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
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NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His)
|
rs2140156856
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NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter)
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|
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=)
|
rs2140157005
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NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=)
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|
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=)
|
rs1301341396
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NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs)
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NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu)
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NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)
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NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu)
|
rs1202184988
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NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val)
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|
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser)
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NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu)
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NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu)
|
rs748340175
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NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT
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NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu)
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NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly)
|
rs2038635110
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NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val)
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NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln)
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NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)
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NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser)
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rs2140373651
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NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)
|
rs202124602
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NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu)
|
rs1373940232
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NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr)
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NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)
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NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
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NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg)
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NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln)
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rs774888789
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NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met)
|
rs2140567428
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NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)
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NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del)
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rs1290912165
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NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His)
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rs2140568101
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NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)
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NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr)
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rs1417240682
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NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys)
|
rs2039078597
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NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)
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NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu)
|
rs769369839
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NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro)
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NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr)
|
rs2039080763
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NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu)
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NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn)
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NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu)
|
rs2140662489
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NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)
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NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys)
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NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)
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NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe)
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NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly)
|
rs2140663692
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NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe)
|
rs2140664162
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NM_001329943.3(KIAA0586):c.961+6_961+7del
|
rs1308763926
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NM_001329943.3(KIAA0586):c.962-3A>C
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NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile)
|
rs1317366636
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NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val)
|
rs780810159
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NM_001375405.1(CEP120):c.1034C>T (p.Ser345Phe)
|
rs1772365923
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NM_001375405.1(CEP120):c.1038+6T>C
|
rs1064796555
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NM_001375405.1(CEP120):c.1062G>C (p.Gln354His)
|
rs775393475
|
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NM_001375405.1(CEP120):c.106G>A (p.Gly36Arg)
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NM_001375405.1(CEP120):c.1101A>C (p.Leu367Phe)
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NM_001375405.1(CEP120):c.113A>T (p.Gln38Leu)
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NM_001375405.1(CEP120):c.1151C>A (p.Ser384Tyr)
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NM_001375405.1(CEP120):c.1190A>C (p.Asp397Ala)
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NM_001375405.1(CEP120):c.1304A>G (p.Asn435Ser)
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NM_001375405.1(CEP120):c.1318G>A (p.Ala440Thr)
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NM_001375405.1(CEP120):c.1391A>T (p.His464Leu)
|
rs776098623
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NM_001375405.1(CEP120):c.1465A>C (p.Ile489Leu)
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|
