ClinVar Miner

List of variants reported as benign for Jeune syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 873
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HGVS dbSNP gnomAD frequency
NM_052844.4(DYNC2I2):c.178T>G (p.Trp60Gly) rs4837292 0.99672
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) rs1748971 0.99666
NM_024753.5(TTC21B):c.430-42C>T rs10930190 0.99611
NM_018051.5(DYNC2I1):c.675C>G (p.Asn225Lys) rs2709859 0.99194
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) rs1617510 0.97670
NM_001329943.3(KIAA0586):c.1254-25G>A rs1743721 0.97577
NM_001329943.3(KIAA0586):c.2254+25A>G rs1743716 0.97575
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_014714.4(IFT140):c.2768+184A>G rs2745178 0.97367
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_025132.4(WDR19):c.603+23C>T rs1451817 0.96807
NM_014714.4(IFT140):c.3270+19T>C rs2745176 0.96626
NM_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_001377.3(DYNC2H1):c.9107+34G>A rs670464 0.93561
NM_001199397.3(NEK1):c.*165G>A rs4692721 0.91298
NM_018051.5(DYNC2I1):c.2547-22_2547-21insC rs34181207 0.85394
NM_018051.5(DYNC2I1):c.2073A>G (p.Lys691=) rs2730238 0.85247
NM_052844.4(DYNC2I2):c.309T>C (p.Tyr103=) rs2298045 0.82136
NM_001199397.3(NEK1):c.2765-20G>A rs7680152 0.79844
NM_018051.5(DYNC2I1):c.2372-9C>T rs2244789 0.76494
NM_153717.3(EVC):c.*2417T>C rs6848370 0.75819
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_016004.5(IFT52):c.159G>A (p.Val53=) rs2664519 0.74971
NM_052844.4(DYNC2I2):c.873C>T (p.Thr291=) rs4837291 0.72271
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_001375405.1(CEP120):c.2826T>C (p.Asp942=) rs1047438 0.71935
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71871
NM_052844.4(DYNC2I2):c.627G>A (p.Gln209=) rs10760570 0.70085
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_014804.3(KIAA0753):c.*21A>G rs3744720 0.64487
NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg) rs1443417 0.64459
NM_014804.3(KIAA0753):c.1397T>C (p.Leu466Pro) rs2289642 0.64436
NM_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_014804.3(KIAA0753):c.1716T>C (p.Ala572=) rs4796519 0.61864
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_015693.4(INTU):c.813G>A (p.Thr271=) rs4833380 0.59996
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804 0.59243
NM_020779.4(WDR35):c.25-46G>A rs3731663 0.57247
NM_153717.3(EVC):c.*931T>C rs6840435 0.56030
NM_153717.3(EVC):c.939+63C>A rs13145958 0.55696
NM_015693.4(INTU):c.471A>G (p.Arg157=) rs3749507 0.55539
NM_001377.3(DYNC2H1):c.12156+23G>A rs2671333 0.54518
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913 0.54510
NM_153717.3(EVC):c.1098+51A>T rs4688961 0.52782
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_025132.4(WDR19):c.*229C>T rs7564 0.52060
NM_025132.4(WDR19):c.3716+46dup rs11096989 0.51347
NM_025132.4(WDR19):c.3841-27T>C rs12648082 0.51304
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417 0.51079
NM_014804.3(KIAA0753):c.1330G>A (p.Asp444Asn) rs2289643 0.49475
NM_018051.5(DYNC2I1):c.2778+36T>A rs2657331 0.48169
NM_015662.3(IFT172):c.2116-31T>C rs780107 0.47348
NM_015662.3(IFT172):c.1829+12G>A rs1647276 0.47329
NM_014714.4(IFT140):c.3454-48A>G rs932391 0.45637
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_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_001375405.1(CEP120):c.816C>T (p.His272=) rs6876883 0.44294
NM_018051.5(DYNC2I1):c.818A>G (p.Gln273Arg) rs2788478 0.43909
NM_014714.4(IFT140):c.148-22A>T rs2236269 0.43860
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_001329943.3(KIAA0586):c.4495+3795T>C rs28535751 0.42605
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_024753.5(TTC21B):c.2138+48G>A rs7590559 0.40515
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387 0.39966
NM_001375405.1(CEP120):c.1804C>G (p.Leu602Val) rs6595440 0.39494
NM_014804.3(KIAA0753):c.69C>T (p.Ser23=) rs2301873 0.38122
NM_015662.3(IFT172):c.3915T>A (p.Ser1305=) rs56076827 0.37673
NM_001199397.3(NEK1):c.*495T>C rs1129694 0.37477
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_014714.4(IFT140):c.-31-52T>A rs743963 0.36752
NM_152773.5(DYNLT2B):c.113+17C>G rs2270769 0.36200
NM_018051.5(DYNC2I1):c.2094+24A>G rs6459913 0.35665
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_001375405.1(CEP120):c.1431-9A>T rs3893854 0.34483
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_025132.4(WDR19):c.3183+16A>G rs11096987 0.33074
