NM_001199397.3(NEK1):c.607-290G>A
|
rs4692733
|
0.99912
|
NM_001199397.3(NEK1):c.1562+170_1562+171dup
|
rs60346576
|
0.98682
|
NM_001199397.3(NEK1):c.*165G>A
|
rs4692721
|
0.91298
|
NM_001199397.3(NEK1):c.2764+213C>T
|
rs6553438
|
0.90381
|
NM_001199397.3(NEK1):c.2975-139G>A
|
rs4692723
|
0.79893
|
NM_001199397.3(NEK1):c.2975-303T>C
|
rs4692725
|
0.79881
|
NM_001199397.3(NEK1):c.1081-111A>T
|
rs10022479
|
0.73142
|
NM_001199397.3(NEK1):c.2885+220C>G
|
rs13151656
|
0.70070
|
NM_001199397.3(NEK1):c.2140-195A>G
|
rs6857243
|
0.46450
|
NM_001199397.3(NEK1):c.214+186G>A
|
rs4692570
|
0.45088
|
NM_001199397.3(NEK1):c.3223-311T>C
|
rs6835759
|
0.37030
|
NM_001199397.3(NEK1):c.3848-198C>T
|
rs13131146
|
0.35931
|
NM_001199397.3(NEK1):c.1833+40G>A
|
rs66509122
|
0.29801
|
NM_001199397.3(NEK1):c.606+124A>G
|
rs9993493
|
0.29272
|
NM_001199397.3(NEK1):c.868+39A>G
|
rs7670271
|
0.29253
|
NM_001199397.3(NEK1):c.868+143T>A
|
rs7665092
|
0.29249
|
NM_001199397.3(NEK1):c.1562+299C>G
|
rs10027406
|
0.29231
|
NM_001199397.3(NEK1):c.2140-69G>A
|
rs67794467
|
0.29197
|
NM_001199397.3(NEK1):c.1912-48C>A
|
rs6855803
|
0.28786
|
NM_001199397.3(NEK1):c.607-259T>C
|
rs60579393
|
0.21463
|
NM_001199397.3(NEK1):c.1911+23G>T
|
rs17054977
|
0.20092
|
NM_001199397.3(NEK1):c.3375-102G>A
|
rs4478142
|
0.17096
|
NM_001199397.3(NEK1):c.552-270A>G
|
rs72974758
|
0.09246
|
NM_001199397.3(NEK1):c.-48-89A>G
|
rs4257622
|
0.09153
|
NM_001199397.3(NEK1):c.606+259A>G
|
rs10007936
|
0.09143
|
NM_001199397.3(NEK1):c.1267-278A>G
|
rs10022807
|
0.09114
|
NM_001199397.3(NEK1):c.1267-205C>G
|
rs10028237
|
0.09049
|
NM_001199397.3(NEK1):c.869-252_869-250dup
|
rs534302932
|
0.09048
|
NM_001199397.3(NEK1):c.1068G>A (p.Arg356=)
|
rs17055010
|
0.07760
|
NM_001199397.3(NEK1):c.1020+288T>G
|
rs79618700
|
0.07759
|
NM_001199397.3(NEK1):c.551+199G>T
|
rs59269193
|
0.07752
|
NM_001199397.3(NEK1):c.1267-316T>C
|
rs74593341
|
0.07742
|
NM_001199397.3(NEK1):c.2588-66A>G
|
rs76012666
|
0.06281
|
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=)
|
rs17544885
|
0.05849
|
NM_001199397.3(NEK1):c.1876G>A (p.Ala626Thr)
|
rs33933790
|
0.05183
|
NM_001199397.3(NEK1):c.3583+230C>G
|
rs76032116
|
0.05127
|
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)
|
rs34540355
|
0.03694
|
NM_001199397.3(NEK1):c.868+164C>T
|
rs7686251
|
0.03158
|
NM_001199397.3(NEK1):c.2974+248C>G
|
rs111471788
|
0.02402
|
NM_001199397.3(NEK1):c.869-40A>G
|
rs74557505
|
0.02224
|
NM_001199397.3(NEK1):c.1749+197C>T
|
rs114868487
|
0.02008
|
NM_001199397.3(NEK1):c.868+22G>A
|
rs111989212
|
0.01670
|
NM_001199397.3(NEK1):c.312+195G>A
|
rs76717142
|
0.01613
|
NM_001199397.3(NEK1):c.2764+12T>A
|
rs77658514
|
0.01594
|
NM_001199397.3(NEK1):c.2885+92A>G
|
rs73864615
|
0.01518
|
NM_001199397.3(NEK1):c.1912-260A>T
|
rs73867833
|
0.01427
|
NM_001199397.3(NEK1):c.1665+239G>A
|
rs55741453
|
0.01424
|
NM_001199397.3(NEK1):c.396+131A>G
|
rs6553443
|
0.01419
|
NM_001199397.3(NEK1):c.1911+86A>G
|
rs145407222
|
0.01294
|
NM_001199397.3(NEK1):c.606+159C>T
|
rs115529181
|
0.01281
|
NM_001199397.3(NEK1):c.1267-181G>T
|
rs115624903
|
0.01280
|
