NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
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_001377.3(DYNC2H1):c.9158G>A (p.Arg3053Gln)
|
rs183985095
|
0.00043
|
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln)
|
rs150370681
|
0.00039
|
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_001377.3(DYNC2H1):c.913G>A (p.Val305Met)
|
rs201188696
|
0.00020
|
NM_001377.3(DYNC2H1):c.1384C>T (p.Arg462Trp)
|
rs768459821
|
0.00019
|
NM_020800.3(IFT80):c.1826G>A (p.Arg609His)
|
rs540494495
|
0.00019
|
NM_020800.3(IFT80):c.634T>C (p.Tyr212His)
|
rs756009771
|
0.00016
|
NM_020800.3(IFT80):c.758G>A (p.Arg253His)
|
rs144738877
|
0.00015
|
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_020800.3(IFT80):c.655G>A (p.Gly219Ser)
|
rs201365447
|
0.00014
|
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser)
|
rs138081429
|
0.00014
|
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_001377.3(DYNC2H1):c.12268G>A (p.Val4090Ile)
|
rs376545196
|
0.00012
|
NM_001377.3(DYNC2H1):c.6697T>C (p.Ser2233Pro)
|
rs375988913
|
0.00012
|
NM_001377.3(DYNC2H1):c.10025G>A (p.Arg3342Gln)
|
rs755136217
|
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_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_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_020800.3(IFT80):c.1052C>T (p.Thr351Met)
|
rs199778285
|
0.00009
|
NM_020800.3(IFT80):c.707C>T (p.Ala236Val)
|
rs774857269
|
0.00009
|
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_020800.3(IFT80):c.192G>T (p.Trp64Cys)
|
rs151263345
|
0.00008
|
NM_020800.3(IFT80):c.691C>T (p.Pro231Ser)
|
rs149447674
|
0.00008
|
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_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_020800.3(IFT80):c.1205G>A (p.Arg402His)
|
rs147955112
|
0.00006
|
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser)
|
rs373671362
|
0.00006
|
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_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_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_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_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_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_001080463.2(DYNC2H1):c.9824T>C (p.Ile3275Thr)
|
rs377493103
|
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_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_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_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
