ClinVar Miner

List of variants studied for short rib dysplasia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2412
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_015662.3(IFT172):c.337-12C>T rs79529534 0.02365
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
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_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
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_014804.3(KIAA0753):c.2338C>T (p.Arg780Cys) rs73342622 0.01124
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_015662.3(IFT172):c.571-15C>G rs75809198 0.01015
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu) rs61735441 0.00722
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_015662.3(IFT172):c.4659+16T>C rs143060452 0.00514
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_014714.4(IFT140):c.492-20C>T rs149012740 0.00273
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
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_014804.3(KIAA0753):c.236T>C (p.Val79Ala) rs201379908 0.00240
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_014714.4(IFT140):c.4040+15C>G rs373703197 0.00160
NM_015662.3(IFT172):c.4755+9G>C rs375261962 0.00135
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_014714.4(IFT140):c.2067+12C>T rs201954701 0.00129
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_014714.4(IFT140):c.1359+12G>C rs150859038 0.00125
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_015662.3(IFT172):c.2443-19A>G rs199907803 0.00101
NM_015662.3(IFT172):c.2787+20C>T rs200344602 0.00100
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) rs189100009 0.00087
NM_015662.3(IFT172):c.2787+6G>A rs75805075 0.00086
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_015662.3(IFT172):c.3186G>A (p.Val1062=) rs143922405 0.00078
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00077
NM_015662.3(IFT172):c.5161-20G>A rs372154058 0.00076
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=) rs148387007 0.00075
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
NM_025132.4(WDR19):c.2363+7C>T rs190180293 0.00066
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His) rs139327086 0.00056
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_001102564.3(IFT43):c.136C>T (p.Leu46=) rs151137087 0.00052
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115 0.00051
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr) rs140623081 0.00050
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg) rs139229844 0.00049
NM_052989.3(IFT122):c.986C>T (p.Ala329Val) rs200915373 0.00049
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) rs144938800 0.00048
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln) rs138684775 0.00045
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804 0.00045
NM_014714.4(IFT140):c.2067G>A (p.Ala689=) rs143537808 0.00043
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) rs113216558 0.00043
NM_015662.3(IFT172):c.2023-15C>A rs377630264 0.00043
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln) rs141440865 0.00041
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) rs148222901 0.00041
NM_024753.5(TTC21B):c.2829A>G (p.Leu943=) rs146009256 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_001102564.3(IFT43):c.369-18G>A rs199590828 0.00040
NM_052989.3(IFT122):c.3266-19C>T rs201753855 0.00040
NM_014714.4(IFT140):c.3661-18C>T rs575501010 0.00039
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681 0.00039
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 0.00039
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp) rs184506506 0.00036
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) rs148626512 0.00036
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601 0.00035
NM_014714.4(IFT140):c.1359+20G>A rs374488263 0.00035
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser) rs142655964 0.00035
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631 0.00034
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_001102564.3(IFT43):c.516C>T (p.Val172=) rs372647793 0.00033
NM_001375405.1(CEP120):c.1431-11_1431-9del rs776090638 0.00033
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00033
NM_015662.3(IFT172):c.1523G>A (p.Arg508His) rs144868723 0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=) rs202224171 0.00029
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_052989.3(IFT122):c.417-16T>C rs192128912 0.00029
NM_024753.5(TTC21B):c.2942G>A (p.Arg981His) rs142022626 0.00028
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met) rs143430766 0.00027
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217 0.00027
NM_020800.3(IFT80):c.371-19T>G rs557249203 0.00027
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) rs200670161 0.00027
NM_001102564.3(IFT43):c.201C>T (p.Ser67=) rs140127543 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) rs148663745 0.00026
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015662.3(IFT172):c.2949G>A (p.Lys983=) rs141970363 0.00026
NM_015662.3(IFT172):c.3951+14G>T rs376690357 0.00026
NM_015662.3(IFT172):c.987G>A (p.Thr329=) rs376714689 0.00026
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter) rs150616080 0.00025
NM_015662.3(IFT172):c.291A>C (p.Glu97Asp) rs189236939 0.00025
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=) rs551376007 0.00025
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val) rs147933112 0.00024
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser) rs141471091 0.00024
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro) rs749447795 0.00024
NM_015662.3(IFT172):c.2193+10T>A rs368782783 0.00024
NM_015662.3(IFT172):c.3952-19C>T rs367962098 0.00024
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter) rs367810877 0.00024
NM_014714.4(IFT140):c.2768+17C>T rs373280850 0.00023
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys) rs141190788 0.00023
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) rs148093208 0.00022
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu) rs533077805 0.00022
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=) rs148625428 0.00021
NM_014714.4(IFT140):c.4144C>T (p.Leu1382=) rs139458566 0.00021
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn) rs139286030 0.00021
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) rs137906877 0.00021
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_052989.3(IFT122):c.1380C>T (p.Ser460=) rs142641511 0.00021
NM_052989.3(IFT122):c.531G>A (p.Ser177=) rs150496357 0.00021
NM_015662.3(IFT172):c.2521+11C>T rs373403495 0.00020
NM_024753.5(TTC21B):c.468A>G (p.Gly156=) rs139457042 0.00020
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu) rs193183329 0.00020
NM_052989.3(IFT122):c.2424G>C (p.Leu808=) rs148188237 0.00020
NM_001102564.3(IFT43):c.16G>C (p.Asp6His) rs201966792 0.00019
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) rs149642543 0.00019
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala) rs752069515 0.00019
NM_015662.3(IFT172):c.4815+9G>A rs199667794 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) rs140196566 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_052989.3(IFT122):c.2760G>A (p.Met920Ile) rs374188891 0.00019
NM_052989.3(IFT122):c.478A>G (p.Asn160Asp) rs199886551 0.00019
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_001377.3(DYNC2H1):c.7719C>T (p.Tyr2573=) rs373903792 0.00018
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=) rs377427370 0.00018
NM_020779.4(WDR35):c.1330C>T (p.Arg444Cys) rs148510977 0.00018
NM_001102564.3(IFT43):c.444+5G>A rs377078385 0.00017
NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly) rs529024280 0.00017
NM_014714.4(IFT140):c.1524+8G>A rs369331038 0.00017
NM_015662.3(IFT172):c.2976-3C>T rs371847154 0.00017
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp) rs139223261 0.00017
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln) rs202111577 0.00017
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val) rs371940683 0.00017
NM_024753.5(TTC21B):c.2549C>T (p.Ala850Val) rs199795649 0.00017
NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp) rs367690496 0.00017
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr) rs144831946 0.00017
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe) rs201692401 0.00016
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp) rs575196272 0.00016
NM_014714.4(IFT140):c.3874-17G>A rs376776316 0.00016
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln) rs140908725 0.00016
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr) rs202129528 0.00015
NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln) rs147394910 0.00015
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=) rs143671920 0.00015
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys) rs146290725 0.00015
NM_020800.3(IFT80):c.758G>A (p.Arg253His) rs144738877 0.00015
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln) rs376163622 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_052989.3(IFT122):c.2458A>G (p.Ser820Gly) rs755556032 0.00015
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=) rs373152133 0.00015
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln) rs150498538 0.00014
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys) rs146277966 0.00014
NM_015662.3(IFT172):c.4209G>C (p.Gln1403His) rs149065251 0.00014
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu) rs368373262 0.00014
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) rs201365447 0.00014
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp) rs371376632 0.00014
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=) rs200659514 0.00014
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) rs141539693 0.00014
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 0.00014
NM_052989.3(IFT122):c.2715C>T (p.Ala905=) rs143748879 0.00014
NM_014714.4(IFT140):c.128T>C (p.Val43Ala) rs372148301 0.00013
NM_014714.4(IFT140):c.2886G>A (p.Ala962=) rs201150342 0.00013
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln) rs138596995 0.00013
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00013
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly) rs369515554 0.00013
NM_024753.5(TTC21B):c.441G>A (p.Leu147=) rs147696806 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_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_015662.3(IFT172):c.184-10A>T rs546122503 0.00012
NM_015662.3(IFT172):c.2442+16T>A rs189737111 0.00012
NM_015662.3(IFT172):c.39+13G>A rs747789616 0.00012
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala) rs368343162 0.00012
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile) rs201162086 0.00012
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val) rs201949058 0.00011
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp) rs146480546 0.00011
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His) rs147661907 0.00011
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr) rs751861503 0.00011
NM_014714.4(IFT140):c.634+6G>C rs368229365 0.00011
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg) rs373479905 0.00011
NM_015662.3(IFT172):c.146G>A (p.Arg49Gln) rs151097967 0.00011
NM_015662.3(IFT172):c.1991A>G (p.Asn664Ser) rs199631887 0.00011
NM_015662.3(IFT172):c.2159G>A (p.Arg720His) rs202089120 0.00011
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser) rs369780709 0.00011
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys) rs746340772 0.00011
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys) rs373098915 0.00011
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys) rs374073530 0.00011
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln) rs539243373 0.00011
NM_020800.3(IFT80):c.1204C>T (p.Arg402Cys) rs190990464 0.00011
NM_024753.5(TTC21B):c.2937A>G (p.Leu979=) rs138361451 0.00011
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr) rs767696555 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) rs193273000 0.00011
NM_025132.4(WDR19):c.1797T>G (p.Ala599=) rs373430338 0.00011
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys) rs548534755 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_052989.3(IFT122):c.2987+15A>G rs373111458 0.00011
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_001199397.3(NEK1):c.642G>A (p.Lys214=) rs369725706 0.00010
NM_014714.4(IFT140):c.1146G>A (p.Thr382=) rs200975046 0.00010
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp) rs749099710 0.00010
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser) rs145645423 0.00010
NM_014714.4(IFT140):c.768G>A (p.Leu256=) rs775181670 0.00010
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg) rs146163533 0.00010
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys) rs529914770 0.00010
NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile) rs571686284 0.00010
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe) rs140323384 0.00010
NM_024753.5(TTC21B):c.437T>G (p.Val146Gly) rs200916501 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val) rs138364911 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) rs183261797 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014714.4(IFT140):c.1995C>T (p.Ala665=) rs200653061 0.00009
NM_014714.4(IFT140):c.2199+19C>T rs773530788 0.00009
NM_014714.4(IFT140):c.2844C>T (p.Tyr948=) rs777036003 0.00009
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr) rs554065722 0.00009
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile) rs145746065 0.00009
NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys) rs201642067 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp) rs141043554 0.00009
NM_015662.3(IFT172):c.1608C>T (p.Asp536=) rs749114212 0.00009
NM_015662.3(IFT172):c.2122G>A (p.Val708Met) rs140506322 0.00009
NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr) rs144620711 0.00009
NM_015662.3(IFT172):c.247A>G (p.Ile83Val) rs142227350 0.00009
NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr) rs746868013 0.00009
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser) rs763238244 0.00009
NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn) rs542662514 0.00009
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly) rs139543775 0.00009
NM_020800.3(IFT80):c.1052C>T (p.Thr351Met) rs199778285 0.00009
NM_024753.5(TTC21B):c.1195T>C (p.Tyr399His) rs187985767 0.00009
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789 0.00009
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His) rs139653847 0.00009
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_024753.5(TTC21B):c.2606A>G (p.Gln869Arg) rs137926033 0.00009
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) rs146201603 0.00009
NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys) rs377393152 0.00009
NM_024753.5(TTC21B):c.453T>G (p.Leu151=) rs148935124 0.00009
NM_024753.5(TTC21B):c.553-20C>G rs376144362 0.00009
NM_025132.4(WDR19):c.1250-1G>A rs1327583103 0.00009
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) rs563367049 0.00009
NM_025132.4(WDR19):c.99-11A>C rs756899296 0.00009
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val) rs115715082 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.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_001102564.3(IFT43):c.445-15T>C rs745766333 0.00008
NM_001377.3(DYNC2H1):c.7794A>G (p.Pro2598=) rs781691287 0.00008