NM_001199397.3(NEK1):c.1833+109G>A
|
rs75602067
|
0.01221
|
NM_001199397.3(NEK1):c.3584-280T>A
|
rs113997964
|
0.01203
|
NM_001199397.3(NEK1):c.1666-151T>C
|
rs114016854
|
0.01116
|
NM_001199397.3(NEK1):c.1834-222G>A
|
rs187185418
|
0.00888
|
NM_001199397.3(NEK1):c.117+95G>A
|
rs137904860
|
0.00835
|
NM_001199397.3(NEK1):c.551+217T>C
|
rs148867988
|
0.00779
|
NM_001199397.3(NEK1):c.396+41A>G
|
rs114106978
|
0.00752
|
NM_001199397.3(NEK1):c.313-250C>T
|
rs115368339
|
0.00751
|
NM_001199397.3(NEK1):c.868+87G>A
|
rs76478554
|
0.00733
|
NM_001199397.3(NEK1):c.1665+306A>G
|
rs186884729
|
0.00673
|
NM_001199397.3(NEK1):c.2140-158G>T
|
rs149923703
|
0.00673
|
NM_001199397.3(NEK1):c.2008-140_2008-139insATA
|
rs144585201
|
0.00578
|
NM_001199397.3(NEK1):c.2886-155T>G
|
rs143112624
|
0.00562
|
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=)
|
rs55740606
|
0.00560
|
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu)
|
rs6828134
|
0.00535
|
NM_001199397.3(NEK1):c.869-98T>C
|
rs150058797
|
0.00531
|
NM_001199397.3(NEK1):c.3375-174C>T
|
rs139974241
|
0.00495
|
NM_001199397.3(NEK1):c.1834-85T>C
|
rs116072569
|
0.00438
|
NM_001199397.3(NEK1):c.2885+142T>C
|
rs75739350
|
0.00435
|
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)
|
rs34324114
|
0.00417
|
NM_001199397.3(NEK1):c.3223-161A>T
|
rs147795888
|
0.00387
|
NM_001199397.3(NEK1):c.1563-152_1563-151del
|
rs544535343
|
0.00379
|
NM_001199397.3(NEK1):c.-48-181T>A
|
rs115462849
|
0.00323
|
NM_001199397.3(NEK1):c.1267-36A>G
|
rs149763070
|
0.00305
|
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=)
|
rs140408058
|
0.00301
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)
|
rs200161705
|
0.00216
|
NM_001199397.3(NEK1):c.1666-17C>T
|
rs183761065
|
0.00203
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)
|
rs10034957
|
0.00151
|
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)
|
rs184324310
|
0.00098
|
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=)
|
rs56252746
|
0.00080
|
NM_001199397.3(NEK1):c.277A>G (p.Asn93Asp)
|
rs201350526
|
0.00067
|
NM_001199397.3(NEK1):c.618C>A (p.Gly206=)
|
rs373174833
|
0.00066
|
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)
|
rs199827465
|
0.00063
|
NM_001199397.3(NEK1):c.214+6A>G
|
rs375956427
|
0.00056
|
NM_001199397.3(NEK1):c.2647T>C (p.Cys883Arg)
|
rs141491586
|
0.00056
|
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala)
|
rs371084271
|
0.00044
|
NM_001199397.3(NEK1):c.3047A>G (p.His1016Arg)
|
rs200619983
|
0.00038
|
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=)
|
rs200710438
|
0.00038
|
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=)
|
rs146569517
|
0.00024
|
NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu)
|
rs372585344
|
0.00019
|
NM_001199397.3(NEK1):c.2889G>A (p.Ser963=)
|
rs756830252
|
0.00018
|
NM_001199397.3(NEK1):c.1387G>A (p.Ala463Thr)
|
rs748009953
|
0.00014
|
NM_001199397.3(NEK1):c.162A>G (p.Val54=)
|
rs369056831
|
0.00014
|
NM_001199397.3(NEK1):c.292G>A (p.Val98Ile)
|
rs115005766
|
0.00014
|
NM_001199397.3(NEK1):c.594A>G (p.Thr198=)
|
rs373252814
|
0.00014
|
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)