|
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_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
|
|
|
NM_001080463.2(DYNC2H1):c.9820A>T (p.Ile3274Phe)
|
|
|
NM_001080463.2(DYNC2H1):c.9838T>C (p.Trp3280Arg)
|
rs2135218261
|
|
NM_001377.3(DYNC2H1):c.1000G>A (p.Val334Ile)
|
rs1273059968
|
|
NM_001377.3(DYNC2H1):c.10088A>G (p.Asn3363Ser)
|
|
|
NM_001377.3(DYNC2H1):c.10181CAA[1] (p.Thr3395del)
|
rs572595399
|
|
NM_001377.3(DYNC2H1):c.10183A>G (p.Thr3395Ala)
|
rs757061327
|
|
NM_001377.3(DYNC2H1):c.10184C>G (p.Thr3395Arg)
|
rs778720641
|
|
NM_001377.3(DYNC2H1):c.10206+6C>T
|
rs1591478542
|
|
NM_001377.3(DYNC2H1):c.10237C>G (p.Pro3413Ala)
|
rs786204223
|
|
NM_001377.3(DYNC2H1):c.10252C>A (p.Gln3418Lys)
|
rs543525711
|
|
NM_001377.3(DYNC2H1):c.10292T>C (p.Ile3431Thr)
|
rs1325471732
|
|
NM_001377.3(DYNC2H1):c.10314A>T (p.Glu3438Asp)
|
|
|
NM_001377.3(DYNC2H1):c.10345G>A (p.Gly3449Ser)
|
|
|
NM_001377.3(DYNC2H1):c.10445A>G (p.Gln3482Arg)
|
|
|
NM_001377.3(DYNC2H1):c.10451C>G (p.Ser3484Cys)
|
|
|
NM_001377.3(DYNC2H1):c.10465C>T (p.Arg3489Trp)
|
|
|
NM_001377.3(DYNC2H1):c.10495_10496delinsTT (p.Ala3499Phe)
|
rs2135267286
|
|
NM_001377.3(DYNC2H1):c.10549C>T (p.Arg3517Cys)
|
|
|
NM_001377.3(DYNC2H1):c.10600A>G (p.Lys3534Glu)
|
|
|
NM_001377.3(DYNC2H1):c.1066A>G (p.Ile356Val)
|
|
|
NM_001377.3(DYNC2H1):c.10684_10686del (p.Cys3562del)
|
rs2135273195
|
|
NM_001377.3(DYNC2H1):c.10808A>C (p.Lys3603Thr)
|
|
|
NM_001377.3(DYNC2H1):c.10826A>G (p.Lys3609Arg)
|
|
|
NM_001377.3(DYNC2H1):c.10856A>C (p.Asp3619Ala)
|
rs370414127
|
|
NM_001377.3(DYNC2H1):c.10865G>C (p.Arg3622Pro)
|
|
|
NM_001377.3(DYNC2H1):c.10910A>G (p.Tyr3637Cys)
|
|
|
NM_001377.3(DYNC2H1):c.10927G>A (p.Glu3643Lys)
|
|
|
NM_001377.3(DYNC2H1):c.10945C>A (p.Arg3649Ser)
|
rs763800155
|
|
NM_001377.3(DYNC2H1):c.10990A>G (p.Ile3664Val)
|
rs1866352347
|
|
NM_001377.3(DYNC2H1):c.1100G>A (p.Gly367Asp)
|
|
|
NM_001377.3(DYNC2H1):c.11312C>G (p.Ala3771Gly)
|
|
|
NM_001377.3(DYNC2H1):c.11315G>A (p.Arg3772His)
|
|
|
NM_001377.3(DYNC2H1):c.11348A>C (p.His3783Pro)
|
|
|
NM_001377.3(DYNC2H1):c.11383-5A>G
|
rs1867360884
|
|
NM_001377.3(DYNC2H1):c.11411C>G (p.Thr3804Ser)
|
rs779520771
|
|
NM_001377.3(DYNC2H1):c.11445C>T (p.Pro3815=)
|
|
|
NM_001377.3(DYNC2H1):c.11455C>G (p.Pro3819Ala)
|
|
|
NM_001377.3(DYNC2H1):c.11493G>A (p.Glu3831=)
|
rs778529441
|
|
NM_001377.3(DYNC2H1):c.11520A>T (p.Leu3840Phe)
