ClinVar Miner

List of variants reported as uncertain significance for Jeune syndrome by Invitae

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4700
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812 0.00118
NM_018051.5(DYNC2I1):c.176A>G (p.Asp59Gly) rs187908946 0.00098
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_001375405.1(CEP120):c.2647C>T (p.Arg883Cys) rs140306974 0.00066
NM_001375405.1(CEP120):c.1180C>T (p.Pro394Ser) rs200450605 0.00059
NM_001199397.3(NEK1):c.214+6A>G rs375956427 0.00056
NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs) rs777199366 0.00056
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_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816 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_052844.4(DYNC2I2):c.1499C>T (p.Ala500Val) rs142210358 0.00051
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) rs376795880 0.00049
NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val) rs61745095 0.00048
NM_001375405.1(CEP120):c.1119G>C (p.Lys373Asn) rs201571160 0.00047
NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln) rs138511988 0.00046
NM_147127.5(EVC2):c.1505T>G (p.Leu502Arg) rs145909403 0.00046
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804 0.00045
NM_001377.3(DYNC2H1):c.9158G>A (p.Arg3053Gln) rs183985095 0.00043
NM_014714.4(IFT140):c.2067G>A (p.Ala689=) rs143537808 0.00043
NM_018051.5(DYNC2I1):c.451C>T (p.Arg151Trp) rs75914977 0.00042
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys) rs551740936 0.00041
NM_018051.5(DYNC2I1):c.2398G>A (p.Ala800Thr) rs115070314 0.00041
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys) rs200127338 0.00039
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681 0.00039
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp) rs184506506 0.00036
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys) rs369531662 0.00035
NM_001329943.3(KIAA0586):c.1407G>T (p.Gln469His) rs200446131 0.00032
NM_052844.4(DYNC2I2):c.1117C>T (p.Arg373Trp) rs146903531 0.00031
NM_015662.3(IFT172):c.1523G>A (p.Arg508His) rs144868723 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_001329943.3(KIAA0586):c.2503C>G (p.Leu835Val) rs113040775 0.00029
NM_001329943.3(KIAA0586):c.3407T>C (p.Ile1136Thr) rs200148591 0.00029
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217 0.00029
NM_001377.3(DYNC2H1):c.9123A>C (p.Arg3041Ser) rs369837389 0.00029
NM_015662.3(IFT172):c.1426G>A (p.Gly476Ser) rs147303046 0.00029
NM_001375405.1(CEP120):c.1684A>G (p.Thr562Ala) rs147277049 0.00028
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met) rs143430766 0.00027
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) rs200670161 0.00027
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala) rs896789657 0.00024
NM_001329943.3(KIAA0586):c.3374C>T (p.Ala1125Val) rs201898983 0.00024
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_153717.3(EVC):c.2519C>T (p.Thr840Met) rs143464806 0.00024
NM_001375405.1(CEP120):c.2926A>G (p.Arg976Gly) rs145436175 0.00023
NM_018051.5(DYNC2I1):c.407A>C (p.Gln136Pro) rs781030406 0.00023
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys) rs141190788 0.00023
NM_052844.4(DYNC2I2):c.1363T>C (p.Ser455Pro) rs146562225 0.00022
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala) rs149527560 0.00022
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met) rs375566943 0.00022
NM_018051.5(DYNC2I1):c.1826C>T (p.Ala609Val) rs192753686 0.00021
NM_147127.5(EVC2):c.2668G>A (p.Val890Met) rs371698182 0.00021
NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile) rs753810786 0.00020
NM_001377.3(DYNC2H1):c.913G>A (p.Val305Met) rs201188696 0.00020
NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu) rs372585344 0.00019
NM_001329943.3(KIAA0586):c.1237C>T (p.Pro413Ser) rs377325998 0.00019
NM_001329943.3(KIAA0586):c.411-1363G>C rs570489575 0.00019
NM_001377.3(DYNC2H1):c.1384C>T (p.Arg462Trp) rs768459821 0.00019
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala) rs752069515 0.00019
NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys) rs147668131 0.00019
NM_018051.5(DYNC2I1):c.1726G>A (p.Asp576Asn) rs201190743 0.00019
NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter) rs202111347 0.00019
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) rs140196566 0.00019
NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly) rs139352103 0.00019
NM_020800.3(IFT80):c.1826G>A (p.Arg609His) rs540494495 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223 0.00019
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln) rs376338487 0.00018
NM_018051.5(DYNC2I1):c.1676C>T (p.Pro559Leu) rs187658316 0.00018
NM_020779.4(WDR35):c.1330C>T (p.Arg444Cys) rs148510977 0.00018
NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly) rs529024280 0.00017
NM_001199397.3(NEK1):c.2974G>A (p.Glu992Lys) rs369134166 0.00017
NM_001375405.1(CEP120):c.196C>T (p.His66Tyr) rs751682861 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_147127.5(EVC2):c.1003C>T (p.Arg335Trp) rs148884226 0.00017
NM_001329943.3(KIAA0586):c.411-1369A>G rs1044844835 0.00016
NM_018051.5(DYNC2I1):c.1315C>G (p.Gln439Glu) rs372622058 0.00016
NM_020779.4(WDR35):c.2254G>A (p.Glu752Lys) rs756006241 0.00016
NM_020800.3(IFT80):c.634T>C (p.Tyr212His) rs756009771 0.00016
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) rs142887208 0.00016
NM_052844.4(DYNC2I2):c.991G>A (p.Gly331Arg) rs765921383 0.00016
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603 0.00016
NM_001329943.3(KIAA0586):c.3377C>T (p.Ala1126Val) rs750969059 0.00015
NM_001375405.1(CEP120):c.1484T>C (p.Val495Ala) rs150887058 0.00015
NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln) rs147394910 0.00015
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys) rs146290725 0.00015
NM_018051.5(DYNC2I1):c.1573A>G (p.Lys525Glu) rs777679941 0.00015
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val) rs370951527 0.00015
NM_020800.3(IFT80):c.758G>A (p.Arg253His) rs144738877 0.00015
NM_052844.4(DYNC2I2):c.14C>G (p.Ala5Gly) rs544655044 0.00015
NM_001199397.3(NEK1):c.292G>A (p.Val98Ile) rs115005766 0.00014
NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu) rs187783779 0.00014
NM_001329943.3(KIAA0586):c.1490A>G (p.Asn497Ser) rs753633031 0.00014
NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg) rs200627657 0.00014
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) rs201929144 0.00014
NM_001375405.1(CEP120):c.358A>G (p.Thr120Ala) rs202103949 0.00014
NM_001377.3(DYNC2H1):c.11788C>T (p.Arg3930Cys) rs199705540 0.00014
NM_001377.3(DYNC2H1):c.12040G>A (p.Val4014Ile) rs532644983 0.00014
NM_001377.3(DYNC2H1):c.3128G>A (p.Arg1043His) rs372627366 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_018051.5(DYNC2I1):c.2540G>A (p.Gly847Asp) rs372734939 0.00014
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) rs201365447 0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00014
NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser) rs776790149 0.00013
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_001377.3(DYNC2H1):c.12776G>T (p.Gly4259Val) rs368203507 0.00013
NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys) rs1259402740 0.00013
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln) rs138596995 0.00013
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly) rs369515554 0.00013
NM_024753.5(TTC21B):c.3182A>G (p.Tyr1061Cys) rs200280772 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_052844.4(DYNC2I2):c.289G>A (p.Val97Met) rs748058396 0.00013
NM_052844.4(DYNC2I2):c.961C>T (p.Arg321Trp) rs369567140 0.00013
NM_052844.4(DYNC2I2):c.988C>T (p.Arg330Cys) rs200271161 0.00013
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00013
NM_153717.3(EVC):c.2449+4C>T rs753679138 0.00013
NM_001199397.3(NEK1):c.2224C>T (p.Arg742Cys) rs201200462 0.00012
NM_001329943.3(KIAA0586):c.1987C>T (p.Pro663Ser) rs370560098 0.00012
NM_001377.3(DYNC2H1):c.12268G>A (p.Val4090Ile) rs376545196 0.00012
NM_001377.3(DYNC2H1):c.6697T>C (p.Ser2233Pro) rs375988913 0.00012
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala) rs368343162 0.00012
NM_015662.3(IFT172):c.5069-3C>T rs370108416 0.00012
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_001199397.3(NEK1):c.1278G>A (p.Leu426=) rs752431764 0.00011
NM_001199397.3(NEK1):c.2500A>T (p.Ser834Cys) rs187263822 0.00011
NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser) rs376681702 0.00011
NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val) rs200735064 0.00011
NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile) rs201393625 0.00011
NM_001375405.1(CEP120):c.1760A>T (p.Gln587Leu) rs147430819 0.00011
NM_001375405.1(CEP120):c.2235G>C (p.Gln745His) rs201600892 0.00011
NM_001375405.1(CEP120):c.316A>C (p.Lys106Gln) rs568081479 0.00011
NM_001377.3(DYNC2H1):c.10025G>A (p.Arg3342Gln) rs755136217 0.00011
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val) rs201949058 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_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_018051.5(DYNC2I1):c.1654A>G (p.Arg552Gly) rs771427947 0.00011
NM_018051.5(DYNC2I1):c.2825C>T (p.Ala942Val) rs371334329 0.00011
NM_018051.5(DYNC2I1):c.3112C>T (p.Arg1038Trp) rs758415572 0.00011
NM_018051.5(DYNC2I1):c.389G>A (p.Arg130Gln) rs374765133 0.00011
NM_018051.5(DYNC2I1):c.990+3A>T rs374608321 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_020800.3(IFT80):c.36G>A (p.Lys12=) rs764052178 0.00011
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) rs193273000 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_147127.5(EVC2):c.1822C>T (p.Arg608Cys) rs371876802 0.00011
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) rs145786485 0.00011
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu) rs369153874 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_153717.3(EVC):c.299A>G (p.Asp100Gly) rs1282571678 0.00011
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser) rs200094677 0.00010
NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala) rs753972803 0.00010
NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn) rs372215354 0.00010
NM_001375405.1(CEP120):c.827G>A (p.Gly276Glu) rs201955087 0.00010
NM_001377.3(DYNC2H1):c.12551G>A (p.Arg4184His) rs200913028 0.00010
NM_001377.3(DYNC2H1):c.2342A>G (p.Tyr781Cys) rs370392119 0.00010
NM_001377.3(DYNC2H1):c.3539C>T (p.Thr1180Ile) rs368273539 0.00010
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr) rs368447956 0.00010
NM_001377.3(DYNC2H1):c.8782A>C (p.Lys2928Gln) rs190819700 0.00010
NM_014714.4(IFT140):c.128T>C (p.Val43Ala) rs372148301 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.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_015662.3(IFT172):c.679C>T (p.His227Tyr) rs142857050 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_052844.4(DYNC2I2):c.392C>T (p.Ala131Val) rs766392626 0.00010
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg) rs201555920 0.00010
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr) rs145645536 0.00010
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621 0.00010
NM_001329943.3(KIAA0586):c.3841C>T (p.His1281Tyr) rs371424977 0.00009
NM_001329943.3(KIAA0586):c.411-1359T>G rs1051790402 0.00009
NM_001375405.1(CEP120):c.1333A>T (p.Ile445Phe) rs753763495 0.00009
NM_001377.3(DYNC2H1):c.12025A>C (p.Met4009Leu) rs763169398 0.00009
NM_001377.3(DYNC2H1):c.2936G>A (p.Arg979Gln) rs201810959 0.00009
NM_001377.3(DYNC2H1):c.5780C>T (p.Pro1927Leu) rs367585820 0.00009
NM_001377.3(DYNC2H1):c.7736G>A (p.Arg2579Gln) rs201854166 0.00009
NM_001377.3(DYNC2H1):c.9655G>A (p.Glu3219Lys) rs376974461 0.00009
NM_014714.4(IFT140):c.633C>T (p.Asp211=) rs201319525 0.00009
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp) rs141043554 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.3673C>T (p.Arg1225Trp) rs148305851 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_018051.5(DYNC2I1):c.2905G>A (p.Val969Met) rs377727599 0.00009
NM_020800.3(IFT80):c.1052C>T (p.Thr351Met) rs199778285 0.00009
NM_020800.3(IFT80):c.707C>T (p.Ala236Val) rs774857269 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.2606A>G (p.Gln869Arg) rs137926033 0.00009
NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys) rs377393152 0.00009
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) rs563367049 0.00009
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00009
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg) rs142738089 0.00009
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816 0.00009
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
NM_001199397.3(NEK1):c.1080+4T>C rs757527637 0.00008
NM_001329943.3(KIAA0586):c.2831A>T (p.Glu944Val) rs181400417 0.00008
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile) rs372259984 0.00008
NM_001329943.3(KIAA0586):c.347A>G (p.Asp116Gly) rs376113173 0.00008
NM_001329943.3(KIAA0586):c.4162G>A (p.Val1388Ile) rs369067010 0.00008
NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val) rs200405048 0.00008
NM_001375405.1(CEP120):c.612+5G>A rs762000520 0.00008
NM_001377.3(DYNC2H1):c.12389A>G (p.Lys4130Arg) rs368043505 0.00008
NM_001377.3(DYNC2H1):c.7115G>A (p.Ser2372Asn) rs539366280 0.00008
NM_001377.3(DYNC2H1):c.722A>T (p.Asp241Val) rs183159969 0.00008
NM_001377.3(DYNC2H1):c.7597C>T (p.Arg2533Cys) rs754889986 0.00008
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe) rs751137317 0.00008
NM_014714.4(IFT140):c.1649G>A (p.Arg550Gln) rs762399912 0.00008
NM_014714.4(IFT140):c.2067+4C>T rs111785408 0.00008
NM_014714.4(IFT140):c.2543G>A (p.Arg848His) rs746743309 0.00008
NM_014714.4(IFT140):c.3947A>T (p.Lys1316Met) rs1288732698 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_020779.4(WDR35):c.66G>T (p.Trp22Cys) rs201860485 0.00008
NM_020800.3(IFT80):c.192G>T (p.Trp64Cys) rs151263345 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.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_052844.4(DYNC2I2):c.856G>A (p.Val286Met) rs139569061 0.00008
NM_147127.5(EVC2):c.1456C>T (p.Arg486Cys) rs780919705 0.00008
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg) rs200743695 0.00008
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln) rs752020764 0.00008
NM_001199397.3(NEK1):c.1140+4G>A rs369300755 0.00007
NM_001199397.3(NEK1):c.1942A>G (p.Lys648Glu) rs371562840 0.00007
NM_001329943.3(KIAA0586):c.1846G>T (p.Gly616Cys) rs766453312 0.00007
NM_001329943.3(KIAA0586):c.2943T>G (p.Ile981Met) rs370778483 0.00007
NM_001377.3(DYNC2H1):c.11287G>A (p.Ala3763Thr) rs780426783 0.00007
NM_001377.3(DYNC2H1):c.11745G>T (p.Trp3915Cys) rs549891589 0.00007
NM_001377.3(DYNC2H1):c.7675G>A (p.Asp2559Asn) rs368867624 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.2773G>A (p.Glu925Lys) rs368922367 0.00007
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met) rs757585192 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.623A>G (p.Asn208Ser) rs771817287 0.00007
NM_018051.5(DYNC2I1):c.2245A>T (p.Thr749Ser) rs755638947 0.00007
NM_020779.4(WDR35):c.2230G>A (p.Glu744Lys) rs1420842472 0.00007
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu) rs774768083 0.00007
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) rs369201153 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_052844.4(DYNC2I2):c.981+4C>T rs375985561 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_153717.3(EVC):c.2654A>G (p.Asp885Gly) rs540660500 0.00007
NM_001199397.3(NEK1):c.2896A>G (p.Arg966Gly) rs369918838 0.00006
NM_001199397.3(NEK1):c.3437G>A (p.Arg1146Lys) rs751475605 0.00006
NM_001199397.3(NEK1):c.695G>A (p.Arg232His) rs772747361 0.00006
NM_001329943.3(KIAA0586):c.1253+3A>G rs762698768 0.00006
NM_001329943.3(KIAA0586):c.1657G>C (p.Asp553His) rs1214561950 0.00006
NM_001329943.3(KIAA0586):c.1917T>G (p.Asp639Glu) rs376649351 0.00006
NM_001329943.3(KIAA0586):c.3031G>A (p.Glu1011Lys) rs755889131 0.00006
NM_001329943.3(KIAA0586):c.3698C>G (p.Thr1233Ser) rs201702546 0.00006
NM_001329943.3(KIAA0586):c.3988G>A (p.Glu1330Lys) rs373649439 0.00006
NM_001329943.3(KIAA0586):c.568G>A (p.Ala190Thr) rs755205238 0.00006
NM_001329943.3(KIAA0586):c.667C>T (p.Arg223Cys) rs573870218 0.00006
NM_001329943.3(KIAA0586):c.807+3A>T rs771308299 0.00006
NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro) rs553130671 0.00006
NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys) rs191232589 0.00006
NM_001375405.1(CEP120):c.1721G>A (p.Arg574His) rs367748337 0.00006
NM_001375405.1(CEP120):c.2122C>G (p.Leu708Val) rs144490830 0.00006
NM_001375405.1(CEP120):c.409A>G (p.Lys137Glu) rs200983311 0.00006
NM_001375405.1(CEP120):c.499A>G (p.Ile167Val) rs200059033 0.00006
NM_001377.3(DYNC2H1):c.12854A>G (p.Asp4285Gly) rs886047583 0.00006
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_001377.3(DYNC2H1):c.5821G>C (p.Ala1941Pro) rs368058473 0.00006
NM_001377.3(DYNC2H1):c.6633+4A>T rs140033218 0.00006
NM_001377.3(DYNC2H1):c.9349G>A (p.Glu3117Lys) rs200870508 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.1327G>A (p.Asp443Asn) rs538562131 0.00006
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val) rs748463111 0.00006
NM_014714.4(IFT140):c.2530G>C (p.Glu844Gln) rs768971224 0.00006
NM_014714.4(IFT140):c.2944C>T (p.Arg982Trp) rs142342085 0.00006
NM_014714.4(IFT140):c.2965C>T (p.Arg989Cys) rs147756729 0.00006
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser) rs756324852 0.00006
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly) rs771632573 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.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_018051.5(DYNC2I1):c.2372-3C>T rs373063403 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.2930C>T (p.Ala977Val) rs754516323 0.00006
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser) rs200258619 0.00006
NM_020779.4(WDR35):c.817T>G (p.Phe273Val) rs370377789 0.00006
NM_020800.3(IFT80):c.1205G>A (p.Arg402His) rs147955112 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.179T>A (p.Phe60Tyr) rs371571631 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.2305A>T (p.Thr769Ser) rs373564710 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp) rs371376632 0.00006
NM_024753.5(TTC21B):c.455A>C (p.Asp152Ala) rs145726127 0.00006
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg) rs769057187 0.00006
NM_024753.5(TTC21B):c.667C>G (p.Leu223Val) rs370860586 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.2292A>T (p.Gln764His) rs1340705825 0.00006
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys) rs779337768 0.00006
NM_025132.4(WDR19):c.3160G>A (p.Ala1054Thr) rs756862143 0.00006
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_025132.4(WDR19):c.3383T>C (p.Val1128Ala) rs372799054 0.00006
NM_025132.4(WDR19):c.4004A>G (p.Tyr1335Cys) rs746465783 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_052844.4(DYNC2I2):c.1565G>A (p.Arg522Gln) rs373418441 0.00006
NM_052844.4(DYNC2I2):c.338G>A (p.Arg113Gln) rs141826084 0.00006
NM_052844.4(DYNC2I2):c.554A>G (p.His185Arg) rs544202763 0.00006
NM_052844.4(DYNC2I2):c.583G>A (p.Val195Met) rs370632485 0.00006
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys) rs377461598 0.00006
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys) rs144270330 0.00006
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723 0.00006
NM_147127.5(EVC2):c.2267A>C (p.Asn756Thr) rs146837459 0.00006
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677 0.00006
NM_153717.3(EVC):c.1807G>A (p.Val603Met) rs886042994 0.00006
NM_001199397.3(NEK1):c.2045C>T (p.Pro682Leu) rs779634939 0.00005
NM_001199397.3(NEK1):c.2225G>A (p.Arg742His) rs778982890 0.00005
NM_001199397.3(NEK1):c.465-3T>C rs760376432 0.00005
NM_001329943.3(KIAA0586):c.928C>T (p.Pro310Ser) rs1054781365 0.00005
NM_001329943.3(KIAA0586):c.968T>C (p.Leu323Ser) rs563531719 0.00005
NM_001375405.1(CEP120):c.1846T>C (p.Ser616Pro) rs765938298 0.00005
NM_001375405.1(CEP120):c.634C>G (p.Leu212Val) rs779407868 0.00005
NM_001377.3(DYNC2H1):c.2387G>A (p.Arg796Gln) rs747028260 0.00005
NM_001377.3(DYNC2H1):c.2422G>A (p.Gly808Ser) rs372055203 0.00005
NM_001377.3(DYNC2H1):c.2974G>A (p.Asp992Asn) rs200222210 0.00005
NM_001377.3(DYNC2H1):c.7492A>G (p.Ile2498Val) rs200034783 0.00005
NM_001377.3(DYNC2H1):c.8488G>A (p.Gly2830Arg) rs769394385 0.00005
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln) rs780189760 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.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.4436A>G (p.Asn1479Ser) rs757946737 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_018051.5(DYNC2I1):c.2029G>A (p.Val677Ile) rs767670522 0.00005
NM_018051.5(DYNC2I1):c.2317A>G (p.Thr773Ala) rs770249657 0.00005
NM_018051.5(DYNC2I1):c.731A>G (p.Lys244Arg) rs755850270 0.00005
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val) rs763618858 0.00005
NM_020779.4(WDR35):c.2580G>A (p.Met860Ile) rs201443916 0.00005
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu) rs753617262 0.00005
NM_020800.3(IFT80):c.1381-6T>A rs781482459 0.00005
NM_020800.3(IFT80):c.2014A>G (p.Ile672Val) rs767128122 0.00005
NM_020800.3(IFT80):c.511A>G (p.Ile171Val) rs140163837 0.00005
NM_024753.5(TTC21B):c.1427G>A (p.Arg476His) rs767963660 0.00005
NM_024753.5(TTC21B):c.2224A>G (p.Ile742Val) rs147222434 0.00005
NM_024753.5(TTC21B):c.250A>G (p.Ser84Gly) rs763267081 0.00005
NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys) rs757730050 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.3140C>T (p.Pro1047Leu) rs1244203665 0.00005
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) rs757564170 0.00005
NM_025132.4(WDR19):c.3521G>A (p.Arg1174His) rs372719724 0.00005
NM_025132.4(WDR19):c.592G>A (p.Ala198Thr) rs575149055 0.00005
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp) rs760871098 0.00005
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His) rs139577475 0.00005
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln) rs767013073 0.00005
NM_001006657.2(WDR35):c.1204G>A (p.Glu402Lys) rs553534590 0.00004
NM_001199397.3(NEK1):c.1080G>C (p.Glu360Asp) rs765591688 0.00004
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile) rs776098853 0.00004
NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu) rs377607698 0.00004
NM_001329943.3(KIAA0586):c.1031G>A (p.Arg344His) rs773375756 0.00004
NM_001329943.3(KIAA0586):c.1433A>G (p.Asn478Ser) rs773524165 0.00004
NM_001329943.3(KIAA0586):c.1847G>C (p.Gly616Ala) rs774592908 0.00004
NM_001329943.3(KIAA0586):c.2015C>G (p.Pro672Arg) rs749825699 0.00004
NM_001329943.3(KIAA0586):c.2026C>T (p.Pro676Ser) rs967603971 0.00004
NM_001329943.3(KIAA0586):c.2531C>A (p.Pro844His) rs200490147 0.00004
NM_001329943.3(KIAA0586):c.3257C>T (p.Ser1086Leu) rs772256006 0.00004
NM_001329943.3(KIAA0586):c.3261T>A (p.Asp1087Glu) rs1049863128 0.00004
NM_001329943.3(KIAA0586):c.3556C>A (p.Pro1186Thr) rs368136238 0.00004
NM_001329943.3(KIAA0586):c.3682A>G (p.Ser1228Gly) rs761946256 0.00004
NM_001329943.3(KIAA0586):c.4436C>G (p.Pro1479Arg) rs374096160 0.00004
NM_001329943.3(KIAA0586):c.4495+3791G>A rs924361010 0.00004
NM_001329943.3(KIAA0586):c.620T>C (p.Val207Ala) rs199837404 0.00004
NM_001375405.1(CEP120):c.2119A>G (p.Ile707Val) rs200462051 0.00004
NM_001375405.1(CEP120):c.2237G>A (p.Arg746Gln) rs375645626 0.00004
NM_001377.3(DYNC2H1):c.10277A>C (p.Glu3426Ala) rs375512191 0.00004
NM_001377.3(DYNC2H1):c.12253C>T (p.Arg4085Cys) rs201076231 0.00004
NM_001377.3(DYNC2H1):c.2027A>C (p.Gln676Pro) rs752041287 0.00004
NM_001377.3(DYNC2H1):c.2472T>G (p.Ile824Met) rs779852550 0.00004
NM_001377.3(DYNC2H1):c.2908A>T (p.Asn970Tyr) rs914483901 0.00004
NM_001377.3(DYNC2H1):c.3757C>T (p.Arg1253Trp) rs375636006 0.00004
NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His) rs759690887 0.00004
NM_001377.3(DYNC2H1):c.4900A>G (p.Met1634Val) rs753296481 0.00004
NM_001377.3(DYNC2H1):c.5681A>G (p.Glu1894Gly) rs753911293 0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647 0.00004
NM_001377.3(DYNC2H1):c.7456G>A (p.Val2486Ile) rs568180989 0.00004
NM_001377.3(DYNC2H1):c.7540+3G>A rs750251551 0.00004
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830 0.00004
NM_001377.3(DYNC2H1):c.9217T>C (p.Ser3073Pro) rs199970220 0.00004
NM_001377.3(DYNC2H1):c.9585G>C (p.Glu3195Asp) rs758118161 0.00004
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr) rs769337607 0.00004
NM_014714.4(IFT140):c.1271C>T (p.Pro424Leu) rs780657545 0.00004
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp) rs757678246 0.00004
NM_014714.4(IFT140):c.1789T>G (p.Ser597Ala) rs771450990 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.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.3193G>A (p.Glu1065Lys) rs373564205 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.4036C>T (p.Arg1346Cys) rs556735183 0.00004
NM_014714.4(IFT140):c.4037G>A (p.Arg1346His) rs144050063 0.00004
NM_014714.4(IFT140):c.4048A>G (p.Thr1350Ala) rs756448762 0.00004
NM_014714.4(IFT140):c.4163G>A (p.Arg1388Gln) rs369058620 0.00004
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs) rs753109181 0.00004
NM_014714.4(IFT140):c.526G>A (p.Gly176Ser) rs201849591 0.00004
NM_014714.4(IFT140):c.593G>C (p.Gly198Ala) rs983329531 0.00004
NM_014714.4(IFT140):c.628A>G (p.Met210Val) rs749432087 0.00004
NM_014714.4(IFT140):c.69G>T (p.Trp23Cys) rs139141440 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_015662.3(IFT172):c.1100G>A (p.Arg367His) rs755263642 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.2014C>T (p.Arg672Trp) rs201921339 0.00004
NM_015662.3(IFT172):c.2222G>A (p.Arg741His) rs1011923461 0.00004
NM_015662.3(IFT172):c.2231A>G (p.Tyr744Cys) rs201991482 0.00004
NM_015662.3(IFT172):c.2443-3C>T rs774328767 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.2943G>A (p.Met981Ile) rs779195226 0.00004
NM_015662.3(IFT172):c.3566G>A (p.Arg1189His) rs367806691 0.00004
NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys) rs369191459 0.00004
NM_015662.3(IFT172):c.4311+5T>C rs756624999 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.926G>C (p.Gly309Ala) rs749612277 0.00004
NM_015662.3(IFT172):c.972C>G (p.Asn324Lys) rs370874046 0.00004
NM_018051.5(DYNC2I1):c.1293C>T (p.Gly431=) rs369015842 0.00004
NM_018051.5(DYNC2I1):c.1609G>A (p.Glu537Lys) rs537240153 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_018051.5(DYNC2I1):c.2464G>A (p.Ala822Thr) rs566913816 0.00004
NM_018051.5(DYNC2I1):c.2485+5C>A rs771294563 0.00004
NM_018051.5(DYNC2I1):c.2512C>G (p.Leu838Val) rs770020503 0.00004
NM_018051.5(DYNC2I1):c.2767C>T (p.Pro923Ser) rs770977639 0.00004
NM_018051.5(DYNC2I1):c.986G>A (p.Arg329Gln) rs777602096 0.00004
NM_020779.4(WDR35):c.1529G>A (p.Arg510His) rs763031783 0.00004
NM_020779.4(WDR35):c.1637G>A (p.Arg546His) rs529313875 0.00004
NM_020779.4(WDR35):c.2278A>G (p.Ile760Val) rs370956261 0.00004
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly) rs1281384371 0.00004
NM_020779.4(WDR35):c.3307A>T (p.Thr1103Ser) rs774898515 0.00004
NM_020779.4(WDR35):c.551A>G (p.Asp184Gly) rs370873468 0.00004
NM_020779.4(WDR35):c.742G>A (p.Val248Ile) rs372968757 0.00004
NM_020800.3(IFT80):c.209G>A (p.Gly70Asp) rs752892324 0.00004
NM_020800.3(IFT80):c.394A>C (p.Ile132Leu) rs376849101 0.00004
NM_020800.3(IFT80):c.659G>A (p.Arg220His) rs754818191 0.00004
NM_020800.3(IFT80):c.757C>T (p.Arg253Cys) rs138656118 0.00004
NM_020800.3(IFT80):c.835A>G (p.Ile279Val) rs772283130 0.00004
NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His) rs377009251 0.00004
NM_024753.5(TTC21B):c.1768A>G (p.Met590Val) rs777733112 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.1964G>A (p.Arg655Gln) rs748141161 0.00004
NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys) rs370846838 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.367C>T (p.Arg123Cys) rs775370323 0.00004
NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln) rs201495700 0.00004
NM_024753.5(TTC21B):c.569T>A (p.Met190Lys) rs200374808 0.00004
NM_024753.5(TTC21B):c.616G>A (p.Val206Met) rs370956667 0.00004
NM_024753.5(TTC21B):c.796-3T>C rs794727932 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.1748C>T (p.Thr583Ile) rs1286484497 0.00004
NM_025132.4(WDR19):c.1942G>A (p.Glu648Lys) rs377367588 0.00004
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr) rs768082694 0.00004
NM_025132.4(WDR19):c.2786G>A (p.Arg929His) rs201685269 0.00004
NM_025132.4(WDR19):c.3184-3C>T rs750130004 0.00004
NM_025132.4(WDR19):c.3247G>A (p.Asp1083Asn) rs376167184 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.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_052844.4(DYNC2I2):c.1246C>T (p.His416Tyr) rs371747861 0.00004
NM_052844.4(DYNC2I2):c.299C>T (p.Pro100Leu) rs202215428 0.00004
NM_052844.4(DYNC2I2):c.637G>A (p.Val213Met) rs369755261 0.00004
NM_052844.4(DYNC2I2):c.746G>A (p.Arg249His) rs774756722 0.00004
NM_052844.4(DYNC2I2):c.899G>T (p.Gly300Val) rs1200480566 0.00004
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839 0.00004
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln) rs573448772 0.00004
NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu) rs145071652 0.00004
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu) rs370838180 0.00004
NM_147127.5(EVC2):c.986A>G (p.Asn329Ser) rs368314615 0.00004
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920 0.00004
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp) rs748220728 0.00004
NM_153717.3(EVC):c.455C>T (p.Pro152Leu) rs371671127 0.00004
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_001006657.2(WDR35):c.1206G>T (p.Glu402Asp) rs762190195 0.00003
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly) rs35763578 0.00003
NM_001199397.3(NEK1):c.1793A>G (p.Asn598Ser) rs61735896 0.00003
NM_001199397.3(NEK1):c.2353C>T (p.Arg785Cys) rs374639577 0.00003
NM_001199397.3(NEK1):c.2687C>T (p.Ser896Phe) rs1048939661 0.00003
NM_001199397.3(NEK1):c.2815A>G (p.Lys939Glu) rs370930011 0.00003
NM_001199397.3(NEK1):c.2886G>A (p.Gln962=) rs770250819 0.00003
NM_001329943.3(KIAA0586):c.1160A>G (p.Asn387Ser) rs1168640996 0.00003
NM_001329943.3(KIAA0586):c.1444T>C (p.Ser482Pro) rs375472516 0.00003
NM_001329943.3(KIAA0586):c.1797A>T (p.Lys599Asn) rs556030955 0.00003
NM_001329943.3(KIAA0586):c.2198T>C (p.Met733Thr) rs752363556 0.00003
NM_001329943.3(KIAA0586):c.2354G>A (p.Arg785Gln) rs372212501 0.00003
NM_001329943.3(KIAA0586):c.2623G>A (p.Asp875Asn) rs770913768 0.00003
NM_001329943.3(KIAA0586):c.2965G>A (p.Ala989Thr) rs767605168 0.00003
NM_001329943.3(KIAA0586):c.3526A>G (p.Ile1176Val) rs777965178 0.00003