|
rs35222922
|
0.00012
|
NM_001199397.3(NEK1):c.2067A>G (p.Thr689=)
|
rs757747641
|
0.00011
|
NM_001199397.3(NEK1):c.3562C>T (p.Leu1188=)
|
rs184270885
|
0.00011
|
NM_001199397.3(NEK1):c.912T>C (p.Pro304=)
|
rs139433990
|
0.00011
|
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=)
|
rs56346829
|
0.00009
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
NM_001199397.3(NEK1):c.1080+20G>A
|
rs192292678
|
0.00008
|
NM_001199397.3(NEK1):c.1080+4T>C
|
rs757527637
|
0.00008
|
NM_001199397.3(NEK1):c.1750-6T>C
|
rs187716707
|
0.00008
|
NM_001199397.3(NEK1):c.1942A>G (p.Lys648Glu)
|
rs371562840
|
0.00007
|
NM_001199397.3(NEK1):c.2474G>T (p.Gly825Val)
|
rs377203539
|
0.00006
|
NM_001199397.3(NEK1):c.2045C>T (p.Pro682Leu)
|
rs779634939
|
0.00005
|
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)
|
rs985064686
|
0.00004
|
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile)
|
rs776098853
|
0.00004
|
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly)
|
rs35763578
|
0.00003
|
NM_001199397.3(NEK1):c.1424C>G (p.Pro475Arg)
|
rs369081861
|
0.00003
|
NM_001199397.3(NEK1):c.2205+7A>G
|
rs760656122
|
0.00003
|
NM_001199397.3(NEK1):c.2879A>G (p.Glu960Gly)
|
rs913836342
|
0.00003
|
NM_001199397.3(NEK1):c.3159T>C (p.Asn1053=)
|
rs776651638
|
0.00003
|
NM_001199397.3(NEK1):c.426A>G (p.Val142=)
|
rs200769726
|
0.00003
|
NM_001199397.3(NEK1):c.2361G>A (p.Lys787=)
|
rs886042457
|
0.00002
|
NM_001199397.3(NEK1):c.252G>A (p.Glu84=)
|
rs752029300
|
0.00002
|
NM_001199397.3(NEK1):c.3420G>A (p.Ser1140=)
|
rs772760832
|
0.00002
|
NM_001199397.3(NEK1):c.3678C>G (p.Gly1226=)
|
rs778153481
|
0.00002
|
NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter)
|
rs773156346
|
0.00001
|
NM_001199397.3(NEK1):c.2190C>G (p.Thr730=)
|
rs200074295
|
0.00001
|
NM_001199397.3(NEK1):c.2199T>A (p.Ala733=)
|
rs780309602
|
0.00001
|
NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu)
|
rs752582295
|
0.00001
|
NM_001199397.3(NEK1):c.264G>A (p.Leu88=)
|
rs780568580
|
0.00001
|
NM_001199397.3(NEK1):c.3559G>A (p.Ala1187Thr)
|
rs772991635
|
0.00001
|
NM_001199397.3(NEK1):c.3848-10T>G
|
rs762040322
|
0.00001
|
NM_001199397.3(NEK1):c.593C>T (p.Thr198Ile)
|
rs1554075300
|
0.00001
|
NM_001199397.3(NEK1):c.777C>T (p.Ala259=)
|
rs1325143287
|
0.00001
|
NM_001199397.3(NEK1):c.781C>T (p.Arg261Cys)
|
rs191859401
|
0.00001
|
NM_001199397.3(NEK1):c.868+1G>C
|
rs897732893
|
0.00001
|
NM_001199397.3(NEK1):c.869-1G>T
|
rs794727032
|
0.00001
|
GRCh37/hg19 4q33(chr4:170463445-170535958)x1
|
|
|
NM_001199397.3(NEK1):c.-48-245A>T
|
rs187397276
|
|
NM_001199397.3(NEK1):c.1021-137del
|
rs11381394
|
|
NM_001199397.3(NEK1):c.1021-147dup
|
rs11381394
|
|
NM_001199397.3(NEK1):c.1021-81_1021-77del
|
rs201948240
|
|
NM_001199397.3(NEK1):c.1081-102del
|
rs34452581
|
|
NM_001199397.3(NEK1):c.1081-103_1081-102del
|
rs34452581
|
|
NM_001199397.3(NEK1):c.1081-122dup
|
rs141863651
|
|
NM_001199397.3(NEK1):c.1081-8dup
|
rs398124255
|
|
NM_001199397.3(NEK1):c.1122A>G (p.Glu374=)
|
|
|
NM_001199397.3(NEK1):c.1136A>G (p.Asp379Gly)
|
|
|
NM_001199397.3(NEK1):c.117+1G>A
|
rs794727285
|
|