NM_014804.3(KIAA0753):c.1125A>T (p.Glu375Asp) rs9889363 0.32226
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_014804.3(KIAA0753):c.1697C>T (p.Pro566Leu) rs2304977 0.28533
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_153717.3(EVC):c.1563+1771A>G rs6828631 0.27419
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_014714.4(IFT140):c.4041-44T>C rs2076434 0.24775
NM_024753.5(TTC21B):c.*1105G>T rs6756388 0.23631
NM_014714.4(IFT140):c.147+109G>A rs7192480 0.23445
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_153717.3(EVC):c.939+114G>A rs28609792 0.21365
NM_153717.3(EVC):c.*1318G>C rs67547790 0.21091
NM_153717.3(EVC):c.801+240C>T rs1480169 0.20327
NM_153717.3(EVC):c.1465-47A>C rs4642178 0.20086
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_018051.5(DYNC2I1):c.1921+24A>G rs10279428 0.18135
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_153717.3(EVC):c.301-80G>A rs2276875 0.17578
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_018051.5(DYNC2I1):c.2976C>T (p.Val992=) rs34634437 0.16768
NM_024753.5(TTC21B):c.*531A>G rs56115495 0.16645
NM_001377.3(DYNC2H1):c.11256+18C>T rs11225674 0.16562
NM_153717.3(EVC):c.1563+1897C>T rs56328334 0.16475
NM_020800.3(IFT80):c.*42G>A rs16831149 0.16470
NM_001375405.1(CEP120):c.2637G>C (p.Gln879His) rs1047437 0.15997
NM_018051.5(DYNC2I1):c.1137+23T>C rs842703 0.14437
NM_153717.3(EVC):c.*748T>C rs62297707 0.13967
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_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_153717.3(EVC):c.802-15del rs369153323 0.10885
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_153717.3(EVC):c.618-121G>A rs75063475 0.09118
NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=) rs7655924 0.09091
NM_024753.4(TTC21B):c.-145G>A rs111867313 0.09068
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750 0.08745
NM_153717.3(EVC):c.384+41C>T rs113870218 0.08516
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_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_147127.5(EVC2):c.1711-20T>G rs58869180 0.07408
NM_001199397.3(NEK1):c.607-3T>C rs55679731 0.07330
NM_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_018051.5(DYNC2I1):c.490G>A (p.Val164Ile) rs78313003 0.06387
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_001375405.1(CEP120):c.2481+3100G>A rs1428387 0.04593
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_018051.5(DYNC2I1):c.2385G>A (p.Leu795=) rs61747095 0.03840
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_052844.4(DYNC2I2):c.703+20C>T rs78387565 0.03075
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_018051.5(DYNC2I1):c.2371+4C>T rs2286113 0.02993
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_018051.5(DYNC2I1):c.2395A>G (p.Ile799Val) rs61733022 0.02653
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_015662.3(IFT172):c.337-12C>T rs79529534 0.02365
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_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_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611 0.02142
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_020779.4(WDR35):c.*2836C>T rs74469198 0.02096
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_052844.4(DYNC2I2):c.187-3C>A rs12380424 0.01873
NM_147127.5(EVC2):c.3660-18C>A rs6853237 0.01859
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_052844.4(DYNC2I2):c.630G>A (p.Pro210=) rs61744155 0.01761
NM_052844.4(DYNC2I2):c.545+12C>T rs76817280 0.01758
NM_001375405.1(CEP120):c.1105C>T (p.Pro369Ser) rs61747983 0.01738
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_153717.3(EVC):c.*1083T>G rs71599850 0.01599
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_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_001377.3(DYNC2H1):c.-94G>T rs114993913 0.01448
NM_018051.5(DYNC2I1):c.1800C>T (p.Ala600=) rs41271220 0.01447
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_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_001199397.3(NEK1):c.*154G>A rs139328912 0.01356
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
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_015662.3(IFT172):c.2723G>A (p.Arg908Gln) rs61747073 0.01256
NM_018051.5(DYNC2I1):c.1791+5A>G rs41271217 0.01256
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037 0.01255
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_001329943.3(KIAA0586):c.2060-3T>C rs17094553 0.01209