NM_001329943.3(KIAA0586):c.3908A>G (p.Lys1303Arg) rs767855931 0.00003
NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala) rs962979142 0.00003
NM_001329943.3(KIAA0586):c.4573G>A (p.Glu1525Lys) rs375085808 0.00003
NM_001329943.3(KIAA0586):c.518T>C (p.Ile173Thr) rs773960033 0.00003
NM_001329943.3(KIAA0586):c.986C>T (p.Thr329Met) rs747277541 0.00003
NM_001375405.1(CEP120):c.1274C>G (p.Ala425Gly) rs1196167686 0.00003
NM_001375405.1(CEP120):c.1493G>A (p.Arg498Gln) rs764318008 0.00003
NM_001375405.1(CEP120):c.2358+3T>G rs373782883 0.00003
NM_001375405.1(CEP120):c.2686G>A (p.Glu896Lys) rs780184609 0.00003
NM_001375405.1(CEP120):c.2690G>A (p.Arg897Gln) rs531728977 0.00003
NM_001375405.1(CEP120):c.304G>A (p.Ala102Thr) rs370142490 0.00003
NM_001377.3(DYNC2H1):c.10433C>A (p.Ser3478Tyr) rs372499560 0.00003
NM_001377.3(DYNC2H1):c.11013A>C (p.Leu3671Phe) rs768893643 0.00003
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.11525G>A (p.Arg3842His) rs759231451 0.00003
NM_001377.3(DYNC2H1):c.11649+4A>T rs372714647 0.00003
NM_001377.3(DYNC2H1):c.11726-7A>G rs746481743 0.00003
NM_001377.3(DYNC2H1):c.11858T>C (p.Ile3953Thr) rs769616176 0.00003
NM_001377.3(DYNC2H1):c.12022C>T (p.Arg4008Cys) rs765336353 0.00003
NM_001377.3(DYNC2H1):c.12890A>G (p.Gln4297Arg) rs558920296 0.00003
NM_001377.3(DYNC2H1):c.2399A>G (p.Tyr800Cys) rs776822327 0.00003
NM_001377.3(DYNC2H1):c.2639A>G (p.His880Arg) rs373531037 0.00003
NM_001377.3(DYNC2H1):c.2828A>G (p.His943Arg) rs747923490 0.00003
NM_001377.3(DYNC2H1):c.2993G>A (p.Arg998Gln) rs372269011 0.00003
NM_001377.3(DYNC2H1):c.3361T>G (p.Ser1121Ala) rs772782945 0.00003
NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val) rs371037205 0.00003
NM_001377.3(DYNC2H1):c.3959G>A (p.Gly1320Glu) rs890283765 0.00003
NM_001377.3(DYNC2H1):c.4962A>T (p.Glu1654Asp) rs751762562 0.00003
NM_001377.3(DYNC2H1):c.5152-3A>C rs372549709 0.00003
NM_001377.3(DYNC2H1):c.6322T>A (p.Ser2108Thr) rs750436227 0.00003
NM_001377.3(DYNC2H1):c.7030C>T (p.Arg2344Cys) rs547419104 0.00003
NM_001377.3(DYNC2H1):c.7385C>T (p.Ser2462Phe) rs770346645 0.00003
NM_001377.3(DYNC2H1):c.7735C>T (p.Arg2579Trp) rs775362763 0.00003
NM_001377.3(DYNC2H1):c.8021C>T (p.Ala2674Val) rs779700118 0.00003
NM_001377.3(DYNC2H1):c.8473A>G (p.Ser2825Gly) rs886047569 0.00003
NM_014714.4(IFT140):c.1145C>T (p.Thr382Met) rs780000949 0.00003
NM_014714.4(IFT140):c.1330A>G (p.Met444Val) rs749322722 0.00003
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met) rs764537319 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.2425C>T (p.Arg809Cys) rs755748472 0.00003
NM_014714.4(IFT140):c.2510G>A (p.Arg837His) rs374429002 0.00003
NM_014714.4(IFT140):c.2584G>A (p.Ala862Thr) rs751629348 0.00003
NM_014714.4(IFT140):c.2743G>A (p.Ala915Thr) rs529397200 0.00003
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp) rs141818893 0.00003
NM_014714.4(IFT140):c.3302C>T (p.Ala1101Val) rs773291603 0.00003
NM_014714.4(IFT140):c.3350T>C (p.Leu1117Pro) rs749518919 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.3841C>G (p.Leu1281Val) rs1205008767 0.00003
NM_014714.4(IFT140):c.4041-5G>A rs754813435 0.00003
NM_014714.4(IFT140):c.4136A>G (p.Tyr1379Cys) rs117433764 0.00003
NM_014714.4(IFT140):c.4162C>T (p.Arg1388Trp) rs760253028 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_014714.4(IFT140):c.601G>A (p.Glu201Lys) rs367721062 0.00003
NM_014714.4(IFT140):c.886G>A (p.Gly296Arg) rs574450870 0.00003
NM_015662.3(IFT172):c.1056C>G (p.His352Gln) rs145847794 0.00003
NM_015662.3(IFT172):c.1354G>A (p.Gly452Arg) rs866980509 0.00003
NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp) rs374979653 0.00003
NM_015662.3(IFT172):c.1585A>G (p.Met529Val) rs745382278 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.2819G>A (p.Arg940Gln) rs761248577 0.00003
NM_015662.3(IFT172):c.2873A>C (p.His958Pro) rs748358110 0.00003
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln) rs201607202 0.00003
NM_015662.3(IFT172):c.3160G>A (p.Glu1054Lys) rs763117647 0.00003
NM_015662.3(IFT172):c.335C>T (p.Thr112Met) rs191146686 0.00003
NM_015662.3(IFT172):c.336G>A (p.Thr112=) rs1158316267 0.00003
NM_015662.3(IFT172):c.3601G>A (p.Glu1201Lys) rs747872724 0.00003
NM_015662.3(IFT172):c.4130C>T (p.Ala1377Val) rs376824384 0.00003
NM_015662.3(IFT172):c.4370G>A (p.Gly1457Asp) rs142312837 0.00003
NM_015662.3(IFT172):c.4598C>T (p.Thr1533Met) rs202181028 0.00003
NM_015662.3(IFT172):c.4914G>A (p.Pro1638=) rs374531022 0.00003
NM_015662.3(IFT172):c.5005G>A (p.Ala1669Thr) rs146575848 0.00003
NM_015662.3(IFT172):c.5045G>A (p.Arg1682Gln) rs773691500 0.00003
NM_015662.3(IFT172):c.602A>G (p.Tyr201Cys) rs768237211 0.00003
NM_015662.3(IFT172):c.631G>A (p.Val211Met) rs757478657 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_018051.5(DYNC2I1):c.1057G>A (p.Val353Met) rs201238212 0.00003
NM_018051.5(DYNC2I1):c.1438C>T (p.Arg480Trp) rs370385731 0.00003
NM_018051.5(DYNC2I1):c.1484G>A (p.Arg495Gln) rs772956452 0.00003
NM_018051.5(DYNC2I1):c.15+4G>A rs1026363779 0.00003
NM_018051.5(DYNC2I1):c.2167G>A (p.Val723Ile) rs111510513 0.00003
NM_018051.5(DYNC2I1):c.445C>T (p.Arg149Cys) rs545206396 0.00003
NM_018051.5(DYNC2I1):c.49G>A (p.Asp17Asn) rs374477653 0.00003
NM_020779.4(WDR35):c.142+5A>G rs762617889 0.00003
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys) rs549077153 0.00003
NM_020779.4(WDR35):c.197C>T (p.Thr66Ile) rs143397737 0.00003
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys) rs781365658 0.00003
NM_020779.4(WDR35):c.2446C>T (p.Arg816Trp) rs374027943 0.00003
NM_020779.4(WDR35):c.2864G>A (p.Arg955His) rs780666056 0.00003
NM_020779.4(WDR35):c.628A>G (p.Ile210Val) rs1413290520 0.00003
NM_020800.3(IFT80):c.1229C>T (p.Pro410Leu) rs148396265 0.00003
NM_020800.3(IFT80):c.1292T>C (p.Ile431Thr) rs777754118 0.00003
NM_020800.3(IFT80):c.1412A>G (p.Lys471Arg) rs766798264 0.00003
NM_020800.3(IFT80):c.1413A>C (p.Lys471Asn) rs891175325 0.00003
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro) rs137853116 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.1358T>A (p.Met453Lys) rs373845234 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.2966T>C (p.Leu989Ser) rs552766355 0.00003
NM_024753.5(TTC21B):c.2971C>T (p.Arg991Cys) rs367876567 0.00003
NM_024753.5(TTC21B):c.308G>A (p.Arg103His) rs774327753 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.3806-3C>T rs764138635 0.00003
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093 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.1114G>A (p.Val372Ile) rs184326673 0.00003
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr) rs752803760 0.00003
NM_025132.4(WDR19):c.1182A>G (p.Ala394=) rs769687203 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.2363C>T (p.Ala788Val) rs867487924 0.00003
NM_025132.4(WDR19):c.2492T>C (p.Val831Ala) rs934792994 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.288G>A (p.Met96Ile) rs374891297 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.3633C>G (p.Phe1211Leu) rs757721845 0.00003
NM_025132.4(WDR19):c.3640G>A (p.Ala1214Thr) rs1206705962 0.00003
NM_025132.4(WDR19):c.3668G>A (p.Arg1223His) rs115335610 0.00003
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met) rs529745222 0.00003
NM_025132.4(WDR19):c.523-3T>C rs747603843 0.00003
NM_052844.4(DYNC2I2):c.1132G>A (p.Val378Met) rs367663253 0.00003
NM_052844.4(DYNC2I2):c.1504G>A (p.Asp502Asn) rs776327242 0.00003
NM_052844.4(DYNC2I2):c.1550C>T (p.Thr517Met) rs770066601 0.00003
NM_052844.4(DYNC2I2):c.1564C>T (p.Arg522Trp) rs368864898 0.00003
NM_052844.4(DYNC2I2):c.769C>T (p.Arg257Cys) rs769827993 0.00003
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val) rs376048508 0.00003
NM_147127.5(EVC2):c.2551A>G (p.Met851Val) rs373004013 0.00003
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn) rs746187559 0.00003
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr) rs747562782 0.00003
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg) rs748417016 0.00003
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala) rs142952894 0.00003
NM_153717.3(EVC):c.1574T>G (p.Phe525Cys) rs771560788 0.00003
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994 0.00003
NM_153717.3(EVC):c.461A>G (p.Glu154Gly) rs1386247667 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_001080463.2(DYNC2H1):c.9824T>C (p.Ile3275Thr) rs377493103 0.00002
NM_001199397.3(NEK1):c.1030A>G (p.Thr344Ala) rs780547342 0.00002
NM_001199397.3(NEK1):c.2306A>G (p.His769Arg) rs375173827 0.00002
NM_001199397.3(NEK1):c.3301C>T (p.Arg1101Cys) rs759413316 0.00002
NM_001199397.3(NEK1):c.3586A>G (p.Asn1196Asp) rs1249604313 0.00002
NM_001199397.3(NEK1):c.3809T>G (p.Ile1270Ser) rs778919560 0.00002
NM_001199397.3(NEK1):c.464+6A>G rs550184264 0.00002
NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu) rs1251319519 0.00002
NM_001244189.2(KIAA0586):c.9+1G>A rs1490434047 0.00002
NM_001329943.3(KIAA0586):c.1478G>C (p.Gly493Ala) rs780301208 0.00002
NM_001329943.3(KIAA0586):c.1529G>A (p.Arg510His) rs749710241 0.00002
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys) rs1040832003 0.00002
NM_001329943.3(KIAA0586):c.2171A>G (p.Gln724Arg) rs758553529 0.00002
NM_001329943.3(KIAA0586):c.2201C>G (p.Pro734Arg) rs372160214 0.00002
NM_001329943.3(KIAA0586):c.2269A>G (p.Asn757Asp) rs770532816 0.00002
NM_001329943.3(KIAA0586):c.2279C>A (p.Thr760Asn) rs745459956 0.00002
NM_001329943.3(KIAA0586):c.2288C>T (p.Pro763Leu) rs762324359 0.00002
NM_001329943.3(KIAA0586):c.2338A>G (p.Ile780Val) rs752597351 0.00002
NM_001329943.3(KIAA0586):c.2634+4A>G rs1373493143 0.00002
NM_001329943.3(KIAA0586):c.269G>A (p.Ser90Asn) rs780403471 0.00002
NM_001329943.3(KIAA0586):c.2743G>A (p.Ala915Thr) rs757075176 0.00002
NM_001329943.3(KIAA0586):c.2765C>T (p.Ala922Val) rs778611816 0.00002
NM_001329943.3(KIAA0586):c.2810A>G (p.Asn937Ser) rs1287641719 0.00002
NM_001329943.3(KIAA0586):c.2984A>G (p.Asp995Gly) rs368583200 0.00002
NM_001329943.3(KIAA0586):c.3259G>A (p.Asp1087Asn) rs780444812 0.00002
NM_001329943.3(KIAA0586):c.3260A>G (p.Asp1087Gly) rs747213685 0.00002
NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala) rs773967297 0.00002
NM_001329943.3(KIAA0586):c.3511C>G (p.Leu1171Val) rs752970542 0.00002
NM_001329943.3(KIAA0586):c.3971A>G (p.Gln1324Arg) rs554032625 0.00002
NM_001329943.3(KIAA0586):c.4093C>T (p.Pro1365Ser) rs776582851 0.00002
NM_001329943.3(KIAA0586):c.411-1420A>G rs1037899594 0.00002
NM_001329943.3(KIAA0586):c.4207A>G (p.Met1403Val) rs890327400 0.00002
NM_001329943.3(KIAA0586):c.4451G>A (p.Arg1484Gln) rs746312329 0.00002
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser) rs757161449 0.00002
NM_001329943.3(KIAA0586):c.836C>T (p.Thr279Ile) rs779264142 0.00002
NM_001375405.1(CEP120):c.2259C>A (p.Asp753Glu) rs771949596 0.00002
NM_001375405.1(CEP120):c.38C>A (p.Ser13Tyr) rs772928146 0.00002
NM_001375405.1(CEP120):c.65A>G (p.Lys22Arg) rs763850647 0.00002
NM_001377.3(DYNC2H1):c.10946G>A (p.Arg3649His) rs753691638 0.00002
NM_001377.3(DYNC2H1):c.10993C>A (p.Leu3665Ile) rs747268336 0.00002
NM_001377.3(DYNC2H1):c.11489A>G (p.Tyr3830Cys) rs757922501 0.00002
NM_001377.3(DYNC2H1):c.11887A>G (p.Ser3963Gly) rs373776864 0.00002
NM_001377.3(DYNC2H1):c.12010C>T (p.Arg4004Cys) rs768839818 0.00002
NM_001377.3(DYNC2H1):c.12703A>T (p.Asn4235Tyr) rs886047580 0.00002
NM_001377.3(DYNC2H1):c.254T>A (p.Val85Glu) rs775389478 0.00002
NM_001377.3(DYNC2H1):c.4561A>G (p.Thr1521Ala) rs756098102 0.00002
NM_001377.3(DYNC2H1):c.5380G>T (p.Ala1794Ser) rs761506672 0.00002
NM_001377.3(DYNC2H1):c.5852A>G (p.Asn1951Ser) rs753418235 0.00002
NM_001377.3(DYNC2H1):c.7838A>G (p.Lys2613Arg) rs778285080 0.00002
NM_001377.3(DYNC2H1):c.7879A>C (p.Ile2627Leu) rs751745945 0.00002
NM_001377.3(DYNC2H1):c.998A>C (p.Glu333Ala) rs763366904 0.00002
NM_014714.4(IFT140):c.1115A>G (p.Gln372Arg) rs1555491988 0.00002
NM_014714.4(IFT140):c.1242C>G (p.His414Gln) rs142143011 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.1381G>A (p.Gly461Arg) rs146049665 0.00002
NM_014714.4(IFT140):c.1999C>G (p.Gln667Glu) rs753128503 0.00002
NM_014714.4(IFT140):c.2072A>T (p.Asp691Val) rs763569081 0.00002
NM_014714.4(IFT140):c.2312C>T (p.Ala771Val) rs764243187 0.00002
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly) rs758544371 0.00002
NM_014714.4(IFT140):c.2464G>A (p.Val822Met) rs1157116921 0.00002
NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr) rs1438111084 0.00002
NM_014714.4(IFT140):c.2632T>A (p.Phe878Ile) rs1396499118 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.2791C>T (p.Arg931Cys) rs778436557 0.00002
NM_014714.4(IFT140):c.3061G>A (p.Glu1021Lys) rs576458824 0.00002
NM_014714.4(IFT140):c.3092A>C (p.His1031Pro) rs973440348 0.00002
NM_014714.4(IFT140):c.3137G>A (p.Cys1046Tyr) rs752148006 0.00002
NM_014714.4(IFT140):c.3347A>G (p.Asp1116Gly) rs768889794 0.00002
NM_014714.4(IFT140):c.3502G>A (p.Glu1168Lys) rs780721001 0.00002
NM_014714.4(IFT140):c.3584T>C (p.Ile1195Thr) rs753550166 0.00002
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu) rs542803163 0.00002
NM_014714.4(IFT140):c.3625A>G (p.Thr1209Ala) rs1464318641 0.00002
NM_014714.4(IFT140):c.3650A>G (p.Asn1217Ser) rs368380437 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.4181C>T (p.Thr1394Met) rs771765849 0.00002
NM_014714.4(IFT140):c.4207C>T (p.Arg1403Trp) rs772400580 0.00002
NM_014714.4(IFT140):c.4232T>G (p.Met1411Arg) rs752233693 0.00002
NM_014714.4(IFT140):c.490G>A (p.Glu164Lys) rs559314300 0.00002
NM_014714.4(IFT140):c.56C>T (p.Ser19Leu) rs766380874 0.00002
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027 0.00002
NM_014714.4(IFT140):c.773C>T (p.Thr258Met) rs140020318 0.00002
NM_014714.4(IFT140):c.902+3G>A rs776981733 0.00002
NM_015662.3(IFT172):c.1005+10A>T rs771534291 0.00002
NM_015662.3(IFT172):c.1009A>G (p.Ile337Val) rs774559020 0.00002
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser) rs962054597 0.00002
NM_015662.3(IFT172):c.1243G>A (p.Gly415Arg) rs746834072 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.1655T>C (p.Ile552Thr) rs369863525 0.00002
NM_015662.3(IFT172):c.1768T>C (p.Tyr590His) rs1667049048 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.2026G>A (p.Gly676Arg) rs761290683 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.2578T>C (p.Trp860Arg) rs748125718 0.00002
NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp) rs745644146 0.00002
NM_015662.3(IFT172):c.3053G>A (p.Arg1018His) rs375879787 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.328A>T (p.Ile110Phe) rs747883999 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.403-16A>G rs367657817 0.00002
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys) rs753783467 0.00002
NM_015662.3(IFT172):c.4108G>A (p.Glu1370Lys) rs779981992 0.00002
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr) rs1461000488 0.00002
NM_015662.3(IFT172):c.4136G>A (p.Arg1379His) rs772212247 0.00002
NM_015662.3(IFT172):c.4364G>A (p.Arg1455Gln) rs747215055 0.00002
NM_015662.3(IFT172):c.4484A>G (p.Asn1495Ser) rs760535770 0.00002
NM_015662.3(IFT172):c.4489G>A (p.Ala1497Thr) rs759653536 0.00002
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr) rs770733075 0.00002
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala) rs769170592 0.00002
NM_015662.3(IFT172):c.4793A>G (p.Asn1598Ser) rs755477787 0.00002
NM_015662.3(IFT172):c.4813G>A (p.Asp1605Asn) rs755717990 0.00002
NM_015662.3(IFT172):c.5024T>C (p.Val1675Ala) rs774361785 0.00002
NM_015662.3(IFT172):c.5029G>T (p.Ala1677Ser) rs766918099 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.650G>A (p.Arg217Gln) rs777862424 0.00002
NM_015662.3(IFT172):c.673G>C (p.Glu225Gln) rs767999703 0.00002
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp) rs772012378 0.00002
NM_018051.5(DYNC2I1):c.2660A>G (p.His887Arg) rs746483898 0.00002
NM_018051.5(DYNC2I1):c.2933A>G (p.Asn978Ser) rs780146826 0.00002
NM_018051.5(DYNC2I1):c.573+6C>T rs913915593 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.1972C>T (p.Arg658Trp) rs754056303 0.00002
NM_020779.4(WDR35):c.2030A>G (p.Gln677Arg) rs771708013 0.00002
NM_020779.4(WDR35):c.2726A>G (p.Tyr909Cys) rs369793891 0.00002
NM_020779.4(WDR35):c.287T>C (p.Ile96Thr) rs1388421523 0.00002
NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn) rs190070503 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.1069G>A (p.Val357Met) rs530805244 0.00002
NM_020800.3(IFT80):c.1079C>T (p.Thr360Met) rs371152741 0.00002
NM_020800.3(IFT80):c.1315A>G (p.Ile439Val) rs750652226 0.00002
NM_020800.3(IFT80):c.1910A>G (p.Tyr637Cys) rs949267903 0.00002
NM_020800.3(IFT80):c.2225T>A (p.Leu742His) rs763284318 0.00002
NM_020800.3(IFT80):c.286G>A (p.Gly96Arg) rs760332663 0.00002
NM_020800.3(IFT80):c.371T>C (p.Val124Ala) rs775678547 0.00002
NM_020800.3(IFT80):c.377A>C (p.Glu126Ala) rs574860967 0.00002
NM_020800.3(IFT80):c.938C>T (p.Thr313Met) rs753478409 0.00002
NM_020800.3(IFT80):c.954G>A (p.Met318Ile) rs957922344 0.00002
NM_024753.5(TTC21B):c.1357A>G (p.Met453Val) rs754773733 0.00002
NM_024753.5(TTC21B):c.151+4C>T rs370743264 0.00002
NM_024753.5(TTC21B):c.1516+6G>A rs374229097 0.00002
NM_024753.5(TTC21B):c.152G>A (p.Gly51Asp) rs768073526 0.00002
NM_024753.5(TTC21B):c.1747A>G (p.Ile583Val) rs745801155 0.00002
NM_024753.5(TTC21B):c.1757T>C (p.Leu586Pro) rs757261493 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.1853C>T (p.Ser618Leu) rs749287796 0.00002
NM_024753.5(TTC21B):c.2170T>A (p.Ser724Thr) rs759317777 0.00002
NM_024753.5(TTC21B):c.2365A>G (p.Asn789Asp) rs774676050 0.00002
NM_024753.5(TTC21B):c.2495G>A (p.Arg832His) rs145412117 0.00002
NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys) rs574803644 0.00002
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys) rs760729865 0.00002
NM_024753.5(TTC21B):c.3102-4C>G rs750756355 0.00002
NM_024753.5(TTC21B):c.3406A>G (p.Lys1136Glu) rs371863532 0.00002
NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val) rs367564721 0.00002
NM_024753.5(TTC21B):c.3493A>G (p.Thr1165Ala) rs762419505 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.557A>G (p.Gln186Arg) rs938051900 0.00002
NM_024753.5(TTC21B):c.711G>T (p.Arg237Ser) rs764523560 0.00002
NM_024753.5(TTC21B):c.764A>G (p.Tyr255Cys) rs377061787 0.00002
NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys) rs1372232699 0.00002
NM_025132.4(WDR19):c.106T>G (p.Tyr36Asp) rs781578023 0.00002
NM_025132.4(WDR19):c.128G>A (p.Arg43His) rs770312522 0.00002
NM_025132.4(WDR19):c.1294A>G (p.Ser432Gly) rs778750936 0.00002
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) rs1482640692 0.00002
NM_025132.4(WDR19):c.1904A>G (p.His635Arg) rs763696990 0.00002
NM_025132.4(WDR19):c.1931C>T (p.Thr644Met) rs770339514 0.00002
NM_025132.4(WDR19):c.1982+6C>T rs745860100 0.00002
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly) rs778896318 0.00002
NM_025132.4(WDR19):c.2347A>G (p.Ile783Val) rs1055716143 0.00002
NM_025132.4(WDR19):c.2668C>T (p.Pro890Ser) rs1318406101 0.00002
NM_025132.4(WDR19):c.2674G>A (p.Val892Ile) rs551049157 0.00002
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys) rs1470166429 0.00002
NM_025132.4(WDR19):c.2945A>G (p.Glu982Gly) rs923164828 0.00002
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys) rs769807270 0.00002
NM_025132.4(WDR19):c.3113G>A (p.Arg1038Gln) rs1322637464 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.3485T>A (p.Ile1162Asn) rs1429836760 0.00002
NM_025132.4(WDR19):c.3500G>T (p.Gly1167Val) rs767154492 0.00002
NM_025132.4(WDR19):c.3553A>C (p.Lys1185Gln) rs998142201 0.00002
NM_025132.4(WDR19):c.3565+4A>C rs771431758 0.00002
NM_025132.4(WDR19):c.3702C>G (p.Ile1234Met) rs1306554397 0.00002
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) rs777646123 0.00002
NM_025132.4(WDR19):c.738G>A (p.Met246Ile) rs756937727 0.00002
NM_052844.4(DYNC2I2):c.1174G>A (p.Gly392Ser) rs140484655 0.00002
NM_052844.4(DYNC2I2):c.1289C>T (p.Ser430Leu) rs746996134 0.00002
NM_052844.4(DYNC2I2):c.313A>G (p.Ile105Val) rs1192627410 0.00002
NM_052844.4(DYNC2I2):c.435+6G>C rs756949101 0.00002
NM_052844.4(DYNC2I2):c.605G>A (p.Arg202Gln) rs777142657 0.00002
NM_052844.4(DYNC2I2):c.677A>G (p.His226Arg) rs139362186 0.00002
NM_052844.4(DYNC2I2):c.745C>T (p.Arg249Cys) rs146276335 0.00002
NM_147127.5(EVC2):c.1092G>A (p.Met364Ile) rs769447796 0.00002
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln) rs770644264 0.00002
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser) rs200622704 0.00002
NM_147127.5(EVC2):c.2180G>A (p.Arg727His) rs140363692 0.00002
NM_147127.5(EVC2):c.2681A>T (p.Gln894Leu) rs556658594 0.00002
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln) rs767317898 0.00002
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp) rs139610006 0.00002
NM_147127.5(EVC2):c.3827G>T (p.Arg1276Ile) rs751725959 0.00002
NM_147127.5(EVC2):c.663G>T (p.Arg221Ser) rs753207027 0.00002
NM_147127.5(EVC2):c.869C>T (p.Thr290Met) rs149414427 0.00002
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys) rs756430334 0.00002
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801 0.00002
NM_153717.3(EVC):c.187C>G (p.Gln63Glu) rs371329240 0.00002
NM_153717.3(EVC):c.188A>G (p.Gln63Arg) rs772017175 0.00002
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys) rs745451709 0.00002
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys) rs772327981 0.00002
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200 0.00002
NM_153717.3(EVC):c.626T>C (p.Val209Ala) rs1230866971 0.00002
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser) rs971237623 0.00001
NM_001199397.3(NEK1):c.1028A>G (p.Gln343Arg) rs184254879 0.00001
NM_001199397.3(NEK1):c.1206T>G (p.Asn402Lys) rs754999219 0.00001
NM_001199397.3(NEK1):c.1420C>T (p.Leu474Phe) rs1182459740 0.00001
NM_001199397.3(NEK1):c.1535C>T (p.Ala512Val) rs771824152 0.00001
NM_001199397.3(NEK1):c.1538T>C (p.Val513Ala) rs1217426330 0.00001
NM_001199397.3(NEK1):c.1625G>A (p.Arg542Gln) rs1032792680 0.00001
NM_001199397.3(NEK1):c.1822C>T (p.Arg608Cys) rs749461218 0.00001
NM_001199397.3(NEK1):c.2023G>A (p.Val675Ile) rs748009791 0.00001
NM_001199397.3(NEK1):c.2035G>A (p.Asp679Asn) rs1184211163 0.00001
NM_001199397.3(NEK1):c.2162G>A (p.Arg721Gln) rs370106222 0.00001
NM_001199397.3(NEK1):c.2392C>G (p.Leu798Val) rs1131690778 0.00001
NM_001199397.3(NEK1):c.2594C>A (p.Ser865Tyr) rs1373992801 0.00001
NM_001199397.3(NEK1):c.2991T>G (p.Asp997Glu) rs752555915 0.00001
NM_001199397.3(NEK1):c.3148C>T (p.Pro1050Ser) rs749326267 0.00001
NM_001199397.3(NEK1):c.3295G>C (p.Asp1099His) rs765205496 0.00001
NM_001199397.3(NEK1):c.3559G>A (p.Ala1187Thr) rs772991635 0.00001
NM_001199397.3(NEK1):c.3664G>A (p.Glu1222Lys) rs1219156888 0.00001
NM_001199397.3(NEK1):c.368A>C (p.Lys123Thr) rs1561472203 0.00001
NM_001199397.3(NEK1):c.3793C>T (p.His1265Tyr) rs747009789 0.00001
NM_001199397.3(NEK1):c.3830A>G (p.Asp1277Gly) rs1157065841 0.00001
NM_001199397.3(NEK1):c.3847+6A>G rs777525553 0.00001
NM_001199397.3(NEK1):c.460A>T (p.Asn154Tyr) rs756418625 0.00001
NM_001199397.3(NEK1):c.641A>G (p.Lys214Arg) rs1309738215 0.00001
NM_001199397.3(NEK1):c.781C>T (p.Arg261Cys) rs191859401 0.00001
NM_001199397.3(NEK1):c.80G>A (p.Gly27Asp) rs1419433113 0.00001
NM_001199397.3(NEK1):c.966G>C (p.Lys322Asn) rs1419138752 0.00001
NM_001329943.3(KIAA0586):c.*10G>A rs1280881561 0.00001
NM_001329943.3(KIAA0586):c.*24del rs775748329 0.00001
NM_001329943.3(KIAA0586):c.1007C>G (p.Ser336Cys) rs781781110 0.00001
NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met) rs769423672 0.00001
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) rs771000156 0.00001
NM_001329943.3(KIAA0586):c.1048_1049insACA (p.Pro350delinsHisThr) rs1406399353 0.00001
NM_001329943.3(KIAA0586):c.1078A>T (p.Arg360Trp) rs932782936 0.00001
NM_001329943.3(KIAA0586):c.1253+4A>G rs1182604650 0.00001
NM_001329943.3(KIAA0586):c.1396G>A (p.Asp466Asn) rs757196467 0.00001
NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile) rs779792778 0.00001
NM_001329943.3(KIAA0586):c.1516G>A (p.Glu506Lys) rs746704306 0.00001
NM_001329943.3(KIAA0586):c.1528C>T (p.Arg510Cys) rs778123212 0.00001
NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys) rs1445118511 0.00001
NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His) rs753917457 0.00001
NM_001329943.3(KIAA0586):c.1574C>G (p.Ser525Cys) rs1173352052 0.00001
NM_001329943.3(KIAA0586):c.1588A>T (p.Met530Leu) rs747120591 0.00001
NM_001329943.3(KIAA0586):c.1676A>G (p.Asp559Gly) rs1020004939 0.00001
NM_001329943.3(KIAA0586):c.1738A>G (p.Lys580Glu) rs1297075839 0.00001
NM_001329943.3(KIAA0586):c.1745T>C (p.Ile582Thr) rs1039498791 0.00001
NM_001329943.3(KIAA0586):c.1918G>A (p.Glu640Lys) rs1595193868 0.00001
NM_001329943.3(KIAA0586):c.1967G>A (p.Arg656Gln) rs1047721846 0.00001
NM_001329943.3(KIAA0586):c.199+6T>A rs764690540 0.00001
NM_001329943.3(KIAA0586):c.2051G>A (p.Arg684Gln) rs547990270 0.00001
NM_001329943.3(KIAA0586):c.2092G>T (p.Asp698Tyr) rs371583234 0.00001
NM_001329943.3(KIAA0586):c.2104A>G (p.Thr702Ala) rs558410911 0.00001
NM_001329943.3(KIAA0586):c.2119A>G (p.Met707Val) rs1200934389 0.00001
NM_001329943.3(KIAA0586):c.2123A>G (p.Asp708Gly) rs373601253 0.00001
NM_001329943.3(KIAA0586):c.2228A>T (p.His743Leu) rs1190897774 0.00001
NM_001329943.3(KIAA0586):c.2402T>A (p.Met801Lys) rs1267499182 0.00001
NM_001329943.3(KIAA0586):c.2417A>G (p.Lys806Arg) rs773759282 0.00001
NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn) rs922088604 0.00001
NM_001329943.3(KIAA0586):c.245T>C (p.Leu82Ser) rs955530356 0.00001
NM_001329943.3(KIAA0586):c.2511C>A (p.Ser837Arg) rs377409718 0.00001
NM_001329943.3(KIAA0586):c.2533C>T (p.Pro845Ser) rs377023593 0.00001
NM_001329943.3(KIAA0586):c.2629A>C (p.Ile877Leu) rs1338718674 0.00001
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly) rs770688785 0.00001
NM_001329943.3(KIAA0586):c.2719A>G (p.Asn907Asp) rs1261333772 0.00001
NM_001329943.3(KIAA0586):c.2728C>T (p.Pro910Ser) rs752882356 0.00001
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) rs537951340 0.00001
NM_001329943.3(KIAA0586):c.2822A>T (p.Gln941Leu) rs768032063 0.00001
NM_001329943.3(KIAA0586):c.2866T>C (p.Phe956Leu) rs943207254 0.00001
NM_001329943.3(KIAA0586):c.2908G>A (p.Val970Ile) rs368808852 0.00001
NM_001329943.3(KIAA0586):c.2938G>C (p.Asp980His) rs754818478 0.00001
NM_001329943.3(KIAA0586):c.2947G>A (p.Glu983Lys) rs563109987 0.00001
NM_001329943.3(KIAA0586):c.3143C>T (p.Pro1048Leu) rs369859399 0.00001
NM_001329943.3(KIAA0586):c.3170C>T (p.Thr1057Ile) rs772489368 0.00001
NM_001329943.3(KIAA0586):c.3205C>T (p.Pro1069Ser) rs766060506 0.00001
NM_001329943.3(KIAA0586):c.3247C>T (p.Pro1083Ser) rs373431045 0.00001
NM_001329943.3(KIAA0586):c.3325A>G (p.Met1109Val) rs773159825 0.00001
NM_001329943.3(KIAA0586):c.3350C>A (p.Thr1117Asn) rs758962196 0.00001
NM_001329943.3(KIAA0586):c.3391C>T (p.Pro1131Ser) rs1413013409 0.00001
NM_001329943.3(KIAA0586):c.3404A>G (p.Asp1135Gly) rs751729993 0.00001
NM_001329943.3(KIAA0586):c.3422T>C (p.Leu1141Ser) rs755937342 0.00001
NM_001329943.3(KIAA0586):c.3450G>C (p.Lys1150Asn) rs199517530 0.00001
NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu) rs1190269049 0.00001
NM_001329943.3(KIAA0586):c.3542C>G (p.Ala1181Gly) rs910865335 0.00001
NM_001329943.3(KIAA0586):c.3599C>T (p.Pro1200Leu) rs539304161 0.00001
NM_001329943.3(KIAA0586):c.3679G>C (p.Glu1227Gln) rs560315226 0.00001
NM_001329943.3(KIAA0586):c.3715A>G (p.Thr1239Ala) rs201889432 0.00001
NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val) rs1223415414 0.00001
NM_001329943.3(KIAA0586):c.3797G>C (p.Gly1266Ala) rs1256817386 0.00001
NM_001329943.3(KIAA0586):c.3857T>C (p.Met1286Thr) rs1256644781 0.00001
NM_001329943.3(KIAA0586):c.3884A>G (p.Gln1295Arg) rs1019828731 0.00001
NM_001329943.3(KIAA0586):c.3885A>C (p.Gln1295His) rs779179754 0.00001
NM_001329943.3(KIAA0586):c.3910T>A (p.Phe1304Ile) rs1441855459 0.00001
NM_001329943.3(KIAA0586):c.3914A>T (p.His1305Leu) rs966912655 0.00001
NM_001329943.3(KIAA0586):c.3935T>C (p.Phe1312Ser) rs912168236 0.00001
NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile) rs775143643 0.00001
NM_001329943.3(KIAA0586):c.4060A>G (p.Ile1354Val) rs1446993944 0.00001
NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr) rs1188851321 0.00001
NM_001329943.3(KIAA0586):c.4094C>T (p.Pro1365Leu) rs752429234 0.00001
NM_001329943.3(KIAA0586):c.4147C>T (p.Arg1383Trp) rs1015444951 0.00001
NM_001329943.3(KIAA0586):c.419G>A (p.Ser140Asn) rs754191741 0.00001
NM_001329943.3(KIAA0586):c.4496-3808A>C rs181384924 0.00001
NM_001329943.3(KIAA0586):c.4512A>G (p.Pro1504=) rs1476732636 0.00001
NM_001329943.3(KIAA0586):c.4572C>T (p.Leu1524=) rs371910625 0.00001
NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile) rs540188519 0.00001
NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met) rs1260723288 0.00001
NM_001329943.3(KIAA0586):c.556G>C (p.Ala186Pro) rs758886732 0.00001
NM_001329943.3(KIAA0586):c.592A>C (p.Ser198Arg) rs375374719 0.00001
NM_001329943.3(KIAA0586):c.668G>A (p.Arg223His) rs779062959 0.00001
NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu) rs780198735 0.00001
NM_001329943.3(KIAA0586):c.848A>G (p.Gln283Arg) rs772425621 0.00001
NM_001329943.3(KIAA0586):c.868T>G (p.Ser290Ala) rs1372486181 0.00001
NM_001329943.3(KIAA0586):c.881A>G (p.Glu294Gly) rs765495285 0.00001
NM_001329943.3(KIAA0586):c.892G>A (p.Val298Ile) rs751564059 0.00001
NM_001329943.3(KIAA0586):c.956A>G (p.Lys319Arg) rs1297972335 0.00001
NM_001375405.1(CEP120):c.1081C>T (p.His361Tyr) rs1409356450 0.00001
NM_001375405.1(CEP120):c.121A>G (p.Thr41Ala) rs1774507881 0.00001
NM_001375405.1(CEP120):c.160A>G (p.Thr54Ala) rs1452117593 0.00001
NM_001375405.1(CEP120):c.16G>T (p.Asp6Tyr) rs531662259 0.00001
NM_001375405.1(CEP120):c.1831C>T (p.Arg611Cys) rs150132498 0.00001
NM_001375405.1(CEP120):c.1946T>C (p.Leu649Ser) rs773146730 0.00001
NM_001375405.1(CEP120):c.1990C>A (p.Gln664Lys) rs749655305 0.00001
NM_001375405.1(CEP120):c.1A>G (p.Met1Val) rs1486546438 0.00001
NM_001375405.1(CEP120):c.2333A>G (p.Glu778Gly) rs200477463 0.00001
NM_001375405.1(CEP120):c.2443C>T (p.Arg815Cys) rs757166785 0.00001
NM_001375405.1(CEP120):c.253G>A (p.Val85Ile) rs1255595388 0.00001
NM_001375405.1(CEP120):c.2785A>C (p.Lys929Gln) rs1768847284 0.00001
NM_001375405.1(CEP120):c.508G>C (p.Val170Leu) rs756502328 0.00001
NM_001375405.1(CEP120):c.623G>A (p.Cys208Tyr) rs370960719 0.00001
NM_001375405.1(CEP120):c.802A>G (p.Lys268Glu) rs1421931952 0.00001
NM_001375405.1(CEP120):c.916G>A (p.Glu306Lys) rs777630050 0.00001
NM_001375405.1(CEP120):c.922G>C (p.Ala308Pro) rs772046806 0.00001
NM_001375405.1(CEP120):c.980A>C (p.Glu327Ala) rs1304562610 0.00001