NM_001199397.3(NEK1):c.117+88del
|
rs74673353
|
|
NM_001199397.3(NEK1):c.1266+277G>A
|
rs28446375
|
|
NM_001199397.3(NEK1):c.1266+277G>T
|
rs28446375
|
|
NM_001199397.3(NEK1):c.1293_1296dup (p.Ala433fs)
|
rs1355331355
|
|
NM_001199397.3(NEK1):c.1328A>G (p.Tyr443Cys)
|
|
|
NM_001199397.3(NEK1):c.1385A>T (p.Glu462Val)
|
|
|
NM_001199397.3(NEK1):c.1438C>T (p.Leu480=)
|
|
|
NM_001199397.3(NEK1):c.1513_1517del (p.Lys505fs)
|
rs1256306738
|
|
NM_001199397.3(NEK1):c.1666-260C>G
|
rs60370426
|
|
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs)
|
rs786205645
|
|
NM_001199397.3(NEK1):c.1833+158A>C
|
rs66858776
|
|
NM_001199397.3(NEK1):c.1833+158A>T
|
rs66858776
|
|
NM_001199397.3(NEK1):c.1912-68dup
|
rs372604613
|
|
NM_001199397.3(NEK1):c.1912-69C>A
|
rs11335570
|
|
NM_001199397.3(NEK1):c.1912-69del
|
rs370525243
|
|
NM_001199397.3(NEK1):c.1912-70C>A
|
rs28626053
|
|
NM_001199397.3(NEK1):c.1912-70_1912-69del
|
rs370525243
|
|
NM_001199397.3(NEK1):c.1912-71_1912-70insAAA
|
rs1437728267
|
|
NM_001199397.3(NEK1):c.2007+101del
|
rs11335571
|
|
NM_001199397.3(NEK1):c.214+134A>T
|
rs77826410
|
|
NM_001199397.3(NEK1):c.2159C>T (p.Thr720Ile)
|
|
|
NM_001199397.3(NEK1):c.2161C>G (p.Arg721Gly)
|
rs201726561
|
|
NM_001199397.3(NEK1):c.2316C>T (p.Ala772=)
|
rs1580012426
|
|
NM_001199397.3(NEK1):c.2343_2344del (p.Ser782fs)
|
rs2149549124
|
|
NM_001199397.3(NEK1):c.2434+69_2434+70del
|
rs547487676
|
|
NM_001199397.3(NEK1):c.244T>A (p.Tyr82Asn)
|
rs1017114230
|
|
NM_001199397.3(NEK1):c.2584A>G (p.Ser862Gly)
|
|
|
NM_001199397.3(NEK1):c.2588-12_2588-11del
|
rs374055570
|
|
NM_001199397.3(NEK1):c.2765-57A>G
|
rs13139925
|
|
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs)
|
rs752878896
|
|
NM_001199397.3(NEK1):c.2944A>T (p.Thr982Ser)
|
rs374918901
|
|
NM_001199397.3(NEK1):c.3222+72A>T
|
rs72691049
|
|
NM_001199397.3(NEK1):c.3223-120del
|
rs568558279
|
|
NM_001199397.3(NEK1):c.3289G>C (p.Val1097Leu)
|
rs374890006
|
|
NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter)
|
rs1732670701
|
|
NM_001199397.3(NEK1):c.3374+9A>G
|
|
|
NM_001199397.3(NEK1):c.3422T>C (p.Met1141Thr)
|
rs906114639
|
|
NM_001199397.3(NEK1):c.3451G>A (p.Glu1151Lys)
|
rs1064796596
|
|
NM_001199397.3(NEK1):c.3581dup (p.Asp1195fs)
|
rs1579301361
|
|
NM_001199397.3(NEK1):c.3584-270del
|
rs35743529
|
|
NM_001199397.3(NEK1):c.3584-281_3584-280dup
|
rs35743529
|
|
NM_001199397.3(NEK1):c.3584-281dup
|
rs35743529
|
|
NM_001199397.3(NEK1):c.3616G>T (p.Glu1206Ter)
|
rs1554020563
|
|
NM_001199397.3(NEK1):c.3727G>T (p.Asp1243Tyr)
|
|
|
NM_001199397.3(NEK1):c.397-15del
|
rs199717920
|
|
NM_001199397.3(NEK1):c.397-15dup
|
rs199717920
|
|
NM_001199397.3(NEK1):c.501A>T (p.Pro167=)
|
rs1580995784
|
|
NM_001199397.3(NEK1):c.551+236G>A
|
rs59387993
|
|
NM_001199397.3(NEK1):c.689A>G (p.Asp230Gly)
|
rs886043126
|
|
NM_001199397.3(NEK1):c.81C>T (p.Gly27=)
|
|
|
NM_001199397.3(NEK1):c.868G>C (p.Ala290Pro)
|
rs1319026163
|
|
NM_001199397.3(NEK1):c.869-250dup
|
rs34487354
|
|
NM_001199397.3(NEK1):c.89A>G (p.Tyr30Cys)
|
|
|
NM_001199397.3(NEK1):c.9G>A (p.Lys3=)
|
rs750123713
|
|
NM_012224.2(NEK1):c.-614C>A
|
rs10520157
|
|