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_153717.3(EVC):c.*1700C>T rs74690944 0.01179
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_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845 0.01118
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489 0.01113
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_001329943.3(KIAA0586):c.2553+11G>A rs78511804 0.01083
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645 0.01047
NM_015662.3(IFT172):c.571-15C>G rs75809198 0.01015
NM_024753.5(TTC21B):c.*974C>G rs145794135 0.01001
NM_018051.5(DYNC2I1):c.604C>G (p.Leu202Val) rs73527702 0.00999
NM_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_018051.5(DYNC2I1):c.941C>T (p.Ala314Val) rs139730326 0.00984
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_024753.5(TTC21B):c.2462-19A>C rs146509360 0.00946
NM_012224.2(NEK1):c.-640T>G rs549272215 0.00924
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_001377.3(DYNC2H1):c.4968+18G>A rs144263658 0.00894
NM_052844.4(DYNC2I2):c.1373-5T>G rs16930544 0.00891
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_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_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) rs3783697 0.00806
NM_001375405.1(CEP120):c.1431-10_1431-9del rs1491225681 0.00803
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) rs16822802 0.00798
NM_147127.5(EVC2):c.*394A>G rs138063943 0.00784
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_001377.3(DYNC2H1):c.1485+19G>A rs111375449 0.00764
NM_052844.4(DYNC2I2):c.888A>G (p.Leu296=) rs140034879 0.00761
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_001375405.1(CEP120):c.2182A>G (p.Ser728Gly) rs61744334 0.00757
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_018051.5(DYNC2I1):c.2418G>T (p.Gly806=) rs11505215 0.00726
NM_015662.3(IFT172):c.4745T>C (p.Ile1582Thr) rs61742074 0.00712
NM_014714.4(IFT140):c.322G>A (p.Val108Met) rs146128830 0.00695
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val) rs59248588 0.00694
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) rs74055693 0.00689
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_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119 0.00667
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val) rs114292876 0.00632
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_015662.3(IFT172):c.2858G>A (p.Arg953His) rs704793 0.00606
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val) rs151156076 0.00599
NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=) rs113537035 0.00594
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_018051.5(DYNC2I1):c.1685G>A (p.Ser562Asn) rs143753088 0.00545
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu) rs6828134 0.00535
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931 0.00533
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_052844.4(DYNC2I2):c.957G>A (p.Leu319=) rs75450756 0.00524
NM_153717.3(EVC):c.*2132A>G rs11939264 0.00524
NM_015662.3(IFT172):c.4428+5C>G rs114235369 0.00521
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_015662.3(IFT172):c.4659+16T>C rs143060452 0.00514
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_001375405.1(CEP120):c.362A>G (p.Lys121Arg) rs147273517 0.00512
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211 0.00501
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157 0.00485
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=) rs76833922 0.00476
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_001377.3(DYNC2H1):c.6477+14A>T rs111970770 0.00460
NM_024753.5(TTC21B):c.2950+16T>C rs142565795 0.00455
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005 0.00441
NM_153717.3(EVC):c.*2708G>A rs79112570 0.00424
NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg) rs114281792 0.00421
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe) rs114280473 0.00417
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_001375405.1(CEP120):c.2726+14A>T rs115044327 0.00396
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_020800.3(IFT80):c.*1204G>A rs144132950 0.00376
NM_052844.4(DYNC2I2):c.616C>T (p.Arg206Cys) rs148543026 0.00371
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_001377.3(DYNC2H1):c.10650A>G (p.Ser3550=) rs185562630 0.00361
NM_015662.3(IFT172):c.4540-6C>T rs146140583 0.00361
NM_020779.4(WDR35):c.2414+20C>T rs116756504 0.00361
