843 0.00002
NM_153240.5(NPHP3):c.384C>G (p.Ala128=) rs201425936 0.00002
NM_153704.6(TMEM67):c.*822G>A rs1295335321 0.00002
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg) rs142280651 0.00002
NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln) rs754934520 0.00002
NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile) rs781361559 0.00002
NM_153717.3(EVC):c.*2465C>T rs555611922 0.00002
NM_153717.3(EVC):c.*869A>G rs79612644 0.00002
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200 0.00002
NM_170784.3(MKKS):c.1282G>A (p.Asp428Asn) rs779416496 0.00002
NM_176824.3(BBS7):c.-19G>C rs757523715 0.00002
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr) rs758567781 0.00002
NM_178452.6(DNAAF1):c.100G>A (p.Ala34Thr) rs1410955894 0.00002
NM_181426.2(CCDC39):c.*313C>T rs776950305 0.00002
NM_181426.2(CCDC39):c.*478G>A rs886058194 0.00002
NM_181426.2(CCDC39):c.1528-3C>T rs1319606277 0.00002
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr) rs778505224 0.00002
NM_198525.3(KIF7):c.2231G>A (p.Arg744His) rs758730416 0.00002
NM_198525.3(KIF7):c.3835C>T (p.Arg1279Cys) rs749221779 0.00002
NM_001009894.3(RLIG1):c.*611A>G rs2033206514 0.00001
NM_001010892.3(RSPH4A):c.*8A>G rs575857124 0.00001
NM_001010892.3(RSPH4A):c.1111G>A (p.Val371Met) rs1379993014 0.00001
NM_001010892.3(RSPH4A):c.1478C>A (p.Ala493Glu) rs753449428 0.00001
NM_001010892.3(RSPH4A):c.1559G>A (p.Arg520Gln) rs148954304 0.00001
NM_001010892.3(RSPH4A):c.1764G>A (p.Gly588=) rs376516018 0.00001
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter) rs756868889 0.00001
NM_001010892.3(RSPH4A):c.711G>A (p.Leu237=) rs752300778 0.00001
NM_001023570.4(IQCB1):c.*160C>T rs1490063473 0.00001
NM_001023570.4(IQCB1):c.*327T>C rs777172993 0.00001
NM_001023570.4(IQCB1):c.*399A>G rs1466189762 0.00001
NM_001023570.4(IQCB1):c.-179G>A rs1449304531 0.00001
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp) rs760548277 0.00001
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=) rs886057824 0.00001
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=) rs1399676175 0.00001
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly) rs886057826 0.00001
NM_001044385.3(TMEM237):c.*1330C>T rs1016616892 0.00001
NM_001044385.3(TMEM237):c.*1378A>G rs886055443 0.00001
NM_001044385.3(TMEM237):c.*1561G>A rs563393191 0.00001
NM_001044385.3(TMEM237):c.*1603T>G rs886055442 0.00001
NM_001044385.3(TMEM237):c.*1835C>T rs1414626161 0.00001
NM_001044385.3(TMEM237):c.*1965G>A rs947203821 0.00001
NM_001044385.3(TMEM237):c.*2044T>C rs886055440 0.00001
NM_001044385.3(TMEM237):c.*2495C>G rs1459433205 0.00001
NM_001044385.3(TMEM237):c.*3997A>G rs1387630894 0.00001
NM_001044385.3(TMEM237):c.*3C>A rs749132259 0.00001
NM_001044385.3(TMEM237):c.-59G>A rs886055449 0.00001
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=) rs747915597 0.00001
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080 0.00001
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val) rs773512396 0.00001
NM_001080522.2(CC2D2A):c.*144A>C rs920755267 0.00001
NM_001082538.2(TCTN1):c.-84T>C rs886048957 0.00001
NM_001082538.3(TCTN1):c.343G>A (p.Gly115Ser) rs776322884 0.00001
NM_001082538.3(TCTN1):c.344G>A (p.Gly115Asp) rs2065841782 0.00001
NM_001082538.3(TCTN1):c.543A>T (p.Thr181=) rs780200746 0.00001
NM_001082538.3(TCTN1):c.956T>G (p.Leu319Arg) rs762127242 0.00001
NM_001128178.3(NPHP1):c.*322A>G rs886054752 0.00001
NM_001128178.3(NPHP1):c.-17G>A rs566875282 0.00001
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) rs147090619 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00001
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=) rs548684868 0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00001
NM_001134831.2(AHI1):c.*1327C>T rs371457794 0.00001
NM_001134831.2(AHI1):c.*1646T>C rs886061100 0.00001
NM_001134831.2(AHI1):c.*68C>T rs886061108 0.00001
NM_001134831.2(AHI1):c.*80C>T rs536580823 0.00001
NM_001134831.2(AHI1):c.-54G>T rs1162660693 0.00001
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg) rs1264460804 0.00001
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met) rs780336496 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser) rs1380121460 0.00001
NM_001134831.2(AHI1):c.2765-9T>C rs374852342 0.00001
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792 0.00001
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093 0.00001
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792 0.00001
NM_001134831.2(AHI1):c.2962-13G>A rs927158679 0.00001
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=) rs756637497 0.00001
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716 0.00001
NM_001173990.2(TMEM216):c.-242C>T rs756981776 0.00001
NM_001173990.3(TMEM216):c.*377T>C rs1260385076 0.00001
NM_001199397.3(NEK1):c.*1155A>G rs1211514050 0.00001
NM_001199397.3(NEK1):c.*537T>G rs1194523176 0.00001
NM_001199397.3(NEK1):c.*806G>A rs886059223 0.00001
NM_001199397.3(NEK1):c.-441C>T rs886059236 0.00001
NM_001199397.3(NEK1):c.1477G>C (p.Gly493Arg) rs997165654 0.00001
NM_001199397.3(NEK1):c.1625G>A (p.Arg542Gln) rs1032792680 0.00001
NM_001199397.3(NEK1):c.1936G>A (p.Val646Ile) rs202231017 0.00001
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr) rs577165880 0.00001
NM_001199397.3(NEK1):c.2408T>C (p.Leu803Pro) rs1162454954 0.00001
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys) rs543224510 0.00001
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=) rs886059227 0.00001
NM_001199397.3(NEK1):c.3148C>T (p.Pro1050Ser) rs749326267 0.00001
NM_001199397.3(NEK1):c.3222+7A>G rs756853265 0.00001
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=) rs774338352 0.00001
NM_001199397.3(NEK1):c.551+12G>T rs1237824437 0.00001
NM_001199397.3(NEK1):c.896C>T (p.Ser299Leu) rs201587614 0.00001
NM_001243156.2(TAF1C):c.*1084A>G rs886052373 0.00001
NM_001258400.2(FAM187A):c.-229C>A rs940631847 0.00001
NM_001277115.2(DNAH11):c.1035C>T (p.His345=) rs139391790 0.00001
NM_001277115.2(DNAH11):c.10691+2T>C rs886039341 0.00001
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val) rs145735492 0.00001
NM_001277115.2(DNAH11):c.11793C>T (p.Phe3931=) rs774332996 0.00001
NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=) rs545264816 0.00001
NM_001277115.2(DNAH11):c.13091G>A (p.Trp4364Ter) rs1562611868 0.00001
NM_001277115.2(DNAH11):c.1929A>G (p.Gln643=) rs374406494 0.00001
NM_001277115.2(DNAH11):c.1995C>T (p.His665=) rs752831166 0.00001
NM_001277115.2(DNAH11):c.2196A>G (p.Lys732=) rs757207387 0.00001
NM_001277115.2(DNAH11):c.2874A>C (p.Lys958Asn) rs180920616 0.00001
NM_001277115.2(DNAH11):c.3220G>A (p.Glu1074Lys) rs765778415 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.4315A>G (p.Arg1439Gly) rs1035326227 0.00001
NM_001277115.2(DNAH11):c.4491G>A (p.Glu1497=) rs564202359 0.00001
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=) rs72657324 0.00001
NM_001277115.2(DNAH11):c.4790A>G (p.Tyr1597Cys) rs886062176 0.00001
NM_001277115.2(DNAH11):c.5047G>T (p.Glu1683Ter) rs767308949 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.6842C>A (p.Thr2281Asn) rs886062179 0.00001
NM_001277115.2(DNAH11):c.684A>G (p.Ser228=) rs886062171 0.00001
NM_001277115.2(DNAH11):c.6859C>T (p.Arg2287Cys) rs771419966 0.00001
NM_001277115.2(DNAH11):c.6867A>G (p.Ala2289=) rs745494770 0.00001
NM_001277115.2(DNAH11):c.6923C>T (p.Pro2308Leu) rs376475480 0.00001
NM_001277115.2(DNAH11):c.8223A>G (p.Glu2741=) rs371453443 0.00001
NM_001277115.2(DNAH11):c.8515C>T (p.Arg2839Cys) rs770483579 0.00001
NM_001277115.2(DNAH11):c.8534G>A (p.Arg2845Gln) rs372633683 0.00001
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=) rs201934527 0.00001
NM_001277115.2(DNAH11):c.982+12G>A rs546259810 0.00001
NM_001278293.3(ARL6):c.*309T>C rs2038100273 0.00001
NM_001278293.3(ARL6):c.-146T>C rs886058937 0.00001
NM_001278293.3(ARL6):c.306G>A (p.Met102Ile) rs763779778 0.00001
NM_001369.3(DNAH5):c.*883T>C rs1427522956 0.00001
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val) rs751746139 0.00001
NM_001369.3(DNAH5):c.10738G>A (p.Gly3580Ser) rs886059972 0.00001
NM_001369.3(DNAH5):c.11349C>T (p.Val3783=) rs774415631 0.00001
NM_001369.3(DNAH5):c.11463G>A (p.Thr3821=) rs200744540 0.00001
NM_001369.3(DNAH5):c.11529G>A (p.Ser3843=) rs1024441903 0.00001
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160 0.00001
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe) rs200798994 0.00001
NM_001369.3(DNAH5):c.12125G>A (p.Arg4042Gln) rs746715378 0.00001
NM_001369.3(DNAH5):c.12396C>T (p.Thr4132=) rs776715085 0.00001
NM_001369.3(DNAH5):c.12502G>A (p.Val4168Ile) rs747409181 0.00001
NM_001369.3(DNAH5):c.12574C>A (p.His4192Asn) rs748199626 0.00001
NM_001369.3(DNAH5):c.12596G>A (p.Arg4199His) rs375694023 0.00001
NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys) rs762673561 0.00001
NM_001369.3(DNAH5):c.12842T>C (p.Phe4281Ser) rs886059964 0.00001
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala) rs765649176 0.00001
NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu) rs769666008 0.00001
NM_001369.3(DNAH5):c.1305G>A (p.Ala435=) rs766746657 0.00001
NM_001369.3(DNAH5):c.1420G>A (p.Glu474Lys) rs886060012 0.00001
NM_001369.3(DNAH5):c.1728A>C (p.Glu576Asp) rs769083484 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00001
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn) rs141072655 0.00001
NM_001369.3(DNAH5):c.2481C>T (p.Arg827=) rs777353326 0.00001
NM_001369.3(DNAH5):c.2483T>C (p.Ile828Thr) rs769408333 0.00001
NM_001369.3(DNAH5):c.2951G>A (p.Arg984His) rs780758815 0.00001
NM_001369.3(DNAH5):c.2983+5T>C rs1353417066 0.00001
NM_001369.3(DNAH5):c.3084A>G (p.Glu1028=) rs766451124 0.00001
NM_001369.3(DNAH5):c.362T>C (p.Val121Ala) rs752992572 0.00001
NM_001369.3(DNAH5):c.3643G>C (p.Val1215Leu) rs763448297 0.00001
NM_001369.3(DNAH5):c.3769A>G (p.Met1257Val) rs886060007 0.00001
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala) rs761168416 0.00001
NM_001369.3(DNAH5):c.4054-4T>C rs200608915 0.00001
NM_001369.3(DNAH5):c.40G>A (p.Val14Ile) rs1015850611 0.00001
NM_001369.3(DNAH5):c.4116+15T>C rs201947846 0.00001
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His) rs200994058 0.00001
NM_001369.3(DNAH5):c.4855A>G (p.Thr1619Ala) rs80164898 0.00001
NM_001369.3(DNAH5):c.57+14G>T rs756464306 0.00001
NM_001369.3(DNAH5):c.7037T>C (p.Ile2346Thr) rs757623380 0.00001
NM_001369.3(DNAH5):c.7258G>A (p.Glu2420Lys) rs1404921254 0.00001
NM_001369.3(DNAH5):c.7408-14T>C rs1454703878 0.00001
NM_001369.3(DNAH5):c.8005G>T (p.Asp2669Tyr) rs773280167 0.00001
NM_001369.3(DNAH5):c.8016G>A (p.Thr2672=) rs112594597 0.00001
NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln) rs1182948401 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369.3(DNAH5):c.8449-3C>T rs772481411 0.00001
NM_001369.3(DNAH5):c.9347G>A (p.Arg3116Gln) rs745557874 0.00001
NM_001369.3(DNAH5):c.950C>T (p.Ala317Val) rs199691556 0.00001
NM_001369.3(DNAH5):c.9678G>A (p.Ala3226=) rs547729937 0.00001
NM_001377.3(DYNC2H1):c.*270A>G rs913800042 0.00001
NM_001377.3(DYNC2H1):c.*321T>C rs1945677807 0.00001
NM_001377.3(DYNC2H1):c.-33C>T rs547159267 0.00001
NM_001377.3(DYNC2H1):c.1000-7A>G rs745325616 0.00001
NM_001377.3(DYNC2H1):c.10491G>C (p.Glu3497Asp) rs886047575 0.00001
NM_001377.3(DYNC2H1):c.10532A>C (p.Lys3511Thr) rs772570923 0.00001
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=) rs199958495 0.00001
NM_001377.3(DYNC2H1):c.11253C>T (p.His3751=) rs760751244 0.00001
NM_001377.3(DYNC2H1):c.11310T>G (p.Cys3770Trp) rs771899759 0.00001
NM_001377.3(DYNC2H1):c.11416C>T (p.Arg3806Cys) rs754753584 0.00001
NM_001377.3(DYNC2H1):c.11635A>C (p.Asn3879His) rs1396615880 0.00001
NM_001377.3(DYNC2H1):c.11970C>T (p.Asp3990=) rs370818346 0.00001
NM_001377.3(DYNC2H1):c.12495T>C (p.Ser4165=) rs202199079 0.00001
NM_001377.3(DYNC2H1):c.12622C>T (p.Leu4208=) rs752163457 0.00001
NM_001377.3(DYNC2H1):c.12693A>G (p.Gln4231=) rs371640317 0.00001
NM_001377.3(DYNC2H1):c.1320A>C (p.Glu440Asp) rs760475860 0.00001
NM_001377.3(DYNC2H1):c.1506T>C (p.Ile502=) rs754192939 0.00001
NM_001377.3(DYNC2H1):c.2439T>C (p.Phe813=) rs143172984 0.00001
NM_001377.3(DYNC2H1):c.2470A>G (p.Ile824Val) rs758399640 0.00001
NM_001377.3(DYNC2H1):c.2574+9C>T rs777840832 0.00001
NM_001377.3(DYNC2H1):c.2922T>C (p.Ser974=) rs761013187 0.00001
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868 0.00001
NM_001377.3(DYNC2H1):c.3744A>G (p.Lys1248=) rs994362377 0.00001
NM_001377.3(DYNC2H1):c.3920G>A (p.Cys1307Tyr) rs201819231 0.00001
NM_001377.3(DYNC2H1):c.4611+14C>T rs766124250 0.00001
NM_001377.3(DYNC2H1):c.4718A>C (p.Gln1573Pro) rs1455268008 0.00001
NM_001377.3(DYNC2H1):c.4923T>C (p.Cys1641=) rs376188702 0.00001
NM_001377.3(DYNC2H1):c.5335-14A>G rs372488002 0.00001
NM_001377.3(DYNC2H1):c.539T>C (p.Ile180Thr) rs886047559 0.00001
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=) rs886047564 0.00001
NM_001377.3(DYNC2H1):c.5512G>A (p.Ala1838Thr) rs777912444 0.00001
NM_001377.3(DYNC2H1):c.5873A>G (p.Gln1958Arg) rs1301448943 0.00001