NM_001375405.1(CEP120):c.991A>G (p.Thr331Ala) rs372144017 0.00001
NM_001377.3(DYNC2H1):c.10156A>G (p.Ile3386Val) rs765753338 0.00001
NM_001377.3(DYNC2H1):c.10241A>G (p.Asp3414Gly) rs1427712341 0.00001
NM_001377.3(DYNC2H1):c.10500C>T (p.Ser3500=) rs1409372884 0.00001
NM_001377.3(DYNC2H1):c.10586G>A (p.Arg3529Gln) rs753895545 0.00001
NM_001377.3(DYNC2H1):c.10662G>A (p.Met3554Ile) rs1453829346 0.00001
NM_001377.3(DYNC2H1):c.1069T>C (p.Cys357Arg) rs1235977629 0.00001
NM_001377.3(DYNC2H1):c.10844C>T (p.Pro3615Leu) rs1468117934 0.00001
NM_001377.3(DYNC2H1):c.11310T>G (p.Cys3770Trp) rs771899759 0.00001
NM_001377.3(DYNC2H1):c.11603C>G (p.Ala3868Gly) rs1213780831 0.00001
NM_001377.3(DYNC2H1):c.11714G>A (p.Arg3905Lys) rs367559900 0.00001
NM_001377.3(DYNC2H1):c.12766-4A>G rs764918619 0.00001
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272 0.00001
NM_001377.3(DYNC2H1):c.12924G>C (p.Ter4308Tyr) rs199566086 0.00001
NM_001377.3(DYNC2H1):c.1385G>A (p.Arg462Gln) rs772239748 0.00001
NM_001377.3(DYNC2H1):c.1604T>C (p.Phe535Ser) rs1238325809 0.00001
NM_001377.3(DYNC2H1):c.1715A>T (p.Lys572Ile) rs190861340 0.00001
NM_001377.3(DYNC2H1):c.196-6C>G rs1252539726 0.00001
NM_001377.3(DYNC2H1):c.1967G>A (p.Gly656Glu) rs1859382317 0.00001
NM_001377.3(DYNC2H1):c.2142G>C (p.Gln714His) rs182352825 0.00001
NM_001377.3(DYNC2H1):c.2920A>G (p.Ser974Gly) rs775896895 0.00001
NM_001377.3(DYNC2H1):c.2996C>T (p.Thr999Ile) rs753542063 0.00001
NM_001377.3(DYNC2H1):c.2del (p.Met1fs) rs752782000 0.00001
NM_001377.3(DYNC2H1):c.3337A>G (p.Asn1113Asp) rs1425616959 0.00001
NM_001377.3(DYNC2H1):c.3458G>A (p.Arg1153Gln) rs869312924 0.00001
NM_001377.3(DYNC2H1):c.3574A>G (p.Ile1192Val) rs1421509501 0.00001
NM_001377.3(DYNC2H1):c.3793C>T (p.Arg1265Cys) rs576131731 0.00001
NM_001377.3(DYNC2H1):c.4295T>C (p.Ile1432Thr) rs776944417 0.00001
NM_001377.3(DYNC2H1):c.4369C>A (p.Leu1457Ile) rs778829457 0.00001
NM_001377.3(DYNC2H1):c.439A>G (p.Ile147Val) rs915084265 0.00001
NM_001377.3(DYNC2H1):c.4491+5G>A rs749681136 0.00001
NM_001377.3(DYNC2H1):c.466T>A (p.Leu156Ile) rs765931519 0.00001
NM_001377.3(DYNC2H1):c.503-3T>C rs368561058 0.00001
NM_001377.3(DYNC2H1):c.5134G>C (p.Val1712Leu) rs1861515366 0.00001
NM_001377.3(DYNC2H1):c.54G>T (p.Gln18His) rs762801465 0.00001
NM_001377.3(DYNC2H1):c.5512G>A (p.Ala1838Thr) rs777912444 0.00001
NM_001377.3(DYNC2H1):c.5690T>C (p.Ile1897Thr) rs141509896 0.00001
NM_001377.3(DYNC2H1):c.5855A>T (p.Tyr1952Phe) rs756750628 0.00001
NM_001377.3(DYNC2H1):c.6051A>G (p.Gln2017=) rs1261404836 0.00001
NM_001377.3(DYNC2H1):c.6299G>A (p.Ser2100Asn) rs780161589 0.00001
NM_001377.3(DYNC2H1):c.6667T>A (p.Phe2223Ile) rs191633349 0.00001
NM_001377.3(DYNC2H1):c.6676C>T (p.Pro2226Ser) rs912686507 0.00001
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849 0.00001
NM_001377.3(DYNC2H1):c.7607G>A (p.Arg2536His) rs376790555 0.00001
NM_001377.3(DYNC2H1):c.7839+6A>G rs1432491048 0.00001
NM_001377.3(DYNC2H1):c.7942G>A (p.Gly2648Arg) rs1486830954 0.00001
NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met) rs1060501431 0.00001
NM_001377.3(DYNC2H1):c.8513G>A (p.Arg2838Gln) rs766069993 0.00001
NM_001377.3(DYNC2H1):c.8621C>T (p.Thr2874Ile) rs1274718345 0.00001
NM_001377.3(DYNC2H1):c.8692C>G (p.Gln2898Glu) rs1158593749 0.00001
NM_001377.3(DYNC2H1):c.8719G>A (p.Ala2907Thr) rs1863353530 0.00001
NM_001377.3(DYNC2H1):c.9391G>A (p.Glu3131Lys) rs983700534 0.00001
NM_001377.3(DYNC2H1):c.9577A>G (p.Ile3193Val) rs886047571 0.00001
NM_014714.4(IFT140):c.1090G>A (p.Glu364Lys) rs1279456870 0.00001
NM_014714.4(IFT140):c.1096A>G (p.Lys366Glu) rs776044753 0.00001
NM_014714.4(IFT140):c.1124C>T (p.Thr375Ile) rs777159234 0.00001
NM_014714.4(IFT140):c.1133A>G (p.Gln378Arg) rs1470456078 0.00001
NM_014714.4(IFT140):c.1156-6A>G rs769650753 0.00001
NM_014714.4(IFT140):c.1216G>A (p.Glu406Lys) rs755177677 0.00001
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro) rs770890983 0.00001
NM_014714.4(IFT140):c.1260G>A (p.Met420Ile) rs2034748123 0.00001
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met) rs762293142 0.00001
NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys) rs758986711 0.00001
NM_014714.4(IFT140):c.1339A>G (p.Ser447Gly) rs1030260747 0.00001
NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly) rs376263938 0.00001
NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys) rs756882000 0.00001
NM_014714.4(IFT140):c.1418C>T (p.Ala473Val) rs765322119 0.00001
NM_014714.4(IFT140):c.1423C>T (p.Arg475Trp) rs771838598 0.00001
NM_014714.4(IFT140):c.1433G>A (p.Gly478Glu) rs1322686700 0.00001
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu) rs770727161 0.00001
NM_014714.4(IFT140):c.1469A>G (p.His490Arg) rs537123341 0.00001
NM_014714.4(IFT140):c.147+6T>C rs1387119490 0.00001
NM_014714.4(IFT140):c.1553C>T (p.Ser518Leu) rs761365882 0.00001
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile) rs1321089981 0.00001
NM_014714.4(IFT140):c.155G>A (p.Cys52Tyr) rs765500124 0.00001
NM_014714.4(IFT140):c.157G>A (p.Val53Met) rs776811329 0.00001
NM_014714.4(IFT140):c.1585A>G (p.Ile529Val) rs145895414 0.00001
NM_014714.4(IFT140):c.1607T>C (p.Val536Ala) rs1206065799 0.00001
NM_014714.4(IFT140):c.1688C>T (p.Ala563Val) rs968524691 0.00001
NM_014714.4(IFT140):c.1708G>C (p.Gly570Arg) rs749278176 0.00001
NM_014714.4(IFT140):c.1741G>A (p.Gly581Arg) rs532971915 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.182C>T (p.Pro61Leu) rs757082667 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.2009C>T (p.Pro670Leu) rs149845330 0.00001
NM_014714.4(IFT140):c.2012G>A (p.Arg671His) rs1372026395 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.2078T>C (p.Leu693Ser) rs370031319 0.00001
NM_014714.4(IFT140):c.2103A>G (p.Glu701=) rs1567373288 0.00001
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_014714.4(IFT140):c.217C>T (p.Arg73Trp) rs201990219 0.00001
NM_014714.4(IFT140):c.2209G>A (p.Ala737Thr) rs1161696291 0.00001
NM_014714.4(IFT140):c.2242C>T (p.His748Tyr) rs760427350 0.00001
NM_014714.4(IFT140):c.2261T>C (p.Val754Ala) rs754474621 0.00001
NM_014714.4(IFT140):c.2279G>A (p.Arg760Gln) rs780086795 0.00001
NM_014714.4(IFT140):c.2303G>A (p.Cys768Tyr) rs145283562 0.00001
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln) rs140458893 0.00001
NM_014714.4(IFT140):c.2323G>A (p.Ala775Thr) rs771255082 0.00001
NM_014714.4(IFT140):c.2438A>C (p.Lys813Thr) rs1350594828 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.2485C>T (p.His829Tyr) rs921816941 0.00001
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys) rs754073086 0.00001
NM_014714.4(IFT140):c.2536G>A (p.Glu846Lys) rs896477215 0.00001
NM_014714.4(IFT140):c.2545G>A (p.Val849Met) rs771662799 0.00001
NM_014714.4(IFT140):c.257C>T (p.Thr86Met) rs1159315989 0.00001
NM_014714.4(IFT140):c.2686G>A (p.Asp896Asn) rs775236964 0.00001
NM_014714.4(IFT140):c.2689C>T (p.Arg897Cys) rs769761601 0.00001
NM_014714.4(IFT140):c.2690G>A (p.Arg897His) rs745863942 0.00001
NM_014714.4(IFT140):c.2714A>G (p.His905Arg) rs1255418645 0.00001
NM_014714.4(IFT140):c.2792G>A (p.Arg931His) rs200088700 0.00001
NM_014714.4(IFT140):c.280G>A (p.Glu94Lys) rs768102481 0.00001
NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro) rs145549969 0.00001
NM_014714.4(IFT140):c.2885C>T (p.Ala962Val) rs1371411242 0.00001
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys) rs143720412 0.00001
NM_014714.4(IFT140):c.2912T>C (p.Met971Thr) rs761061336 0.00001
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val) rs745576178 0.00001
NM_014714.4(IFT140):c.2984G>T (p.Gly995Val) rs772919008 0.00001
NM_014714.4(IFT140):c.3016G>A (p.Glu1006Lys) rs375292299 0.00001
NM_014714.4(IFT140):c.3076G>A (p.Val1026Ile) rs779289178 0.00001
NM_014714.4(IFT140):c.3077T>C (p.Val1026Ala) rs755333071 0.00001
NM_014714.4(IFT140):c.3086C>T (p.Ala1029Val) rs757852837 0.00001
NM_014714.4(IFT140):c.3131G>A (p.Arg1044His) rs577498082 0.00001
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys) rs777230794 0.00001
NM_014714.4(IFT140):c.3223G>A (p.Glu1075Lys) rs936261766 0.00001
NM_014714.4(IFT140):c.3226G>A (p.Glu1076Lys) rs773620301 0.00001
NM_014714.4(IFT140):c.3251C>A (p.Ala1084Glu) rs757199524 0.00001
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr) rs760652531 0.00001
NM_014714.4(IFT140):c.3348C>A (p.Asp1116Glu) rs1438729385 0.00001
NM_014714.4(IFT140):c.3359C>T (p.Thr1120Met) rs756215215 0.00001
NM_014714.4(IFT140):c.3418G>A (p.Glu1140Lys) rs564935788 0.00001
NM_014714.4(IFT140):c.3453+4C>T rs367744951 0.00001
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu) rs772423904 0.00001
NM_014714.4(IFT140):c.3512C>T (p.Ala1171Val) rs1158940284 0.00001
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln) rs780533679 0.00001
NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln) rs149837281 0.00001
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg) rs754978656 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.3767C>T (p.Ser1256Phe) rs1325819285 0.00001
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu) rs775044452 0.00001
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg) rs755596826 0.00001
NM_014714.4(IFT140):c.3928G>A (p.Ala1310Thr) rs1055889482 0.00001
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu) rs776809726 0.00001
NM_014714.4(IFT140):c.4040+4T>A rs1402787371 0.00001
NM_014714.4(IFT140):c.4073A>G (p.Lys1358Arg) rs763363588 0.00001
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg) rs907401737 0.00001
NM_014714.4(IFT140):c.4104C>A (p.Asp1368Glu) rs746684542 0.00001
NM_014714.4(IFT140):c.4172A>G (p.Glu1391Gly) rs1386350816 0.00001
NM_014714.4(IFT140):c.4182+4A>C rs1439771269 0.00001
NM_014714.4(IFT140):c.4210C>T (p.Arg1404Trp) rs1465721813 0.00001
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met) rs756711276 0.00001
NM_014714.4(IFT140):c.4300A>G (p.Thr1434Ala) rs761959670 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014714.4(IFT140):c.488G>T (p.Gly163Val) rs1368823319 0.00001
NM_014714.4(IFT140):c.529G>A (p.Asp177Asn) rs774439512 0.00001
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) rs555382397 0.00001
NM_014714.4(IFT140):c.740T>C (p.Val247Ala) rs1231656459 0.00001
NM_014714.4(IFT140):c.752A>G (p.Asn251Ser) rs1277927981 0.00001
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe) rs1442341163 0.00001
NM_014714.4(IFT140):c.877A>T (p.Met293Leu) rs761441382 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 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.1108G>A (p.Val370Met) rs1186256423 0.00001
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg) rs745554539 0.00001
NM_015662.3(IFT172):c.1172C>T (p.Ala391Val) rs781225823 0.00001
NM_015662.3(IFT172):c.1215T>G (p.Asn405Lys) rs143661402 0.00001
NM_015662.3(IFT172):c.1221T>G (p.Asn407Lys) rs1470090185 0.00001
NM_015662.3(IFT172):c.1306A>G (p.Met436Val) rs753911273 0.00001
NM_015662.3(IFT172):c.1352G>A (p.Arg451Gln) rs753504432 0.00001
NM_015662.3(IFT172):c.1355G>A (p.Gly452Glu) rs763724145 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.1537G>A (p.Asp513Asn) rs959481954 0.00001
NM_015662.3(IFT172):c.1579T>C (p.Ser527Pro) rs771614435 0.00001
NM_015662.3(IFT172):c.159C>A (p.Phe53Leu) rs768058682 0.00001
NM_015662.3(IFT172):c.1609G>A (p.Val537Met) rs868020223 0.00001
NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln) rs755926439 0.00001
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr) rs780205001 0.00001
NM_015662.3(IFT172):c.1694G>A (p.Gly565Asp) rs758357901 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.1937+10A>G rs544892086 0.00001
NM_015662.3(IFT172):c.2035A>G (p.Thr679Ala) rs746240262 0.00001
NM_015662.3(IFT172):c.2050G>A (p.Val684Ile) rs1400020833 0.00001
NM_015662.3(IFT172):c.2059C>T (p.Arg687Cys) rs145946722 0.00001
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) rs144645349 0.00001
NM_015662.3(IFT172):c.2194-3C>T rs906297666 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.2293G>A (p.Asp765Asn) rs367874978 0.00001
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val) rs145926013 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.2452C>T (p.Leu818Phe) rs374015331 0.00001
NM_015662.3(IFT172):c.2498G>A (p.Arg833His) rs756767071 0.00001
NM_015662.3(IFT172):c.2509G>A (p.Ala837Thr) rs752494593 0.00001
NM_015662.3(IFT172):c.2537G>A (p.Arg846Gln) rs199784373 0.00001
NM_015662.3(IFT172):c.2548C>G (p.Pro850Ala) rs1401639649 0.00001
NM_015662.3(IFT172):c.263A>G (p.Asn88Ser) rs1443634104 0.00001
NM_015662.3(IFT172):c.2653A>G (p.Lys885Glu) rs975731134 0.00001
NM_015662.3(IFT172):c.2680C>T (p.Arg894Cys) rs370531520 0.00001
NM_015662.3(IFT172):c.2691G>T (p.Lys897Asn) rs1320948238 0.00001
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr) rs776148073 0.00001
NM_015662.3(IFT172):c.2846C>A (p.Thr949Asn) rs1275938087 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.3094C>T (p.His1032Tyr) rs752920969 0.00001
NM_015662.3(IFT172):c.3131G>A (p.Arg1044Gln) rs755990223 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.3370T>C (p.Cys1124Arg) rs931407294 0.00001
NM_015662.3(IFT172):c.338G>A (p.Ser113Asn) rs778306652 0.00001
NM_015662.3(IFT172):c.347C>T (p.Thr116Ile) rs751230602 0.00001
NM_015662.3(IFT172):c.3568G>A (p.Val1190Met) rs1456528874 0.00001
NM_015662.3(IFT172):c.3575A>G (p.Glu1192Gly) rs1356192791 0.00001
NM_015662.3(IFT172):c.3583G>A (p.Asp1195Asn) rs762074176 0.00001
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp) rs779395435 0.00001
NM_015662.3(IFT172):c.3746G>A (p.Cys1249Tyr) rs139455520 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.3778C>G (p.Leu1260Val) rs1012597627 0.00001
NM_015662.3(IFT172):c.3796C>T (p.Arg1266Trp) rs902724768 0.00001
NM_015662.3(IFT172):c.3836T>C (p.Phe1279Ser) rs1303152998 0.00001
NM_015662.3(IFT172):c.3859G>A (p.Glu1287Lys) rs1336146422 0.00001
NM_015662.3(IFT172):c.3877A>G (p.Ser1293Gly) rs780413940 0.00001
NM_015662.3(IFT172):c.3881G>A (p.Arg1294His) rs947637366 0.00001
NM_015662.3(IFT172):c.3886G>A (p.Val1296Met) rs757728167 0.00001
NM_015662.3(IFT172):c.3908G>A (p.Arg1303Gln) rs768194578 0.00001
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val) rs760562906 0.00001
NM_015662.3(IFT172):c.4003G>A (p.Val1335Ile) rs755670491 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.407G>A (p.Arg136His) rs763923637 0.00001
NM_015662.3(IFT172):c.4180C>G (p.Gln1394Glu) rs963343817 0.00001
NM_015662.3(IFT172):c.4199T>C (p.Leu1400Pro) rs371612970 0.00001
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu) rs760582917 0.00001
NM_015662.3(IFT172):c.4239T>G (p.Asp1413Glu) rs748345321 0.00001
NM_015662.3(IFT172):c.4244T>G (p.Ile1415Arg) rs1665446592 0.00001
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala) rs761701917 0.00001
NM_015662.3(IFT172):c.4366G>A (p.Glu1456Lys) rs775476765 0.00001
NM_015662.3(IFT172):c.4417G>A (p.Ala1473Thr) rs749834823 0.00001
NM_015662.3(IFT172):c.4539+6G>A rs745480523 0.00001
NM_015662.3(IFT172):c.4542T>G (p.Cys1514Trp) rs758565766 0.00001
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys) rs764604255 0.00001
NM_015662.3(IFT172):c.4637C>T (p.Ala1546Val) rs1290255701 0.00001
NM_015662.3(IFT172):c.4644G>C (p.Gln1548His) rs746827700 0.00001
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser) rs777980611 0.00001
NM_015662.3(IFT172):c.4759G>A (p.Val1587Ile) rs774941853 0.00001
NM_015662.3(IFT172):c.4775T>C (p.Met1592Thr) rs773569919 0.00001
NM_015662.3(IFT172):c.4847A>G (p.Asp1616Gly) rs754517347 0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) rs201840472 0.00001
NM_015662.3(IFT172):c.4921G>A (p.Glu1641Lys) rs370504937 0.00001
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln) rs549415233 0.00001
NM_015662.3(IFT172):c.4975G>C (p.Glu1659Gln) rs1488810130 0.00001
NM_015662.3(IFT172):c.4981G>A (p.Val1661Ile) rs779670290 0.00001
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln) rs749884570 0.00001
NM_015662.3(IFT172):c.4997A>G (p.Glu1666Gly) rs1664968356 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.5149A>C (p.Met1717Leu) rs146309780 0.00001
NM_015662.3(IFT172):c.5160+5G>A rs1664926036 0.00001
NM_015662.3(IFT172):c.5170A>C (p.Ser1724Arg) rs148800421 0.00001
NM_015662.3(IFT172):c.5182C>A (p.Gln1728Lys) rs753075654 0.00001
NM_015662.3(IFT172):c.5188G>A (p.Val1730Met) rs985755052 0.00001
NM_015662.3(IFT172):c.599C>G (p.Pro200Arg) rs776260844 0.00001
NM_015662.3(IFT172):c.59C>T (p.Thr20Ile) rs751486617 0.00001
NM_015662.3(IFT172):c.5A>C (p.His2Pro) rs781257867 0.00001
NM_015662.3(IFT172):c.610G>T (p.Ala204Ser) rs1437164423 0.00001
NM_015662.3(IFT172):c.649C>T (p.Arg217Trp) rs773661262 0.00001
NM_015662.3(IFT172):c.739G>C (p.Val247Leu) rs144379702 0.00001
NM_015662.3(IFT172):c.785G>T (p.Arg262Met) rs1235295289 0.00001
NM_015662.3(IFT172):c.790C>T (p.Arg264Trp) rs750783565 0.00001
NM_015662.3(IFT172):c.812G>A (p.Arg271Gln) rs375847990 0.00001
NM_015662.3(IFT172):c.860A>G (p.Tyr287Cys) rs766223232 0.00001
NM_015662.3(IFT172):c.8T>G (p.Leu3Trp) rs1246454433 0.00001
NM_015662.3(IFT172):c.909G>A (p.Val303=) rs139685481 0.00001
NM_015662.3(IFT172):c.952C>G (p.Arg318Gly) rs751177541 0.00001
NM_018051.5(DYNC2I1):c.104A>G (p.Lys35Arg) rs774295782 0.00001
NM_018051.5(DYNC2I1):c.1139A>G (p.Asp380Gly) rs767594582 0.00001
NM_018051.5(DYNC2I1):c.1228C>G (p.Leu410Val) rs866385885 0.00001
NM_018051.5(DYNC2I1):c.1461-13A>G rs749505270 0.00001
NM_018051.5(DYNC2I1):c.1628A>G (p.Asp543Gly) rs1585131344 0.00001
NM_018051.5(DYNC2I1):c.1642G>A (p.Glu548Lys) rs761082389 0.00001
NM_018051.5(DYNC2I1):c.1882A>G (p.Ser628Gly) rs759364238 0.00001
NM_018051.5(DYNC2I1):c.1993G>A (p.Glu665Lys) rs764530886 0.00001
NM_018051.5(DYNC2I1):c.2121G>T (p.Leu707Phe) rs766537162 0.00001
NM_018051.5(DYNC2I1):c.2822C>T (p.Ser941Phe) rs1585253516 0.00001
NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs) rs748645101 0.00001
NM_018051.5(DYNC2I1):c.3077C>T (p.Ala1026Val) rs370850399 0.00001
NM_018051.5(DYNC2I1):c.3169G>A (p.Ala1057Thr) rs1162389472 0.00001
NM_018051.5(DYNC2I1):c.436C>A (p.Gln146Lys) rs1251160543 0.00001
NM_018051.5(DYNC2I1):c.574-10T>A rs188181596 0.00001
NM_018051.5(DYNC2I1):c.633C>T (p.Gly211=) rs375240436 0.00001
NM_018051.5(DYNC2I1):c.751A>C (p.Lys251Gln) rs1200188970 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.1104A>G (p.Lys368=) rs745634789 0.00001
NM_020779.4(WDR35):c.1220T>C (p.Ile407Thr) rs780584500 0.00001
NM_020779.4(WDR35):c.1276A>G (p.Thr426Ala) rs1371644144 0.00001
NM_020779.4(WDR35):c.1310C>T (p.Ala437Val) rs1671332812 0.00001
NM_020779.4(WDR35):c.1470+6T>C rs1162916086 0.00001
NM_020779.4(WDR35):c.1526G>T (p.Gly509Val) rs398123536 0.00001
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser) rs139252416 0.00001
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala) rs758919526 0.00001
NM_020779.4(WDR35):c.1991G>A (p.Arg664Gln) rs750367225 0.00001
NM_020779.4(WDR35):c.2524C>T (p.Pro842Ser) rs777217654 0.00001
NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly) rs199849430 0.00001
NM_020779.4(WDR35):c.2672T>C (p.Val891Ala) rs370706293 0.00001
NM_020779.4(WDR35):c.2779C>T (p.Arg927Trp) rs149815363 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.3412G>A (p.Glu1138Lys) rs978909925 0.00001
NM_020779.4(WDR35):c.485T>C (p.Val162Ala) rs754439440 0.00001
NM_020779.4(WDR35):c.626G>A (p.Gly209Glu) rs1410550467 0.00001
NM_020779.4(WDR35):c.722A>G (p.His241Arg) rs138366348 0.00001
NM_020800.3(IFT80):c.1006A>G (p.Arg336Gly) rs775835775 0.00001
NM_020800.3(IFT80):c.1121G>A (p.Gly374Glu) rs1448235153 0.00001
NM_020800.3(IFT80):c.1158T>A (p.Phe386Leu) rs755957651 0.00001
NM_020800.3(IFT80):c.1219C>T (p.Pro407Ser) rs1345262813 0.00001
NM_020800.3(IFT80):c.1303G>A (p.Ala435Thr) rs747879864 0.00001
NM_020800.3(IFT80):c.1316T>G (p.Ile439Arg) rs780934693 0.00001
NM_020800.3(IFT80):c.1342G>A (p.Gly448Arg) rs757507718 0.00001
NM_020800.3(IFT80):c.1376A>G (p.His459Arg) rs1351949409 0.00001
NM_020800.3(IFT80):c.1522A>G (p.Met508Val) rs747457756 0.00001
NM_020800.3(IFT80):c.1546G>A (p.Asp516Asn) rs1328308378 0.00001
NM_020800.3(IFT80):c.1552T>C (p.Cys518Arg) rs1418914019 0.00001
NM_020800.3(IFT80):c.1607A>G (p.Asn536Ser) rs1299756605 0.00001
NM_020800.3(IFT80):c.1610C>G (p.Thr537Arg) rs149274965 0.00001
NM_020800.3(IFT80):c.1627G>A (p.Asp543Asn) rs535870220 0.00001
NM_020800.3(IFT80):c.1628A>G (p.Asp543Gly) rs746408528 0.00001
NM_020800.3(IFT80):c.1675A>G (p.Lys559Glu) rs1248669654 0.00001
NM_020800.3(IFT80):c.1715C>T (p.Thr572Ile) rs751538474 0.00001
NM_020800.3(IFT80):c.178A>G (p.Ile60Val) rs780018349 0.00001
NM_020800.3(IFT80):c.1836+5T>C rs373116334 0.00001
NM_020800.3(IFT80):c.1858C>G (p.Leu620Val) rs1037844686 0.00001
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val) rs779103873 0.00001
NM_020800.3(IFT80):c.1997T>C (p.Leu666Pro) rs754345105 0.00001
NM_020800.3(IFT80):c.2116G>A (p.Val706Ile) rs943067730 0.00001
NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr) rs370294182 0.00001
NM_020800.3(IFT80):c.2155C>T (p.Arg719Cys) rs764764460 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.2244A>T (p.Lys748Asn) rs769905264 0.00001
NM_020800.3(IFT80):c.2245A>G (p.Ile749Val) rs891421267 0.00001
NM_020800.3(IFT80):c.2297G>C (p.Ser766Thr) rs745522185 0.00001
NM_020800.3(IFT80):c.269A>G (p.His90Arg) rs762134619 0.00001
NM_020800.3(IFT80):c.352G>A (p.Gly118Arg) rs1193677073 0.00001
NM_020800.3(IFT80):c.38-1C>G rs779785603 0.00001
NM_020800.3(IFT80):c.461C>T (p.Ala154Val) rs899479641 0.00001
NM_020800.3(IFT80):c.517A>C (p.Lys173Gln) rs1327849611 0.00001
NM_020800.3(IFT80):c.521C>T (p.Pro174Leu) rs554727578 0.00001
NM_020800.3(IFT80):c.599A>G (p.Asn200Ser) rs1468017879 0.00001
NM_020800.3(IFT80):c.619G>A (p.Gly207Ser) rs756838676 0.00001
NM_020800.3(IFT80):c.624A>C (p.Glu208Asp) rs1278015440 0.00001
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys) rs373133351 0.00001
NM_020800.3(IFT80):c.680C>T (p.Pro227Leu) rs764107423 0.00001
NM_020800.3(IFT80):c.685G>A (p.Glu229Lys) rs1721069446 0.00001
NM_020800.3(IFT80):c.743C>T (p.Ser248Leu) rs754764834 0.00001
NM_024753.5(TTC21B):c.1022A>C (p.Lys341Thr) rs1686837269 0.00001
NM_024753.5(TTC21B):c.105T>G (p.Ser35Arg) rs750039189 0.00001
NM_024753.5(TTC21B):c.1088-3T>C rs761658519 0.00001
NM_024753.5(TTC21B):c.117C>G (p.Phe39Leu) rs1559078793 0.00001
NM_024753.5(TTC21B):c.1186-10T>G rs1352577616 0.00001
NM_024753.5(TTC21B):c.1259A>G (p.Asn420Ser) rs1267990831 0.00001
NM_024753.5(TTC21B):c.1277A>G (p.His426Arg) rs981361200 0.00001
NM_024753.5(TTC21B):c.1301C>G (p.Pro434Arg) rs971283288 0.00001
NM_024753.5(TTC21B):c.1327C>G (p.Leu443Val) rs772177785 0.00001
NM_024753.5(TTC21B):c.1406C>G (p.Pro469Arg) rs370444625 0.00001
NM_024753.5(TTC21B):c.1431C>G (p.Cys477Trp) rs751822992 0.00001
NM_024753.5(TTC21B):c.1432A>T (p.Ile478Phe) rs948455096 0.00001
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825 0.00001
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900 0.00001
NM_024753.5(TTC21B):c.1543C>T (p.Leu515Phe) rs1246746208 0.00001
NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val) rs200916824 0.00001
NM_024753.5(TTC21B):c.1643C>G (p.Ser548Cys) rs777801181 0.00001
NM_024753.5(TTC21B):c.1685A>G (p.Tyr562Cys) rs1686220039 0.00001
NM_024753.5(TTC21B):c.1687C>G (p.Pro563Ala) rs757173737 0.00001
NM_024753.5(TTC21B):c.169C>T (p.Leu57Phe) rs139392369 0.00001
NM_024753.5(TTC21B):c.1793T>C (p.Ile598Thr) rs143612688 0.00001
NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile) rs144411419 0.00001
NM_024753.5(TTC21B):c.1882C>T (p.Arg628Cys) rs367855384 0.00001
NM_024753.5(TTC21B):c.1A>G (p.Met1Val) rs1435376086 0.00001
NM_024753.5(TTC21B):c.2123A>G (p.Tyr708Cys) rs756694027 0.00001
NM_024753.5(TTC21B):c.2138G>T (p.Arg713Ile) rs781708463 0.00001
NM_024753.5(TTC21B):c.2167C>T (p.Arg723Trp) rs201500142 0.00001
NM_024753.5(TTC21B):c.226G>T (p.Ala76Ser) rs1272269691 0.00001
NM_024753.5(TTC21B):c.2324C>T (p.Ala775Val) rs753608608 0.00001
NM_024753.5(TTC21B):c.2344G>C (p.Ala782Pro) rs752254910 0.00001
NM_024753.5(TTC21B):c.2360A>G (p.Gln787Arg) rs760057103 0.00001
NM_024753.5(TTC21B):c.2416G>C (p.Asp806His) rs1685925440 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.2494C>T (p.Arg832Cys) rs1439121645 0.00001
NM_024753.5(TTC21B):c.2540T>C (p.Leu847Pro) rs750709791 0.00001
NM_024753.5(TTC21B):c.2572C>G (p.Arg858Gly) rs895624584 0.00001
NM_024753.5(TTC21B):c.2599C>T (p.Arg867Cys) rs746700857 0.00001
NM_024753.5(TTC21B):c.2636A>C (p.Gln879Pro) rs375464714 0.00001
NM_024753.5(TTC21B):c.2698T>A (p.Tyr900Asn) rs1336338964 0.00001
NM_024753.5(TTC21B):c.2699A>G (p.Tyr900Cys) rs766007738 0.00001
NM_024753.5(TTC21B):c.2726A>T (p.Glu909Val) rs1433947584 0.00001
NM_024753.5(TTC21B):c.2734G>C (p.Val912Leu) rs756613993 0.00001
NM_024753.5(TTC21B):c.2782T>C (p.Tyr928His) rs1685493736 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.2961G>A (p.Met987Ile) rs778812999 0.00001
NM_024753.5(TTC21B):c.3032T>C (p.Met1011Thr) rs777427926 0.00001
NM_024753.5(TTC21B):c.3034G>A (p.Ala1012Thr) rs769459956 0.00001
NM_024753.5(TTC21B):c.3044G>A (p.Arg1015His) rs1235756793 0.00001
NM_024753.5(TTC21B):c.305A>G (p.Gln102Arg) rs748245713 0.00001
NM_024753.5(TTC21B):c.3158G>A (p.Arg1053His) rs768306526 0.00001
NM_024753.5(TTC21B):c.3190A>T (p.Ile1064Leu) rs1004469692 0.00001
NM_024753.5(TTC21B):c.3265A>G (p.Asn1089Asp) rs1403922219 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.3383A>G (p.Tyr1128Cys) rs1685078744 0.00001
NM_024753.5(TTC21B):c.3423A>G (p.Gln1141=) rs1176724856 0.00001
NM_024753.5(TTC21B):c.3460-3T>C rs754665883 0.00001
NM_024753.5(TTC21B):c.3500A>G (p.Tyr1167Cys) rs1040877016 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.3548T>C (p.Ile1183Thr) rs780846081 0.00001
NM_024753.5(TTC21B):c.3551C>T (p.Ala1184Val) rs754751728 0.00001
NM_024753.5(TTC21B):c.3586T>G (p.Phe1196Val) rs754307147 0.00001
NM_024753.5(TTC21B):c.3622A>G (p.Ile1208Val) rs760982788 0.00001
NM_024753.5(TTC21B):c.3668G>T (p.Cys1223Phe) rs1225739712 0.00001
NM_024753.5(TTC21B):c.3674G>A (p.Arg1225His) rs1231210163 0.00001
NM_024753.5(TTC21B):c.3680A>G (p.Asn1227Ser) rs771598715 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.3886del (p.His1296fs) rs1452582965 0.00001
NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu) rs756943619 0.00001
NM_024753.5(TTC21B):c.412T>C (p.Ser138Pro) rs1315060629 0.00001
NM_024753.5(TTC21B):c.419G>A (p.Gly140Asp) rs779381150 0.00001
NM_024753.5(TTC21B):c.499T>G (p.Tyr167Asp) rs776678493 0.00001
NM_024753.5(TTC21B):c.518A>C (p.Gln173Pro) rs775266613 0.00001
NM_024753.5(TTC21B):c.51A>G (p.Arg17=) rs1242174524 0.00001
NM_024753.5(TTC21B):c.550A>G (p.Lys184Glu) rs748570902 0.00001
NM_024753.5(TTC21B):c.572G>A (p.Arg191His) rs781486283 0.00001
NM_024753.5(TTC21B):c.670G>A (p.Ala224Thr) rs1423263208 0.00001
NM_024753.5(TTC21B):c.718C>T (p.Leu240Phe) rs1338382358 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_024753.5(TTC21B):c.946G>T (p.Ala316Ser) rs1366178129 0.00001
NM_024753.5(TTC21B):c.985G>A (p.Glu329Lys) rs768266139 0.00001
NM_025132.4(WDR19):c.1066G>A (p.Ala356Thr) rs565630355 0.00001
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala) rs745627337 0.00001
NM_025132.4(WDR19):c.1121A>G (p.Asn374Ser) rs1729030821 0.00001
NM_025132.4(WDR19):c.1232A>G (p.Tyr411Cys) rs761268969 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1466T>C (p.Ile489Thr) rs1729266547 0.00001
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.1487T>C (p.Val496Ala) rs772209665 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_025132.4(WDR19):c.1522G>A (p.Val508Ile) rs764106666 0.00001
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) rs537283735 0.00001
NM_025132.4(WDR19):c.1567G>A (p.Asp523Asn) rs557405566 0.00001
NM_025132.4(WDR19):c.1679G>A (p.Gly560Asp) rs375777724 0.00001
NM_025132.4(WDR19):c.1716A>G (p.Val572=) rs1730484886 0.00001
NM_025132.4(WDR19):c.1749T>G (p.Thr583=) rs767572787 0.00001
NM_025132.4(WDR19):c.1810G>C (p.Val604Leu) rs1245108212 0.00001
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys) rs780273002 0.00001
NM_025132.4(WDR19):c.1927G>T (p.Asp643Tyr) rs767757561 0.00001
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile) rs746795141 0.00001
NM_025132.4(WDR19):c.1993G>C (p.Ala665Pro) rs753976268 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.2192A>G (p.Asn731Ser) rs777105752 0.00001
NM_025132.4(WDR19):c.2194G>A (p.Asp732Asn) rs765614115 0.00001
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp) rs1170632040 0.00001
NM_025132.4(WDR19):c.2272C>A (p.His758Asn) rs577133819 0.00001
NM_025132.4(WDR19):c.2332T>A (p.Ser778Thr) rs545547031 0.00001
NM_025132.4(WDR19):c.2521G>A (p.Val841Ile) rs1349223638 0.00001
NM_025132.4(WDR19):c.2562+4C>G rs1732285598 0.00001
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val) rs746141233 0.00001
NM_025132.4(WDR19):c.2669C>G (p.Pro890Arg) rs1231847370 0.00001
NM_025132.4(WDR19):c.269G>A (p.Ser90Asn) rs761275061 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.277G>C (p.Asp93His) rs1725959489 0.00001
NM_025132.4(WDR19):c.2894G>T (p.Gly965Val) rs778314721 0.00001
NM_025132.4(WDR19):c.2908G>A (p.Ala970Thr) rs1733506402 0.00001
NM_025132.4(WDR19):c.2933A>G (p.Lys978Arg) rs1733508675 0.00001
NM_025132.4(WDR19):c.2948C>T (p.Ala983Val) rs1293022423 0.00001
NM_025132.4(WDR19):c.2T>C (p.Met1Thr) rs1021076498 0.00001
NM_025132.4(WDR19):c.3001+3A>G rs986476372 0.00001
NM_025132.4(WDR19):c.3001+6T>C rs912115085 0.00001
NM_025132.4(WDR19):c.3013A>T (p.Thr1005Ser) rs757632232 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser) rs759424617 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.3188G>T (p.Gly1063Val) rs760222006 0.00001
NM_025132.4(WDR19):c.3253A>C (p.Met1085Leu) rs1331013833 0.00001
NM_025132.4(WDR19):c.3358+3A>G rs1263454874 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.3397T>C (p.Tyr1133His) rs1187864679 0.00001
NM_025132.4(WDR19):c.3443C>T (p.Ala1148Val) rs1235824066 0.00001
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro) rs774806370 0.00001
NM_025132.4(WDR19):c.3491T>A (p.Val1164Asp) rs748465735 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.3808T>A (p.Cys1270Ser) rs1035768119 0.00001
NM_025132.4(WDR19):c.3833T>C (p.Ile1278Thr) rs1250445688 0.00001
NM_025132.4(WDR19):c.3847C>T (p.His1283Tyr) rs1187043579 0.00001
NM_025132.4(WDR19):c.3875G>T (p.Cys1292Phe) rs796543493 0.00001
NM_025132.4(WDR19):c.3964A>C (p.Asn1322His) rs1158060361 0.00001
NM_025132.4(WDR19):c.3966C>A (p.Asn1322Lys) rs767906377 0.00001