NM_001199397.3(NEK1):c.*551A>T rs181225797 0.00360
NM_018051.5(DYNC2I1):c.2354C>T (p.Pro785Leu) rs61733021 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_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_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_015662.3(IFT172):c.3610G>C (p.Val1204Leu) rs7580439 0.00319
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=) rs61729923 0.00314
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) rs61742715 0.00313
NM_014714.4(IFT140):c.2247C>T (p.His749=) rs9930526 0.00312
NM_153717.3(EVC):c.*1185A>G rs113728951 0.00308
NM_015662.3(IFT172):c.2551G>T (p.Val851Leu) rs149748534 0.00304
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=) rs140408058 0.00301
NM_001375405.1(CEP120):c.1256-18A>G rs371950460 0.00300
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_001375405.1(CEP120):c.2145T>C (p.Thr715=) rs113911260 0.00294
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544 0.00294
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
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_018051.5(DYNC2I1):c.1791+19T>C rs199724771 0.00284
NM_020800.3(IFT80):c.1076+9C>G rs139408398 0.00283
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_014714.4(IFT140):c.492-20C>T rs149012740 0.00273
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala) rs149454830 0.00267
NM_020779.4(WDR35):c.318T>C (p.Ile106=) rs115963122 0.00263
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val) rs201715229 0.00258
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser) rs17849504 0.00244
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_015662.3(IFT172):c.3357C>T (p.His1119=) rs76787560 0.00238
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_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
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_020800.3(IFT80):c.777+20A>G rs192387448 0.00217
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_018051.5(DYNC2I1):c.1465C>G (p.Arg489Gly) rs116193143 0.00213
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_001377.3(DYNC2H1):c.6909C>T (p.Tyr2303=) rs191012679 0.00210
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198 0.00204
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291 0.00202
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_001329943.3(KIAA0586):c.4496-16C>T rs111487478 0.00195
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128 0.00193
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_018051.5(DYNC2I1):c.1922-16T>C rs141233540 0.00189
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=) rs184804243 0.00188
NM_001377.3(DYNC2H1):c.10314A>G (p.Glu3438=) rs369838929 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_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942 0.00184
NM_018051.5(DYNC2I1):c.1370C>A (p.Ser457Tyr) rs144444098 0.00182
NM_001377.3(DYNC2H1):c.1953+14T>C rs186540831 0.00180
NM_024753.5(TTC21B):c.262+16G>A rs192525886 0.00179
NM_001377.3(DYNC2H1):c.6478-17C>T rs61899765 0.00172
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_001375405.1(CEP120):c.2358+20A>G rs139462181 0.00170
NM_001377.3(DYNC2H1):c.6894-4G>A rs17100043 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_001377.3(DYNC2H1):c.1661+16T>C rs187129481 0.00164
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_014714.4(IFT140):c.4040+15C>G rs373703197 0.00160
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815 0.00156
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_018051.5(DYNC2I1):c.2397C>T (p.Ile799=) rs116197118 0.00152
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 0.00151
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 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_018051.5(DYNC2I1):c.2826G>C (p.Ala942=) rs140787294 0.00146
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_001375405.1(CEP120):c.810+7A>G rs376913078 0.00140
NM_015662.3(IFT172):c.4755+9G>C rs375261962 0.00135
NM_014714.4(IFT140):c.2067+12C>T rs201954701 0.00129
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=) rs148016417 0.00128
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=) rs201310509 0.00128
NM_020800.3(IFT80):c.550-18T>C rs150600821 0.00128
NM_014714.4(IFT140):c.1359+12G>C rs150859038 0.00125
NM_020779.4(WDR35):c.1755C>T (p.Val585=) rs146130105 0.00124
NM_018051.5(DYNC2I1):c.2793C>T (p.Asp931=) rs199624775 0.00123