|
NM_001375405.1(CEP120):c.1477CCT[1] (p.Pro494del)
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NM_001375405.1(CEP120):c.1492C>T (p.Arg498Trp)
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NM_001375405.1(CEP120):c.151G>C (p.Glu51Gln)
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NM_001375405.1(CEP120):c.1621A>G (p.Ser541Gly)
|
rs1771927226
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NM_001375405.1(CEP120):c.1681A>G (p.Lys561Glu)
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|
NM_001375405.1(CEP120):c.1720C>T (p.Arg574Cys)
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NM_001375405.1(CEP120):c.1741G>A (p.Val581Met)
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NM_001375405.1(CEP120):c.1741G>C (p.Val581Leu)
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NM_001375405.1(CEP120):c.1742T>C (p.Val581Ala)
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NM_001375405.1(CEP120):c.1831C>G (p.Arg611Gly)
|
rs150132498
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NM_001375405.1(CEP120):c.1832G>A (p.Arg611His)
|
rs758625645
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NM_001375405.1(CEP120):c.1843A>C (p.Ile615Leu)
|
rs753544415
|
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NM_001375405.1(CEP120):c.1862G>T (p.Gly621Val)
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|
|
NM_001375405.1(CEP120):c.1900C>G (p.Pro634Ala)
|
rs748599073
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NM_001375405.1(CEP120):c.1909_1910delinsGT (p.Cys637Val)
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|
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NM_001375405.1(CEP120):c.191C>T (p.Ala64Val)
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NM_001375405.1(CEP120):c.1928C>G (p.Thr643Arg)
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NM_001375405.1(CEP120):c.1937G>A (p.Arg646His)
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NM_001375405.1(CEP120):c.1943C>T (p.Thr648Met)
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NM_001375405.1(CEP120):c.1948G>C (p.Glu650Gln)
|
rs1280274264
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NM_001375405.1(CEP120):c.2175G>C (p.Gln725His)
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|
|
NM_001375405.1(CEP120):c.2185G>A (p.Val729Met)
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NM_001375405.1(CEP120):c.2196+5G>A
|
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NM_001375405.1(CEP120):c.220C>A (p.Pro74Thr)
|
rs1774369109
|
|
NM_001375405.1(CEP120):c.2226_2234del (p.Glu743_Gln745del)
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|
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NM_001375405.1(CEP120):c.2266C>T (p.Arg756Cys)
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|
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NM_001375405.1(CEP120):c.2283C>G (p.Asp761Glu)
|
rs2127034566
|
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NM_001375405.1(CEP120):c.2292C>G (p.His764Gln)
|
|
|
NM_001375405.1(CEP120):c.2301A>C (p.Glu767Asp)
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NM_001375405.1(CEP120):c.2344C>T (p.Arg782Cys)
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NM_001375405.1(CEP120):c.2345G>A (p.Arg782His)
|
rs768733124
|
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NM_001375405.1(CEP120):c.2418C>A (p.Asp806Glu)
|
rs1770933357
|
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NM_001375405.1(CEP120):c.2458A>G (p.Ile820Val)
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|
|
NM_001375405.1(CEP120):c.2481+6C>T
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NM_001375405.1(CEP120):c.2494A>G (p.Arg832Gly)
|
rs2127002614
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NM_001375405.1(CEP120):c.2548C>G (p.Arg850Gly)
|
rs772596480
|
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NM_001375405.1(CEP120):c.2580+4T>G
|
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NM_001375405.1(CEP120):c.2605C>T (p.Arg869Cys)
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NM_001375405.1(CEP120):c.2619G>C (p.Gln873His)
|
rs963767744
|
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NM_001375405.1(CEP120):c.2638A>C (p.Met880Leu)
|
rs763397454
|
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NM_001375405.1(CEP120):c.2648G>A (p.Arg883His)
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NM_001375405.1(CEP120):c.2659G>A (p.Ala887Thr)
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NM_001375405.1(CEP120):c.2707A>G (p.Ile903Val)
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NM_001375405.1(CEP120):c.2753A>T (p.Tyr918Phe)
|
|
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NM_001375405.1(CEP120):c.278G>A (p.Gly93Asp)
|
rs1554106320
|
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NM_001375405.1(CEP120):c.2824G>A (p.Asp942Asn)
|
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NM_001375405.1(CEP120):c.2839C>T (p.Arg947Cys)
|
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|
NM_001375405.1(CEP120):c.285C>G (p.Ile95Met)
|
rs367752008
|
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NM_001375405.1(CEP120):c.286G>A (p.Val96Ile)
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|
|
NM_001375405.1(CEP120):c.325C>T (p.Pro109Ser)
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NM_001375405.1(CEP120):c.368A>T (p.Lys123Met)
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NM_001375405.1(CEP120):c.397G>C (p.Glu133Gln)
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NM_001375405.1(CEP120):c.464-8C>G
|
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NM_001375405.1(CEP120):c.469G>A (p.Ala157Thr)
|
rs1379324177
|
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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)
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NM_001375405.1(CEP120):c.772A>G (p.Ile258Val)
|
|
|
NM_001375405.1(CEP120):c.779G>T (p.Arg260Leu)
|
rs189429890
|
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NM_001375405.1(CEP120):c.797A>G (p.Gln266Arg)
|
|
|
NM_001375405.1(CEP120):c.842G>A (p.Gly281Glu)
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NM_001375405.1(CEP120):c.896A>G (p.Asn299Ser)
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NM_001375405.1(CEP120):c.94G>A (p.Ala32Thr)
|
|
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NM_001375405.1(CEP120):c.991A>C (p.Thr331Pro)
|
|
|
NM_001377.3(DYNC2H1):c.1000G>A (p.Val334Ile)
|
rs1273059968
|
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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)
|
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|
NM_001377.3(DYNC2H1):c.10445A>G (p.Gln3482Arg)
|
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|
NM_001377.3(DYNC2H1):c.10451C>G (p.Ser3484Cys)
|
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|
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)
|
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|
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
|
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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)
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|
|
NM_014714.4(IFT140):c.1432+5G>A
|
|
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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)
|
|
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NM_014714.4(IFT140):c.1490T>C (p.Val497Ala)
|
rs2141751314
|