NM_014714.4(IFT140):c.160C>T (p.Pro54Ser) rs771294438 0.00008
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe) rs751137317 0.00008
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile) rs538791217 0.00008
NM_014714.4(IFT140):c.2543G>A (p.Arg848His) rs746743309 0.00008
NM_014714.4(IFT140):c.3639G>A (p.Thr1213=) rs747655543 0.00008
NM_014714.4(IFT140):c.4183-20T>C rs371461352 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_015662.3(IFT172):c.1331G>A (p.Arg444His) rs751965696 0.00008
NM_015662.3(IFT172):c.1829G>A (p.Arg610Gln) rs144890293 0.00008
NM_015662.3(IFT172):c.1983T>A (p.His661Gln) rs150739354 0.00008
NM_015662.3(IFT172):c.2103C>A (p.Ile701=) rs138604630 0.00008
NM_015662.3(IFT172):c.3933G>A (p.Ala1311=) rs143011753 0.00008
NM_015662.3(IFT172):c.732C>T (p.Thr244=) rs778790509 0.00008
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys) rs201860485 0.00008
NM_020800.3(IFT80):c.691C>T (p.Pro231Ser) rs149447674 0.00008
NM_024753.5(TTC21B):c.234A>G (p.Ile78Met) rs139885689 0.00008
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=) rs148113339 0.00008
NM_024753.5(TTC21B):c.795+3A>G rs753275145 0.00008
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala) rs773816730 0.00008
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter) rs201794999 0.00007
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu) rs752648207 0.00007
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val) rs775759544 0.00007
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) rs778311141 0.00007
NM_014714.4(IFT140):c.1876T>C (p.Ser626Pro) rs200765913 0.00007
NM_014714.4(IFT140):c.2067+5G>A rs370629233 0.00007
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe) rs137966471 0.00007
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met) rs757585192 0.00007
NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln) rs148240226 0.00007
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys) rs758535401 0.00007
NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr) rs202216329 0.00007
NM_015662.3(IFT172):c.3711+17A>G rs376488082 0.00007
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser) rs771817287 0.00007
NM_024753.5(TTC21B):c.2568+17G>T rs370340216 0.00007
NM_024753.5(TTC21B):c.3819A>G (p.Ala1273=) rs373891320 0.00007
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala) rs762885961 0.00007
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) rs369201153 0.00007
NM_025132.4(WDR19):c.3261+20C>T rs547317070 0.00007
NM_025132.4(WDR19):c.3358+14A>G rs372822923 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_052989.3(IFT122):c.1489-16G>A rs576753615 0.00007
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe) rs763332787 0.00007
NM_052989.3(IFT122):c.2315T>A (p.Ile772Asn) rs371325633 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu) rs778799892 0.00006
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser) rs554856028 0.00006
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006
NM_001377.3(DYNC2H1):c.4762+20T>C rs750684131 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr) rs200292484 0.00006
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln) rs147556035 0.00006
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp) rs781160807 0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_014714.4(IFT140):c.1401C>T (p.Phe467=) rs368477699 0.00006
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser) rs756324852 0.00006
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) rs555330165 0.00006
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu) rs566568065 0.00006
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly) rs771632573 0.00006
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_014714.4(IFT140):c.903-17G>T rs377542255 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile) rs769275482 0.00006
NM_015662.3(IFT172):c.1006-10C>T rs545781319 0.00006
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly) rs61740250 0.00006
NM_015662.3(IFT172):c.2522C>T (p.Ala841Val) rs762431558 0.00006
NM_015662.3(IFT172):c.3921C>T (p.Asn1307=) rs377211687 0.00006
NM_015662.3(IFT172):c.4284C>G (p.Asp1428Glu) rs199502476 0.00006
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr) rs377646246 0.00006
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg) rs146047876 0.00006
NM_015662.3(IFT172):c.442A>G (p.Ile148Val) rs759861487 0.00006
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr) rs370903625 0.00006
NM_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 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.2644G>A (p.Val882Ile) rs377535267 0.00006
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser) rs200258619 0.00006
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser) rs373671362 0.00006
NM_024753.5(TTC21B):c.1528G>C (p.Ala510Pro) rs200505317 0.00006
NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser) rs200137653 0.00006
NM_024753.5(TTC21B):c.1743C>T (p.Asp581=) rs200990862 0.00006
NM_024753.5(TTC21B):c.1875C>T (p.Asp625=) rs201527373 0.00006
NM_024753.5(TTC21B):c.2176C>A (p.Leu726Ile) rs762535321 0.00006
NM_024753.5(TTC21B):c.2230G>C (p.Ala744Pro) rs150783918 0.00006
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys) rs763158250 0.00006
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg) rs769057187 0.00006
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619 0.00006
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly) rs371744495 0.00006
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser) rs758716599 0.00006
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys) rs779337768 0.00006
NM_025132.4(WDR19):c.785G>A (p.Gly262Glu) rs778096567 0.00006
NM_025132.4(WDR19):c.842T>C (p.Ile281Thr) rs369657594 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln) rs146270512 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.273-268A>T rs376246143 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_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys) rs377461598 0.00006
NM_001102564.3(IFT43):c.397C>T (p.Arg133Cys) rs372547166 0.00005
NM_001377.3(DYNC2H1):c.2422G>A (p.Gly808Ser) rs372055203 0.00005
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln) rs780189760 0.00005
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) rs199758112 0.00005
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys) rs774690522 0.00005
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys) rs368830697 0.00005
NM_014714.4(IFT140):c.3660+14G>A rs571494292 0.00005
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 0.00005
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln) rs150276786 0.00005
NM_014714.4(IFT140):c.594G>A (p.Gly198=) rs754896534 0.00005
NM_014714.4(IFT140):c.832G>A (p.Gly278Ser) rs141986611 0.00005
NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile) rs369169776 0.00005
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln) rs370097039 0.00005
NM_015662.3(IFT172):c.3372-3C>T rs150011917 0.00005
NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn) rs777398021 0.00005
NM_015662.3(IFT172):c.4448G>A (p.Arg1483Lys) rs201356906 0.00005
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys) rs138003766 0.00005
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2415-2A>G rs143550695 0.00005
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val) rs763618858 0.00005
NM_020779.4(WDR35):c.2842A>T (p.Lys948Ter) rs749233041 0.00005
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter) rs199840434 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.2099+4A>G rs754398043 0.00005
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) rs551983792 0.00005
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg) rs202087501 0.00005
NM_024753.5(TTC21B):c.2398T>C (p.Leu800=) rs781367281 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys) rs757730050 0.00005
NM_024753.5(TTC21B):c.2913dup (p.Val972fs) rs867205119 0.00005
NM_024753.5(TTC21B):c.2951-4C>T rs369065819 0.00005
NM_024753.5(TTC21B):c.3707A>G (p.Tyr1236Cys) rs144130537 0.00005
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu) rs571678102 0.00005
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu) rs749621367 0.00005
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) rs757564170 0.00005
NM_025132.4(WDR19):c.522+13C>T rs374417243 0.00005
NM_025132.4(WDR19):c.592G>A (p.Ala198Thr) rs575149055 0.00005
NM_025132.4(WDR19):c.962-11G>A rs537505873 0.00005
NM_052989.3(IFT122):c.3046C>T (p.Arg1016Trp) rs776052135 0.00005
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile) rs138028750 0.00005
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=) rs775936679 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp) rs755493101 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_001102564.3(IFT43):c.104A>G (p.Asn35Ser) rs144327903 0.00004
NM_001102564.3(IFT43):c.570G>A (p.Glu190=) rs201394224 0.00004
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met) rs759241440 0.00004
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019 0.00004
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) rs201871050 0.00004
NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg) rs369998823 0.00004
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) rs1257804746 0.00004
NM_014714.4(IFT140):c.1653-4G>A rs750603473 0.00004
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp) rs757678246 0.00004
NM_014714.4(IFT140):c.189G>A (p.Arg63=) rs759832443 0.00004
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192 0.00004
NM_014714.4(IFT140):c.2044C>A (p.Gln682Lys) rs371064856 0.00004
NM_014714.4(IFT140):c.2066C>T (p.Ala689Val) rs147290396 0.00004
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe) rs141172132 0.00004
NM_014714.4(IFT140):c.2400-13C>T rs558510749 0.00004
NM_014714.4(IFT140):c.2433C>T (p.Cys811=) rs756784917 0.00004
NM_014714.4(IFT140):c.2492G>A (p.Arg831His) rs769046641 0.00004
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln) rs771116194 0.00004
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val) rs145609033 0.00004
NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu) rs2040655109 0.00004
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) rs369493147 0.00004
NM_014714.4(IFT140):c.291G>A (p.Thr97=) rs774795976 0.00004
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=) rs528573485 0.00004
NM_014714.4(IFT140):c.3193G>A (p.Glu1065Lys) rs373564205 0.00004
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met) rs146537096 0.00004
NM_014714.4(IFT140):c.3271-5C>T rs368227090 0.00004
NM_014714.4(IFT140):c.329G>A (p.Arg110His) rs371077545 0.00004
NM_014714.4(IFT140):c.3408C>G (p.His1136Gln) rs374602347 0.00004
NM_014714.4(IFT140):c.3695A>G (p.Glu1232Gly) rs774000109 0.00004
NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln) rs756683299 0.00004
NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr) rs539917190 0.00004
NM_014714.4(IFT140):c.4037G>A (p.Arg1346His) rs144050063 0.00004
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs) rs753109181 0.00004
NM_014714.4(IFT140):c.811-10C>T rs781747985 0.00004
NM_014714.4(IFT140):c.811-19C>T rs568239635 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs) rs755903123 0.00004
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548 0.00004
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln) rs137868356 0.00004
NM_015662.3(IFT172):c.1247A>G (p.Glu416Gly) rs779907319 0.00004
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp) rs779152335 0.00004
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys) rs148710037 0.00004
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg) rs762521619 0.00004
NM_015662.3(IFT172):c.184-6T>A rs371658303 0.00004
NM_015662.3(IFT172):c.1964C>T (p.Ala655Val) rs370407165 0.00004
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp) rs201921339 0.00004
NM_015662.3(IFT172):c.2222G>A (p.Arg741His) rs1011923461 0.00004
NM_015662.3(IFT172):c.2818C>T (p.Arg940Trp) rs760316903 0.00004
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys) rs762645007 0.00004
NM_015662.3(IFT172):c.318C>T (p.Cys106=) rs772983278 0.00004
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met) rs76076247 0.00004
NM_015662.3(IFT172):c.3549T>C (p.Asp1183=) rs566100277 0.00004
NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala) rs553301895 0.00004
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys) rs557292146 0.00004
NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val) rs757464563 0.00004
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile) rs115716101 0.00004
NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala) rs750991615 0.00004
NM_015662.3(IFT172):c.5000G>A (p.Arg1667His) rs201017771 0.00004
NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp) rs560831644 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala) rs749612277 0.00004
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00004
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly) rs1281384371 0.00004
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile) rs573430534 0.00004
NM_020800.3(IFT80):c.634T>C (p.Tyr212His) rs756009771 0.00004
NM_020800.3(IFT80):c.659G>A (p.Arg220His) rs754818191 0.00004
NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His) rs377009251 0.00004
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter) rs771232897 0.00004
NM_024753.5(TTC21B):c.1847G>A (p.Arg616His) rs780307963 0.00004
NM_024753.5(TTC21B):c.1963C>T (p.Arg655Trp) rs138937289 0.00004
NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys) rs370846838 0.00004
NM_024753.5(TTC21B):c.2272T>C (p.Leu758=) rs111228450 0.00004
NM_024753.5(TTC21B):c.2580A>G (p.Leu860=) rs201563244 0.00004
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.3182A>G (p.Tyr1061Cys) rs200280772 0.00004
NM_024753.5(TTC21B):c.3556A>G (p.Met1186Val) rs376308209 0.00004
NM_024753.5(TTC21B):c.361A>G (p.Ile121Val) rs373353875 0.00004
NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln) rs201495700 0.00004
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val) rs140899101 0.00004
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs) rs1353172956 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.1962A>G (p.Ala654=) rs770818331 0.00004
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr) rs768082694 0.00004
NM_025132.4(WDR19):c.2607C>T (p.Tyr869=) rs371645967 0.00004
NM_025132.4(WDR19):c.2742T>C (p.Ala914=) rs753812144 0.00004
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His) rs781620821 0.00004
NM_025132.4(WDR19):c.3474A>G (p.Ile1158Met) rs760312911 0.00004
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn) rs750250561 0.00004
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp) rs754690461 0.00004
NM_025132.4(WDR19):c.427A>T (p.Thr143Ser) rs1300821144 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn) rs76007598 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.2720C>T (p.Ala907Val) rs377690924 0.00004
NM_052989.3(IFT122):c.273-346C>T rs778846137 0.00004
NM_052989.3(IFT122):c.2895G>A (p.Pro965=) rs771092154 0.00004
NM_052989.3(IFT122):c.2904C>T (p.Val968=) rs140575442 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3073C>G (p.Leu1025Val) rs778888913 0.00004