NM_020779.4(WDR35):c.*2623T>C rs538967974 0.00121
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480 0.00120
NM_052844.4(DYNC2I2):c.1008C>T (p.Gly336=) rs146077746 0.00117
NM_020779.4(WDR35):c.*2622A>G rs558837510 0.00116
NM_001377.3(DYNC2H1):c.12566+17A>G rs187787132 0.00113
NM_001375405.1(CEP120):c.1764-6T>C rs376358503 0.00112
NM_001375405.1(CEP120):c.2358+14C>T rs114558677 0.00112
NM_024753.5(TTC21B):c.588T>G (p.Gly196=) rs144458105 0.00111
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met) rs202189990 0.00109
NM_001375405.1(CEP120):c.1039-19A>G rs188996721 0.00108
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_001329943.3(KIAA0586):c.1130-16A>C rs187748315 0.00105
NM_147127.5(EVC2):c.2707-13A>T rs146588799 0.00105
NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=) rs368824340 0.00102
NM_001377.3(DYNC2H1):c.3744+9C>T rs142483417 0.00101
NM_015662.3(IFT172):c.2443-19A>G rs199907803 0.00101
NM_025132.4(WDR19):c.2715G>A (p.Lys905=) rs200339331 0.00099
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_001329943.3(KIAA0586):c.200-14C>A rs373882617 0.00098
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=) rs61738360 0.00098
NM_020779.4(WDR35):c.1471-7A>G rs376388391 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_001329943.3(KIAA0586):c.340+15T>C rs139305633 0.00096
NM_020779.4(WDR35):c.142+10T>C rs186647997 0.00096
NM_024753.5(TTC21B):c.3874-14T>C rs200347449 0.00096
NM_025132.4(WDR19):c.1135-18C>G rs187658795 0.00095
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_001377.3(DYNC2H1):c.4812C>T (p.Ile1604=) rs370677208 0.00091
NM_001377.3(DYNC2H1):c.6159C>T (p.Ile2053=) rs373665655 0.00091
NM_001377.3(DYNC2H1):c.5439G>A (p.Arg1813=) rs371039240 0.00090
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NM_001377.3(DYNC2H1):c.3384C>A (p.Ala1128=) rs199935024 0.00089
NM_001377.3(DYNC2H1):c.5559-6T>C rs369043863 0.00089
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_052844.4(DYNC2I2):c.1116G>A (p.Thr372=) rs138690108 0.00088
NM_001377.3(DYNC2H1):c.1134+8A>G rs138290301 0.00086
NM_001377.3(DYNC2H1):c.*211A>G rs148091830 0.00083
NM_015662.3(IFT172):c.402+8A>C rs184565714 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_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323 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_025132.4(WDR19):c.2364-3del rs757992911 0.00079
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00079
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00077
NM_015662.3(IFT172):c.5161-20G>A rs372154058 0.00076
NM_025132.4(WDR19):c.3261+12G>A rs137960733 0.00076
NM_014714.4(IFT140):c.1667A>G (p.His556Arg) rs137925718 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_020779.4(WDR35):c.1401-15T>G rs201903683 0.00068
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_001199397.3(NEK1):c.618C>A (p.Gly206=) rs373174833 0.00066
NM_001375405.1(CEP120):c.1671G>A (p.Leu557=) rs75289011 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_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 0.00063
NM_001377.3(DYNC2H1):c.7708+9A>G rs375081757 0.00063
NM_001329943.3(KIAA0586):c.1583+15G>A rs201295491 0.00061
NM_014714.4(IFT140):c.1084G>A (p.Gly362Arg) rs182052267 0.00061
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile) rs143491198 0.00061
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_147127.5(EVC2):c.1287T>C (p.Ser429=) rs148775651 0.00059
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_018051.5(DYNC2I1):c.3081T>C (p.Ser1027=) rs182098988 0.00056
NM_018051.5(DYNC2I1):c.519T>C (p.Asp173=) rs76115834 0.00056
NM_020779.4(WDR35):c.*487C>T rs116951767 0.00056
NM_001329943.3(KIAA0586):c.2944+8A>C rs571616049 0.00054
NM_020800.3(IFT80):c.60G>A (p.Val20=) rs201088893 0.00051
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327 0.00051
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) rs200326353 0.00050
NM_014714.4(IFT140):c.2756G>A (p.Arg919Gln) rs201851204 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) rs146065418 0.00048
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_015662.3(IFT172):c.4933G>A (p.Val1645Ile) rs149117098 0.00046
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_001329943.3(KIAA0586):c.1129+11del rs142477754 0.00040
NM_014714.4(IFT140):c.*235C>A rs184405274 0.00040
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620 0.00039
