ClinVar Miner

List of variants studied for short rib dysplasia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1534
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HGVS dbSNP gnomAD frequency
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_001199397.3(NEK1):c.*165G>A rs4692721 0.91298
NM_153717.3(EVC):c.*2417T>C rs6848370 0.75819
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592 0.64171
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_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804 0.59243
NM_153717.3(EVC):c.*931T>C rs6840435 0.56030
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913 0.54510
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_025132.4(WDR19):c.*229C>T rs7564 0.52060
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417 0.51079
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_002381.5(MATN3):c.*176C>T rs7569975 0.44939
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_153717.3(EVC):c.*2617G>A rs3733186 0.41865
NM_153717.3(EVC):c.*2713C>T rs3733188 0.41663
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387 0.39966
NM_001199397.3(NEK1):c.*495T>C rs1129694 0.37477
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_014714.4(IFT140):c.*59T>C rs1053730 0.34440
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
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_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_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_153717.3(EVC):c.*2268G>A rs4261923 0.25768
NM_020779.4(WDR35):c.*523G>A rs957614 0.25621
NM_020779.4(WDR35):c.*231C>A rs1056233 0.25618
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_024753.5(TTC21B):c.*1105G>T rs6756388 0.23631
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_153717.3(EVC):c.*1318G>C rs67547790 0.21091
NM_153717.3(EVC):c.*1112T>C rs28460555 0.20666
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=) rs12574626 0.19492
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_014714.4(IFT140):c.635-12G>C rs12447357 0.18304
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_020800.3(IFT80):c.1926+13T>C rs3737214 0.17528
NM_001199397.3(NEK1):c.*710A>G rs13212 0.17144
NM_024753.5(TTC21B):c.*517G>A rs77199262 0.16849
NM_024753.5(TTC21B):c.*531A>G rs56115495 0.16645
NM_020800.3(IFT80):c.*42G>A rs16831149 0.16470
NM_153717.3(EVC):c.*748T>C rs62297707 0.13967
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663 0.13559
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_153717.3(EVC):c.*210C>A rs16837692 0.13049
NM_153717.3(EVC):c.*1218C>T rs12501119 0.13032
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_153717.3(EVC):c.*3165T>C rs3755847 0.12593
NM_153717.3(EVC):c.*2680G>A rs3733187 0.12188
NM_153717.3(EVC):c.*2871C>T rs3733189 0.12083
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
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_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584 0.10418
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_001199397.3(NEK1):c.2255A>G (p.Glu752Gly) rs34099167 0.09622
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_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_020779.4(WDR35):c.*2463C>T rs3731661 0.07941
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_001199397.3(NEK1):c.1068G>A (p.Arg356=) rs17055010 0.07760
NM_001199397.3(NEK1):c.-528G>A rs75976017 0.07715
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_001199397.3(NEK1):c.607-3T>C rs55679731 0.07330
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
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_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_001199397.3(NEK1):c.1146T>C (p.Ile382=) rs56064008 0.06017
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=) rs17544885 0.05849
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
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_003239.5(TGFB3):c.-614C>T rs11466414 0.04715
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_020779.4(WDR35):c.*1127A>G rs75503594 0.04161
NM_024753.5(TTC21B):c.2211+13A>G rs73969727 0.04080
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_153717.3(EVC):c.*908G>A rs13119698 0.03897
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_020779.4(WDR35):c.*2957G>A rs76072774 0.03646
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279 0.03138
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_024753.5(TTC21B):c.*105G>A rs74548052 0.02812
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
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_052985.3(IFT122):c.-206A>G rs3138334 0.02635
NM_153717.3(EVC):c.*1060A>C rs71599848 0.02627
NM_014714.4(IFT140):c.492-14G>A rs75359189 0.02409
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424 0.02371
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn) rs61742753 0.02347
NM_153717.3(EVC):c.*1375A>G rs114994758 0.02309
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
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_014714.4(IFT140):c.839G>A (p.Arg280Gln) rs35404373 0.02210
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser) rs34900355 0.02198
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_020779.4(WDR35):c.*2836C>T rs74469198 0.02096
NM_153717.3(EVC):c.*1083T>G rs71599850 0.02002
NM_020800.3(IFT80):c.-40C>T rs79756374 0.01997
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) rs8058674 0.01985
NM_020779.4(WDR35):c.*2408G>C rs112569580 0.01898
NM_014714.4(IFT140):c.2454C>T (p.Asp818=) rs34668993 0.01885
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
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_153717.3(EVC):c.*2277G>C rs28452978 0.01778
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr) rs79494390 0.01709
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01688
NM_153717.3(EVC):c.*1849C>G rs75438311 0.01645
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_153717.3(EVC):c.*615C>T rs73079505 0.01604
NM_001377.3(DYNC2H1):c.*265C>T rs78537620 0.01600
NM_001199397.3(NEK1):c.2764+12T>A rs77658514 0.01594
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
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_153717.3(EVC):c.*1123A>G rs112378896 0.01481
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_001377.3(DYNC2H1):c.-94G>T rs114993913 0.01448
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_020779.4(WDR35):c.*1129C>T rs76845713 0.01385
NM_020779.4(WDR35):c.*2315G>C rs72779355 0.01383
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_001199397.3(NEK1):c.*154G>A rs139328912 0.01356