|
|
|
NM_001377.3(DYNC2H1):c.11524C>T (p.Arg3842Cys)
|
|
|
NM_001377.3(DYNC2H1):c.11551C>A (p.Gln3851Lys)
|
|
|
NM_001377.3(DYNC2H1):c.11576A>T (p.His3859Leu)
|
|
|
NM_001377.3(DYNC2H1):c.11581G>T (p.Ala3861Ser)
|
|
|
NM_001377.3(DYNC2H1):c.11635A>G (p.Asn3879Asp)
|
|
|
NM_001377.3(DYNC2H1):c.11689C>T (p.Arg3897Trp)
|
|
|
NM_001377.3(DYNC2H1):c.11728G>T (p.Ala3910Ser)
|
|
|
NM_001377.3(DYNC2H1):c.11731A>G (p.Lys3911Glu)
|
rs2135437450
|
|
NM_001377.3(DYNC2H1):c.11786G>T (p.Gly3929Val)
|
|
|
NM_001377.3(DYNC2H1):c.11789G>A (p.Arg3930His)
|
|
|
NM_001377.3(DYNC2H1):c.11903C>G (p.Ser3968Cys)
|
rs1335936507
|
|
NM_001377.3(DYNC2H1):c.1194A>T (p.Lys398Asn)
|
rs2134714754
|
|
NM_001377.3(DYNC2H1):c.11959A>G (p.Ile3987Val)
|
rs558493613
|
|
NM_001377.3(DYNC2H1):c.1197A>G (p.Ile399Met)
|
|
|
NM_001377.3(DYNC2H1):c.12023G>A (p.Arg4008His)
|
|
|
NM_001377.3(DYNC2H1):c.12109T>G (p.Ser4037Ala)
|
|
|
NM_001377.3(DYNC2H1):c.12131T>C (p.Leu4044Pro)
|
rs1940457627
|
|
NM_001377.3(DYNC2H1):c.12172_12180del (p.His4058_Lys4060del)
|
rs1591686031
|
|
NM_001377.3(DYNC2H1):c.12338A>G (p.Lys4113Arg)
|
rs1420095948
|
|
NM_001377.3(DYNC2H1):c.12434T>C (p.Val4145Ala)
|
|
|
NM_001377.3(DYNC2H1):c.12470A>G (p.Lys4157Arg)
|
|
|
NM_001377.3(DYNC2H1):c.12482A>G (p.Gln4161Arg)
|
|
|
NM_001377.3(DYNC2H1):c.12484G>T (p.Ala4162Ser)
|
rs866777192
|
|
NM_001377.3(DYNC2H1):c.12485C>T (p.Ala4162Val)
|
|
|
NM_001377.3(DYNC2H1):c.12530A>G (p.Asp4177Gly)
|
|
|
NM_001377.3(DYNC2H1):c.12556G>A (p.Glu4186Lys)
|
rs764491760
|
|
NM_001377.3(DYNC2H1):c.12577C>T (p.Arg4193Cys)
|
|
|
NM_001377.3(DYNC2H1):c.12620G>A (p.Arg4207Gln)
|
|
|
NM_001377.3(DYNC2H1):c.12623T>G (p.Leu4208Arg)
|
|
|
NM_001377.3(DYNC2H1):c.12766G>C (p.Asp4256His)
|
rs772516163
|
|
NM_001377.3(DYNC2H1):c.12790G>A (p.Asp4264Asn)
|
|
|
NM_001377.3(DYNC2H1):c.12836G>A (p.Arg4279His)
|
|
|
NM_001377.3(DYNC2H1):c.1322G>A (p.Arg441Lys)
|
rs2134715900
|
|
NM_001377.3(DYNC2H1):c.1334T>C (p.Leu445Pro)
|
rs2134715945
|
|
NM_001377.3(DYNC2H1):c.1397T>A (p.Ile466Asn)
|
|
|
NM_001377.3(DYNC2H1):c.1399C>T (p.Pro467Ser)
|
rs1858702281
|
|
NM_001377.3(DYNC2H1):c.1454G>T (p.Ser485Ile)
|
rs779488462
|
|
NM_001377.3(DYNC2H1):c.145A>T (p.Met49Leu)
|
|
|
NM_001377.3(DYNC2H1):c.1485+4T>C
|
rs2134718326
|
|
NM_001377.3(DYNC2H1):c.1489G>A (p.Asp497Asn)
|
|
|
NM_001377.3(DYNC2H1):c.1504A>G (p.Ile502Val)
|
|
|
NM_001377.3(DYNC2H1):c.1614G>C (p.Trp538Cys)