NM_001377.3(DYNC2H1):c.6372T>C (p.Ser2124=) rs1386325793 0.00001
NM_001377.3(DYNC2H1):c.6691T>A (p.Tyr2231Asn) rs1410904165 0.00001
NM_001377.3(DYNC2H1):c.6849T>G (p.Thr2283=) rs886047565 0.00001
NM_001377.3(DYNC2H1):c.7031G>A (p.Arg2344His) rs775250788 0.00001
NM_001377.3(DYNC2H1):c.7304G>A (p.Arg2435Lys) rs752086730 0.00001
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=) rs886047566 0.00001
NM_001377.3(DYNC2H1):c.8946+10A>C rs550521675 0.00001
NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=) rs765905797 0.00001
NM_001377.3(DYNC2H1):c.9384G>A (p.Arg3128=) rs930832327 0.00001
NM_001377.3(DYNC2H1):c.9391G>A (p.Glu3131Lys) rs983700534 0.00001
NM_001377.3(DYNC2H1):c.9463G>A (p.Ala3155Thr) rs375920909 0.00001
NM_001377.3(DYNC2H1):c.9577A>G (p.Ile3193Val) rs886047571 0.00001
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys) rs193922693 0.00001
NM_001378615.1(CC2D2A):c.*94T>C rs1296848672 0.00001
NM_001378615.1(CC2D2A):c.1018-11T>C rs200340261 0.00001
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr) rs368669579 0.00001
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142 0.00001
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu) rs759126033 0.00001
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His) rs886059139 0.00001
NM_001378615.1(CC2D2A):c.2486+8A>G rs749186859 0.00001
NM_001378615.1(CC2D2A):c.2487-6T>C rs767335431 0.00001
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe) rs765820512 0.00001
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=) rs886059158 0.00001
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181 0.00001
NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val) rs763775613 0.00001
NM_001378615.1(CC2D2A):c.3398+7A>G rs772784324 0.00001
NM_001378615.1(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184 0.00001
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys) rs371561652 0.00001
NM_001378615.1(CC2D2A):c.4675-12T>G rs769761582 0.00001
NM_001378615.1(CC2D2A):c.4675-14T>A rs766203266 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_001378615.1(CC2D2A):c.880G>C (p.Val294Leu) rs201986486 0.00001
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His) rs113371687 0.00001
NM_001384732.1(CPLANE1):c.*427G>A rs921198091 0.00001
NM_001384732.1(CPLANE1):c.*465G>A rs886060570 0.00001
NM_001384732.1(CPLANE1):c.*471A>T rs1282754215 0.00001
NM_001384732.1(CPLANE1):c.*897C>T rs369092543 0.00001
NM_001384732.1(CPLANE1):c.*94G>T rs886060571 0.00001
NM_001384732.1(CPLANE1):c.-24T>C rs1740201460 0.00001
NM_001384732.1(CPLANE1):c.2207G>A (p.Ser736Asn) rs765826864 0.00001
NM_001384732.1(CPLANE1):c.2325A>T (p.Lys775Asn) rs1313704320 0.00001
NM_001384732.1(CPLANE1):c.2393T>A (p.Met798Lys) rs1485682690 0.00001
NM_001384732.1(CPLANE1):c.2664T>A (p.Asp888Glu) rs1287231108 0.00001
NM_001384732.1(CPLANE1):c.2885A>G (p.His962Arg) rs926554823 0.00001
NM_001384732.1(CPLANE1):c.2933G>A (p.Arg978Gln) rs992985282 0.00001
NM_001384732.1(CPLANE1):c.361T>C (p.Tyr121His) rs886060587 0.00001
NM_001384732.1(CPLANE1):c.4765C>T (p.Leu1589Phe) rs751890710 0.00001
NM_001384732.1(CPLANE1):c.4787T>C (p.Val1596Ala) rs1186525850 0.00001
NM_001384732.1(CPLANE1):c.4948T>C (p.Ser1650Pro) rs536461045 0.00001
NM_001384732.1(CPLANE1):c.5152A>G (p.Ile1718Val) rs886060578 0.00001
NM_001384732.1(CPLANE1):c.5210T>C (p.Leu1737Pro) rs781211084 0.00001
NM_001384732.1(CPLANE1):c.5422-12G>A rs1561517509 0.00001
NM_001384732.1(CPLANE1):c.6700C>T (p.Gln2234Ter) rs1381740657 0.00001
NM_001384732.1(CPLANE1):c.7360G>A (p.Glu2454Lys) rs867750018 0.00001
NM_001384732.1(CPLANE1):c.745G>C (p.Glu249Gln) rs757197770 0.00001
NM_001384732.1(CPLANE1):c.7478G>A (p.Arg2493Gln) rs183942272 0.00001
NM_001384732.1(CPLANE1):c.7588+8T>C rs377295986 0.00001
NM_001384732.1(CPLANE1):c.7914G>A (p.Gln2638=) rs750429337 0.00001
NM_001384732.1(CPLANE1):c.792T>C (p.Asp264=) rs886060585 0.00001
NM_001384732.1(CPLANE1):c.7955A>G (p.His2652Arg) rs373755833 0.00001
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His) rs761880579 0.00001
NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr) rs886060584 0.00001
NM_006642.5(SDCCAG8):c.-106G>T rs886046328 0.00001
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=) rs759125934 0.00001
NM_006642.5(SDCCAG8):c.1517A>G (p.His506Arg) rs745351109 0.00001
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln) rs750265815 0.00001
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317 0.00001
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met) rs1057515530 0.00001
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val) rs372403021 0.00001
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala) rs1003029505 0.00001
NM_012144.4(DNAI1):c.1020-14A>T rs777973486 0.00001
NM_012144.4(DNAI1):c.1489+8C>A rs547508610 0.00001
NM_012144.4(DNAI1):c.1551G>A (p.Glu517=) rs751010917 0.00001
NM_012144.4(DNAI1):c.169T>C (p.Leu57=) rs779175158 0.00001
NM_012144.4(DNAI1):c.1719-11C>T rs774758389 0.00001
NM_012144.4(DNAI1):c.1772C>T (p.Ala591Val) rs751197523 0.00001
NM_012144.4(DNAI1):c.181G>A (p.Glu61Lys) rs1354143118 0.00001
NM_012144.4(DNAI1):c.2029G>A (p.Gly677Ser) rs556105721 0.00001
NM_012144.4(DNAI1):c.203G>A (p.Arg68Gln) rs771320807 0.00001
NM_012144.4(DNAI1):c.2048C>T (p.Ala683Val) rs535760702 0.00001
NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln) rs375547221 0.00001
NM_012144.4(DNAI1):c.385G>A (p.Ala129Thr) rs1403317407 0.00001
NM_012144.4(DNAI1):c.389-15C>T rs886063881 0.00001
NM_012144.4(DNAI1):c.614C>G (p.Pro205Arg) rs752018316 0.00001
NM_012144.4(DNAI1):c.676A>C (p.Asn226His) rs769349211 0.00001
NM_012144.4(DNAI1):c.727A>G (p.Lys243Glu) rs775818668 0.00001
NM_012144.4(DNAI1):c.919G>A (p.Asp307Asn) rs773243879 0.00001
NM_012210.4(TRIM32):c.*112G>A rs886063380 0.00001
NM_012210.4(TRIM32):c.*283G>T rs886063381 0.00001
NM_012210.4(TRIM32):c.*676G>T rs541032542 0.00001
NM_012210.4(TRIM32):c.1306A>G (p.Met436Val) rs746383181 0.00001
NM_012210.4(TRIM32):c.1383C>T (p.Cys461=) rs200244154 0.00001
NM_012210.4(TRIM32):c.1386G>A (p.Val462=) rs762905941 0.00001
NM_012210.4(TRIM32):c.1432T>G (p.Leu478Val) rs371002754 0.00001
NM_012210.4(TRIM32):c.69C>T (p.Cys23=) rs575633576 0.00001
NM_012472.6(DNAAF11):c.1178A>G (p.Lys393Arg) rs776429452 0.00001
NM_012472.6(DNAAF11):c.49G>A (p.Asp17Asn) rs911389891 0.00001
NM_014714.4(IFT140):c.*207C>T rs1192536789 0.00001
NM_014714.4(IFT140):c.-221-6T>A rs886051772 0.00001
NM_014714.4(IFT140):c.-6T>A rs886051771 0.00001
NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys) rs756882000 0.00001
NM_014714.4(IFT140):c.1452G>A (p.Thr484=) rs914258252 0.00001
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile) rs767571875 0.00001
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile) rs1321089981 0.00001
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn) rs138674110 0.00001
NM_014714.4(IFT140):c.1872G>A (p.Thr624=) rs775156902 0.00001
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272 0.00001
NM_014714.4(IFT140):c.2012G>A (p.Arg671His) rs1372026395 0.00001
NM_014714.4(IFT140):c.2261T>C (p.Val754Ala) rs754474621 0.00001
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys) rs143720412 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.3086C>T (p.Ala1029Val) rs757852837 0.00001
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=) rs761692949 0.00001
NM_014714.4(IFT140):c.3403G>A (p.Glu1135Lys) rs774170824 0.00001
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=) rs377319314 0.00001
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=) rs752664070 0.00001
NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln) rs149837281 0.00001
NM_014714.4(IFT140):c.3685G>A (p.Gly1229Arg) rs1203959141 0.00001
NM_014714.4(IFT140):c.36G>A (p.Pro12=) rs574028286 0.00001
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu) rs775044452 0.00001
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=) rs776522454 0.00001
NM_014714.4(IFT140):c.422C>T (p.Thr141Met) rs527332087 0.00001
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=) rs773095902 0.00001
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=) rs200161877 0.00001
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) rs555382397 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_015102.4(NPHP4):c.-225G>A rs886046469 0.00001
NM_015102.4(NPHP4):c.-237G>C rs867788720 0.00001
NM_015102.5(NPHP4):c.*285G>A rs1016860847 0.00001
NM_015102.5(NPHP4):c.*97T>A rs1016911668 0.00001
NM_015102.5(NPHP4):c.-206C>A rs539173372 0.00001
NM_015102.5(NPHP4):c.1047C>T (p.Val349=) rs560597983 0.00001
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=) rs562484051 0.00001
NM_015102.5(NPHP4):c.135+15T>C rs766470480 0.00001
NM_015102.5(NPHP4):c.1397A>G (p.Lys466Arg) rs373787394 0.00001
NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp) rs758253306 0.00001
NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu) rs576761309 0.00001
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197 0.00001
NM_015102.5(NPHP4):c.2304+5C>T rs367651042 0.00001
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln) rs759656675 0.00001
NM_015102.5(NPHP4):c.2701C>T (p.Pro901Ser) rs886046464 0.00001
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile) rs886046463 0.00001
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=) rs762202268 0.00001
NM_015102.5(NPHP4):c.3645-15C>T rs558429618 0.00001
NM_015102.5(NPHP4):c.3688C>G (p.Leu1230Val) rs1226725565 0.00001
NM_015102.5(NPHP4):c.3864C>T (p.Asp1288=) rs886046459 0.00001
NM_015120.4(ALMS1):c.-53C>T rs868088238 0.00001
NM_015272.5(RPGRIP1L):c.*107G>A rs770837632 0.00001
NM_015272.5(RPGRIP1L):c.*1597G>A rs1963334195 0.00001
NM_015272.5(RPGRIP1L):c.*1869A>G rs1224541215 0.00001
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818 0.00001
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840 0.00001
NM_015272.5(RPGRIP1L):c.*53G>A rs1963400312 0.00001
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys) rs755258407 0.00001
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406 0.00001
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp) rs201737322 0.00001
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872 0.00001
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) rs768672275 0.00001
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136 0.00001
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile) rs780672507 0.00001
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177 0.00001
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619 0.00001
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn) rs746806282 0.00001
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg) rs776310931 0.00001
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val) rs1167981125 0.00001
NM_015681.6(B9D1):c.-79C>G rs529182605 0.00001
NM_015681.6(B9D1):c.457G>A (p.Gly153Ser) rs372249324 0.00001
NM_015681.6(B9D1):c.90C>T (p.Cys30=) rs886052685 0.00001
NM_015910.6(WDPCP):c.-301G>A rs886056227 0.00001
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00001
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr) rs534102944 0.00001
NM_015910.7(WDPCP):c.2169G>C (p.Leu723=) rs746225322 0.00001
NM_015910.7(WDPCP):c.255A>G (p.Ser85=) rs1252079324 0.00001
NM_015910.7(WDPCP):c.486C>T (p.Asp162=) rs372538263 0.00001
NM_016464.4(TMEM138):c.-304C>A rs548180077 0.00001
NM_016464.5(TMEM138):c.-17G>A rs757369483 0.00001
NM_016464.5(TMEM138):c.308G>A (p.Arg103His) rs781769843 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_017777.4(MKS1):c.102A>G (p.Thr34=) rs886053171 0.00001
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819 0.00001
NM_017777.4(MKS1):c.1589-3C>T rs752901746 0.00001
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277 0.00001
NM_017777.4(MKS1):c.447C>T (p.Ser149=) rs750376903 0.00001
NM_017950.4(CCDC40):c.*517G>C rs967873995 0.00001
NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys) rs758068198 0.00001
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter) rs371595543 0.00001
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser) rs2289526 0.00001
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln) rs759468416 0.00001
NM_017950.4(CCDC40):c.2070A>C (p.Ala690=) rs758677009 0.00001
NM_017950.4(CCDC40):c.2497A>G (p.Met833Val) rs376911979 0.00001
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln) rs755608579 0.00001
NM_017950.4(CCDC40):c.2832+4A>T rs756602466 0.00001
NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile) rs775788498 0.00001
NM_017950.4(CCDC40):c.3196G>A (p.Val1066Met) rs374932269 0.00001
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304 0.00001
NM_017950.4(CCDC40):c.3365A>C (p.Gln1122Pro) rs778612110 0.00001
NM_017950.4(CCDC40):c.388G>A (p.Asp130Asn) rs758879011 0.00001
NM_017950.4(CCDC40):c.608G>A (p.Arg203His) rs764262876 0.00001
NM_018139.3(DNAAF2):c.*191A>G rs886050525 0.00001
NM_018139.3(DNAAF2):c.*290_*294del rs886050524 0.00001