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_003239.5(TGFB3):c.-543T>A rs74448762 0.01331
NM_020779.4(WDR35):c.*553G>T rs79153401 0.01323
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263 0.01269
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_153717.3(EVC):c.*1700C>T rs74690944 0.01179
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
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_014714.4(IFT140):c.3990G>A (p.Ala1330=) rs61745103 0.01137
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489 0.01113
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_001199397.3(NEK1):c.-488C>T rs62334514 0.01094
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_020779.4(WDR35):c.*1575_*1576dup rs202074829 0.01057
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_024753.5(TTC21B):c.*974C>G rs145794135 0.01001
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
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_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_012224.2(NEK1):c.-640T>G rs549272215 0.00924
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
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_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) rs16822802 0.00798
NM_147127.5(EVC2):c.*394A>G rs138063943 0.00784
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_153717.3(EVC):c.*922G>A rs71599840 0.00749
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_014714.4(IFT140):c.*63A>G rs149678731 0.00706
NM_014714.4(IFT140):c.322G>A (p.Val108Met) rs146128830 0.00695
NM_052985.3(IFT122):c.-210C>A rs148987764 0.00690
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556 0.00689
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_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696 0.00622
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
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_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858 0.00606
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val) rs151156076 0.00599
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
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_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571 0.00555
NM_014714.4(IFT140):c.1524+3A>G rs149791451 0.00552
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_020779.4(WDR35):c.*531T>A rs187092318 0.00530
NM_153717.3(EVC):c.*2132A>G rs11939264 0.00524
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.*2126T>G rs191415414 0.00444
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_024753.5(TTC21B):c.*1225C>T rs60399987 0.00424
NM_153717.3(EVC):c.*2708G>A rs79112570 0.00424
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_153717.3(EVC):c.*1136T>C rs71599852 0.00394
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
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_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_001199397.3(NEK1):c.*551A>T rs181225797 0.00360
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_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_153717.3(EVC):c.*2285C>G rs145479436 0.00352
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_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00327
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_153717.3(EVC):c.-35C>A rs546318095 0.00314
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_153717.3(EVC):c.*1185A>G rs113728951 0.00308
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=) rs140408058 0.00301
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 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_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_020779.4(WDR35):c.*813A>T rs148210550 0.00290
NM_153717.3(EVC):c.-36G>A rs577263762 0.00288
NM_147127.5(EVC2):c.*90C>T rs115810595 0.00287
NM_153717.3(EVC):c.*491C>T rs114993332 0.00287
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_153717.3(EVC):c.*2692G>T rs149155153 0.00279
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_147127.5(EVC2):c.*207A>G rs73072282 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
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_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_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335 0.00236
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg) rs137995818 0.00236
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_153717.3(EVC):c.*1248T>G rs559890176 0.00230
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_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415 0.00224
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_014714.4(IFT140):c.3874-11C>T rs199887622 0.00220
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_001199397.3(NEK1):c.975A>G (p.Gly325=) rs150904906 0.00218
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_024753.5(TTC21B):c.*1087A>T rs150328867 0.00213
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
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_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_001377.3(DYNC2H1):c.*388A>T rs113577674 0.00192
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_001199397.3(NEK1):c.1581T>C (p.Ala527=) rs184804243 0.00188
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) rs59912693 0.00184
NM_020779.4(WDR35):c.*997T>C rs536197643 0.00183
NM_153717.3(EVC):c.*1243A>G rs111984543 0.00173
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
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_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_020779.4(WDR35):c.*1582C>T rs757203175 0.00162
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_020779.4(WDR35):c.*1681A>G rs188310451 0.00158
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815 0.00156
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_001199397.3(NEK1):c.*156C>T rs886059224 0.00153
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_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_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_020779.4(WDR35):c.*601A>G rs182037850 0.00146
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_153717.3(EVC):c.*971C>G rs13121258 0.00145
NM_020779.4(WDR35):c.*2160T>C rs192966128 0.00144
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_153717.3(EVC):c.*1288T>C rs1280696850 0.00134
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
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_020779.4(WDR35):c.*2623T>C rs538967974 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_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480 0.00120