NM_014714.4(IFT140):c.3661-18C>T rs575501010 0.00039
NM_018051.5(DYNC2I1):c.2985G>A (p.Gln995=) rs534300999 0.00039
NM_014714.4(IFT140):c.2829G>A (p.Pro943=) rs141779807 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=) rs536603405 0.00037
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=) rs143899594 0.00037
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_052844.4(DYNC2I2):c.420C>T (p.Thr140=) rs541654387 0.00036
NM_015662.3(IFT172):c.3474C>T (p.Phe1158=) rs534566990 0.00035
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_001375405.1(CEP120):c.1431-11_1431-9del rs776090638 0.00033
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_052844.4(DYNC2I2):c.1350T>A (p.Val450=) rs200052239 0.00033
NM_014714.4(IFT140):c.1360-14G>A rs369246649 0.00032
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469 0.00031
NM_014714.4(IFT140):c.2768+18G>A rs143663088 0.00030
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302 0.00029
NM_052844.4(DYNC2I2):c.1425G>C (p.Leu475Phe) rs200702768 0.00028
NM_014714.4(IFT140):c.1422A>G (p.Ile474Met) rs559293157 0.00027
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646 0.00027
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902 0.00026
NM_015662.3(IFT172):c.3951+14G>T rs376690357 0.00026
NM_018051.5(DYNC2I1):c.2538G>C (p.Leu846Phe) rs201839458 0.00026
NM_015662.3(IFT172):c.3711+3G>A rs202055593 0.00024
NM_001377.3(DYNC2H1):c.11670A>G (p.Glu3890=) rs368459657 0.00023
NM_015662.3(IFT172):c.3594T>C (p.Ser1198=) rs775374622 0.00023
NM_018051.5(DYNC2I1):c.3118G>A (p.Ala1040Thr) rs539815300 0.00023
NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=) rs377584612 0.00021
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942 0.00021
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955 0.00020
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) rs201863754 0.00019
NM_015662.3(IFT172):c.4815+9G>A rs199667794 0.00019
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_001377.3(DYNC2H1):c.12457-13T>C rs537890566 0.00017
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=) rs144553338 0.00016
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys) rs147844088 0.00015
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=) rs143671920 0.00015
NM_001377.3(DYNC2H1):c.11904C>T (p.Ser3968=) rs767613863 0.00014
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr) rs748268896 0.00014
NM_153717.3(EVC):c.940-12C>G rs200707006 0.00014
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00013
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384 0.00013
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=) rs554948147 0.00011
NM_001377.3(DYNC2H1):c.8271A>G (p.Gln2757=) rs183652156 0.00011
NM_014714.4(IFT140):c.3874-10A>C rs761503137 0.00011
NM_018051.5(DYNC2I1):c.1461-14A>C rs780344639 0.00011
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757 0.00011
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_020779.4(WDR35):c.2835A>G (p.Glu945=) rs182928585 0.00010
NM_001377.3(DYNC2H1):c.11677T>C (p.Leu3893=) rs190141107 0.00009
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val) rs139902197 0.00009
NM_018051.5(DYNC2I1):c.3045T>C (p.Gly1015=) rs377462355 0.00009
NM_024753.5(TTC21B):c.783G>T (p.Gly261=) rs200255917 0.00009
NM_052844.4(DYNC2I2):c.477G>A (p.Ala159=) rs186228177 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_001199397.3(NEK1):c.1080+20G>A rs192292678 0.00008
NM_001377.3(DYNC2H1):c.4968+7G>A rs186890804 0.00008
NM_020779.4(WDR35):c.867C>T (p.Tyr289=) rs185888517 0.00008
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_014714.4(IFT140):c.1653-14C>T rs148433720 0.00007
NM_025132.4(WDR19):c.3261+20C>T rs547317070 0.00007
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006
NM_001375405.1(CEP120):c.610C>A (p.Gln204Lys) rs548355953 0.00006
NM_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 0.00006
NM_018051.5(DYNC2I1):c.2257+10A>G rs747339634 0.00006
NM_153717.3(EVC):c.*2466G>A rs572400824 0.00006
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=) rs199982600 0.00005
NM_001375405.1(CEP120):c.322-8T>C rs189324274 0.00005
NM_001377.3(DYNC2H1):c.12457-9C>T rs182352576 0.00005
NM_014714.4(IFT140):c.1200C>T (p.Ser400=) rs778020037 0.00005
NM_014714.4(IFT140):c.2493C>T (p.Arg831=) rs745477833 0.00005
NM_014714.4(IFT140):c.594G>A (p.Gly198=) rs754896534 0.00005
NM_015662.3(IFT172):c.4990C>T (p.Arg1664Trp) rs139348179 0.00005