NM_018139.3(DNAAF2):c.1070C>T (p.Pro357Leu) rs1389972313 0.00001
NM_018139.3(DNAAF2):c.1147G>A (p.Ala383Thr) rs1176186096 0.00001
NM_018139.3(DNAAF2):c.1215T>G (p.Ala405=) rs886050526 0.00001
NM_018139.3(DNAAF2):c.1825A>G (p.Arg609Gly) rs768172147 0.00001
NM_018139.3(DNAAF2):c.196G>A (p.Glu66Lys) rs779375480 0.00001
NM_018139.3(DNAAF2):c.2053A>G (p.Arg685Gly) rs753870133 0.00001
NM_018139.3(DNAAF2):c.20C>T (p.Ser7Phe) rs577796590 0.00001
NM_018139.3(DNAAF2):c.471C>T (p.His157=) rs886050528 0.00001
NM_018139.3(DNAAF2):c.616C>A (p.Pro206Thr) rs781591271 0.00001
NM_018718.3(CEP41):c.*1205G>T rs1554415397 0.00001
NM_018718.3(CEP41):c.*1766T>C rs1211217706 0.00001
NM_018718.3(CEP41):c.*2159C>T rs886061995 0.00001
NM_018718.3(CEP41):c.*2709G>A rs1342689782 0.00001
NM_018718.3(CEP41):c.*4505G>T rs1554413676 0.00001
NM_018718.3(CEP41):c.*4994T>C rs527933839 0.00001
NM_018718.3(CEP41):c.*55G>A rs782471506 0.00001
NM_018718.3(CEP41):c.*832A>C rs1554415585 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) rs111688621 0.00001
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004 0.00001
NM_019892.6(INPP5E):c.*721C>T rs886063710 0.00001
NM_019892.6(INPP5E):c.-41C>T rs1170873095 0.00001
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg) rs768384414 0.00001
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=) rs780119172 0.00001
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=) rs760729838 0.00001
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser) rs754964359 0.00001
NM_020779.4(WDR35):c.*2228C>T rs1669828408 0.00001
NM_020779.4(WDR35):c.*2725G>T rs886055396 0.00001
NM_020779.4(WDR35):c.*2726A>G rs886055395 0.00001
NM_020779.4(WDR35):c.*2748G>T rs886055394 0.00001
NM_020779.4(WDR35):c.*380G>A rs886055401 0.00001
NM_020779.4(WDR35):c.*747C>T rs1451842817 0.00001
NM_020779.4(WDR35):c.1348A>C (p.Thr450Pro) rs771656961 0.00001
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser) rs139252416 0.00001
NM_020779.4(WDR35):c.2165G>A (p.Arg722His) rs758991146 0.00001
NM_020779.4(WDR35):c.2194A>C (p.Lys732Gln) rs748476979 0.00001
NM_020779.4(WDR35):c.2220C>T (p.Phe740=) rs535522970 0.00001
NM_020779.4(WDR35):c.2267+9T>C rs376307803 0.00001
NM_020779.4(WDR35):c.2268-11T>G rs745664606 0.00001
NM_020779.4(WDR35):c.2298G>A (p.Leu766=) rs1287745296 0.00001
NM_020779.4(WDR35):c.847G>A (p.Val283Met) rs576085633 0.00001
NM_020779.4(WDR35):c.976A>G (p.Ile326Val) rs1438742194 0.00001
NM_020800.3(IFT80):c.*102C>A rs529617151 0.00001
NM_020800.3(IFT80):c.*104G>A rs886058128 0.00001
NM_020800.3(IFT80):c.*1365C>G rs1178230972 0.00001
NM_020800.3(IFT80):c.*551A>G rs886058126 0.00001
NM_020800.3(IFT80):c.*659C>G rs560527597 0.00001
NM_020800.3(IFT80):c.*740G>T rs1012212219 0.00001
NM_020800.3(IFT80):c.*792T>G rs547025505 0.00001
NM_020800.3(IFT80):c.*797A>C rs527576092 0.00001
NM_020800.3(IFT80):c.1053G>A (p.Thr351=) rs746236656 0.00001
NM_020800.3(IFT80):c.1151+13G>A rs766432950 0.00001
NM_020800.3(IFT80):c.1326C>T (p.Leu442=) rs886058131 0.00001
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) rs554335278 0.00001
NM_020800.3(IFT80):c.38-1C>G rs779785603 0.00001
NM_020800.3(IFT80):c.44A>G (p.Glu15Gly) rs886058134 0.00001
NM_020800.3(IFT80):c.639+5A>G rs527856744 0.00001
NM_020800.3(IFT80):c.957+15C>T rs774479207 0.00001
NM_023036.6(DNAI2):c.-22G>A rs551715321 0.00001
NM_023036.6(DNAI2):c.110T>C (p.Leu37Pro) rs2051413297 0.00001
NM_023036.6(DNAI2):c.1602T>C (p.Asp534=) rs376541043 0.00001
NM_023036.6(DNAI2):c.318C>T (p.Tyr106=) rs764812763 0.00001
NM_023036.6(DNAI2):c.725-2A>C rs1448501611 0.00001
NM_024649.5(BBS1):c.*1088G>A rs886048531 0.00001
NM_024649.5(BBS1):c.*10T>A rs765633556 0.00001
NM_024649.5(BBS1):c.*1274A>G rs192684991 0.00001
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu) rs374356964 0.00001
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala) rs765829383 0.00001
NM_024649.5(BBS1):c.1383A>G (p.Leu461=) rs557739576 0.00001
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp) rs544767888 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_024649.5(BBS1):c.441C>T (p.Ile147=) rs544997496 0.00001
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657 0.00001
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala) rs748946143 0.00001
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681 0.00001
NM_024649.5(BBS1):c.803G>A (p.Arg268His) rs375949076 0.00001
NM_024649.5(BBS1):c.867C>T (p.Ser289=) rs776322401 0.00001
NM_024685.3(BBS10):c.-66C>T rs886049854 0.00001
NM_024685.4(BBS10):c.*1041G>T rs1184051032 0.00001
NM_024685.4(BBS10):c.*1113G>C rs1432385652 0.00001
NM_024685.4(BBS10):c.*119G>A rs886049846 0.00001
NM_024685.4(BBS10):c.*264A>T rs556444502 0.00001
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val) rs1460652135 0.00001
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn) rs750994616 0.00001
NM_024685.4(BBS10):c.1893G>C (p.Met631Ile) rs144428139 0.00001
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=) rs376613074 0.00001
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732 0.00001
NM_024685.4(BBS10):c.1992A>G (p.Ala664=) rs758730453 0.00001
NM_024685.4(BBS10):c.270T>G (p.Leu90=) rs200390697 0.00001
NM_024685.4(BBS10):c.393G>A (p.Gln131=) rs369066076 0.00001
NM_024753.5(TTC21B):c.*1104G>A rs1001278499 0.00001
NM_024753.5(TTC21B):c.*642C>T rs547612425 0.00001
NM_024753.5(TTC21B):c.-16C>G rs886055030 0.00001
NM_024753.5(TTC21B):c.-64G>A rs886055031 0.00001
NM_024753.5(TTC21B):c.1432A>T (p.Ile478Phe) rs948455096 0.00001
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825 0.00001
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) rs377128320 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His) rs773555238 0.00001
NM_024753.5(TTC21B):c.3101+9A>G rs764331829 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=) rs767037992 0.00001
NM_024753.5(TTC21B):c.3500A>G (p.Tyr1167Cys) rs1040877016 0.00001
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) rs568969576 0.00001
NM_024809.5(TCTN2):c.*559C>T rs1427290366 0.00001
NM_024809.5(TCTN2):c.-15C>T rs575728856 0.00001
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682 0.00001
NM_024809.5(TCTN2):c.1393+15T>C rs541103051 0.00001
NM_024809.5(TCTN2):c.1394-6T>C rs774357206 0.00001
NM_024809.5(TCTN2):c.1872A>G (p.Ala624=) rs765238420 0.00001
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys) rs757725319 0.00001
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140 0.00001
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His) rs770325331 0.00001
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642 0.00001
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu) rs759754931 0.00001
NM_025114.4(CEP290):c.-203C>A rs961052158 0.00001
NM_025114.4(CEP290):c.-38G>C rs886049886 0.00001
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.274A>G (p.Met92Val) rs951351175 0.00001
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly) rs886049882 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=) rs1159465602 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr) rs769886105 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1932G>A (p.Thr644=) rs886059398 0.00001
NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr) rs1024499799 0.00001
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser) rs759424617 0.00001
NM_025132.4(WDR19):c.935T>C (p.Ile312Thr) rs886059396 0.00001
NM_031885.3(BBS2):c.-199A>T rs569642995 0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_031885.5(BBS2):c.1226-11C>T rs371851180 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.1486A>G (p.Ile496Val) rs549070573 0.00001
NM_031885.5(BBS2):c.1662C>G (p.Ile554Met) rs774112668 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.408G>A (p.Ala136=) rs771554929 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_031885.5(BBS2):c.603A>C (p.Thr201=) rs768647514 0.00001
NM_031885.5(BBS2):c.78G>A (p.Gly26=) rs759629466 0.00001
NM_033028.5(BBS4):c.*522A>G rs531501103 0.00001
NM_033028.5(BBS4):c.*581T>A rs936319236 0.00001
NM_033028.5(BBS4):c.*643A>C rs886051469 0.00001
NM_033028.5(BBS4):c.1029C>T (p.Leu343=) rs1000977139 0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770 0.00001
NM_033028.5(BBS4):c.1179C>T (p.Ala393=) rs780560947 0.00001
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala) rs775122250 0.00001
NM_033028.5(BBS4):c.1512G>A (p.Ala504=) rs369958857 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_033028.5(BBS4):c.63C>T (p.Pro21=) rs267604309 0.00001
NM_033028.5(BBS4):c.684A>C (p.Ala228=) rs35132058 0.00001
NM_144596.4(TTC8):c.275C>T (p.Thr92Met) rs886050877 0.00001
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr) rs1295139564 0.00001
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala) rs1220094479 0.00001
NM_147127.5(EVC2):c.*68T>C rs886059470 0.00001
NM_147127.5(EVC2):c.1346G>A (p.Arg449Gln) rs774976776 0.00001
NM_147127.5(EVC2):c.1702A>G (p.Lys568Glu) rs769178878 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys) rs779884599 0.00001
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562 0.00001
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901 0.00001
NM_147127.5(EVC2):c.451-15T>C rs554022197 0.00001
NM_147127.5(EVC2):c.706+13C>T rs371526145 0.00001
NM_147127.5(EVC2):c.737C>G (p.Ala246Gly) rs765973029 0.00001
NM_152618.3(BBS12):c.1118A>G (p.Asn373Ser) rs765821625 0.00001
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266 0.00001
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059 0.00001
NM_152618.3(BBS12):c.2016G>A (p.Ala672=) rs186713451 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_153240.5(NPHP3):c.*1098C>T rs886057995 0.00001
NM_153240.5(NPHP3):c.*139T>G rs886058001 0.00001
NM_153240.5(NPHP3):c.*351A>T rs992880401 0.00001
NM_153240.5(NPHP3):c.*692C>T rs886057997 0.00001
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys) rs1939564898 0.00001
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675 0.00001
NM_153240.5(NPHP3):c.2571-12C>G rs886058003 0.00001
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg) rs772079066 0.00001
NM_153240.5(NPHP3):c.3697-7T>A rs777908405 0.00001
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala) rs766281273 0.00001
NM_153704.6(TMEM67):c.*179T>C rs886063174 0.00001
NM_153704.6(TMEM67):c.*761T>G rs553442637 0.00001
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) rs774701716 0.00001
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln) rs769827614 0.00001
NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln) rs1166437802 0.00001
NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser) rs1461948623 0.00001
NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile) rs886063173 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 0.00001
NM_153717.3(EVC):c.*1008G>A rs1217574266 0.00001
NM_153717.3(EVC):c.*1374G>C rs549720489 0.00001
NM_153717.3(EVC):c.*1446A>G rs754781931 0.00001
NM_153717.3(EVC):c.*1684A>G rs886059515 0.00001
NM_153717.3(EVC):c.*2686G>A rs545215581 0.00001
NM_153717.3(EVC):c.*2922A>C rs886059518 0.00001
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070 0.00001
NM_153717.3(EVC):c.1821C>G (p.His607Gln) rs779056864 0.00001
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004 0.00001
NM_153717.3(EVC):c.1942A>G (p.Arg648Gly) rs1418345759 0.00001
NM_153717.3(EVC):c.1994C>T (p.Ser665Leu) rs375340438 0.00001
NM_153717.3(EVC):c.2305-5C>G rs760071065 0.00001
NM_153717.3(EVC):c.2522C>T (p.Ala841Val) rs1378303023 0.00001
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749 0.00001
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311 0.00001
NM_153717.3(EVC):c.388C>T (p.Leu130=) rs886059496 0.00001
NM_153717.3(EVC):c.581G>A (p.Arg194Gln) rs777256784 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.86C>T (p.Ala29Val) rs1314509668 0.00001
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys) rs1252316234 0.00001
NM_170784.3(MKKS):c.*103A>G rs965771888 0.00001
NM_170784.3(MKKS):c.-22A>C rs531656259 0.00001
NM_170784.3(MKKS):c.-388A>G rs945662294 0.00001
NM_170784.3(MKKS):c.-481T>A rs886056502 0.00001
NM_170784.3(MKKS):c.-562C>T rs886056503 0.00001
NM_170784.3(MKKS):c.-649+2366C>T rs886056504 0.00001
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr) rs1401483166 0.00001
NM_170784.3(MKKS):c.1269C>T (p.His423=) rs144313303 0.00001
NM_170784.3(MKKS):c.1645C>T (p.Leu549=) rs1010755325 0.00001
NM_176824.3(BBS7):c.*1361A>T rs544492413 0.00001
NM_176824.3(BBS7):c.*996T>C rs886059049 0.00001
NM_176824.3(BBS7):c.-137A>G rs1727529496 0.00001
NM_176824.3(BBS7):c.1306-5C>T rs1475632900 0.00001
NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys) rs776931328 0.00001
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr) rs886059053 0.00001
NM_176824.3(BBS7):c.651G>A (p.Ala217=) rs750691939 0.00001
NM_178452.6(DNAAF1):c.1098C>T (p.Pro366=) rs1014231886 0.00001
NM_178452.6(DNAAF1):c.1400C>A (p.Thr467Asn) rs753030611 0.00001