NM_025132.4(WDR19):c.3993C>G (p.Asp1331Glu) rs778745769 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.43G>A (p.Ala15Thr) rs865806299 0.00001
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925 0.00001
NM_025132.4(WDR19):c.6+3A>G rs1415721879 0.00001
NM_025132.4(WDR19):c.603+3A>G rs1727609864 0.00001
NM_025132.4(WDR19):c.621C>T (p.Gly207=) rs1330119254 0.00001
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala) rs757241775 0.00001
NM_025132.4(WDR19):c.667G>A (p.Ala223Thr) rs1371153516 0.00001
NM_025132.4(WDR19):c.710A>G (p.Tyr237Cys) rs755629699 0.00001
NM_025132.4(WDR19):c.716+12A>G rs779700299 0.00001
NM_025132.4(WDR19):c.802A>T (p.Ile268Leu) rs372022021 0.00001
NM_025132.4(WDR19):c.8G>A (p.Arg3His) rs922584346 0.00001
NM_025132.4(WDR19):c.906C>G (p.Asp302Glu) rs763697118 0.00001
NM_025132.4(WDR19):c.931G>A (p.Val311Ile) rs1300934052 0.00001
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys) rs1729012449 0.00001
NM_052844.4(DYNC2I2):c.1000G>A (p.Glu334Lys) rs772983607 0.00001
NM_052844.4(DYNC2I2):c.1006G>A (p.Gly336Ser) rs771610840 0.00001
NM_052844.4(DYNC2I2):c.1013C>T (p.Thr338Met) rs1453406506 0.00001
NM_052844.4(DYNC2I2):c.1154A>G (p.Gln385Arg) rs766809441 0.00001
NM_052844.4(DYNC2I2):c.1196G>A (p.Ser399Asn) rs777148395 0.00001
NM_052844.4(DYNC2I2):c.1202C>T (p.Ser401Phe) rs763634588 0.00001
NM_052844.4(DYNC2I2):c.1219C>G (p.Leu407Val) rs1269390021 0.00001
NM_052844.4(DYNC2I2):c.1424T>C (p.Leu475Ser) rs748451019 0.00001
NM_052844.4(DYNC2I2):c.1481A>G (p.Gln494Arg) rs776473267 0.00001
NM_052844.4(DYNC2I2):c.1562C>T (p.Pro521Leu) rs1860237724 0.00001
NM_052844.4(DYNC2I2):c.1600G>A (p.Val534Met) rs1172178384 0.00001
NM_052844.4(DYNC2I2):c.266C>T (p.Thr89Met) rs763370150 0.00001
NM_052844.4(DYNC2I2):c.325G>A (p.Ala109Thr) rs773435636 0.00001
NM_052844.4(DYNC2I2):c.40G>A (p.Gly14Arg) rs778409061 0.00001
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074 0.00001
NM_052844.4(DYNC2I2):c.59C>T (p.Ala20Val) rs1377064833 0.00001
NM_052844.4(DYNC2I2):c.700G>A (p.Ala234Thr) rs762438684 0.00001
NM_052844.4(DYNC2I2):c.842G>A (p.Ser281Asn) rs746568024 0.00001
NM_052844.4(DYNC2I2):c.886C>G (p.Leu296Val) rs754164153 0.00001
NM_052844.4(DYNC2I2):c.8C>T (p.Thr3Ile) rs759289615 0.00001
NM_147127.5(EVC2):c.1006-12A>G rs1205381388 0.00001
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser) rs769781725 0.00001
NM_147127.5(EVC2):c.11C>T (p.Ser4Leu) rs1468421367 0.00001
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr) rs1459733035 0.00001
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val) rs774347118 0.00001
NM_147127.5(EVC2):c.1502C>T (p.Thr501Ile) rs1209098952 0.00001
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly) rs766349604 0.00001
NM_147127.5(EVC2):c.1711-6T>A rs780082286 0.00001
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn) rs757316188 0.00001
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys) rs1222356750 0.00001
NM_147127.5(EVC2):c.1852G>A (p.Ala618Thr) rs765933739 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.2023A>G (p.Arg675Gly) rs754390055 0.00001
NM_147127.5(EVC2):c.2075C>A (p.Ser692Tyr) rs1318313186 0.00001
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp) rs532778814 0.00001
NM_147127.5(EVC2):c.2404G>C (p.Gly802Arg) rs577020845 0.00001
NM_147127.5(EVC2):c.2424G>C (p.Gln808His) rs541956407 0.00001
NM_147127.5(EVC2):c.2706+5G>T rs747272944 0.00001
NM_147127.5(EVC2):c.2707-3C>T rs755042717 0.00001
NM_147127.5(EVC2):c.283+18T>G rs894951363 0.00001
NM_147127.5(EVC2):c.2876A>T (p.Gln959Leu) rs1228531350 0.00001
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser) rs753942333 0.00001
NM_147127.5(EVC2):c.295C>T (p.Leu99Phe) rs897972159 0.00001
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys) rs779884599 0.00001
NM_147127.5(EVC2):c.3499G>A (p.Val1167Met) rs775202977 0.00001
NM_147127.5(EVC2):c.3508G>A (p.Ala1170Thr) rs748514374 0.00001
NM_147127.5(EVC2):c.3579A>C (p.Gln1193His) rs1346353134 0.00001
NM_147127.5(EVC2):c.3604G>A (p.Asp1202Asn) rs752599166 0.00001
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901 0.00001
NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro) rs746578489 0.00001
NM_147127.5(EVC2):c.551G>A (p.Arg184His) rs771841841 0.00001
NM_147127.5(EVC2):c.572A>C (p.Asn191Thr) rs754001550 0.00001
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908 0.00001
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg) rs771493745 0.00001
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln) rs745640537 0.00001
NM_153717.3(EVC):c.1283C>T (p.Ala428Val) rs1409088904 0.00001
NM_153717.3(EVC):c.1316-10T>A rs1730755993 0.00001
NM_153717.3(EVC):c.136C>T (p.Leu46Phe) rs1246844384 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1638G>T (p.Met546Ile) rs1225766769 0.00001
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr) rs926749491 0.00001
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp) rs1373148885 0.00001
NM_153717.3(EVC):c.1955G>A (p.Arg652His) rs765024763 0.00001
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys) rs367968708 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser) rs1395596111 0.00001
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln) rs930402783 0.00001
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749 0.00001
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser) rs771505230 0.00001
NM_153717.3(EVC):c.27G>C (p.Lys9Asn) rs1474600088 0.00001
NM_153717.3(EVC):c.340G>A (p.Ala114Thr) rs756208272 0.00001
NM_153717.3(EVC):c.49G>A (p.Gly17Arg) rs1722991667 0.00001
NM_153717.3(EVC):c.568C>T (p.Arg190Cys) rs1286815295 0.00001
NM_153717.3(EVC):c.853A>G (p.Met285Val) rs1464387798 0.00001
NM_153717.3(EVC):c.86C>T (p.Ala29Val) rs1314509668 0.00001
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys) rs1252316234 0.00001
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508 0.00001
NC_000002.11:g.(?_166731265)_(166758440_?)dup
NC_000002.11:g.(?_166746969)_(166810215_?)dup
NC_000002.11:g.(?_27667299)_(27677547_?)dup
NC_000002.11:g.(?_27670372)_(27670799_?)dup
NC_000002.11:g.(?_27688258)_(27688405_?)del
NC_000002.11:g.(?_27712462)_(27726506_?)dup
NC_000003.11:g.(?_159976313)_(159976443_?)dup
NC_000003.11:g.(?_159976313)_(160075386_?)dup
NC_000003.11:g.(?_159976313)_(160102388_?)dup
NC_000003.11:g.(?_160000246)_(160003676_?)del
NC_000003.11:g.(?_160075257)_(160075386_?)del
NC_000004.11:g.(?_169799043)_(170523781_?)dup
NC_000004.11:g.(?_170482611)_(170523781_?)dup
NC_000004.11:g.(?_39184178)_(39259194_?)dup
NC_000004.11:g.(?_39226484)_(39226673_?)del
NC_000004.11:g.(?_39245868)_(39259174_?)del
NC_000004.11:g.(?_5720955)_(5721120_?)del
NC_000007.13:g.(?_158649427)_(158738470_?)dup
NC_000007.13:g.(?_158662526)_(158727260_?)dup
NC_000007.13:g.(?_158662526)_(158738470_?)dup
NC_000007.13:g.(?_158672355)_(158672700_?)del
NC_000007.13:g.(?_158711411)_(158738470_?)dup
NC_000007.13:g.(?_158734596)_(158738470_?)dup
NC_000007.14:g.(?_158926167)_(158927063_?)del
NC_000009.11:g.(?_131379899)_(131403238_?)dup
NC_000009.11:g.(?_131386587)_(131399326_?)dup
NC_000009.11:g.(?_131402950)_(131403238_?)del
NC_000009.11:g.(?_131418800)_(131419005_?)dup
NC_000011.10:g.(?_103282179)_(103282229_?)del
NC_000011.10:g.(?_103479075)_(103479273_?)dup
NC_000011.9:g.(?_102980304)_(103194738_?)dup
NC_000011.9:g.(?_102980304)_(103349981_?)dup
NC_000011.9:g.(?_103228951)_(103229107_?)del
NC_000011.9:g.(?_103325894)_(103349981_?)dup
NC_000011.9:g.(?_103349803)_(103349981_?)dup
NC_000014.8:g.(?_58894347)_(58894375_?)del
NC_000014.8:g.(?_58894347)_(58899195_?)dup
NC_000014.8:g.(?_58894347)_(59014694_?)dup
NC_000014.8:g.(?_58910652)_(58910913_?)del
NC_000014.8:g.(?_59010581)_(59014694_?)dup
NC_000016.10:g.(?_1485939)_(1511150_?)del
NC_000016.9:g.(?_1496632)_(1561171_?)dup
NC_000016.9:g.(?_1607916)_(1618355_?)dup
NC_000016.9:g.(?_1639586)_(1642609_?)del
NC_000016.9:g.(?_256302)_(4852572_?)dup
NM_001006657.2(WDR35):c.1227G>A (p.Thr409=)
NM_001080463.2(DYNC2H1):c.9820A>T (p.Ile3274Phe)
NM_001080463.2(DYNC2H1):c.9838T>C (p.Trp3280Arg) rs2135218261
NM_001199397.3(NEK1):c.1020+4T>C
NM_001199397.3(NEK1):c.1066A>T (p.Arg356Trp)
NM_001199397.3(NEK1):c.1075T>A (p.Ser359Thr)
NM_001199397.3(NEK1):c.1080+3A>G
NM_001199397.3(NEK1):c.1126A>G (p.Lys376Glu)
NM_001199397.3(NEK1):c.1140+3A>C
NM_001199397.3(NEK1):c.1142T>A (p.Ile381Asn)
NM_001199397.3(NEK1):c.1187A>G (p.Glu396Gly)
NM_001199397.3(NEK1):c.1191+5G>A
NM_001199397.3(NEK1):c.120G>A (p.Met40Ile)
NM_001199397.3(NEK1):c.1243G>A (p.Ala415Thr)
NM_001199397.3(NEK1):c.1249G>A (p.Gly417Arg)
NM_001199397.3(NEK1):c.1267-11T>G
NM_001199397.3(NEK1):c.1287A>G (p.Gly429=)
NM_001199397.3(NEK1):c.1294A>G (p.Ile432Val)
NM_001199397.3(NEK1):c.1301C>A (p.Pro434Gln)
NM_001199397.3(NEK1):c.1319G>A (p.Arg440Gln)
NM_001199397.3(NEK1):c.1352A>G (p.Asp451Gly)
NM_001199397.3(NEK1):c.1412G>A (p.Gly471Asp) rs1418453971
NM_001199397.3(NEK1):c.1429A>G (p.Arg477Gly)
NM_001199397.3(NEK1):c.1430+19_1430+20delinsAG
NM_001199397.3(NEK1):c.1438C>G (p.Leu480Val)
NM_001199397.3(NEK1):c.1450C>T (p.Arg484Cys)
NM_001199397.3(NEK1):c.1451G>A (p.Arg484His) rs201793759
NM_001199397.3(NEK1):c.1463C>T (p.Pro488Leu)
NM_001199397.3(NEK1):c.1469G>A (p.Gly490Glu)
NM_001199397.3(NEK1):c.1478G>A (p.Gly493Asp)
NM_001199397.3(NEK1):c.1509T>G (p.Ile503Met)
NM_001199397.3(NEK1):c.1520T>C (p.Leu507Ser)
NM_001199397.3(NEK1):c.1553A>C (p.Asn518Thr)
NM_001199397.3(NEK1):c.1553A>G (p.Asn518Ser)
NM_001199397.3(NEK1):c.1562+20T>G rs2149908317
NM_001199397.3(NEK1):c.1573C>A (p.Gln525Lys)
NM_001199397.3(NEK1):c.1633A>T (p.Met545Leu) rs1369670600
NM_001199397.3(NEK1):c.1634T>C (p.Met545Thr)
NM_001199397.3(NEK1):c.1634T>G (p.Met545Arg)
NM_001199397.3(NEK1):c.1639A>G (p.Asn547Asp)
NM_001199397.3(NEK1):c.1649G>A (p.Arg550Gln) rs767374907
NM_001199397.3(NEK1):c.1753T>C (p.Tyr585His)
NM_001199397.3(NEK1):c.1787A>G (p.Asn596Ser)
NM_001199397.3(NEK1):c.1798C>T (p.Arg600Cys)
NM_001199397.3(NEK1):c.1816A>G (p.Lys606Glu)
NM_001199397.3(NEK1):c.1829_1830delinsGG (p.Glu610Gly)
NM_001199397.3(NEK1):c.1834-11T>A
NM_001199397.3(NEK1):c.1843A>G (p.Asn615Asp)
NM_001199397.3(NEK1):c.1888C>T (p.Arg630Cys)
NM_001199397.3(NEK1):c.1889G>A (p.Arg630His)
NM_001199397.3(NEK1):c.1900G>A (p.Glu634Lys)
NM_001199397.3(NEK1):c.1911+3A>G
NM_001199397.3(NEK1):c.1911+6G>C
NM_001199397.3(NEK1):c.1911G>A (p.Lys637=)
NM_001199397.3(NEK1):c.1916A>C (p.His639Pro) rs1295340811
NM_001199397.3(NEK1):c.1942_1944delinsGGG (p.Lys648Gly)
NM_001199397.3(NEK1):c.1948C>A (p.Gln650Lys) rs1753405258
NM_001199397.3(NEK1):c.194A>G (p.Gln65Arg) rs1770585618
NM_001199397.3(NEK1):c.1952T>G (p.Leu651Arg)
NM_001199397.3(NEK1):c.1958G>A (p.Arg653Gln)
NM_001199397.3(NEK1):c.1967AGG[1] (p.Glu657del)
NM_001199397.3(NEK1):c.2042C>T (p.Ser681Phe)
NM_001199397.3(NEK1):c.2060A>G (p.His687Arg)
NM_001199397.3(NEK1):c.2125A>G (p.Lys709Glu)
NM_001199397.3(NEK1):c.2126A>G (p.Lys709Arg)
NM_001199397.3(NEK1):c.2137G>T (p.Val713Leu) rs199827465
NM_001199397.3(NEK1):c.2146A>G (p.Ser716Gly)
NM_001199397.3(NEK1):c.2161C>G (p.Arg721Gly) rs201726561
NM_001199397.3(NEK1):c.2194A>G (p.Asn732Asp)
NM_001199397.3(NEK1):c.2200A>G (p.Ile734Val)
NM_001199397.3(NEK1):c.2213G>A (p.Arg738Gln)
NM_001199397.3(NEK1):c.2243T>G (p.Leu748Arg)
NM_001199397.3(NEK1):c.2310A>C (p.Glu770Asp)
NM_001199397.3(NEK1):c.2323C>T (p.His775Tyr)
NM_001199397.3(NEK1):c.2344T>G (p.Ser782Ala)
NM_001199397.3(NEK1):c.2354G>A (p.Arg785His)
NM_001199397.3(NEK1):c.2371G>A (p.Gly791Arg)
NM_001199397.3(NEK1):c.238A>G (p.Met80Val) rs1770058884
NM_001199397.3(NEK1):c.2390C>T (p.Pro797Leu)
NM_001199397.3(NEK1):c.2435-3T>C
NM_001199397.3(NEK1):c.2438A>G (p.His813Arg)
NM_001199397.3(NEK1):c.244T>A (p.Tyr82Asn) rs1017114230
NM_001199397.3(NEK1):c.2489C>T (p.Ala830Val)
NM_001199397.3(NEK1):c.257G>A (p.Gly86Glu)
NM_001199397.3(NEK1):c.2587+3A>G
NM_001199397.3(NEK1):c.2588-4A>C
NM_001199397.3(NEK1):c.2599G>A (p.Glu867Lys)
NM_001199397.3(NEK1):c.2693T>C (p.Val898Ala)
NM_001199397.3(NEK1):c.2699C>A (p.Thr900Lys)
NM_001199397.3(NEK1):c.2715C>G (p.Phe905Leu) rs2149425544
NM_001199397.3(NEK1):c.2725T>A (p.Ser909Thr)
NM_001199397.3(NEK1):c.2736G>A (p.Met912Ile)
NM_001199397.3(NEK1):c.2771A>G (p.Asp924Gly)
NM_001199397.3(NEK1):c.2797G>A (p.Glu933Lys) rs1482298810
NM_001199397.3(NEK1):c.2825G>A (p.Ser942Asn) rs2149410432
NM_001199397.3(NEK1):c.2894A>T (p.Asp965Val) rs2111355616
NM_001199397.3(NEK1):c.2939C>T (p.Ser980Leu)
NM_001199397.3(NEK1):c.2974+5G>A
NM_001199397.3(NEK1):c.3072G>C (p.Leu1024Phe)
NM_001199397.3(NEK1):c.3086A>G (p.Gln1029Arg)
NM_001199397.3(NEK1):c.3092A>G (p.Gln1031Arg)
NM_001199397.3(NEK1):c.309T>A (p.Asp103Glu)
NM_001199397.3(NEK1):c.3102G>T (p.Gln1034His)
NM_001199397.3(NEK1):c.3121T>C (p.Phe1041Leu)
NM_001199397.3(NEK1):c.3154A>G (p.Lys1052Glu)
NM_001199397.3(NEK1):c.3275T>C (p.Met1092Thr) rs1286963475
NM_001199397.3(NEK1):c.3283C>G (p.Pro1095Ala)
NM_001199397.3(NEK1):c.3302G>A (p.Arg1101His)
NM_001199397.3(NEK1):c.3311A>G (p.Asn1104Ser)
NM_001199397.3(NEK1):c.3335A>C (p.Asp1112Ala)
NM_001199397.3(NEK1):c.3335A>G (p.Asp1112Gly)
NM_001199397.3(NEK1):c.3343A>C (p.Ile1115Leu)
NM_001199397.3(NEK1):c.3374+5G>A rs1167084363
NM_001199397.3(NEK1):c.3395C>T (p.Thr1132Ile)
NM_001199397.3(NEK1):c.344C>T (p.Ala115Val) rs1581011769
NM_001199397.3(NEK1):c.3465AGA[2] (p.Glu1158del)
NM_001199397.3(NEK1):c.3542A>G (p.Asn1181Ser) rs766289659
NM_001199397.3(NEK1):c.3568G>A (p.Glu1190Lys)
NM_001199397.3(NEK1):c.3584A>T (p.Asp1195Val)
NM_001199397.3(NEK1):c.3595G>A (p.Gly1199Ser)
NM_001199397.3(NEK1):c.3607A>T (p.Ser1203Cys)
NM_001199397.3(NEK1):c.3710T>C (p.Ile1237Thr)
NM_001199397.3(NEK1):c.3715-7G>A
NM_001199397.3(NEK1):c.3727G>A (p.Asp1243Asn)
NM_001199397.3(NEK1):c.3727G>T (p.Asp1243Tyr)
NM_001199397.3(NEK1):c.3770A>G (p.Asn1257Ser)
NM_001199397.3(NEK1):c.3772A>G (p.Ile1258Val)
NM_001199397.3(NEK1):c.3783T>G (p.Asn1261Lys)
NM_001199397.3(NEK1):c.3794A>G (p.His1265Arg)
NM_001199397.3(NEK1):c.3806A>T (p.Lys1269Met)
NM_001199397.3(NEK1):c.3850A>G (p.Asn1284Asp)
NM_001199397.3(NEK1):c.465T>C (p.Ser155=) rs1234437874
NM_001199397.3(NEK1):c.482G>A (p.Arg161Gln)
NM_001199397.3(NEK1):c.488G>C (p.Cys163Ser)
NM_001199397.3(NEK1):c.490A>G (p.Ile164Val)
NM_001199397.3(NEK1):c.52G>A (p.Ala18Thr)
NM_001199397.3(NEK1):c.535C>G (p.Pro179Ala)
NM_001199397.3(NEK1):c.58C>T (p.Leu20Phe) rs2150141098
NM_001199397.3(NEK1):c.593C>A (p.Thr198Lys)
NM_001199397.3(NEK1):c.604G>T (p.Ala202Ser) rs780091818
NM_001199397.3(NEK1):c.644T>G (p.Ile215Arg)
NM_001199397.3(NEK1):c.676C>T (p.His226Tyr)
NM_001199397.3(NEK1):c.67T>C (p.Ser23Pro)
NM_001199397.3(NEK1):c.694C>T (p.Arg232Cys)
NM_001199397.3(NEK1):c.715T>G (p.Phe239Val) rs2150071108
NM_001199397.3(NEK1):c.77A>G (p.Asp26Gly)
NM_001199397.3(NEK1):c.782G>T (p.Arg261Leu)
NM_001199397.3(NEK1):c.842C>T (p.Ser281Leu)
NM_001199397.3(NEK1):c.887G>A (p.Gly296Glu)
NM_001199397.3(NEK1):c.8A>G (p.Lys3Arg) rs2150141268
NM_001199397.3(NEK1):c.904G>C (p.Val302Leu)
NM_001199397.3(NEK1):c.953C>T (p.Pro318Leu)
NM_001244189.2(KIAA0586):c.9+4A>C rs1029046238
NM_001244189.2(KIAA0586):c.9+5G>C
NM_001329943.3(KIAA0586):c.*3G>A rs748083468
NM_001329943.3(KIAA0586):c.-20C>T
NM_001329943.3(KIAA0586):c.-28G>A
NM_001329943.3(KIAA0586):c.-2A>G
NM_001329943.3(KIAA0586):c.-33C>G rs1246692312
NM_001329943.3(KIAA0586):c.-4C>G
NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile) rs186659284
NM_001329943.3(KIAA0586):c.1030C>T (p.Arg344Cys)
NM_001329943.3(KIAA0586):c.1088T>C (p.Leu363Pro)
NM_001329943.3(KIAA0586):c.1096G>A (p.Glu366Lys)
NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln)
NM_001329943.3(KIAA0586):c.1129+6A>C
NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu)
NM_001329943.3(KIAA0586):c.1133A>G (p.Asn378Ser)
NM_001329943.3(KIAA0586):c.1133A>T (p.Asn378Ile)
NM_001329943.3(KIAA0586):c.1152A>C (p.Gln384His) rs963677243
NM_001329943.3(KIAA0586):c.1163A>G (p.Asn388Ser)
NM_001329943.3(KIAA0586):c.1172C>G (p.Ser391Cys) rs2039563292
NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp) rs190089844
NM_001329943.3(KIAA0586):c.1182A>C (p.Arg394Ser)
NM_001329943.3(KIAA0586):c.1187G>A (p.Ser396Asn) rs1349839476
NM_001329943.3(KIAA0586):c.1189G>A (p.Glu397Lys)
NM_001329943.3(KIAA0586):c.1196C>T (p.Ser399Leu) rs2140763302
NM_001329943.3(KIAA0586):c.1225A>G (p.Ile409Val)
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) rs548318176
NM_001329943.3(KIAA0586):c.1254-19A>T rs2140825179
NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr)
NM_001329943.3(KIAA0586):c.1273C>G (p.Leu425Val)
NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile)
NM_001329943.3(KIAA0586):c.1369G>C (p.Glu457Gln) rs2140843404
NM_001329943.3(KIAA0586):c.1373C>A (p.Ser458Tyr)
NM_001329943.3(KIAA0586):c.1405C>A (p.Gln469Lys) rs1323358756
NM_001329943.3(KIAA0586):c.1409A>G (p.Asn470Ser) rs1245858530
NM_001329943.3(KIAA0586):c.1424A>T (p.Gln475Leu)
NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe) rs761150154
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=)
NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe) rs369211190
NM_001329943.3(KIAA0586):c.1447G>A (p.Val483Ile)
NM_001329943.3(KIAA0586):c.1459G>T (p.Ala487Ser)
NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg) rs2040004897
NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser)
NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe)
NM_001329943.3(KIAA0586):c.1508A>G (p.Glu503Gly)
NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys)
NM_001329943.3(KIAA0586):c.1513C>G (p.Leu505Val)
NM_001329943.3(KIAA0586):c.1538A>G (p.Asp513Gly)
NM_001329943.3(KIAA0586):c.1573T>C (p.Ser525Pro)
NM_001329943.3(KIAA0586):c.1576A>T (p.Thr526Ser)
NM_001329943.3(KIAA0586):c.1631T>G (p.Ile544Ser) rs2140854100
NM_001329943.3(KIAA0586):c.1651A>G (p.Ile551Val)
NM_001329943.3(KIAA0586):c.1667C>T (p.Ser556Leu)
NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu)
NM_001329943.3(KIAA0586):c.1745T>G (p.Ile582Ser)
NM_001329943.3(KIAA0586):c.1775A>G (p.Asn592Ser) rs2140874422
NM_001329943.3(KIAA0586):c.1799A>C (p.His600Pro)
NM_001329943.3(KIAA0586):c.1799A>G (p.His600Arg) rs780461594
NM_001329943.3(KIAA0586):c.1810C>G (p.Gln604Glu)
NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala)
NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)
NM_001329943.3(KIAA0586):c.1870A>G (p.Lys624Glu)
NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu) rs940229482
NM_001329943.3(KIAA0586):c.1903A>G (p.Thr635Ala)
NM_001329943.3(KIAA0586):c.1916A>G (p.Asp639Gly) rs1210187670
NM_001329943.3(KIAA0586):c.1932A>T (p.Leu644Phe) rs2140886222
NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro) rs1473572852
NM_001329943.3(KIAA0586):c.1964A>G (p.His655Arg) rs769913250
NM_001329943.3(KIAA0586):c.1999T>C (p.Phe667Leu)
NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser) rs2140375856
NM_001329943.3(KIAA0586):c.2002A>T (p.Asn668Tyr)
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)
NM_001329943.3(KIAA0586):c.2017A>G (p.Lys673Glu)
NM_001329943.3(KIAA0586):c.2024G>A (p.Arg675Lys)
NM_001329943.3(KIAA0586):c.2041G>C (p.Val681Leu)
NM_001329943.3(KIAA0586):c.2044A>T (p.Ile682Leu) rs751924115
NM_001329943.3(KIAA0586):c.2059G>T (p.Gly687Cys)
NM_001329943.3(KIAA0586):c.2060G>T (p.Gly687Val)
NM_001329943.3(KIAA0586):c.2062A>G (p.Thr688Ala) rs2140939104
NM_001329943.3(KIAA0586):c.2063C>A (p.Thr688Asn) rs1868384082
NM_001329943.3(KIAA0586):c.2105C>T (p.Thr702Ile)
NM_001329943.3(KIAA0586):c.2131A>G (p.Met711Val)
NM_001329943.3(KIAA0586):c.213_270+11dup
NM_001329943.3(KIAA0586):c.2141C>G (p.Ser714Cys) rs2140939862
NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser)
NM_001329943.3(KIAA0586):c.2158C>T (p.His720Tyr) rs757373300
NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn)
NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn)
NM_001329943.3(KIAA0586):c.2164G>T (p.Asp722Tyr) rs750671663
NM_001329943.3(KIAA0586):c.2185C>T (p.Pro729Ser) rs2140940326
NM_001329943.3(KIAA0586):c.2203A>G (p.Thr735Ala) rs1489902309
NM_001329943.3(KIAA0586):c.2207T>A (p.Phe736Tyr)
NM_001329943.3(KIAA0586):c.2213G>T (p.Gly738Val)
NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val)
NM_001329943.3(KIAA0586):c.2255-3T>C rs2140956887
NM_001329943.3(KIAA0586):c.2260A>T (p.Thr754Ser)
NM_001329943.3(KIAA0586):c.2270A>G (p.Asn757Ser)
NM_001329943.3(KIAA0586):c.2320G>A (p.Val774Ile)
NM_001329943.3(KIAA0586):c.2324C>A (p.Thr775Asn) rs2140957750
NM_001329943.3(KIAA0586):c.2348C>T (p.Ser783Leu)
NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys)
NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser)
NM_001329943.3(KIAA0586):c.2388A>G (p.Ile796Met)
NM_001329943.3(KIAA0586):c.2411A>G (p.Glu804Gly) rs1302610013
NM_001329943.3(KIAA0586):c.2411A>T (p.Glu804Val) rs1302610013
NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu)
NM_001329943.3(KIAA0586):c.241C>G (p.Leu81Val) rs2140391234
NM_001329943.3(KIAA0586):c.2426C>T (p.Pro809Leu)
NM_001329943.3(KIAA0586):c.2435C>A (p.Thr812Asn)
NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met)
NM_001329943.3(KIAA0586):c.2449C>G (p.Pro817Ala)
NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val)
NM_001329943.3(KIAA0586):c.2462T>C (p.Ile821Thr) rs1320727649
NM_001329943.3(KIAA0586):c.2465A>G (p.Asp822Gly)
NM_001329943.3(KIAA0586):c.2469C>A (p.Ser823Arg)
NM_001329943.3(KIAA0586):c.2469_2483del (p.Ile824_Ser828del) rs750244824
NM_001329943.3(KIAA0586):c.2476A>C (p.Asn826His) rs763982126
NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp)
NM_001329943.3(KIAA0586):c.2480G>A (p.Ser827Asn)
NM_001329943.3(KIAA0586):c.2486C>A (p.Ala829Asp)
NM_001329943.3(KIAA0586):c.2486C>T (p.Ala829Val) rs200219991
NM_001329943.3(KIAA0586):c.2521G>A (p.Ala841Thr) rs2140987094
NM_001329943.3(KIAA0586):c.2525C>T (p.Ser842Phe) rs749680733
NM_001329943.3(KIAA0586):c.253C>T (p.Pro85Ser)
NM_001329943.3(KIAA0586):c.2553+6T>C
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=) rs1024217852
NM_001329943.3(KIAA0586):c.2553G>T (p.Lys851Asn)
NM_001329943.3(KIAA0586):c.2554-14A>G
NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser)
NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg) rs74055693
NM_001329943.3(KIAA0586):c.2617A>G (p.Ile873Val) rs2041278053
NM_001329943.3(KIAA0586):c.2622C>G (p.Ile874Met)
NM_001329943.3(KIAA0586):c.2624A>T (p.Asp875Val) rs868621645
NM_001329943.3(KIAA0586):c.2630T>C (p.Ile877Thr)
NM_001329943.3(KIAA0586):c.2634+10C>G
NM_001329943.3(KIAA0586):c.2634+5C>G
NM_001329943.3(KIAA0586):c.2650G>A (p.Asp884Asn)
NM_001329943.3(KIAA0586):c.2693G>A (p.Ser898Asn) rs760087214
NM_001329943.3(KIAA0586):c.269G>C (p.Ser90Thr) rs780403471
NM_001329943.3(KIAA0586):c.270+3A>G rs2140391500
NM_001329943.3(KIAA0586):c.270+7A>C
NM_001329943.3(KIAA0586):c.2708C>A (p.Ser903Tyr)
NM_001329943.3(KIAA0586):c.2717A>G (p.Tyr906Cys)
NM_001329943.3(KIAA0586):c.2723G>C (p.Gly908Ala) rs753434086
NM_001329943.3(KIAA0586):c.2729C>T (p.Pro910Leu)
NM_001329943.3(KIAA0586):c.272A>G (p.Asp91Gly)
NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala)
NM_001329943.3(KIAA0586):c.2756A>G (p.Gln919Arg) rs2141025129
NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala)
NM_001329943.3(KIAA0586):c.2786T>C (p.Ile929Thr)
NM_001329943.3(KIAA0586):c.2788_2802del (p.Glu930_Thr934del) rs2141025393
NM_001329943.3(KIAA0586):c.2822A>G (p.Gln941Arg)
NM_001329943.3(KIAA0586):c.2826-8C>A rs2141053167
NM_001329943.3(KIAA0586):c.2839A>G (p.Ile947Val)
NM_001329943.3(KIAA0586):c.2849G>T (p.Arg950Ile) rs2141053576
NM_001329943.3(KIAA0586):c.2860G>T (p.Gly954Trp)
NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr)
NM_001329943.3(KIAA0586):c.2890C>T (p.Pro964Ser)
NM_001329943.3(KIAA0586):c.2894G>T (p.Ser965Ile) rs1161690227
NM_001329943.3(KIAA0586):c.2924A>G (p.Glu975Gly) rs2141054763
NM_001329943.3(KIAA0586):c.2936C>T (p.Ser979Phe)
NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala)
NM_001329943.3(KIAA0586):c.2960G>A (p.Ser987Asn)
NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu)
NM_001329943.3(KIAA0586):c.2990G>T (p.Gly997Val)
NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys) rs2140372595
NM_001329943.3(KIAA0586):c.3037C>G (p.Leu1013Val)
NM_001329943.3(KIAA0586):c.3053C>A (p.Ala1018Asp) rs182274649
NM_001329943.3(KIAA0586):c.3058A>G (p.Met1020Val) rs767378597
NM_001329943.3(KIAA0586):c.3077C>T (p.Ala1026Val)
NM_001329943.3(KIAA0586):c.3089G>A (p.Gly1030Asp) rs2042116751
NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys) rs367811307
NM_001329943.3(KIAA0586):c.3144+3A>G rs956345090
NM_001329943.3(KIAA0586):c.3145-6_3145-2del
NM_001329943.3(KIAA0586):c.3149G>A (p.Arg1050Lys) rs1472123420
NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala)
NM_001329943.3(KIAA0586):c.3164T>C (p.Leu1055Pro) rs1453619075
NM_001329943.3(KIAA0586):c.3169_3171dup (p.Thr1057_Pro1058insThr)
NM_001329943.3(KIAA0586):c.3179C>G (p.Pro1060Arg)
NM_001329943.3(KIAA0586):c.3182C>T (p.Thr1061Met)
NM_001329943.3(KIAA0586):c.3185C>T (p.Pro1062Leu)
NM_001329943.3(KIAA0586):c.3190T>A (p.Cys1064Ser)
NM_001329943.3(KIAA0586):c.319G>A (p.Glu107Lys) rs2140404760
NM_001329943.3(KIAA0586):c.3206C>T (p.Pro1069Leu) rs2141182370
NM_001329943.3(KIAA0586):c.3226G>A (p.Val1076Ile)
NM_001329943.3(KIAA0586):c.3226G>T (p.Val1076Leu)
NM_001329943.3(KIAA0586):c.322G>A (p.Glu108Lys)
NM_001329943.3(KIAA0586):c.3232A>G (p.Thr1078Ala)
NM_001329943.3(KIAA0586):c.3238G>A (p.Asp1080Asn) rs2042507801
NM_001329943.3(KIAA0586):c.3250T>C (p.Cys1084Arg)
NM_001329943.3(KIAA0586):c.3266A>G (p.Asp1089Gly) rs187091758
NM_001329943.3(KIAA0586):c.3300A>T (p.Glu1100Asp)
NM_001329943.3(KIAA0586):c.3304+5A>C
NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg)
NM_001329943.3(KIAA0586):c.3305-3T>C
NM_001329943.3(KIAA0586):c.3307G>A (p.Asp1103Asn) rs2141192396
NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val)
NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr)
NM_001329943.3(KIAA0586):c.3338C>T (p.Thr1113Ile)
NM_001329943.3(KIAA0586):c.335A>G (p.Gln112Arg)
NM_001329943.3(KIAA0586):c.3362C>T (p.Thr1121Ile) rs2141193303
NM_001329943.3(KIAA0586):c.3366TCC[1] (p.Pro1124del) rs770153870
NM_001329943.3(KIAA0586):c.3371C>T (p.Pro1124Leu)
NM_001329943.3(KIAA0586):c.3373G>A (p.Ala1125Thr) rs2141193523
NM_001329943.3(KIAA0586):c.3394A>G (p.Thr1132Ala)
NM_001329943.3(KIAA0586):c.3399G>T (p.Leu1133Phe) rs1409454378
NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn)
NM_001329943.3(KIAA0586):c.3405T>G (p.Asp1135Glu)
NM_001329943.3(KIAA0586):c.3415_3416delinsTG (p.Asp1139Cys) rs2141194171
NM_001329943.3(KIAA0586):c.3418A>G (p.Lys1140Glu)
NM_001329943.3(KIAA0586):c.3427G>T (p.Val1143Leu)
NM_001329943.3(KIAA0586):c.3433A>T (p.Ser1145Cys)
NM_001329943.3(KIAA0586):c.3437C>T (p.Pro1146Leu) rs2042587558
NM_001329943.3(KIAA0586):c.344A>C (p.Asn115Thr)
NM_001329943.3(KIAA0586):c.3451C>A (p.Pro1151Thr) rs2141194729
NM_001329943.3(KIAA0586):c.3458G>T (p.Gly1153Val) rs2141194889
NM_001329943.3(KIAA0586):c.345T>A (p.Asn115Lys) rs778492541
NM_001329943.3(KIAA0586):c.3461A>T (p.Asp1154Val)
NM_001329943.3(KIAA0586):c.3479A>C (p.Glu1160Ala)
NM_001329943.3(KIAA0586):c.3490C>T (p.Pro1164Ser)
NM_001329943.3(KIAA0586):c.3500C>T (p.Pro1167Leu)
NM_001329943.3(KIAA0586):c.3505GAA[1] (p.Glu1170del) rs778377845
NM_001329943.3(KIAA0586):c.3510A>T (p.Glu1170Asp)
NM_001329943.3(KIAA0586):c.3518C>G (p.Pro1173Arg) rs2141195740
NM_001329943.3(KIAA0586):c.3544A>G (p.Lys1182Glu)
NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys)
NM_001329943.3(KIAA0586):c.3566T>C (p.Met1189Thr)
NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser)
NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser)
NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala)
NM_001329943.3(KIAA0586):c.3620C>T (p.Pro1207Leu) rs750251144
NM_001329943.3(KIAA0586):c.362A>T (p.Gln121Leu)
NM_001329943.3(KIAA0586):c.3631A>C (p.Lys1211Gln) rs754567597
NM_001329943.3(KIAA0586):c.3633G>C (p.Lys1211Asn) rs780785984
NM_001329943.3(KIAA0586):c.363G>T (p.Gln121His) rs368352741
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) rs746136288
NM_001329943.3(KIAA0586):c.3670T>G (p.Ser1224Ala) rs1292752792
NM_001329943.3(KIAA0586):c.3673A>G (p.Thr1225Ala)
NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser) rs183240083
NM_001329943.3(KIAA0586):c.3685A>C (p.Thr1229Pro)
NM_001329943.3(KIAA0586):c.368C>A (p.Thr123Lys) rs2140422825
NM_001329943.3(KIAA0586):c.3704C>T (p.Thr1235Ile)
NM_001329943.3(KIAA0586):c.370A>G (p.Met124Val) rs2037453984
NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile)
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) rs1595348112
NM_001329943.3(KIAA0586):c.374G>A (p.Gly125Glu)
NM_001329943.3(KIAA0586):c.3780G>A (p.Lys1260=)
NM_001329943.3(KIAA0586):c.3794T>C (p.Ile1265Thr) rs756960694
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) rs1425457941
NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala)
NM_001329943.3(KIAA0586):c.3820_3822del (p.Asp1274del) rs1399193101
NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly)
NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr) rs748648408
NM_001329943.3(KIAA0586):c.3843T>A (p.His1281Gln)
NM_001329943.3(KIAA0586):c.3850G>A (p.Val1284Ile)
NM_001329943.3(KIAA0586):c.3858+4A>G rs2042748796
NM_001329943.3(KIAA0586):c.3868_3869delinsGT (p.Pro1290Val)
NM_001329943.3(KIAA0586):c.3871C>T (p.Pro1291Ser)
NM_001329943.3(KIAA0586):c.3883C>G (p.Gln1295Glu) rs2141237535
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=) rs779179754
NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met)
NM_001329943.3(KIAA0586):c.3896T>C (p.Met1299Thr)
NM_001329943.3(KIAA0586):c.3917C>T (p.Ala1306Val) rs1369311999
NM_001329943.3(KIAA0586):c.3940A>C (p.Lys1314Gln) rs1270703288
NM_001329943.3(KIAA0586):c.3940A>G (p.Lys1314Glu)
NM_001329943.3(KIAA0586):c.3968A>G (p.Gln1323Arg)
NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=)
NM_001329943.3(KIAA0586):c.3997G>A (p.Glu1333Lys)
NM_001329943.3(KIAA0586):c.4001A>G (p.Asn1334Ser)
NM_001329943.3(KIAA0586):c.4028A>G (p.Gln1343Arg)
NM_001329943.3(KIAA0586):c.4033C>A (p.Pro1345Thr)
NM_001329943.3(KIAA0586):c.4048G>A (p.Ala1350Thr)
NM_001329943.3(KIAA0586):c.4049C>A (p.Ala1350Glu)
NM_001329943.3(KIAA0586):c.4054G>A (p.Glu1352Lys)
NM_001329943.3(KIAA0586):c.4073A>G (p.His1358Arg) rs1260148388
NM_001329943.3(KIAA0586):c.4089G>C (p.Gln1363His) rs2043350107
NM_001329943.3(KIAA0586):c.4096G>A (p.Val1366Ile) rs2043350903
NM_001329943.3(KIAA0586):c.410+3A>G
NM_001329943.3(KIAA0586):c.411-1364A>G
NM_001329943.3(KIAA0586):c.411-1381C>T rs749413114