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NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp)
|
|
|
NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe)
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|
|
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)
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|
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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)
|
|
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NM_014714.4(IFT140):c.154T>C (p.Cys52Arg)
|
rs886051770
|
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NM_014714.4(IFT140):c.1568A>T (p.Asn523Ile)
|
|
|
NM_014714.4(IFT140):c.1582G>C (p.Asp528His)
|
|
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NM_014714.4(IFT140):c.1641T>G (p.Asp547Glu)
|
|
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NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro)
|
rs762399912
|
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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
|
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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
|
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NM_014714.4(IFT140):c.172G>A (p.Val58Ile)
|
|
|
NM_014714.4(IFT140):c.1732AGC[4] (p.Ser580dup)
|
rs2141595569
|
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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
|
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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
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NM_147127.5(EVC2):c.3386C>A (p.Ala1129Glu)
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NM_147127.5(EVC2):c.3386C>T (p.Ala1129Val)
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NM_147127.5(EVC2):c.3395C>T (p.Ala1132Val)
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NM_147127.5(EVC2):c.3397A>C (p.Met1133Leu)
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NM_147127.5(EVC2):c.3397A>G (p.Met1133Val)
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NM_147127.5(EVC2):c.3410C>T (p.Ala1137Val)
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NM_147127.5(EVC2):c.3418C>T (p.Arg1140Cys)
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NM_147127.5(EVC2):c.3419G>A (p.Arg1140His)
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rs779684008
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NM_147127.5(EVC2):c.3421C>T (p.Arg1141Trp)
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NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
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NM_147127.5(EVC2):c.3436G>A (p.Val1146Ile)
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NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)
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NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
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NM_147127.5(EVC2):c.3506A>G (p.His1169Arg)
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NM_147127.5(EVC2):c.3524G>T (p.Gly1175Val)
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NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)
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NM_147127.5(EVC2):c.3544G>A (p.Val1182Met)
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NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu)
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NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu)
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rs144511301
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NM_147127.5(EVC2):c.3552G>T (p.Arg1184Ser)
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NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)
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NM_147127.5(EVC2):c.3554G>A (p.Arg1185Gln)
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NM_147127.5(EVC2):c.3604G>T (p.Asp1202Tyr)
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rs752599166
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NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)
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NM_147127.5(EVC2):c.3659+3A>C
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NM_147127.5(EVC2):c.3659+3A>G
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NM_147127.5(EVC2):c.3659+5T>C
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rs1722200321
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NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)
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NM_147127.5(EVC2):c.3689del (p.Arg1230fs)
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NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg)
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rs1399603571
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NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)
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NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)
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NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)
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NM_147127.5(EVC2):c.3778del (p.Ala1260fs)
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NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val)
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rs894829697
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NM_147127.5(EVC2):c.3787A>T (p.Ile1263Phe)
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NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)
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NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)
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NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)
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NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)
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NM_147127.5(EVC2):c.431C>T (p.Ser144Phe)
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NM_147127.5(EVC2):c.434C>A (p.Pro145His)
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NM_147127.5(EVC2):c.434C>G (p.Pro145Arg)
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NM_147127.5(EVC2):c.434C>T (p.Pro145Leu)
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NM_147127.5(EVC2):c.436A>G (p.Ile146Val)
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NM_147127.5(EVC2):c.445C>T (p.Arg149Cys)
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NM_147127.5(EVC2):c.49G>T (p.Gly17Cys)
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NM_147127.5(EVC2):c.509A>T (p.Lys170Ile)
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rs2151733915
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NM_147127.5(EVC2):c.550C>G (p.Arg184Gly)
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NM_147127.5(EVC2):c.555A>G (p.Ile185Met)
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rs2151731889
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NM_147127.5(EVC2):c.556T>C (p.Trp186Arg)
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rs1342830628
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NM_147127.5(EVC2):c.55C>A (p.Leu19Met)
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rs1722364834
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NM_147127.5(EVC2):c.566T>A (p.Val189Asp)
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NM_147127.5(EVC2):c.596A>G (p.Asn199Ser)