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812 0.00118
NM_020779.4(WDR35):c.*2622A>G rs558837510 0.00116
NM_153717.3(EVC):c.*2493A>G rs188345323 0.00114
NM_014714.4(IFT140):c.-4C>T rs140403660 0.00112
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met) rs202189990 0.00109
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_020800.3(IFT80):c.*767G>C rs146492619 0.00102
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) rs187332731 0.00101
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_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_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_014714.4(IFT140):c.1824A>G (p.Thr608=) rs35433680 0.00094
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_024753.4(TTC21B):c.-107C>T rs545898884 0.00091
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 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_020800.3(IFT80):c.*108A>G rs180992676 0.00088
NM_001377.3(DYNC2H1):c.1134+8A>G rs138290301 0.00086
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) rs141392067 0.00086
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_001377.3(DYNC2H1):c.*211A>G rs148091830 0.00083
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_153717.3(EVC):c.*1976C>T rs56333422 0.00082
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) rs141993139 0.00081
NM_014714.4(IFT140):c.1788T>C (p.Asp596=) rs148904634 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_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) rs375307767 0.00077
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00077
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala) rs144140226 0.00077
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_001199397.3(NEK1):c.*658A>G rs185294844 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_153717.3(EVC):c.*994C>T rs547970729 0.00071
NM_020800.2(IFT80):c.-183C>T rs545378240 0.00070
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310 0.00069
NM_020779.4(WDR35):c.*2620G>A rs545271105 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_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_020779.4(WDR35):c.*2797G>A rs528776835 0.00066
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000 0.00064
NM_020779.4(WDR35):c.*2619C>T rs565144558 0.00064
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 0.00063
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys) rs61737748 0.00062
NM_153717.3(EVC):c.*263T>C rs575488876 0.00061
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_001377.3(DYNC2H1):c.12039+15A>G rs184350782 0.00059
NM_024753.5(TTC21B):c.*847A>C rs138656848 0.00058
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
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_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=) rs367841359 0.00055
NM_153717.3(EVC):c.*1592C>T rs193184679 0.00055
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_025132.4(WDR19):c.3918-6A>C rs199546190 0.00053
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816 0.00052
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_014714.4(IFT140):c.*153C>T rs760987640 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_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) rs200326353 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_020800.3(IFT80):c.*887T>C rs537207877 0.00050
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) rs145926679 0.00050
NM_153717.3(EVC):c.*709T>C rs183727253 0.00049
NM_014714.4(IFT140):c.1593G>T (p.Gly531=) rs143491016 0.00048
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_153717.3(EVC):c.*3161A>C rs550678702 0.00048
NM_024753.5(TTC21B):c.*516C>T rs185578095 0.00047
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
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_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852 0.00044
NM_153717.3(EVC):c.*1069A>G rs13147953 0.00044
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_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_025132.4(WDR19):c.*106T>G rs147600266 0.00043
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335 0.00042
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser) rs199897162 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_153717.3(EVC):c.*2310G>A rs539844915 0.00041
NM_014714.4(IFT140):c.*235C>A rs184405274 0.00040
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570 0.00039
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681 0.00039
NM_025132.4(WDR19):c.*152G>A rs533059483 0.00039
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 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_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=) rs201953670 0.00038
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766 0.00038
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 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_014714.4(IFT140):c.3861C>T (p.Asp1287=) rs143899594 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_020779.4(WDR35):c.*763T>C rs560228088 0.00036
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_001199397.3(NEK1):c.*107A>G rs767808092 0.00035
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_014714.4(IFT140):c.369+12C>T rs192986766 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_052989.3(IFT122):c.1553G>A (p.Arg518His) rs138223055 0.00034
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_153717.3(EVC):c.*2125T>G rs139771274 0.00033
NM_014714.4(IFT140):c.1360-14G>A rs369246649 0.00032
NM_024753.5(TTC21B):c.*473C>G rs763021259 0.00032
NM_052989.3(IFT122):c.2643C>T (p.Ala881=) rs150055466 0.00032
NM_014714.4(IFT140):c.2586C>T (p.Ala862=) rs148557575 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_025132.4(WDR19):c.2239A>G (p.Ile747Val) rs144335584 0.00031
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu) rs184910011 0.00030
NM_020779.4(WDR35):c.*795C>T rs190700326 0.00030
NM_020779.4(WDR35):c.2964+10C>A rs201207790 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_001377.3(DYNC2H1):c.5335-11T>G rs181963253 0.00029
NM_025132.4(WDR19):c.1566C>T (p.Pro522=) rs200692490 0.00029
NM_001199397.3(NEK1):c.*1222T>G rs543801862 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_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646 0.00027
NM_020779.4(WDR35):c.*1413C>T rs567295822 0.00027
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_001199397.3(NEK1):c.3583+8A>C rs192372022 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_020779.4(WDR35):c.*807T>C rs555257043 0.00026