NM_147127.5(EVC2):c.209G>T (p.Gly70Val) rs754380041 0.00005
NM_001199397.3(NEK1):c.2587+14G>T rs368032168 0.00004
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724 0.00004
NM_014714.4(IFT140):c.2400-13C>T rs558510749 0.00004
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=) rs528573485 0.00004
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=) rs368713443 0.00004
NM_015662.3(IFT172):c.4628C>T (p.Thr1543Met) rs571220836 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_052844.4(DYNC2I2):c.738C>T (p.Asp246=) rs200687172 0.00004
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_147127.5(EVC2):c.1146-5C>G rs746188195 0.00004
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=) rs372719753 0.00004
NM_153717.3(EVC):c.*1648T>C rs371788560 0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00004
NM_001199397.3(NEK1):c.1424C>G (p.Pro475Arg) rs369081861 0.00003
NM_020800.3(IFT80):c.549+16T>C rs554487138 0.00003
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) rs368202285 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_052844.4(DYNC2I2):c.1326C>T (p.Arg442=) rs201202295 0.00003
NM_153717.3(EVC):c.771A>G (p.Leu257=) rs756340487 0.00003
NM_018051.5(DYNC2I1):c.1792-7C>A rs548044469 0.00002
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_001199397.3(NEK1):c.1141-14T>C rs551259813 0.00001
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr) rs577165880 0.00001
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys) rs543224510 0.00001
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=) rs574658488 0.00001
NM_001329943.3(KIAA0586):c.4495+3802G>A rs541632685 0.00001
NM_001377.3(DYNC2H1):c.5335-14A>G rs372488002 0.00001
NM_001377.3(DYNC2H1):c.8946+10A>C rs550521675 0.00001
NM_020779.4(WDR35):c.1845+16G>A rs376710057 0.00001
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu) rs184680258 0.00001
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) rs554335278 0.00001
NM_020800.3(IFT80):c.259+18A>G rs555123804 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) rs568969576 0.00001
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00001
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001199397.3(NEK1):c.2206-11G>A
NM_001199397.3(NEK1):c.2588-12_2588-11del rs374055570
NM_001199397.3(NEK1):c.3374+10A>T
NM_001199397.3(NEK1):c.3848-14dup rs1171520560
NM_001199397.3(NEK1):c.397-15del rs199717920
NM_001199397.3(NEK1):c.397-15dup rs199717920
NM_001199397.3(NEK1):c.807+18T>C
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1584-5del
NM_001329943.3(KIAA0586):c.199+23del rs537837939
NM_001329943.3(KIAA0586):c.2944+24dup rs768128741
NM_001329943.3(KIAA0586):c.2945-9del
NM_001329943.3(KIAA0586):c.3144+15del
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.340+25dup rs770708728
NM_001329943.3(KIAA0586):c.340+6del
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=)
NM_001329943.3(KIAA0586):c.962-10dup rs1431902070
NM_001375405.1(CEP120):c.1039-3del
NM_001375405.1(CEP120):c.1431-11_1431-10dup
NM_001375405.1(CEP120):c.1431-7del rs34328840
NM_001375405.1(CEP120):c.1431-9_1431-8insTTTTTTTTTTTT rs1562047830
NM_001375405.1(CEP120):c.1854A>C (p.Ser618=) rs140836572
NM_001375405.1(CEP120):c.2014-14del rs766009969
NM_001375405.1(CEP120):c.2014-14dup
NM_001375405.1(CEP120):c.2104-18_2104-13del rs76942218
NM_001375405.1(CEP120):c.2197-14G>A
NM_001375405.1(CEP120):c.2581-18= rs485847
NM_001375405.1(CEP120):c.2840G>A (p.Arg947His) rs2303720
NM_001375405.1(CEP120):c.779G>A (p.Arg260His) rs189429890
NM_001377.3(DYNC2H1):c.10043-7dup rs571044263
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.10695+20del
NM_001377.3(DYNC2H1):c.11096-9A>G
NM_001377.3(DYNC2H1):c.11257-11dup
NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT rs3834451
NM_001377.3(DYNC2H1):c.11494-5dup
NM_001377.3(DYNC2H1):c.11650-6dup
NM_001377.3(DYNC2H1):c.11726-11del
NM_001377.3(DYNC2H1):c.11726-11dup
NM_001377.3(DYNC2H1):c.11935-8A>G
NM_001377.3(DYNC2H1):c.12039+14_12039+15dup
NM_001377.3(DYNC2H1):c.12039+15del
NM_001377.3(DYNC2H1):c.12039+15dup
NM_001377.3(DYNC2H1):c.12457-6dup rs750717754
NM_001377.3(DYNC2H1):c.12766-7dup rs747006567
NM_001377.3(DYNC2H1):c.1360+6dup rs2134716056
NM_001377.3(DYNC2H1):c.1857+19dup
NM_001377.3(DYNC2H1):c.3009A>G (p.Gly1003=)
NM_001377.3(DYNC2H1):c.3574-8del rs5794210
NM_001377.3(DYNC2H1):c.3574-8dup
NM_001377.3(DYNC2H1):c.3574-9_3574-8del rs5794210