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rs567458437
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NM_147127.5(EVC2):c.610C>T (p.Leu204Phe)
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NM_147127.5(EVC2):c.616C>G (p.Leu206Val)
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NM_147127.5(EVC2):c.638C>T (p.Thr213Ile)
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rs2151731712
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NM_147127.5(EVC2):c.646G>A (p.Asp216Asn)
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NM_147127.5(EVC2):c.649T>C (p.Ser217Pro)
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NM_147127.5(EVC2):c.656G>A (p.Gly219Glu)
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rs1720935592
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NM_147127.5(EVC2):c.662G>A (p.Arg221Lys)
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NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)
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NM_147127.5(EVC2):c.706+6A>G
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NM_147127.5(EVC2):c.722C>T (p.Ala241Val)
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NM_147127.5(EVC2):c.734C>A (p.Ala245Glu)
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rs1720636458
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NM_147127.5(EVC2):c.740C>T (p.Thr247Met)
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NM_147127.5(EVC2):c.748G>A (p.Ala250Thr)
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NM_147127.5(EVC2):c.749C>T (p.Ala250Val)
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NM_147127.5(EVC2):c.760G>A (p.Gly254Arg)
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NM_147127.5(EVC2):c.766G>A (p.Gly256Arg)
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NM_147127.5(EVC2):c.787G>A (p.Ala263Thr)
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NM_147127.5(EVC2):c.797C>G (p.Thr266Ser)
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NM_147127.5(EVC2):c.797C>T (p.Thr266Ile)
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NM_147127.5(EVC2):c.80G>C (p.Gly27Ala)
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NM_147127.5(EVC2):c.83G>A (p.Arg28Gln)
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NM_147127.5(EVC2):c.844T>A (p.Ser282Thr)
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NM_147127.5(EVC2):c.845C>G (p.Ser282Cys)
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NM_147127.5(EVC2):c.845C>T (p.Ser282Phe)
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NM_147127.5(EVC2):c.847A>G (p.Ile283Val)
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NM_147127.5(EVC2):c.856G>A (p.Glu286Lys)
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NM_147127.5(EVC2):c.864C>G (p.Asn288Lys)
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rs144730069
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NM_147127.5(EVC2):c.865G>C (p.Val289Leu)
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NM_147127.5(EVC2):c.886G>A (p.Gly296Ser)
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NM_147127.5(EVC2):c.887G>T (p.Gly296Val)
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NM_147127.5(EVC2):c.938C>G (p.Thr313Ser)
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NM_147127.5(EVC2):c.950T>C (p.Leu317Pro)
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NM_147127.5(EVC2):c.960G>C (p.Met320Ile)
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NM_147127.5(EVC2):c.964C>T (p.Arg322Cys)
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NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
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NM_153717.3(EVC):c.104G>A (p.Gly35Asp)
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rs1560259105
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NM_153717.3(EVC):c.1050G>C (p.Met350Ile)
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rs1729670311
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NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
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NM_153717.3(EVC):c.1119G>A (p.Met373Ile)
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rs1397539769
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NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
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NM_153717.3(EVC):c.1141G>A (p.Val381Met)
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rs2152076238
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NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1])
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rs1164121689
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NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
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rs1164121689
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NM_153717.3(EVC):c.1186C>G (p.Arg396Gly)
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NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)
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NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)
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NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
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NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
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NM_153717.3(EVC):c.1226G>T (p.Gly409Val)
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rs1577440027
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NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
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NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
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NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
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NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
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NM_153717.3(EVC):c.1379C>T (p.Ala460Val)
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rs1309149029
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NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
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NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
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NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
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NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
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NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
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NM_153717.3(EVC):c.1493G>T (p.Arg498Met)
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rs1577453796
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NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
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NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
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NM_153717.3(EVC):c.1528G>C (p.Val510Leu)
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rs143971158
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NM_153717.3(EVC):c.1603G>A (p.Val535Met)
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rs753720935
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NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
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NM_153717.3(EVC):c.1623G>T (p.Gln541His)