|
|
|
NM_001377.3(DYNC2H1):c.1631C>T (p.Ser544Leu)
|
rs1858796228
|
|
NM_001377.3(DYNC2H1):c.1664T>G (p.Ile555Ser)
|
rs1858922505
|
|
NM_001377.3(DYNC2H1):c.1681A>G (p.Ile561Val)
|
|
|
NM_001377.3(DYNC2H1):c.1705G>C (p.Gly569Arg)
|
|
|
NM_001377.3(DYNC2H1):c.173C>G (p.Ala58Gly)
|
|
|
NM_001377.3(DYNC2H1):c.1755A>G (p.Glu585=)
|
|
|
NM_001377.3(DYNC2H1):c.1769C>T (p.Ser590Phe)
|
rs1269262525
|
|
NM_001377.3(DYNC2H1):c.1844T>C (p.Ile615Thr)
|
rs2134734586
|
|
NM_001377.3(DYNC2H1):c.1868T>C (p.Phe623Ser)
|
rs2134749282
|
|
NM_001377.3(DYNC2H1):c.1879A>G (p.Ile627Val)
|
|
|
NM_001377.3(DYNC2H1):c.192C>G (p.Asn64Lys)
|
|
|
NM_001377.3(DYNC2H1):c.195+5G>A
|
rs774148120
|
|
NM_001377.3(DYNC2H1):c.1A>G (p.Met1Val)
|
|
|
NM_001377.3(DYNC2H1):c.2050C>T (p.Arg684Trp)
|
|
|
NM_001377.3(DYNC2H1):c.2107G>T (p.Val703Leu)
|
|
|
NM_001377.3(DYNC2H1):c.2149C>A (p.Arg717Ser)
|
rs576204512
|
|
NM_001377.3(DYNC2H1):c.2150G>A (p.Arg717His)
|
|
|
NM_001377.3(DYNC2H1):c.216A>C (p.Lys72Asn)
|
|
|
NM_001377.3(DYNC2H1):c.2206-4T>G
|
|
|
NM_001377.3(DYNC2H1):c.2420T>C (p.Ile807Thr)
|
|
|
NM_001377.3(DYNC2H1):c.2423G>A (p.Gly808Asp)
|
|
|
NM_001377.3(DYNC2H1):c.2512A>G (p.Thr838Ala)
|
|
|
NM_001377.3(DYNC2H1):c.2533G>C (p.Asp845His)
|
rs879676957
|
|
NM_001377.3(DYNC2H1):c.2558T>C (p.Val853Ala)
|
rs1859514020
|
|
NM_001377.3(DYNC2H1):c.2564A>C (p.His855Pro)
|
rs762644833
|
|
NM_001377.3(DYNC2H1):c.2564A>G (p.His855Arg)
|
rs762644833
|
|
NM_001377.3(DYNC2H1):c.2570A>G (p.His857Arg)
|
|
|
NM_001377.3(DYNC2H1):c.2600_2602del (p.Asp867_Met868delinsVal)
|
rs2134829810
|
|
NM_001377.3(DYNC2H1):c.2624A>G (p.His875Arg)
|
|
|
NM_001377.3(DYNC2H1):c.2635G>A (p.Val879Ile)
|
|
|
NM_001377.3(DYNC2H1):c.2635G>C (p.Val879Leu)
|
|
|
NM_001377.3(DYNC2H1):c.2636T>C (p.Val879Ala)
|
|
|
NM_001377.3(DYNC2H1):c.2640T>G (p.His880Gln)
|
|
|
NM_001377.3(DYNC2H1):c.2641G>T (p.Asp881Tyr)
|
|
|
NM_001377.3(DYNC2H1):c.2647G>A (p.Glu883Lys)
|
|
|
NM_001377.3(DYNC2H1):c.2686G>T (p.Val896Leu)
|
|
|
NM_001377.3(DYNC2H1):c.269A>G (p.Asn90Ser)
|
|
|
NM_001377.3(DYNC2H1):c.2741C>G (p.Pro914Arg)
|
|
|
NM_001377.3(DYNC2H1):c.2780T>C (p.Phe927Ser)
|
|
|
NM_001377.3(DYNC2H1):c.2807A>G (p.Lys936Arg)
|
|
|
NM_001377.3(DYNC2H1):c.2939A>G (p.Lys980Arg)
|
|
|
NM_001377.3(DYNC2H1):c.3085A>G (p.Ile1029Val)
|
|
|
NM_001377.3(DYNC2H1):c.3127C>T (p.Arg1043Cys)
|
|
|
NM_001377.3(DYNC2H1):c.3440A>G (p.Glu1147Gly)
|
|
|