NM_001377.3(DYNC2H1):c.366+27del
NM_001377.3(DYNC2H1):c.366+27dup rs749527696
NM_001377.3(DYNC2H1):c.4128-10del
NM_001377.3(DYNC2H1):c.4128-10dup
NM_001377.3(DYNC2H1):c.4260+11del rs566083620
NM_001377.3(DYNC2H1):c.4260+21del
NM_001377.3(DYNC2H1):c.4261-6dup
NM_001377.3(DYNC2H1):c.4492-19T>C
NM_001377.3(DYNC2H1):c.5675-5dup
NM_001377.3(DYNC2H1):c.6140-20C>T
NM_001377.3(DYNC2H1):c.622-5dup
NM_001377.3(DYNC2H1):c.7141-8del
NM_001377.3(DYNC2H1):c.7293-3del
NM_001377.3(DYNC2H1):c.7293-3dup
NM_001377.3(DYNC2H1):c.7503A>G (p.Gln2501=)
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.7540+14G>T rs115273161
NM_001377.3(DYNC2H1):c.766+15del
NM_001377.3(DYNC2H1):c.7840-6dup rs886047567
NM_001377.3(DYNC2H1):c.8540-5del
NM_001377.3(DYNC2H1):c.8540-5dup
NM_001377.3(DYNC2H1):c.9231+9del
NM_001377.3(DYNC2H1):c.9819+25del rs748459541
NM_001377.3(DYNC2H1):c.9819+25dup rs748459541
NM_001377.3(DYNC2H1):c.9820-8del
NM_001377.3(DYNC2H1):c.9919-11dup
NM_012224.2(NEK1):c.-614C>A rs10520157
NM_014714.4(IFT140):c.1652+13dup
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp) rs540658203
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly) rs548992623
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.4353C>T (p.Asp1451=)
NM_014714.4(IFT140):c.459G>T (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014804.3(KIAA0753):c.507T>C (p.Ser169=) rs2072149
NM_015662.3(IFT172):c.1459C>T (p.Arg487Cys)
NM_015662.3(IFT172):c.1525-17G>A rs187471043
NM_015662.3(IFT172):c.1525-6C>T
NM_015662.3(IFT172):c.184-14_184-11del
NM_015662.3(IFT172):c.184-23dup rs747166252
NM_015662.3(IFT172):c.2023-5dup
NM_015662.3(IFT172):c.2877+48T>G rs780106
NM_016008.4(DYNC2LI1):c.98T>C (p.Phe33Ser) rs2288709
NM_018051.5(DYNC2I1):c.1702+14C>G
NM_018051.5(DYNC2I1):c.1922-4del rs113911955
NM_018051.5(DYNC2I1):c.2868G>A (p.Ala956=)
NM_018051.5(DYNC2I1):c.313_315del (p.Lys105del) rs3833679
NM_020779.4(WDR35):c.*978A>G rs149444449
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_020779.4(WDR35):c.1846-11dup rs754138477
NM_020779.4(WDR35):c.24+17dup
NM_020779.4(WDR35):c.2622A>T (p.Pro874=)
NM_020800.3(IFT80):c.1381-14dup rs762163693
NM_020800.3(IFT80):c.1665-7del rs769406658
NM_020800.3(IFT80):c.1665-7dup rs769406658
NM_020800.3(IFT80):c.1755A>C (p.Ile585=)
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-10dup rs58665245
NM_020800.3(IFT80):c.2224-19_2224-18dup rs58665245
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_020800.3(IFT80):c.371-11del rs34613811
NM_020800.3(IFT80):c.371-11dup
NM_020800.3(IFT80):c.440-18del rs199675485
NM_020800.3(IFT80):c.440-27dup rs199675485
NM_020800.3(IFT80):c.958-8T>C rs752430715
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.1900-17del rs1312196560
NM_024753.5(TTC21B):c.21+2TGAGCGGG[5] rs59477041
NM_024753.5(TTC21B):c.21+33_21+34insGCGGGTGAGCGG rs569432248
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.430-5del
NM_024753.5(TTC21B):c.553-13del rs749999474
NM_024753.5(TTC21B):c.711-8del
NM_024753.5(TTC21B):c.863T>C (p.Phe288Ser)
NM_024753.5(TTC21B):c.895-9del
NM_024753.5(TTC21B):c.895-9dup rs752610067
NM_025132.4(WDR19):c.165-6dup
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2364-4dup rs750106753
NM_025132.4(WDR19):c.2364-5_2364-4del
NM_025132.4(WDR19):c.2730-5del rs756429071
NM_025132.4(WDR19):c.2730-5dup
NM_025132.4(WDR19):c.3566-10del
NM_052844.4(DYNC2I2):c.1214+16_1214+22del rs548912505
NM_052844.4(DYNC2I2):c.1551G>A (p.Thr517=) rs148693978
NM_147127.5(EVC2):c.1146-12dup
NM_147127.5(EVC2):c.1710+16C>T
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-12_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.2047-18dup
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2571C>T (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3272+8G>C rs201800139
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_153717.3(EVC):c.*1845del rs397690241
NM_153717.3(EVC):c.1099-167G>C rs6810769
NM_153717.3(EVC):c.1099-208C>T rs6812234
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
NM_153717.3(EVC):c.1563+185A>G rs12499655
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+15dup rs398092136
NM_153717.3(EVC):c.2449+16del
NM_153717.3(EVC):c.2562-3del
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
NM_153717.3(EVC):c.802-12_802-11del rs372546602
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)

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