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230 0.00026
NM_014714.4(IFT140):c.*2G>A rs144879630 0.00025
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=) rs146569517 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_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) rs142887208 0.00024
NM_025132.4(WDR19):c.3484-15T>C rs376870184 0.00024
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His) rs149029829 0.00024
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
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_014714.4(IFT140):c.3271-4G>A rs200815296 0.00021
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_020779.4(WDR35):c.*1370G>A rs1039776865 0.00021
NM_024753.4(TTC21B):c.-94C>T rs563836188 0.00021
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 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_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711 0.00020
NM_001199397.3(NEK1):c.*996G>A rs868452742 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_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866 0.00019
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) rs140196566 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_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 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_024753.5(TTC21B):c.-18C>T rs187707893 0.00018
NM_001199397.3(NEK1):c.-504T>C rs550632789 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_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_153717.3(EVC):c.*1573T>A rs958649706 0.00017
NM_001199397.3(NEK1):c.*494A>G rs532868932 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_014714.4(IFT140):c.-317T>A rs866146909 0.00016
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016
NM_020779.4(WDR35):c.*1062G>A rs778834686 0.00016
NM_020800.3(IFT80):c.912G>A (p.Glu304=) rs199575501 0.00016
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val) rs756913474 0.00016
NM_052989.3(IFT122):c.1009-14C>T rs202155515 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_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494 0.00015
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val) rs370951527 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_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_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys) rs146277966 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_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 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_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_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_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 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_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_001199397.3(NEK1):c.*459A>C rs1038930121 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_014714.4(IFT140):c.2768+12C>T rs756491638 0.00012
NM_020800.2(IFT80):c.-392T>G rs886058139 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_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001199397.3(NEK1):c.912T>C (p.Pro304=) rs139433990 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_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_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_024753.5(TTC21B):c.*424A>G rs117664297 0.00011
NM_024753.5(TTC21B):c.*910C>T rs745335688 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_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 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_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_001199397.3(NEK1):c.*641T>C rs960594763 0.00010
NM_001199397.3(NEK1):c.642G>A (p.Lys214=) rs369725706 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_014714.4(IFT140):c.*118G>A rs372303683 0.00010
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp) rs749099710 0.00010
NM_020800.2(IFT80):c.-410G>T rs113776466 0.00010
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe) rs140323384 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_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 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_001199397.3(NEK1):c.2421C>T (p.Phe807=) rs56346829 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_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_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_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_025132.4(WDR19):c.2364-15T>C rs771036360 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 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_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_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_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_024753.5(TTC21B):c.795+3A>G rs753275145 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_052989.3(IFT122):c.-3G>A rs367704478 0.00008
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.2721G>A (p.Ala907=) rs371570973 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723 0.00008
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg) rs200743695 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_001199397.3(NEK1):c.1140+4G>A rs369300755 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_014714.4(IFT140):c.1010-10C>T rs376722338 0.00007
NM_014714.4(IFT140):c.1653-14C>T rs148433720 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_024753.5(TTC21B):c.876A>G (p.Thr292=) rs185247361 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_153717.3(EVC):c.*662G>A rs866110948 0.00007
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly) rs540660500 0.00007
NM_001199397.3(NEK1):c.3750T>C (p.Ile1250=) rs886059225 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_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_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_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_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp) rs139079256 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His) rs576743578 0.00006
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys) rs771499492 0.00006
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_052989.3(IFT122):c.783G>A (p.Gln261=) rs144727222 0.00006
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys) rs144270330 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_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_001199397.3(NEK1):c.-499G>C rs763112279 0.00005
NM_001199397.3(NEK1):c.1427A>G (p.Glu476Gly) rs765781871 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_014714.4(IFT140):c.2817G>A (p.Ser939=) rs373651150 0.00005