NM_001377.3(DYNC2H1):c.3454T>G (p.Phe1152Val)
|
rs1054675967
|
|
NM_001377.3(DYNC2H1):c.3457C>T (p.Arg1153Trp)
|
|
|
NM_001377.3(DYNC2H1):c.347T>C (p.Phe116Ser)
|
rs1020246530
|
|
NM_001377.3(DYNC2H1):c.3556G>A (p.Glu1186Lys)
|
|
|
NM_001377.3(DYNC2H1):c.3560T>C (p.Val1187Ala)
|
rs2134886800
|
|
NM_001377.3(DYNC2H1):c.35T>G (p.Phe12Cys)
|
|
|
NM_001377.3(DYNC2H1):c.3644G>T (p.Arg1215Leu)
|
|
|
NM_001377.3(DYNC2H1):c.3650T>C (p.Leu1217Pro)
|
rs2134890045
|
|
NM_001377.3(DYNC2H1):c.365A>C (p.Lys122Thr)
|
|
|
NM_001377.3(DYNC2H1):c.3678G>T (p.Glu1226Asp)
|
|
|
NM_001377.3(DYNC2H1):c.3700C>T (p.Leu1234Phe)
|
rs2134890455
|
|
NM_001377.3(DYNC2H1):c.3757C>A (p.Arg1253=)
|
|
|
NM_001377.3(DYNC2H1):c.3860G>A (p.Arg1287Gln)
|
|
|
NM_001377.3(DYNC2H1):c.3890A>G (p.Asp1297Gly)
|
|
|
NM_001377.3(DYNC2H1):c.3953A>G (p.Tyr1318Cys)
|
|
|
NM_001377.3(DYNC2H1):c.3995T>G (p.Leu1332Arg)
|
rs786204078
|
|
NM_001377.3(DYNC2H1):c.4099C>T (p.Arg1367Cys)
|
|
|
NM_001377.3(DYNC2H1):c.4100G>A (p.Arg1367His)
|
rs1482736503
|
|
NM_001377.3(DYNC2H1):c.4153G>T (p.Asp1385Tyr)
|
rs1860945774
|
|
NM_001377.3(DYNC2H1):c.4307A>G (p.Asp1436Gly)
|
rs1014987027
|
|
NM_001377.3(DYNC2H1):c.4394G>C (p.Cys1465Ser)
|
rs1861065835
|
|
NM_001377.3(DYNC2H1):c.43A>T (p.Thr15Ser)
|
|
|
NM_001377.3(DYNC2H1):c.4511C>T (p.Ala1504Val)
|
|
|
NM_001377.3(DYNC2H1):c.4532T>G (p.Leu1511Trp)
|
|
|
NM_001377.3(DYNC2H1):c.4567C>G (p.Arg1523Gly)
|
|
|
NM_001377.3(DYNC2H1):c.4568G>A (p.Arg1523Gln)
|
|
|
NM_001377.3(DYNC2H1):c.4574C>A (p.Ser1525Tyr)
|
|
|
NM_001377.3(DYNC2H1):c.463A>C (p.Asn155His)
|
|
|
NM_001377.3(DYNC2H1):c.4669G>A (p.Asp1557Asn)
|
rs2134944386
|
|
NM_001377.3(DYNC2H1):c.4696C>G (p.Gln1566Glu)
|
|
|
NM_001377.3(DYNC2H1):c.4729A>G (p.Ile1577Val)
|
|
|
NM_001377.3(DYNC2H1):c.4759A>G (p.Thr1587Ala)
|
|
|
NM_001377.3(DYNC2H1):c.4766C>T (p.Ser1589Leu)
|
|
|
NM_001377.3(DYNC2H1):c.4813C>T (p.His1605Tyr)
|
rs2134958830
|
|
NM_001377.3(DYNC2H1):c.4898A>G (p.Tyr1633Cys)
|
|
|
NM_001377.3(DYNC2H1):c.4919G>T (p.Cys1640Phe)
|
rs776388776
|
|
NM_001377.3(DYNC2H1):c.496A>G (p.Thr166Ala)
|
|
|
NM_001377.3(DYNC2H1):c.500G>A (p.Arg167Gln)
|
|
|
NM_001377.3(DYNC2H1):c.5014T>C (p.Tyr1672His)
|
|
|
NM_001377.3(DYNC2H1):c.5021C>G (p.Thr1674Ser)
|
|
|
NM_001377.3(DYNC2H1):c.503G>A (p.Gly168Asp)
|
|
|
NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro)
|
rs878854166
|
|
NM_001377.3(DYNC2H1):c.5141A>T (p.Asn1714Ile)
|
rs2134964404
|
|