NM_178452.6(DNAAF1):c.149G>A (p.Cys50Tyr) rs747363759 0.00001
NM_178452.6(DNAAF1):c.1747A>G (p.Ser583Gly) rs750500335 0.00001
NM_178452.6(DNAAF1):c.1847C>T (p.Ala616Val) rs374900685 0.00001
NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=) rs772036783 0.00001
NM_178452.6(DNAAF1):c.842G>T (p.Arg281Ile) rs754950357 0.00001
NM_178452.6(DNAAF1):c.997G>A (p.Glu333Lys) rs1259556318 0.00001
NM_181426.1(CCDC39):c.-110C>T rs886058201 0.00001
NM_181426.2(CCDC39):c.*157T>C rs886058196 0.00001
NM_181426.2(CCDC39):c.*405A>G rs1027319344 0.00001
NM_181426.2(CCDC39):c.*753G>A rs540779727 0.00001
NM_181426.2(CCDC39):c.1102A>G (p.Met368Val) rs564446820 0.00001
NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=) rs376782159 0.00001
NM_181426.2(CCDC39):c.2101G>A (p.Val701Met) rs373567562 0.00001
NM_181426.2(CCDC39):c.2823A>G (p.Lys941=) rs751844801 0.00001
NM_181426.2(CCDC39):c.551A>C (p.Glu184Ala) rs752974826 0.00001
NM_181426.2(CCDC39):c.863G>A (p.Arg288His) rs576805965 0.00001
NM_198428.3(BBS9):c.*12T>C rs770978235 0.00001
NM_198428.3(BBS9):c.*585C>T rs1273092896 0.00001
NM_198428.3(BBS9):c.*801G>A rs1216449046 0.00001
NM_198428.3(BBS9):c.-163G>C rs886062281 0.00001
NM_198428.3(BBS9):c.-271G>A rs886062280 0.00001
NM_198428.3(BBS9):c.1210A>G (p.Met404Val) rs779666112 0.00001
NM_198428.3(BBS9):c.1329+5T>C rs200033003 0.00001
NM_198428.3(BBS9):c.1537+14C>T rs754694089 0.00001
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala) rs1310602174 0.00001
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu) rs771777721 0.00001
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys) rs746543061 0.00001
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072 0.00001
NM_198428.3(BBS9):c.272A>T (p.Glu91Val) rs886062283 0.00001
NM_198428.3(BBS9):c.938A>G (p.His313Arg) rs533714503 0.00001
NM_198525.3(KIF7):c.1218C>G (p.Gly406=) rs886051536 0.00001
NM_198525.3(KIF7):c.1894C>G (p.Pro632Ala) rs1254624184 0.00001
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_198525.3(KIF7):c.2132G>A (p.Arg711Gln) rs368873919 0.00001
NM_198525.3(KIF7):c.218C>T (p.Ala73Val) rs552362795 0.00001
NM_198525.3(KIF7):c.2216G>A (p.Arg739His) rs943930875 0.00001
NM_198525.3(KIF7):c.2571C>G (p.Ser857Arg) rs764572782 0.00001
NM_198525.3(KIF7):c.3112-10G>A rs370548253 0.00001
NM_198525.3(KIF7):c.3477G>A (p.Glu1159=) rs886192389 0.00001
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=) rs370333561 0.00001
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=) rs886051529 0.00001
NM_198525.3(KIF7):c.619G>A (p.Ala207Thr) rs886051542 0.00001
NM_198525.3(KIF7):c.623C>T (p.Thr208Met) rs886051541 0.00001
NM_198525.3(KIF7):c.643A>G (p.Ser215Gly) rs886051540 0.00001
NM_198525.3(KIF7):c.719C>T (p.Pro240Leu) rs886051539 0.00001
NM_213607.3(CCDC103):c.*19G>C rs1394506445 0.00001
NM_213607.3(CCDC103):c.-11G>A rs886053013 0.00001
NM_213607.3(CCDC103):c.-135C>T rs778315117 0.00001
NM_213607.3(CCDC103):c.-16C>T rs2051488704 0.00001
NM_213607.3(CCDC103):c.348G>C (p.Gly116=) rs575078578 0.00001
NM_213607.3(CCDC103):c.513G>A (p.Ala171=) rs557822238 0.00001
NM_213607.3(CCDC103):c.554G>A (p.Arg185Gln) rs182319938 0.00001
NM_213607.3(CCDC103):c.671G>C (p.Gly224Ala) rs771395013 0.00001
NM_213607.3(CCDC103):c.72G>A (p.Glu24=) rs752532336 0.00001
NM_213607.3(CCDC103):c.8G>A (p.Arg3Lys) rs886053014 0.00001
NM_000152.5(GAA):c.-325C>T rs1402918119
NM_000152.5(GAA):c.-75C>G rs80020206
NM_001006657.1(WDR35):c.*3299C>T rs1669790644
NM_001009894.3(RLIG1):c.*618TATT[1] rs886049876
NM_001009894.3(RLIG1):c.*743_*746del rs142288119
NM_001010892.3(RSPH4A):c.*223A>T rs1775827195
NM_001010892.3(RSPH4A):c.*224C>T rs886060996
NM_001010892.3(RSPH4A):c.*38AC[6] rs149281216
NM_001010892.3(RSPH4A):c.*500G>A rs886060997
NM_001010892.3(RSPH4A):c.-16_-12delinsCACGCCCCTTTCATCCA rs727504884
NM_001010892.3(RSPH4A):c.-50T>C rs1775505157
NM_001010892.3(RSPH4A):c.1377G>A (p.Lys459=) rs563352149
NM_001010892.3(RSPH4A):c.1514T>C (p.Phe505Ser) rs565491418
NM_001010892.3(RSPH4A):c.1843C>G (p.Leu615Val) rs886060994
NM_001010892.3(RSPH4A):c.198A>G (p.Arg66=) rs1775511668
NM_001010892.3(RSPH4A):c.2081A>G (p.Glu694Gly) rs1483719333
NM_001010892.3(RSPH4A):c.586G>A (p.Ala196Thr) rs1436446801
NM_001023570.4(IQCB1):c.*197G>C rs1135750
NM_001023570.4(IQCB1):c.*226T>C rs886057822
NM_001023570.4(IQCB1):c.-147_-142del rs72421117
NM_001023570.4(IQCB1):c.-154T>G rs886057830
NM_001023570.4(IQCB1):c.-185C>G rs553719849
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met) rs886057825
NM_001023570.4(IQCB1):c.1278+7C>T rs112780863
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile) rs886057823
NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu) rs200719828
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr) rs1950530790
NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr) rs199775360
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter) rs1372460709
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.488-13dup rs753164790
NM_001023570.4(IQCB1):c.722A>G (p.His241Arg) rs886057827
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro) rs1949231887
NM_001044385.2(TMEM237):c.-126G>A rs572770188
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1436G>T rs528180812
NM_001044385.3(TMEM237):c.*1606T>C rs1000633418
NM_001044385.3(TMEM237):c.*1879G>A rs1301264448
NM_001044385.3(TMEM237):c.*1890G>A rs191383267
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.*2307A>G rs1957712077
NM_001044385.3(TMEM237):c.*2448C>A rs1234909902
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*2626T>C rs1957709069
NM_001044385.3(TMEM237):c.*2652A>G rs1957708713
NM_001044385.3(TMEM237):c.*2670C>T rs1559581980
NM_001044385.3(TMEM237):c.*2682G>C rs886055438
NM_001044385.3(TMEM237):c.*283A>C rs886055446
NM_001044385.3(TMEM237):c.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*303C>T rs1957734276
NM_001044385.3(TMEM237):c.*3350A>T rs561312621
NM_001044385.3(TMEM237):c.*3513del rs143218667
NM_001044385.3(TMEM237):c.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*470_*473del rs886055445
NM_001044385.3(TMEM237):c.*62A>G rs1957736360
NM_001044385.3(TMEM237):c.*663G>C rs940503609
NM_001044385.3(TMEM237):c.*781G>A rs1957729006
NM_001044385.3(TMEM237):c.*895C>G rs1957727656
NM_001044385.3(TMEM237):c.*940A>C rs1957727275
NM_001044385.3(TMEM237):c.-25G>A rs568671275
NM_001044385.3(TMEM237):c.-67T>G rs886055450
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe) rs1687306098
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=) rs1957812548
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001082538.3(TCTN1):c.1170T>A (p.Ala390=) rs903743304
NM_001082538.3(TCTN1):c.1418del (p.Pro473fs) rs757348545
NM_001082538.3(TCTN1):c.1685T>C (p.Phe562Ser) rs1277761197
NM_001082538.3(TCTN1):c.364C>A (p.Gln122Lys) rs886048958
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001082538.3(TCTN1):c.794C>G (p.Ala265Gly) rs1457836773
NM_001082538.3(TCTN1):c.802A>G (p.Ser268Gly) rs771495390
NM_001128178.3(NPHP1):c.*199A>G rs1679131109
NM_001128178.3(NPHP1):c.*333AAC[1] rs555468187
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln) rs886054753
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) rs1679799639
NM_001128178.3(NPHP1):c.1717-5T>G rs1679303713
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) rs538690900
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=) rs977347524
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) rs1408606648
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_001128178.3(NPHP1):c.771+148G>T rs753796140
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg) rs886054754
NM_001134831.2(AHI1):c.*1051ATTT[1] rs144339517
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1116TAT[1] rs886061104
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1568A>T rs969919726
NM_001134831.2(AHI1):c.*216G>A rs1781565852
NM_001134831.2(AHI1):c.*246T>C rs1781561968
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.*484G>A rs1045439496
NM_001134831.2(AHI1):c.*500_*504del rs886061105
NM_001134831.2(AHI1):c.*981C>T rs376956056
NM_001134831.2(AHI1):c.-332C>G rs944668049
NM_001134831.2(AHI1):c.-53A>G rs1461027288
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.1780-3T>C rs1786509189
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1912+15T>G rs1786478454
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=) rs1785751637
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys) rs958113326
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=) rs1583193331
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser) rs199736888
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys) rs755780260
NM_001134831.2(AHI1):c.3109+14T>A rs1778988078
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg) rs750115460
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.459A>C (p.Thr153=) rs531024131
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001173990.2(TMEM216):c.-128A>C rs886048411
NM_001173990.2(TMEM216):c.-285A>G rs139151563
NM_001173990.3(TMEM216):c.*190A>G rs1858851501
NM_001173990.3(TMEM216):c.*247C>T rs886048413
NM_001173990.3(TMEM216):c.*393C>T rs1858858010
NM_001173990.3(TMEM216):c.*548T>A rs1858863107
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001174150.2(ARL13B):c.*1818ATATA[1] rs752990716
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001199397.3(NEK1):c.*354A>T rs1730320778
NM_001199397.3(NEK1):c.*758T>A rs1730272463
NM_001199397.3(NEK1):c.-128C>T rs1484285578
NM_001199397.3(NEK1):c.-275A>G rs546452146
NM_001199397.3(NEK1):c.1233T>C (p.Asn411=) rs886059234
NM_001199397.3(NEK1):c.1451G>A (p.Arg484His) rs201793759
NM_001199397.3(NEK1):c.1476A>C (p.Ala492=) rs1322917520
NM_001199397.3(NEK1):c.1847A>G (p.His616Arg) rs886059233
NM_001199397.3(NEK1):c.1961A>T (p.Lys654Met) rs767789905
NM_001199397.3(NEK1):c.2096G>A (p.Arg699Lys) rs558787593
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp) rs201726561
NM_001199397.3(NEK1):c.2282_2283del (p.Leu760_Ser761insTer) rs750159428
NM_001199397.3(NEK1):c.238A>G (p.Met80Val) rs1770058884
NM_001199397.3(NEK1):c.2435-4A>G rs886059230
NM_001199397.3(NEK1):c.2974+11T>C rs886059229
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=) rs190807750
NM_001199397.3(NEK1):c.3222+15C>A rs1246103461
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile) rs374890006
NM_001199397.3(NEK1):c.3374+14C>T rs886059226
NM_001199397.3(NEK1):c.3451G>A (p.Glu1151Lys) rs1064796596
NM_001199397.3(NEK1):c.671C>T (p.Ser224Phe) rs886059235
NM_001199397.3(NEK1):c.901T>C (p.Ser301Pro) rs777255986
NM_001243156.2(TAF1C):c.*1055_*1058del rs771825223
NM_001256715.2(DNAAF3):c.1585del (p.Ala529fs) rs1371933770
NM_001258400.2(FAM187A):c.-192G>A rs886053017
NM_001258400.2(FAM187A):c.-224C>A rs144369192
NM_001258400.2(FAM187A):c.-224C>T rs144369192
NM_001258400.2(FAM187A):c.-226C>T rs886053015
NM_001277115.2(DNAH11):c.10523A>G (p.Asn3508Ser) rs1562563761
NM_001277115.2(DNAH11):c.10573T>C (p.Leu3525=) rs886062182
NM_001277115.2(DNAH11):c.10701G>T (p.Arg3567Ser) rs375965591
NM_001277115.2(DNAH11):c.10750C>T (p.His3584Tyr) rs886062183
NM_001277115.2(DNAH11):c.10773C>G (p.His3591Gln)
NM_001277115.2(DNAH11):c.11202+7C>A rs73279826
NM_001277115.2(DNAH11):c.11203-9A>G rs1783074282
NM_001277115.2(DNAH11):c.11220C>G (p.Phe3740Leu) rs886062184
NM_001277115.2(DNAH11):c.11483G>T (p.Trp3828Leu) rs1783201954
NM_001277115.2(DNAH11):c.11508C>G (p.Val3836=) rs199627577
NM_001277115.2(DNAH11):c.11534G>A (p.Arg3845Gln) rs371438607
NM_001277115.2(DNAH11):c.11725G>A (p.Val3909Met) rs886062185
NM_001277115.2(DNAH11):c.11786T>C (p.Ile3929Thr) rs886062186
NM_001277115.2(DNAH11):c.12336C>G (p.Asp4112Glu) rs779489580
NM_001277115.2(DNAH11):c.1233A>G (p.Gly411=) rs886062172
NM_001277115.2(DNAH11):c.12375G>C (p.Glu4125Asp) rs886062187
NM_001277115.2(DNAH11):c.12388-4A>G rs758561213
NM_001277115.2(DNAH11):c.12505C>T (p.Leu4169=) rs764262245
NM_001277115.2(DNAH11):c.12509C>G (p.Thr4170Ser) rs12537531
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile) rs12537531
NM_001277115.2(DNAH11):c.12549A>C (p.Pro4183=) rs886062188
NM_001277115.2(DNAH11):c.12933+1G>A rs371022970
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=) rs56333627
NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=) rs79449551
NM_001277115.2(DNAH11):c.13303G>T (p.Gly4435Cys) rs1044815255
NM_001277115.2(DNAH11):c.13536_13548dup (p.Ter4517AlaextTer?) rs764221599
NM_001277115.2(DNAH11):c.1535T>C (p.Met512Thr) rs72655984
NM_001277115.2(DNAH11):c.180C>T (p.Arg60=) rs781089233
NM_001277115.2(DNAH11):c.1978T>C (p.Leu660=) rs771896570
NM_001277115.2(DNAH11):c.2169+6G>T rs761214072
NM_001277115.2(DNAH11):c.2237C>T (p.Ala746Val) rs934985831
NM_001277115.2(DNAH11):c.2388G>A (p.Leu796=) rs771017427
NM_001277115.2(DNAH11):c.2412A>G (p.Thr804=) rs564401238
NM_001277115.2(DNAH11):c.2658C>G (p.Asn886Lys) rs886062173
NM_001277115.2(DNAH11):c.2932T>C (p.Cys978Arg) rs886062174