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu) rs368574590 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_052989.3(IFT122):c.524C>T (p.Ser175Phe) rs777645844 0.00004
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser) rs754782458 0.00004
NM_052989.3(IFT122):c.849C>T (p.Pro283=) rs771115196 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_001102564.3(IFT43):c.365C>T (p.Pro122Leu) rs202182087 0.00003
NM_001102564.3(IFT43):c.501C>A (p.Val167=) rs1248117843 0.00003
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) rs369614706 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612 0.00003
NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val) rs371037205 0.00003
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321 0.00003
NM_014714.4(IFT140):c.1145C>T (p.Thr382Met) rs780000949 0.00003
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.1368C>T (p.Val456=) rs561657958 0.00003
NM_014714.4(IFT140):c.1432+18G>A rs374262499 0.00003
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met) rs764537319 0.00003
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) rs373111085 0.00003
NM_014714.4(IFT140):c.1901+1G>T rs375910993 0.00003
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser) rs778960409 0.00003
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg) rs769632242 0.00003
NM_014714.4(IFT140):c.2138G>A (p.Arg713Gln) rs200440483 0.00003
NM_014714.4(IFT140):c.215C>T (p.Thr72Met) rs774892063 0.00003
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys) rs755748472 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_014714.4(IFT140):c.2692G>A (p.Val898Met) rs369457143 0.00003
NM_014714.4(IFT140):c.2717G>A (p.Arg906His) rs754338217 0.00003
NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg) rs201100248 0.00003
NM_014714.4(IFT140):c.2743G>A (p.Ala915Thr) rs529397200 0.00003
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn) rs568921640 0.00003
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp) rs141818893 0.00003
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu) rs952706482 0.00003
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala) rs149521576 0.00003
NM_014714.4(IFT140):c.4041-5G>A rs754813435 0.00003
NM_014714.4(IFT140):c.4383C>T (p.Asp1461=) rs768372140 0.00003
NM_014714.4(IFT140):c.4385C>T (p.Pro1462Leu) rs1198844614 0.00003
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr) rs145551546 0.00003
NM_015662.3(IFT172):c.1056C>G (p.His352Gln) rs145847794 0.00003
NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp) rs374979653 0.00003
NM_015662.3(IFT172):c.1893G>A (p.Leu631=) rs774534899 0.00003
NM_015662.3(IFT172):c.2388A>G (p.Thr796=) rs750450341 0.00003
NM_015662.3(IFT172):c.2681G>A (p.Arg894His) rs561927411 0.00003
NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys) rs749474609 0.00003
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln) rs201607202 0.00003
NM_015662.3(IFT172):c.357A>G (p.Gln119=) rs749934202 0.00003
NM_015662.3(IFT172):c.4130C>T (p.Ala1377Val) rs376824384 0.00003
NM_015662.3(IFT172):c.4161-16C>T rs573518240 0.00003
NM_015662.3(IFT172):c.456G>A (p.Glu152=) rs771141815 0.00003
NM_015662.3(IFT172):c.4598C>T (p.Thr1533Met) rs202181028 0.00003
NM_015662.3(IFT172):c.707G>A (p.Arg236His) rs768290728 0.00003
NM_015662.3(IFT172):c.953G>A (p.Arg318Gln) rs779572697 0.00003
NM_015662.3(IFT172):c.986C>T (p.Thr329Met) rs568736482 0.00003
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys) rs781365658 0.00003
NM_020779.4(WDR35):c.2864G>A (p.Arg955His) rs780666056 0.00003
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val) rs376284452 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_020779.4(WDR35):c.628A>G (p.Ile210Val) rs1413290520 0.00003
NM_020800.3(IFT80):c.370+6T>C rs754136912 0.00003
NM_020800.3(IFT80):c.571A>G (p.Ile191Val) rs376853807 0.00003
NM_024753.5(TTC21B):c.1535T>C (p.Phe512Ser) rs371583620 0.00003
NM_024753.5(TTC21B):c.1798G>T (p.Ala600Ser) rs369672356 0.00003
NM_024753.5(TTC21B):c.2165C>G (p.Pro722Arg) rs760571843 0.00003
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) rs151309609 0.00003
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His) rs752147287 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.2966T>C (p.Leu989Ser) rs552766355 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.3640G>A (p.Asp1214Asn) rs554851165 0.00003
NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys) rs200605660 0.00003
NM_024753.5(TTC21B):c.62A>G (p.His21Arg) rs757283243 0.00003
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg) rs773773910 0.00003
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr) rs752803760 0.00003
NM_025132.4(WDR19):c.1430G>A (p.Arg477His) rs371117988 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.2320A>G (p.Ile774Val) rs762043395 0.00003
NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys) rs770091572 0.00003
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr) rs1057523257 0.00003
NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser) rs763190830 0.00003
NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe) rs199625785 0.00003
NM_025132.4(WDR19):c.3716+13G>A rs759523972 0.00003
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met) rs529745222 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_052989.3(IFT122):c.1207A>C (p.Ile403Leu) rs149915993 0.00003
NM_052989.3(IFT122):c.1795G>A (p.Gly599Ser) rs758194778 0.00003
NM_052989.3(IFT122):c.2840G>A (p.Arg947His) rs760810819 0.00003
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His) rs143602964 0.00003
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu) rs751262275 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_001102564.3(IFT43):c.296-5681A>G rs755977535 0.00002
NM_001102564.3(IFT43):c.398G>A (p.Arg133His) rs755396441 0.00002
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp) rs1483926431 0.00002
NM_001199397.3(NEK1):c.2361G>A (p.Lys787=) rs886042457 0.00002
NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter) rs751891969 0.00002
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
NM_001377.3(DYNC2H1):c.12156+1G>A rs794727944 0.00002
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter) rs1223863177 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) rs749332092 0.00002
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter) rs1206753537 0.00002
NM_014714.4(IFT140):c.127G>A (p.Val43Met) rs150649451 0.00002
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) rs373106880 0.00002
NM_014714.4(IFT140):c.2200-20A>G rs760501465 0.00002
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly) rs758544371 0.00002
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val) rs748463111 0.00002
NM_014714.4(IFT140):c.2632T>A (p.Phe878Ile) rs1396499118 0.00002
NM_014714.4(IFT140):c.2691C>T (p.Arg897=) rs776456361 0.00002
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys) rs778004145 0.00002
NM_014714.4(IFT140):c.2702G>A (p.Arg901His) rs374245105 0.00002
NM_014714.4(IFT140):c.312C>T (p.Ala104=) rs138263672 0.00002
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser) rs763140298 0.00002
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met) rs764946729 0.00002
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu) rs542803163 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014714.4(IFT140):c.3625A>G (p.Thr1209Ala) rs1464318641 0.00002
NM_014714.4(IFT140):c.3660+12C>T rs755939601 0.00002
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val) rs369161842 0.00002
NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala) rs138311751 0.00002
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys) rs756142477 0.00002
NM_014714.4(IFT140):c.3995T>C (p.Leu1332Pro) rs902428763 0.00002
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met) rs557586568 0.00002
NM_014714.4(IFT140):c.773C>T (p.Thr258Met) rs140020318 0.00002
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122 0.00002
NM_015662.3(IFT172):c.1005+10A>T rs771534291 0.00002
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser) rs962054597 0.00002
NM_015662.3(IFT172):c.135A>T (p.Glu45Asp) rs1350745027 0.00002
NM_015662.3(IFT172):c.1367A>T (p.Asn456Ile) rs528303561 0.00002
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn) rs747544155 0.00002
NM_015662.3(IFT172):c.1693-19G>T rs202039261 0.00002
NM_015662.3(IFT172):c.1973G>A (p.Arg658Gln) rs376890875 0.00002
NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr) rs777173046 0.00002
NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr) rs188779949 0.00002
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp) rs773174861 0.00002
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys) rs1036729851 0.00002
NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp) rs745644146 0.00002
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala) rs138139922 0.00002
NM_015662.3(IFT172):c.3197G>A (p.Arg1066Gln) rs759282959 0.00002
NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys) rs375755957 0.00002
NM_015662.3(IFT172):c.3989G>A (p.Arg1330His) rs202236985 0.00002
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00002
NM_015662.3(IFT172):c.403-16A>G rs367657817 0.00002
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys) rs753783467 0.00002
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr) rs1461000488 0.00002
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu) rs777573615 0.00002
NM_015662.3(IFT172):c.4364G>A (p.Arg1455Gln) rs747215055 0.00002
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala) rs769170592 0.00002
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=) rs530107456 0.00002
NM_015662.3(IFT172):c.5033G>A (p.Ser1678Asn) rs972056548 0.00002
NM_015662.3(IFT172):c.5068G>C (p.Gly1690Arg) rs200049734 0.00002
NM_015662.3(IFT172):c.529G>A (p.Val177Ile) rs754880269 0.00002
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp) rs772012378 0.00002
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter) rs767788330 0.00002
NM_020779.4(WDR35):c.1435A>G (p.Met479Val) rs797046099 0.00002
NM_020779.4(WDR35):c.1798A>G (p.Met600Val) rs751974091 0.00002
NM_020779.4(WDR35):c.670T>C (p.Cys224Arg) rs757871845 0.00002
NM_020779.4(WDR35):c.764A>G (p.Tyr255Cys) rs1228498799 0.00002
NM_020800.3(IFT80):c.377A>C (p.Glu126Ala) rs574860967 0.00002
NM_020800.3(IFT80):c.954G>A (p.Met318Ile) rs957922344 0.00002
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu) rs776138424 0.00002
NM_024753.5(TTC21B):c.1357A>G (p.Met453Val) rs754773733 0.00002
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00002
NM_024753.5(TTC21B):c.151+4C>T rs370743264 0.00002
NM_024753.5(TTC21B):c.1760A>G (p.His587Arg) rs372066887 0.00002
NM_024753.5(TTC21B):c.176A>C (p.Glu59Ala) rs769276420 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024753.5(TTC21B):c.2682T>G (p.Ser894=) rs776376597 0.00002
NM_024753.5(TTC21B):c.2741del (p.Cys914fs) rs754911118 0.00002
NM_024753.5(TTC21B):c.2858C>T (p.Ala953Val) rs775868164 0.00002
NM_024753.5(TTC21B):c.2868+9A>G rs1465172057 0.00002
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His) rs141708554 0.00002
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys) rs760729865 0.00002
NM_024753.5(TTC21B):c.318T>C (p.Ala106=) rs747777604 0.00002
NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val) rs367564721 0.00002
NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr) rs776721597 0.00002
NM_024753.5(TTC21B):c.3617T>C (p.Ile1206Thr) rs374240595 0.00002
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser) rs189519760 0.00002
NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys) rs1372232699 0.00002
NM_025132.4(WDR19):c.1357-8C>T rs754713889 0.00002
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) rs1482640692 0.00002
NM_025132.4(WDR19):c.1752T>C (p.Tyr584=) rs139391186 0.00002
NM_025132.4(WDR19):c.1904A>G (p.His635Arg) rs763696990 0.00002
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly) rs778896318 0.00002
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys) rs1470166429 0.00002
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys) rs769807270 0.00002
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu) rs766029437 0.00002
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg) rs376471437 0.00002
NM_025132.4(WDR19):c.3624C>T (p.Asn1208=) rs747334676 0.00002
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=) rs763555032 0.00002
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) rs777646123 0.00002
NM_052844.4(DYNC2I2):c.1174G>A (p.Gly392Ser) rs140484655 0.00002
NM_052989.3(IFT122):c.1148-1G>C rs755005244 0.00002
NM_052989.3(IFT122):c.1577G>A (p.Arg526His) rs754275024 0.00002
NM_052989.3(IFT122):c.1629C>T (p.Ile543=) rs372545849 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.2652G>A (p.Ala884=) rs201147770 0.00002
NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly) rs767833675 0.00002
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His) rs753932809 0.00002
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu) rs1269892119 0.00002
NM_052989.3(IFT122):c.3504G>C (p.Val1168=) rs368239028 0.00002
NM_052989.3(IFT122):c.42-17C>G rs752213678 0.00002
NM_052989.3(IFT122):c.511C>T (p.Arg171Trp) rs1064794186 0.00002
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser) rs971237623 0.00001
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln) rs756786140 0.00001
NM_001102564.3(IFT43):c.195T>A (p.Gly65=) rs766606545 0.00001
NM_001102564.3(IFT43):c.214_215+2del rs777112610 0.00001
NM_001102564.3(IFT43):c.29A>G (p.Glu10Gly) rs1023671414 0.00001
NM_001102564.3(IFT43):c.311C>T (p.Pro104Leu) rs144547737 0.00001
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe) rs756188997 0.00001
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys) rs749145719 0.00001
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser) rs1359937590 0.00001
NM_001102564.3(IFT43):c.368+17A>T rs759453395 0.00001
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile) rs1414874776 0.00001
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val) rs371422510 0.00001
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp) rs141866033 0.00001
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu) rs894168247 0.00001
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val) rs764790125 0.00001
NM_001199397.3(NEK1):c.2588-2A>G rs201769828 0.00001
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg) rs1301705612 0.00001
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly) rs770688785 0.00001
NM_001375405.1(CEP120):c.2606G>A (p.Arg869His) rs771132137 0.00001
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820 0.00001
NM_001377.3(DYNC2H1):c.10729C>T (p.Arg3577Ter) rs373536938 0.00001
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter) rs373335226 0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862 0.00001
NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter) rs772321133 0.00001
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn) rs756556129 0.00001
NM_001377.3(DYNC2H1):c.739C>T (p.Arg247Ter) rs561778796 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser) rs762588952 0.00001
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter) rs747857715 0.00001
NM_001377.3(DYNC2H1):c.9842T>C (p.Ile3281Thr) rs1204094235 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser) rs1818326433 0.00001