NM_001377.3(DYNC2H1):c.5143T>A (p.Cys1715Ser)
|
|
|
NM_001377.3(DYNC2H1):c.517A>T (p.Ser173Cys)
|
|
|
NM_001377.3(DYNC2H1):c.5213G>T (p.Gly1738Val)
|
rs1209973260
|
|
NM_001377.3(DYNC2H1):c.5315G>A (p.Cys1772Tyr)
|
|
|
NM_001377.3(DYNC2H1):c.5390G>T (p.Gly1797Val)
|
|
|
NM_001377.3(DYNC2H1):c.5399G>A (p.Gly1800Glu)
|
rs1555056136
|
|
NM_001377.3(DYNC2H1):c.5417A>C (p.Asp1806Ala)
|
|
|
NM_001377.3(DYNC2H1):c.544C>G (p.Gln182Glu)
|
|
|
NM_001377.3(DYNC2H1):c.5486T>C (p.Ile1829Thr)
|
rs367807679
|
|
NM_001377.3(DYNC2H1):c.5511C>A (p.Asp1837Glu)
|
|
|
NM_001377.3(DYNC2H1):c.5548A>G (p.Asn1850Asp)
|
|
|
NM_001377.3(DYNC2H1):c.5585A>G (p.Tyr1862Cys)
|
|
|
NM_001377.3(DYNC2H1):c.5593G>A (p.Gly1865Ser)
|
|
|
NM_001377.3(DYNC2H1):c.5674+4T>G
|
|
|
NM_001377.3(DYNC2H1):c.5750G>A (p.Arg1917Gln)
|
|
|
NM_001377.3(DYNC2H1):c.5783G>A (p.Gly1928Glu)
|
rs1164274164
|
|
NM_001377.3(DYNC2H1):c.5786T>C (p.Ile1929Thr)
|
rs2134988923
|
|
NM_001377.3(DYNC2H1):c.5885C>G (p.Ala1962Gly)
|
rs2134994109
|
|
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val)
|
rs963717773
|
|
NM_001377.3(DYNC2H1):c.622G>A (p.Glu208Lys)
|
|
|
NM_001377.3(DYNC2H1):c.6311C>T (p.Pro2104Leu)
|
|
|
NM_001377.3(DYNC2H1):c.6335T>A (p.Met2112Lys)
|
rs2135001459
|
|
NM_001377.3(DYNC2H1):c.6336G>T (p.Met2112Ile)
|
|
|
NM_001377.3(DYNC2H1):c.635T>C (p.Leu212Ser)
|
|
|
NM_001377.3(DYNC2H1):c.6383C>T (p.Ser2128Phe)
|
|
|
NM_001377.3(DYNC2H1):c.6466G>A (p.Val2156Ile)
|
|
|
NM_001377.3(DYNC2H1):c.6512C>T (p.Thr2171Ile)
|
|
|
NM_001377.3(DYNC2H1):c.6559G>A (p.Glu2187Lys)
|
|
|
NM_001377.3(DYNC2H1):c.6560A>G (p.Glu2187Gly)
|
rs745882724
|
|
NM_001377.3(DYNC2H1):c.658G>T (p.Val220Phe)
|
rs1565311011
|
|
NM_001377.3(DYNC2H1):c.6626C>T (p.Thr2209Ile)
|
|
|
NM_001377.3(DYNC2H1):c.6694G>C (p.Asp2232His)
|
rs1555061008
|
|
NM_001377.3(DYNC2H1):c.6740A>G (p.Glu2247Gly)
|
|
|
NM_001377.3(DYNC2H1):c.6755A>G (p.Asp2252Gly)
|
|
|
NM_001377.3(DYNC2H1):c.6775A>G (p.Thr2259Ala)
|
|
|
NM_001377.3(DYNC2H1):c.6799G>A (p.Asp2267Asn)
|
rs2135029173
|
|
NM_001377.3(DYNC2H1):c.6803T>C (p.Met2268Thr)
|
|
|
NM_001377.3(DYNC2H1):c.6820T>G (p.Tyr2274Asp)
|
|
|
NM_001377.3(DYNC2H1):c.6925C>T (p.Arg2309Trp)
|
|
|
NM_001377.3(DYNC2H1):c.6958G>T (p.Ala2320Ser)
|
|
|
NM_001377.3(DYNC2H1):c.6974G>A (p.Arg2325Gln)
|
|
|
NM_001377.3(DYNC2H1):c.7121T>C (p.Leu2374Ser)
|
rs969682915
|
|
NM_001377.3(DYNC2H1):c.713C>G (p.Thr238Arg)
|
|
|
NM_001377.3(DYNC2H1):c.7141G>T (p.Val2381Leu)