NM_001277115.2(DNAH11):c.3808C>G (p.Pro1270Ala) rs886062175
NM_001277115.2(DNAH11):c.395A>G (p.Lys132Arg) rs374076948
NM_001277115.2(DNAH11):c.447A>G (p.Gly149=) rs886062170
NM_001277115.2(DNAH11):c.480T>G (p.Ser160=) rs1013003178
NM_001277115.2(DNAH11):c.4825C>T (p.Leu1609Phe) rs886062177
NM_001277115.2(DNAH11):c.496-10C>G rs1783322493
NM_001277115.2(DNAH11):c.5157A>G (p.Thr1719=) rs149538783
NM_001277115.2(DNAH11):c.5186C>A (p.Pro1729His) rs778885238
NM_001277115.2(DNAH11):c.5327A>T (p.Gln1776Leu) rs886062178
NM_001277115.2(DNAH11):c.5594G>T (p.Arg1865Leu) rs749869317
NM_001277115.2(DNAH11):c.5984T>C (p.Met1995Thr) rs1465555535
NM_001277115.2(DNAH11):c.6273+9A>G rs192777767
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=) rs200894470
NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter) rs773498002
NM_001277115.2(DNAH11):c.6897G>C (p.Glu2299Asp) rs886062180
NM_001277115.2(DNAH11):c.693-14C>G rs574585676
NM_001277115.2(DNAH11):c.6999G>T (p.Trp2333Cys) rs1189902593
NM_001277115.2(DNAH11):c.7068A>C (p.Ala2356=) rs773805632
NM_001277115.2(DNAH11):c.7135-14T>G rs1784841830
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.8023A>G (p.Ile2675Val) rs72657364
NM_001277115.2(DNAH11):c.8511-15G>A rs111471486
NM_001277115.2(DNAH11):c.8797+12A>C rs372924996
NM_001277115.2(DNAH11):c.9013T>C (p.Cys3005Arg) rs369196786
NM_001277115.2(DNAH11):c.9209C>G (p.Thr3070Ser) rs527922611
NM_001277115.2(DNAH11):c.9312A>G (p.Gln3104=) rs886062181
NM_001277115.2(DNAH11):c.9561G>A (p.Leu3187=) rs6965750
NM_001277115.2(DNAH11):c.9627C>T (p.Pro3209=) rs200256329
NM_001278293.3(ARL6):c.*275G>A rs886058939
NM_001278293.3(ARL6):c.-27-1461A>T rs143739859
NM_001278293.3(ARL6):c.266C>A (p.Ala89Asp) rs587777805
NM_001278293.3(ARL6):c.341A>G (p.Asn114Ser) rs2037385151
NM_001278293.3(ARL6):c.365G>C (p.Arg122Pro) rs142258123
NM_001278293.3(ARL6):c.526T>C (p.Trp176Arg) rs886058938
NM_001369.3(DNAH5):c.*1119T>C rs148467464
NM_001369.3(DNAH5):c.*1342T>G rs886059931
NM_001369.3(DNAH5):c.*291G>A rs771015963
NM_001369.3(DNAH5):c.*355G>A rs778207515
NM_001369.3(DNAH5):c.*563G>A rs189538534
NM_001369.3(DNAH5):c.*802A>G rs886059932
NM_001369.3(DNAH5):c.*92G>A rs886059933
NM_001369.3(DNAH5):c.-8C>A rs199528866
NM_001369.3(DNAH5):c.-8C>T rs199528866
NM_001369.3(DNAH5):c.1035G>A (p.Val345=) rs150335023
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln) rs202169624
NM_001369.3(DNAH5):c.10470C>T (p.Ser3490=) rs1750680564
NM_001369.3(DNAH5):c.10556-15T>C rs754992743
NM_001369.3(DNAH5):c.10731C>A (p.Asn3577Lys) rs376292253
NM_001369.3(DNAH5):c.1090-6T>C rs886060015
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001369.3(DNAH5):c.10974A>G (p.Pro3658=) rs774653078
NM_001369.3(DNAH5):c.10983T>A (p.Asp3661Glu) rs886059971
NM_001369.3(DNAH5):c.11016G>T (p.Gly3672=) rs1580060938
NM_001369.3(DNAH5):c.11614A>T (p.Ile3872Phe) rs572139897
NM_001369.3(DNAH5):c.11986C>T (p.Arg3996Cys) rs886059970
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.12500-3C>T rs1311123080
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu) rs547445590
NM_001369.3(DNAH5):c.12586C>G (p.Gln4196Glu) rs886059965
NM_001369.3(DNAH5):c.12997C>A (p.Leu4333Met) rs1217758791
NM_001369.3(DNAH5):c.13114G>A (p.Val4372Ile) rs1744009916
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) rs370684795
NM_001369.3(DNAH5):c.1341C>T (p.His447=) rs886060014
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.13481C>T (p.Ala4494Val) rs756228394
NM_001369.3(DNAH5):c.13491+8C>T rs1742074967
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.13734T>C (p.Asp4578=) rs1740774348
NM_001369.3(DNAH5):c.13747T>C (p.Ser4583Pro) rs770287375
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp) rs770244453
NM_001369.3(DNAH5):c.13825C>A (p.Pro4609Thr) rs886059934
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys) rs189145014
NM_001369.3(DNAH5):c.1475C>T (p.Thr492Met) rs189145014
NM_001369.3(DNAH5):c.1578A>G (p.Leu526=) rs1775984639
NM_001369.3(DNAH5):c.2126A>G (p.Asn709Ser) rs1774434030
NM_001369.3(DNAH5):c.2578-5del rs752460183
NM_001369.3(DNAH5):c.2578-8_2578-6del rs886060011
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.3(DNAH5):c.2594G>T (p.Gly865Val) rs886060008
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile) rs1772373275
NM_001369.3(DNAH5):c.2743+12G>A rs1380292180
NM_001369.3(DNAH5):c.283C>G (p.Leu95Val) rs757542755
NM_001369.3(DNAH5):c.294A>T (p.Leu98=) rs1458038548
NM_001369.3(DNAH5):c.3175A>G (p.Lys1059Glu) rs1771856279
NM_001369.3(DNAH5):c.3304C>A (p.Gln1102Lys) rs774143246
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001369.3(DNAH5):c.4171C>A (p.Leu1391Ile) rs1000047685
NM_001369.3(DNAH5):c.4341A>T (p.Leu1447Phe) rs1769139958
NM_001369.3(DNAH5):c.4474A>G (p.Met1492Val) rs1768940067
NM_001369.3(DNAH5):c.4498A>G (p.Thr1500Ala) rs886059989
NM_001369.3(DNAH5):c.4707A>G (p.Gly1569=) rs886059985
NM_001369.3(DNAH5):c.4807C>A (p.Pro1603Thr) rs369137751
NM_001369.3(DNAH5):c.5022T>A (p.Ser1674Arg) rs758627759
NM_001369.3(DNAH5):c.5272-13dup rs886059980
NM_001369.3(DNAH5):c.5272-15del rs35337694
NM_001369.3(DNAH5):c.5272-15dup rs35337694
NM_001369.3(DNAH5):c.5272-17_5272-15dup rs35337694
NM_001369.3(DNAH5):c.5272-8dup rs886059979
NM_001369.3(DNAH5):c.5272-9C>T rs555481241
NM_001369.3(DNAH5):c.536C>A (p.Thr179Lys) rs747116308
NM_001369.3(DNAH5):c.5538T>G (p.Leu1846=) rs886059978
NM_001369.3(DNAH5):c.5608T>C (p.Leu1870=) rs763656985
NM_001369.3(DNAH5):c.57_57+1delinsAA rs1560984816
NM_001369.3(DNAH5):c.5821A>G (p.Ile1941Val) rs754033261
NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=) rs1764848840
NM_001369.3(DNAH5):c.6070C>A (p.Gln2024Lys) rs989184330
NM_001369.3(DNAH5):c.6454G>A (p.Asp2152Asn) rs886059975
NM_001369.3(DNAH5):c.661-8C>T rs1227311322
NM_001369.3(DNAH5):c.6705A>T (p.Leu2235Phe) rs765945557
NM_001369.3(DNAH5):c.7206C>A (p.Ile2402=) rs747529694
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=) rs876657454
NM_001369.3(DNAH5):c.7390G>A (p.Gly2464Ser) rs112103817
NM_001369.3(DNAH5):c.7449G>A (p.Leu2483=) rs886059974
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.3(DNAH5):c.765T>C (p.Asp255=) rs767772613
NM_001369.3(DNAH5):c.777A>G (p.Val259=) rs1580893242
NM_001369.3(DNAH5):c.7786A>C (p.Lys2596Gln) rs1759848562
NM_001369.3(DNAH5):c.7825C>A (p.Pro2609Thr) rs886059973
NM_001369.3(DNAH5):c.7923T>G (p.Gly2641=) rs748304927
NM_001369.3(DNAH5):c.8036T>A (p.Leu2679Gln) rs1424415934
NM_001369.3(DNAH5):c.8217G>C (p.Lys2739Asn) rs375287005
NM_001369.3(DNAH5):c.8821-14G>A rs769508388
NM_001369.3(DNAH5):c.8982T>G (p.Asp2994Glu) rs773014523
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu) rs113742238
NM_001369.3(DNAH5):c.9552C>A (p.Gly3184=) rs149749266
NM_001369.3(DNAH5):c.9573A>G (p.Glu3191=) rs373510512
NM_001369.3(DNAH5):c.9739A>G (p.Met3247Val) rs780887847
NM_001369.3(DNAH5):c.9850C>A (p.Leu3284Met) rs1752912351
NM_001369.3(DNAH5):c.9912G>A (p.Ser3304=) rs188218914
NM_001369.3(DNAH5):c.9955A>G (p.Ile3319Val) rs1752483044
NM_001377.3(DYNC2H1):c.*52A>T rs1945671200
NM_001377.3(DYNC2H1):c.-148T>C rs1858000065
NM_001377.3(DYNC2H1):c.10021A>C (p.Arg3341=) rs886047573
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=) rs886047574
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.10230T>C (p.His3410=) rs1279419542
NM_001377.3(DYNC2H1):c.10326+6A>G rs750262824
NM_001377.3(DYNC2H1):c.10466G>T (p.Arg3489Leu) rs755858936
NM_001377.3(DYNC2H1):c.10975C>G (p.Gln3659Glu) rs200340319
NM_001377.3(DYNC2H1):c.12416A>G (p.Gln4139Arg) rs1793493
NM_001377.3(DYNC2H1):c.12648+5T>C rs754669196
NM_001377.3(DYNC2H1):c.12704A>G (p.Asn4235Ser) rs886047581
NM_001377.3(DYNC2H1):c.12766-7dup rs747006567
NM_001377.3(DYNC2H1):c.12766G>C (p.Asp4256His) rs772516163
NM_001377.3(DYNC2H1):c.1484A>G (p.Lys495Arg) rs202233363
NM_001377.3(DYNC2H1):c.196-13T>C rs765533229
NM_001377.3(DYNC2H1):c.2106+5A>G rs886047560
NM_001377.3(DYNC2H1):c.2533G>A (p.Asp845Asn) rs879676957
NM_001377.3(DYNC2H1):c.2669A>T (p.Lys890Ile) rs1860062786
NM_001377.3(DYNC2H1):c.266A>G (p.Glu89Gly) rs886047558
NM_001377.3(DYNC2H1):c.282C>A (p.Asn94Lys) rs1858224158
NM_001377.3(DYNC2H1):c.3046G>C (p.Asp1016His) rs867893518
NM_001377.3(DYNC2H1):c.3573+5G>T rs886047561
NM_001377.3(DYNC2H1):c.3662G>C (p.Arg1221Thr) rs12794914
NM_001377.3(DYNC2H1):c.3685C>G (p.Leu1229Val) rs1860772300
NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His) rs200635842
NM_001377.3(DYNC2H1):c.4497G>T (p.Trp1499Cys) rs886047563
NM_001377.3(DYNC2H1):c.4808T>G (p.Ile1603Ser) rs541231234
NM_001377.3(DYNC2H1):c.5913G>C (p.Gln1971His) rs375160131
NM_001377.3(DYNC2H1):c.6931A>G (p.Thr2311Ala) rs760509494
NM_001377.3(DYNC2H1):c.7032T>A (p.Arg2344=) rs760382908
NM_001377.3(DYNC2H1):c.7085A>G (p.Asn2362Ser) rs1862122773
NM_001377.3(DYNC2H1):c.7293-13C>G rs372796223
NM_001377.3(DYNC2H1):c.7452T>G (p.Phe2484Leu) rs1862311130
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.7540+14G>T rs115273161
NM_001377.3(DYNC2H1):c.7625C>T (p.Ala2542Val) rs1862343744
NM_001377.3(DYNC2H1):c.7837A>G (p.Lys2613Glu) rs1862571427
NM_001377.3(DYNC2H1):c.7840-6dup rs886047567
NM_001377.3(DYNC2H1):c.8149T>C (p.Phe2717Leu) rs1862657961
NM_001377.3(DYNC2H1):c.8236C>A (p.Pro2746Thr) rs1862808181
NM_001377.3(DYNC2H1):c.8351C>T (p.Ser2784Phe) rs886047568
NM_001377.3(DYNC2H1):c.8504A>T (p.Asp2835Val) rs540042560
NM_001377.3(DYNC2H1):c.9122G>A (p.Arg3041Lys) rs886047570
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=) rs886047572
NM_001377.3(DYNC2H1):c.9968C>G (p.Thr3323Ser) rs1297244083
NM_001378454.1(ALMS1):c.10180A>G (p.Lys3394Glu) rs886056316
NM_001378454.1(ALMS1):c.10297A>G (p.Thr3433Ala) rs750493624
NM_001378454.1(ALMS1):c.10826A>G (p.Gln3609Arg) rs886056317
NM_001378454.1(ALMS1):c.11605A>T (p.Ser3869Cys) rs886056318
NM_001378454.1(ALMS1):c.11887G>T (p.Val3963Phe) rs886056319
NM_001378454.1(ALMS1):c.11998C>T (p.Pro4000Ser) rs767061718
NM_001378454.1(ALMS1):c.1264G>A (p.Asp422Asn) rs886056297
NM_001378454.1(ALMS1):c.1326A>G (p.Glu442=) rs886056298
NM_001378454.1(ALMS1):c.1340C>G (p.Pro447Arg) rs886056299
NM_001378454.1(ALMS1):c.1704A>C (p.Pro568=) rs886056300
NM_001378454.1(ALMS1):c.2116A>G (p.Thr706Ala) rs886056301
NM_001378454.1(ALMS1):c.2724C>T (p.Tyr908=) rs573325092
NM_001378454.1(ALMS1):c.3406A>G (p.Thr1136Ala) rs886056302
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) 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.36GGA[17] (p.Glu25_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.4238G>C (p.Gly1413Ala) rs886038612
NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=) rs886038613
NM_001378454.1(ALMS1):c.5559G>A (p.Gln1853=) rs886056303
NM_001378454.1(ALMS1):c.5620A>G (p.Lys1874Glu) rs886038614
NM_001378454.1(ALMS1):c.5780G>A (p.Gly1927Asp) rs886056304
NM_001378454.1(ALMS1):c.5931G>C (p.Lys1977Asn) rs886056305
NM_001378454.1(ALMS1):c.6014A>G (p.Asp2005Gly) rs886056306
NM_001378454.1(ALMS1):c.6070A>G (p.Lys2024Glu) rs886056307
NM_001378454.1(ALMS1):c.6139T>A (p.Ser2047Thr) rs886056308
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr) rs886038615
NM_001378454.1(ALMS1):c.6847C>T (p.Leu2283Phe) rs886056309
NM_001378454.1(ALMS1):c.7262A>G (p.Asp2421Gly) rs886056310
NM_001378454.1(ALMS1):c.7325T>A (p.Val2442Asp) rs886056311
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617
NM_001378454.1(ALMS1):c.8479A>C (p.Arg2827=) rs886056312
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly) rs886056313
NM_001378454.1(ALMS1):c.9078T>C (p.Asn3026=) rs886056314
NM_001378454.1(ALMS1):c.9224C>T (p.Ser3075Phe) rs886056315
NM_001378454.1(ALMS1):c.9538C>A (p.Arg3180=) rs563393715
NM_001378615.1(CC2D2A):c.-178T>C rs886059135
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001378615.1(CC2D2A):c.1827G>A (p.Glu609=) rs886059138
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=) rs550913315
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.2339-10_2339-9del rs886059157
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001378615.1(CC2D2A):c.2486+9T>C rs768382177
NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val) rs376403848
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.3398+13T>C rs886059183
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala) rs886059185
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu) rs1485264498
NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=) rs1721486758
NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001384732.1(CPLANE1):c.*40C>T rs1757860413
NM_001384732.1(CPLANE1):c.*423C>G rs190089842
NM_001384732.1(CPLANE1):c.*441A>C rs7712558
NM_001384732.1(CPLANE1):c.*661T>G rs886060569
NM_001384732.1(CPLANE1):c.-77C>T rs910545554
NM_001384732.1(CPLANE1):c.1347A>G (p.Ile449Met) rs1796727512
NM_001384732.1(CPLANE1):c.1554A>T (p.Arg518Ser) rs886060583
NM_001384732.1(CPLANE1):c.190G>T (p.Val64Phe) rs965197100
NM_001384732.1(CPLANE1):c.2291+8C>T rs1454521743
NM_001384732.1(CPLANE1):c.2558C>A (p.Ala853Asp) rs886060580
NM_001384732.1(CPLANE1):c.4190-10_4190-9del rs111508546