NM_001382391.1(CSPP1):c.1697+1G>T rs863225193 0.00001
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) rs754373519 0.00001
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro) rs770890983 0.00001
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met) rs762293142 0.00001
NM_014714.4(IFT140):c.1322G>A (p.Arg441His) rs776567773 0.00001
NM_014714.4(IFT140):c.1339A>G (p.Ser447Gly) rs1030260747 0.00001
NM_014714.4(IFT140):c.1359+17C>T rs767520111 0.00001
NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly) rs376263938 0.00001
NM_014714.4(IFT140):c.1418C>T (p.Ala473Val) rs765322119 0.00001
NM_014714.4(IFT140):c.1425G>C (p.Arg475=) rs1312262491 0.00001
NM_014714.4(IFT140):c.1433-15C>T rs749683523 0.00001
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu) rs770727161 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 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.1778A>C (p.Asn593Thr) rs775630184 0.00001
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn) rs138674110 0.00001
NM_014714.4(IFT140):c.1869G>C (p.Glu623Asp) rs2033705618 0.00001
NM_014714.4(IFT140):c.1901+5G>A rs999790368 0.00001
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272 0.00001
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys) rs778368172 0.00001
NM_014714.4(IFT140):c.2054G>A (p.Arg685His) rs370263158 0.00001
NM_014714.4(IFT140):c.2242C>T (p.His748Tyr) rs760427350 0.00001
NM_014714.4(IFT140):c.2279G>A (p.Arg760Gln) rs780086795 0.00001
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln) rs140458893 0.00001
NM_014714.4(IFT140):c.243G>T (p.Glu81Asp) rs1199982756 0.00001
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln) rs536061072 0.00001
NM_014714.4(IFT140):c.2455G>A (p.Val819Met) rs766515079 0.00001
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys) rs754073086 0.00001
NM_014714.4(IFT140):c.2545G>A (p.Val849Met) rs771662799 0.00001
NM_014714.4(IFT140):c.2578-2A>G rs2040685752 0.00001
NM_014714.4(IFT140):c.257C>T (p.Thr86Met) rs1159315989 0.00001
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458 0.00001
NM_014714.4(IFT140):c.2661G>A (p.Glu887=) rs1287846996 0.00001
NM_014714.4(IFT140):c.2683C>T (p.His895Tyr) rs934460322 0.00001
NM_014714.4(IFT140):c.2690G>A (p.Arg897His) rs745863942 0.00001
NM_014714.4(IFT140):c.2718C>G (p.Arg906=) rs780540683 0.00001
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser) rs566450108 0.00001
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys) rs143720412 0.00001
NM_014714.4(IFT140):c.2916C>T (p.Asp972=) rs148945612 0.00001
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val) rs745576178 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.3016G>A (p.Glu1006Lys) rs375292299 0.00001
NM_014714.4(IFT140):c.3131G>A (p.Arg1044His) rs577498082 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys) rs777230794 0.00001
NM_014714.4(IFT140):c.3234C>T (p.Gly1078=) rs200748918 0.00001
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr) rs760652531 0.00001
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu) rs772423904 0.00001
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln) rs780533679 0.00001
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg) rs754978656 0.00001
NM_014714.4(IFT140):c.3596G>A (p.Cys1199Tyr) rs535064774 0.00001
NM_014714.4(IFT140):c.3601C>T (p.Arg1201Cys) rs368685855 0.00001
NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn) rs771772194 0.00001
NM_014714.4(IFT140):c.3672G>A (p.Ala1224=) rs765766910 0.00001
NM_014714.4(IFT140):c.3704C>T (p.Thr1235Met) rs767997025 0.00001
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=) rs769211167 0.00001
NM_014714.4(IFT140):c.3864T>C (p.Ala1288=) rs1181821502 0.00001
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.3874-1G>A rs749563050 0.00001
NM_014714.4(IFT140):c.3876G>A (p.Val1292=) rs986239975 0.00001
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg) rs755596826 0.00001
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu) rs776809726 0.00001
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val) rs376151586 0.00001
NM_014714.4(IFT140):c.4056C>T (p.Asp1352=) rs140265753 0.00001
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg) rs907401737 0.00001
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter) rs762817061 0.00001
NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro) rs559371453 0.00001
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met) rs756711276 0.00001
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn) rs777181948 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014714.4(IFT140):c.489C>T (p.Gly163=) rs776597097 0.00001
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) rs555382397 0.00001
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe) rs1442341163 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_014714.4(IFT140):c.883G>A (p.Val295Ile) rs762792738 0.00001
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn) rs768285987 0.00001
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) rs200705429 0.00001
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) rs764091969 0.00001
NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys) rs749207320 0.00001
NM_015662.3(IFT172):c.1099C>T (p.Arg367Cys) rs755816980 0.00001
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg) rs745554539 0.00001
NM_015662.3(IFT172):c.1295G>A (p.Arg432His) rs1327376049 0.00001
NM_015662.3(IFT172):c.1314C>G (p.Pro438=) rs1435972299 0.00001
NM_015662.3(IFT172):c.1417C>G (p.Leu473Val) rs772607856 0.00001
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile) rs771104054 0.00001
NM_015662.3(IFT172):c.1522C>T (p.Arg508Cys) rs371011000 0.00001
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.1609G>A (p.Val537Met) rs868020223 0.00001
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr) rs780205001 0.00001
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln) rs764302265 0.00001
NM_015662.3(IFT172):c.178A>G (p.Met60Val) rs758377122 0.00001
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr) rs147288623 0.00001
NM_015662.3(IFT172):c.1929T>C (p.Ile643=) rs375541145 0.00001
NM_015662.3(IFT172):c.2025C>T (p.Gly675=) rs762659921 0.00001
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) rs144645349 0.00001
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys) rs187728607 0.00001
NM_015662.3(IFT172):c.2221C>T (p.Arg741Cys) rs984586780 0.00001
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val) rs145926013 0.00001
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) rs202024173 0.00001
NM_015662.3(IFT172):c.239A>C (p.Lys80Thr) rs766853711 0.00001
NM_015662.3(IFT172):c.2413G>T (p.Ala805Ser) rs1387032631 0.00001
NM_015662.3(IFT172):c.2442+13C>T rs749766704 0.00001
NM_015662.3(IFT172):c.2452C>T (p.Leu818Phe) rs374015331 0.00001
NM_015662.3(IFT172):c.2498G>A (p.Arg833His) rs756767071 0.00001
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter) rs761095604 0.00001
NM_015662.3(IFT172):c.2548C>G (p.Pro850Ala) rs1401639649 0.00001
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr) rs776148073 0.00001
NM_015662.3(IFT172):c.270C>A (p.Ile90=) rs759058747 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_015662.3(IFT172):c.2796G>A (p.Glu932=) rs566830176 0.00001
NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu) rs1271431771 0.00001
NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr) rs1009534874 0.00001
NM_015662.3(IFT172):c.2981A>G (p.Tyr994Cys) rs994624984 0.00001
NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala) rs569281478 0.00001
NM_015662.3(IFT172):c.3052C>T (p.Arg1018Cys) rs1358114348 0.00001
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr) rs560379580 0.00001
NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp) rs148997142 0.00001
NM_015662.3(IFT172):c.3226A>G (p.Arg1076Gly) rs770486522 0.00001
NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg) rs1008321384 0.00001
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser) rs146615936 0.00001
NM_015662.3(IFT172):c.337-11C>T rs745921292 0.00001
NM_015662.3(IFT172):c.338G>A (p.Ser113Asn) rs778306652 0.00001
NM_015662.3(IFT172):c.3530+11C>G rs777469179 0.00001
NM_015662.3(IFT172):c.354G>A (p.Leu118=) rs757988462 0.00001
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp) rs779395435 0.00001
NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val) rs1665910456 0.00001
NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg) rs765703265 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=) rs764778967 0.00001
NM_015662.3(IFT172):c.4014A>G (p.Val1338=) rs527544045 0.00001
NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr) rs766061673 0.00001
NM_015662.3(IFT172):c.403G>A (p.Val135Ile) rs201476743 0.00001
NM_015662.3(IFT172):c.4095C>T (p.Ile1365=) rs747729113 0.00001
NM_015662.3(IFT172):c.4134G>A (p.Lys1378=) rs1039315733 0.00001
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu) rs760582917 0.00001
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala) rs761701917 0.00001
NM_015662.3(IFT172):c.4417G>A (p.Ala1473Thr) rs749834823 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4539+11G>A rs756814532 0.00001
NM_015662.3(IFT172):c.4539+6G>A rs745480523 0.00001
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys) rs764604255 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser) rs777980611 0.00001
NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile) rs762958757 0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) rs201840472 0.00001
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln) rs549415233 0.00001
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln) rs749884570 0.00001
NM_015662.3(IFT172):c.4999C>T (p.Arg1667Cys) rs757212554 0.00001
NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser) rs775285304 0.00001
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe) rs917873749 0.00001
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys) rs868748622 0.00001
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu) rs146309780 0.00001
NM_015662.3(IFT172):c.5182C>A (p.Gln1728Lys) rs753075654 0.00001
NM_020779.4(WDR35):c.1088C>T (p.Thr363Met) rs200341288 0.00001
NM_020779.4(WDR35):c.10T>C (p.Tyr4His) rs772365561 0.00001
NM_020779.4(WDR35):c.1310C>T (p.Ala437Val) rs1671332812 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_020779.4(WDR35):c.1662A>T (p.Gly554=) rs767878828 0.00001
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala) rs758919526 0.00001
NM_020779.4(WDR35):c.2555C>T (p.Ala852Val) rs772896944 0.00001
NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly) rs199849430 0.00001
NM_020779.4(WDR35):c.2780G>A (p.Arg927Gln) rs754997630 0.00001
NM_020779.4(WDR35):c.2900T>C (p.Ile967Thr) rs776936691 0.00001
NM_020779.4(WDR35):c.308G>T (p.Gly103Val) rs886055406 0.00001
NM_020779.4(WDR35):c.3122-3T>C rs751769266 0.00001
NM_020779.4(WDR35):c.3190G>A (p.Ala1064Thr) rs759338583 0.00001
NM_020779.4(WDR35):c.626G>A (p.Gly209Glu) rs1410550467 0.00001
NM_020800.3(IFT80):c.1219C>T (p.Pro407Ser) rs1345262813 0.00001
NM_020800.3(IFT80):c.1627G>A (p.Asp543Asn) rs535870220 0.00001
NM_020800.3(IFT80):c.1715C>T (p.Thr572Ile) rs751538474 0.00001
NM_020800.3(IFT80):c.1836+5T>C rs373116334 0.00001
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val) rs779103873 0.00001
NM_020800.3(IFT80):c.2048G>T (p.Gly683Val) rs1302753011 0.00001
NM_020800.3(IFT80):c.2179G>A (p.Gly727Ser) rs977361551 0.00001
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) rs375941259 0.00001
NM_020800.3(IFT80):c.639+5A>G rs527856744 0.00001
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys) rs373133351 0.00001
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.1088-1G>C rs753627675 0.00001
NM_024753.5(TTC21B):c.1301C>G (p.Pro434Arg) rs971283288 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1386+15G>A rs201281283 0.00001
NM_024753.5(TTC21B):c.1431C>G (p.Cys477Trp) rs751822992 0.00001
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825 0.00001
NM_024753.5(TTC21B):c.1543C>T (p.Leu515Phe) rs1246746208 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val) rs200916824 0.00001
NM_024753.5(TTC21B):c.1685A>G (p.Tyr562Cys) rs1686220039 0.00001
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) rs377128320 0.00001
NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile) rs144411419 0.00001
NM_024753.5(TTC21B):c.2324C>T (p.Ala775Val) rs753608608 0.00001
NM_024753.5(TTC21B):c.2441A>G (p.His814Arg) rs965238984 0.00001
NM_024753.5(TTC21B):c.2483T>C (p.Met828Thr) rs767841175 0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His) rs773555238 0.00001
NM_024753.5(TTC21B):c.2572C>G (p.Arg858Gly) rs895624584 0.00001
NM_024753.5(TTC21B):c.2698T>A (p.Tyr900Asn) rs1336338964 0.00001
NM_024753.5(TTC21B):c.2810G>T (p.Cys937Phe) rs184561530 0.00001
NM_024753.5(TTC21B):c.2866A>G (p.Met956Val) rs746138925 0.00001
NM_024753.5(TTC21B):c.2941C>T (p.Arg981Cys) rs749278599 0.00001
NM_024753.5(TTC21B):c.3032T>C (p.Met1011Thr) rs777427926 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_024753.5(TTC21B):c.3190A>T (p.Ile1064Leu) rs1004469692 0.00001
NM_024753.5(TTC21B):c.3350A>C (p.Gln1117Pro) rs148631747 0.00001
NM_024753.5(TTC21B):c.3358G>A (p.Val1120Ile) rs746123823 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln) rs987977269 0.00001
NM_024753.5(TTC21B):c.3545G>A (p.Arg1182His) rs199658616 0.00001
NM_024753.5(TTC21B):c.3551C>T (p.Ala1184Val) rs754751728 0.00001
NM_024753.5(TTC21B):c.3668G>T (p.Cys1223Phe) rs1225739712 0.00001
NM_024753.5(TTC21B):c.368G>A (p.Arg123His) rs370484375 0.00001
NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile) rs569067100 0.00001
NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu) rs756943619 0.00001
NM_024753.5(TTC21B):c.419G>A (p.Gly140Asp) rs779381150 0.00001
NM_024753.5(TTC21B):c.518A>C (p.Gln173Pro) rs775266613 0.00001
NM_024753.5(TTC21B):c.553-2A>G rs773580610 0.00001
NM_024753.5(TTC21B):c.572G>A (p.Arg191His) rs781486283 0.00001
NM_024753.5(TTC21B):c.894+13A>G rs780758585 0.00001
NM_024753.5(TTC21B):c.8C>T (p.Ser3Leu) rs1364155246 0.00001
NM_024753.5(TTC21B):c.914T>C (p.Ile305Thr) rs1217195888 0.00001
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala) rs745627337 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1350A>G (p.Leu450=) rs770470368 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) rs537283735 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.164+12A>G rs776617179 0.00001
NM_025132.4(WDR19):c.1716A>G (p.Val572=) rs1730484886 0.00001
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys) rs780273002 0.00001
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile) rs746795141 0.00001
NM_025132.4(WDR19):c.1982+2T>C rs780847651 0.00001
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr) rs780879248 0.00001
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser) rs370948119 0.00001
NM_025132.4(WDR19):c.2095C>T (p.Arg699Trp) rs886042728 0.00001
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile) rs1157984983 0.00001
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp) rs1170632040 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val) rs746141233 0.00001
NM_025132.4(WDR19):c.2646-5T>C rs771971475 0.00001
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr) rs1407602801 0.00001
