NM_001377.3(DYNC2H1):c.3097-4A>G
|
rs368802969
|
0.00476
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)
|
rs137853026
|
0.00105
|
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)
|
rs200190291
|
0.00090
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
NM_025103.4(IFT74):c.120+2dup
|
rs551515830
|
0.00048
|
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)
|
rs138004478
|
0.00043
|
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)
|
rs140757802
|
0.00041
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_015693.4(INTU):c.1628G>A (p.Arg543His)
|
rs34027211
|
0.00029
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys)
|
rs145672738
|
0.00024
|
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)
|
rs140202230
|
0.00023
|
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)
|
rs199952377
|
0.00019
|
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His)
|
rs200614421
|
0.00018
|
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)
|
rs943680446
|
0.00016
|
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter)
|
rs181011657
|
0.00014
|
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)
|
rs185504536
|
0.00013
|
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)
|
rs552436294
|
0.00011
|
NM_025129.5(FUZ):c.98_111+9del
|
rs548706733
|
0.00010
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)
|
rs79746977
|
0.00009
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)
|
rs771487311
|
0.00007
|
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
|
rs180747811
|
0.00007
|
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His)
|
rs770380730
|
0.00006
|
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr)
|
rs1196317554
|
0.00006
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln)
|
rs574017249
|
0.00006
|
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro)
|
rs150742619
|
0.00006
|
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)
|
rs377160857
|
0.00006
|
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile)
|
rs771511132
|
0.00005
|
NM_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp)
|
rs776300442
|
0.00005
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)
|
rs985064686
|
0.00004
|
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly)
|
rs368654019
|
0.00004
|
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys)
|
rs775426647
|
0.00004
|
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln)
|
rs761391585
|
0.00004
|
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)
|
rs1350329646
|
0.00004
|
NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter)
|
rs371940321
|
0.00004
|
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)
|
rs193204571
|
0.00004
|
NM_025132.4(WDR19):c.3565+1G>A
|
rs587777352
|
0.00004
|
NM_025132.4(WDR19):c.781dup (p.Thr261fs)
|
rs748656635
|
0.00004
|
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)
|
rs375644378
|
0.00004
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00004
|
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu)
|
rs368631447
|
0.00003
|
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg)
|
rs758727391
|
0.00003
|
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val)
|
rs369614706
|
0.00003
|
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg)
|
rs761765709
|
0.00003
|
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys)
|
rs755441612
|
0.00003
|
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter)
|
rs371011047
|
0.00003
|
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys)
|
rs745870321
|
0.00003
|
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys)
|
rs371214841
|
0.00003
|
NM_001377.3(DYNC2H1):c.9353+1G>A
|
rs776407305
|
0.00003
|
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter)
|
rs373924400
|
0.00003
|
NM_015650.4(TRAF3IP1):c.1368-1del
|
rs764906529
|
0.00003
|
NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys)
|
rs769651861
|
0.00003
|
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)
|
rs200649783
|
0.00003
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)
|
rs765269619
|
0.00003
|
NM_001199397.3(NEK1):c.214+1G>A
|
rs1049502301
|
0.00002
|
NM_001377.3(DYNC2H1):c.10042+2T>G
|
rs1261505725
|
0.00002
|
NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter)
|
rs369658526
|
0.00002
|
NM_001377.3(DYNC2H1):c.1360+2del
|
rs780539887
|
0.00002
|
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs)
|
rs755338872
|
0.00002
|
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met)
|
rs751030969
|
0.00002
|
NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu)
|
rs373521030
|
0.00002
|
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter)
|
rs137853032
|
0.00002
|
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln)
|
rs754049402
|
0.00002
|
NM_014714.4(IFT140):c.70C>T (p.His24Tyr)
|
rs939722027
|
0.00002
|
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys)
|
rs1227833863
|
0.00002
|
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)