NM_001384732.1(CPLANE1):c.4362del (p.Thr1455fs) rs1561531833
NM_001384732.1(CPLANE1):c.4379G>C (p.Ser1460Thr) rs886060579
NM_001384732.1(CPLANE1):c.4481+4C>G rs769785905
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263
NM_001384732.1(CPLANE1):c.5054T>C (p.Ile1685Thr) rs750439635
NM_001384732.1(CPLANE1):c.5150G>A (p.Cys1717Tyr) rs765017990
NM_001384732.1(CPLANE1):c.523A>G (p.Thr175Ala) rs886060586
NM_001384732.1(CPLANE1):c.5413_5417del (p.Ala1804_Ile1805insTer) rs1202341886
NM_001384732.1(CPLANE1):c.5447G>C (p.Cys1816Ser) rs138639220
NM_001384732.1(CPLANE1):c.5783C>G (p.Ala1928Gly) rs190242054
NM_001384732.1(CPLANE1):c.6062C>G (p.Pro2021Arg) rs928348123
NM_001384732.1(CPLANE1):c.6125A>C (p.Glu2042Ala) rs766565364
NM_001384732.1(CPLANE1):c.6456C>T (p.Asn2152=) rs186460995
NM_001384732.1(CPLANE1):c.7095A>G (p.Pro2365=) rs886060577
NM_001384732.1(CPLANE1):c.7417G>A (p.Glu2473Lys) rs886060576
NM_001384732.1(CPLANE1):c.7438dup (p.Arg2480fs) rs886060575
NM_001384732.1(CPLANE1):c.7478G>T (p.Arg2493Leu) rs183942272
NM_001384732.1(CPLANE1):c.7494A>G (p.Ile2498Met) rs1778030432
NM_001384732.1(CPLANE1):c.7984G>C (p.Val2662Leu) rs772274656
NM_001384732.1(CPLANE1):c.8539G>C (p.Glu2847Gln) rs886060574
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_001384732.1(CPLANE1):c.8663+13A>C rs1768906064
NM_001384732.1(CPLANE1):c.8663+8_8663+12del rs763664569
NM_001384732.1(CPLANE1):c.8670A>G (p.Ser2890=) rs886060573
NM_001384732.1(CPLANE1):c.9180A>G (p.Pro3060=) rs1762653550
NM_001384732.1(CPLANE1):c.938+10C>G rs1308998312
NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=) rs377707922
NM_001384732.1(CPLANE1):c.9729G>A (p.Leu3243=) rs1339135347
NM_002408.4(MGAT2):c.-351G>T rs116136260
NM_005465.7(AKT3):c.*5155_*5159dup rs577416381
NM_006642.5(SDCCAG8):c.*149T>C rs1057515424
NM_006642.5(SDCCAG8):c.*214_*217dup rs1057515485
NM_006642.5(SDCCAG8):c.*287A>G rs1057515459
NM_006642.5(SDCCAG8):c.*97G>A rs554190542
NM_006642.5(SDCCAG8):c.-98C>T rs886046329
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=) rs778405068
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=) rs1057515483
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys) rs753709808
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=) rs2080533501
NM_006642.5(SDCCAG8):c.1745-7T>A rs532763241
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.420+12A>G rs2068379887
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036
NM_012144.4(DNAI1):c.*163C>G rs1051948461
NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr) rs767667443
NM_012144.4(DNAI1):c.1818+15C>A rs1825142151
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser) rs11547035
NM_012144.4(DNAI1):c.262-8C>A rs1824533419
NM_012144.4(DNAI1):c.649C>G (p.Pro217Ala) rs886063882
NM_012210.4(TRIM32):c.*1060T>C rs886063385
NM_012210.4(TRIM32):c.*1074A>T rs1861131414
NM_012210.4(TRIM32):c.*1207A>G rs886063386
NM_012210.4(TRIM32):c.*1254C>A rs1861140982
NM_012210.4(TRIM32):c.*1490A>C rs886063388
NM_012210.4(TRIM32):c.*152T>G rs868402796
NM_012210.4(TRIM32):c.*206A>G rs567913198
NM_012210.4(TRIM32):c.*250G>C rs1861092175
NM_012210.4(TRIM32):c.*312G>C rs1434937610
NM_012210.4(TRIM32):c.*371T>C rs866692844
NM_012210.4(TRIM32):c.*464C>G rs1861100376
NM_012210.4(TRIM32):c.*479G>T rs543534409
NM_012210.4(TRIM32):c.*737T>C rs549857802
NM_012210.4(TRIM32):c.*811del rs886063382
NM_012210.4(TRIM32):c.*866A>C rs886063383
NM_012210.4(TRIM32):c.-143C>T rs1860294388
NM_012210.4(TRIM32):c.1573G>T (p.Gly525Cys) rs1861055421
NM_012210.4(TRIM32):c.317G>A (p.Arg106His) rs760730435
NM_012210.4(TRIM32):c.621A>G (p.Thr207=) rs1206247561
NM_012210.4(TRIM32):c.660G>C (p.Val220=) rs3747833
NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp) rs372298402
NM_012224.2(NEK1):c.-614C>A rs10520157
NM_012472.6(DNAAF11):c.*197C>G rs1814250341
NM_012472.6(DNAAF11):c.*32C>A rs1814269845
NM_012472.6(DNAAF11):c.*68T>G rs374717230
NM_012472.6(DNAAF11):c.1044+12C>A rs564023548
NM_012472.6(DNAAF11):c.1223C>G (p.Thr408Arg) rs1815572688
NM_012472.6(DNAAF11):c.1300G>A (p.Glu434Lys) rs886062700
NM_012472.6(DNAAF11):c.234T>G (p.Ile78Met) rs749435096
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs) rs769220870
NM_014714.4(IFT140):c.*158G>C rs886051707
NM_014714.4(IFT140):c.*226T>G rs886051706
NM_014714.4(IFT140):c.*278C>A rs886051705
NM_014714.4(IFT140):c.*91G>T rs2040116815
NM_014714.4(IFT140):c.-24C>G rs373009406
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln) rs752956717
NM_014714.4(IFT140):c.1380C>T (p.Asn460=) rs1339640657
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg) rs886051770
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser) rs886051769
NM_014714.4(IFT140):c.2578-13C>T rs886051723
NM_014714.4(IFT140):c.2682C>A (p.His894Gln) rs774192784
NM_014714.4(IFT140):c.2682_2683insA (p.His895fs) rs776988446
NM_014714.4(IFT140):c.2709C>T (p.Thr903=) rs1460776036
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly) rs548992623
NM_014714.4(IFT140):c.2997+8C>G rs372183503
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn) rs148194893
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.3385T>C (p.Cys1129Arg) rs886051709
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=) rs763709094
NM_014714.4(IFT140):c.3660+13C>T rs767836990
NM_014714.4(IFT140):c.3668G>A (p.Arg1223Lys) rs751861503
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu) rs886051708
NM_014714.4(IFT140):c.459G>T (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) rs148462329
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe) rs886051768
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) rs141254616
NM_014714.4(IFT140):c.810+9G>T rs886051767
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_014714.4(IFT140):c.867C>T (p.Ser289=) rs145858131
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) rs758052767
NM_015102.5(NPHP4):c.*26C>T rs533259623
NM_015102.5(NPHP4):c.*87C>G rs1640812510
NM_015102.5(NPHP4):c.136-12G>C rs371432148
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro) rs375429200
NM_015102.5(NPHP4):c.1527C>T (p.Ala509=) rs773573886
NM_015102.5(NPHP4):c.1955+7C>A rs886046466
NM_015102.5(NPHP4):c.1987C>A (p.Pro663Thr) rs886046465
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu) rs375416303
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys) rs764028061
NM_015102.5(NPHP4):c.2434G>A (p.Gly812Ser) rs755644390
NM_015102.5(NPHP4):c.2673A>G (p.Leu891=) rs974196549
NM_015102.5(NPHP4):c.3045-4C>A rs886046462
NM_015102.5(NPHP4):c.3078C>T (p.Phe1026=) rs886046461
NM_015102.5(NPHP4):c.3082G>C (p.Gly1028Arg) rs1557616048
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=) rs762953303
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly) rs748449029
NM_015102.5(NPHP4):c.820C>G (p.Pro274Ala) rs886046467
NM_015120.4(ALMS1):c.-107G>A rs886056292
NM_015120.4(ALMS1):c.-39CTC[4] rs746980000
NM_015120.4(ALMS1):c.-39del rs764473588
NM_015120.4(ALMS1):c.-48C>T rs543687863
NM_015120.4(ALMS1):c.-78A>G rs571728800
NM_015120.4(ALMS1):c.-91A>G rs1670500821
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*125G>T rs868861934
NM_015272.5(RPGRIP1L):c.*133T>A rs1963396187
NM_015272.5(RPGRIP1L):c.*159T>G rs1963395143
NM_015272.5(RPGRIP1L):c.*1645A>T rs144554139
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*846A>T rs1963365021
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.-16A>G rs909461672
NM_015272.5(RPGRIP1L):c.-8G>T rs1020579838
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys) rs776941281
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=) rs1967363312
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.230+14G>A rs1970739259
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3617-13dup rs750499169
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=) rs773361667
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys) rs376808910
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile) rs1195150584
NM_015681.6(B9D1):c.-21C>T rs1911267997
NM_015681.6(B9D1):c.9C>G (p.Thr3=) rs749611797
NM_015910.6(WDPCP):c.-322delT rs886056228
NM_015910.7(WDPCP):c.*138GTTT[1] rs886056221
NM_015910.7(WDPCP):c.*586AG[2] rs886056220
NM_015910.7(WDPCP):c.*624_*625del rs139878372
NM_015910.7(WDPCP):c.*634A>G rs944385657
NM_015910.7(WDPCP):c.-108GCG[6] rs563531309
NM_015910.7(WDPCP):c.-96G>T rs1282451086
NM_015910.7(WDPCP):c.1080G>A (p.Ser360=) rs376164426
NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr) rs886056224
NM_015910.7(WDPCP):c.142A>G (p.Asn48Asp) rs1700981081
NM_015910.7(WDPCP):c.1600C>A (p.Gln534Lys) rs987143451
NM_015910.7(WDPCP):c.1706A>T (p.Gln569Leu) rs780342443
NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu) rs778132438
NM_015910.7(WDPCP):c.1923G>A (p.Leu641=) rs886056223
NM_015910.7(WDPCP):c.1945A>G (p.Met649Val) rs759281211
NM_015910.7(WDPCP):c.2158+14A>G rs1042442806
NM_015910.7(WDPCP):c.2216A>G (p.Lys739Arg) rs374727283
NM_015910.7(WDPCP):c.254C>T (p.Ser85Leu) rs886056225
NM_015910.7(WDPCP):c.630_631dup (p.Lys211fs) rs769674404
NM_015910.7(WDPCP):c.661A>G (p.Ile221Val) rs571641878
NM_015910.7(WDPCP):c.924A>G (p.Val308=) rs201844706
NM_016464.4(TMEM138):c.-226C>G rs545702620
NM_016464.4(TMEM138):c.-350A>C rs886048406
NM_016464.4(TMEM138):c.-518C>T rs530037192
NM_016464.4(TMEM138):c.-520_-518delTCC rs369988724
NM_016464.5(TMEM138):c.*407G>C rs886048410
NM_016464.5(TMEM138):c.128+15G>A rs886048408
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) rs1858145836
NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser) rs1349854928
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517
NM_017777.4(MKS1):c.-20C>G rs115507363
NM_017777.4(MKS1):c.1253T>C (p.Val418Ala) rs886053169
NM_017777.4(MKS1):c.1273+4A>G rs948397956
NM_017777.4(MKS1):c.1598G>A (p.Arg533His) rs779093781
NM_017777.4(MKS1):c.263T>C (p.Phe88Ser) rs886053170
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr) rs1969184476
NM_017777.4(MKS1):c.729G>T (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.763G>T (p.Gly255Trp) rs201237547
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_017777.4(MKS1):c.813C>A (p.His271Gln) rs201961765
NM_017950.4(CCDC40):c.*190A>G rs886053535
NM_017950.4(CCDC40):c.*201G>A rs1371835117
NM_017950.4(CCDC40):c.*347C>T rs886053538
NM_017950.4(CCDC40):c.*632G>A rs369325014
NM_017950.4(CCDC40):c.*681T>C rs2038901677
NM_017950.4(CCDC40):c.1054C>T (p.His352Tyr) rs763452738
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=) rs200154414
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys) rs59978698
NM_017950.4(CCDC40):c.1544C>T (p.Ala515Val) rs774455448
NM_017950.4(CCDC40):c.1896C>T (p.Ile632=) rs886053534
NM_017950.4(CCDC40):c.1974G>A (p.Lys658=) rs777997435
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=) rs200641382
NM_017950.4(CCDC40):c.2711+11G>T rs1434924240
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
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.2926G>C (p.Glu976Gln) rs761440789
NM_017950.4(CCDC40):c.3263G>A (p.Arg1088His) rs200145777
NM_017950.4(CCDC40):c.3284dup (p.Glu1096fs) rs1567819753
NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu) rs368814379
NM_017950.4(CCDC40):c.552+5G>A rs2037242772
NM_017950.4(CCDC40):c.553-6C>A rs758045878
NM_018139.3(DNAAF2):c.*157A>G rs1010007979
NM_018139.3(DNAAF2):c.*182del rs879075266
NM_018139.3(DNAAF2):c.*213A>G rs1882971555
NM_018139.3(DNAAF2):c.1114C>G (p.Arg372Gly) rs758481481
NM_018139.3(DNAAF2):c.1136C>G (p.Ala379Gly) rs967364703
NM_018139.3(DNAAF2):c.1502C>T (p.Thr501Met) rs375822050
NM_018139.3(DNAAF2):c.1552G>A (p.Gly518Arg) rs145008882
NM_018139.3(DNAAF2):c.1568C>T (p.Pro523Leu) rs199957238
NM_018139.3(DNAAF2):c.1585C>T (p.Gln529Ter) rs139416233
NM_018139.3(DNAAF2):c.1596A>G (p.Glu532=) rs374369407
NM_018139.3(DNAAF2):c.387C>G (p.Arg129=) rs886050529
NM_018139.3(DNAAF2):c.411C>A (p.Ser137Arg) rs541232616
NM_018139.3(DNAAF2):c.864A>G (p.Glu288=) rs1883265471
NM_018718.2(CEP41):c.-178C>A rs10230670
NM_018718.2(CEP41):c.-178C>T rs10230670
NM_018718.2(CEP41):c.-244A>T rs886062003
NM_018718.3(CEP41):c.*1191G>A rs781848072
NM_018718.3(CEP41):c.*1357del rs886061999
NM_018718.3(CEP41):c.*1384del rs55776575
NM_018718.3(CEP41):c.*1384dup rs55776575
NM_018718.3(CEP41):c.*1386dup rs886061997
NM_018718.3(CEP41):c.*1768G>T rs552499760
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2196T>C rs574519929
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2725C>T rs1796651983
NM_018718.3(CEP41):c.*287C>T rs1796743356
NM_018718.3(CEP41):c.*3069T>C rs886061990
NM_018718.3(CEP41):c.*3526dup rs3839655
NM_018718.3(CEP41):c.*3708A>T rs576298616
NM_018718.3(CEP41):c.*4343C>G rs1554413758
NM_018718.3(CEP41):c.*4365G>A rs535299613
NM_018718.3(CEP41):c.*4539C>T rs1796601439
NM_018718.3(CEP41):c.*4659C>G rs886061986
NM_018718.3(CEP41):c.*4866C>T rs782719539
NM_018718.3(CEP41):c.-41C>T rs886062002
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018719.5(CDCA7L):c.*551CACTGGA[1] rs113860457