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile) rs757105603 0.00001
NM_025132.4(WDR19):c.2876+10T>C rs773692164 0.00001
NM_025132.4(WDR19):c.2877-12A>G rs754511582 0.00001
NM_025132.4(WDR19):c.2948C>T (p.Ala983Val) rs1293022423 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3114+3T>C rs1275093466 0.00001
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu) rs763748984 0.00001
NM_025132.4(WDR19):c.3188G>A (p.Gly1063Asp) rs760222006 0.00001
NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp) rs369310189 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn) rs767727756 0.00001
NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr) rs778261943 0.00001
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met) rs368286694 0.00001
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val) rs571331592 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) rs1035768119 0.00001
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln) rs747065633 0.00001
NM_025132.4(WDR19):c.404T>C (p.Leu135Pro) rs1361187656 0.00001
NM_025132.4(WDR19):c.410A>G (p.Lys137Arg) rs763605734 0.00001
NM_025132.4(WDR19):c.42C>T (p.Gly14=) rs531575276 0.00001
NM_025132.4(WDR19):c.6+3A>G rs1415721879 0.00001
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala) rs757241775 0.00001
NM_025132.4(WDR19):c.8G>A (p.Arg3His) rs922584346 0.00001
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys) rs1729012449 0.00001
NM_052989.3(IFT122):c.1009G>C (p.Val337Leu) rs769712676 0.00001
NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn) rs768644199 0.00001
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp) rs774723842 0.00001
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter) rs1185183557 0.00001
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.2245A>T (p.Met749Leu) rs794727330 0.00001
NM_052989.3(IFT122):c.227G>A (p.Ser76Asn) rs1012943423 0.00001
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr) rs199856807 0.00001
NM_052989.3(IFT122):c.2437A>G (p.Thr813Ala) rs565504126 0.00001
NM_052989.3(IFT122):c.2536C>T (p.Arg846Cys) rs750010740 0.00001
NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser) rs767491295 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.410G>C (p.Cys137Ser) rs1278478989 0.00001
NM_052989.3(IFT122):c.748C>T (p.Arg250Cys) rs373212863 0.00001
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser) rs769781725 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.2343C>T (p.Gly781=) rs762082443 0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser) rs753942333 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_001102564.3(IFT43):c.103A>G (p.Asn35Asp)
NM_001102564.3(IFT43):c.128C>G (p.Ser43Cys)
NM_001102564.3(IFT43):c.147+18dup rs747593685
NM_001102564.3(IFT43):c.147+3G>A
NM_001102564.3(IFT43):c.164T>A (p.Leu55Ter)
NM_001102564.3(IFT43):c.16G>A (p.Asp6Asn)
NM_001102564.3(IFT43):c.175C>T (p.Arg59Ter)
NM_001102564.3(IFT43):c.20T>A (p.Leu7Ter)
NM_001102564.3(IFT43):c.215+18A>G
NM_001102564.3(IFT43):c.26A>G (p.Glu9Gly)
NM_001102564.3(IFT43):c.296-5654A>G
NM_001102564.3(IFT43):c.296-5686_296-5685del
NM_001102564.3(IFT43):c.296-5691_296-5687delinsAAAAA
NM_001102564.3(IFT43):c.299T>C (p.Ile100Thr)
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys) rs776120367
NM_001102564.3(IFT43):c.337G>C (p.Asp113His)
NM_001102564.3(IFT43):c.352G>A (p.Val118Met)
NM_001102564.3(IFT43):c.368+1G>A
NM_001102564.3(IFT43):c.369-11C>A
NM_001102564.3(IFT43):c.369-8del rs536027245
NM_001102564.3(IFT43):c.449G>A (p.Gly150Glu)
NM_001102564.3(IFT43):c.468C>T (p.Leu156=) rs563086463
NM_001102564.3(IFT43):c.477del (p.Val160fs)
NM_001102564.3(IFT43):c.507+4C>G
NM_001102564.3(IFT43):c.508-3C>T
NM_001102564.3(IFT43):c.55del (p.Arg19fs)
NM_001102564.3(IFT43):c.592_594del (p.Lys198del) rs753836897
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro) rs1330242492
NM_001199397.3(NEK1):c.1267G>A (p.Ala423Thr)
NM_001377.3(DYNC2H1):c.10093G>T (p.Glu3365Ter)
NM_001377.3(DYNC2H1):c.10094A>T (p.Glu3365Val) rs1864914192
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys) rs200710887
NM_001377.3(DYNC2H1):c.10241del (p.Asp3414fs)
NM_001377.3(DYNC2H1):c.10309G>T (p.Glu3437Ter)
NM_001377.3(DYNC2H1):c.10342C>T (p.Gln3448Ter)
NM_001377.3(DYNC2H1):c.10444C>T (p.Gln3482Ter)
NM_001377.3(DYNC2H1):c.10462-2A>G
NM_001377.3(DYNC2H1):c.10606-14A>G rs989023092
NM_001377.3(DYNC2H1):c.10798_10799del (p.Met3600fs)
NM_001377.3(DYNC2H1):c.10802T>G (p.Leu3601Ter)
NM_001377.3(DYNC2H1):c.10808A>C (p.Lys3603Thr)
NM_001377.3(DYNC2H1):c.10822C>T (p.Gln3608Ter)
NM_001377.3(DYNC2H1):c.10828dup (p.Ile3610fs)
NM_001377.3(DYNC2H1):c.11150_11151insT (p.Leu3718fs)
NM_001377.3(DYNC2H1):c.1129dup (p.Thr377fs)
NM_001377.3(DYNC2H1):c.11315G>A (p.Arg3772His)
NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT rs3834451
NM_001377.3(DYNC2H1):c.11462dup (p.Leu3821fs)
NM_001377.3(DYNC2H1):c.11565dup (p.Asp3856fs)
NM_001377.3(DYNC2H1):c.11578C>T (p.Arg3860Ter)
NM_001377.3(DYNC2H1):c.11587del (p.Ala3863fs)
NM_001377.3(DYNC2H1):c.11726-2del
NM_001377.3(DYNC2H1):c.12044_12048del (p.Ile4015fs)
NM_001377.3(DYNC2H1):c.12199C>T (p.Arg4067Ter)
NM_001377.3(DYNC2H1):c.12367-2A>G
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs) rs766816050
NM_001377.3(DYNC2H1):c.12480dup (p.Gln4161fs)
NM_001377.3(DYNC2H1):c.12538_12540del (p.Leu4180del)
NM_001377.3(DYNC2H1):c.12575del (p.Gly4192fs)
NM_001377.3(DYNC2H1):c.12813_12816dup (p.Thr4273fs)
NM_001377.3(DYNC2H1):c.1355_1358del (p.Ile452fs) rs1223907858
NM_001377.3(DYNC2H1):c.136_145delinsCC (p.Gly46fs)
NM_001377.3(DYNC2H1):c.1370T>G (p.Leu457Ter)
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.1552C>T (p.Gln518Ter)
NM_001377.3(DYNC2H1):c.1582A>T (p.Lys528Ter)
NM_001377.3(DYNC2H1):c.1661+1G>A
NM_001377.3(DYNC2H1):c.1662-2A>G
NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del) rs773897318
NM_001377.3(DYNC2H1):c.1857+1G>T
NM_001377.3(DYNC2H1):c.2026C>T (p.Gln676Ter)
NM_001377.3(DYNC2H1):c.2105del (p.Lys702fs)
NM_001377.3(DYNC2H1):c.216del (p.Asp73fs)
NM_001377.3(DYNC2H1):c.250G>T (p.Glu84Ter)
NM_001377.3(DYNC2H1):c.2561T>G (p.Leu854Ter)
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.2721T>A (p.Cys907Ter)
NM_001377.3(DYNC2H1):c.2818+1G>C rs1591316134
NM_001377.3(DYNC2H1):c.2946+1G>C
NM_001377.3(DYNC2H1):c.2992C>T (p.Arg998Ter)
NM_001377.3(DYNC2H1):c.2993_2994insTTCG (p.Thr999fs)
NM_001377.3(DYNC2H1):c.3022_3025del (p.Ile1008fs)
NM_001377.3(DYNC2H1):c.3148G>T (p.Glu1050Ter)
NM_001377.3(DYNC2H1):c.3178C>T (p.Gln1060Ter)
NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs) rs767206815
NM_001377.3(DYNC2H1):c.340C>T (p.Gln114Ter)
NM_001377.3(DYNC2H1):c.3843T>A (p.Tyr1281Ter)
NM_001377.3(DYNC2H1):c.385_392del (p.Asn129fs)
NM_001377.3(DYNC2H1):c.3907G>T (p.Gly1303Ter)
NM_001377.3(DYNC2H1):c.4075G>T (p.Gly1359Ter)
NM_001377.3(DYNC2H1):c.4185_4186delinsCT (p.Gly1396Ter)
NM_001377.3(DYNC2H1):c.4280del (p.Pro1427fs)
NM_001377.3(DYNC2H1):c.4379-5_4386del
NM_001377.3(DYNC2H1):c.4493del (p.Thr1498fs)
NM_001377.3(DYNC2H1):c.4567C>T (p.Arg1523Ter)
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs) rs1565359085
NM_001377.3(DYNC2H1):c.476T>A (p.Leu159Ter)
NM_001377.3(DYNC2H1):c.4838T>A (p.Leu1613Ter)
NM_001377.3(DYNC2H1):c.4968+1G>A
NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter) rs755464335
NM_001377.3(DYNC2H1):c.5165del (p.Lys1722fs)
NM_001377.3(DYNC2H1):c.5578C>T (p.Gln1860Ter)
NM_001377.3(DYNC2H1):c.5643_5646del (p.Arg1881fs)
NM_001377.3(DYNC2H1):c.5675-1G>A
NM_001377.3(DYNC2H1):c.6017del (p.Tyr2006fs)
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) rs1555057503
NM_001377.3(DYNC2H1):c.6140-5A>G
NM_001377.3(DYNC2H1):c.621del (p.Glu208fs)
NM_001377.3(DYNC2H1):c.6220C>T (p.Arg2074Ter)
NM_001377.3(DYNC2H1):c.6244G>T (p.Glu2082Ter)
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6254del (p.Gln2085fs)
NM_001377.3(DYNC2H1):c.626_642del (p.Phe209fs)
NM_001377.3(DYNC2H1):c.6477+1G>A rs756313208
NM_001377.3(DYNC2H1):c.6478-1G>A
NM_001377.3(DYNC2H1):c.6485_6486del (p.Tyr2162fs)
NM_001377.3(DYNC2H1):c.6805C>T (p.Gln2269Ter)
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.7053_7054del (p.Cys2351_Glu2352delinsTer)
NM_001377.3(DYNC2H1):c.7284T>A (p.Cys2428Ter)
NM_001377.3(DYNC2H1):c.7292+2del
NM_001377.3(DYNC2H1):c.7435C>T (p.Gln2479Ter) rs200989423
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.7858C>T (p.Arg2620Ter)
NM_001377.3(DYNC2H1):c.7894G>T (p.Glu2632Ter)
NM_001377.3(DYNC2H1):c.7903G>T (p.Glu2635Ter)
NM_001377.3(DYNC2H1):c.8122del (p.Gln2707_Val2708insTer)
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer) rs1565390180
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) rs770800903
NM_001377.3(DYNC2H1):c.8255A>C (p.Lys2752Thr)
NM_001377.3(DYNC2H1):c.8311+1G>A rs1555068270
NM_001377.3(DYNC2H1):c.8534del (p.Asn2845fs) rs431905507
NM_001377.3(DYNC2H1):c.8604dup (p.Pro2869fs)
NM_001377.3(DYNC2H1):c.8622del (p.Leu2876fs)
NM_001377.3(DYNC2H1):c.8832+1G>T
NM_001377.3(DYNC2H1):c.8933T>G (p.Leu2978Ter)
NM_001377.3(DYNC2H1):c.8946+1G>T
NM_001377.3(DYNC2H1):c.9093G>A (p.Trp3031Ter)
NM_001377.3(DYNC2H1):c.9157C>T (p.Arg3053Ter) rs1485345396
NM_001377.3(DYNC2H1):c.9382dup (p.Arg3128fs)
NM_001377.3(DYNC2H1):c.9638A>G (p.Tyr3213Cys) rs923729821
NM_001377.3(DYNC2H1):c.9870G>A (p.Trp3290Ter)
NM_001377.3(DYNC2H1):c.9893C>A (p.Ser3298Ter)
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_014714.4(IFT140):c.1001_1003del (p.Lys334_Val335delinsIle)
NM_014714.4(IFT140):c.1009+15C>T
NM_014714.4(IFT140):c.1009+18G>A
NM_014714.4(IFT140):c.1009+1G>T
NM_014714.4(IFT140):c.1010-6_1013del
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr) rs1188370536
NM_014714.4(IFT140):c.1102A>G (p.Arg368Gly)
NM_014714.4(IFT140):c.1103G>C (p.Arg368Thr) rs765706103
NM_014714.4(IFT140):c.1107G>A (p.Trp369Ter)
NM_014714.4(IFT140):c.1118C>A (p.Thr373Asn)
NM_014714.4(IFT140):c.1155+1G>A
NM_014714.4(IFT140):c.1158G>A (p.Trp386Ter)
NM_014714.4(IFT140):c.1218G>T (p.Glu406Asp)
NM_014714.4(IFT140):c.1229C>A (p.Ser410Ter)
NM_014714.4(IFT140):c.1245G>T (p.Gln415His)
NM_014714.4(IFT140):c.1264G>A (p.Val422Ile)
NM_014714.4(IFT140):c.1288_1289dup (p.Phe431fs)
NM_014714.4(IFT140):c.1290C>T (p.Cys430=)
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala)
NM_014714.4(IFT140):c.1357A>C (p.Lys453Gln)
NM_014714.4(IFT140):c.1359+1G>C
NM_014714.4(IFT140):c.1359_1359+3delinsAC rs2141816540
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr) rs747510464
NM_014714.4(IFT140):c.1369G>T (p.Ala457Ser)
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val) rs190034269
NM_014714.4(IFT140):c.1422_1423insAA (p.Arg475fs) rs2141800223
NM_014714.4(IFT140):c.1428T>C (p.Ser476=) rs771030841
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser) rs2034677396
NM_014714.4(IFT140):c.1432+1G>A
NM_014714.4(IFT140):c.1437CTT[1] (p.Phe480del)
NM_014714.4(IFT140):c.144G>C (p.Glu48Asp)
NM_014714.4(IFT140):c.1468C>A (p.His490Asn)
NM_014714.4(IFT140):c.148-16_148-15delinsGC rs2142043610
NM_014714.4(IFT140):c.1525-2_1525-1del
NM_014714.4(IFT140):c.1536_1539del (p.Lys512fs)
NM_014714.4(IFT140):c.1584C>A (p.Asp528Glu)
NM_014714.4(IFT140):c.1619T>A (p.Leu540Ter)
NM_014714.4(IFT140):c.1619dup (p.Leu540fs)
NM_014714.4(IFT140):c.1624C>T (p.His542Tyr)
NM_014714.4(IFT140):c.1625A>G (p.His542Arg)
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro) rs762399912
NM_014714.4(IFT140):c.1653-10del rs760597633
NM_014714.4(IFT140):c.166dup (p.Thr56fs)
NM_014714.4(IFT140):c.1687G>T (p.Ala563Ser)
NM_014714.4(IFT140):c.168_171del (p.His57fs)
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr) rs528350505
NM_014714.4(IFT140):c.1724T>A (p.Leu575Gln)
NM_014714.4(IFT140):c.1726C>G (p.Arg576Gly)
NM_014714.4(IFT140):c.1737C>T (p.Ser579=) rs1230491407
NM_014714.4(IFT140):c.175G>T (p.Glu59Ter)
NM_014714.4(IFT140):c.1770+15C>G rs374526643
NM_014714.4(IFT140):c.1770+1G>A
NM_014714.4(IFT140):c.177G>C (p.Glu59Asp) rs1431384802
NM_014714.4(IFT140):c.1823_1824del (p.Thr608fs)
NM_014714.4(IFT140):c.1842_1843insGGC (p.Phe614_Lys615insGly)
NM_014714.4(IFT140):c.1849G>A (p.Gly617Arg)
NM_014714.4(IFT140):c.1858G>A (p.Asp620Asn)
NM_014714.4(IFT140):c.1865G>A (p.Arg622Lys)
NM_014714.4(IFT140):c.1874T>C (p.Leu625Pro)
NM_014714.4(IFT140):c.188G>C (p.Arg63Pro) rs765411860
NM_014714.4(IFT140):c.1891G>C (p.Glu631Gln) rs777613696
NM_014714.4(IFT140):c.1924G>A (p.Gly642Arg)
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp) rs540658203
NM_014714.4(IFT140):c.1944del (p.Pro648_Val649insTer)
NM_014714.4(IFT140):c.1945G>A (p.Val649Met) rs534052238
NM_014714.4(IFT140):c.1963C>T (p.Gln655Ter)
NM_014714.4(IFT140):c.1968_1969delinsCT (p.Glu657Ter)
NM_014714.4(IFT140):c.2000A>G (p.Gln667Arg)
NM_014714.4(IFT140):c.2011C>T (p.Arg671Cys)
NM_014714.4(IFT140):c.2068-2A>G rs1489989834
NM_014714.4(IFT140):c.2129G>T (p.Ser710Ile)
NM_014714.4(IFT140):c.2143G>T (p.Ala715Ser)
NM_014714.4(IFT140):c.2158C>T (p.Leu720Phe)
NM_014714.4(IFT140):c.2203G>A (p.Glu735Lys)
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_014714.4(IFT140):c.2259G>A (p.Met753Ile) rs2033203151
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) rs1555486629
NM_014714.4(IFT140):c.2305G>C (p.Asp769His)
NM_014714.4(IFT140):c.2317C>T (p.Arg773Trp)
NM_014714.4(IFT140):c.2348T>A (p.Val783Asp)
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met) rs2033196611
NM_014714.4(IFT140):c.2399+6G>T
NM_014714.4(IFT140):c.2400-12G>A rs186193750
NM_014714.4(IFT140):c.2400-13_2409del
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.2434G>A (p.Val812Met)
NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter) rs2141185231
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr) rs2141185138
NM_014714.4(IFT140):c.2464del (p.Val822fs)
NM_014714.4(IFT140):c.2469C>T (p.Cys823=)
NM_014714.4(IFT140):c.2475G>T (p.Gly825=)
NM_014714.4(IFT140):c.2483del (p.Gly828fs)
NM_014714.4(IFT140):c.2494G>T (p.Gly832Trp)
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter) rs777399400
NM_014714.4(IFT140):c.2516C>A (p.Ala839Glu)
NM_014714.4(IFT140):c.2548dup (p.Ala850fs)
NM_014714.4(IFT140):c.2550C>G (p.Ala850=) rs2745180
NM_014714.4(IFT140):c.2554C>G (p.Leu852Val)
NM_014714.4(IFT140):c.2572A>T (p.Met858Leu)
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.258G>A (p.Thr86=) rs766569165
NM_014714.4(IFT140):c.2605T>A (p.Cys869Ser)
NM_014714.4(IFT140):c.2612G>A (p.Arg871His) rs905240853
NM_014714.4(IFT140):c.2617G>C (p.Asp873His) rs560840162
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser) rs775517181
NM_014714.4(IFT140):c.2638C>T (p.Gln880Ter)
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.2655del (p.Trp885fs) rs762111572
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2682C>A (p.His894Gln) rs774192784
NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)
NM_014714.4(IFT140):c.268A>G (p.Lys90Glu)
NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys) rs755504361
NM_014714.4(IFT140):c.2717G>T (p.Arg906Leu)
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_014714.4(IFT140):c.2769-1G>T
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) rs200561100
NM_014714.4(IFT140):c.2828_2829dup (p.Ser944fs)
NM_014714.4(IFT140):c.2864+1G>A
NM_014714.4(IFT140):c.2865-8G>T
NM_014714.4(IFT140):c.2872_2875delinsGT (p.Trp958fs)
NM_014714.4(IFT140):c.2882G>A (p.Trp961Ter)