|
rs376133710
|
0.00002
|
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp)
|
rs992324423
|
0.00001
|
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter)
|
rs758677637
|
0.00001
|
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg)
|
rs1301705612
|
0.00001
|
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter)
|
rs562139820
|
0.00001
|
NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs)
|
rs756811136
|
0.00001
|
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu)
|
rs770569272
|
0.00001
|
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)
|
rs137853030
|
0.00001
|
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter)
|
rs373335226
|
0.00001
|
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter)
|
rs755305630
|
0.00001
|
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp)
|
rs745569868
|
0.00001
|
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val)
|
rs1043384862
|
0.00001
|
NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys)
|
rs1461272672
|
0.00001
|
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn)
|
rs756556129
|
0.00001
|
NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro)
|
rs1555061205
|
0.00001
|
NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile)
|
rs1322884865
|
0.00001
|
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly)
|
rs1555062849
|
0.00001
|
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter)
|
rs537704873
|
0.00001
|
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser)
|
rs762588952
|
0.00001
|
NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser)
|
rs1555064376
|
0.00001
|
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met)
|
rs746195428
|
0.00001
|
NM_001377.3(DYNC2H1):c.767-2A>G
|
rs762873763
|
0.00001
|
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys)
|
rs758155107
|
0.00001
|
NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp)
|
rs964711006
|
0.00001
|
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln)
|
rs397514635
|
0.00001
|
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter)
|
rs747857715
|
0.00001
|
NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys)
|
rs969015057
|
0.00001
|
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn)
|
rs780600124
|
0.00001
|
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)
|
rs397514637
|
0.00001
|
NM_015650.4(TRAF3IP1):c.988-1G>C
|
rs372499275
|
0.00001
|
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)
|
rs750338419
|
0.00001
|
NM_018051.5(DYNC2I1):c.2284C>T (p.Arg762Ter)
|
rs1456300819
|
0.00001
|
NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs)
|
rs748645101
|
0.00001
|
NM_020779.4(WDR35):c.1400+3A>G
|
rs776631281
|
0.00001
|
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp)
|
rs1553516687
|
0.00001
|
NM_024753.5(TTC21B):c.1397C>A (p.Pro466His)
|
rs1453462442
|
0.00001
|
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr)
|
rs866222900
|
0.00001
|
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys)
|
rs759662469
|
0.00001
|
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu)
|
rs368721486
|
0.00001
|
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg)
|
rs1215108056
|
0.00001
|
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter)
|
rs772599282
|
0.00001
|
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser)
|
rs587777096
|
0.00001
|
NM_052844.4(DYNC2I2):c.1397A>C (p.Gln466Pro)
|
rs1554770620
|
0.00001
|
NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter)
|
rs751323441
|
0.00001
|
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)
|
rs555811074
|
0.00001
|
NM_147127.5(EVC2):c.1713dup (p.Asn572fs)
|
rs1553836165
|
0.00001
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly)
|
rs144776609
|
|
NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs)
|
rs1554053289
|
|
NM_001199397.3(NEK1):c.1868del (p.Ser623fs)
|
rs1362848762
|
|
NM_001199397.3(NEK1):c.1992del (p.Val665fs)
|
rs775849720
|
|
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs)
|
rs752878896
|
|
NM_001199397.3(NEK1):c.2886-1G>A
|
rs773496891
|
|
NM_001199397.3(NEK1):c.599_602del (p.Lys200fs)
|
rs1554075284
|
|
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys)
|
rs200710887
|
|
NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu)
|
rs1555081345
|
|
NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter)
|
rs1555082470
|
|
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter)
|
rs764769351
|
|
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser)
|
rs769053227
|
|
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs)
|
rs759649136
|
|
NM_001377.3(DYNC2H1):c.11597del (p.Ser3866fs)
|
rs1555098222
|
|
NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs)
|
rs1453448143
|
|
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs)
|
rs766816050
|
|
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser)
|
rs1555143920
|
|
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs)
|
rs748906528
|
|
NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del)