NM_018719.5(CDCA7L):c.*766_*769dup rs745609865
NM_018719.5(CDCA7L):c.*788T>C rs1289391313
NM_018719.5(CDCA7L):c.*875G>A rs72658842
NM_018719.5(CDCA7L):c.*879G>C rs62445901
NM_018719.5(CDCA7L):c.*918_*919dup rs886062190
NM_018719.5(CDCA7L):c.*989G>A rs886062189
NM_019892.6(INPP5E):c.*484C>G rs1358870988
NM_019892.6(INPP5E):c.*559C>T rs1835639348
NM_019892.6(INPP5E):c.*582C>T rs931605716
NM_019892.6(INPP5E):c.*727C>T rs886063709
NM_019892.6(INPP5E):c.-149C>T rs1386453934
NM_019892.6(INPP5E):c.-343T>C rs886063715
NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg) rs368235861
NM_019892.6(INPP5E):c.1034+8G>A rs201272028
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=) rs746782404
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys) rs886063713
NM_019892.6(INPP5E):c.1479G>A (p.Leu493=) rs754015058
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg) rs13294000
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.812+3AGGG[3] rs5901103
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_020779.4(WDR35):c.*1005C>A rs746476400
NM_020779.4(WDR35):c.*1270C>T rs568999408
NM_020779.4(WDR35):c.*1461A>C rs886055400
NM_020779.4(WDR35):c.*1637C>T rs1669848389
NM_020779.4(WDR35):c.*16T>C rs1669898811
NM_020779.4(WDR35):c.*1754C>G rs1188052659
NM_020779.4(WDR35):c.*1934A>G rs886055399
NM_020779.4(WDR35):c.*1960G>T rs1669835588
NM_020779.4(WDR35):c.*2239G>A rs1042042509
NM_020779.4(WDR35):c.*2341G>C rs886055397
NM_020779.4(WDR35):c.*2629T>A rs1001737898
NM_020779.4(WDR35):c.*271A>G rs994131640
NM_020779.4(WDR35):c.*2962C>T rs886055393
NM_020779.4(WDR35):c.*2990G>T rs781556463
NM_020779.4(WDR35):c.*573A>T rs140069324
NM_020779.4(WDR35):c.*635C>T rs1669878199
NM_020779.4(WDR35):c.*978A>G rs149444449
NM_020779.4(WDR35):c.*998A>G rs530093062
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_020779.4(WDR35):c.1231T>G (p.Leu411Val) rs1418266904
NM_020779.4(WDR35):c.1609C>G (p.Gln537Glu) rs1416766008
NM_020779.4(WDR35):c.24+4A>G rs780961583
NM_020779.4(WDR35):c.2400T>C (p.Ala800=) rs886055404
NM_020779.4(WDR35):c.2455G>A (p.Glu819Lys) rs768049606
NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys) rs886055403
NM_020779.4(WDR35):c.273A>G (p.Glu91=) rs1558360162
NM_020779.4(WDR35):c.308G>C (p.Gly103Ala) rs886055406
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala) rs1669900626
NM_020800.2(IFT80):c.-321A>G rs886058137
NM_020800.3(IFT80):c.*1210TA[8] rs150435844
NM_020800.3(IFT80):c.*1254C>T rs552228241
NM_020800.3(IFT80):c.*130G>C rs769437271
NM_020800.3(IFT80):c.*540A>G rs886058127
NM_020800.3(IFT80):c.*844G>T rs886058125
NM_020800.3(IFT80):c.*94A>G rs1712528091
NM_020800.3(IFT80):c.-31G>A rs886058135
NM_020800.3(IFT80):c.1316-13A>C rs886058132
NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala) rs1715048069
NM_020800.3(IFT80):c.1381-1G>T rs1559917932
NM_020800.3(IFT80):c.1401T>C (p.Ala467=) rs1714770364
NM_020800.3(IFT80):c.1525G>T (p.Val509Leu) rs758912357
NM_020800.3(IFT80):c.1993A>T (p.Ile665Leu) rs886058130
NM_020800.3(IFT80):c.2038C>T (p.Leu680Phe) rs747952085
NM_020800.3(IFT80):c.2205C>T (p.Tyr735=) rs886058129
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-10dup rs58665245
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_020800.3(IFT80):c.483G>T (p.Lys161Asn) rs886058133
NM_020800.3(IFT80):c.617C>A (p.Ala206Asp) rs1721180241
NM_020800.3(IFT80):c.668A>G (p.Tyr223Cys) rs201223006
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter) rs201858128
NM_020800.3(IFT80):c.842G>A (p.Gly281Asp) rs572058775
NM_023036.6(DNAI2):c.*272C>G rs886053380
NM_023036.6(DNAI2):c.*339C>T rs2053734425
NM_023036.6(DNAI2):c.-21C>A rs753355539
NM_023036.6(DNAI2):c.-4C>T rs757989808
NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln) rs199726930
NM_023036.6(DNAI2):c.123C>T (p.Phe41=) rs542439989
NM_023036.6(DNAI2):c.1248C>T (p.Ser416=) rs886053378
NM_023036.6(DNAI2):c.1348-15C>G rs755825865
NM_023036.6(DNAI2):c.1455C>G (p.Leu485=) rs901923607
NM_023036.6(DNAI2):c.1489T>A (p.Ser497Thr) rs776297555
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.1737AGA[2] (p.Glu581del) rs886053379
NM_023036.6(DNAI2):c.39G>A (p.Glu13=) rs533814143
NM_023036.6(DNAI2):c.611-3T>C rs886053377
NM_023036.6(DNAI2):c.982A>G (p.Thr328Ala) rs2052739853
NM_023073.3(CPLANE1):c.-234G>A rs80164363
NM_024649.5(BBS1):c.*474G>A rs146244814
NM_024649.5(BBS1):c.*514C>T rs886048527
NM_024649.5(BBS1):c.*51C>G rs757289650
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024649.5(BBS1):c.*776G>A rs1856839016
NM_024649.5(BBS1):c.*855G>A rs886048530
NM_024649.5(BBS1):c.*886C>T rs754365737
NM_024649.5(BBS1):c.1071T>C (p.Ile357=) rs1856362378
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1180+5G>A rs886048525
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln) rs1856803176
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys) rs753517084
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys) rs148576114
NM_024685.4(BBS10):c.*1145A>C rs886049841
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*1275A>C rs886049837
NM_024685.4(BBS10):c.*48G>C rs1951752530
NM_024685.4(BBS10):c.*641AT[2] rs886049845
NM_024685.4(BBS10):c.*891T>C rs886049844
NM_024685.4(BBS10):c.*930A>G rs886049843
NM_024685.4(BBS10):c.-4A>G rs886049853
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1203A>T (p.Gly401=) rs1951762391
NM_024685.4(BBS10):c.1465G>C (p.Val489Leu) rs1478926935
NM_024685.4(BBS10):c.1472C>A (p.Ser491Tyr) rs886049850
NM_024685.4(BBS10):c.147G>A (p.Arg49=) rs1592493118
NM_024685.4(BBS10):c.1566G>T (p.Thr522=) rs1200334802
NM_024685.4(BBS10):c.1567C>A (p.Leu523Met) rs886049849
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.197+4C>T rs886049852
NM_024685.4(BBS10):c.1973A>T (p.Tyr658Phe) rs886049848
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.460T>C (p.Leu154=) rs754415474
NM_024685.4(BBS10):c.681C>G (p.Gly227=) rs886049851
NM_024685.4(BBS10):c.969A>G (p.Ala323=) rs1951764520
NM_024753.4(TTC21B):c.-75A>C rs886055032
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.5(TTC21B):c.*1117A>G rs189771746
NM_024753.5(TTC21B):c.*1123dup rs886055020
NM_024753.5(TTC21B):c.*451G>C rs886055023
NM_024753.5(TTC21B):c.*540T>C rs534739269
NM_024753.5(TTC21B):c.*544A>G rs565605248
NM_024753.5(TTC21B):c.*681G>A rs545195226
NM_024753.5(TTC21B):c.*926C>A rs1046348644
NM_024753.5(TTC21B):c.1116G>T (p.Gly372=) rs771405314
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe) rs748339995
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=) rs573290536
NM_024753.5(TTC21B):c.1609T>C (p.Leu537=) rs200916824
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly) rs1354455514
NM_024753.5(TTC21B):c.2084C>T (p.Ala695Val) rs1686122209
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.2622T>G (p.Asp874Glu) rs886055026
NM_024753.5(TTC21B):c.2830C>A (p.Leu944Met) rs1685490402
NM_024753.5(TTC21B):c.2901C>G (p.Asp967Glu) rs886055025
NM_024753.5(TTC21B):c.2983C>G (p.Leu995Val) rs1685169149
NM_024753.5(TTC21B):c.3042A>G (p.Lys1014=) rs755454992
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.63T>C (p.His21=) rs886055029
NM_024753.5(TTC21B):c.685G>A (p.Asp229Asn) rs769003862
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) rs886055027
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028
NM_024809.5(TCTN2):c.*166T>G rs886049057
NM_024809.5(TCTN2):c.*290C>G rs886531596
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.5(TCTN2):c.*493T>A rs569489612
NM_024809.5(TCTN2):c.*562G>C rs772401980
NM_024809.5(TCTN2):c.*608T>C rs1956257782
NM_024809.5(TCTN2):c.*71T>G rs1956249051
NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val) rs1956093773
NM_024809.5(TCTN2):c.1573G>C (p.Asp525His) rs763505614
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) rs886049056
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu) rs1393954437
NM_024809.5(TCTN2):c.464-7T>A rs1955862855
NM_024809.5(TCTN2):c.490G>T (p.Val164Leu) rs776834352
NM_024809.5(TCTN2):c.615C>A (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys) rs376996387
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys) rs368146331
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) rs886049054
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) rs886049055
NM_025114.4(CEP290):c.-118C>G rs886049887
NM_025114.4(CEP290):c.-208C>T rs551070690
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1623+10G>A rs377529198
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile) rs2038007630
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val) rs2037238288
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3574-9T>A rs202038547
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe) rs2036852568
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe) rs2036834615
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
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.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.5587-8T>C rs886049878
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile) rs2034338160
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val) rs2034240720
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.942+6T>G rs886049884
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025132.3(WDR19):c.-59dup rs558898928
NM_025132.4(WDR19):c.*124T>G rs1737119800
NM_025132.4(WDR19):c.*184T>G rs886059405
NM_025132.4(WDR19):c.*293_*296dup rs374474677
NM_025132.4(WDR19):c.*83G>C rs111976533
NM_025132.4(WDR19):c.1293C>T (p.Ala431=) rs886059397
NM_025132.4(WDR19):c.171T>C (p.Cys57=) rs1483597668
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.198A>T (p.Gly66=) rs749815295
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His) rs886059399
NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys) rs1730954326
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu) rs1375996391
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe) rs780963454
NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro) rs1057523257
NM_025132.4(WDR19):c.3358+15C>T rs750722358
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr) rs886059402
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile) rs886059403
NM_025132.4(WDR19):c.750A>T (p.Ser250=) rs886059395
NM_031427.4(DNAL1):c.*1823del rs59065500
NM_031427.4(DNAL1):c.*1824del rs886050695
NM_031427.4(DNAL1):c.*2018CTT[1] rs562566868
NM_031427.4(DNAL1):c.*2570del rs746527785
NM_031427.4(DNAL1):c.*3110_*3111dup rs769560403
NM_031427.4(DNAL1):c.*334del rs147394906
NM_031427.4(DNAL1):c.*3356del rs529762916
NM_031427.4(DNAL1):c.*4427del rs398025673
NM_031427.4(DNAL1):c.*6015_*6016del rs10594595
NM_031427.4(DNAL1):c.*6016del rs10594595
NM_031427.4(DNAL1):c.*6137del rs886050714
NM_031427.4(DNAL1):c.*6138TG[10] rs10679978
NM_031427.4(DNAL1):c.*6138TG[12] rs10679978
NM_031427.4(DNAL1):c.*6138TG[14] rs10679978
NM_031427.4(DNAL1):c.*6138TG[15] rs10679978
NM_031427.4(DNAL1):c.*6138TG[16] rs10679978
NM_031427.4(DNAL1):c.*6147_*6148insCG rs886050719
NM_031427.4(DNAL1):c.*6163_*6164insTGCACG rs1555340583
NM_031427.4(DNAL1):c.*6216dup rs779734012
NM_031427.4(DNAL1):c.*6341_*6343del rs886050724
NM_031427.4(DNAL1):c.*7017dup rs367557905
NM_031427.4(DNAL1):c.*7414_*7419del rs886050727
NM_031885.3(BBS2):c.-163C>T rs750434595
NM_031885.3(BBS2):c.-191G>T rs16964239
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_031885.5(BBS2):c.-118C>T rs1042357903
NM_031885.5(BBS2):c.-133C>T rs886052152
NM_031885.5(BBS2):c.-137C>G rs77438708
NM_031885.5(BBS2):c.-161G>A rs886052155
NM_031885.5(BBS2):c.-22C>T rs528287127
NM_031885.5(BBS2):c.-67C>G rs886052151
NM_031885.5(BBS2):c.1118A>G (p.His373Arg) rs886052146
NM_031885.5(BBS2):c.118-16_118-13del rs758674101
NM_031885.5(BBS2):c.1397+7C>A rs771297840
NM_031885.5(BBS2):c.152A>G (p.His51Arg) rs1964682368
NM_031885.5(BBS2):c.1697A>G (p.Asp566Gly) rs1964156754
NM_031885.5(BBS2):c.1895G>A (p.Arg632His) rs138043021
NM_031885.5(BBS2):c.1902G>T (p.Met634Ile) rs886052145
NM_031885.5(BBS2):c.247T>C (p.Leu83=) rs1567584842
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.5(BBS2):c.634A>G (p.Met212Val) rs886052148
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_033028.5(BBS4):c.*159A>G rs2065955405
NM_033028.5(BBS4):c.*608G>T rs12898814
NM_033028.5(BBS4):c.*883C>T rs886051470
NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg) rs766535822
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu) rs886051468
NM_033028.5(BBS4):c.220+3A>T rs376143305
NM_033028.5(BBS4):c.587+1G>A rs886051466
NM_144596.4(TTC8):c.*17A>G rs1164204068
NM_144596.4(TTC8):c.*377C>T rs1395639006
NM_144596.4(TTC8):c.*418G>A rs2094963356
NM_144596.4(TTC8):c.*45A>C rs1273103151
NM_144596.4(TTC8):c.-38C>A rs886050876
NM_144596.4(TTC8):c.-44C>T rs571786285
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.1491C>T (p.Asp497=) rs886050878
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile) rs1341297017
NM_144596.4(TTC8):c.417C>G (p.Ile139Met) rs2094779029
NM_147127.5(EVC2):c.*105C>T rs1722029883