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del) rs1489901262
NM_014714.4(IFT140):c.290C>T (p.Thr97Met)
NM_014714.4(IFT140):c.2941G>A (p.Ala981Thr)
NM_014714.4(IFT140):c.2948del (p.Asp983fs) rs2141172226
NM_014714.4(IFT140):c.2997+13C>T
NM_014714.4(IFT140):c.2997+6G>T
NM_014714.4(IFT140):c.299del (p.Leu100fs)
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys) rs767290624
NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter)
NM_014714.4(IFT140):c.3079G>C (p.Gly1027Arg)
NM_014714.4(IFT140):c.308_309del (p.Thr103fs)
NM_014714.4(IFT140):c.3096C>G (p.Phe1032Leu)
NM_014714.4(IFT140):c.3109C>G (p.Gln1037Glu) rs774547622
NM_014714.4(IFT140):c.3130C>T (p.Arg1044Cys)
NM_014714.4(IFT140):c.3142_3144del rs754866110
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn) rs148194893
NM_014714.4(IFT140):c.316A>G (p.Ile106Val) rs1465706247
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.3219C>A (p.Tyr1073Ter)
NM_014714.4(IFT140):c.3222C>G (p.Tyr1074Ter)
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser) rs140159548
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys) rs140159548
NM_014714.4(IFT140):c.3299T>C (p.Leu1100Pro)
NM_014714.4(IFT140):c.3325_3327dup (p.Ala1109_Leu1110insAla)
NM_014714.4(IFT140):c.332G>A (p.Trp111Ter)
NM_014714.4(IFT140):c.3338T>C (p.Ile1113Thr)
NM_014714.4(IFT140):c.3352G>T (p.Asp1118Tyr)
NM_014714.4(IFT140):c.3368C>T (p.Pro1123Leu) rs781672845
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val) rs370255916
NM_014714.4(IFT140):c.3453G>C (p.Lys1151Asn)
NM_014714.4(IFT140):c.3454-1G>A
NM_014714.4(IFT140):c.347A>T (p.Asn116Ile)
NM_014714.4(IFT140):c.3484C>T (p.Gln1162Ter)
NM_014714.4(IFT140):c.3522G>T (p.Met1174Ile)
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=) rs752664070
NM_014714.4(IFT140):c.3565C>T (p.Arg1189Trp)
NM_014714.4(IFT140):c.3566G>T (p.Arg1189Leu) rs149837281
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val) rs566568065
NM_014714.4(IFT140):c.3600G>A (p.Met1200Ile)
NM_014714.4(IFT140):c.3611G>A (p.Ser1204Asn)
NM_014714.4(IFT140):c.3635A>G (p.Tyr1212Cys)
NM_014714.4(IFT140):c.3649A>C (p.Asn1217His)
NM_014714.4(IFT140):c.3674T>C (p.Leu1225Pro)
NM_014714.4(IFT140):c.370-20G>C rs200779129
NM_014714.4(IFT140):c.370-2A>T
NM_014714.4(IFT140):c.3701T>C (p.Ile1234Thr)
NM_014714.4(IFT140):c.3712G>A (p.Ala1238Thr) rs376953801
NM_014714.4(IFT140):c.3712G>T (p.Ala1238Ser)
NM_014714.4(IFT140):c.3777del (p.Trp1259fs)
NM_014714.4(IFT140):c.3810C>G (p.Ile1270Met) rs557923123
NM_014714.4(IFT140):c.3829C>T (p.Arg1277Trp)
NM_014714.4(IFT140):c.390G>A (p.Trp130Ter)
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3932A>G (p.Tyr1311Cys)
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4]) rs746697405
NM_014714.4(IFT140):c.3954_3960delinsC (p.Lys1318_Lys1320delinsAsn)
NM_014714.4(IFT140):c.3963_3978del (p.Ser1321fs)
NM_014714.4(IFT140):c.3981del (p.Arg1328fs) rs1431530916
NM_014714.4(IFT140):c.4009G>A (p.Ala1337Thr)
NM_014714.4(IFT140):c.4041-10C>T
NM_014714.4(IFT140):c.4041-2A>G
NM_014714.4(IFT140):c.4078T>A (p.Cys1360Ser)
NM_014714.4(IFT140):c.4123A>G (p.Ile1375Val) rs1258339035
NM_014714.4(IFT140):c.4159G>A (p.Val1387Met) rs142668269
NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu) rs142668269
NM_014714.4(IFT140):c.4183-11C>T rs776525322
NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del) rs754312950
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=) rs143920103
NM_014714.4(IFT140):c.4233G>T (p.Met1411Ile)
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp) rs138697817
NM_014714.4(IFT140):c.4286T>C (p.Leu1429Pro)
NM_014714.4(IFT140):c.4323dup (p.Asn1442fs) rs2141088947
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del) rs760889117
NM_014714.4(IFT140):c.4351G>C (p.Asp1451His)
NM_014714.4(IFT140):c.4375G>T (p.Asp1459Tyr)
NM_014714.4(IFT140):c.458C>T (p.Thr153Met)
NM_014714.4(IFT140):c.474G>C (p.Arg158=) rs145287241
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr) rs148462329
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) rs148462329
NM_014714.4(IFT140):c.482C>A (p.Pro161His) rs191927317
NM_014714.4(IFT140):c.482C>G (p.Pro161Arg)
NM_014714.4(IFT140):c.482C>T (p.Pro161Leu) rs191927317
NM_014714.4(IFT140):c.482dup (p.Pro162fs) rs763737398
NM_014714.4(IFT140):c.485C>T (p.Pro162Leu)
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter) rs559314300
NM_014714.4(IFT140):c.494A>G (p.Asp165Gly)
NM_014714.4(IFT140):c.565del (p.Ser189fs)
NM_014714.4(IFT140):c.643C>T (p.His215Tyr)
NM_014714.4(IFT140):c.652G>A (p.Asp218Asn)
NM_014714.4(IFT140):c.662del (p.Gly221fs)
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) rs752659125
NM_014714.4(IFT140):c.710T>C (p.Phe237Ser)
NM_014714.4(IFT140):c.739del (p.Val247fs)
NM_014714.4(IFT140):c.742del (p.Val248fs)
NM_014714.4(IFT140):c.74C>G (p.Pro25Arg)
NM_014714.4(IFT140):c.802G>A (p.Val268Met)
NM_014714.4(IFT140):c.810+1G>A
NM_014714.4(IFT140):c.811-2A>G
NM_014714.4(IFT140):c.857T>C (p.Ile286Thr)
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4(IFT140):c.882C>A (p.Ala294=)
NM_014714.4(IFT140):c.902+87T>C
NM_014714.4(IFT140):c.909G>A (p.Trp303Ter)
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter) rs1307461796
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg)
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) rs758052767
NM_014714.4(IFT140):c.995A>C (p.Tyr332Ser)
NM_014714.4(IFT140):c.996C>G (p.Tyr332Ter)
NM_015631.6(TCTN3):c.1096-2A>G
NM_015631.6(TCTN3):c.118del (p.Arg40fs)
NM_015631.6(TCTN3):c.1476T>A (p.Cys492Ter)
NM_015631.6(TCTN3):c.182dup (p.Gly62fs) rs763132585
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_015631.6(TCTN3):c.393G>A (p.Trp131Ter)
NM_015631.6(TCTN3):c.443C>G (p.Ser148Ter)
NM_015631.6(TCTN3):c.622dup (p.Tyr208fs)
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs) rs749018985
NM_015631.6(TCTN3):c.710del (p.Gly237fs) rs779729881
NM_015631.6(TCTN3):c.776dup (p.Lys260fs)
NM_015631.6(TCTN3):c.888+2T>C
NM_015662.3(IFT172):c.1005+16G>A
NM_015662.3(IFT172):c.1006G>A (p.Val336Met)
NM_015662.3(IFT172):c.1042G>A (p.Val348Met)
NM_015662.3(IFT172):c.1060G>T (p.Gly354Cys)
NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer) rs1453282096
NM_015662.3(IFT172):c.113G>A (p.Arg38Gln) rs552861632
NM_015662.3(IFT172):c.1176G>C (p.Trp392Cys)
NM_015662.3(IFT172):c.1304del (p.Phe435fs)
NM_015662.3(IFT172):c.1310_1311insAAA (p.Met436_Asn437insLys)
NM_015662.3(IFT172):c.1330C>G (p.Arg444Gly)
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys) rs1038040281
NM_015662.3(IFT172):c.1336_1338del (p.Asn446del)
NM_015662.3(IFT172):c.1337A>G (p.Asn446Ser)
NM_015662.3(IFT172):c.133G>T (p.Glu45Ter)
NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs) rs1558404443
NM_015662.3(IFT172):c.137A>T (p.His46Leu)
NM_015662.3(IFT172):c.1411+2T>C
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val) rs1667635292
NM_015662.3(IFT172):c.1459C>T (p.Arg487Cys)
NM_015662.3(IFT172):c.1510G>C (p.Asp504His)
NM_015662.3(IFT172):c.1525-2A>G
NM_015662.3(IFT172):c.1525-6C>G rs201231401
NM_015662.3(IFT172):c.1532T>C (p.Leu511Pro)
NM_015662.3(IFT172):c.1535A>G (p.Tyr512Cys)
NM_015662.3(IFT172):c.1590G>T (p.Gln530His)
NM_015662.3(IFT172):c.1627C>T (p.Arg543Ter)
NM_015662.3(IFT172):c.1636C>A (p.Leu546Met)
NM_015662.3(IFT172):c.1646G>C (p.Trp549Ser)
NM_015662.3(IFT172):c.1692+1G>A
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu) rs765731241
NM_015662.3(IFT172):c.1732G>C (p.Glu578Gln)
NM_015662.3(IFT172):c.1740G>A (p.Met580Ile)
NM_015662.3(IFT172):c.1789A>G (p.Ile597Val)
NM_015662.3(IFT172):c.1794G>C (p.Glu598Asp) rs147885790
NM_015662.3(IFT172):c.180G>T (p.Met60Ile)
NM_015662.3(IFT172):c.1835C>T (p.Thr612Ile)
NM_015662.3(IFT172):c.184-1G>A
NM_015662.3(IFT172):c.184-23dup rs747166252
NM_015662.3(IFT172):c.1846G>T (p.Glu616Ter)
NM_015662.3(IFT172):c.1849A>G (p.Thr617Ala) rs1403737174
NM_015662.3(IFT172):c.1871_1872del (p.Thr624fs)
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu) rs371919234
NM_015662.3(IFT172):c.1931C>T (p.Ala644Val) rs371919234
NM_015662.3(IFT172):c.1969G>A (p.Ala657Thr)
NM_015662.3(IFT172):c.196A>G (p.Ser66Gly)
NM_015662.3(IFT172):c.1999G>A (p.Ala667Thr) rs755632444
NM_015662.3(IFT172):c.2017G>C (p.Glu673Gln)
NM_015662.3(IFT172):c.2044T>G (p.Tyr682Asp)
NM_015662.3(IFT172):c.2060G>A (p.Arg687His)
NM_015662.3(IFT172):c.2074del (p.Glu692fs)
NM_015662.3(IFT172):c.2148G>T (p.Gln716His)
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.2193+4C>G
NM_015662.3(IFT172):c.2193+5C>T rs2148507369
NM_015662.3(IFT172):c.2201C>G (p.Pro734Arg)
NM_015662.3(IFT172):c.2212A>T (p.Lys738Ter)
NM_015662.3(IFT172):c.2234A>C (p.Gln745Pro) rs765641043
NM_015662.3(IFT172):c.2234A>T (p.Gln745Leu)
NM_015662.3(IFT172):c.2236T>G (p.Trp746Gly)
NM_015662.3(IFT172):c.2240T>C (p.Leu747Pro)
NM_015662.3(IFT172):c.2251C>T (p.Gln751Ter)
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro) rs78631901
NM_015662.3(IFT172):c.2308A>C (p.Ile770Leu)
NM_015662.3(IFT172):c.2354T>C (p.Leu785Pro)
NM_015662.3(IFT172):c.2363C>A (p.Thr788Asn)
NM_015662.3(IFT172):c.2368G>A (p.Glu790Lys)
NM_015662.3(IFT172):c.2414C>A (p.Ala805Asp)
NM_015662.3(IFT172):c.2430A>C (p.Glu810Asp)
NM_015662.3(IFT172):c.2443-1G>C
NM_015662.3(IFT172):c.2447G>C (p.Gly816Ala)
NM_015662.3(IFT172):c.2456_2457del (p.Leu818_Phe819insTer)
NM_015662.3(IFT172):c.249A>G (p.Ile83Met)
NM_015662.3(IFT172):c.2515A>C (p.Met839Leu)
NM_015662.3(IFT172):c.2537G>T (p.Arg846Leu)
NM_015662.3(IFT172):c.2539T>A (p.Leu847Met)
NM_015662.3(IFT172):c.2549C>A (p.Pro850Gln)
NM_015662.3(IFT172):c.2584dup (p.Asp862fs)
NM_015662.3(IFT172):c.2629_2630dup (p.Ile878fs)
NM_015662.3(IFT172):c.2632A>G (p.Ile878Val) rs1045778698
NM_015662.3(IFT172):c.2633T>C (p.Ile878Thr)
NM_015662.3(IFT172):c.2635G>A (p.Glu879Lys)
NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter) rs1309394469
NM_015662.3(IFT172):c.2672_2680del (p.Leu891_Ala893del) rs1169567028
NM_015662.3(IFT172):c.2674G>C (p.Gly892Arg)
NM_015662.3(IFT172):c.269T>A (p.Ile90Asn)
NM_015662.3(IFT172):c.2725A>T (p.Asn909Tyr)
NM_015662.3(IFT172):c.272A>G (p.Tyr91Cys)
NM_015662.3(IFT172):c.2788-10T>A
NM_015662.3(IFT172):c.2839A>G (p.Met947Val) rs774401568
NM_015662.3(IFT172):c.2864A>C (p.Glu955Ala)
NM_015662.3(IFT172):c.2900C>T (p.Pro967Leu)
NM_015662.3(IFT172):c.2915T>A (p.Val972Glu) rs2148498608
NM_015662.3(IFT172):c.2962C>T (p.Arg988Cys)
NM_015662.3(IFT172):c.2968G>C (p.Ala990Pro)
NM_015662.3(IFT172):c.2969C>T (p.Ala990Val)
NM_015662.3(IFT172):c.2975+3G>A
NM_015662.3(IFT172):c.2976-2A>T
NM_015662.3(IFT172):c.2989G>A (p.Val997Ile)
NM_015662.3(IFT172):c.3001G>C (p.Asp1001His) rs1666300541
NM_015662.3(IFT172):c.3031A>C (p.Lys1011Gln)
NM_015662.3(IFT172):c.303C>A (p.Asp101Glu)
NM_015662.3(IFT172):c.305A>C (p.Lys102Thr)
NM_015662.3(IFT172):c.3061G>A (p.Gly1021Arg)
NM_015662.3(IFT172):c.3079CTC[1] (p.Leu1028del)
NM_015662.3(IFT172):c.3111+1del
NM_015662.3(IFT172):c.3157C>G (p.Leu1053Val)
NM_015662.3(IFT172):c.3166C>G (p.Gln1056Glu) rs1666272023
NM_015662.3(IFT172):c.3181A>G (p.Thr1061Ala) rs550525758
NM_015662.3(IFT172):c.3218_3223delinsTACCTGA (p.Glu1073fs)
NM_015662.3(IFT172):c.3229-9G>T
NM_015662.3(IFT172):c.325T>C (p.Phe109Leu) rs542128061
NM_015662.3(IFT172):c.3332G>A (p.Gly1111Glu)
NM_015662.3(IFT172):c.333G>T (p.Gln111His)
NM_015662.3(IFT172):c.3369T>C (p.Asn1123=)
NM_015662.3(IFT172):c.3401G>A (p.Arg1134Gln) rs148624326
NM_015662.3(IFT172):c.3409C>G (p.Leu1137Val)
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp) rs935403723
NM_015662.3(IFT172):c.3465G>T (p.Glu1155Asp)
NM_015662.3(IFT172):c.3485A>T (p.Glu1162Val)
NM_015662.3(IFT172):c.3531-19T>C
NM_015662.3(IFT172):c.3559G>T (p.Ala1187Ser)
NM_015662.3(IFT172):c.3566G>C (p.Arg1189Pro)
NM_015662.3(IFT172):c.3582C>G (p.His1194Gln)
NM_015662.3(IFT172):c.3598G>A (p.Ala1200Thr) rs377521375
NM_015662.3(IFT172):c.3598G>T (p.Ala1200Ser)
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro) rs758387302
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp) rs532669006
NM_015662.3(IFT172):c.3637G>A (p.Glu1213Lys)
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=) rs892273103
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His) rs746597294
NM_015662.3(IFT172):c.3712-3C>T
NM_015662.3(IFT172):c.3712-5A>G
NM_015662.3(IFT172):c.3712G>A (p.Glu1238Lys)
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile) rs145507269
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del) rs763826196
NM_015662.3(IFT172):c.3808A>C (p.Lys1270Gln)
NM_015662.3(IFT172):c.3813G>T (p.Lys1271Asn)
NM_015662.3(IFT172):c.3814G>T (p.Gly1272Trp)
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val) rs543062539
NM_015662.3(IFT172):c.3880del (p.Arg1294fs)
NM_015662.3(IFT172):c.404T>C (p.Val135Ala)
NM_015662.3(IFT172):c.4107C>T (p.Ile1369=) rs747023555
NM_015662.3(IFT172):c.4116G>A (p.Glu1372=) rs758268726
NM_015662.3(IFT172):c.4124A>G (p.Asn1375Ser)
NM_015662.3(IFT172):c.4136G>T (p.Arg1379Leu)
NM_015662.3(IFT172):c.4185T>G (p.His1395Gln) rs148360112
NM_015662.3(IFT172):c.4223C>T (p.Ser1408Leu)
NM_015662.3(IFT172):c.4224+1G>A
NM_015662.3(IFT172):c.4262A>G (p.Tyr1421Cys)
NM_015662.3(IFT172):c.4280G>A (p.Trp1427Ter)
NM_015662.3(IFT172):c.4310A>G (p.Gln1437Arg)
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=) rs1455837031
NM_015662.3(IFT172):c.4462A>G (p.Met1488Val)
NM_015662.3(IFT172):c.4487G>T (p.Cys1496Phe) rs149435148
NM_015662.3(IFT172):c.44G>T (p.Gly15Val) rs1572838053
NM_015662.3(IFT172):c.4539+3G>C
NM_015662.3(IFT172):c.4540-11C>G
NM_015662.3(IFT172):c.455_462dup (p.Val155fs)
NM_015662.3(IFT172):c.4564G>C (p.Glu1522Gln)
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu) rs540171862
NM_015662.3(IFT172):c.461A>T (p.Tyr154Phe)
NM_015662.3(IFT172):c.4631G>A (p.Arg1544His)
NM_015662.3(IFT172):c.463G>A (p.Val155Met) rs149969430
NM_015662.3(IFT172):c.4660-12C>G
NM_015662.3(IFT172):c.4688C>T (p.Ser1563Leu)
NM_015662.3(IFT172):c.470C>T (p.Ser157Phe)
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs) rs2148467517
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=) rs369400518
NM_015662.3(IFT172):c.482+3_482+6del
NM_015662.3(IFT172):c.4914+1G>A
NM_015662.3(IFT172):c.4914+2dup
NM_015662.3(IFT172):c.4915-14_4915-12del
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) rs587777078
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del) rs1664979213
NM_015662.3(IFT172):c.4934T>C (p.Val1645Ala)
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val) rs529850410
NM_015662.3(IFT172):c.4969C>T (p.Arg1657Trp)
NM_015662.3(IFT172):c.5008T>C (p.Tyr1670His)
NM_015662.3(IFT172):c.5020C>G (p.Leu1674Val)
NM_015662.3(IFT172):c.502C>A (p.Leu168Ile)
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_015662.3(IFT172):c.509G>T (p.Gly170Val) rs770113267
NM_015662.3(IFT172):c.5120C>T (p.Ala1707Val)
NM_015662.3(IFT172):c.5161-5C>G
NM_015662.3(IFT172):c.5195A>C (p.Lys1732Thr)
NM_015662.3(IFT172):c.5234G>T (p.Ser1745Ile)
NM_015662.3(IFT172):c.548A>T (p.Asp183Val)
NM_015662.3(IFT172):c.571-3T>C
NM_015662.3(IFT172):c.619A>G (p.Thr207Ala)
NM_015662.3(IFT172):c.706C>G (p.Arg236Gly) rs146290725
NM_015662.3(IFT172):c.773G>A (p.Gly258Glu)
NM_015662.3(IFT172):c.786-14A>G
NM_015662.3(IFT172):c.786-18C>G rs773491435
NM_015662.3(IFT172):c.786-2A>T
NM_015662.3(IFT172):c.791G>T (p.Arg264Leu)
NM_015662.3(IFT172):c.79A>G (p.Asn27Asp)
NM_015662.3(IFT172):c.83A>G (p.Asn28Ser)
NM_015662.3(IFT172):c.854A>G (p.Asn285Ser) rs975683128