NM_001329943.3(KIAA0586):c.411-1404G>A
NM_001329943.3(KIAA0586):c.411-1405T>C
NM_001329943.3(KIAA0586):c.411-1409C>T rs2140521828
NM_001329943.3(KIAA0586):c.411-1427A>G
NM_001329943.3(KIAA0586):c.411-1431C>G
NM_001329943.3(KIAA0586):c.411-1448G>A
NM_001329943.3(KIAA0586):c.411-1494C>A
NM_001329943.3(KIAA0586):c.4111T>A (p.Ser1371Thr)
NM_001329943.3(KIAA0586):c.4148G>A (p.Arg1383Gln)
NM_001329943.3(KIAA0586):c.4156G>T (p.Asp1386Tyr) rs2141310739
NM_001329943.3(KIAA0586):c.4168+5A>G
NM_001329943.3(KIAA0586):c.4168+6C>T
NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln)
NM_001329943.3(KIAA0586):c.421A>G (p.Met141Val) rs1164983892
NM_001329943.3(KIAA0586):c.4226A>G (p.Glu1409Gly) rs2141430559
NM_001329943.3(KIAA0586):c.4227G>T (p.Glu1409Asp) rs746899731
NM_001329943.3(KIAA0586):c.4231G>A (p.Glu1411Lys)
NM_001329943.3(KIAA0586):c.4241C>T (p.Ser1414Phe)
NM_001329943.3(KIAA0586):c.4249G>A (p.Val1417Ile) rs1356513118
NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly) rs548063080
NM_001329943.3(KIAA0586):c.4306G>A (p.Ala1436Thr)
NM_001329943.3(KIAA0586):c.4316T>C (p.Phe1439Ser) rs2141431422
NM_001329943.3(KIAA0586):c.4323+3A>G
NM_001329943.3(KIAA0586):c.4323+4C>T rs2044176022
NM_001329943.3(KIAA0586):c.4323+5C>G rs2141431529
NM_001329943.3(KIAA0586):c.4324-4T>G rs1429230924
NM_001329943.3(KIAA0586):c.4345G>T (p.Asp1449Tyr)
NM_001329943.3(KIAA0586):c.4346A>T (p.Asp1449Val) rs2141479700
NM_001329943.3(KIAA0586):c.4352A>G (p.Lys1451Arg)
NM_001329943.3(KIAA0586):c.4363_4364delinsAT (p.His1455Ile) rs2141479904
NM_001329943.3(KIAA0586):c.4365C>G (p.His1455Gln) rs1051498929
NM_001329943.3(KIAA0586):c.4399A>C (p.Lys1467Gln)
NM_001329943.3(KIAA0586):c.4429+4A>G rs1017273332
NM_001329943.3(KIAA0586):c.4435C>T (p.Pro1479Ser)
NM_001329943.3(KIAA0586):c.4444A>G (p.Met1482Val)
NM_001329943.3(KIAA0586):c.4446G>A (p.Met1482Ile)
NM_001329943.3(KIAA0586):c.444G>T (p.Lys148Asn)
NM_001329943.3(KIAA0586):c.4458A>T (p.Gln1486His) rs2140098041
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) rs370303493
NM_001329943.3(KIAA0586):c.4492T>A (p.Ser1498Thr)
NM_001329943.3(KIAA0586):c.4495+3762T>C
NM_001329943.3(KIAA0586):c.4495+3779A>G rs968172462
NM_001329943.3(KIAA0586):c.4495+3779A>T rs968172462
NM_001329943.3(KIAA0586):c.4495+3795_4495+3796inv
NM_001329943.3(KIAA0586):c.4495+3797T>C
NM_001329943.3(KIAA0586):c.4495+4A>G
NM_001329943.3(KIAA0586):c.4495+6A>G
NM_001329943.3(KIAA0586):c.4496-3814G>A rs2140128786
NM_001329943.3(KIAA0586):c.4496G>T (p.Gly1499Val)
NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)
NM_001329943.3(KIAA0586):c.4515C>G (p.Leu1505=) rs2140156234
NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=)
NM_001329943.3(KIAA0586):c.4524A>G (p.Ser1508=)
NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu)
NM_001329943.3(KIAA0586):c.4531C>A (p.Pro1511Thr) rs2140156359
NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)
NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu)
NM_001329943.3(KIAA0586):c.4564G>T (p.Val1522Leu) rs542432352
NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His) rs2140156856
NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter)
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=) rs2140157005
NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=)
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=) rs1301341396
NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs)
NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu)
NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)
NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu) rs1202184988
NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val)
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser)
NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu)
NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu) rs748340175
NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT
NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu)
NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly) rs2038635110
NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val)
NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln)
NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)
NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser) rs2140373651
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys) rs202124602
NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu) rs1373940232
NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr)
NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg)
NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln) rs774888789
NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met) rs2140567428
NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)
NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del) rs1290912165
NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His) rs2140568101
NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)
NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr) rs1417240682
NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys) rs2039078597
NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)
NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu) rs769369839
NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro)
NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr) rs2039080763
NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu)
NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn)
NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu) rs2140662489
NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)
NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys)
NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)
NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe)
NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly) rs2140663692
NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe) rs2140664162
NM_001329943.3(KIAA0586):c.961+6_961+7del rs1308763926
NM_001329943.3(KIAA0586):c.962-3A>C
NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile) rs1317366636
NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val) rs780810159
NM_001375405.1(CEP120):c.1034C>T (p.Ser345Phe) rs1772365923
NM_001375405.1(CEP120):c.1038+6T>C rs1064796555
NM_001375405.1(CEP120):c.1062G>C (p.Gln354His) rs775393475
NM_001375405.1(CEP120):c.106G>A (p.Gly36Arg)
NM_001375405.1(CEP120):c.1101A>C (p.Leu367Phe)
NM_001375405.1(CEP120):c.113A>T (p.Gln38Leu)
NM_001375405.1(CEP120):c.1151C>A (p.Ser384Tyr)
NM_001375405.1(CEP120):c.1190A>C (p.Asp397Ala)
NM_001375405.1(CEP120):c.1304A>G (p.Asn435Ser)
NM_001375405.1(CEP120):c.1318G>A (p.Ala440Thr)
NM_001375405.1(CEP120):c.1391A>T (p.His464Leu) rs776098623
NM_001375405.1(CEP120):c.1465A>C (p.Ile489Leu)
NM_001375405.1(CEP120):c.1477CCT[1] (p.Pro494del)
NM_001375405.1(CEP120):c.1492C>T (p.Arg498Trp)
NM_001375405.1(CEP120):c.151G>C (p.Glu51Gln)
NM_001375405.1(CEP120):c.1621A>G (p.Ser541Gly) rs1771927226
NM_001375405.1(CEP120):c.1681A>G (p.Lys561Glu)
NM_001375405.1(CEP120):c.1720C>T (p.Arg574Cys)
NM_001375405.1(CEP120):c.1741G>A (p.Val581Met)
NM_001375405.1(CEP120):c.1741G>C (p.Val581Leu)
NM_001375405.1(CEP120):c.1742T>C (p.Val581Ala)
NM_001375405.1(CEP120):c.1831C>G (p.Arg611Gly) rs150132498
NM_001375405.1(CEP120):c.1832G>A (p.Arg611His) rs758625645
NM_001375405.1(CEP120):c.1843A>C (p.Ile615Leu) rs753544415
NM_001375405.1(CEP120):c.1862G>T (p.Gly621Val)
NM_001375405.1(CEP120):c.1900C>G (p.Pro634Ala) rs748599073
NM_001375405.1(CEP120):c.1909_1910delinsGT (p.Cys637Val)
NM_001375405.1(CEP120):c.191C>T (p.Ala64Val)
NM_001375405.1(CEP120):c.1928C>G (p.Thr643Arg)
NM_001375405.1(CEP120):c.1937G>A (p.Arg646His)
NM_001375405.1(CEP120):c.1943C>T (p.Thr648Met)
NM_001375405.1(CEP120):c.1948G>C (p.Glu650Gln) rs1280274264
NM_001375405.1(CEP120):c.2175G>C (p.Gln725His)
NM_001375405.1(CEP120):c.2185G>A (p.Val729Met)
NM_001375405.1(CEP120):c.2196+5G>A
NM_001375405.1(CEP120):c.220C>A (p.Pro74Thr) rs1774369109
NM_001375405.1(CEP120):c.2226_2234del (p.Glu743_Gln745del)
NM_001375405.1(CEP120):c.2266C>T (p.Arg756Cys)
NM_001375405.1(CEP120):c.2283C>G (p.Asp761Glu) rs2127034566
NM_001375405.1(CEP120):c.2292C>G (p.His764Gln)
NM_001375405.1(CEP120):c.2301A>C (p.Glu767Asp)
NM_001375405.1(CEP120):c.2344C>T (p.Arg782Cys)
NM_001375405.1(CEP120):c.2345G>A (p.Arg782His) rs768733124
NM_001375405.1(CEP120):c.2418C>A (p.Asp806Glu) rs1770933357
NM_001375405.1(CEP120):c.2458A>G (p.Ile820Val)
NM_001375405.1(CEP120):c.2481+6C>T
NM_001375405.1(CEP120):c.2494A>G (p.Arg832Gly) rs2127002614
NM_001375405.1(CEP120):c.2548C>G (p.Arg850Gly) rs772596480
NM_001375405.1(CEP120):c.2580+4T>G
NM_001375405.1(CEP120):c.2605C>T (p.Arg869Cys)
NM_001375405.1(CEP120):c.2619G>C (p.Gln873His) rs963767744
NM_001375405.1(CEP120):c.2638A>C (p.Met880Leu) rs763397454
NM_001375405.1(CEP120):c.2648G>A (p.Arg883His)
NM_001375405.1(CEP120):c.2659G>A (p.Ala887Thr)
NM_001375405.1(CEP120):c.2707A>G (p.Ile903Val)
NM_001375405.1(CEP120):c.2753A>T (p.Tyr918Phe)
NM_001375405.1(CEP120):c.278G>A (p.Gly93Asp) rs1554106320
NM_001375405.1(CEP120):c.2824G>A (p.Asp942Asn)
NM_001375405.1(CEP120):c.2839C>T (p.Arg947Cys)
NM_001375405.1(CEP120):c.285C>G (p.Ile95Met) rs367752008
NM_001375405.1(CEP120):c.286G>A (p.Val96Ile)
NM_001375405.1(CEP120):c.325C>T (p.Pro109Ser)
NM_001375405.1(CEP120):c.368A>T (p.Lys123Met)
NM_001375405.1(CEP120):c.397G>C (p.Glu133Gln)
NM_001375405.1(CEP120):c.464-8C>G
NM_001375405.1(CEP120):c.469G>A (p.Ala157Thr) rs1379324177
NM_001375405.1(CEP120):c.52C>T (p.Arg18Trp) rs371099291
NM_001375405.1(CEP120):c.559A>C (p.Thr187Pro)
NM_001375405.1(CEP120):c.649C>T (p.Pro217Ser) rs1772538722
NM_001375405.1(CEP120):c.736G>A (p.Glu246Lys)
NM_001375405.1(CEP120):c.76C>T (p.His26Tyr)
NM_001375405.1(CEP120):c.772A>G (p.Ile258Val)
NM_001375405.1(CEP120):c.779G>T (p.Arg260Leu) rs189429890
NM_001375405.1(CEP120):c.797A>G (p.Gln266Arg)
NM_001375405.1(CEP120):c.842G>A (p.Gly281Glu)
NM_001375405.1(CEP120):c.896A>G (p.Asn299Ser)
NM_001375405.1(CEP120):c.94G>A (p.Ala32Thr)
NM_001375405.1(CEP120):c.991A>C (p.Thr331Pro)
NM_001377.3(DYNC2H1):c.1000G>A (p.Val334Ile) rs1273059968
NM_001377.3(DYNC2H1):c.10088A>G (p.Asn3363Ser)
NM_001377.3(DYNC2H1):c.10181CAA[1] (p.Thr3395del) rs572595399
NM_001377.3(DYNC2H1):c.10183A>G (p.Thr3395Ala) rs757061327
NM_001377.3(DYNC2H1):c.10184C>G (p.Thr3395Arg) rs778720641
NM_001377.3(DYNC2H1):c.10206+6C>T rs1591478542
NM_001377.3(DYNC2H1):c.10237C>G (p.Pro3413Ala) rs786204223
NM_001377.3(DYNC2H1):c.10252C>A (p.Gln3418Lys) rs543525711
NM_001377.3(DYNC2H1):c.10292T>C (p.Ile3431Thr) rs1325471732
NM_001377.3(DYNC2H1):c.10314A>T (p.Glu3438Asp)
NM_001377.3(DYNC2H1):c.10345G>A (p.Gly3449Ser)
NM_001377.3(DYNC2H1):c.10445A>G (p.Gln3482Arg)
NM_001377.3(DYNC2H1):c.10451C>G (p.Ser3484Cys)
NM_001377.3(DYNC2H1):c.10465C>T (p.Arg3489Trp)
NM_001377.3(DYNC2H1):c.10495_10496delinsTT (p.Ala3499Phe) rs2135267286
NM_001377.3(DYNC2H1):c.10549C>T (p.Arg3517Cys)
NM_001377.3(DYNC2H1):c.10600A>G (p.Lys3534Glu)
NM_001377.3(DYNC2H1):c.1066A>G (p.Ile356Val)
NM_001377.3(DYNC2H1):c.10684_10686del (p.Cys3562del) rs2135273195
NM_001377.3(DYNC2H1):c.10808A>C (p.Lys3603Thr)
NM_001377.3(DYNC2H1):c.10826A>G (p.Lys3609Arg)
NM_001377.3(DYNC2H1):c.10856A>C (p.Asp3619Ala) rs370414127
NM_001377.3(DYNC2H1):c.10865G>C (p.Arg3622Pro)
NM_001377.3(DYNC2H1):c.10910A>G (p.Tyr3637Cys)
NM_001377.3(DYNC2H1):c.10927G>A (p.Glu3643Lys)
NM_001377.3(DYNC2H1):c.10945C>A (p.Arg3649Ser) rs763800155
NM_001377.3(DYNC2H1):c.10990A>G (p.Ile3664Val) rs1866352347
NM_001377.3(DYNC2H1):c.1100G>A (p.Gly367Asp)
NM_001377.3(DYNC2H1):c.11312C>G (p.Ala3771Gly)
NM_001377.3(DYNC2H1):c.11315G>A (p.Arg3772His)
NM_001377.3(DYNC2H1):c.11348A>C (p.His3783Pro)
NM_001377.3(DYNC2H1):c.11383-5A>G rs1867360884
NM_001377.3(DYNC2H1):c.11411C>G (p.Thr3804Ser) rs779520771
NM_001377.3(DYNC2H1):c.11445C>T (p.Pro3815=)
NM_001377.3(DYNC2H1):c.11455C>G (p.Pro3819Ala)
NM_001377.3(DYNC2H1):c.11493G>A (p.Glu3831=) rs778529441
NM_001377.3(DYNC2H1):c.11520A>T (p.Leu3840Phe)
NM_001377.3(DYNC2H1):c.11524C>T (p.Arg3842Cys)
NM_001377.3(DYNC2H1):c.11551C>A (p.Gln3851Lys)
NM_001377.3(DYNC2H1):c.11576A>T (p.His3859Leu)
NM_001377.3(DYNC2H1):c.11581G>T (p.Ala3861Ser)
NM_001377.3(DYNC2H1):c.11635A>G (p.Asn3879Asp)
NM_001377.3(DYNC2H1):c.11689C>T (p.Arg3897Trp)
NM_001377.3(DYNC2H1):c.11728G>T (p.Ala3910Ser)
NM_001377.3(DYNC2H1):c.11731A>G (p.Lys3911Glu) rs2135437450
NM_001377.3(DYNC2H1):c.11786G>T (p.Gly3929Val)
NM_001377.3(DYNC2H1):c.11789G>A (p.Arg3930His)
NM_001377.3(DYNC2H1):c.11903C>G (p.Ser3968Cys) rs1335936507
NM_001377.3(DYNC2H1):c.1194A>T (p.Lys398Asn) rs2134714754
NM_001377.3(DYNC2H1):c.11959A>G (p.Ile3987Val) rs558493613
NM_001377.3(DYNC2H1):c.1197A>G (p.Ile399Met)
NM_001377.3(DYNC2H1):c.12023G>A (p.Arg4008His)
NM_001377.3(DYNC2H1):c.12109T>G (p.Ser4037Ala)
NM_001377.3(DYNC2H1):c.12131T>C (p.Leu4044Pro) rs1940457627
NM_001377.3(DYNC2H1):c.12172_12180del (p.His4058_Lys4060del) rs1591686031
NM_001377.3(DYNC2H1):c.12338A>G (p.Lys4113Arg) rs1420095948
NM_001377.3(DYNC2H1):c.12434T>C (p.Val4145Ala)
NM_001377.3(DYNC2H1):c.12470A>G (p.Lys4157Arg)
NM_001377.3(DYNC2H1):c.12482A>G (p.Gln4161Arg)
NM_001377.3(DYNC2H1):c.12484G>T (p.Ala4162Ser) rs866777192
NM_001377.3(DYNC2H1):c.12485C>T (p.Ala4162Val)
NM_001377.3(DYNC2H1):c.12530A>G (p.Asp4177Gly)
NM_001377.3(DYNC2H1):c.12556G>A (p.Glu4186Lys) rs764491760
NM_001377.3(DYNC2H1):c.12577C>T (p.Arg4193Cys)
NM_001377.3(DYNC2H1):c.12620G>A (p.Arg4207Gln)
NM_001377.3(DYNC2H1):c.12623T>G (p.Leu4208Arg)
NM_001377.3(DYNC2H1):c.12766G>C (p.Asp4256His) rs772516163
NM_001377.3(DYNC2H1):c.12790G>A (p.Asp4264Asn)
NM_001377.3(DYNC2H1):c.12836G>A (p.Arg4279His)
NM_001377.3(DYNC2H1):c.1322G>A (p.Arg441Lys) rs2134715900
NM_001377.3(DYNC2H1):c.1334T>C (p.Leu445Pro) rs2134715945
NM_001377.3(DYNC2H1):c.1397T>A (p.Ile466Asn)
NM_001377.3(DYNC2H1):c.1399C>T (p.Pro467Ser) rs1858702281
NM_001377.3(DYNC2H1):c.1454G>T (p.Ser485Ile) rs779488462
NM_001377.3(DYNC2H1):c.145A>T (p.Met49Leu)
NM_001377.3(DYNC2H1):c.1485+4T>C rs2134718326
NM_001377.3(DYNC2H1):c.1489G>A (p.Asp497Asn)
NM_001377.3(DYNC2H1):c.1504A>G (p.Ile502Val)
NM_001377.3(DYNC2H1):c.1614G>C (p.Trp538Cys)
NM_001377.3(DYNC2H1):c.1631C>T (p.Ser544Leu) rs1858796228
NM_001377.3(DYNC2H1):c.1664T>G (p.Ile555Ser) rs1858922505
NM_001377.3(DYNC2H1):c.1681A>G (p.Ile561Val)
NM_001377.3(DYNC2H1):c.1705G>C (p.Gly569Arg)
NM_001377.3(DYNC2H1):c.173C>G (p.Ala58Gly)
NM_001377.3(DYNC2H1):c.1755A>G (p.Glu585=)
NM_001377.3(DYNC2H1):c.1769C>T (p.Ser590Phe) rs1269262525
NM_001377.3(DYNC2H1):c.1844T>C (p.Ile615Thr) rs2134734586
NM_001377.3(DYNC2H1):c.1868T>C (p.Phe623Ser) rs2134749282
NM_001377.3(DYNC2H1):c.1879A>G (p.Ile627Val)
NM_001377.3(DYNC2H1):c.192C>G (p.Asn64Lys)
NM_001377.3(DYNC2H1):c.195+5G>A rs774148120
NM_001377.3(DYNC2H1):c.1A>G (p.Met1Val)
NM_001377.3(DYNC2H1):c.2050C>T (p.Arg684Trp)
NM_001377.3(DYNC2H1):c.2107G>T (p.Val703Leu)
NM_001377.3(DYNC2H1):c.2149C>A (p.Arg717Ser) rs576204512
NM_001377.3(DYNC2H1):c.2150G>A (p.Arg717His)
NM_001377.3(DYNC2H1):c.216A>C (p.Lys72Asn)
NM_001377.3(DYNC2H1):c.2206-4T>G
NM_001377.3(DYNC2H1):c.2420T>C (p.Ile807Thr)
NM_001377.3(DYNC2H1):c.2423G>A (p.Gly808Asp)
NM_001377.3(DYNC2H1):c.2512A>G (p.Thr838Ala)
NM_001377.3(DYNC2H1):c.2533G>C (p.Asp845His) rs879676957
NM_001377.3(DYNC2H1):c.2558T>C (p.Val853Ala) rs1859514020
NM_001377.3(DYNC2H1):c.2564A>C (p.His855Pro) rs762644833
NM_001377.3(DYNC2H1):c.2564A>G (p.His855Arg) rs762644833
NM_001377.3(DYNC2H1):c.2570A>G (p.His857Arg)
NM_001377.3(DYNC2H1):c.2600_2602del (p.Asp867_Met868delinsVal) rs2134829810
NM_001377.3(DYNC2H1):c.2624A>G (p.His875Arg)
NM_001377.3(DYNC2H1):c.2635G>A (p.Val879Ile)
NM_001377.3(DYNC2H1):c.2635G>C (p.Val879Leu)
NM_001377.3(DYNC2H1):c.2636T>C (p.Val879Ala)
NM_001377.3(DYNC2H1):c.2640T>G (p.His880Gln)
NM_001377.3(DYNC2H1):c.2641G>T (p.Asp881Tyr)
NM_001377.3(DYNC2H1):c.2647G>A (p.Glu883Lys)
NM_001377.3(DYNC2H1):c.2686G>T (p.Val896Leu)
NM_001377.3(DYNC2H1):c.269A>G (p.Asn90Ser)
NM_001377.3(DYNC2H1):c.2741C>G (p.Pro914Arg)
NM_001377.3(DYNC2H1):c.2780T>C (p.Phe927Ser)
NM_001377.3(DYNC2H1):c.2807A>G (p.Lys936Arg)
NM_001377.3(DYNC2H1):c.2939A>G (p.Lys980Arg)
NM_001377.3(DYNC2H1):c.3085A>G (p.Ile1029Val)
NM_001377.3(DYNC2H1):c.3127C>T (p.Arg1043Cys)
NM_001377.3(DYNC2H1):c.3440A>G (p.Glu1147Gly)
NM_001377.3(DYNC2H1):c.3454T>G (p.Phe1152Val) rs1054675967
NM_001377.3(DYNC2H1):c.3457C>T (p.Arg1153Trp)
NM_001377.3(DYNC2H1):c.347T>C (p.Phe116Ser) rs1020246530
NM_001377.3(DYNC2H1):c.3556G>A (p.Glu1186Lys)
NM_001377.3(DYNC2H1):c.3560T>C (p.Val1187Ala) rs2134886800
NM_001377.3(DYNC2H1):c.35T>G (p.Phe12Cys)
NM_001377.3(DYNC2H1):c.3644G>T (p.Arg1215Leu)
NM_001377.3(DYNC2H1):c.3650T>C (p.Leu1217Pro) rs2134890045
NM_001377.3(DYNC2H1):c.365A>C (p.Lys122Thr)
NM_001377.3(DYNC2H1):c.3678G>T (p.Glu1226Asp)
NM_001377.3(DYNC2H1):c.3700C>T (p.Leu1234Phe) rs2134890455
NM_001377.3(DYNC2H1):c.3757C>A (p.Arg1253=)
NM_001377.3(DYNC2H1):c.3860G>A (p.Arg1287Gln)
NM_001377.3(DYNC2H1):c.3890A>G (p.Asp1297Gly)
NM_001377.3(DYNC2H1):c.3953A>G (p.Tyr1318Cys)
NM_001377.3(DYNC2H1):c.3995T>G (p.Leu1332Arg) rs786204078
NM_001377.3(DYNC2H1):c.4099C>T (p.Arg1367Cys)
NM_001377.3(DYNC2H1):c.4100G>A (p.Arg1367His) rs1482736503
NM_001377.3(DYNC2H1):c.4153G>T (p.Asp1385Tyr) rs1860945774
NM_001377.3(DYNC2H1):c.4307A>G (p.Asp1436Gly) rs1014987027
NM_001377.3(DYNC2H1):c.4394G>C (p.Cys1465Ser) rs1861065835
NM_001377.3(DYNC2H1):c.43A>T (p.Thr15Ser)
NM_001377.3(DYNC2H1):c.4511C>T (p.Ala1504Val)
NM_001377.3(DYNC2H1):c.4532T>G (p.Leu1511Trp)
NM_001377.3(DYNC2H1):c.4567C>G (p.Arg1523Gly)
NM_001377.3(DYNC2H1):c.4568G>A (p.Arg1523Gln)
NM_001377.3(DYNC2H1):c.4574C>A (p.Ser1525Tyr)
NM_001377.3(DYNC2H1):c.463A>C (p.Asn155His)
NM_001377.3(DYNC2H1):c.4669G>A (p.Asp1557Asn) rs2134944386
NM_001377.3(DYNC2H1):c.4696C>G (p.Gln1566Glu)
NM_001377.3(DYNC2H1):c.4729A>G (p.Ile1577Val)
NM_001377.3(DYNC2H1):c.4759A>G (p.Thr1587Ala)
NM_001377.3(DYNC2H1):c.4766C>T (p.Ser1589Leu)
NM_001377.3(DYNC2H1):c.4813C>T (p.His1605Tyr) rs2134958830
NM_001377.3(DYNC2H1):c.4898A>G (p.Tyr1633Cys)
NM_001377.3(DYNC2H1):c.4919G>T (p.Cys1640Phe) rs776388776
NM_001377.3(DYNC2H1):c.496A>G (p.Thr166Ala)
NM_001377.3(DYNC2H1):c.500G>A (p.Arg167Gln)
NM_001377.3(DYNC2H1):c.5014T>C (p.Tyr1672His)
NM_001377.3(DYNC2H1):c.5021C>G (p.Thr1674Ser)
NM_001377.3(DYNC2H1):c.503G>A (p.Gly168Asp)
NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro) rs878854166
NM_001377.3(DYNC2H1):c.5141A>T (p.Asn1714Ile) rs2134964404
NM_001377.3(DYNC2H1):c.5143T>A (p.Cys1715Ser)
NM_001377.3(DYNC2H1):c.517A>T (p.Ser173Cys)
NM_001377.3(DYNC2H1):c.5213G>T (p.Gly1738Val) rs1209973260
NM_001377.3(DYNC2H1):c.5315G>A (p.Cys1772Tyr)
NM_001377.3(DYNC2H1):c.5390G>T (p.Gly1797Val)
NM_001377.3(DYNC2H1):c.5399G>A (p.Gly1800Glu) rs1555056136
NM_001377.3(DYNC2H1):c.5417A>C (p.Asp1806Ala)
NM_001377.3(DYNC2H1):c.544C>G (p.Gln182Glu)
NM_001377.3(DYNC2H1):c.5486T>C (p.Ile1829Thr) rs367807679
NM_001377.3(DYNC2H1):c.5511C>A (p.Asp1837Glu)
NM_001377.3(DYNC2H1):c.5548A>G (p.Asn1850Asp)
NM_001377.3(DYNC2H1):c.5585A>G (p.Tyr1862Cys)
NM_001377.3(DYNC2H1):c.5593G>A (p.Gly1865Ser)
NM_001377.3(DYNC2H1):c.5674+4T>G
NM_001377.3(DYNC2H1):c.5750G>A (p.Arg1917Gln)
NM_001377.3(DYNC2H1):c.5783G>A (p.Gly1928Glu) rs1164274164
NM_001377.3(DYNC2H1):c.5786T>C (p.Ile1929Thr) rs2134988923
NM_001377.3(DYNC2H1):c.5885C>G (p.Ala1962Gly) rs2134994109
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.622G>A (p.Glu208Lys)
NM_001377.3(DYNC2H1):c.6311C>T (p.Pro2104Leu)
NM_001377.3(DYNC2H1):c.6335T>A (p.Met2112Lys) rs2135001459
NM_001377.3(DYNC2H1):c.6336G>T (p.Met2112Ile)
NM_001377.3(DYNC2H1):c.635T>C (p.Leu212Ser)
NM_001377.3(DYNC2H1):c.6383C>T (p.Ser2128Phe)
NM_001377.3(DYNC2H1):c.6466G>A (p.Val2156Ile)
NM_001377.3(DYNC2H1):c.6512C>T (p.Thr2171Ile)
NM_001377.3(DYNC2H1):c.6559G>A (p.Glu2187Lys)
NM_001377.3(DYNC2H1):c.6560A>G (p.Glu2187Gly) rs745882724
NM_001377.3(DYNC2H1):c.658G>T (p.Val220Phe) rs1565311011
NM_001377.3(DYNC2H1):c.6626C>T (p.Thr2209Ile)
NM_001377.3(DYNC2H1):c.6694G>C (p.Asp2232His) rs1555061008
NM_001377.3(DYNC2H1):c.6740A>G (p.Glu2247Gly)
NM_001377.3(DYNC2H1):c.6755A>G (p.Asp2252Gly)
NM_001377.3(DYNC2H1):c.6775A>G (p.Thr2259Ala)
NM_001377.3(DYNC2H1):c.6799G>A (p.Asp2267Asn) rs2135029173
NM_001377.3(DYNC2H1):c.6803T>C (p.Met2268Thr)
NM_001377.3(DYNC2H1):c.6820T>G (p.Tyr2274Asp)
NM_001377.3(DYNC2H1):c.6925C>T (p.Arg2309Trp)
NM_001377.3(DYNC2H1):c.6958G>T (p.Ala2320Ser)
NM_001377.3(DYNC2H1):c.6974G>A (p.Arg2325Gln)
NM_001377.3(DYNC2H1):c.7121T>C (p.Leu2374Ser) rs969682915
NM_001377.3(DYNC2H1):c.713C>G (p.Thr238Arg)
NM_001377.3(DYNC2H1):c.7141G>T (p.Val2381Leu) rs757701499
NM_001377.3(DYNC2H1):c.7148C>T (p.Thr2383Met)
NM_001377.3(DYNC2H1):c.719A>G (p.His240Arg) rs749778723
NM_001377.3(DYNC2H1):c.7216A>G (p.Met2406Val)
NM_001377.3(DYNC2H1):c.7273G>A (p.Val2425Ile)
NM_001377.3(DYNC2H1):c.728A>G (p.Tyr243Cys)
NM_001377.3(DYNC2H1):c.7293-3T>C
NM_001377.3(DYNC2H1):c.72G>A (p.Met24Ile)
NM_001377.3(DYNC2H1):c.731C>T (p.Pro244Leu) rs768145132
NM_001377.3(DYNC2H1):c.7331C>T (p.Ala2444Val)
NM_001377.3(DYNC2H1):c.7368T>A (p.Asn2456Lys)
NM_001377.3(DYNC2H1):c.7495C>G (p.Leu2499Val) rs878854167
NM_001377.3(DYNC2H1):c.7562A>C (p.Asp2521Ala)
NM_001377.3(DYNC2H1):c.7726T>C (p.Trp2576Arg)
NM_001377.3(DYNC2H1):c.772T>G (p.Ser258Ala) rs1858479782
NM_001377.3(DYNC2H1):c.7839G>C (p.Lys2613Asn) rs1325973305
NM_001377.3(DYNC2H1):c.8011A>G (p.Met2671Val)
NM_001377.3(DYNC2H1):c.8089-3C>A rs1229906788
NM_001377.3(DYNC2H1):c.8107A>T (p.Ile2703Phe) rs751064079
NM_001377.3(DYNC2H1):c.8113G>C (p.Ala2705Pro)
NM_001377.3(DYNC2H1):c.8198-3T>C
NM_001377.3(DYNC2H1):c.8225A>G (p.Glu2742Gly) rs989892852
NM_001377.3(DYNC2H1):c.8243T>C (p.Leu2748Pro)
NM_001377.3(DYNC2H1):c.8309A>G (p.Tyr2770Cys)
NM_001377.3(DYNC2H1):c.8354C>A (p.Ala2785Glu)
NM_001377.3(DYNC2H1):c.8371A>G (p.Ile2791Val)
NM_001377.3(DYNC2H1):c.8504A>T (p.Asp2835Val) rs540042560
NM_001377.3(DYNC2H1):c.8550T>G (p.Asp2850Glu) rs1863164629
NM_001377.3(DYNC2H1):c.8593T>C (p.Tyr2865His)
NM_001377.3(DYNC2H1):c.8674A>C (p.Lys2892Gln)
NM_001377.3(DYNC2H1):c.8726C>T (p.Ala2909Val)
NM_001377.3(DYNC2H1):c.8773C>T (p.Leu2925Phe)
NM_001377.3(DYNC2H1):c.8822T>G (p.Val2941Gly) rs923392944
NM_001377.3(DYNC2H1):c.8834A>T (p.Asp2945Val) rs2135147476
NM_001377.3(DYNC2H1):c.9019C>T (p.Arg3007Cys)
NM_001377.3(DYNC2H1):c.905C>T (p.Thr302Ile) rs1858489010
NM_001377.3(DYNC2H1):c.909T>A (p.Gly303=)
NM_001377.3(DYNC2H1):c.9139A>G (p.Ile3047Val) rs2135153656
NM_001377.3(DYNC2H1):c.9187G>A (p.Val3063Ile)
NM_001377.3(DYNC2H1):c.922C>T (p.Arg308Cys)
NM_001377.3(DYNC2H1):c.9280A>C (p.Lys3094Gln)
NM_001377.3(DYNC2H1):c.9283G>A (p.Ala3095Thr)
NM_001377.3(DYNC2H1):c.9380A>G (p.Lys3127Arg)
NM_001377.3(DYNC2H1):c.938C>G (p.Pro313Arg)
NM_001377.3(DYNC2H1):c.9409G>T (p.Val3137Phe)
NM_001377.3(DYNC2H1):c.9526A>G (p.Ile3176Val)
NM_001377.3(DYNC2H1):c.954A>C (p.Lys318Asn)
NM_001377.3(DYNC2H1):c.9595A>G (p.Thr3199Ala)
NM_001377.3(DYNC2H1):c.962C>G (p.Pro321Arg)
NM_001377.3(DYNC2H1):c.9640C>A (p.Leu3214Ile)
NM_001377.3(DYNC2H1):c.9650C>T (p.Ala3217Val)
NM_001377.3(DYNC2H1):c.9905T>C (p.Val3302Ala) rs1365232282
NM_001377.3(DYNC2H1):c.9918+3A>G
NM_001377.3(DYNC2H1):c.9948A>C (p.Leu3316Phe)
NM_001377.3(DYNC2H1):c.9983A>C (p.Glu3328Ala) rs1864571633
NM_014714.4(IFT140):c.1037G>T (p.Gly346Val)
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr) rs1188370536
NM_014714.4(IFT140):c.1056G>T (p.Arg352Ser) rs750247837
NM_014714.4(IFT140):c.106A>T (p.Ser36Cys)
NM_014714.4(IFT140):c.1081C>T (p.Pro361Ser)
NM_014714.4(IFT140):c.1103G>C (p.Arg368Thr) rs765706103
NM_014714.4(IFT140):c.110C>G (p.Thr37Arg) rs1487413546
NM_014714.4(IFT140):c.1118C>T (p.Thr373Ile)
NM_014714.4(IFT140):c.1121C>T (p.Pro374Leu) rs2034866707
NM_014714.4(IFT140):c.1135G>C (p.Gly379Arg) rs2034865826
NM_014714.4(IFT140):c.113C>A (p.Thr38Asn) rs747462746
NM_014714.4(IFT140):c.1144A>G (p.Thr382Ala) rs748786377
NM_014714.4(IFT140):c.1187A>T (p.Asn396Ile)
NM_014714.4(IFT140):c.118A>G (p.Thr40Ala) rs1331143723
NM_014714.4(IFT140):c.1243C>A (p.Gln415Lys)
NM_014714.4(IFT140):c.1268C>A (p.Ser423Tyr)
NM_014714.4(IFT140):c.1293C>A (p.Phe431Leu)
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala)
NM_014714.4(IFT140):c.1334A>G (p.His445Arg) rs2141817075
NM_014714.4(IFT140):c.1359+13G>A
NM_014714.4(IFT140):c.1359G>A (p.Lys453=) rs2034740047
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr) rs747510464
NM_014714.4(IFT140):c.1394C>T (p.Ala465Val)
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val) rs190034269
NM_014714.4(IFT140):c.1406T>A (p.Leu469His) rs924912054
NM_014714.4(IFT140):c.1427G>C (p.Ser476Thr)
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser) rs2034677396
NM_014714.4(IFT140):c.142G>A (p.Glu48Lys)
NM_014714.4(IFT140):c.1432+5G>A
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr) rs1596402406
NM_014714.4(IFT140):c.1465A>G (p.Met489Val) rs778765501
NM_014714.4(IFT140):c.1483T>G (p.Tyr495Asp) rs2141751528
NM_014714.4(IFT140):c.1486A>G (p.Thr496Ala)
NM_014714.4(IFT140):c.1490T>C (p.Val497Ala) rs2141751314
NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp)
NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe)
NM_014714.4(IFT140):c.1502G>A (p.Arg501Gln)
NM_014714.4(IFT140):c.150G>T (p.Gly50=) rs1257577001
NM_014714.4(IFT140):c.1514G>A (p.Arg505Gln)
NM_014714.4(IFT140):c.1519T>C (p.Trp507Arg)
NM_014714.4(IFT140):c.1520G>C (p.Trp507Ser)
NM_014714.4(IFT140):c.1525-5_1525-3del rs757146365
NM_014714.4(IFT140):c.1528A>G (p.Thr510Ala)
NM_014714.4(IFT140):c.1529C>T (p.Thr510Ile)
NM_014714.4(IFT140):c.1535A>G (p.Lys512Arg) rs2141634655
NM_014714.4(IFT140):c.1541T>G (p.Leu514Arg) rs150903791
NM_014714.4(IFT140):c.1542CCT[1] (p.Leu516del)
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg) rs886051770
NM_014714.4(IFT140):c.1568A>T (p.Asn523Ile)
NM_014714.4(IFT140):c.1582G>C (p.Asp528His)
NM_014714.4(IFT140):c.1641T>G (p.Asp547Glu)
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro) rs762399912
NM_014714.4(IFT140):c.1652+4A>G
NM_014714.4(IFT140):c.1652+5A>T rs1332507276
NM_014714.4(IFT140):c.1663G>A (p.Ala555Thr) rs1318199702
NM_014714.4(IFT140):c.1669T>C (p.Cys557Arg)
NM_014714.4(IFT140):c.1677C>G (p.Cys559Trp) rs2033834541
NM_014714.4(IFT140):c.1679G>A (p.Arg560Lys)
NM_014714.4(IFT140):c.1682G>T (p.Ser561Ile)
NM_014714.4(IFT140):c.1703G>A (p.Gly568Glu) rs768821637
NM_014714.4(IFT140):c.1717G>T (p.Ala573Ser) rs528350505
NM_014714.4(IFT140):c.1720T>C (p.Ser574Pro) rs2033831042
NM_014714.4(IFT140):c.1727G>C (p.Arg576Pro) rs373111085
NM_014714.4(IFT140):c.172G>A (p.Val58Ile)
NM_014714.4(IFT140):c.1732AGC[4] (p.Ser580dup) rs2141595569
NM_014714.4(IFT140):c.1739G>A (p.Ser580Asn) rs1019259823
NM_014714.4(IFT140):c.1739G>C (p.Ser580Thr) rs1019259823
NM_014714.4(IFT140):c.173T>G (p.Val58Gly)
NM_014714.4(IFT140):c.1753A>C (p.Ser585Arg)
NM_014714.4(IFT140):c.175G>A (p.Glu59Lys)
NM_014714.4(IFT140):c.1771G>A (p.Ala591Thr) rs751413638
NM_014714.4(IFT140):c.177G>C (p.Glu59Asp) rs1431384802
NM_014714.4(IFT140):c.1782C>A (p.Ser594Arg) rs2033711810
NM_014714.4(IFT140):c.1792A>G (p.Lys598Glu) rs2141571032
NM_014714.4(IFT140):c.1816A>G (p.Met606Val) rs1319739285
NM_014714.4(IFT140):c.1854A>C (p.Gln618His) rs765410918
NM_014714.4(IFT140):c.1858G>A (p.Asp620Asn)
NM_014714.4(IFT140):c.1859A>C (p.Asp620Ala)
NM_014714.4(IFT140):c.1867G>C (p.Glu623Gln)
NM_014714.4(IFT140):c.1871C>T (p.Thr624Met) rs891304446
NM_014714.4(IFT140):c.188G>C (p.Arg63Pro) rs765411860
NM_014714.4(IFT140):c.1890A>G (p.Gln630=) rs2141569269
NM_014714.4(IFT140):c.1891G>A (p.Glu631Lys)
NM_014714.4(IFT140):c.1891G>C (p.Glu631Gln) rs777613696
NM_014714.4(IFT140):c.190G>C (p.Val64Leu)
NM_014714.4(IFT140):c.1937A>G (p.Tyr646Cys) rs762218450
NM_014714.4(IFT140):c.1952A>G (p.His651Arg)
NM_014714.4(IFT140):c.1957T>C (p.Trp653Arg)
NM_014714.4(IFT140):c.1968_1969inv (p.Glu657Lys)
NM_014714.4(IFT140):c.1973C>T (p.Pro658Leu)
NM_014714.4(IFT140):c.1976G>T (p.Arg659Leu)
NM_014714.4(IFT140):c.1978C>A (p.Leu660Met) rs2033579292
NM_014714.4(IFT140):c.1989C>G (p.Cys663Trp) rs781117803
NM_014714.4(IFT140):c.1996G>A (p.Val666Met)
NM_014714.4(IFT140):c.2000A>G (p.Gln667Arg)
NM_014714.4(IFT140):c.2021C>T (p.Pro674Leu) rs1240961381
NM_014714.4(IFT140):c.2023C>A (p.Gln675Lys) rs1202626787
NM_014714.4(IFT140):c.2030C>T (p.Ala677Val) rs1339244784
NM_014714.4(IFT140):c.2056G>A (p.Ala686Thr)
NM_014714.4(IFT140):c.2067+4C>G rs111785408
NM_014714.4(IFT140):c.2068-3C>G rs2033444839
NM_014714.4(IFT140):c.2089TTC[1] (p.Phe698del) rs768883274
NM_014714.4(IFT140):c.208C>T (p.His70Tyr) rs2142042420
NM_014714.4(IFT140):c.2090T>C (p.Phe697Ser) rs1343501211
NM_014714.4(IFT140):c.2101G>A (p.Glu701Lys)
NM_014714.4(IFT140):c.2105A>G (p.Glu702Gly) rs2033441889
NM_014714.4(IFT140):c.2111G>A (p.Gly704Asp)
NM_014714.4(IFT140):c.2123A>G (p.His708Arg) rs2033440134
NM_014714.4(IFT140):c.2125G>A (p.Glu709Lys)
NM_014714.4(IFT140):c.2129G>T (p.Ser710Ile)
NM_014714.4(IFT140):c.212C>G (p.Pro71Arg)
NM_014714.4(IFT140):c.2137C>T (p.Arg713Trp)
NM_014714.4(IFT140):c.2158C>G (p.Leu720Val) rs756482228
NM_014714.4(IFT140):c.2174T>C (p.Val725Ala)
NM_014714.4(IFT140):c.2177C>A (p.Pro726His) rs1417500285
NM_014714.4(IFT140):c.218G>A (p.Arg73Gln) rs149202904
NM_014714.4(IFT140):c.2194A>G (p.Arg732Gly) rs2033435038
NM_014714.4(IFT140):c.2199G>A (p.Lys733=) rs752216380
NM_014714.4(IFT140):c.2200C>T (p.Pro734Ser) rs1298153861
NM_014714.4(IFT140):c.2204A>G (p.Glu735Gly)
NM_014714.4(IFT140):c.2221G>A (p.Asp741Asn)
NM_014714.4(IFT140):c.2259G>A (p.Met753Ile) rs2033203151
NM_014714.4(IFT140):c.2273C>T (p.Pro758Leu)
NM_014714.4(IFT140):c.2287G>A (p.Val763Met)
NM_014714.4(IFT140):c.2315C>T (p.Thr772Ile)
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met) rs2033196611
NM_014714.4(IFT140):c.2359G>C (p.Asp787His)
NM_014714.4(IFT140):c.2366A>T (p.Asp789Val) rs1555486589
NM_014714.4(IFT140):c.2368G>A (p.Glu790Lys)
NM_014714.4(IFT140):c.2369A>T (p.Glu790Val)
NM_014714.4(IFT140):c.236G>T (p.Gly79Val)
NM_014714.4(IFT140):c.2372C>T (p.Ala791Val) rs758544371
NM_014714.4(IFT140):c.2375T>C (p.Phe792Ser) rs2033194698
NM_014714.4(IFT140):c.2392A>G (p.Ile798Val)
NM_014714.4(IFT140):c.2399+6G>A
NM_014714.4(IFT140):c.2400-3del rs1396232913
NM_014714.4(IFT140):c.240G>T (p.Trp80Cys) rs1471379682
NM_014714.4(IFT140):c.2426G>A (p.Arg809His)
NM_014714.4(IFT140):c.2426G>C (p.Arg809Pro) rs780661065
NM_014714.4(IFT140):c.2432G>T (p.Cys811Phe) rs1358171484
NM_014714.4(IFT140):c.2434G>T (p.Val812Leu) rs569828117