|
rs773897318
|
|
NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro)
|
rs555339053
|
|
NM_001377.3(DYNC2H1):c.1949T>A (p.Ile650Asn)
|
rs1555041449
|
|
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=)
|
rs1178331074
|
|
NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=)
|
rs896105030
|
|
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs)
|
rs1555042801
|
|
NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg)
|
rs774610143
|
|
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp)
|
rs1555043520
|
|
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs)
|
rs1555049536
|
|
NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His)
|
rs1555050986
|
|
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup)
|
rs1555051720
|
|
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr)
|
rs1555052511
|
|
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs)
|
rs1555052524
|
|
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr)
|
rs1555053115
|
|
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val)
|
rs901629870
|
|
NM_001377.3(DYNC2H1):c.4820T>A (p.Ile1607Asn)
|
rs1555054771
|
|
NM_001377.3(DYNC2H1):c.5129T>A (p.Val1710Asp)
|
rs777396565
|
|
NM_001377.3(DYNC2H1):c.5558+2T>C
|
rs762666243
|
|
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs)
|
rs1555056464
|
|
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs)
|
rs1380132788
|
|
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val)
|
rs963717773
|
|
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His)
|
rs1555057503
|
|
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser)
|
rs1555057838
|
|
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp)
|
rs753662982
|
|
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp)
|
rs1555057881
|
|
NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr)
|
rs780855765
|
|
NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu)
|
rs1555060411
|
|
NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe)
|
rs1243999036
|
|
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)
|
rs137853031
|
|
NM_001377.3(DYNC2H1):c.6634-2A>G
|
rs1555060940
|
|
NM_001377.3(DYNC2H1):c.6883T>C (p.Cys2295Arg)
|
rs1555061228
|
|
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr)
|
rs747348765
|
|
NM_001377.3(DYNC2H1):c.7268C>A (p.Ser2423Tyr)
|
rs1555062340
|
|
NM_001377.3(DYNC2H1):c.7438-2A>G
|
rs1555063811
|
|
NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His)
|
rs1386343205
|
|
NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del)
|
rs1555066796
|
|
NM_001377.3(DYNC2H1):c.7967G>T (p.Arg2656Leu)
|
rs200614421
|
|
NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu)
|
rs1214801816
|
|
NM_001377.3(DYNC2H1):c.8311+1G>A
|
rs1555068270
|
|
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs)
|
rs1555068636
|
|
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs)
|
rs1555070451
|
|
NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro)
|
rs1555071484
|
|
NM_001377.3(DYNC2H1):c.8769_8770del (p.Leu2924fs)
|
rs1555071503
|
|
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu)
|
rs794727767
|
|
NM_001377.3(DYNC2H1):c.9710-2A>G
|
rs1555077194
|
|
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer)
|
rs1218198013
|
|
NM_002296.4(LBR):c.1174G>A (p.Gly392Arg)
|
rs1236962991
|
|
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro)
|
rs373832683
|
|
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs)
|
rs587776909
|
|
NM_014714.4(IFT140):c.874G>A (p.Val292Met)
|
rs431905521
|
|
NM_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys)
|
rs146820102
|
|
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys)
|
rs76483206
|
|
NM_018051.5(DYNC2I1):c.2503_2505dup (p.Arg835dup)
|
rs1554478948
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val)
|
rs1553316926
|
|
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe)
|
rs1553753582
|
|
NM_020800.3(IFT80):c.487_490del (p.Leu163fs)
|
rs1553764834
|
|
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn)
|
rs372576954
|
|
NM_024753.5(TTC21B):c.1320del (p.Phe440fs)
|
rs775836730
|
|
NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer)
|
rs759648976
|
|
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro)
|
rs759086770
|
|
NM_025132.4(WDR19):c.3484-2A>C
|
rs1553918403
|
|
NM_025132.4(WDR19):c.3716+1G>A
|
rs1191056931
|
|
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr)
|
rs745603321
|
|
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn)
|
rs1451698951
|
|
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser)
|
rs1553905326
|
|
NM_052844.4(DYNC2I2):c.1060A>G (p.Thr354Ala)
|
rs1554771066
|
|
NM_052844.4(DYNC2I2):c.1567_1582del (p.Glu523fs)
|
rs1554770453
|
|
NM_052844.4(DYNC2I2):c.935T>C (p.Phe312Ser)
|
rs1554771175
|
|
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019
|
|
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs)
|
rs750396637
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)
|
rs755381180
|
|