NM_015662.3(IFT172):c.85G>A (p.Ala29Thr)
NM_015662.3(IFT172):c.909+11A>G
NM_015662.3(IFT172):c.929T>C (p.Val310Ala)
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys) rs1002834084
NM_015662.3(IFT172):c.978dup (p.Glu327Ter)
NM_015662.3(IFT172):c.997C>T (p.Pro333Ser)
NM_015693.4(INTU):c.1450-9T>G rs73847044
NM_015693.4(INTU):c.683-16G>C rs56223823
NM_020779.4(WDR35):c.-15C>T
NM_020779.4(WDR35):c.1004A>G (p.Tyr335Cys)
NM_020779.4(WDR35):c.1028C>T (p.Thr343Ile)
NM_020779.4(WDR35):c.1109T>C (p.Val370Ala)
NM_020779.4(WDR35):c.1133C>G (p.Ser378Cys)
NM_020779.4(WDR35):c.1154T>G (p.Phe385Cys)
NM_020779.4(WDR35):c.1194+18T>G
NM_020779.4(WDR35):c.1204G>A (p.Val402Ile)
NM_020779.4(WDR35):c.1211G>C (p.Cys404Ser)
NM_020779.4(WDR35):c.1326A>G (p.Gln442=)
NM_020779.4(WDR35):c.1331G>A (p.Arg444His)
NM_020779.4(WDR35):c.1339A>G (p.Lys447Glu)
NM_020779.4(WDR35):c.1362del (p.Asn455fs) rs772534528
NM_020779.4(WDR35):c.1400+16C>G
NM_020779.4(WDR35):c.140C>T (p.Thr47Ile)
NM_020779.4(WDR35):c.143-17GTTTT[2]
NM_020779.4(WDR35):c.1437G>A (p.Met479Ile)
NM_020779.4(WDR35):c.145G>T (p.Asp49Tyr)
NM_020779.4(WDR35):c.1507G>C (p.Asp503His)
NM_020779.4(WDR35):c.1520T>G (p.Ile507Ser)
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys) rs1462353387
NM_020779.4(WDR35):c.1645A>G (p.Ile549Val)
NM_020779.4(WDR35):c.1650A>C (p.Ile550=)
NM_020779.4(WDR35):c.1651_1652insCAG (p.Ile550_Asp551insAla)
NM_020779.4(WDR35):c.1715A>G (p.Gln572Arg)
NM_020779.4(WDR35):c.1744C>T (p.Arg582Ter) rs778613849
NM_020779.4(WDR35):c.1745G>A (p.Arg582Gln)
NM_020779.4(WDR35):c.1862C>A (p.Ser621Tyr)
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)
NM_020779.4(WDR35):c.1906C>A (p.Leu636Ile)
NM_020779.4(WDR35):c.1937A>G (p.His646Arg)
NM_020779.4(WDR35):c.1985A>G (p.Asp662Gly)
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)
NM_020779.4(WDR35):c.2045A>G (p.Asn682Ser)
NM_020779.4(WDR35):c.2064-3A>C
NM_020779.4(WDR35):c.208C>G (p.His70Asp)
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) rs370797645
NM_020779.4(WDR35):c.213T>A (p.Ser71Arg)
NM_020779.4(WDR35):c.2142_2152del (p.Tyr714_Lys718delinsTer)
NM_020779.4(WDR35):c.2175A>C (p.Lys725Asn)
NM_020779.4(WDR35):c.2198A>G (p.Gln733Arg)
NM_020779.4(WDR35):c.2221G>A (p.Gly741Ser)
NM_020779.4(WDR35):c.2287C>T (p.Arg763Trp)
NM_020779.4(WDR35):c.2320del (p.Gln774fs)
NM_020779.4(WDR35):c.2326C>G (p.Leu776Val)
NM_020779.4(WDR35):c.2345A>G (p.Asp782Gly)
NM_020779.4(WDR35):c.2350G>A (p.Asp784Asn)
NM_020779.4(WDR35):c.2383A>G (p.Ile795Val)
NM_020779.4(WDR35):c.24+2T>C
NM_020779.4(WDR35):c.2411A>T (p.Lys804Met)
NM_020779.4(WDR35):c.2421T>G (p.Asn807Lys)
NM_020779.4(WDR35):c.2425G>T (p.Val809Leu)
NM_020779.4(WDR35):c.2459G>A (p.Arg820His)
NM_020779.4(WDR35):c.2471G>A (p.Cys824Tyr)
NM_020779.4(WDR35):c.2479A>G (p.Met827Val)
NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)
NM_020779.4(WDR35):c.2509dup (p.Leu837fs)
NM_020779.4(WDR35):c.2513C>G (p.Ala838Gly)
NM_020779.4(WDR35):c.2547+8T>A
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)
NM_020779.4(WDR35):c.2576G>T (p.Gly859Val)
NM_020779.4(WDR35):c.2614A>C (p.Ser872Arg)
NM_020779.4(WDR35):c.2636A>G (p.Asp879Gly)
NM_020779.4(WDR35):c.2686A>G (p.Asn896Asp)
NM_020779.4(WDR35):c.2701G>C (p.Glu901Gln)
NM_020779.4(WDR35):c.2789A>G (p.Asn930Ser)
NM_020779.4(WDR35):c.2828C>T (p.Ala943Val)
NM_020779.4(WDR35):c.2844del (p.Gly950fs)
NM_020779.4(WDR35):c.2858del (p.Pro953fs) rs397515334
NM_020779.4(WDR35):c.2875C>T (p.Leu959Phe)
NM_020779.4(WDR35):c.2918A>C (p.Gln973Pro)
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG
NM_020779.4(WDR35):c.2965-16C>T
NM_020779.4(WDR35):c.2976del (p.Leu993fs) rs1490771127
NM_020779.4(WDR35):c.3020G>A (p.Arg1007His)
NM_020779.4(WDR35):c.3022T>C (p.Phe1008Leu)
NM_020779.4(WDR35):c.307+20A>G
NM_020779.4(WDR35):c.308-18T>C
NM_020779.4(WDR35):c.308-1G>T
NM_020779.4(WDR35):c.3120A>G (p.Thr1040=)
NM_020779.4(WDR35):c.3122-11G>A
NM_020779.4(WDR35):c.3138C>G (p.Asp1046Glu)
NM_020779.4(WDR35):c.3157C>T (p.Pro1053Ser)
NM_020779.4(WDR35):c.324_325dup (p.Met109fs) rs745486923
NM_020779.4(WDR35):c.3278A>G (p.Gln1093Arg)
NM_020779.4(WDR35):c.3289C>G (p.Leu1097Val)
NM_020779.4(WDR35):c.32T>G (p.Ile11Ser)
NM_020779.4(WDR35):c.3362+6C>T
NM_020779.4(WDR35):c.3363-2A>C
NM_020779.4(WDR35):c.3387C>T (p.Cys1129=)
NM_020779.4(WDR35):c.3434G>A (p.Ser1145Asn)
NM_020779.4(WDR35):c.3438A>G (p.Val1146=)
NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)
NM_020779.4(WDR35):c.3449G>A (p.Gly1150Asp)
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala) rs1669900626
NM_020779.4(WDR35):c.356G>T (p.Arg119Leu)
NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)
NM_020779.4(WDR35):c.419T>C (p.Ile140Thr)
NM_020779.4(WDR35):c.43G>C (p.Val15Leu)
NM_020779.4(WDR35):c.469A>G (p.Ile157Val)
NM_020779.4(WDR35):c.498G>A (p.Ala166=)
NM_020779.4(WDR35):c.535G>A (p.Glu179Lys)
NM_020779.4(WDR35):c.571-11A>G
NM_020779.4(WDR35):c.590G>A (p.Cys197Tyr)
NM_020779.4(WDR35):c.593T>C (p.Leu198Ser)
NM_020779.4(WDR35):c.595G>C (p.Val199Leu)
NM_020779.4(WDR35):c.5TCT[1] (p.Phe3del)
NM_020779.4(WDR35):c.641A>G (p.His214Arg)
NM_020779.4(WDR35):c.658G>A (p.Val220Met) rs746602378
NM_020779.4(WDR35):c.721C>T (p.His241Tyr)
NM_020779.4(WDR35):c.737A>G (p.Asn246Ser)
NM_020779.4(WDR35):c.739C>A (p.Pro247Thr)
NM_020779.4(WDR35):c.752A>G (p.Asp251Gly)
NM_020779.4(WDR35):c.788A>G (p.His263Arg)
NM_020779.4(WDR35):c.829G>A (p.Ala277Thr)
NM_020779.4(WDR35):c.82T>A (p.Phe28Ile)
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)
NM_020779.4(WDR35):c.901G>T (p.Val301Phe)
NM_020779.4(WDR35):c.906del (p.Gly303fs)
NM_020779.4(WDR35):c.964G>A (p.Val322Ile)
NM_020800.3(IFT80):c.1067A>G (p.Tyr356Cys)
NM_020800.3(IFT80):c.1068C>T (p.Tyr356=)
NM_020800.3(IFT80):c.1076+6C>A rs1478232526
NM_020800.3(IFT80):c.1095del (p.Pro366fs)
NM_020800.3(IFT80):c.1139T>A (p.Leu380Gln)
NM_020800.3(IFT80):c.1144G>A (p.Ala382Thr)
NM_020800.3(IFT80):c.1249C>A (p.Leu417Met)
NM_020800.3(IFT80):c.1283C>A (p.Thr428Asn) rs770394750
NM_020800.3(IFT80):c.1319T>C (p.Ile440Thr)
NM_020800.3(IFT80):c.131C>A (p.Thr44Asn) rs1712527833
NM_020800.3(IFT80):c.1333G>A (p.Ala445Thr)
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val) rs1715047540
NM_020800.3(IFT80):c.135T>A (p.Ser45Arg)
NM_020800.3(IFT80):c.135T>G (p.Ser45Arg) rs762238566
NM_020800.3(IFT80):c.1380+1G>T
NM_020800.3(IFT80):c.1381-14dup rs762163693
NM_020800.3(IFT80):c.1420A>G (p.Thr474Ala) rs750126857
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)
NM_020800.3(IFT80):c.1484G>A (p.Arg495Gln)
NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys) rs555093543
NM_020800.3(IFT80):c.1583G>T (p.Arg528Leu)
NM_020800.3(IFT80):c.1689T>A (p.Ile563=)
NM_020800.3(IFT80):c.1831G>C (p.Val611Leu)
NM_020800.3(IFT80):c.1837-6_1837-2del rs780412409
NM_020800.3(IFT80):c.1889T>C (p.Met630Thr)
NM_020800.3(IFT80):c.1916C>T (p.Ala639Val)
NM_020800.3(IFT80):c.1918A>G (p.Ile640Val)
NM_020800.3(IFT80):c.1933A>G (p.Lys645Glu)
NM_020800.3(IFT80):c.1936G>T (p.Val646Phe) rs752617502
NM_020800.3(IFT80):c.1961dup (p.Asn654fs)
NM_020800.3(IFT80):c.1994del (p.Ile665fs)
NM_020800.3(IFT80):c.199A>G (p.Lys67Glu)
NM_020800.3(IFT80):c.1A>G (p.Met1Val)
NM_020800.3(IFT80):c.2018A>G (p.Gln673Arg)
NM_020800.3(IFT80):c.203G>A (p.Ser68Asn)
NM_020800.3(IFT80):c.2217A>G (p.Ala739=)
NM_020800.3(IFT80):c.2302C>T (p.Gln768Ter) rs778690591
NM_020800.3(IFT80):c.2313G>T (p.Lys771Asn)
NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys) rs1712517309
NM_020800.3(IFT80):c.248_249del (p.Thr83fs)
NM_020800.3(IFT80):c.24A>T (p.Leu8Phe)
NM_020800.3(IFT80):c.259+1G>T
NM_020800.3(IFT80):c.31C>T (p.Pro11Ser)
NM_020800.3(IFT80):c.328C>T (p.Leu110Phe)
NM_020800.3(IFT80):c.339A>G (p.Arg113=)
NM_020800.3(IFT80):c.35A>G (p.Lys12Arg)
NM_020800.3(IFT80):c.370+2T>G
NM_020800.3(IFT80):c.411dup (p.Met138fs) rs778324141
NM_020800.3(IFT80):c.440-2A>G rs1721846338
NM_020800.3(IFT80):c.521C>G (p.Pro174Arg)
NM_020800.3(IFT80):c.544_545dup (p.Leu182fs)
NM_020800.3(IFT80):c.549+4C>G
NM_020800.3(IFT80):c.550-3_550-2del
NM_020800.3(IFT80):c.563A>G (p.Asp188Gly)
NM_020800.3(IFT80):c.577A>G (p.Lys193Glu)
NM_020800.3(IFT80):c.593C>T (p.Ser198Leu)
NM_020800.3(IFT80):c.639G>A (p.Lys213=)
NM_020800.3(IFT80):c.64T>C (p.Trp22Arg) rs140499147
NM_020800.3(IFT80):c.650G>A (p.Ser217Asn)
NM_020800.3(IFT80):c.679C>G (p.Pro227Ala)
NM_020800.3(IFT80):c.701C>G (p.Ser234Ter)
NM_020800.3(IFT80):c.755dup (p.Leu252fs)
NM_020800.3(IFT80):c.758G>T (p.Arg253Leu)
NM_020800.3(IFT80):c.823A>G (p.Ile275Val)
NM_020800.3(IFT80):c.919A>C (p.Asn307His)
NM_020800.3(IFT80):c.946A>G (p.Arg316Gly)
NM_020800.3(IFT80):c.958-1G>T rs202051267
NM_024753.5(TTC21B):c.-82C>G rs543599575
NM_024753.5(TTC21B):c.1002G>T (p.Met334Ile)
NM_024753.5(TTC21B):c.1017A>C (p.Arg339Ser)
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.1048G>T (p.Ala350Ser) rs752711108
NM_024753.5(TTC21B):c.1088-1G>A
NM_024753.5(TTC21B):c.1088-7A>C
NM_024753.5(TTC21B):c.1088G>A (p.Gly363Glu)
NM_024753.5(TTC21B):c.1184C>T (p.Ala395Val)
NM_024753.5(TTC21B):c.1185+5A>G rs2105343665
NM_024753.5(TTC21B):c.1185G>T (p.Ala395=)
NM_024753.5(TTC21B):c.1201C>T (p.His401Tyr)
NM_024753.5(TTC21B):c.1216A>G (p.Met406Val)
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly) rs185089786
NM_024753.5(TTC21B):c.1274C>G (p.Thr425Ser)
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.1379C>T (p.Pro460Leu)
NM_024753.5(TTC21B):c.1469G>A (p.Gly490Asp)
NM_024753.5(TTC21B):c.151+20C>T
NM_024753.5(TTC21B):c.1517-5A>T
NM_024753.5(TTC21B):c.1523T>C (p.Ile508Thr) rs769248659
NM_024753.5(TTC21B):c.1565A>T (p.Asn522Ile)
NM_024753.5(TTC21B):c.1656_1659del (p.Leu551_Cys552insTer) rs2105329247
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly) rs1354455514
NM_024753.5(TTC21B):c.1709C>T (p.Ala570Val) rs1559058045
NM_024753.5(TTC21B):c.1713_1719delinsCAC (p.Gln571fs)
NM_024753.5(TTC21B):c.1736T>C (p.Ile579Thr)
NM_024753.5(TTC21B):c.1899+18T>G
NM_024753.5(TTC21B):c.1899G>A (p.Gln633=)
NM_024753.5(TTC21B):c.1954G>A (p.Glu652Lys)
NM_024753.5(TTC21B):c.2008A>G (p.Ile670Val)
NM_024753.5(TTC21B):c.202G>T (p.Asp68Tyr) rs1242719645
NM_024753.5(TTC21B):c.21+6_21+7insGGTGAGCAGGTGAGCG
NM_024753.5(TTC21B):c.21+9_21+10insGAGCGGGC
NM_024753.5(TTC21B):c.2101C>G (p.His701Asp)
NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala) rs1457311503
NM_024753.5(TTC21B):c.2135T>C (p.Phe712Ser)
NM_024753.5(TTC21B):c.2211+4A>G
NM_024753.5(TTC21B):c.2326A>G (p.Ile776Val)
NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys) rs1685925745
NM_024753.5(TTC21B):c.2434C>A (p.Leu812Ile)
NM_024753.5(TTC21B):c.2449G>T (p.Ala817Ser)
NM_024753.5(TTC21B):c.2458_2461+7del
NM_024753.5(TTC21B):c.248T>A (p.Met83Lys)
NM_024753.5(TTC21B):c.2509C>G (p.Leu837Val)
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.2533G>C (p.Glu845Gln)
NM_024753.5(TTC21B):c.2568+14T>A
NM_024753.5(TTC21B):c.2588G>A (p.Arg863Gln)
NM_024753.5(TTC21B):c.2590G>A (p.Val864Ile)
NM_024753.5(TTC21B):c.2599C>A (p.Arg867Ser)
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
NM_024753.5(TTC21B):c.2683G>A (p.Val895Ile)
NM_024753.5(TTC21B):c.270del (p.Ala91fs)
NM_024753.5(TTC21B):c.272C>G (p.Ala91Gly)
NM_024753.5(TTC21B):c.2774C>T (p.Ala925Val)
NM_024753.5(TTC21B):c.2777_2791del (p.Arg926_Ala930del) rs757389950
NM_024753.5(TTC21B):c.2814_2815delinsAA (p.Leu938_Arg939=) rs2105303218
NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu) rs1010771919
NM_024753.5(TTC21B):c.2951-1G>A
NM_024753.5(TTC21B):c.2975T>C (p.Leu992Ser) rs995750441
NM_024753.5(TTC21B):c.301G>C (p.Glu101Gln)
NM_024753.5(TTC21B):c.3040A>G (p.Lys1014Glu)
NM_024753.5(TTC21B):c.3087del (p.Gly1030fs) rs2105291970
NM_024753.5(TTC21B):c.3101+17A>G
NM_024753.5(TTC21B):c.310A>G (p.Lys104Glu)
NM_024753.5(TTC21B):c.311A>G (p.Lys104Arg)
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)
NM_024753.5(TTC21B):c.3144A>T (p.Lys1048Asn)
NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln) rs144103331
NM_024753.5(TTC21B):c.3149G>C (p.Arg1050Pro)
NM_024753.5(TTC21B):c.3165G>C (p.Trp1055Cys)
NM_024753.5(TTC21B):c.3167G>A (p.Gly1056Asp)
NM_024753.5(TTC21B):c.3185A>G (p.Asn1062Ser)
NM_024753.5(TTC21B):c.3192A>G (p.Ile1064Met)
NM_024753.5(TTC21B):c.3264-13T>G rs754946168
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter) rs1685080096
NM_024753.5(TTC21B):c.3344C>T (p.Thr1115Ile)
NM_024753.5(TTC21B):c.3362A>G (p.Gln1121Arg)
NM_024753.5(TTC21B):c.3364C>T (p.Leu1122Phe)
NM_024753.5(TTC21B):c.3451G>A (p.Ala1151Thr)
NM_024753.5(TTC21B):c.3467A>G (p.His1156Arg)
NM_024753.5(TTC21B):c.3476C>A (p.Ala1159Glu)
NM_024753.5(TTC21B):c.3487A>G (p.Met1163Val)
NM_024753.5(TTC21B):c.3490G>A (p.Ala1164Thr) rs374018043
NM_024753.5(TTC21B):c.354del (p.Leu118fs)
NM_024753.5(TTC21B):c.3562T>C (p.Trp1188Arg)
NM_024753.5(TTC21B):c.3665G>A (p.Arg1222Gln)
NM_024753.5(TTC21B):c.3683G>C (p.Arg1228Thr)
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu) rs1294549037
NM_024753.5(TTC21B):c.3724del (p.Glu1242fs)
NM_024753.5(TTC21B):c.3769G>A (p.Ala1257Thr)
NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile) rs371730439
NM_024753.5(TTC21B):c.3799G>A (p.Ala1267Thr)
NM_024753.5(TTC21B):c.3808T>A (p.Tyr1270Asn)
NM_024753.5(TTC21B):c.3857T>C (p.Ile1286Thr)
NM_024753.5(TTC21B):c.3871C>T (p.Gln1291Ter)
NM_024753.5(TTC21B):c.3874-13_3874-10del rs763460455
NM_024753.5(TTC21B):c.3890C>A (p.Pro1297Gln)
NM_024753.5(TTC21B):c.3892A>G (p.Thr1298Ala)
NM_024753.5(TTC21B):c.3909A>G (p.Arg1303=)
NM_024753.5(TTC21B):c.3917T>C (p.Ile1306Thr)
NM_024753.5(TTC21B):c.430G>A (p.Gly144Arg)
NM_024753.5(TTC21B):c.431del
NM_024753.5(TTC21B):c.436G>A (p.Val146Ile) rs373074238
NM_024753.5(TTC21B):c.436G>C (p.Val146Leu)
NM_024753.5(TTC21B):c.512G>C (p.Gly171Ala)
NM_024753.5(TTC21B):c.52T>G (p.Tyr18Asp)
NM_024753.5(TTC21B):c.553-13del rs749999474
NM_024753.5(TTC21B):c.553-3T>C
NM_024753.5(TTC21B):c.607C>T (p.Gln203Ter)
NM_024753.5(TTC21B):c.634C>T (p.Leu212Phe)
NM_024753.5(TTC21B):c.65T>C (p.Val22Ala)
NM_024753.5(TTC21B):c.671C>T (p.Ala224Val)
NM_024753.5(TTC21B):c.677A>C (p.Gln226Pro)
NM_024753.5(TTC21B):c.778G>T (p.Glu260Ter)
NM_024753.5(TTC21B):c.863T>C (p.Phe288Ser)
NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu) rs776784928
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys) rs1437304335
NM_024753.5(TTC21B):c.910C>G (p.Leu304Val)
NM_024753.5(TTC21B):c.924A>C (p.Lys308Asn)
NM_024753.5(TTC21B):c.928C>T (p.Gln310Ter)
NM_024753.5(TTC21B):c.932C>T (p.Thr311Met)
NM_024753.5(TTC21B):c.940G>A (p.Glu314Lys)
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698
NM_025132.4(WDR19):c.1134+1G>A
NM_025132.4(WDR19):c.1135-2A>G
NM_025132.4(WDR19):c.1148_1149del (p.Thr383fs)
NM_025132.4(WDR19):c.1174T>G (p.Phe392Val)
NM_025132.4(WDR19):c.1217A>G (p.Asn406Ser)
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) rs1729054259
NM_025132.4(WDR19):c.1314C>G (p.Asp438Glu)
NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys) rs539621646
NM_025132.4(WDR19):c.1379C>T (p.Ala460Val)
NM_025132.4(WDR19):c.137A>G (p.Gln46Arg)
NM_025132.4(WDR19):c.1388A>G (p.Glu463Gly)
NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)
NM_025132.4(WDR19):c.1417G>A (p.Asp473Asn)
NM_025132.4(WDR19):c.142A>G (p.Arg48Gly)
NM_025132.4(WDR19):c.143G>T (p.Arg48Ile)
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) rs1560503998
NM_025132.4(WDR19):c.1472G>A (p.Gly491Asp)