NM_014714.4(IFT140):c.244A>G (p.Thr82Ala) rs2035846064
NM_014714.4(IFT140):c.2479A>G (p.Met827Val) rs372141549
NM_014714.4(IFT140):c.2480T>C (p.Met827Thr)
NM_014714.4(IFT140):c.2494G>A (p.Gly832Arg)
NM_014714.4(IFT140):c.2500C>G (p.Arg834Gly)
NM_014714.4(IFT140):c.2504C>G (p.Ala835Gly) rs368232950
NM_014714.4(IFT140):c.2519A>G (p.Glu840Gly)
NM_014714.4(IFT140):c.251A>G (p.Glu84Gly) rs755089438
NM_014714.4(IFT140):c.251A>T (p.Glu84Val)
NM_014714.4(IFT140):c.2526G>C (p.Glu842Asp)
NM_014714.4(IFT140):c.2527C>A (p.Pro843Thr) rs1567331532
NM_014714.4(IFT140):c.2530G>A (p.Glu844Lys)
NM_014714.4(IFT140):c.2542C>A (p.Arg848Ser)
NM_014714.4(IFT140):c.2554C>G (p.Leu852Val)
NM_014714.4(IFT140):c.2564A>G (p.Gln855Arg)
NM_014714.4(IFT140):c.2572A>T (p.Met858Leu)
NM_014714.4(IFT140):c.2577+3G>A
NM_014714.4(IFT140):c.2577+4A>T rs2141184162
NM_014714.4(IFT140):c.2585C>T (p.Ala862Val)
NM_014714.4(IFT140):c.25A>C (p.Ile9Leu)
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.2636A>G (p.Tyr879Cys)
NM_014714.4(IFT140):c.2648G>T (p.Gly883Val)
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.2671G>A (p.Val891Ile)
NM_014714.4(IFT140):c.2681A>G (p.His894Arg)
NM_014714.4(IFT140):c.2704A>C (p.Ser902Arg)
NM_014714.4(IFT140):c.2704A>G (p.Ser902Gly) rs1433656005
NM_014714.4(IFT140):c.2744C>T (p.Ala915Val)
NM_014714.4(IFT140):c.2764A>G (p.Ser922Gly)
NM_014714.4(IFT140):c.2800G>T (p.Val934Leu)
NM_014714.4(IFT140):c.2812C>G (p.Leu938Val) rs2141175204
NM_014714.4(IFT140):c.2818G>A (p.Glu940Lys) rs2141175146
NM_014714.4(IFT140):c.2825T>C (p.Leu942Pro)
NM_014714.4(IFT140):c.2839C>A (p.Leu947Ile)
NM_014714.4(IFT140):c.2859G>T (p.Lys953Asn) rs2040934250
NM_014714.4(IFT140):c.2864A>C (p.Lys955Thr) rs2141174966
NM_014714.4(IFT140):c.2866A>G (p.Thr956Ala) rs780823837
NM_014714.4(IFT140):c.2875C>T (p.Arg959Trp)
NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys) rs759898401
NM_014714.4(IFT140):c.2905G>A (p.Gly969Ser) rs1343112452
NM_014714.4(IFT140):c.2907C>T (p.Gly969=) rs1157630610
NM_014714.4(IFT140):c.2909A>T (p.Glu970Val) rs2141172567
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del) rs1489901262
NM_014714.4(IFT140):c.2926C>A (p.His976Asn)
NM_014714.4(IFT140):c.2947G>C (p.Asp983His)
NM_014714.4(IFT140):c.2951A>G (p.His984Arg) rs2141172218
NM_014714.4(IFT140):c.295C>T (p.Pro99Ser)
NM_014714.4(IFT140):c.2966G>A (p.Arg989His)
NM_014714.4(IFT140):c.2966G>C (p.Arg989Pro)
NM_014714.4(IFT140):c.2993A>G (p.Gln998Arg) rs2141171936
NM_014714.4(IFT140):c.2997+3A>G rs2040628786
NM_014714.4(IFT140):c.2997+6G>T
NM_014714.4(IFT140):c.3006A>G (p.Gln1002=)
NM_014714.4(IFT140):c.3016G>C (p.Glu1006Gln) rs375292299
NM_014714.4(IFT140):c.302C>T (p.Thr101Ile)
NM_014714.4(IFT140):c.3031G>A (p.Ala1011Thr)
NM_014714.4(IFT140):c.3032C>T (p.Ala1011Val)
NM_014714.4(IFT140):c.3038C>T (p.Ser1013Phe) rs2141171017
NM_014714.4(IFT140):c.304C>T (p.His102Tyr) rs1596461586
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys) rs767290624
NM_014714.4(IFT140):c.3053G>A (p.Arg1018His)
NM_014714.4(IFT140):c.3053G>T (p.Arg1018Leu)
NM_014714.4(IFT140):c.3059A>G (p.Tyr1020Cys)
NM_014714.4(IFT140):c.3068AGG[2] (p.Glu1025del)
NM_014714.4(IFT140):c.3080G>C (p.Gly1027Ala)
NM_014714.4(IFT140):c.3109C>G (p.Gln1037Glu) rs774547622
NM_014714.4(IFT140):c.3130C>T (p.Arg1044Cys)
NM_014714.4(IFT140):c.313G>A (p.Asp105Asn)
NM_014714.4(IFT140):c.3142_3144del rs754866110
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn) rs148194893
NM_014714.4(IFT140):c.315C>G (p.Asp105Glu) rs772739900
NM_014714.4(IFT140):c.3164T>C (p.Leu1055Pro)
NM_014714.4(IFT140):c.316A>G (p.Ile106Val) rs1465706247
NM_014714.4(IFT140):c.3188C>T (p.Ser1063Phe)
NM_014714.4(IFT140):c.3190C>G (p.Pro1064Ala)
NM_014714.4(IFT140):c.3201G>A (p.Met1067Ile)
NM_014714.4(IFT140):c.3203T>C (p.Ile1068Thr)
NM_014714.4(IFT140):c.3207G>T (p.Glu1069Asp)
NM_014714.4(IFT140):c.3212C>T (p.Ala1071Val) rs2040595876
NM_014714.4(IFT140):c.3223GAG[1] (p.Glu1076del)
NM_014714.4(IFT140):c.3243G>A (p.Met1081Ile)
NM_014714.4(IFT140):c.3245A>T (p.Asp1082Val) rs781204391
NM_014714.4(IFT140):c.3251C>T (p.Ala1084Val)
NM_014714.4(IFT140):c.325C>T (p.Leu109Phe)
NM_014714.4(IFT140):c.3269A>G (p.Lys1090Arg) rs1007805827
NM_014714.4(IFT140):c.3270+19_3270+20inv
NM_014714.4(IFT140):c.3272C>G (p.Ala1091Gly)
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys) rs140159548
NM_014714.4(IFT140):c.3322G>A (p.Val1108Met) rs2040587996
NM_014714.4(IFT140):c.3323T>C (p.Val1108Ala)
NM_014714.4(IFT140):c.3364G>A (p.Asp1122Asn)
NM_014714.4(IFT140):c.3368C>T (p.Pro1123Leu) rs781672845
NM_014714.4(IFT140):c.3373C>T (p.Leu1125Phe) rs1596302305
NM_014714.4(IFT140):c.3377T>C (p.Leu1126Pro)
NM_014714.4(IFT140):c.3394TTC[1] (p.Phe1133del) rs2040585460
NM_014714.4(IFT140):c.3404A>G (p.Glu1135Gly) rs2141164034
NM_014714.4(IFT140):c.3413_3414delinsTA (p.Gln1138Leu) rs1567326635
NM_014714.4(IFT140):c.341G>T (p.Ser114Ile)
NM_014714.4(IFT140):c.3422G>A (p.Arg1141Lys)
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val) rs370255916
NM_014714.4(IFT140):c.3430_3431delinsAT (p.Glu1144Met)
NM_014714.4(IFT140):c.3453+5G>A
NM_014714.4(IFT140):c.3454T>C (p.Tyr1152His)
NM_014714.4(IFT140):c.347A>G (p.Asn116Ser)
NM_014714.4(IFT140):c.3496A>G (p.Ile1166Val)
NM_014714.4(IFT140):c.3497T>C (p.Ile1166Thr) rs1294933019
NM_014714.4(IFT140):c.3499A>G (p.Thr1167Ala) rs1433941335
NM_014714.4(IFT140):c.3500C>T (p.Thr1167Ile)
NM_014714.4(IFT140):c.3507G>C (p.Glu1169Asp) rs1480279504
NM_014714.4(IFT140):c.3521T>C (p.Met1174Thr)
NM_014714.4(IFT140):c.3526G>T (p.Val1176Leu)
NM_014714.4(IFT140):c.3535G>T (p.Asp1179Tyr) rs1332512487
NM_014714.4(IFT140):c.3566G>T (p.Arg1189Leu) rs149837281
NM_014714.4(IFT140):c.3587C>T (p.Ala1196Val) rs760756337
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val) rs566568065
NM_014714.4(IFT140):c.359C>G (p.Ser120Cys) rs1457067377
NM_014714.4(IFT140):c.3602G>T (p.Arg1201Leu) rs147292597
NM_014714.4(IFT140):c.3617A>G (p.His1206Arg)
NM_014714.4(IFT140):c.3644C>G (p.Ala1215Gly) rs139871912
NM_014714.4(IFT140):c.3670G>A (p.Ala1224Thr) rs373377650
NM_014714.4(IFT140):c.3682T>C (p.Ser1228Pro) rs991385327
NM_014714.4(IFT140):c.369+4A>G rs752104483
NM_014714.4(IFT140):c.3692C>T (p.Thr1231Met)
NM_014714.4(IFT140):c.370-12G>A rs2141917000
NM_014714.4(IFT140):c.3712G>A (p.Ala1238Thr) rs376953801
NM_014714.4(IFT140):c.3739T>C (p.Tyr1247His)
NM_014714.4(IFT140):c.3749C>T (p.Ala1250Val)
NM_014714.4(IFT140):c.3758A>G (p.Tyr1253Cys) rs2141144779
NM_014714.4(IFT140):c.3770T>C (p.Leu1257Pro) rs1470679979
NM_014714.4(IFT140):c.3810C>G (p.Ile1270Met) rs557923123
NM_014714.4(IFT140):c.3811G>A (p.Gly1271Ser)
NM_014714.4(IFT140):c.3833C>A (p.Ala1278Asp) rs147280047
NM_014714.4(IFT140):c.3833C>T (p.Ala1278Val)
NM_014714.4(IFT140):c.3862G>A (p.Ala1288Thr)
NM_014714.4(IFT140):c.3862G>C (p.Ala1288Pro)
NM_014714.4(IFT140):c.3869C>T (p.Ala1290Val)
NM_014714.4(IFT140):c.3874G>A (p.Val1292Met) rs2141143375
NM_014714.4(IFT140):c.3877_3879del (p.Glu1293del) rs1413533372
NM_014714.4(IFT140):c.3879G>T (p.Glu1293Asp) rs2040472652
NM_014714.4(IFT140):c.3898T>C (p.Tyr1300His)
NM_014714.4(IFT140):c.3935A>G (p.Lys1312Arg)
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4]) rs746697405
NM_014714.4(IFT140):c.3953A>G (p.Lys1318Arg) rs2141142851
NM_014714.4(IFT140):c.3955G>A (p.Ala1319Thr) rs2141142844
NM_014714.4(IFT140):c.3956C>T (p.Ala1319Val) rs2040470204
NM_014714.4(IFT140):c.398A>C (p.Asp133Ala) rs2141916604
NM_014714.4(IFT140):c.4022G>C (p.Arg1341Thr) rs1054102092
NM_014714.4(IFT140):c.4027A>G (p.Ile1343Val) rs771070134
NM_014714.4(IFT140):c.4040+3G>A
NM_014714.4(IFT140):c.4040+3G>T rs779462689
NM_014714.4(IFT140):c.4058C>G (p.Pro1353Arg) rs146666187
NM_014714.4(IFT140):c.406G>T (p.Gly136Cys) rs2035235540
NM_014714.4(IFT140):c.4077G>T (p.Gln1359His) rs1387346251
NM_014714.4(IFT140):c.4093G>A (p.Glu1365Lys)
NM_014714.4(IFT140):c.4121G>A (p.Arg1374His) rs778892732
NM_014714.4(IFT140):c.4123A>G (p.Ile1375Val) rs1258339035
NM_014714.4(IFT140):c.4126G>A (p.Gly1376Arg)
NM_014714.4(IFT140):c.4132G>A (p.Val1378Ile)
NM_014714.4(IFT140):c.4136A>T (p.Tyr1379Phe)
NM_014714.4(IFT140):c.413T>G (p.Val138Gly)
NM_014714.4(IFT140):c.4145T>A (p.Leu1382Gln) rs1454067964
NM_014714.4(IFT140):c.4150G>T (p.Glu1384Ter)
NM_014714.4(IFT140):c.4166A>G (p.Lys1389Arg)
NM_014714.4(IFT140):c.4179G>C (p.Gln1393His) rs2040419700
NM_014714.4(IFT140):c.4180_4182+12del
NM_014714.4(IFT140):c.4187A>G (p.Tyr1396Cys) rs2040132765
NM_014714.4(IFT140):c.4190G>A (p.Arg1397Lys)
NM_014714.4(IFT140):c.41C>T (p.Ala14Val) rs2036120849
NM_014714.4(IFT140):c.4201G>C (p.Glu1401Gln) rs2040132121
NM_014714.4(IFT140):c.4204A>G (p.Met1402Val)
NM_014714.4(IFT140):c.4207del (p.Arg1403fs)
NM_014714.4(IFT140):c.4208G>T (p.Arg1403Leu)
NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del) rs754312950
NM_014714.4(IFT140):c.4220C>T (p.Pro1407Leu) rs2141089845
NM_014714.4(IFT140):c.4228A>G (p.Asn1410Asp)
NM_014714.4(IFT140):c.4231A>C (p.Met1411Leu)
NM_014714.4(IFT140):c.4232T>C (p.Met1411Thr) rs752233693
NM_014714.4(IFT140):c.4242C>A (p.Tyr1414Ter)
NM_014714.4(IFT140):c.4258G>A (p.Val1420Met)
NM_014714.4(IFT140):c.4270C>T (p.His1424Tyr)
NM_014714.4(IFT140):c.4272C>A (p.His1424Gln) rs781658694
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp) rs138697817
NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu) rs886051708
NM_014714.4(IFT140):c.4277G>T (p.Gly1426Val)
NM_014714.4(IFT140):c.4330A>G (p.Met1444Val) rs547804955
NM_014714.4(IFT140):c.4339G>A (p.Ala1447Thr)
NM_014714.4(IFT140):c.4341del (p.Arg1448fs) rs1209319873
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del) rs760889117
NM_014714.4(IFT140):c.4366G>A (p.Glu1456Lys) rs1386131080
NM_014714.4(IFT140):c.4386_4387del (p.Ter1463ArgextTer?) rs2040120370
NM_014714.4(IFT140):c.438_440del (p.His146_Glu147delinsGln)
NM_014714.4(IFT140):c.454C>G (p.Leu152Val)
NM_014714.4(IFT140):c.46_57del (p.Gly16_Ser19del)
NM_014714.4(IFT140):c.473G>A (p.Arg158Gln)
NM_014714.4(IFT140):c.476T>C (p.Leu159Pro)
NM_014714.4(IFT140):c.478C>A (p.Pro160Thr)
NM_014714.4(IFT140):c.481C>T (p.Pro161Ser) rs148462329
NM_014714.4(IFT140):c.482C>T (p.Pro161Leu) rs191927317
NM_014714.4(IFT140):c.525C>G (p.Ser175Arg) rs772378665
NM_014714.4(IFT140):c.554A>G (p.Asn185Ser) rs975918006
NM_014714.4(IFT140):c.560A>G (p.Lys187Arg) rs756417017
NM_014714.4(IFT140):c.567C>A (p.Ser189Arg) rs2035217954
NM_014714.4(IFT140):c.570T>G (p.Ser190Arg) rs767008075
NM_014714.4(IFT140):c.583C>A (p.Leu195Met)
NM_014714.4(IFT140):c.584T>C (p.Leu195Pro) rs764851284
NM_014714.4(IFT140):c.587A>G (p.Lys196Arg) rs2141912122
NM_014714.4(IFT140):c.609GTT[1] (p.Leu204del)
NM_014714.4(IFT140):c.624T>A (p.Ser208Arg) rs2035215270
NM_014714.4(IFT140):c.637A>C (p.Thr213Pro) rs2141882480
NM_014714.4(IFT140):c.637A>G (p.Thr213Ala) rs2141882480
NM_014714.4(IFT140):c.638C>T (p.Thr213Ile) rs146302646
NM_014714.4(IFT140):c.644A>G (p.His215Arg)
NM_014714.4(IFT140):c.645C>G (p.His215Gln) rs2035078296
NM_014714.4(IFT140):c.659A>G (p.Lys220Arg)
NM_014714.4(IFT140):c.661G>A (p.Gly221Ser)
NM_014714.4(IFT140):c.676G>T (p.Val226Leu)
NM_014714.4(IFT140):c.700C>A (p.Gln234Lys)
NM_014714.4(IFT140):c.710T>C (p.Phe237Ser)
NM_014714.4(IFT140):c.715A>T (p.Met239Leu)
NM_014714.4(IFT140):c.718_720del (p.Glu240del)
NM_014714.4(IFT140):c.72C>A (p.His24Gln) rs2036118371
NM_014714.4(IFT140):c.73C>G (p.Pro25Ala) rs1408766601
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe) rs886051768
NM_014714.4(IFT140):c.757C>T (p.Arg253Trp)
NM_014714.4(IFT140):c.76G>C (p.Val26Leu)
NM_014714.4(IFT140):c.774G>A (p.Thr258=) rs746955795
NM_014714.4(IFT140):c.775G>A (p.Val259Met) rs1392612759
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del) rs2035068981
NM_014714.4(IFT140):c.810+6T>C rs2035068589
NM_014714.4(IFT140):c.810G>A (p.Lys270=)
NM_014714.4(IFT140):c.844G>C (p.Asp282His)
NM_014714.4(IFT140):c.849C>G (p.Ile283Met) rs563162000
NM_014714.4(IFT140):c.864C>T (p.Gly288=)
NM_014714.4(IFT140):c.881C>T (p.Ala294Val) rs1452513681
NM_014714.4(IFT140):c.895G>T (p.Ala299Ser)
NM_014714.4(IFT140):c.903-5T>A
NM_014714.4(IFT140):c.913A>G (p.Ile305Val)
NM_014714.4(IFT140):c.914T>C (p.Ile305Thr)
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg)
NM_014714.4(IFT140):c.927G>C (p.Glu309Asp) rs2141852274
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) rs758052767
NM_014714.4(IFT140):c.94G>A (p.Val32Ile) rs770234866
NM_014714.4(IFT140):c.94G>C (p.Val32Leu)
NM_014714.4(IFT140):c.94G>T (p.Val32Phe)
NM_014714.4(IFT140):c.973G>A (p.Glu325Lys)
NM_014714.4(IFT140):c.974A>G (p.Glu325Gly)
NM_014714.4(IFT140):c.97G>A (p.Ala33Thr)
NM_014714.4(IFT140):c.986G>A (p.Cys329Tyr)
NM_014714.4(IFT140):c.989T>C (p.Val330Ala) rs2034932329
NM_014714.4(IFT140):c.997T>G (p.Cys333Gly)
NM_015662.3(IFT172):c.100T>G (p.Cys34Gly)
NM_015662.3(IFT172):c.1039G>A (p.Val347Met) rs773726175
NM_015662.3(IFT172):c.1039G>C (p.Val347Leu)
NM_015662.3(IFT172):c.1092A>T (p.Gly364=)
NM_015662.3(IFT172):c.1097A>C (p.Glu366Ala) rs1668096577
NM_015662.3(IFT172):c.1099C>A (p.Arg367Ser)
NM_015662.3(IFT172):c.112C>G (p.Arg38Gly)
NM_015662.3(IFT172):c.113G>A (p.Arg38Gln) rs552861632
NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp) rs1668091920
NM_015662.3(IFT172):c.1162A>G (p.Ser388Gly) rs1668091082
NM_015662.3(IFT172):c.1167+3A>G rs2148543961
NM_015662.3(IFT172):c.1167+5G>T rs2148543947
NM_015662.3(IFT172):c.1171G>C (p.Ala391Pro)
NM_015662.3(IFT172):c.1198_1200del (p.Lys400del) rs2148542998
NM_015662.3(IFT172):c.1225T>C (p.Cys409Arg)
NM_015662.3(IFT172):c.124C>A (p.Leu42Met)
NM_015662.3(IFT172):c.1273A>G (p.Asn425Asp) rs145145347
NM_015662.3(IFT172):c.1310_1311insAAA (p.Met436_Asn437insLys)
NM_015662.3(IFT172):c.1325+6C>T rs753078264
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys) rs1038040281
NM_015662.3(IFT172):c.1340A>G (p.Glu447Gly)
NM_015662.3(IFT172):c.137A>T (p.His46Leu)
NM_015662.3(IFT172):c.1388T>C (p.Ile463Thr)
NM_015662.3(IFT172):c.1393A>G (p.Ile465Val) rs1667974652
NM_015662.3(IFT172):c.1413G>A (p.Val471=) rs2148531759
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val) rs1667635292
NM_015662.3(IFT172):c.1444G>C (p.Val482Leu) rs771104054
NM_015662.3(IFT172):c.1448G>A (p.Ser483Asn) rs1176061294
NM_015662.3(IFT172):c.1460G>A (p.Arg487His) rs368967337
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg) rs1282056614
NM_015662.3(IFT172):c.1507A>G (p.Arg503Gly)
NM_015662.3(IFT172):c.1514G>A (p.Arg505Gln)
NM_015662.3(IFT172):c.1525-20C>G
NM_015662.3(IFT172):c.153T>G (p.Asp51Glu) rs537341371
NM_015662.3(IFT172):c.1544A>G (p.Glu515Gly)
NM_015662.3(IFT172):c.1559C>A (p.Thr520Lys)
NM_015662.3(IFT172):c.1559C>G (p.Thr520Arg)
NM_015662.3(IFT172):c.1561A>G (p.Met521Val)
NM_015662.3(IFT172):c.1564A>T (p.Ile522Phe) rs1437298206
NM_015662.3(IFT172):c.1570A>G (p.Asn524Asp) rs1667528581
NM_015662.3(IFT172):c.1571A>G (p.Asn524Ser)
NM_015662.3(IFT172):c.1575C>G (p.Phe525Leu) rs2148528504
NM_015662.3(IFT172):c.1577G>T (p.Cys526Phe) rs1667527908
NM_015662.3(IFT172):c.1615G>A (p.Val539Ile) rs1667524518
NM_015662.3(IFT172):c.161C>T (p.Ser54Phe)
NM_015662.3(IFT172):c.1646G>C (p.Trp549Ser)
NM_015662.3(IFT172):c.1666G>A (p.Glu556Lys)
NM_015662.3(IFT172):c.1675A>G (p.Thr559Ala)
NM_015662.3(IFT172):c.1691G>C (p.Arg564Thr)
NM_015662.3(IFT172):c.1692+6T>A rs771744568
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu) rs765731241
NM_015662.3(IFT172):c.1712A>C (p.Glu571Ala)
NM_015662.3(IFT172):c.1714C>T (p.Arg572Trp)
NM_015662.3(IFT172):c.1718G>A (p.Gly573Asp)
NM_015662.3(IFT172):c.1732G>A (p.Glu578Lys)
NM_015662.3(IFT172):c.1794G>C (p.Glu598Asp) rs147885790
NM_015662.3(IFT172):c.1807A>G (p.Ile603Val) rs1442344603
NM_015662.3(IFT172):c.1816G>A (p.Gly606Ser) rs745938799
NM_015662.3(IFT172):c.1823A>G (p.Tyr608Cys)
NM_015662.3(IFT172):c.1829+3G>A rs751267637
NM_015662.3(IFT172):c.1838C>A (p.Ala613Asp)
NM_015662.3(IFT172):c.1849A>G (p.Thr617Ala) rs1403737174
NM_015662.3(IFT172):c.1859T>G (p.Met620Arg)
NM_015662.3(IFT172):c.185A>G (p.Tyr62Cys) rs2148559384
NM_015662.3(IFT172):c.1879A>G (p.Met627Val)
NM_015662.3(IFT172):c.1898A>G (p.Lys633Arg)
NM_015662.3(IFT172):c.1925A>C (p.His642Pro) rs2148515313
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.1933G>C (p.Glu645Gln)
NM_015662.3(IFT172):c.1934A>T (p.Glu645Val)
NM_015662.3(IFT172):c.1937+5G>A
NM_015662.3(IFT172):c.1937+6G>A rs1558388446
NM_015662.3(IFT172):c.195_196delinsTT (p.Lys65_Ser66delinsAsnCys) rs2148559359
NM_015662.3(IFT172):c.1993G>A (p.Glu665Lys)
NM_015662.3(IFT172):c.1999G>A (p.Ala667Thr) rs755632444
NM_015662.3(IFT172):c.2005C>G (p.Gln669Glu) rs1666808431
NM_015662.3(IFT172):c.202A>G (p.Met68Val) rs1007588478
NM_015662.3(IFT172):c.2047C>G (p.Gln683Glu)
NM_015662.3(IFT172):c.2049G>C (p.Gln683His) rs780709991
NM_015662.3(IFT172):c.2054G>A (p.Arg685Gln) rs561676433
NM_015662.3(IFT172):c.205G>A (p.Val69Met) rs756299134
NM_015662.3(IFT172):c.2060G>A (p.Arg687His)
NM_015662.3(IFT172):c.2060G>T (p.Arg687Leu) rs145601549
NM_015662.3(IFT172):c.2084A>G (p.Tyr695Cys) rs1666775725
NM_015662.3(IFT172):c.2100G>T (p.Met700Ile)
NM_015662.3(IFT172):c.2129A>C (p.Glu710Ala)
NM_015662.3(IFT172):c.2148G>T (p.Gln716His)
NM_015662.3(IFT172):c.2159G>C (p.Arg720Pro) rs202089120
NM_015662.3(IFT172):c.2193+5C>T rs2148507369
NM_015662.3(IFT172):c.2193+6T>G rs2148507360
NM_015662.3(IFT172):c.2197C>A (p.His733Asn) rs774487712
NM_015662.3(IFT172):c.2210A>G (p.Glu737Gly)
NM_015662.3(IFT172):c.2234A>C (p.Gln745Pro) rs765641043
NM_015662.3(IFT172):c.2236T>G (p.Trp746Gly)
NM_015662.3(IFT172):c.2261A>G (p.Glu754Gly)
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro) rs78631901
NM_015662.3(IFT172):c.2294A>G (p.Asp765Gly)
NM_015662.3(IFT172):c.2309_2311dup (p.Ile770dup) rs1239784714
NM_015662.3(IFT172):c.2310C>G (p.Ile770Met) rs747166388
NM_015662.3(IFT172):c.2318A>G (p.Tyr773Cys)
NM_015662.3(IFT172):c.2339C>T (p.Ala780Val) rs2148506384
NM_015662.3(IFT172):c.233C>T (p.Ser78Phe)
NM_015662.3(IFT172):c.2365C>G (p.Arg789Gly) rs202024173
NM_015662.3(IFT172):c.2380G>C (p.Ala794Pro)
NM_015662.3(IFT172):c.2387C>G (p.Thr796Arg)
NM_015662.3(IFT172):c.2408C>T (p.Thr803Ile)
NM_015662.3(IFT172):c.2431C>A (p.Leu811Ile) rs933347695
NM_015662.3(IFT172):c.2431C>G (p.Leu811Val) rs933347695
NM_015662.3(IFT172):c.2435A>C (p.Tyr812Ser) rs2148506110
NM_015662.3(IFT172):c.2442+5G>A rs1666641444
NM_015662.3(IFT172):c.244G>T (p.Ala82Ser)
NM_015662.3(IFT172):c.2459A>T (p.Glu820Val) rs1666622337
NM_015662.3(IFT172):c.2463G>T (p.Lys821Asn)
NM_015662.3(IFT172):c.2490G>C (p.Glu830Asp) rs2148505488
NM_015662.3(IFT172):c.2497C>T (p.Arg833Cys)
NM_015662.3(IFT172):c.2503G>A (p.Gly835Ser) rs1474467674
NM_015662.3(IFT172):c.2507A>T (p.Asn836Ile)
NM_015662.3(IFT172):c.2515A>C (p.Met839Leu)
NM_015662.3(IFT172):c.2523G>A (p.Ala841=)
NM_015662.3(IFT172):c.265A>G (p.Ile89Val)
NM_015662.3(IFT172):c.2660T>C (p.Ile887Thr) rs761267426
NM_015662.3(IFT172):c.2665G>T (p.Ala889Ser)
NM_015662.3(IFT172):c.2672_2680del (p.Leu891_Ala893del) rs1169567028
NM_015662.3(IFT172):c.2674G>A (p.Gly892Ser)
NM_015662.3(IFT172):c.2696C>T (p.Ala899Val) rs1666451473
NM_015662.3(IFT172):c.2741A>G (p.Tyr914Cys) rs2148501580
NM_015662.3(IFT172):c.2747C>T (p.Pro916Leu)
NM_015662.3(IFT172):c.274G>C (p.Val92Leu) rs2148559132
NM_015662.3(IFT172):c.275T>C (p.Val92Ala) rs1306568500
NM_015662.3(IFT172):c.2800_2811dup (p.Lys937_Gly938insLeuTyrThrLys)
NM_015662.3(IFT172):c.2806A>G (p.Thr936Ala)
NM_015662.3(IFT172):c.2809A>G (p.Lys937Glu) rs1000172880
NM_015662.3(IFT172):c.2811G>T (p.Lys937Asn)
NM_015662.3(IFT172):c.281A>C (p.Lys94Thr) rs1668654872
NM_015662.3(IFT172):c.2833A>G (p.Ile945Val) rs1477777983
NM_015662.3(IFT172):c.2839A>G (p.Met947Val) rs774401568
NM_015662.3(IFT172):c.2840T>C (p.Met947Thr)
NM_015662.3(IFT172):c.2845A>G (p.Thr949Ala) rs1666396574
NM_015662.3(IFT172):c.2857C>G (p.Arg953Gly)
NM_015662.3(IFT172):c.2884A>G (p.Met962Val) rs541501287
NM_015662.3(IFT172):c.2891G>A (p.Cys964Tyr)
NM_015662.3(IFT172):c.2905G>C (p.Asp969His) rs1666329493
NM_015662.3(IFT172):c.2915T>A (p.Val972Glu) rs2148498608
NM_015662.3(IFT172):c.2947A>G (p.Lys983Glu)
NM_015662.3(IFT172):c.2962C>T (p.Arg988Cys)
NM_015662.3(IFT172):c.2963G>A (p.Arg988His)
NM_015662.3(IFT172):c.2969C>A (p.Ala990Asp)
NM_015662.3(IFT172):c.297G>T (p.Trp99Cys) rs2148557687
NM_015662.3(IFT172):c.2989G>A (p.Val997Ile)
NM_015662.3(IFT172):c.2994A>C (p.Gln998His)
NM_015662.3(IFT172):c.3001G>C (p.Asp1001His) rs1666300541
NM_015662.3(IFT172):c.3023A>C (p.Lys1008Thr) rs372047259
NM_015662.3(IFT172):c.3023A>G (p.Lys1008Arg)
NM_015662.3(IFT172):c.3044A>G (p.Asp1015Gly) rs1666295604
NM_015662.3(IFT172):c.3071A>G (p.His1024Arg) rs2148497488
NM_015662.3(IFT172):c.3112-19C>G rs1666279699
NM_015662.3(IFT172):c.3112G>A (p.Glu1038Lys)
NM_015662.3(IFT172):c.3121G>A (p.Ala1041Thr)
NM_015662.3(IFT172):c.3153C>G (p.His1051Gln) rs1666273532
NM_015662.3(IFT172):c.3154T>C (p.Tyr1052His)
NM_015662.3(IFT172):c.3160G>C (p.Glu1054Gln) rs763117647
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.3196C>G (p.Arg1066Gly) rs148997142
NM_015662.3(IFT172):c.3202A>T (p.Ser1068Cys) rs1666267648
NM_015662.3(IFT172):c.3205G>A (p.Gly1069Arg) rs1666267219
NM_015662.3(IFT172):c.3250G>T (p.Ala1084Ser)
NM_015662.3(IFT172):c.3257C>T (p.Ala1086Val)
NM_015662.3(IFT172):c.325T>C (p.Phe109Leu) rs542128061
NM_015662.3(IFT172):c.3267C>A (p.His1089Gln)
NM_015662.3(IFT172):c.3307G>T (p.Ala1103Ser)
NM_015662.3(IFT172):c.3313_3327del (p.Arg1105_Lys1109del) rs2148494469
NM_015662.3(IFT172):c.332A>G (p.Gln111Arg)
NM_015662.3(IFT172):c.3341A>T (p.Glu1114Val)
NM_015662.3(IFT172):c.3379G>C (p.Glu1127Gln) rs1158499870
NM_015662.3(IFT172):c.3401G>A (p.Arg1134Gln) rs148624326
NM_015662.3(IFT172):c.340G>A (p.Ala114Thr) rs2148556996
NM_015662.3(IFT172):c.3425C>T (p.Pro1142Leu)
NM_015662.3(IFT172):c.3448A>G (p.Met1150Val) rs769882549
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp) rs935403723
NM_015662.3(IFT172):c.3466-11_3466-8del rs773373497
NM_015662.3(IFT172):c.3466G>C (p.Gly1156Arg) rs1665983486
NM_015662.3(IFT172):c.3475G>A (p.Glu1159Lys)
NM_015662.3(IFT172):c.3488C>T (p.Ala1163Val)
NM_015662.3(IFT172):c.3511C>G (p.Pro1171Ala) rs747503760
NM_015662.3(IFT172):c.3520G>C (p.Ala1174Pro)
NM_015662.3(IFT172):c.3523G>A (p.Val1175Ile)
NM_015662.3(IFT172):c.3580C>G (p.His1194Asp) rs764965204
NM_015662.3(IFT172):c.3586C>T (p.Pro1196Ser) rs1665955306
NM_015662.3(IFT172):c.3590A>G (p.Asp1197Gly) rs760796294
NM_015662.3(IFT172):c.3598G>A (p.Ala1200Thr) rs377521375
NM_015662.3(IFT172):c.3604G>T (p.Val1202Leu)
NM_015662.3(IFT172):c.3607C>G (p.Leu1203Val) rs2148488428
NM_015662.3(IFT172):c.3616C>G (p.Gln1206Glu) rs1313893050
NM_015662.3(IFT172):c.3620C>T (p.Ala1207Val) rs746530471
NM_015662.3(IFT172):c.3623G>A (p.Arg1208Gln) rs758387302
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro) rs758387302
NM_015662.3(IFT172):c.362C>T (p.Pro121Leu) rs765202929
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp) rs532669006
NM_015662.3(IFT172):c.3634G>A (p.Glu1212Lys) rs764315033
NM_015662.3(IFT172):c.3637G>A (p.Glu1213Lys)
NM_015662.3(IFT172):c.3662G>C (p.Gly1221Ala) rs1454157190
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His) rs746597294
NM_015662.3(IFT172):c.3701A>G (p.Asn1234Ser)
NM_015662.3(IFT172):c.3712G>A (p.Glu1238Lys)
NM_015662.3(IFT172):c.371A>T (p.Tyr124Phe)
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile) rs145507269
NM_015662.3(IFT172):c.3730G>A (p.Asp1244Asn)
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del) rs763826196
NM_015662.3(IFT172):c.3791A>T (p.Tyr1264Phe)
NM_015662.3(IFT172):c.3793G>C (p.Glu1265Gln)
NM_015662.3(IFT172):c.3797G>A (p.Arg1266Gln)
NM_015662.3(IFT172):c.3811A>G (p.Lys1271Glu)
NM_015662.3(IFT172):c.3813G>T (p.Lys1271Asn)
NM_015662.3(IFT172):c.3821+5G>A
NM_015662.3(IFT172):c.3824G>A (p.Gly1275Asp)
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val) rs543062539
NM_015662.3(IFT172):c.3844C>A (p.Gln1282Lys) rs1665885295
NM_015662.3(IFT172):c.3855C>G (p.His1285Gln) rs776343273
NM_015662.3(IFT172):c.3866C>A (p.Ala1289Asp) rs768543764
NM_015662.3(IFT172):c.3871G>A (p.Glu1291Lys) rs1665880862
NM_015662.3(IFT172):c.3902A>G (p.Lys1301Arg)
NM_015662.3(IFT172):c.3910G>T (p.Asp1304Tyr)
NM_015662.3(IFT172):c.3921C>G (p.Asn1307Lys) rs377211687
NM_015662.3(IFT172):c.3925G>A (p.Gly1309Ser)
NM_015662.3(IFT172):c.3926G>A (p.Gly1309Asp)
NM_015662.3(IFT172):c.3951+2_3951+5dup rs2148485951
NM_015662.3(IFT172):c.3987A>T (p.Gln1329His) rs768705269
NM_015662.3(IFT172):c.3988C>A (p.Arg1330Ser) rs768990688
NM_015662.3(IFT172):c.4039A>G (p.Lys1347Glu)
NM_015662.3(IFT172):c.4046G>C (p.Ser1349Thr) rs762984875
NM_015662.3(IFT172):c.4050+2dup rs2148478879
NM_015662.3(IFT172):c.4117G>A (p.Glu1373Lys)
NM_015662.3(IFT172):c.4135C>T (p.Arg1379Cys)
NM_015662.3(IFT172):c.4161-11C>T
NM_015662.3(IFT172):c.4163A>G (p.Tyr1388Cys)
NM_015662.3(IFT172):c.4177G>A (p.Asp1393Asn)
NM_015662.3(IFT172):c.4179C>G (p.Asp1393Glu)
NM_015662.3(IFT172):c.4185T>G (p.His1395Gln) rs148360112
NM_015662.3(IFT172):c.4197C>A (p.Phe1399Leu)
NM_015662.3(IFT172):c.4208A>G (p.Gln1403Arg) rs1665458761
NM_015662.3(IFT172):c.4214A>G (p.Lys1405Arg)
NM_015662.3(IFT172):c.4264G>C (p.Val1422Leu)
NM_015662.3(IFT172):c.4279T>C (p.Trp1427Arg) rs1665443434
NM_015662.3(IFT172):c.4282G>A (p.Asp1428Asn) rs1665443007
NM_015662.3(IFT172):c.4288T>G (p.Cys1430Gly)
NM_015662.3(IFT172):c.429T>G (p.Asn143Lys)
NM_015662.3(IFT172):c.4300G>C (p.Ala1434Pro) rs1465201525
NM_015662.3(IFT172):c.4307A>G (p.Lys1436Arg) rs377646246
NM_015662.3(IFT172):c.4311+4C>T
NM_015662.3(IFT172):c.4311+6G>T rs1210994251
NM_015662.3(IFT172):c.4319A>G (p.Lys1440Arg)
NM_015662.3(IFT172):c.4346A>G (p.Tyr1449Cys)
NM_015662.3(IFT172):c.4387T>A (p.Leu1463Met)
NM_015662.3(IFT172):c.4412C>A (p.Ala1471Asp) rs1219587063
NM_015662.3(IFT172):c.4459G>A (p.Asp1487Asn) rs371807689
NM_015662.3(IFT172):c.4464G>A (p.Met1488Ile)
NM_015662.3(IFT172):c.4487G>A (p.Cys1496Tyr) rs149435148
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.4504A>T (p.Ser1502Cys)
NM_015662.3(IFT172):c.4507T>C (p.Trp1503Arg) rs1665288911
NM_015662.3(IFT172):c.4576C>G (p.Pro1526Ala)
NM_015662.3(IFT172):c.4577C>T (p.Pro1526Leu)
NM_015662.3(IFT172):c.4631G>A (p.Arg1544His)
NM_015662.3(IFT172):c.463G>A (p.Val155Met) rs149969430
NM_015662.3(IFT172):c.463G>C (p.Val155Leu) rs149969430
NM_015662.3(IFT172):c.4648G>A (p.Val1550Ile) rs779801761
NM_015662.3(IFT172):c.4656G>T (p.Gln1552His) rs530107456
NM_015662.3(IFT172):c.466G>T (p.Val156Leu) rs1401986067
NM_015662.3(IFT172):c.4676G>A (p.Arg1559Lys)
NM_015662.3(IFT172):c.4697G>A (p.Arg1566His)
NM_015662.3(IFT172):c.4703C>T (p.Thr1568Ile)
NM_015662.3(IFT172):c.4760T>C (p.Val1587Ala) rs1483735124
NM_015662.3(IFT172):c.4773C>G (p.Asn1591Lys) rs770759155
NM_015662.3(IFT172):c.4776G>A (p.Met1592Ile) rs1042644207
NM_015662.3(IFT172):c.4780T>C (p.Phe1594Leu)
NM_015662.3(IFT172):c.4874T>G (p.Ile1625Ser)
NM_015662.3(IFT172):c.4876_4878dup (p.Pro1626_Phe1627insPro) rs1437853998
NM_015662.3(IFT172):c.4891C>T (p.Leu1631Phe)
NM_015662.3(IFT172):c.4912C>T (p.Pro1638Ser)
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del) rs1664979213
NM_015662.3(IFT172):c.4944G>C (p.Trp1648Cys) rs1664978966
NM_015662.3(IFT172):c.495A>G (p.Lys165=) rs1202101296
NM_015662.3(IFT172):c.4988C>T (p.Pro1663Leu) rs1357445568
NM_015662.3(IFT172):c.4998G>T (p.Glu1666Asp) rs2148465651
NM_015662.3(IFT172):c.5015C>G (p.Ala1672Gly) rs2148465580
NM_015662.3(IFT172):c.5018C>T (p.Ser1673Phe)
NM_015662.3(IFT172):c.5036C>G (p.Thr1679Ser) rs2148465499
NM_015662.3(IFT172):c.5041G>A (p.Val1681Ile) rs763335302
NM_015662.3(IFT172):c.5044C>G (p.Arg1682Gly)
NM_015662.3(IFT172):c.5068+3A>G rs1664957671
NM_015662.3(IFT172):c.5080C>G (p.Leu1694Val)
NM_015662.3(IFT172):c.5093T>C (p.Ile1698Thr)
NM_015662.3(IFT172):c.509G>T (p.Gly170Val) rs770113267
NM_015662.3(IFT172):c.5105G>A (p.Arg1702Gln)
NM_015662.3(IFT172):c.5116G>A (p.Ala1706Thr)
NM_015662.3(IFT172):c.5120C>T (p.Ala1707Val)
NM_015662.3(IFT172):c.5159A>G (p.Lys1720Arg) rs755256585
NM_015662.3(IFT172):c.5160+6A>G rs2148464534
NM_015662.3(IFT172):c.5170A>G (p.Ser1724Gly) rs148800421
NM_015662.3(IFT172):c.518A>G (p.Asp173Gly)
NM_015662.3(IFT172):c.5204G>A (p.Ser1735Asn)
NM_015662.3(IFT172):c.5207_5209del (p.Gln1736_Trp1737delinsArg) rs2148462684
NM_015662.3(IFT172):c.5212T>G (p.Cys1738Gly) rs1664849569
NM_015662.3(IFT172):c.5228G>C (p.Ser1743Thr) rs2148462622
NM_015662.3(IFT172):c.5245C>G (p.Gln1749Glu) rs2148462534
NM_015662.3(IFT172):c.534G>C (p.Arg178Ser)
NM_015662.3(IFT172):c.570+3A>G
NM_015662.3(IFT172):c.571-3T>A
NM_015662.3(IFT172):c.571-3T>C
NM_015662.3(IFT172):c.589C>T (p.Pro197Ser) rs267599319
NM_015662.3(IFT172):c.5A>G (p.His2Arg)
NM_015662.3(IFT172):c.616G>A (p.Ala206Thr)
NM_015662.3(IFT172):c.619A>G (p.Thr207Ala)
NM_015662.3(IFT172):c.622A>G (p.Asn208Asp) rs909930223
NM_015662.3(IFT172):c.663C>G (p.Ala221=) rs2148550253
NM_015662.3(IFT172):c.682A>C (p.Met228Leu)
NM_015662.3(IFT172):c.702T>C (p.Tyr234=)
NM_015662.3(IFT172):c.706C>G (p.Arg236Gly) rs146290725
NM_015662.3(IFT172):c.722G>A (p.Arg241Gln)
NM_015662.3(IFT172):c.748C>G (p.Pro250Ala) rs1013134780
NM_015662.3(IFT172):c.763G>A (p.Val255Ile) rs2148549986
NM_015662.3(IFT172):c.786-6T>G
NM_015662.3(IFT172):c.78G>T (p.Gln26His)
NM_015662.3(IFT172):c.800A>G (p.Asn267Ser)
NM_015662.3(IFT172):c.839C>G (p.Pro280Arg) rs1279126964
NM_015662.3(IFT172):c.854A>G (p.Asn285Ser) rs975683128
NM_015662.3(IFT172):c.887G>A (p.Arg296Gln)
NM_015662.3(IFT172):c.909+11A>G
NM_015662.3(IFT172):c.909+3G>A rs2148547848
NM_015662.3(IFT172):c.911G>A (p.Gly304Asp) rs1553335843
NM_015662.3(IFT172):c.926G>A (p.Gly309Glu) rs749612277
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys) rs1002834084
NM_015662.3(IFT172):c.963T>G (p.Ile321Met)
NM_015662.3(IFT172):c.972C>A (p.Asn324Lys) rs370874046
NM_015662.3(IFT172):c.97G>C (p.Val33Leu) rs2148559931
NM_018051.5(DYNC2I1):c.1000G>A (p.Glu334Lys)
NM_018051.5(DYNC2I1):c.1003G>A (p.Glu335Lys)
NM_018051.5(DYNC2I1):c.1026G>C (p.Lys342Asn)
NM_018051.5(DYNC2I1):c.1084T>G (p.Leu362Val)
NM_018051.5(DYNC2I1):c.116A>G (p.Lys39Arg) rs528452983
NM_018051.5(DYNC2I1):c.1189A>T (p.Asn397Tyr)
NM_018051.5(DYNC2I1):c.1221A>C (p.Glu407Asp) rs1846346410
NM_018051.5(DYNC2I1):c.1267A>G (p.Ile423Val)
NM_018051.5(DYNC2I1):c.1483C>T (p.Arg495Trp)
NM_018051.5(DYNC2I1):c.1505C>T (p.Ser502Leu) rs776188298
NM_018051.5(DYNC2I1):c.1519C>G (p.Leu507Val) rs529737662
NM_018051.5(DYNC2I1):c.1600C>G (p.Gln534Glu)
NM_018051.5(DYNC2I1):c.1604G>A (p.Cys535Tyr) rs2129484911