NM_147127.5(EVC2):c.*141A>G rs565382969
NM_147127.5(EVC2):c.-29C>A rs754218861
NM_147127.5(EVC2):c.1079T>A (p.Leu360His) rs774401542
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1666C>T (p.Pro556Ser) rs886059491
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val) rs143662104
NM_147127.5(EVC2):c.284-10T>G rs1192584069
NM_147127.5(EVC2):c.2983C>G (p.Leu995Val) rs548381022
NM_147127.5(EVC2):c.299G>A (p.Gly100Glu) rs886059493
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.3119A>C (p.Gln1040Pro) rs1722937250
NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr) rs182888222
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu) rs150215092
NM_147127.5(EVC2):c.3305T>C (p.Leu1102Pro) rs1722816787
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.3911C>T (p.Ala1304Val) rs1722037682
NM_147127.5(EVC2):c.427G>A (p.Glu143Lys) rs1721325369
NM_147127.5(EVC2):c.597C>T (p.Asn199=) rs1003816966
NM_147127.5(EVC2):c.857A>G (p.Glu286Gly) rs1720323516
NM_147127.5(EVC2):c.889C>G (p.Leu297Val) rs886059492
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_152259.4(TICRR):c.*911dup rs113145397
NM_152618.3(BBS12):c.*484A>G rs886059060
NM_152618.3(BBS12):c.*582G>T rs182880657
NM_152618.3(BBS12):c.*828A>C rs749924505
NM_152618.3(BBS12):c.*854C>A rs886059061
NM_152618.3(BBS12):c.*859T>A rs886059062
NM_152618.3(BBS12):c.*860G>A rs1800965519
NM_152618.3(BBS12):c.*907T>C rs1800966295
NM_152618.3(BBS12):c.-102C>T rs1578483694
NM_152618.3(BBS12):c.1100dup (p.Tyr367Ter) rs1560707645
NM_152618.3(BBS12):c.1227G>A (p.Val409=) rs1800914880
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr) rs886059058
NM_152618.3(BBS12):c.1698A>G (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.2dup (p.Met1fs) rs1560706193
NM_152732.5(RSPH9):c.112G>T (p.Asp38Tyr) rs1770713541
NM_152732.5(RSPH9):c.146G>T (p.Arg49Leu) rs1055513498
NM_152732.5(RSPH9):c.385G>A (p.Glu129Lys) rs886061477
NM_152732.5(RSPH9):c.393+13G>A rs551113626
NM_152732.5(RSPH9):c.648C>A (p.Ser216=) rs1772078528
NM_152732.5(RSPH9):c.804G>C (p.Lys268Asn) rs542453386
NM_152732.5(RSPH9):c.806A>T (p.Asn269Ile) rs1773664252
NM_153240.5(NPHP3):c.*1078T>G rs886057996
NM_153240.5(NPHP3):c.*1094A>G rs1939005375
NM_153240.5(NPHP3):c.*1184A>T rs1939002888
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*178T>G rs1939035707
NM_153240.5(NPHP3):c.*626C>G rs1156702698
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*652_*653del rs886057999
NM_153240.5(NPHP3):c.*652del rs369921629
NM_153240.5(NPHP3):c.*654dup rs886057998
NM_153240.5(NPHP3):c.1118+11A>C rs751629184
NM_153240.5(NPHP3):c.1524+11G>T rs1939687605
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu) rs576089202
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala) rs373627362
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser) rs139730838
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly) rs886058005
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3126-12dup rs398124547
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe) rs886058002
NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe) rs141144099
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004
NM_153704.5(TMEM67):c.*1676C>T rs190176192
NM_153704.6(TMEM67):c.*1099A>G rs1808956444
NM_153704.6(TMEM67):c.*1434T>C rs886063178
NM_153704.6(TMEM67):c.*218T>C rs886063175
NM_153704.6(TMEM67):c.*25C>T rs1808912343
NM_153704.6(TMEM67):c.*300G>A rs886063176
NM_153704.6(TMEM67):c.*512T>C rs570774838
NM_153704.6(TMEM67):c.*580A>G rs995505639
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2242-7G>A rs761170798
NM_153704.6(TMEM67):c.2556+5G>C rs886063172
NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly) rs201393025
NM_153704.6(TMEM67):c.2764+10A>T rs900677485
NM_153704.6(TMEM67):c.282T>C (p.Ala94=) rs1812547702
NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro) rs886063170
NM_153717.3(EVC):c.*1019A>C rs13147919
NM_153717.3(EVC):c.*1073C>T rs1271610715
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1199G>A rs1315669218
NM_153717.3(EVC):c.*1257G>T rs1013315409
NM_153717.3(EVC):c.*1277A>C rs1259649075
NM_153717.3(EVC):c.*1314G>A rs567979829
NM_153717.3(EVC):c.*1338C>T rs1717063885
NM_153717.3(EVC):c.*1394T>C rs1375474161
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1428C>G rs574764934
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.*1512T>C rs576620294
NM_153717.3(EVC):c.*1515A>T rs545639856
NM_153717.3(EVC):c.*1545T>G rs1328816482
NM_153717.3(EVC):c.*1845del rs397690241
NM_153717.3(EVC):c.*2303T>A rs915952245
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2468C>G rs1717227616
NM_153717.3(EVC):c.*2490C>G rs145238482
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*2692G>A rs149155153
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*3046G>C rs934986465
NM_153717.3(EVC):c.*3121C>G rs1717320370
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*3T>G rs368249789
NM_153717.3(EVC):c.*582C>A rs1716916256
NM_153717.3(EVC):c.*619C>G rs1716921490
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*798T>G rs13101313
NM_153717.3(EVC):c.*844C>G rs1180694671
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.*956C>G rs761012202
NM_153717.3(EVC):c.*967T>G rs182343325
NM_153717.3(EVC):c.*995T>A rs71599846
NM_153717.3(EVC):c.-138GA[1] rs886059494
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr) rs886059505
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys) rs373502728
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1465-5C>T rs1731155996
NM_153717.3(EVC):c.147C>T (p.Arg49=) rs1723020172
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1589C>T (p.Thr530Ile) rs1735956373
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu) rs1736003818
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.2143C>G (p.Gln715Glu) rs971647538
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp) rs886059506
NM_153717.3(EVC):c.2441C>T (p.Thr814Ile) rs1715104252
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.83T>C (p.Leu28Pro) rs1256100832
NM_170784.3(MKKS):c.-159A>C rs566532177
NM_170784.3(MKKS):c.-21C>G rs886056498
NM_170784.3(MKKS):c.-39A>C rs886056499
NM_170784.3(MKKS):c.-406G>C rs886056500
NM_170784.3(MKKS):c.-417-13dup rs528193828
NM_170784.3(MKKS):c.-649+2202_-649+2204dup rs143825746
NM_170784.3(MKKS):c.-649+2238A>T rs541967798
NM_170784.3(MKKS):c.-649+2292del rs566962031
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly) rs746696111
NM_170784.3(MKKS):c.1307A>T (p.Asp436Val) rs746696111
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu) rs2064834350
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser) rs554429487
NM_170784.3(MKKS):c.1702G>C (p.Asp568His) rs886056497
NM_170784.3(MKKS):c.180C>T (p.Ser60=) rs2064909876
NM_170784.3(MKKS):c.329G>T (p.Gly110Val) rs2064907691
NM_170784.3(MKKS):c.82G>C (p.Val28Leu) rs368653529
NM_176824.3(BBS7):c.*1161A>G rs918127402
NM_176824.3(BBS7):c.*1209_*1211del rs886059048
NM_176824.3(BBS7):c.*273T>C rs190252263
NM_176824.3(BBS7):c.*304A>C rs886059052
NM_176824.3(BBS7):c.*729del rs3217754
NM_176824.3(BBS7):c.*828A>G rs879827169
NM_176824.3(BBS7):c.-98C>T rs546649349
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr) rs542274936
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly) rs1560643809
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe) rs1725011147
NM_176824.3(BBS7):c.1890+15C>T rs761350391
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe) rs1726975256
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser) rs370690441
NM_176824.3(BBS7):c.587A>G (p.His196Arg) rs886059054
NM_176824.3(BBS7):c.600C>T (p.Gly200=) rs370053625
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg) rs1726155956
NM_177976.3(ARL6):c.-371A>G rs754624462
NM_178452.5(DNAAF1):c.-146G>C rs886052362
NM_178452.6(DNAAF1):c.1031-11T>G rs200286840
NM_178452.6(DNAAF1):c.1375G>A (p.Asp459Asn) rs2088254503
NM_178452.6(DNAAF1):c.1528+13G>A rs886052369
NM_178452.6(DNAAF1):c.1573G>A (p.Glu525Lys) rs886052370
NM_178452.6(DNAAF1):c.1728C>T (p.Ile576=) rs886052371
NM_178452.6(DNAAF1):c.181C>G (p.Gln61Glu) rs886052366
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup) rs776738547
NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr) rs200440212
NM_178452.6(DNAAF1):c.312T>G (p.Ile104Met) rs372390124
NM_178452.6(DNAAF1):c.362G>A (p.Arg121His) rs34897947
NM_178452.6(DNAAF1):c.514C>G (p.Leu172Val) rs886052367
NM_178452.6(DNAAF1):c.65C>T (p.Pro22Leu) rs923568355
NM_178452.6(DNAAF1):c.684G>A (p.Ser228=) rs200109125
NM_178452.6(DNAAF1):c.733C>T (p.Pro245Ser) rs747310581
NM_178452.6(DNAAF1):c.995A>C (p.Glu332Ala) rs886052368
NM_181426.1(CCDC39):c.-111C>T rs769812639
NM_181426.2(CCDC39):c.*161T>A rs886058195
NM_181426.2(CCDC39):c.*325C>A rs73883902
NM_181426.2(CCDC39):c.*373G>A rs537322164
NM_181426.2(CCDC39):c.*529_*530insACC rs886058193
NM_181426.2(CCDC39):c.*529dup rs1553800565
NM_181426.2(CCDC39):c.*530_*532dup rs886058192
NM_181426.2(CCDC39):c.*531_*532dup rs886058192
NM_181426.2(CCDC39):c.*532dup rs886058192
NM_181426.2(CCDC39):c.*533A>C rs1199364753
NM_181426.2(CCDC39):c.*538A>C rs1275919577
NM_181426.2(CCDC39):c.*539C>A rs886058191
NM_181426.2(CCDC39):c.*545dup rs886058190
NM_181426.2(CCDC39):c.*802AGT[1] rs886058189
NM_181426.2(CCDC39):c.1285T>C (p.Ser429Pro) rs1718118993
NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg) rs6769457
NM_181426.2(CCDC39):c.1363-13del rs374074877
NM_181426.2(CCDC39):c.1363-23dup rs374074877
NM_181426.2(CCDC39):c.2152C>T (p.Pro718Ser) rs1292113274
NM_181426.2(CCDC39):c.2357G>T (p.Ser786Ile) rs1051907452
NM_181426.2(CCDC39):c.2358_2359del (p.Ser786fs) rs1157054989
NM_181426.2(CCDC39):c.2407-8A>T rs769021943
NM_181426.2(CCDC39):c.2408G>A (p.Cys803Tyr) rs561458801
NM_181426.2(CCDC39):c.2526A>G (p.Leu842=) rs1717252361
NM_181426.2(CCDC39):c.2715A>G (p.Lys905=) rs886058198
NM_181426.2(CCDC39):c.2800G>A (p.Val934Ile) rs886058197
NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp) rs61733582
NM_181426.2(CCDC39):c.425C>T (p.Ala142Val) rs1711721023
NM_181426.2(CCDC39):c.516+11A>T rs1436542350
NM_181426.2(CCDC39):c.640C>T (p.Arg214Cys) rs749794148
NM_181426.2(CCDC39):c.654T>C (p.Asn218=) rs886058199
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_198428.3(BBS9):c.*323A>G rs1864473091
NM_198428.3(BBS9):c.*729C>T rs1864525540
NM_198428.3(BBS9):c.*778_*780dup rs886062289
NM_198428.3(BBS9):c.-228T>G rs771734972
NM_198428.3(BBS9):c.-37dup rs886062282
NM_198428.3(BBS9):c.-408T>G rs886062279
NM_198428.3(BBS9):c.-456G>A rs886062277
NM_198428.3(BBS9):c.1052A>T (p.Asp351Val) rs1815378459
NM_198428.3(BBS9):c.1130A>G (p.Asn377Ser) rs886062285
NM_198428.3(BBS9):c.1535C>T (p.Thr512Ile) rs886062286
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1870_1872del (p.Phe624del) rs1302171532
NM_198428.3(BBS9):c.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr) rs772347593
NM_198428.3(BBS9):c.2404C>T (p.Pro802Ser) rs886062288
NM_198428.3(BBS9):c.385C>T (p.His129Tyr) rs886062284
NM_198525.3(KIF7):c.*133G>T rs762353041
NM_198525.3(KIF7):c.*191T>A rs559070002
NM_198525.3(KIF7):c.*381G>A rs138875667
NM_198525.3(KIF7):c.-68G>A rs537046990
NM_198525.3(KIF7):c.-75G>A rs886051545
NM_198525.3(KIF7):c.1221C>T (p.Ala407=) rs886051535
NM_198525.3(KIF7):c.1319T>A (p.Val440Glu) rs1964055538
NM_198525.3(KIF7):c.1358C>T (p.Ala453Val) rs886051532
NM_198525.3(KIF7):c.175G>C (p.Val59Leu) rs369404071
NM_198525.3(KIF7):c.1832A>G (p.Glu611Gly) rs993149094
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.2059C>A (p.Arg687=) rs138736028
NM_198525.3(KIF7):c.2079C>T (p.Val693=) rs113112856
NM_198525.3(KIF7):c.2235C>T (p.Ile745=) rs886051531
NM_198525.3(KIF7):c.2296C>G (p.Leu766Val) rs1439862748
NM_198525.3(KIF7):c.2337G>A (p.Glu779=) rs202089770
NM_198525.3(KIF7):c.2341T>C (p.Ser781Pro) rs886051530
NM_198525.3(KIF7):c.2421G>A (p.Thr807=) rs141497185
NM_198525.3(KIF7):c.2592+11C>A rs78199895
NM_198525.3(KIF7):c.2592+11C>T rs78199895
NM_198525.3(KIF7):c.2599G>T (p.Glu867Ter) rs1328669185
NM_198525.3(KIF7):c.259A>G (p.Asn87Asp) rs147947221
NM_198525.3(KIF7):c.2748C>G (p.Asp916Glu) rs746321431
NM_198525.3(KIF7):c.2776C>T (p.Arg926Trp) rs147407072
NM_198525.3(KIF7):c.2862G>C (p.Thr954=) rs1436327620
NM_198525.3(KIF7):c.3319-13G>A rs371154050
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.3519C>T (p.Asp1173=) rs778389919
NM_198525.3(KIF7):c.3637G>A (p.Gly1213Ser) rs143316368
NM_198525.3(KIF7):c.3992C>G (p.Ala1331Gly) rs1363015734
NM_198525.3(KIF7):c.405C>A (p.Asp135Glu) rs886051543
NM_198525.3(KIF7):c.418C>T (p.Leu140=) rs756117745
NM_198525.3(KIF7):c.479G>A (p.Gly160Asp) rs1432505645
NM_198525.3(KIF7):c.960G>A (p.Thr320=) rs886051538
NM_213607.2(CCDC103):c.-150A>G rs886053011
NM_213607.3(CCDC103):c.*584G>A rs1263335251
NM_213607.3(CCDC103):c.-113G>A rs148582322
NM_213607.3(CCDC103):c.-74G>C rs886053012
NM_213607.3(CCDC103):c.606C>A (p.Gly202=) rs763062802

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.