NM_025132.4(WDR19):c.1479T>C (p.Asp493=) rs1207013785
NM_025132.4(WDR19):c.1502A>G (p.Tyr501Cys)
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg) rs1335665760
NM_025132.4(WDR19):c.1582_1585dup (p.Leu529Ter)
NM_025132.4(WDR19):c.165T>G (p.Gly55=)
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr) rs1730480639
NM_025132.4(WDR19):c.1768A>G (p.Thr590Ala)
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.1791T>C (p.Ile597=) rs2109358310
NM_025132.4(WDR19):c.180G>A (p.Met60Ile)
NM_025132.4(WDR19):c.1833G>C (p.Leu611Phe)
NM_025132.4(WDR19):c.186G>A (p.Trp62Ter)
NM_025132.4(WDR19):c.194A>G (p.Asp65Gly)
NM_025132.4(WDR19):c.1994C>A (p.Ala665Asp)
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)
NM_025132.4(WDR19):c.2004G>A (p.Met668Ile)
NM_025132.4(WDR19):c.2051C>G (p.Ala684Gly)
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)
NM_025132.4(WDR19):c.2149G>C (p.Glu717Gln)
NM_025132.4(WDR19):c.2196T>G (p.Asp732Glu)
NM_025132.4(WDR19):c.2233T>G (p.Cys745Gly)
NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu) rs762043395
NM_025132.4(WDR19):c.2341T>C (p.Tyr781His)
NM_025132.4(WDR19):c.235A>G (p.Ile79Val)
NM_025132.4(WDR19):c.2364-13_2364-9del
NM_025132.4(WDR19):c.2364-2del
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2388_2392dup (p.Tyr798fs)
NM_025132.4(WDR19):c.2421+5C>A rs563302411
NM_025132.4(WDR19):c.2421+5C>T
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2491del (p.Val831fs)
NM_025132.4(WDR19):c.2519G>A (p.Arg840Lys)
NM_025132.4(WDR19):c.2528A>G (p.Lys843Arg)
NM_025132.4(WDR19):c.2558T>C (p.Met853Thr)
NM_025132.4(WDR19):c.257C>A (p.Thr86Lys)
NM_025132.4(WDR19):c.2599C>G (p.Leu867Val)
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2646-16G>T rs750485530
NM_025132.4(WDR19):c.2653G>A (p.Val885Ile)
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)
NM_025132.4(WDR19):c.2716del (p.Glu906fs)
NM_025132.4(WDR19):c.2730-1G>A
NM_025132.4(WDR19):c.2746G>A (p.Val916Ile)
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser) rs778487491
NM_025132.4(WDR19):c.2845C>T (p.Gln949Ter)
NM_025132.4(WDR19):c.2858G>C (p.Gly953Ala)
NM_025132.4(WDR19):c.2873C>T (p.Ala958Val)
NM_025132.4(WDR19):c.2876+10T>A rs773692164
NM_025132.4(WDR19):c.2877-13T>C
NM_025132.4(WDR19):c.291-2A>G
NM_025132.4(WDR19):c.2944G>A (p.Glu982Lys)
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)
NM_025132.4(WDR19):c.302C>A (p.Ser101Tyr) rs1381726098
NM_025132.4(WDR19):c.3068_3069del (p.Tyr1023fs)
NM_025132.4(WDR19):c.3084del (p.Lys1028fs)
NM_025132.4(WDR19):c.3184-12C>A
NM_025132.4(WDR19):c.3184-2A>C rs1020915921
NM_025132.4(WDR19):c.3193G>A (p.Ala1065Thr)
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3359G>T (p.Gly1120Val)
NM_025132.4(WDR19):c.3436G>T (p.Glu1146Ter)
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3483+19C>G
NM_025132.4(WDR19):c.3520C>T (p.Arg1174Cys)
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu) rs372719724
NM_025132.4(WDR19):c.3547A>T (p.Ile1183Phe)
NM_025132.4(WDR19):c.3548T>C (p.Ile1183Thr)
NM_025132.4(WDR19):c.355G>T (p.Gly119Ter)
NM_025132.4(WDR19):c.3566-6T>A
NM_025132.4(WDR19):c.3655A>G (p.Arg1219Gly)
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) rs1735748675
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3723del (p.Asp1242fs)
NM_025132.4(WDR19):c.373A>C (p.Asn125His)
NM_025132.4(WDR19):c.377A>G (p.His126Arg)
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys) rs1553919125
NM_025132.4(WDR19):c.3798dup (p.Cys1267fs)
NM_025132.4(WDR19):c.3917+6T>C
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=) rs564992065
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly) rs367721770
NM_025132.4(WDR19):c.4025T>C (p.Leu1342Pro)
NM_025132.4(WDR19):c.406+1G>T
NM_025132.4(WDR19):c.40G>A (p.Gly14Ser)
NM_025132.4(WDR19):c.415A>G (p.Thr139Ala)
NM_025132.4(WDR19):c.416C>A (p.Thr139Asn)
NM_025132.4(WDR19):c.467G>T (p.Gly156Val)
NM_025132.4(WDR19):c.513G>T (p.Thr171=) rs754543019
NM_025132.4(WDR19):c.523-1G>C
NM_025132.4(WDR19):c.6+6_6+8del rs748952637
NM_025132.4(WDR19):c.619G>A (p.Gly207Ser)
NM_025132.4(WDR19):c.632T>C (p.Leu211Ser)
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025132.4(WDR19):c.670G>C (p.Asp224His)
NM_025132.4(WDR19):c.717-1G>A
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) rs199812132
NM_025132.4(WDR19):c.821A>G (p.His274Arg)
NM_025132.4(WDR19):c.845C>A (p.Ala282Glu)
NM_025132.4(WDR19):c.952G>A (p.Glu318Lys)
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser) rs1728875659
NM_025132.4(WDR19):c.961+2T>C rs1728876351
NM_025132.4(WDR19):c.98+1G>A
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_052989.3(IFT122):c.-12A>G
NM_052989.3(IFT122):c.1027G>A (p.Gly343Ser)
NM_052989.3(IFT122):c.1028G>T (p.Gly343Val)
NM_052989.3(IFT122):c.1091C>T (p.Ala364Val)
NM_052989.3(IFT122):c.113A>G (p.Tyr38Cys)
NM_052989.3(IFT122):c.1174A>G (p.Lys392Glu)
NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln) rs1405512091
NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)
NM_052989.3(IFT122):c.1247C>A (p.Ser416Ter)
NM_052989.3(IFT122):c.124G>T (p.Asp42Tyr)
NM_052989.3(IFT122):c.1279A>T (p.Lys427Ter)
NM_052989.3(IFT122):c.1310A>T (p.Asn437Ile)
NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser)
NM_052989.3(IFT122):c.1351-13G>A
NM_052989.3(IFT122):c.137T>G (p.Leu46Arg)
NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln)
NM_052989.3(IFT122):c.1447C>G (p.Pro483Ala)
NM_052989.3(IFT122):c.1471G>C (p.Gly491Arg)
NM_052989.3(IFT122):c.1488+16C>T
NM_052989.3(IFT122):c.1564A>G (p.Met522Val)
NM_052989.3(IFT122):c.1591G>A (p.Val531Met)
NM_052989.3(IFT122):c.1610C>T (p.Thr537Ile)
NM_052989.3(IFT122):c.1651C>A (p.Gln551Lys)
NM_052989.3(IFT122):c.1653+3G>A
NM_052989.3(IFT122):c.1669A>G (p.Ser557Gly)
NM_052989.3(IFT122):c.1713G>A (p.Ser571=)
NM_052989.3(IFT122):c.1773G>C (p.Gln591His)
NM_052989.3(IFT122):c.1783_1784del (p.Val595fs)
NM_052989.3(IFT122):c.1800del (p.Lys601fs)
NM_052989.3(IFT122):c.1835C>T (p.Ala612Val)
NM_052989.3(IFT122):c.1837G>A (p.Val613Met)
NM_052989.3(IFT122):c.1851+3A>G
NM_052989.3(IFT122):c.1852-8T>C
NM_052989.3(IFT122):c.1853C>T (p.Ser618Phe)
NM_052989.3(IFT122):c.1858C>G (p.Pro620Ala)
NM_052989.3(IFT122):c.1878T>G (p.Asp626Glu)
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn) rs777051654
NM_052989.3(IFT122):c.1910_1929delinsGCGTG (p.Ala637_Asp643delinsGlyVal)
NM_052989.3(IFT122):c.1936T>C (p.Trp646Arg)
NM_052989.3(IFT122):c.194-8_194-7del
NM_052989.3(IFT122):c.1964_1966del (p.Glu655del)
NM_052989.3(IFT122):c.1992G>A (p.Lys664=)
NM_052989.3(IFT122):c.2036_2037delinsAA (p.Ser679Lys)
NM_052989.3(IFT122):c.2051G>A (p.Arg684Lys)
NM_052989.3(IFT122):c.2053A>C (p.Lys685Gln)
NM_052989.3(IFT122):c.2059C>T (p.Arg687Trp)
NM_052989.3(IFT122):c.2074A>G (p.Asn692Asp)
NM_052989.3(IFT122):c.2079C>T (p.Asp693=)
NM_052989.3(IFT122):c.20G>C (p.Trp7Ser)
NM_052989.3(IFT122):c.211G>A (p.Gly71Arg)
NM_052989.3(IFT122):c.2164G>A (p.Ala722Thr)
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val) rs143662777
NM_052989.3(IFT122):c.2182G>A (p.Asp728Asn)
NM_052989.3(IFT122):c.2191A>C (p.Met731Leu)
NM_052989.3(IFT122):c.2197G>C (p.Glu733Gln)
NM_052989.3(IFT122):c.2285A>G (p.Lys762Arg)
NM_052989.3(IFT122):c.2285del (p.Lys762fs) rs2081339145
NM_052989.3(IFT122):c.2297_2299delinsTCA (p.Ala766_Ala767delinsValThr)
NM_052989.3(IFT122):c.22A>T (p.Arg8Ter)
NM_052989.3(IFT122):c.2306A>G (p.Glu769Gly)
NM_052989.3(IFT122):c.2312A>G (p.Tyr771Cys)
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)
NM_052989.3(IFT122):c.2368G>A (p.Val790Ile)
NM_052989.3(IFT122):c.240G>A (p.Trp80Ter)
NM_052989.3(IFT122):c.2414G>A (p.Arg805His)
NM_052989.3(IFT122):c.2428C>G (p.Leu810Val)
NM_052989.3(IFT122):c.2434G>A (p.Ala812Thr)
NM_052989.3(IFT122):c.2441A>C (p.Tyr814Ser)
NM_052989.3(IFT122):c.2455G>C (p.Asp819His)
NM_052989.3(IFT122):c.2500C>T (p.Leu834Phe)
NM_052989.3(IFT122):c.2501T>C (p.Leu834Pro)
NM_052989.3(IFT122):c.2537G>A (p.Arg846His) rs370415289
NM_052989.3(IFT122):c.2537G>T (p.Arg846Leu)
NM_052989.3(IFT122):c.2547G>A (p.Glu849=)
NM_052989.3(IFT122):c.2559G>A (p.Leu853=)
NM_052989.3(IFT122):c.2569C>G (p.His857Asp)
NM_052989.3(IFT122):c.257G>A (p.Gly86Asp)
NM_052989.3(IFT122):c.25_26del (p.Arg8_Asp9insTer)
NM_052989.3(IFT122):c.2630G>A (p.Arg877His) rs561698295
NM_052989.3(IFT122):c.2645A>G (p.Gln882Arg)
NM_052989.3(IFT122):c.2650+1G>A
NM_052989.3(IFT122):c.2663C>A (p.Ala888Asp)
NM_052989.3(IFT122):c.2669G>A (p.Arg890Gln)
NM_052989.3(IFT122):c.2708_2711del (p.Asn903fs)
NM_052989.3(IFT122):c.2716G>A (p.Val906Met)
NM_052989.3(IFT122):c.272+1G>C
NM_052989.3(IFT122):c.2727C>T (p.Ser909=)
NM_052989.3(IFT122):c.272C>T (p.Thr91Met)
NM_052989.3(IFT122):c.273-263T>G
NM_052989.3(IFT122):c.273-274G>A
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_052989.3(IFT122):c.273-283A>G
NM_052989.3(IFT122):c.273-313G>C
NM_052989.3(IFT122):c.273-339_273-337del
NM_052989.3(IFT122):c.273-342A>G
NM_052989.3(IFT122):c.273-357C>G
NM_052989.3(IFT122):c.2780A>T (p.Asp927Val)
NM_052989.3(IFT122):c.278A>G (p.Asn93Ser)
NM_052989.3(IFT122):c.2792-14G>A
NM_052989.3(IFT122):c.2792-5A>T
NM_052989.3(IFT122):c.2803_2805del (p.Lys935del) rs746556063
NM_052989.3(IFT122):c.2807A>C (p.Asp936Ala)
NM_052989.3(IFT122):c.2812A>G (p.Met938Val)
NM_052989.3(IFT122):c.2839C>T (p.Arg947Cys)
NM_052989.3(IFT122):c.2866C>T (p.His956Tyr)
NM_052989.3(IFT122):c.2885C>A (p.Thr962Lys)
NM_052989.3(IFT122):c.2885C>T (p.Thr962Met)
NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly)
NM_052989.3(IFT122):c.2894C>T (p.Pro965Leu)
NM_052989.3(IFT122):c.2899A>G (p.Ser967Gly)
NM_052989.3(IFT122):c.2909G>T (p.Arg970Leu)
NM_052989.3(IFT122):c.2921T>C (p.Leu974Pro)
NM_052989.3(IFT122):c.2956C>T (p.Pro986Ser)
NM_052989.3(IFT122):c.2999T>A (p.Phe1000Tyr)
NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)
NM_052989.3(IFT122):c.3028G>A (p.Gly1010Ser)
NM_052989.3(IFT122):c.3055T>C (p.Tyr1019His)
NM_052989.3(IFT122):c.3079A>C (p.Ile1027Leu)
NM_052989.3(IFT122):c.3098del (p.Lys1033fs)
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys) rs555281580
NM_052989.3(IFT122):c.3153+16C>T
NM_052989.3(IFT122):c.3154-17C>A
NM_052989.3(IFT122):c.3175C>T (p.Arg1059Cys)
NM_052989.3(IFT122):c.3176G>A (p.Arg1059His)
NM_052989.3(IFT122):c.3213C>T (p.Gly1071=)
NM_052989.3(IFT122):c.3233G>A (p.Arg1078His)
NM_052989.3(IFT122):c.3249C>A (p.Phe1083Leu)
NM_052989.3(IFT122):c.3265+1G>A
NM_052989.3(IFT122):c.3278T>G (p.Leu1093Arg)
NM_052989.3(IFT122):c.329C>G (p.Ser110Cys)
NM_052989.3(IFT122):c.3301G>A (p.Gly1101Arg)
NM_052989.3(IFT122):c.3302G>C (p.Gly1101Ala)
NM_052989.3(IFT122):c.3307A>G (p.Thr1103Ala)
NM_052989.3(IFT122):c.3358C>T (p.Arg1120Trp)
NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)
NM_052989.3(IFT122):c.3391+1G>A
NM_052989.3(IFT122):c.3391+7A>T
NM_052989.3(IFT122):c.3407G>A (p.Arg1136Gln)
NM_052989.3(IFT122):c.3429dup (p.Ile1144fs)
NM_052989.3(IFT122):c.3450C>T (p.Phe1150=)
NM_052989.3(IFT122):c.3471+9G>A
NM_052989.3(IFT122):c.3472-5T>A
NM_052989.3(IFT122):c.3489C>G (p.Phe1163Leu)
NM_052989.3(IFT122):c.350-5dup
NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)
NM_052989.3(IFT122):c.3508C>T (p.Arg1170Trp)
NM_052989.3(IFT122):c.3520C>T (p.Arg1174Cys)
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)
NM_052989.3(IFT122):c.3586C>G (p.Arg1196Gly)
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys) rs201590142
NM_052989.3(IFT122):c.3616_3636+5del
NM_052989.3(IFT122):c.3623C>T (p.Pro1208Leu)
NM_052989.3(IFT122):c.3628T>G (p.Cys1210Gly)
NM_052989.3(IFT122):c.3656A>G (p.Tyr1219Cys)
NM_052989.3(IFT122):c.3664C>T (p.Leu1222=)
NM_052989.3(IFT122):c.3676C>G (p.His1226Asp)
NM_052989.3(IFT122):c.3679G>T (p.Gly1227Cys)
NM_052989.3(IFT122):c.3692A>C (p.Tyr1231Ser)
NM_052989.3(IFT122):c.3709G>A (p.Asp1237Asn)
NM_052989.3(IFT122):c.416+5G>A
NM_052989.3(IFT122):c.428A>G (p.Asp143Gly)
NM_052989.3(IFT122):c.456C>G (p.Phe152Leu)
NM_052989.3(IFT122):c.458A>G (p.Asn153Ser)
NM_052989.3(IFT122):c.476G>A (p.Arg159Gln)
NM_052989.3(IFT122):c.489C>T (p.Gly163=)
NM_052989.3(IFT122):c.497A>G (p.Lys166Arg)
NM_052989.3(IFT122):c.503A>G (p.Lys168Arg)
NM_052989.3(IFT122):c.515_516insA (p.Ser175fs)
NM_052989.3(IFT122):c.52A>G (p.Ile18Val)
NM_052989.3(IFT122):c.555C>T (p.Asn185=)
NM_052989.3(IFT122):c.564-2A>G
NM_052989.3(IFT122):c.564-3C>T
NM_052989.3(IFT122):c.564-7T>A
NM_052989.3(IFT122):c.567A>G (p.Arg189=)
NM_052989.3(IFT122):c.579C>G (p.Phe193Leu)
NM_052989.3(IFT122):c.592_595del (p.Glu198fs)
NM_052989.3(IFT122):c.682A>G (p.Ser228Gly)
NM_052989.3(IFT122):c.688G>A (p.Ala230Thr)
NM_052989.3(IFT122):c.722G>T (p.Ser241Ile)
NM_052989.3(IFT122):c.740+6T>A
NM_052989.3(IFT122):c.741del (p.Glu248fs)
NM_052989.3(IFT122):c.784A>G (p.Lys262Glu)
NM_052989.3(IFT122):c.788T>C (p.Val263Ala)
NM_052989.3(IFT122):c.791C>T (p.Ser264Phe)
NM_052989.3(IFT122):c.797A>G (p.Tyr266Cys)
NM_052989.3(IFT122):c.816+17A>G
NM_052989.3(IFT122):c.830G>A (p.Arg277Gln)
NM_052989.3(IFT122):c.888G>T (p.Leu296Phe)
NM_052989.3(IFT122):c.916_917del (p.Leu306fs)
NM_052989.3(IFT122):c.928G>A (p.Asp310Asn)
NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1145+2T>G
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.1245del (p.Ser416fs)
NM_147127.5(EVC2):c.1255dup (p.His419fs)
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
NM_147127.5(EVC2):c.1522G>T (p.Glu508Ter)
NM_147127.5(EVC2):c.1595del (p.Phe532fs)
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.228+2T>G
NM_147127.5(EVC2):c.2320C>T (p.Gln774Ter)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2409_2419del (p.Gln804fs)
NM_147127.5(EVC2):c.2501+2T>G
NM_147127.5(EVC2):c.2656G>A (p.Glu886Lys)
NM_147127.5(EVC2):c.2707-2A>G
NM_147127.5(EVC2):c.2710C>T (p.Gln904Ter)
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp) rs748869122
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
NM_147127.5(EVC2):c.2945dup (p.Ser983fs)
NM_147127.5(EVC2):c.2958del (p.Ala987fs)
NM_147127.5(EVC2):c.2974C>T (p.Gln992Ter)
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3286C>T (p.Gln1096Ter)
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.35G>A (p.Trp12Ter)
NM_147127.5(EVC2):c.386del (p.Ala129fs)
NM_147127.5(EVC2):c.3G>C (p.Met1Ile)
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.469G>T (p.Glu157Ter)
NM_147127.5(EVC2):c.558G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.870+2T>C
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.-31_15dup (p.Ala6fs)
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1084del (p.Glu362fs)
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1316-7A>G
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
NM_153717.3(EVC):c.1662_1663del (p.Cys554_Asp555delinsTer)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1858_1878del (p.Leu620_Leu626del)
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1981C>T (p.Gln661Ter)
NM_153717.3(EVC):c.2143_2144del (p.Gln715fs)
NM_153717.3(EVC):c.220C>T (p.Gln74Ter)
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter) rs561852174
NM_153717.3(EVC):c.2695G>T (p.Glu899Ter)
NM_153717.3(EVC):c.2889dup (p.Leu964fs)
NM_153717.3(EVC):c.384+1G>T
NM_153717.3(EVC):c.585_586insT (p.Asn196Ter)
NM_153717.3(EVC):c.618-1G>A
NM_153717.3(EVC):c.802-12_802-11del rs372546602
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.90_91insT (p.Ala31fs)
NM_153717.3(EVC):c.910dup (p.Arg304fs) rs1428798262

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