NM_018051.5(DYNC2I1):c.162G>C (p.Glu54Asp)
NM_018051.5(DYNC2I1):c.1633C>G (p.Gln545Glu)
NM_018051.5(DYNC2I1):c.1637C>T (p.Thr546Met) rs1847645148
NM_018051.5(DYNC2I1):c.1703G>A (p.Gly568Asp)
NM_018051.5(DYNC2I1):c.1718A>G (p.Asp573Gly)
NM_018051.5(DYNC2I1):c.1721C>T (p.Thr574Ile) rs374402136
NM_018051.5(DYNC2I1):c.1744A>G (p.Lys582Glu)
NM_018051.5(DYNC2I1):c.1791+16A>G
NM_018051.5(DYNC2I1):c.1916T>C (p.Leu639Pro) rs761412635
NM_018051.5(DYNC2I1):c.1934CCT[1] (p.Ser646del) rs774798770
NM_018051.5(DYNC2I1):c.2024A>C (p.Lys675Thr)
NM_018051.5(DYNC2I1):c.2099C>T (p.Thr700Met)
NM_018051.5(DYNC2I1):c.2134C>G (p.Leu712Val)
NM_018051.5(DYNC2I1):c.2135T>C (p.Leu712Pro) rs2129486673
NM_018051.5(DYNC2I1):c.2143G>A (p.Gly715Arg)
NM_018051.5(DYNC2I1):c.2146A>T (p.Thr716Ser)
NM_018051.5(DYNC2I1):c.2153A>G (p.His718Arg) rs1400146732
NM_018051.5(DYNC2I1):c.2172G>C (p.Trp724Cys) rs1459822084
NM_018051.5(DYNC2I1):c.2236C>T (p.Arg746Trp)
NM_018051.5(DYNC2I1):c.2256C>T (p.Thr752=)
NM_018051.5(DYNC2I1):c.2257+5del rs1849333929
NM_018051.5(DYNC2I1):c.2257G>A (p.Asp753Asn)
NM_018051.5(DYNC2I1):c.2279A>C (p.Asn760Thr)
NM_018051.5(DYNC2I1):c.2318C>T (p.Thr773Met)
NM_018051.5(DYNC2I1):c.2347C>T (p.Leu783Phe)
NM_018051.5(DYNC2I1):c.2450C>T (p.Pro817Leu)
NM_018051.5(DYNC2I1):c.2461A>G (p.Ile821Val)
NM_018051.5(DYNC2I1):c.2638A>G (p.Thr880Ala) rs1850519978
NM_018051.5(DYNC2I1):c.2653A>G (p.Ile885Val)
NM_018051.5(DYNC2I1):c.2656A>G (p.Ser886Gly)
NM_018051.5(DYNC2I1):c.2663G>A (p.Gly888Asp) rs1850547827
NM_018051.5(DYNC2I1):c.2666C>T (p.Thr889Ile)
NM_018051.5(DYNC2I1):c.2719A>G (p.Ile907Val)
NM_018051.5(DYNC2I1):c.2726C>T (p.Pro909Leu)
NM_018051.5(DYNC2I1):c.2771T>C (p.Ile924Thr)
NM_018051.5(DYNC2I1):c.2872A>G (p.Thr958Ala)
NM_018051.5(DYNC2I1):c.2885G>T (p.Trp962Leu) rs774062652
NM_018051.5(DYNC2I1):c.2926A>G (p.Thr976Ala) rs1851430228
NM_018051.5(DYNC2I1):c.295C>T (p.Arg99Trp)
NM_018051.5(DYNC2I1):c.296G>C (p.Arg99Pro)
NM_018051.5(DYNC2I1):c.2999A>T (p.Asn1000Ile) rs749324450
NM_018051.5(DYNC2I1):c.3019G>A (p.Ala1007Thr)
NM_018051.5(DYNC2I1):c.3020C>T (p.Ala1007Val)
NM_018051.5(DYNC2I1):c.3086C>T (p.Ser1029Phe) rs1331796469
NM_018051.5(DYNC2I1):c.3177G>A (p.Trp1059Ter)
NM_018051.5(DYNC2I1):c.3184G>A (p.Gly1062Arg)
NM_018051.5(DYNC2I1):c.35C>T (p.Thr12Ile)
NM_018051.5(DYNC2I1):c.418C>G (p.His140Asp) rs1315103377
NM_018051.5(DYNC2I1):c.470C>T (p.Ala157Val)
NM_018051.5(DYNC2I1):c.485G>T (p.Arg162Leu)
NM_018051.5(DYNC2I1):c.500T>A (p.Val167Glu)
NM_018051.5(DYNC2I1):c.625G>C (p.Glu209Gln)
NM_018051.5(DYNC2I1):c.629_630delinsGC (p.Glu210Gly)
NM_018051.5(DYNC2I1):c.667C>G (p.Arg223Gly) rs760704544
NM_018051.5(DYNC2I1):c.691A>C (p.Ser231Arg)
NM_018051.5(DYNC2I1):c.701G>T (p.Arg234Met)
NM_018051.5(DYNC2I1):c.762A>C (p.Glu254Asp)
NM_018051.5(DYNC2I1):c.785AAG[1] (p.Glu263del)
NM_018051.5(DYNC2I1):c.822C>A (p.Ser274Arg) rs2129478812
NM_018051.5(DYNC2I1):c.829G>T (p.Asp277Tyr) rs2129478814
NM_018051.5(DYNC2I1):c.845C>T (p.Ser282Leu)
NM_018051.5(DYNC2I1):c.868A>G (p.Arg290Gly)
NM_018051.5(DYNC2I1):c.884G>C (p.Gly295Ala)
NM_018051.5(DYNC2I1):c.884G>T (p.Gly295Val)
NM_018051.5(DYNC2I1):c.923G>T (p.Gly308Val)
NM_018051.5(DYNC2I1):c.925A>T (p.Thr309Ser)
NM_018051.5(DYNC2I1):c.955A>G (p.Arg319Gly)
NM_020779.4(WDR35):c.100G>A (p.Glu34Lys) rs1572375239
NM_020779.4(WDR35):c.1040C>A (p.Ala347Glu) rs1228739567
NM_020779.4(WDR35):c.1058G>A (p.Arg353His)
NM_020779.4(WDR35):c.1082G>T (p.Trp361Leu) rs2103444974
NM_020779.4(WDR35):c.1228C>T (p.Pro410Ser)
NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu) rs368497711
NM_020779.4(WDR35):c.1366C>G (p.Gln456Glu)
NM_020779.4(WDR35):c.1392G>T (p.Gly464=) rs1476590827
NM_020779.4(WDR35):c.1400+6del
NM_020779.4(WDR35):c.141A>G (p.Thr47=)
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys) rs1462353387
NM_020779.4(WDR35):c.1540A>G (p.Thr514Ala) rs2103417008
NM_020779.4(WDR35):c.1570G>A (p.Gly524Ser) rs2103416923
NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu)
NM_020779.4(WDR35):c.1846-7T>A rs1479233566
NM_020779.4(WDR35):c.1866A>G (p.Gly622=) rs2103410659
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)
NM_020779.4(WDR35):c.1937A>G (p.His646Arg)
NM_020779.4(WDR35):c.1954C>G (p.Leu652Val)
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)
NM_020779.4(WDR35):c.2029C>G (p.Gln677Glu) rs775076264
NM_020779.4(WDR35):c.2116C>A (p.Gln706Lys) rs2103405475
NM_020779.4(WDR35):c.2129G>A (p.Arg710His) rs370797645
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) rs370797645
NM_020779.4(WDR35):c.2135A>G (p.Lys712Arg)
NM_020779.4(WDR35):c.2149A>C (p.Ile717Leu) rs144493712
NM_020779.4(WDR35):c.2191A>G (p.Met731Val)
NM_020779.4(WDR35):c.2193G>C (p.Met731Ile)
NM_020779.4(WDR35):c.2213G>T (p.Gly738Val)
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)
NM_020779.4(WDR35):c.2272C>G (p.Leu758Val) rs1670697417
NM_020779.4(WDR35):c.2288G>A (p.Arg763Gln) rs1670696748
NM_020779.4(WDR35):c.2356A>C (p.Ser786Arg) rs748153278
NM_020779.4(WDR35):c.2358T>A (p.Ser786Arg)
NM_020779.4(WDR35):c.2408A>G (p.Gln803Arg) rs2103403345
NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)
NM_020779.4(WDR35):c.2559A>T (p.Gln853His)
NM_020779.4(WDR35):c.2575G>C (p.Gly859Arg) rs2103399882
NM_020779.4(WDR35):c.259A>T (p.Thr87Ser) rs2103463081
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val) rs1670554390
NM_020779.4(WDR35):c.2746A>G (p.Lys916Glu) rs2103398404
NM_020779.4(WDR35):c.2798T>C (p.Phe933Ser) rs2103398314
NM_020779.4(WDR35):c.2800G>A (p.Asp934Asn) rs376786810
NM_020779.4(WDR35):c.2823+6_2823+298delinsAAA
NM_020779.4(WDR35):c.2823G>A (p.Lys941=) rs2103398260
NM_020779.4(WDR35):c.2856A>G (p.Lys952=) rs755843830
NM_020779.4(WDR35):c.2960C>T (p.Ser987Leu) rs750968053
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala) rs1184414721
NM_020779.4(WDR35):c.297G>A (p.Met99Ile) rs779065567
NM_020779.4(WDR35):c.2980G>T (p.Ala994Ser)
NM_020779.4(WDR35):c.2993AAG[2] (p.Glu1000del) rs746953019
NM_020779.4(WDR35):c.3026C>T (p.Thr1009Ile) rs201153804
NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro)
NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)
NM_020779.4(WDR35):c.3162G>A (p.Val1054=) rs2103378366
NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)
NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu)
NM_020779.4(WDR35):c.3340G>A (p.Glu1114Lys) rs2103378015
NM_020779.4(WDR35):c.3362+6C>T
NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg) rs1558317812
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu) rs1558317742
NM_020779.4(WDR35):c.3427A>T (p.Met1143Leu)
NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg)
NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)
NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe)
NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg)
NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)
NM_020779.4(WDR35):c.376G>A (p.Asp126Asn)
NM_020779.4(WDR35):c.436+4A>G rs1672290200
NM_020779.4(WDR35):c.442C>T (p.Arg148Cys)
NM_020779.4(WDR35):c.496G>A (p.Ala166Thr)
NM_020779.4(WDR35):c.497C>T (p.Ala166Val) rs374556044
NM_020779.4(WDR35):c.613A>G (p.Ile205Val)
NM_020779.4(WDR35):c.629T>C (p.Ile210Thr)
NM_020779.4(WDR35):c.658G>T (p.Val220Leu)
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala) rs1553322982
NM_020779.4(WDR35):c.717G>A (p.Met239Ile)
NM_020779.4(WDR35):c.837G>C (p.Gln279His) rs764069624
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)
NM_020779.4(WDR35):c.920C>T (p.Ser307Phe)
NM_020800.3(IFT80):c.1001G>A (p.Arg334His)
NM_020800.3(IFT80):c.1009G>A (p.Val337Ile) rs1226978230
NM_020800.3(IFT80):c.1028A>T (p.Asn343Ile)
NM_020800.3(IFT80):c.1030T>C (p.Tyr344His) rs2108277043
NM_020800.3(IFT80):c.1060C>A (p.Gln354Lys)
NM_020800.3(IFT80):c.1076+6C>A rs1478232526
NM_020800.3(IFT80):c.1094C>T (p.Thr365Ile) rs2108271630
NM_020800.3(IFT80):c.1102A>G (p.Ile368Val)
NM_020800.3(IFT80):c.1104A>G (p.Ile368Met) rs369114064
NM_020800.3(IFT80):c.1115A>G (p.Lys372Arg) rs2108271596
NM_020800.3(IFT80):c.1126G>A (p.Val376Ile) rs753617262
NM_020800.3(IFT80):c.1129A>G (p.Ser377Gly)
NM_020800.3(IFT80):c.1150A>G (p.Arg384Gly)
NM_020800.3(IFT80):c.118T>A (p.Trp40Arg)
NM_020800.3(IFT80):c.1198G>A (p.Glu400Lys)
NM_020800.3(IFT80):c.1208T>G (p.Phe403Cys) rs142536602
NM_020800.3(IFT80):c.1222A>G (p.Lys408Glu) rs776006563
NM_020800.3(IFT80):c.1229C>A (p.Pro410His) rs148396265
NM_020800.3(IFT80):c.1229C>G (p.Pro410Arg)
NM_020800.3(IFT80):c.1283C>A (p.Thr428Asn) rs770394750
NM_020800.3(IFT80):c.1285A>G (p.Ile429Val)
NM_020800.3(IFT80):c.1286T>C (p.Ile429Thr) rs2108267139
NM_020800.3(IFT80):c.1287A>G (p.Ile429Met)
NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr) rs1716375276
NM_020800.3(IFT80):c.1291A>G (p.Ile431Val)
NM_020800.3(IFT80):c.1295G>C (p.Arg432Thr) rs1716374436
NM_020800.3(IFT80):c.1297G>A (p.Asp433Asn) rs527756323
NM_020800.3(IFT80):c.1319T>C (p.Ile440Thr)
NM_020800.3(IFT80):c.131C>A (p.Thr44Asn) rs1712527833
NM_020800.3(IFT80):c.1324C>T (p.Leu442Phe) rs2108240755
NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala) rs1715048069
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val) rs1715047540
NM_020800.3(IFT80):c.1354G>A (p.Gly452Ser) rs1424771271
NM_020800.3(IFT80):c.135T>G (p.Ser45Arg) rs762238566
NM_020800.3(IFT80):c.1389_1397del (p.Leu464_Ile466del) rs752515612
NM_020800.3(IFT80):c.1405G>T (p.Asp469Tyr) rs1210834952
NM_020800.3(IFT80):c.1420A>G (p.Thr474Ala) rs750126857
NM_020800.3(IFT80):c.142A>G (p.Thr48Ala) rs2108404384
NM_020800.3(IFT80):c.1436T>A (p.Ile479Asn) rs1714767611
NM_020800.3(IFT80):c.1452A>T (p.Lys484Asn) rs1714765993
NM_020800.3(IFT80):c.1468A>G (p.Ile490Val) rs1559917807
NM_020800.3(IFT80):c.1484G>A (p.Arg495Gln)
NM_020800.3(IFT80):c.1486T>C (p.Phe496Leu)
NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys) rs555093543
NM_020800.3(IFT80):c.1507A>G (p.Ile503Val)
NM_020800.3(IFT80):c.1512G>T (p.Lys504Asn) rs772287249
NM_020800.3(IFT80):c.1520C>T (p.Thr507Ile) rs2108231550
NM_020800.3(IFT80):c.1525G>A (p.Val509Met) rs758912357
NM_020800.3(IFT80):c.1525G>T (p.Val509Leu) rs758912357
NM_020800.3(IFT80):c.1549A>G (p.Thr517Ala)
NM_020800.3(IFT80):c.1550C>T (p.Thr517Ile) rs1408265295
NM_020800.3(IFT80):c.1556A>G (p.Asn519Ser) rs1714628390
NM_020800.3(IFT80):c.156G>C (p.Lys52Asn)
NM_020800.3(IFT80):c.1583G>A (p.Arg528Gln)
NM_020800.3(IFT80):c.1624A>G (p.Arg542Gly)
NM_020800.3(IFT80):c.1625G>A (p.Arg542Lys) rs1027265275
NM_020800.3(IFT80):c.1655G>C (p.Arg552Thr)
NM_020800.3(IFT80):c.1694G>A (p.Ser565Asn) rs1714507782
NM_020800.3(IFT80):c.1717A>G (p.Ile573Val) rs371520687
NM_020800.3(IFT80):c.1726G>A (p.Ala576Thr) rs1714506395
NM_020800.3(IFT80):c.1753A>T (p.Ile585Leu) rs864622337
NM_020800.3(IFT80):c.1775T>C (p.Leu592Pro) rs2108229016
NM_020800.3(IFT80):c.1777C>T (p.His593Tyr)
NM_020800.3(IFT80):c.1836G>A (p.Lys612=) rs758317567
NM_020800.3(IFT80):c.1837-3T>C rs1714373421
NM_020800.3(IFT80):c.1837G>A (p.Glu613Lys)
NM_020800.3(IFT80):c.1847T>C (p.Met616Thr)
NM_020800.3(IFT80):c.1868T>C (p.Met623Thr) rs1441644666
NM_020800.3(IFT80):c.1891A>G (p.Thr631Ala)
NM_020800.3(IFT80):c.1907C>T (p.Ala636Val)
NM_020800.3(IFT80):c.1913C>G (p.Ala638Gly) rs751685555
NM_020800.3(IFT80):c.1918A>G (p.Ile640Val)
NM_020800.3(IFT80):c.1922G>C (p.Gly641Ala) rs758343586
NM_020800.3(IFT80):c.1926+9T>G
NM_020800.3(IFT80):c.1936G>A (p.Val646Ile)
NM_020800.3(IFT80):c.1936G>C (p.Val646Leu) rs752617502
NM_020800.3(IFT80):c.1936G>T (p.Val646Phe) rs752617502
NM_020800.3(IFT80):c.1949A>G (p.Asn650Ser)
NM_020800.3(IFT80):c.1954A>T (p.Ile652Leu)
NM_020800.3(IFT80):c.1993A>G (p.Ile665Val)
NM_020800.3(IFT80):c.2020G>A (p.Glu674Lys)
NM_020800.3(IFT80):c.2028A>C (p.Glu676Asp) rs1714347314
NM_020800.3(IFT80):c.2033T>G (p.Val678Gly) rs762893736
NM_020800.3(IFT80):c.206T>G (p.Leu69Trp) rs2108404301
NM_020800.3(IFT80):c.207G>A (p.Leu69=) rs2108404298
NM_020800.3(IFT80):c.2083C>G (p.Leu695Val)
NM_020800.3(IFT80):c.2086T>C (p.Tyr696His)
NM_020800.3(IFT80):c.2094G>C (p.Trp698Cys) rs1273119646
NM_020800.3(IFT80):c.2099G>A (p.Arg700Lys)
NM_020800.3(IFT80):c.2132A>G (p.His711Arg)
NM_020800.3(IFT80):c.2138A>G (p.Asp713Gly) rs1713528985
NM_020800.3(IFT80):c.2174C>T (p.Thr725Ile) rs997566753
NM_020800.3(IFT80):c.2215G>A (p.Ala739Thr) rs2108209837
NM_020800.3(IFT80):c.2223+4_2223+7del rs751433239
NM_020800.3(IFT80):c.2282G>C (p.Arg761Thr) rs112640410
NM_020800.3(IFT80):c.2302C>T (p.Gln768Ter) rs778690591
NM_020800.3(IFT80):c.230C>A (p.Ala77Glu) rs866504439
NM_020800.3(IFT80):c.2318T>C (p.Ile773Thr)
NM_020800.3(IFT80):c.2329C>T (p.Pro777Ser)
NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys) rs1712517309
NM_020800.3(IFT80):c.266T>C (p.Phe89Ser) rs965701938
NM_020800.3(IFT80):c.301A>G (p.Ser101Gly)
NM_020800.3(IFT80):c.304G>A (p.Val102Ile)
NM_020800.3(IFT80):c.317G>C (p.Cys106Ser)
NM_020800.3(IFT80):c.331G>A (p.Ala111Thr) rs1712114570
NM_020800.3(IFT80):c.335G>A (p.Gly112Glu) rs1712113940
NM_020800.3(IFT80):c.37+6C>A rs865963221
NM_020800.3(IFT80):c.379G>T (p.Asp127Tyr) rs1711973722
NM_020800.3(IFT80):c.37C>G (p.His13Asp)
NM_020800.3(IFT80):c.403A>C (p.Lys135Gln)
NM_020800.3(IFT80):c.437A>G (p.Gln146Arg) rs2108394316
NM_020800.3(IFT80):c.440-18T>A
NM_020800.3(IFT80):c.448G>C (p.Val150Leu) rs1721845305
NM_020800.3(IFT80):c.469C>A (p.Pro157Thr) rs1721843816
NM_020800.3(IFT80):c.48A>T (p.Leu16Phe) rs2108404512
NM_020800.3(IFT80):c.514A>G (p.Ile172Val) rs2108377832
NM_020800.3(IFT80):c.515T>A (p.Ile172Asn) rs1215757424
NM_020800.3(IFT80):c.548A>T (p.Gln183Leu)
NM_020800.3(IFT80):c.559C>T (p.His187Tyr)
NM_020800.3(IFT80):c.593C>T (p.Ser198Leu)
NM_020800.3(IFT80):c.601G>T (p.Asp201Tyr)
NM_020800.3(IFT80):c.612A>T (p.Leu204Phe) rs1359553849
NM_020800.3(IFT80):c.625G>T (p.Asp209Tyr) rs2108362446
NM_020800.3(IFT80):c.627C>A (p.Asp209Glu)
NM_020800.3(IFT80):c.640-3T>G rs1270725764
NM_020800.3(IFT80):c.640G>A (p.Val214Ile) rs1026071746
NM_020800.3(IFT80):c.64T>C (p.Trp22Arg) rs140499147
NM_020800.3(IFT80):c.650G>A (p.Ser217Asn)
NM_020800.3(IFT80):c.686A>C (p.Glu229Ala) rs1305518301
NM_020800.3(IFT80):c.698C>A (p.Thr233Asn) rs1242544327
NM_020800.3(IFT80):c.719A>C (p.Asp240Ala)
NM_020800.3(IFT80):c.736G>C (p.Val246Leu)
NM_020800.3(IFT80):c.743C>G (p.Ser248Trp) rs754764834
NM_020800.3(IFT80):c.748C>T (p.His250Tyr) rs1721060438
NM_020800.3(IFT80):c.749A>T (p.His250Leu)
NM_020800.3(IFT80):c.751A>T (p.Thr251Ser) rs2108360118
NM_020800.3(IFT80):c.760T>G (p.Leu254Val)
NM_020800.3(IFT80):c.763T>C (p.Cys255Arg) rs2108360083
NM_020800.3(IFT80):c.764G>T (p.Cys255Phe) rs1325257224
NM_020800.3(IFT80):c.769A>G (p.Lys257Glu) rs1273801158
NM_020800.3(IFT80):c.777+19C>T
NM_020800.3(IFT80):c.777+5G>A rs2108360069
NM_020800.3(IFT80):c.824T>C (p.Ile275Thr)
NM_020800.3(IFT80):c.825T>G (p.Ile275Met)
NM_020800.3(IFT80):c.895G>A (p.Val299Met) rs1718074496
NM_020800.3(IFT80):c.896T>C (p.Val299Ala)
NM_020800.3(IFT80):c.92G>A (p.Cys31Tyr) rs2108404468
NM_020800.3(IFT80):c.949G>A (p.Ala317Thr)
NM_020800.3(IFT80):c.950C>A (p.Ala317Asp) rs1718070568
NM_020800.3(IFT80):c.952A>T (p.Met318Leu) rs1718070417
NM_020800.3(IFT80):c.956A>G (p.Gln319Arg) rs1718070086
NM_020800.3(IFT80):c.962G>A (p.Arg321His) rs766354291
NM_024753.5(TTC21B):c.1010A>G (p.Gln337Arg)
NM_024753.5(TTC21B):c.1040A>G (p.Tyr347Cys)
NM_024753.5(TTC21B):c.1048G>A (p.Ala350Thr) rs752711108
NM_024753.5(TTC21B):c.1048G>T (p.Ala350Ser) rs752711108
NM_024753.5(TTC21B):c.1057C>G (p.Leu353Val)
NM_024753.5(TTC21B):c.1061A>G (p.Asp354Gly) rs902487352
NM_024753.5(TTC21B):c.1067C>T (p.Thr356Ile)
NM_024753.5(TTC21B):c.1083A>G (p.Leu361=)
NM_024753.5(TTC21B):c.1087+3A>G
NM_024753.5(TTC21B):c.1103A>T (p.Gln368Leu)
NM_024753.5(TTC21B):c.1113A>T (p.Glu371Asp)
NM_024753.5(TTC21B):c.1154A>G (p.Asn385Ser)
NM_024753.5(TTC21B):c.1155T>A (p.Asn385Lys) rs2105343770
NM_024753.5(TTC21B):c.1172T>C (p.Ile391Thr)
NM_024753.5(TTC21B):c.1181C>G (p.Ser394Cys) rs748339995
NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe) rs748339995
NM_024753.5(TTC21B):c.1185G>A (p.Ala395=) rs747042147
NM_024753.5(TTC21B):c.119G>A (p.Arg40Lys)
NM_024753.5(TTC21B):c.119G>C (p.Arg40Thr) rs1687700084
NM_024753.5(TTC21B):c.11A>C (p.Gln4Pro)
NM_024753.5(TTC21B):c.1201C>A (p.His401Asn) rs768881808
NM_024753.5(TTC21B):c.1202A>G (p.His401Arg) rs780159682
NM_024753.5(TTC21B):c.1218G>T (p.Met406Ile)
NM_024753.5(TTC21B):c.1222A>G (p.Lys408Glu) rs2105343236
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly) rs185089786
NM_024753.5(TTC21B):c.1232_1234del (p.Arg411del) rs768933427
NM_024753.5(TTC21B):c.1234C>G (p.Gln412Glu) rs2105343199
NM_024753.5(TTC21B):c.1240G>A (p.Glu414Lys)
NM_024753.5(TTC21B):c.1273A>G (p.Thr425Ala)
NM_024753.5(TTC21B):c.1276C>G (p.His426Asp)
NM_024753.5(TTC21B):c.1292_1294del (p.Glu431del)
NM_024753.5(TTC21B):c.1339T>G (p.Phe447Val)
NM_024753.5(TTC21B):c.1358T>G (p.Met453Arg)
NM_024753.5(TTC21B):c.1396C>T (p.Pro466Ser) rs956461172
NM_024753.5(TTC21B):c.1415C>T (p.Pro472Leu)
NM_024753.5(TTC21B):c.1432A>G (p.Ile478Val) rs948455096
NM_024753.5(TTC21B):c.1438G>A (p.Val480Ile)
NM_024753.5(TTC21B):c.1443G>A (p.Leu481=)
NM_024753.5(TTC21B):c.1490T>C (p.Leu497Pro)
NM_024753.5(TTC21B):c.1512G>T (p.Leu504Phe)
NM_024753.5(TTC21B):c.1523T>C (p.Ile508Thr) rs769248659
NM_024753.5(TTC21B):c.1537A>G (p.Asn513Asp) rs939423391
NM_024753.5(TTC21B):c.1561C>T (p.His521Tyr)
NM_024753.5(TTC21B):c.1598C>A (p.Ala533Asp)
NM_024753.5(TTC21B):c.1621A>G (p.Lys541Glu) rs2105329308
NM_024753.5(TTC21B):c.1654T>C (p.Cys552Arg)
NM_024753.5(TTC21B):c.1674G>A (p.Lys558=)
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly) rs1354455514
NM_024753.5(TTC21B):c.1714T>C (p.Ser572Pro) rs2105327024
NM_024753.5(TTC21B):c.1739C>T (p.Ala580Val)
NM_024753.5(TTC21B):c.1744G>A (p.Ala582Thr) rs755056642
NM_024753.5(TTC21B):c.1756C>A (p.Leu586Met) rs1686216272
NM_024753.5(TTC21B):c.1774T>G (p.Leu592Val)
NM_024753.5(TTC21B):c.1785G>T (p.Met595Ile)
NM_024753.5(TTC21B):c.1790G>T (p.Arg597Ile)
NM_024753.5(TTC21B):c.1801T>C (p.Ser601Pro) rs1686214416
NM_024753.5(TTC21B):c.1807A>G (p.Lys603Glu)
NM_024753.5(TTC21B):c.1816G>A (p.Asp606Asn)
NM_024753.5(TTC21B):c.1832T>C (p.Val611Ala)
NM_024753.5(TTC21B):c.1836T>A (p.Asp612Glu)
NM_024753.5(TTC21B):c.187A>G (p.Ile63Val)
NM_024753.5(TTC21B):c.1883G>T (p.Arg628Leu)
NM_024753.5(TTC21B):c.1906G>A (p.Ala636Thr)
NM_024753.5(TTC21B):c.1927G>A (p.Ala643Thr)
NM_024753.5(TTC21B):c.1937A>T (p.Glu646Val) rs1376184705
NM_024753.5(TTC21B):c.1960G>A (p.Val654Met)
NM_024753.5(TTC21B):c.1972A>G (p.Ile658Val)
NM_024753.5(TTC21B):c.1972A>T (p.Ile658Phe) rs2105324307
NM_024753.5(TTC21B):c.2005G>C (p.Asp669His) rs1406594364
NM_024753.5(TTC21B):c.2009T>C (p.Ile670Thr) rs778504663
NM_024753.5(TTC21B):c.2011G>C (p.Glu671Gln)
NM_024753.5(TTC21B):c.2015G>C (p.Arg672Pro) rs756604135
NM_024753.5(TTC21B):c.2026A>G (p.Ile676Val) rs2105324144
NM_024753.5(TTC21B):c.202G>T (p.Asp68Tyr) rs1242719645
NM_024753.5(TTC21B):c.2047G>A (p.Glu683Lys)
NM_024753.5(TTC21B):c.205G>A (p.Val69Ile)
NM_024753.5(TTC21B):c.2074G>C (p.Glu692Gln) rs1686122784
NM_024753.5(TTC21B):c.2095C>G (p.Leu699Val) rs200182771
NM_024753.5(TTC21B):c.21+5_21+6insGGTGAGTG
NM_024753.5(TTC21B):c.21+9_21+10insGAGCGGGC
NM_024753.5(TTC21B):c.2101C>G (p.His701Asp)
NM_024753.5(TTC21B):c.2117T>G (p.Met706Arg) rs2105323931
NM_024753.5(TTC21B):c.2118G>A (p.Met706Ile)
NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala) rs1457311503
NM_024753.5(TTC21B):c.2135T>C (p.Phe712Ser)
NM_024753.5(TTC21B):c.2138+5G>C rs1574099823
NM_024753.5(TTC21B):c.2156T>C (p.Met719Thr) rs2105321275
NM_024753.5(TTC21B):c.2179C>T (p.Leu727Phe) rs1214420591
NM_024753.5(TTC21B):c.2180T>C (p.Leu727Pro)
NM_024753.5(TTC21B):c.2197A>G (p.Met733Val)
NM_024753.5(TTC21B):c.2211G>A (p.Glu737=)
NM_024753.5(TTC21B):c.2233T>G (p.Tyr745Asp)
NM_024753.5(TTC21B):c.223C>T (p.Leu75Phe)
NM_024753.5(TTC21B):c.2251C>G (p.Gln751Glu)
NM_024753.5(TTC21B):c.2263G>T (p.Asp755Tyr)
NM_024753.5(TTC21B):c.2288G>A (p.Gly763Asp)
NM_024753.5(TTC21B):c.2309A>G (p.His770Arg)
NM_024753.5(TTC21B):c.2323-18G>A
NM_024753.5(TTC21B):c.2357G>T (p.Gly786Val)
NM_024753.5(TTC21B):c.2360A>C (p.Gln787Pro)
NM_024753.5(TTC21B):c.2368T>C (p.Tyr790His) rs910370044
NM_024753.5(TTC21B):c.2393_2394delinsAA (p.Leu798Gln) rs2105318301
NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys) rs1685925745
NM_024753.5(TTC21B):c.2414A>G (p.Tyr805Cys)
NM_024753.5(TTC21B):c.242A>C (p.His81Pro) rs1687690052
NM_024753.5(TTC21B):c.242A>G (p.His81Arg)
NM_024753.5(TTC21B):c.244A>C (p.Lys82Gln) rs774744374
NM_024753.5(TTC21B):c.2471T>G (p.Leu824Arg)
NM_024753.5(TTC21B):c.2479C>G (p.Leu827Val)
NM_024753.5(TTC21B):c.2491G>A (p.Gly831Arg)
NM_024753.5(TTC21B):c.2497T>C (p.Cys833Arg) rs1685788738
NM_024753.5(TTC21B):c.2564A>G (p.Gln855Arg) rs2105313560
NM_024753.5(TTC21B):c.2568+6C>G rs2105313543
NM_024753.5(TTC21B):c.2575G>A (p.Glu859Lys) rs2105306427
NM_024753.5(TTC21B):c.258T>G (p.Asn86Lys) rs2105370137
NM_024753.5(TTC21B):c.2590G>A (p.Val864Ile)
NM_024753.5(TTC21B):c.2599C>A (p.Arg867Ser)
NM_024753.5(TTC21B):c.259C>G (p.Pro87Ala)
NM_024753.5(TTC21B):c.262+4T>C
NM_024753.5(TTC21B):c.2627T>A (p.Val876Asp)
NM_024753.5(TTC21B):c.262G>C (p.Asp88His)
NM_024753.5(TTC21B):c.2671G>A (p.Ala891Thr)
NM_024753.5(TTC21B):c.2683G>C (p.Val895Leu)
NM_024753.5(TTC21B):c.2686G>T (p.Ala896Ser)
NM_024753.5(TTC21B):c.2687C>T (p.Ala896Val) rs768486051
NM_024753.5(TTC21B):c.2698T>C (p.Tyr900His) rs1336338964
NM_024753.5(TTC21B):c.2710A>G (p.Ile904Val)
NM_024753.5(TTC21B):c.2720A>G (p.Tyr907Cys)
NM_024753.5(TTC21B):c.2734G>A (p.Val912Ile) rs756613993
NM_024753.5(TTC21B):c.2745_2750del (p.Glu915_Thr916del) rs2105306008
NM_024753.5(TTC21B):c.2747C>G (p.Thr916Arg) rs781416133
NM_024753.5(TTC21B):c.2760T>G (p.Ile920Met)
NM_024753.5(TTC21B):c.2777G>C (p.Arg926Pro) rs747246700
NM_024753.5(TTC21B):c.2777_2791del (p.Arg926_Ala930del) rs757389950
NM_024753.5(TTC21B):c.2788G>A (p.Ala930Thr) rs1685493323
NM_024753.5(TTC21B):c.2814_2815delinsAA (p.Leu938_Arg939=) rs2105303218
NM_024753.5(TTC21B):c.2854G>A (p.Glu952Lys)
NM_024753.5(TTC21B):c.2864C>T (p.Thr955Ile) rs1443929851
NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu) rs1010771919
NM_024753.5(TTC21B):c.2886G>T (p.Met962Ile)
NM_024753.5(TTC21B):c.2920C>G (p.His974Asp) rs1254330391
NM_024753.5(TTC21B):c.2921A>G (p.His974Arg) rs1311327616
NM_024753.5(TTC21B):c.2959A>G (p.Met987Val) rs889749746
NM_024753.5(TTC21B):c.2962A>G (p.Thr988Ala)
NM_024753.5(TTC21B):c.2975T>C (p.Leu992Ser) rs995750441
NM_024753.5(TTC21B):c.2990G>A (p.Arg997Lys) rs2105292122
NM_024753.5(TTC21B):c.2993G>T (p.Arg998Ile) rs189561071
NM_024753.5(TTC21B):c.2994A>G (p.Arg998=) rs2105292113
NM_024753.5(TTC21B):c.2995T>C (p.Cys999Arg)
NM_024753.5(TTC21B):c.2996G>T (p.Cys999Phe)
NM_024753.5(TTC21B):c.2999G>A (p.Gly1000Glu)
NM_024753.5(TTC21B):c.3007G>A (p.Glu1003Lys)
NM_024753.5(TTC21B):c.3011A>T (p.Asp1004Val)
NM_024753.5(TTC21B):c.3016C>G (p.Pro1006Ala)
NM_024753.5(TTC21B):c.301G>C (p.Glu101Gln)
NM_024753.5(TTC21B):c.3038A>C (p.Glu1013Ala)
NM_024753.5(TTC21B):c.3048C>G (p.Asn1016Lys) rs1685165771
NM_024753.5(TTC21B):c.3077A>G (p.Gln1026Arg) rs753645075
NM_024753.5(TTC21B):c.3101+4A>G rs2105291943
NM_024753.5(TTC21B):c.3119A>G (p.Asn1040Ser) rs2105291721
NM_024753.5(TTC21B):c.3121G>A (p.Asp1041Asn) rs2105291718
NM_024753.5(TTC21B):c.3142A>G (p.Lys1048Glu)
NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln) rs144103331
NM_024753.5(TTC21B):c.3160G>A (p.Asp1054Asn)
NM_024753.5(TTC21B):c.3167G>A (p.Gly1056Asp)
NM_024753.5(TTC21B):c.3185A>C (p.Asn1062Thr) rs1477708117
NM_024753.5(TTC21B):c.3191T>C (p.Ile1064Thr)
NM_024753.5(TTC21B):c.3195G>T (p.Glu1065Asp) rs1574070858
NM_024753.5(TTC21B):c.3217G>A (p.Glu1073Lys)
NM_024753.5(TTC21B):c.3338C>T (p.Pro1113Leu)
NM_024753.5(TTC21B):c.3344C>A (p.Thr1115Asn) rs1307274284
NM_024753.5(TTC21B):c.3350A>T (p.Gln1117Leu) rs148631747
NM_024753.5(TTC21B):c.3368G>A (p.Arg1123His)
NM_024753.5(TTC21B):c.3370A>G (p.Ile1124Val)
NM_024753.5(TTC21B):c.3448G>A (p.Ala1150Thr)
NM_024753.5(TTC21B):c.3448GCA[1] (p.Ala1151del)
NM_024753.5(TTC21B):c.3451G>A (p.Ala1151Thr)
NM_024753.5(TTC21B):c.3459+5G>T rs1380985852
NM_024753.5(TTC21B):c.3460-5del
NM_024753.5(TTC21B):c.3466C>T (p.His1156Tyr)
NM_024753.5(TTC21B):c.3467A>G (p.His1156Arg)
NM_024753.5(TTC21B):c.3475G>A (p.Ala1159Thr) rs2105284735
NM_024753.5(TTC21B):c.347T>C (p.Leu116Ser)
NM_024753.5(TTC21B):c.3487A>G (p.Met1163Val)
NM_024753.5(TTC21B):c.3488T>A (p.Met1163Lys)
NM_024753.5(TTC21B):c.3490G>A (p.Ala1164Thr) rs374018043
NM_024753.5(TTC21B):c.3505A>T (p.Ile1169Phe)
NM_024753.5(TTC21B):c.3523C>G (p.Arg1175Gly)
NM_024753.5(TTC21B):c.3536A>G (p.Gln1179Arg) rs745900529
NM_024753.5(TTC21B):c.3539T>C (p.Leu1180Pro)
NM_024753.5(TTC21B):c.3551C>G (p.Ala1184Gly)
NM_024753.5(TTC21B):c.3562T>C (p.Trp1188Arg)
NM_024753.5(TTC21B):c.3589G>C (p.Glu1197Gln)
NM_024753.5(TTC21B):c.3614A>G (p.Asp1205Gly) rs2105284491
NM_024753.5(TTC21B):c.3644T>C (p.Met1215Thr)
NM_024753.5(TTC21B):c.3665G>A (p.Arg1222Gln)
NM_024753.5(TTC21B):c.368G>T (p.Arg123Leu) rs370484375
NM_024753.5(TTC21B):c.3697G>C (p.Ala1233Pro)
NM_024753.5(TTC21B):c.3723G>A (p.Met1241Ile) rs2105281084
NM_024753.5(TTC21B):c.3740A>G (p.Tyr1247Cys)
NM_024753.5(TTC21B):c.3742A>T (p.Thr1248Ser) rs1684808847
NM_024753.5(TTC21B):c.3767T>C (p.Met1256Thr) rs2105281020
NM_024753.5(TTC21B):c.3770C>A (p.Ala1257Glu)
NM_024753.5(TTC21B):c.3782G>A (p.Ser1261Asn) rs371730439
NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile) rs371730439
NM_024753.5(TTC21B):c.3802G>A (p.Val1268Ile)
NM_024753.5(TTC21B):c.3806-18T>C
NM_024753.5(TTC21B):c.3809A>G (p.Tyr1270Cys)
NM_024753.5(TTC21B):c.3843A>G (p.Arg1281=)
NM_024753.5(TTC21B):c.3857T>C (p.Ile1286Thr)
NM_024753.5(TTC21B):c.389A>C (p.Tyr130Ser)
NM_024753.5(TTC21B):c.3914A>T (p.Asp1305Val) rs147540469
NM_024753.5(TTC21B):c.3932G>T (p.Arg1311Leu) rs139327086
NM_024753.5(TTC21B):c.3935C>T (p.Ala1312Val)
NM_024753.5(TTC21B):c.3947C>T (p.Pro1316Leu) rs2105274076
NM_024753.5(TTC21B):c.407A>G (p.Lys136Arg)
NM_024753.5(TTC21B):c.40T>C (p.Cys14Arg)
NM_024753.5(TTC21B):c.40T>G (p.Cys14Gly) rs780354129
NM_024753.5(TTC21B):c.410T>C (p.Ile137Thr)
NM_024753.5(TTC21B):c.411A>G (p.Ile137Met)
NM_024753.5(TTC21B):c.422G>A (p.Ser141Asn)
NM_024753.5(TTC21B):c.429+5C>T
NM_024753.5(TTC21B):c.436G>A (p.Val146Ile) rs373074238
NM_024753.5(TTC21B):c.455A>G (p.Asp152Gly) rs145726127
NM_024753.5(TTC21B):c.484A>G (p.Lys162Glu)
NM_024753.5(TTC21B):c.497A>G (p.Lys166Arg)
NM_024753.5(TTC21B):c.49A>G (p.Arg17Gly)
NM_024753.5(TTC21B):c.52T>G (p.Tyr18Asp)
NM_024753.5(TTC21B):c.533C>G (p.Thr178Ser)
NM_024753.5(TTC21B):c.571C>T (p.Arg191Cys)
NM_024753.5(TTC21B):c.584C>T (p.Ser195Leu) rs2105360604
NM_024753.5(TTC21B):c.58C>T (p.His20Tyr) rs938432348
NM_024753.5(TTC21B):c.598A>G (p.Thr200Ala) rs1387736357
NM_024753.5(TTC21B):c.61C>A (p.His21Asn)
NM_024753.5(TTC21B):c.65T>C (p.Val22Ala)
NM_024753.5(TTC21B):c.671C>T (p.Ala224Val)
NM_024753.5(TTC21B):c.737T>C (p.Val246Ala)
NM_024753.5(TTC21B):c.755A>G (p.Gln252Arg)
NM_024753.5(TTC21B):c.766T>G (p.Tyr256Asp)
NM_024753.5(TTC21B):c.770T>C (p.Val257Ala)
NM_024753.5(TTC21B):c.776G>C (p.Arg259Thr) rs1347669823
NM_024753.5(TTC21B):c.779A>T (p.Glu260Val)
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) rs886055027
NM_024753.5(TTC21B):c.797C>T (p.Ala266Val) rs562559211
NM_024753.5(TTC21B):c.820G>C (p.Gly274Arg) rs2105347173
NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu) rs776784928
NM_024753.5(TTC21B):c.887G>A (p.Ser296Asn)
NM_024753.5(TTC21B):c.895-3T>C
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys) rs1437304335
NM_024753.5(TTC21B):c.902G>A (p.Arg301His)
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.1012A>T (p.Thr338Ser) rs1729016178
NM_025132.4(WDR19):c.1070G>A (p.Cys357Tyr)
NM_025132.4(WDR19):c.1099C>G (p.Leu367Val) rs1064797308
NM_025132.4(WDR19):c.1112C>T (p.Thr371Ile) rs2109326721
NM_025132.4(WDR19):c.1142C>G (p.Pro381Arg)
NM_025132.4(WDR19):c.1150G>A (p.Val384Ile) rs2109327092
NM_025132.4(WDR19):c.11T>C (p.Ile4Thr) rs2109740507
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) rs1729054259
NM_025132.4(WDR19):c.1241G>A (p.Gly414Glu)
NM_025132.4(WDR19):c.1262T>G (p.Leu421Trp)
NM_025132.4(WDR19):c.1323T>A (p.Ala441=) rs2109329846
NM_025132.4(WDR19):c.1327C>A (p.Leu443Ile) rs1368404511
NM_025132.4(WDR19):c.1328T>C (p.Leu443Pro) rs1729154313
NM_025132.4(WDR19):c.1342G>A (p.Val448Ile) rs760418892
NM_025132.4(WDR19):c.1342G>C (p.Val448Leu) rs760418892
NM_025132.4(WDR19):c.1352A>G (p.His451Arg)
NM_025132.4(WDR19):c.1356+4A>G
NM_025132.4(WDR19):c.1373T>C (p.Leu458Ser) rs1729252548
NM_025132.4(WDR19):c.1384GAA[1] (p.Glu463del) rs763535788
NM_025132.4(WDR19):c.1385A>T (p.Glu462Val) rs2109331852
NM_025132.4(WDR19):c.1427G>C (p.Cys476Ser)
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) rs1560503998
NM_025132.4(WDR19):c.1479T>C (p.Asp493=) rs1207013785
NM_025132.4(WDR19):c.1493A>G (p.Gln498Arg) rs2109349675
NM_025132.4(WDR19):c.1537C>A (p.His513Asn) rs2109349795
NM_025132.4(WDR19):c.1541C>A (p.Pro514His)
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg) rs1335665760
NM_025132.4(WDR19):c.1658A>G (p.Asp553Gly)
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr) rs1730480639
NM_025132.4(WDR19):c.1681G>A (p.Val561Ile)
NM_025132.4(WDR19):c.1711G>A (p.Gly571Ser) rs2109357664
NM_025132.4(WDR19):c.1730A>G (p.Asp577Gly)
NM_025132.4(WDR19):c.1732G>A (p.Asp578Asn)
NM_025132.4(WDR19):c.1762A>G (p.Lys588Glu) rs1469699848
NM_025132.4(WDR19):c.1772T>C (p.Ile591Thr)
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.1778G>A (p.Gly593Glu)
NM_025132.4(WDR19):c.1810G>T (p.Val604Phe) rs1245108212
NM_025132.4(WDR19):c.1816T>C (p.Phe606Leu) rs2109358423
NM_025132.4(WDR19):c.1856C>A (p.Thr619Asn)
NM_025132.4(WDR19):c.186G>C (p.Trp62Cys) rs2109250538
NM_025132.4(WDR19):c.1919A>C (p.Asn640Thr) rs2109358802
NM_025132.4(WDR19):c.1919A>T (p.Asn640Ile) rs2109358802
NM_025132.4(WDR19):c.1944A>T (p.Glu648Asp) rs2109358945
NM_025132.4(WDR19):c.1951C>G (p.Pro651Ala) rs2109358967
NM_025132.4(WDR19):c.1954A>G (p.Met652Val)
NM_025132.4(WDR19):c.197G>A (p.Gly66Glu) rs780621466
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)
NM_025132.4(WDR19):c.2003T>C (p.Met668Thr) rs1577943470
NM_025132.4(WDR19):c.2023G>A (p.Glu675Lys)
NM_025132.4(WDR19):c.2030C>T (p.Ala677Val) rs2109366909
NM_025132.4(WDR19):c.2056C>G (p.Leu686Val)
NM_025132.4(WDR19):c.2057T>C (p.Leu686Pro)
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2074G>C (p.Glu692Gln) rs1730907908
NM_025132.4(WDR19):c.2083A>G (p.Ile695Val)