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 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.1205G>A (p.Arg402His) rs147955112 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_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_025132.4(WDR19):c.1173C>T (p.Asn391=) rs777985189 0.00005
NM_052989.3(IFT122):c.228C>T (p.Ser76=) rs772835552 0.00005
NM_052989.3(IFT122):c.54C>T (p.Ile18=) rs139138308 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 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_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_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_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_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_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_020800.3(IFT80):c.634T>C (p.Tyr212His) rs756009771 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_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.2577G>A (p.Ala859=) rs753596825 0.00004
NM_052985.3(IFT122):c.-145T>A rs923805618 0.00004
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.273-260T>C rs369997431 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu) rs368574590 0.00004
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser) rs754782458 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_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_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_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.8780C>T (p.Thr2927Met) rs752196931 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_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.1636C>T (p.Arg546Cys) rs549077153 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_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_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_052989.3(IFT122):c.*16C>T rs763993447 0.00003
NM_052989.3(IFT122):c.2389G>A (p.Ala797Thr) rs376362722 0.00003
NM_052989.3(IFT122):c.2840G>A (p.Arg947His) rs760810819 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.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_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_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_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.12854A>G (p.Asp4285Gly) rs886047583 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_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.2423C>T (p.Ala808Val) rs748463111 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_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_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_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_052989.3(IFT122):c.2393G>A (p.Arg798His) rs755677495 0.00002
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys) rs773080594 0.00002
NM_052989.3(IFT122):c.3154-9G>A rs759975764 0.00002
NM_052989.3(IFT122):c.3252C>T (p.Ser1084=) rs775568842 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_147127.5(EVC2):c.3505C>T (p.His1169Tyr) rs747562782 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_001102564.3(IFT43):c.214_215+2del rs777112610 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_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.8473A>G (p.Ser2825Gly) rs886047569 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_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.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_020779.4(WDR35):c.*2228C>T rs1669828408 0.00001
NM_020779.4(WDR35):c.*2288C>T rs886055398 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_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_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_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.2055G>T (p.Lys685Asn) rs779236550 0.00001
NM_052989.3(IFT122):c.2138A>G (p.Tyr713Cys) rs1332128088 0.00001
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys) rs774343448 0.00001
NM_052989.3(IFT122):c.3268G>A (p.Val1090Met) rs147517019 0.00001
NM_052989.3(IFT122):c.3446C>T (p.Pro1149Leu) rs373326394 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_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_001006657.1(WDR35):c.*3299C>T rs1669790644
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.1081-8dup rs398124255
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.2323C>G (p.His775Asp) rs200610485
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.397-15del rs199717920
NM_001199397.3(NEK1):c.397-15dup rs199717920
NM_001199397.3(NEK1):c.671C>T (p.Ser224Phe) rs886059235
NM_001199397.3(NEK1):c.901T>C (p.Ser301Pro) rs777255986
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_012224.2(NEK1):c.-614C>A rs10520157
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_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.*2029GTCT[1] rs566446459
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.1753G>A (p.Val585Ile) rs748998292
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.2956A>G (p.Ser986Gly) rs886055402
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_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_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_052989.3(IFT122):c.*121G>T rs536919948
NM_052989.3(IFT122):c.*142C>G rs977256057
NM_052989.3(IFT122):c.*241C>G rs2084614746
NM_052989.3(IFT122):c.-22C>A rs551140180
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.1570G>A (p.Ala524Thr) rs2078655875
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1800C>T (p.Ser600=) rs886057965
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn) rs777051654
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_052989.3(IFT122):c.199C>A (p.Arg67Ser) rs181971625
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2304G>A (p.Val768=) rs886057966
NM_052989.3(IFT122):c.2523C>T (p.His841=) rs780586191
NM_052989.3(IFT122):c.2575G>C (p.Glu859Gln) rs2081966365
NM_052989.3(IFT122):c.2798C>A (p.Ala933Asp) rs747843863
NM_052989.3(IFT122):c.2881C>G (p.His961Asp) rs1178500227
NM_052989.3(IFT122):c.3049C>A (p.His1017Asn) rs900548596
NM_052989.3(IFT122):c.3391+6C>T rs2084139065
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro) rs1251905610
NM_052989.3(IFT122):c.3636+3A>G rs753825998
NM_052989.3(IFT122):c.3711T>C (p.Asp1237=) rs2084594582
NM_052989.3(IFT122):c.552del (p.Cys183_Trp184insTer) rs781766922
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_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

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