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NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
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NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
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NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
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NM_153717.3(EVC):c.1652C>G (p.Pro551Arg)
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rs371682994
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NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
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NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
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NM_153717.3(EVC):c.1687G>A (p.Glu563Lys)
|
rs539010490
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NM_153717.3(EVC):c.1720C>G (p.Arg574Gly)
|
rs141820870
|
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NM_153717.3(EVC):c.1727G>T (p.Arg576Leu)
|
rs1383180
|
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NM_153717.3(EVC):c.1737G>T (p.Gln579His)
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NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)
|
rs1736003818
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NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
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NM_153717.3(EVC):c.1802C>T (p.Ser601Phe)
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rs1713205522
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NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
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NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
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NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
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NM_153717.3(EVC):c.1894C>T (p.Arg632Trp)
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NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)
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NM_153717.3(EVC):c.1895G>C (p.Arg632Pro)
|
rs535632933
|
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NM_153717.3(EVC):c.1907A>G (p.Gln636Arg)
|
rs757227773
|
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NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
|
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NM_153717.3(EVC):c.193C>A (p.Leu65Met)
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NM_153717.3(EVC):c.1940G>C (p.Arg647Pro)
|
rs35401386
|
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NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
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NM_153717.3(EVC):c.1972A>T (p.Thr658Ser)
|
rs1577616840
|
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NM_153717.3(EVC):c.2009T>A (p.Leu670His)
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NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
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NM_153717.3(EVC):c.2096T>C (p.Leu699Pro)
|
rs2152340934
|
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NM_153717.3(EVC):c.2104C>G (p.Arg702Gly)
|
rs545087909
|
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NM_153717.3(EVC):c.2105G>A (p.Arg702His)
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NM_153717.3(EVC):c.2131G>C (p.Glu711Gln)
|
rs1430134537
|
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NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
|
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NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
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NM_153717.3(EVC):c.218C>T (p.Ala73Val)
|
rs1361442490
|
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NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
|
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NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
|
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NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
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NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
|
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NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
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NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
|
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NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
|
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NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
|
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|
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)
|
rs773252806
|
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NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
|
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|
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser)
|
rs149537641
|
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NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
|
|
|
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
|
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NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
|
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|
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
|
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|
NM_153717.3(EVC):c.2449+5G>A
|
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NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
|
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NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
|
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|
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
|
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|
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser)
|
rs1446692986
|
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NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)
|
|
|
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)
|
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NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)
|
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|
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
|
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|
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
|
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|
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
|
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|
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
|
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|
NM_153717.3(EVC):c.2689-8C>G
|
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|
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
|
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|
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
|
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|
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln)
|
rs1489027267
|
|
NM_153717.3(EVC):c.2783-3C>A
|
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|
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
|
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|
NM_153717.3(EVC):c.2842del (p.Val948fs)
|
|
|
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
|
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|
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
|
|