NM_025132.4(WDR19):c.2114G>A (p.Gly705Asp)
NM_025132.4(WDR19):c.2143-12T>G
NM_025132.4(WDR19):c.2146A>G (p.Ile716Val)
NM_025132.4(WDR19):c.2167G>C (p.Ala723Pro) rs2109368181
NM_025132.4(WDR19):c.2183T>A (p.Met728Lys)
NM_025132.4(WDR19):c.2185T>C (p.Phe729Leu)
NM_025132.4(WDR19):c.2201A>G (p.Asn734Ser)
NM_025132.4(WDR19):c.2203C>G (p.Leu735Val)
NM_025132.4(WDR19):c.2213A>T (p.Asp738Val) rs1307951215
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His) rs886059399
NM_025132.4(WDR19):c.2236C>T (p.Pro746Ser) rs372232320
NM_025132.4(WDR19):c.2237C>G (p.Pro746Arg) rs2109368525
NM_025132.4(WDR19):c.223A>C (p.Lys75Gln)
NM_025132.4(WDR19):c.2248C>G (p.Leu750Val)
NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)
NM_025132.4(WDR19):c.2302C>A (p.His768Asn) rs2109377406
NM_025132.4(WDR19):c.2305T>G (p.Leu769Val)
NM_025132.4(WDR19):c.2312C>T (p.Pro771Leu) rs1249345016
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu) rs762043395
NM_025132.4(WDR19):c.2324C>G (p.Pro775Arg) rs1731220593
NM_025132.4(WDR19):c.233G>A (p.Cys78Tyr) rs200354828
NM_025132.4(WDR19):c.2377A>G (p.Asn793Asp) rs780435361
NM_025132.4(WDR19):c.2381C>G (p.Ala794Gly)
NM_025132.4(WDR19):c.2386G>T (p.Ala796Ser)
NM_025132.4(WDR19):c.2404A>G (p.Ile802Val) rs750584650
NM_025132.4(WDR19):c.2411G>A (p.Gly804Asp)
NM_025132.4(WDR19):c.2413G>A (p.Asp805Asn)
NM_025132.4(WDR19):c.2414A>T (p.Asp805Val)
NM_025132.4(WDR19):c.2421+5C>A rs563302411
NM_025132.4(WDR19):c.2422G>C (p.Glu808Gln)
NM_025132.4(WDR19):c.2428G>T (p.Asp810Tyr) rs1168307194
NM_025132.4(WDR19):c.2435C>G (p.Ala812Gly)
NM_025132.4(WDR19):c.2472G>A (p.Met824Ile) rs1175997746
NM_025132.4(WDR19):c.2479A>G (p.Ile827Val) rs2109405829
NM_025132.4(WDR19):c.2480T>G (p.Ile827Arg)
NM_025132.4(WDR19):c.2483G>A (p.Arg828His)
NM_025132.4(WDR19):c.2483G>C (p.Arg828Pro)
NM_025132.4(WDR19):c.2485C>G (p.Arg829Gly)
NM_025132.4(WDR19):c.2486G>A (p.Arg829Gln)
NM_025132.4(WDR19):c.2503C>G (p.Leu835Val)
NM_025132.4(WDR19):c.2551G>A (p.Glu851Lys)
NM_025132.4(WDR19):c.2562+19_2562+28del
NM_025132.4(WDR19):c.2562+5T>C
NM_025132.4(WDR19):c.2563-3T>C
NM_025132.4(WDR19):c.2563-6T>C rs1213227553
NM_025132.4(WDR19):c.2591A>G (p.Glu864Gly)
NM_025132.4(WDR19):c.2597G>A (p.Gly866Asp) rs2109406612
NM_025132.4(WDR19):c.2629A>C (p.Ile877Leu) rs2109406828
NM_025132.4(WDR19):c.2633G>A (p.Arg878His)
NM_025132.4(WDR19):c.2635T>C (p.Ser879Pro) rs2109406888
NM_025132.4(WDR19):c.2646-16G>A
NM_025132.4(WDR19):c.2646-9C>T
NM_025132.4(WDR19):c.2648C>T (p.Ala883Val) rs1328854619
NM_025132.4(WDR19):c.2681C>T (p.Ser894Phe) rs2109410308
NM_025132.4(WDR19):c.2683C>G (p.Pro895Ala) rs1732419230
NM_025132.4(WDR19):c.2683_2685del (p.Pro895del)
NM_025132.4(WDR19):c.2684C>A (p.Pro895His) rs774529884
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)
NM_025132.4(WDR19):c.270C>T (p.Ser90=) rs1725957452
NM_025132.4(WDR19):c.2743G>C (p.Val915Leu)
NM_025132.4(WDR19):c.2749G>A (p.Ala917Thr)
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe) rs780963454
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro) rs201685269
NM_025132.4(WDR19):c.2816A>C (p.Glu939Ala)
NM_025132.4(WDR19):c.2828A>C (p.Asn943Thr) rs778487491
NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser) rs778487491
NM_025132.4(WDR19):c.2833G>A (p.Val945Ile)
NM_025132.4(WDR19):c.2869G>A (p.Val957Ile)
NM_025132.4(WDR19):c.2880T>G (p.Phe960Leu) rs1171033092
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro) rs1733504639
NM_025132.4(WDR19):c.290G>A (p.Arg97Lys)
NM_025132.4(WDR19):c.292G>T (p.Asp98Tyr) rs1317389016
NM_025132.4(WDR19):c.2934A>C (p.Lys978Asn)
NM_025132.4(WDR19):c.2941A>C (p.Asn981His) rs1486655648
NM_025132.4(WDR19):c.2977A>G (p.Met993Val) rs1733514837
NM_025132.4(WDR19):c.2978T>C (p.Met993Thr) rs750227475
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)
NM_025132.4(WDR19):c.2990C>A (p.Ala997Glu) rs1381022232
NM_025132.4(WDR19):c.3000T>C (p.Ile1000=) rs1733517192
NM_025132.4(WDR19):c.3002G>A (p.Gly1001Asp)
NM_025132.4(WDR19):c.3045A>T (p.Leu1015Phe)
NM_025132.4(WDR19):c.3066A>G (p.Arg1022=)
NM_025132.4(WDR19):c.3068A>G (p.Tyr1023Cys) rs759424617
NM_025132.4(WDR19):c.3105A>G (p.Gln1035=)
NM_025132.4(WDR19):c.3110C>T (p.Ser1037Leu) rs1224983700
NM_025132.4(WDR19):c.3114+4A>G
NM_025132.4(WDR19):c.3129C>G (p.Phe1043Leu)
NM_025132.4(WDR19):c.3140C>A (p.Pro1047Gln)
NM_025132.4(WDR19):c.3151G>T (p.Asp1051Tyr) rs1387754769
NM_025132.4(WDR19):c.3156T>G (p.Asn1052Lys) rs2109452251
NM_025132.4(WDR19):c.3158T>C (p.Val1053Ala)
NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser) rs756862143
NM_025132.4(WDR19):c.3183+3A>G
NM_025132.4(WDR19):c.3225_3230del (p.Asp1076_His1077del)
NM_025132.4(WDR19):c.3229C>G (p.His1077Asp)
NM_025132.4(WDR19):c.3230A>G (p.His1077Arg)
NM_025132.4(WDR19):c.3232C>T (p.Leu1078Phe)
NM_025132.4(WDR19):c.3236T>C (p.Leu1079Pro) rs2109483428
NM_025132.4(WDR19):c.3251G>T (p.Gly1084Val) rs1394317306
NM_025132.4(WDR19):c.3262-8T>C
NM_025132.4(WDR19):c.3289A>C (p.Met1097Leu)
NM_025132.4(WDR19):c.3289A>T (p.Met1097Leu)
NM_025132.4(WDR19):c.328A>G (p.Ser110Gly) rs2109264662
NM_025132.4(WDR19):c.3311A>T (p.Glu1104Val) rs1734985961
NM_025132.4(WDR19):c.332T>G (p.Phe111Cys)
NM_025132.4(WDR19):c.3337G>T (p.Ala1113Ser)
NM_025132.4(WDR19):c.333C>A (p.Phe111Leu) rs755327576
NM_025132.4(WDR19):c.3349C>A (p.Gln1117Lys)
NM_025132.4(WDR19):c.3355G>A (p.Ala1119Thr) rs915717367
NM_025132.4(WDR19):c.3358+12A>G rs2109490722
NM_025132.4(WDR19):c.3359-5T>A
NM_025132.4(WDR19):c.3373G>A (p.Ala1125Thr)
NM_025132.4(WDR19):c.3374C>T (p.Ala1125Val) rs1735186262
NM_025132.4(WDR19):c.3391A>G (p.Ser1131Gly) rs2109496811
NM_025132.4(WDR19):c.3395T>G (p.Met1132Arg) rs2109496840
NM_025132.4(WDR19):c.3449A>C (p.Asn1150Thr) rs2109497125
NM_025132.4(WDR19):c.3466A>G (p.Ser1156Gly) rs2109497278
NM_025132.4(WDR19):c.3470A>G (p.Tyr1157Cys) rs1735198326
NM_025132.4(WDR19):c.3508A>G (p.Met1170Val) rs371474583
NM_025132.4(WDR19):c.3511A>G (p.Lys1171Glu)
NM_025132.4(WDR19):c.3513A>T (p.Lys1171Asn) rs765379022
NM_025132.4(WDR19):c.3520C>A (p.Arg1174Ser) rs755139948
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu) rs372719724
NM_025132.4(WDR19):c.3545A>G (p.Asn1182Ser) rs1277873234
NM_025132.4(WDR19):c.3547A>G (p.Ile1183Val)
NM_025132.4(WDR19):c.3566-6T>A
NM_025132.4(WDR19):c.3584C>T (p.Thr1195Met)
NM_025132.4(WDR19):c.3596T>C (p.Ile1199Thr)
NM_025132.4(WDR19):c.359A>T (p.Asn120Ile) rs2109264782
NM_025132.4(WDR19):c.3614G>C (p.Gly1205Ala)
NM_025132.4(WDR19):c.3634A>G (p.Ser1212Gly)
NM_025132.4(WDR19):c.3636C>G (p.Ser1212Arg) rs2109514971
NM_025132.4(WDR19):c.3651G>T (p.Leu1217Phe)
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) rs1735748675
NM_025132.4(WDR19):c.3668G>C (p.Arg1223Pro)
NM_025132.4(WDR19):c.3681T>G (p.Asp1227Glu) rs573727744
NM_025132.4(WDR19):c.3691A>G (p.Lys1231Glu)
NM_025132.4(WDR19):c.371A>G (p.Tyr124Cys) rs2109264795
NM_025132.4(WDR19):c.3728T>C (p.Ile1243Thr)
NM_025132.4(WDR19):c.373A>C (p.Asn125His)
NM_025132.4(WDR19):c.376C>T (p.His126Tyr)
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile) rs886059403
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys) rs1553919125
NM_025132.4(WDR19):c.3788G>A (p.Cys1263Tyr) rs1735978246
NM_025132.4(WDR19):c.3834T>G (p.Ile1278Met) rs1735983084
NM_025132.4(WDR19):c.3851T>C (p.Met1284Thr) rs1438498947
NM_025132.4(WDR19):c.3869C>T (p.Thr1290Met) rs1301360733
NM_025132.4(WDR19):c.388C>G (p.Arg130Gly)
NM_025132.4(WDR19):c.3913_3917+1dup rs1736099193
NM_025132.4(WDR19):c.3918C>T (p.Ile1306=)
NM_025132.4(WDR19):c.3926A>T (p.Asn1309Ile) rs1736142058
NM_025132.4(WDR19):c.3946A>C (p.Met1316Leu) rs1736144507
NM_025132.4(WDR19):c.3946A>T (p.Met1316Leu) rs1736144507
NM_025132.4(WDR19):c.3959G>C (p.Arg1320Thr) rs1736145510
NM_025132.4(WDR19):c.4006C>G (p.Leu1336Val)
NM_025132.4(WDR19):c.4006_4013del (p.Leu1336fs) rs2109526590
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly) rs367721770
NM_025132.4(WDR19):c.4009C>T (p.Arg1337Ter)
NM_025132.4(WDR19):c.4010G>A (p.Arg1337Gln) rs745506402
NM_025132.4(WDR19):c.4021G>A (p.Glu1341Lys)
NM_025132.4(WDR19):c.437G>A (p.Cys146Tyr)
NM_025132.4(WDR19):c.522+8A>G
NM_025132.4(WDR19):c.535T>C (p.Ser179Pro)
NM_025132.4(WDR19):c.53A>G (p.Gln18Arg)
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu) rs769602871
NM_025132.4(WDR19):c.580C>G (p.Arg194Gly) rs1445634325
NM_025132.4(WDR19):c.603+17A>G rs2109296086
NM_025132.4(WDR19):c.604A>G (p.Ile202Val)
NM_025132.4(WDR19):c.628A>G (p.Thr210Ala)
NM_025132.4(WDR19):c.631T>G (p.Leu211Val)
NM_025132.4(WDR19):c.636T>G (p.Phe212Leu) rs1727819329
NM_025132.4(WDR19):c.650A>G (p.Asn217Ser)
NM_025132.4(WDR19):c.65A>C (p.Gln22Pro) rs2109740775
NM_025132.4(WDR19):c.673C>A (p.Leu225Ile) rs1727822059
NM_025132.4(WDR19):c.696C>T (p.Gly232=)
NM_025132.4(WDR19):c.697A>G (p.Asn233Asp)
NM_025132.4(WDR19):c.7-5T>G rs1725441027
NM_025132.4(WDR19):c.716+4T>A rs2109300292
NM_025132.4(WDR19):c.727G>A (p.Gly243Ser) rs1727857328
NM_025132.4(WDR19):c.731G>C (p.Arg244Pro)
NM_025132.4(WDR19):c.77G>C (p.Gly26Ala) rs2109740825
NM_025132.4(WDR19):c.7C>T (p.Arg3Cys)
NM_025132.4(WDR19):c.806T>C (p.Phe269Ser) rs1727870637
NM_025132.4(WDR19):c.812C>T (p.Ala271Val) rs981943939
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) rs199812132
NM_025132.4(WDR19):c.815G>A (p.Arg272His)
NM_025132.4(WDR19):c.825_830del (p.Lys275_Asp276del)
NM_025132.4(WDR19):c.82T>C (p.Tyr28His)
NM_025132.4(WDR19):c.840C>G (p.Ser280Arg)
NM_025132.4(WDR19):c.841A>C (p.Ile281Leu) rs1727876160
NM_025132.4(WDR19):c.925A>G (p.Met309Val)
NM_025132.4(WDR19):c.941A>G (p.Asn314Ser)
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser) rs1728875659
NM_025132.4(WDR19):c.959A>T (p.Lys320Ile) rs1577897014
NM_052844.4(DYNC2I2):c.1003G>T (p.Val335Leu)
NM_052844.4(DYNC2I2):c.1024T>C (p.Phe342Leu)
NM_052844.4(DYNC2I2):c.1063G>C (p.Glu355Gln)
NM_052844.4(DYNC2I2):c.1069G>A (p.Gly357Ser) rs769501856
NM_052844.4(DYNC2I2):c.1072T>G (p.Phe358Val) rs2132139382
NM_052844.4(DYNC2I2):c.1076C>T (p.Pro359Leu)
NM_052844.4(DYNC2I2):c.1097C>G (p.Ala366Gly)
NM_052844.4(DYNC2I2):c.1099G>A (p.Gly367Arg) rs1344384758
NM_052844.4(DYNC2I2):c.1108G>T (p.Ala370Ser)
NM_052844.4(DYNC2I2):c.1112T>G (p.Leu371Arg)
NM_052844.4(DYNC2I2):c.1114A>T (p.Thr372Ser) rs1589428189
NM_052844.4(DYNC2I2):c.1115C>T (p.Thr372Met)
NM_052844.4(DYNC2I2):c.1118G>A (p.Arg373Gln)
NM_052844.4(DYNC2I2):c.1118G>T (p.Arg373Leu) rs201326058
NM_052844.4(DYNC2I2):c.1135C>T (p.Pro379Ser)
NM_052844.4(DYNC2I2):c.1141C>T (p.Arg381Trp)
NM_052844.4(DYNC2I2):c.1155G>C (p.Gln385His)
NM_052844.4(DYNC2I2):c.1165_1167del (p.Ser389del)
NM_052844.4(DYNC2I2):c.1169C>G (p.Pro390Arg)
NM_052844.4(DYNC2I2):c.116A>G (p.Gln39Arg) rs1000127877
NM_052844.4(DYNC2I2):c.1171C>A (p.His391Asn)
NM_052844.4(DYNC2I2):c.1171C>G (p.His391Asp) rs537004785
NM_052844.4(DYNC2I2):c.1171C>T (p.His391Tyr)
NM_052844.4(DYNC2I2):c.1178G>A (p.Gly393Asp)
NM_052844.4(DYNC2I2):c.1186T>C (p.Tyr396His)
NM_052844.4(DYNC2I2):c.1189T>C (p.Ser397Pro)
NM_052844.4(DYNC2I2):c.1191T>A (p.Ser397=)
NM_052844.4(DYNC2I2):c.1201T>C (p.Ser401Pro)
NM_052844.4(DYNC2I2):c.1212C>T (p.His404=)
NM_052844.4(DYNC2I2):c.1214+5G>A
NM_052844.4(DYNC2I2):c.123G>C (p.Glu41Asp)
NM_052844.4(DYNC2I2):c.1241A>G (p.Asp414Gly) rs2132136694
NM_052844.4(DYNC2I2):c.1244G>A (p.Gly415Glu) rs2132136665
NM_052844.4(DYNC2I2):c.1249G>A (p.Val417Ile)
NM_052844.4(DYNC2I2):c.1256T>G (p.Leu419Arg)
NM_052844.4(DYNC2I2):c.1264A>G (p.Met422Val)
NM_052844.4(DYNC2I2):c.1291C>A (p.Leu431Met)
NM_052844.4(DYNC2I2):c.1297C>G (p.Leu433Val)
NM_052844.4(DYNC2I2):c.130G>T (p.Gly44Cys)
NM_052844.4(DYNC2I2):c.1321G>A (p.Val441Met)
NM_052844.4(DYNC2I2):c.1325G>A (p.Arg442His)
NM_052844.4(DYNC2I2):c.1336G>T (p.Val446Leu) rs746286697
NM_052844.4(DYNC2I2):c.133G>A (p.Val45Met)
NM_052844.4(DYNC2I2):c.1354G>C (p.Ala452Pro) rs2132135903
NM_052844.4(DYNC2I2):c.1355C>T (p.Ala452Val)
NM_052844.4(DYNC2I2):c.1357G>A (p.Ala453Thr)
NM_052844.4(DYNC2I2):c.1360G>A (p.Ala454Thr)
NM_052844.4(DYNC2I2):c.1361C>G (p.Ala454Gly)
NM_052844.4(DYNC2I2):c.1372+5del rs772722096
NM_052844.4(DYNC2I2):c.137C>T (p.Ala46Val) rs1234829068
NM_052844.4(DYNC2I2):c.140C>G (p.Ser47Cys) rs1860830386
NM_052844.4(DYNC2I2):c.140C>T (p.Ser47Phe)
NM_052844.4(DYNC2I2):c.1412A>G (p.Lys471Arg) rs2132131817
NM_052844.4(DYNC2I2):c.1417A>C (p.Thr473Pro)
NM_052844.4(DYNC2I2):c.1429A>G (p.Lys477Glu) rs2132131357
NM_052844.4(DYNC2I2):c.1449C>A (p.Ser483Arg) rs1445564979
NM_052844.4(DYNC2I2):c.1453G>A (p.Val485Ile) rs375843859
NM_052844.4(DYNC2I2):c.1456T>C (p.Tyr486His)
NM_052844.4(DYNC2I2):c.1457A>G (p.Tyr486Cys)
NM_052844.4(DYNC2I2):c.1496C>T (p.Ala499Val)
NM_052844.4(DYNC2I2):c.14C>A (p.Ala5Glu) rs544655044
NM_052844.4(DYNC2I2):c.1520T>C (p.Val507Ala)
NM_052844.4(DYNC2I2):c.1541C>T (p.Thr514Ile)
NM_052844.4(DYNC2I2):c.1558G>A (p.Gly520Arg)
NM_052844.4(DYNC2I2):c.1564C>G (p.Arg522Gly)
NM_052844.4(DYNC2I2):c.1570G>A (p.Ala524Thr) rs752702804
NM_052844.4(DYNC2I2):c.158G>A (p.Arg53Lys)
NM_052844.4(DYNC2I2):c.159G>T (p.Arg53Ser)
NM_052844.4(DYNC2I2):c.1604C>T (p.Ala535Val) rs758735687
NM_052844.4(DYNC2I2):c.1607C>T (p.Ala536Val)
NM_052844.4(DYNC2I2):c.173T>C (p.Ile58Thr) rs763670176
NM_052844.4(DYNC2I2):c.17A>C (p.Gln6Pro)
NM_052844.4(DYNC2I2):c.182A>G (p.Glu61Gly)
NM_052844.4(DYNC2I2):c.186G>A (p.Thr62=)
NM_052844.4(DYNC2I2):c.188A>G (p.Lys63Arg)
NM_052844.4(DYNC2I2):c.200C>T (p.Thr67Met)
NM_052844.4(DYNC2I2):c.215C>T (p.Thr72Ile)
NM_052844.4(DYNC2I2):c.218C>A (p.Ala73Asp)
NM_052844.4(DYNC2I2):c.253G>A (p.Ala85Thr)
NM_052844.4(DYNC2I2):c.26C>A (p.Pro9Gln) rs748839336
NM_052844.4(DYNC2I2):c.280C>T (p.Pro94Ser) rs1860501994
NM_052844.4(DYNC2I2):c.295C>G (p.Pro99Ala)
NM_052844.4(DYNC2I2):c.295C>T (p.Pro99Ser)
NM_052844.4(DYNC2I2):c.296C>T (p.Pro99Leu) rs2132156076
NM_052844.4(DYNC2I2):c.309_310inv (p.Asp104Asn)
NM_052844.4(DYNC2I2):c.319A>G (p.Arg107Gly) rs759672549
NM_052844.4(DYNC2I2):c.325G>T (p.Ala109Ser) rs773435636
NM_052844.4(DYNC2I2):c.334C>A (p.Leu112Ile)
NM_052844.4(DYNC2I2):c.337C>T (p.Arg113Trp) rs199920288
NM_052844.4(DYNC2I2):c.347_348delinsTT (p.Glu116Val)
NM_052844.4(DYNC2I2):c.37G>C (p.Ala13Pro) rs1235612644
NM_052844.4(DYNC2I2):c.388C>T (p.His130Tyr) rs765530543
NM_052844.4(DYNC2I2):c.38C>G (p.Ala13Gly)
NM_052844.4(DYNC2I2):c.421G>A (p.Glu141Lys)
NM_052844.4(DYNC2I2):c.424CAG[4] (p.Gln144dup) rs2132155546
NM_052844.4(DYNC2I2):c.428A>C (p.Gln143Pro)
NM_052844.4(DYNC2I2):c.433A>G (p.Met145Val) rs2132155527
NM_052844.4(DYNC2I2):c.436-3C>T
NM_052844.4(DYNC2I2):c.44G>A (p.Ser15Asn) rs752793349
NM_052844.4(DYNC2I2):c.44G>C (p.Ser15Thr)
NM_052844.4(DYNC2I2):c.4G>A (p.Ala2Thr) rs867246942
NM_052844.4(DYNC2I2):c.50G>A (p.Gly17Asp)
NM_052844.4(DYNC2I2):c.529G>T (p.Ala177Ser)
NM_052844.4(DYNC2I2):c.52G>A (p.Val18Ile)
NM_052844.4(DYNC2I2):c.546-3C>T
NM_052844.4(DYNC2I2):c.554A>T (p.His185Leu)
NM_052844.4(DYNC2I2):c.56C>T (p.Ala19Val)
NM_052844.4(DYNC2I2):c.571C>T (p.Leu191Phe)
NM_052844.4(DYNC2I2):c.604C>T (p.Arg202Trp)
NM_052844.4(DYNC2I2):c.629C>G (p.Pro210Arg)
NM_052844.4(DYNC2I2):c.629C>T (p.Pro210Leu) rs780689247
NM_052844.4(DYNC2I2):c.632C>T (p.Ser211Leu)
NM_052844.4(DYNC2I2):c.654C>G (p.Ser218Arg) rs750407126
NM_052844.4(DYNC2I2):c.655G>A (p.Ala219Thr)
NM_052844.4(DYNC2I2):c.671C>T (p.Ala224Val)
NM_052844.4(DYNC2I2):c.683C>T (p.Thr228Met)
NM_052844.4(DYNC2I2):c.697G>A (p.Val233Ile)
NM_052844.4(DYNC2I2):c.703+4A>G
NM_052844.4(DYNC2I2):c.704-26_704-14del
NM_052844.4(DYNC2I2):c.706G>A (p.Gly236Arg)
NM_052844.4(DYNC2I2):c.716G>T (p.Ser239Ile)
NM_052844.4(DYNC2I2):c.743G>A (p.Ser248Asn)
NM_052844.4(DYNC2I2):c.758C>T (p.Pro253Leu)
NM_052844.4(DYNC2I2):c.782C>T (p.Thr261Met)
NM_052844.4(DYNC2I2):c.791C>T (p.Thr264Ile)
NM_052844.4(DYNC2I2):c.806T>C (p.Val269Ala)
NM_052844.4(DYNC2I2):c.829G>A (p.Glu277Lys)
NM_052844.4(DYNC2I2):c.82A>G (p.Ser28Gly)
NM_052844.4(DYNC2I2):c.869C>T (p.Ala290Val)
NM_052844.4(DYNC2I2):c.871_873del (p.Thr291del)
NM_052844.4(DYNC2I2):c.903C>G (p.Ile301Met)
NM_052844.4(DYNC2I2):c.904G>A (p.Gly302Arg) rs373253932
NM_052844.4(DYNC2I2):c.911G>T (p.Gly304Val) rs1233100011
NM_052844.4(DYNC2I2):c.929A>G (p.Glu310Gly)
NM_052844.4(DYNC2I2):c.937G>A (p.Ala313Thr)
NM_052844.4(DYNC2I2):c.946A>T (p.Met316Leu)
NM_052844.4(DYNC2I2):c.952C>G (p.Gln318Glu)
NM_052844.4(DYNC2I2):c.95C>T (p.Pro32Leu)
NM_052844.4(DYNC2I2):c.965G>A (p.Ser322Asn)
NM_052844.4(DYNC2I2):c.981+4C>G
NM_147127.5(EVC2):c.1006G>T (p.Val336Phe)
NM_147127.5(EVC2):c.101G>A (p.Ser34Asn) rs888701582
NM_147127.5(EVC2):c.1046C>T (p.Thr349Ile)
NM_147127.5(EVC2):c.1054G>C (p.Asp352His)
NM_147127.5(EVC2):c.1060G>A (p.Val354Met)
NM_147127.5(EVC2):c.1082A>G (p.Asn361Ser)
NM_147127.5(EVC2):c.1089A>G (p.Gln363=)
NM_147127.5(EVC2):c.1112A>G (p.Glu371Gly)
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys) rs2108864342
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)
NM_147127.5(EVC2):c.11C>G (p.Ser4Trp)
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)
NM_147127.5(EVC2):c.121C>A (p.Pro41Thr)
NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr)
NM_147127.5(EVC2):c.1228C>G (p.Leu410Val)
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys) rs2108863818
NM_147127.5(EVC2):c.139C>A (p.Pro47Thr)
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)
NM_147127.5(EVC2):c.1470+6A>G
NM_147127.5(EVC2):c.1514T>C (p.Leu505Pro)
NM_147127.5(EVC2):c.1516G>A (p.Glu506Lys)
NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1556A>G (p.Glu519Gly)
NM_147127.5(EVC2):c.1562A>G (p.Asp521Gly)
NM_147127.5(EVC2):c.1574C>T (p.Ala525Val)
NM_147127.5(EVC2):c.1589C>A (p.Ala530Asp) rs1329925495
NM_147127.5(EVC2):c.1616G>T (p.Ser539Ile)
NM_147127.5(EVC2):c.1634T>C (p.Ile545Thr)
NM_147127.5(EVC2):c.1637A>C (p.Lys546Thr)
NM_147127.5(EVC2):c.1645A>G (p.Ile549Val)
NM_147127.5(EVC2):c.1675G>A (p.Ala559Thr)
NM_147127.5(EVC2):c.1688T>C (p.Leu563Pro)
NM_147127.5(EVC2):c.1700C>T (p.Ser567Phe)
NM_147127.5(EVC2):c.1740C>G (p.Phe580Leu)
NM_147127.5(EVC2):c.176G>A (p.Gly59Asp)
NM_147127.5(EVC2):c.176G>C (p.Gly59Ala)
NM_147127.5(EVC2):c.1782C>G (p.His594Gln)
NM_147127.5(EVC2):c.1788_1793del (p.Tyr597_Leu598del)
NM_147127.5(EVC2):c.1802A>G (p.Asn601Ser) rs775815805
NM_147127.5(EVC2):c.1811C>T (p.Ser604Leu)
NM_147127.5(EVC2):c.1825G>A (p.Val609Met)
NM_147127.5(EVC2):c.1859T>A (p.Leu620Gln) rs1560177469
NM_147127.5(EVC2):c.1886+3A>G rs2108846962
NM_147127.5(EVC2):c.1888G>A (p.Ala630Thr)
NM_147127.5(EVC2):c.1889C>G (p.Ala630Gly)
NM_147127.5(EVC2):c.1892G>T (p.Gly631Val)
NM_147127.5(EVC2):c.1926G>T (p.Leu642Phe) rs2108843340
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
NM_147127.5(EVC2):c.1977C>G (p.Asp659Glu)
NM_147127.5(EVC2):c.1994A>T (p.Lys665Ile)
NM_147127.5(EVC2):c.199A>G (p.Ser67Gly) rs1722347761
NM_147127.5(EVC2):c.2053G>A (p.Glu685Lys)
NM_147127.5(EVC2):c.2057A>G (p.Gln686Arg)
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
NM_147127.5(EVC2):c.2093G>A (p.Arg698Gln)
NM_147127.5(EVC2):c.2107G>A (p.Ala703Thr) rs1381479998
NM_147127.5(EVC2):c.2108C>T (p.Ala703Val)
NM_147127.5(EVC2):c.2124C>G (p.His708Gln)
NM_147127.5(EVC2):c.2135G>A (p.Ser712Asn) rs371896802
NM_147127.5(EVC2):c.214G>C (p.Glu72Gln)
NM_147127.5(EVC2):c.2159C>A (p.Thr720Asn)
NM_147127.5(EVC2):c.2164_2172dup (p.Leu724_Gln725insGluGluLeu)
NM_147127.5(EVC2):c.2200G>A (p.Asp734Asn) rs1715808033
NM_147127.5(EVC2):c.2210G>A (p.Arg737Lys)
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
NM_147127.5(EVC2):c.227A>G (p.Gln76Arg) rs976833828
NM_147127.5(EVC2):c.2296C>T (p.Arg766Cys)
NM_147127.5(EVC2):c.2297G>A (p.Arg766His)
NM_147127.5(EVC2):c.2297G>T (p.Arg766Leu)
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser) rs1454769055
NM_147127.5(EVC2):c.2341G>A (p.Gly781Ser) rs1272970867
NM_147127.5(EVC2):c.2356G>T (p.Ala786Ser)
NM_147127.5(EVC2):c.2365G>A (p.Glu789Lys)
NM_147127.5(EVC2):c.2376G>C (p.Glu792Asp)
NM_147127.5(EVC2):c.2377G>C (p.Gly793Arg)
NM_147127.5(EVC2):c.2386A>G (p.Arg796Gly)
NM_147127.5(EVC2):c.2390A>C (p.Asp797Ala) rs931667385
NM_147127.5(EVC2):c.241A>T (p.Met81Leu)
NM_147127.5(EVC2):c.243G>A (p.Met81Ile)
NM_147127.5(EVC2):c.2467G>A (p.Ala823Thr)
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2479C>T (p.Arg827Cys)
NM_147127.5(EVC2):c.2482T>C (p.Trp828Arg)
NM_147127.5(EVC2):c.2490C>A (p.His830Gln)
NM_147127.5(EVC2):c.2506C>T (p.Leu836Phe)
NM_147127.5(EVC2):c.2512T>C (p.Ser838Pro)
NM_147127.5(EVC2):c.2518G>A (p.Val840Ile) rs2108833529
NM_147127.5(EVC2):c.2585T>A (p.Met862Lys)
NM_147127.5(EVC2):c.2587G>A (p.Asp863Asn)
NM_147127.5(EVC2):c.2614C>T (p.Arg872Trp)
NM_147127.5(EVC2):c.2643G>C (p.Gln881His)
NM_147127.5(EVC2):c.2654G>A (p.Arg885Gln)
NM_147127.5(EVC2):c.2686G>A (p.Val896Met)
NM_147127.5(EVC2):c.2695C>T (p.Pro899Ser)
NM_147127.5(EVC2):c.2706G>C (p.Gln902His)
NM_147127.5(EVC2):c.2707-9C>A rs772234395
NM_147127.5(EVC2):c.2731C>T (p.Arg911Trp)
NM_147127.5(EVC2):c.2732G>C (p.Arg911Pro)
NM_147127.5(EVC2):c.2785A>G (p.Ile929Val)
NM_147127.5(EVC2):c.2815G>A (p.Asp939Asn)
NM_147127.5(EVC2):c.2834G>A (p.Arg945Gln)
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp) rs748869122
NM_147127.5(EVC2):c.2929C>T (p.Arg977Trp)
NM_147127.5(EVC2):c.2938G>A (p.Glu980Lys)
NM_147127.5(EVC2):c.2941A>T (p.Thr981Ser)
NM_147127.5(EVC2):c.2948C>T (p.Ser983Leu) rs536732931
NM_147127.5(EVC2):c.2957C>T (p.Thr986Ile)
NM_147127.5(EVC2):c.2993A>T (p.Glu998Val)
NM_147127.5(EVC2):c.3010A>G (p.Met1004Val)
NM_147127.5(EVC2):c.3012G>A (p.Met1004Ile)
NM_147127.5(EVC2):c.3023C>G (p.Ser1008Trp) rs60809236
NM_147127.5(EVC2):c.303G>A (p.Met101Ile)
NM_147127.5(EVC2):c.3047C>T (p.Ser1016Leu)
NM_147127.5(EVC2):c.3086A>G (p.Glu1029Gly)
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)
NM_147127.5(EVC2):c.3141G>T (p.Trp1047Cys)
NM_147127.5(EVC2):c.3161G>T (p.Gly1054Val)
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
NM_147127.5(EVC2):c.3215C>T (p.Thr1072Ile)
NM_147127.5(EVC2):c.3237C>T (p.Ser1079=)
NM_147127.5(EVC2):c.3238A>C (p.Lys1080Gln)
NM_147127.5(EVC2):c.3240G>C (p.Lys1080Asn)
NM_147127.5(EVC2):c.3269A>C (p.Gln1090Pro)
NM_147127.5(EVC2):c.32C>G (p.Thr11Arg)
NM_147127.5(EVC2):c.3325A>G (p.Met1109Val)
NM_147127.5(EVC2):c.3360+16C>G
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His) rs1577106433
NM_147127.5(EVC2):c.3386C>A (p.Ala1129Glu)
NM_147127.5(EVC2):c.3386C>T (p.Ala1129Val)
NM_147127.5(EVC2):c.3395C>T (p.Ala1132Val)
NM_147127.5(EVC2):c.3397A>C (p.Met1133Leu)
NM_147127.5(EVC2):c.3397A>G (p.Met1133Val)
NM_147127.5(EVC2):c.3410C>T (p.Ala1137Val)
NM_147127.5(EVC2):c.3418C>T (p.Arg1140Cys)
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His) rs779684008
NM_147127.5(EVC2):c.3421C>T (p.Arg1141Trp)
NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
NM_147127.5(EVC2):c.3436G>A (p.Val1146Ile)
NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
NM_147127.5(EVC2):c.3506A>G (p.His1169Arg)
NM_147127.5(EVC2):c.3524G>T (p.Gly1175Val)
NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)
NM_147127.5(EVC2):c.3544G>A (p.Val1182Met)
NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu)
NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu) rs144511301
NM_147127.5(EVC2):c.3552G>T (p.Arg1184Ser)
NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)
NM_147127.5(EVC2):c.3554G>A (p.Arg1185Gln)
NM_147127.5(EVC2):c.3604G>T (p.Asp1202Tyr) rs752599166
NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)
NM_147127.5(EVC2):c.3659+3A>C
NM_147127.5(EVC2):c.3659+3A>G
NM_147127.5(EVC2):c.3659+5T>C rs1722200321
NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)
NM_147127.5(EVC2):c.3689del (p.Arg1230fs)
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg) rs1399603571
NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)
NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)
NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)
NM_147127.5(EVC2):c.3778del (p.Ala1260fs)
NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val) rs894829697
NM_147127.5(EVC2):c.3787A>T (p.Ile1263Phe)
NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)
NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)
NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)
NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)
NM_147127.5(EVC2):c.431C>T (p.Ser144Phe)
NM_147127.5(EVC2):c.434C>A (p.Pro145His)
NM_147127.5(EVC2):c.434C>G (p.Pro145Arg)
NM_147127.5(EVC2):c.434C>T (p.Pro145Leu)
NM_147127.5(EVC2):c.436A>G (p.Ile146Val)
NM_147127.5(EVC2):c.445C>T (p.Arg149Cys)
NM_147127.5(EVC2):c.49G>T (p.Gly17Cys)
NM_147127.5(EVC2):c.509A>T (p.Lys170Ile) rs2151733915
NM_147127.5(EVC2):c.550C>G (p.Arg184Gly)
NM_147127.5(EVC2):c.555A>G (p.Ile185Met) rs2151731889
NM_147127.5(EVC2):c.556T>C (p.Trp186Arg) rs1342830628
NM_147127.5(EVC2):c.55C>A (p.Leu19Met) rs1722364834
NM_147127.5(EVC2):c.566T>A (p.Val189Asp)
NM_147127.5(EVC2):c.596A>G (p.Asn199Ser) rs567458437
NM_147127.5(EVC2):c.610C>T (p.Leu204Phe)
NM_147127.5(EVC2):c.616C>G (p.Leu206Val)
NM_147127.5(EVC2):c.638C>T (p.Thr213Ile) rs2151731712
NM_147127.5(EVC2):c.646G>A (p.Asp216Asn)
NM_147127.5(EVC2):c.649T>C (p.Ser217Pro)
NM_147127.5(EVC2):c.656G>A (p.Gly219Glu) rs1720935592
NM_147127.5(EVC2):c.662G>A (p.Arg221Lys)
NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)
NM_147127.5(EVC2):c.706+6A>G
NM_147127.5(EVC2):c.722C>T (p.Ala241Val)
NM_147127.5(EVC2):c.734C>A (p.Ala245Glu) rs1720636458
NM_147127.5(EVC2):c.740C>T (p.Thr247Met)
NM_147127.5(EVC2):c.748G>A (p.Ala250Thr)
NM_147127.5(EVC2):c.749C>T (p.Ala250Val)
NM_147127.5(EVC2):c.760G>A (p.Gly254Arg)
NM_147127.5(EVC2):c.766G>A (p.Gly256Arg)
NM_147127.5(EVC2):c.787G>A (p.Ala263Thr)
NM_147127.5(EVC2):c.797C>G (p.Thr266Ser)
NM_147127.5(EVC2):c.797C>T (p.Thr266Ile)
NM_147127.5(EVC2):c.80G>C (p.Gly27Ala)
NM_147127.5(EVC2):c.83G>A (p.Arg28Gln)
NM_147127.5(EVC2):c.844T>A (p.Ser282Thr)
NM_147127.5(EVC2):c.845C>G (p.Ser282Cys)
NM_147127.5(EVC2):c.845C>T (p.Ser282Phe)
NM_147127.5(EVC2):c.847A>G (p.Ile283Val)
NM_147127.5(EVC2):c.856G>A (p.Glu286Lys)
NM_147127.5(EVC2):c.864C>G (p.Asn288Lys) rs144730069
NM_147127.5(EVC2):c.865G>C (p.Val289Leu)
NM_147127.5(EVC2):c.886G>A (p.Gly296Ser)
NM_147127.5(EVC2):c.887G>T (p.Gly296Val)
NM_147127.5(EVC2):c.938C>G (p.Thr313Ser)
NM_147127.5(EVC2):c.950T>C (p.Leu317Pro)
NM_147127.5(EVC2):c.960G>C (p.Met320Ile)
NM_147127.5(EVC2):c.964C>T (p.Arg322Cys)
NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1050G>C (p.Met350Ile) rs1729670311
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
NM_153717.3(EVC):c.1119G>A (p.Met373Ile) rs1397539769
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
NM_153717.3(EVC):c.1141G>A (p.Val381Met) rs2152076238
NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1]) rs1164121689
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1186C>G (p.Arg396Gly)
NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)
NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
NM_153717.3(EVC):c.1226G>T (p.Gly409Val) rs1577440027
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
NM_153717.3(EVC):c.1379C>T (p.Ala460Val) rs1309149029
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
NM_153717.3(EVC):c.1528G>C (p.Val510Leu) rs143971158
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys) rs539010490
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly) rs141820870
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu) rs1383180
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu) rs1736003818
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe) rs1713205522
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
NM_153717.3(EVC):c.1894C>T (p.Arg632Trp)
NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)
NM_153717.3(EVC):c.1895G>C (p.Arg632Pro) rs535632933
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg) rs757227773
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro) rs35401386
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser) rs1577616840
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro) rs2152340934
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly) rs545087909
NM_153717.3(EVC):c.2105G>A (p.Arg702His)
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln) rs1430134537
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
NM_153717.3(EVC):c.218C>T (p.Ala73Val) rs1361442490
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser) rs149537641
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
NM_153717.3(EVC):c.2449+5G>A
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser) rs1446692986
NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)
NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
NM_153717.3(EVC):c.2689-8C>G
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln) rs1489027267
NM_153717.3(EVC):c.2783-3C>A
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
NM_153717.3(EVC):c.2842del (p.Val948fs)
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser) rs2152394584
NM_153717.3(EVC):c.2878A>G (p.Thr960Ala) rs2152394644
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser) rs780548102
NM_153717.3(EVC):c.2885G>T (p.Gly962Val)
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
NM_153717.3(EVC):c.2894+4T>A rs746636411
NM_153717.3(EVC):c.2927C>T (p.Ala976Val)
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg) rs1716842535
NM_153717.3(EVC):c.300+3A>G
NM_153717.3(EVC):c.34G>C (p.Ala12Pro) rs1369066723
NM_153717.3(EVC):c.385-3C>T rs2151934859
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
NM_153717.3(EVC):c.437C>G (p.Ala146Gly) rs2151935147
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
NM_153717.3(EVC):c.581G>C (p.Arg194Pro) rs777256784
NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
NM_153717.3(EVC):c.58G>C (p.Ala20Pro) rs1359522467
NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
NM_153717.3(EVC):c.65G>C (p.Arg22Pro) rs2151767266
NM_153717.3(EVC):c.696G>C (p.Lys232Asn) rs371664035
NM_153717.3(EVC):c.698A>C (p.His233Pro)
NM_153717.3(EVC):c.698A>G (p.His233Arg) rs769431829
NM_153717.3(EVC):c.700A>G (p.Met234Val)
NM_153717.3(EVC):c.719T>G (p.Phe240Cys) rs2152000493
NM_153717.3(EVC):c.726G>A (p.Met242Ile)
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.734T>A (p.Leu245His)
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
NM_153717.3(EVC):c.809A>C (p.Glu270Ala) rs1428021249
NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
NM_153717.3(EVC):c.857C>G (p.Ser286Trp) rs139263450
NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
NM_153717.3(EVC):c.939T>A (p.Asn313Lys) rs764394644
NM_153717.3(EVC):c.940A>G (p.Met314Val) rs557010916

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