|
rs757701499
|
|
NM_001377.3(DYNC2H1):c.7148C>T (p.Thr2383Met)
|
|
|
NM_001377.3(DYNC2H1):c.719A>G (p.His240Arg)
|
rs749778723
|
|
NM_001377.3(DYNC2H1):c.7216A>G (p.Met2406Val)
|
|
|
NM_001377.3(DYNC2H1):c.7273G>A (p.Val2425Ile)
|
|
|
NM_001377.3(DYNC2H1):c.728A>G (p.Tyr243Cys)
|
|
|
NM_001377.3(DYNC2H1):c.7293-3T>C
|
|
|
NM_001377.3(DYNC2H1):c.72G>A (p.Met24Ile)
|
|
|
NM_001377.3(DYNC2H1):c.731C>T (p.Pro244Leu)
|
rs768145132
|
|
NM_001377.3(DYNC2H1):c.7331C>T (p.Ala2444Val)
|
|
|
NM_001377.3(DYNC2H1):c.7368T>A (p.Asn2456Lys)
|
|
|
NM_001377.3(DYNC2H1):c.7495C>G (p.Leu2499Val)
|
rs878854167
|
|
NM_001377.3(DYNC2H1):c.7562A>C (p.Asp2521Ala)
|
|
|
NM_001377.3(DYNC2H1):c.7726T>C (p.Trp2576Arg)
|
|
|
NM_001377.3(DYNC2H1):c.772T>G (p.Ser258Ala)
|
rs1858479782
|
|
NM_001377.3(DYNC2H1):c.7839G>C (p.Lys2613Asn)
|
rs1325973305
|
|
NM_001377.3(DYNC2H1):c.8011A>G (p.Met2671Val)
|
|
|
NM_001377.3(DYNC2H1):c.8089-3C>A
|
rs1229906788
|
|
NM_001377.3(DYNC2H1):c.8107A>T (p.Ile2703Phe)
|
rs751064079
|
|
NM_001377.3(DYNC2H1):c.8113G>C (p.Ala2705Pro)
|
|
|
NM_001377.3(DYNC2H1):c.8198-3T>C
|
|
|
NM_001377.3(DYNC2H1):c.8225A>G (p.Glu2742Gly)
|
rs989892852
|
|
NM_001377.3(DYNC2H1):c.8243T>C (p.Leu2748Pro)
|
|
|
NM_001377.3(DYNC2H1):c.8309A>G (p.Tyr2770Cys)
|
|
|
NM_001377.3(DYNC2H1):c.8354C>A (p.Ala2785Glu)
|
|
|
NM_001377.3(DYNC2H1):c.8371A>G (p.Ile2791Val)
|
|
|
NM_001377.3(DYNC2H1):c.8504A>T (p.Asp2835Val)
|
rs540042560
|
|
NM_001377.3(DYNC2H1):c.8550T>G (p.Asp2850Glu)
|
rs1863164629
|
|
NM_001377.3(DYNC2H1):c.8593T>C (p.Tyr2865His)
|
|
|
NM_001377.3(DYNC2H1):c.8674A>C (p.Lys2892Gln)
|
|
|
NM_001377.3(DYNC2H1):c.8726C>T (p.Ala2909Val)
|
|
|
NM_001377.3(DYNC2H1):c.8773C>T (p.Leu2925Phe)
|
|
|
NM_001377.3(DYNC2H1):c.8822T>G (p.Val2941Gly)
|
rs923392944
|
|
NM_001377.3(DYNC2H1):c.8834A>T (p.Asp2945Val)
|
rs2135147476
|
|
NM_001377.3(DYNC2H1):c.9019C>T (p.Arg3007Cys)
|
|
|
NM_001377.3(DYNC2H1):c.905C>T (p.Thr302Ile)
|
rs1858489010
|
|
NM_001377.3(DYNC2H1):c.909T>A (p.Gly303=)
|
|
|
NM_001377.3(DYNC2H1):c.9139A>G (p.Ile3047Val)
|
rs2135153656
|
|
NM_001377.3(DYNC2H1):c.9187G>A (p.Val3063Ile)
|
|
|
NM_001377.3(DYNC2H1):c.922C>T (p.Arg308Cys)
|
|
|
NM_001377.3(DYNC2H1):c.9280A>C (p.Lys3094Gln)
|
|
|
NM_001377.3(DYNC2H1):c.9283G>A (p.Ala3095Thr)
|
|
|
NM_001377.3(DYNC2H1):c.9380A>G (p.Lys3127Arg)
|
|
|
NM_001377.3(DYNC2H1):c.938C>G (p.Pro313Arg)
|
|
|
NM_001377.3(DYNC2H1):c.9409G>T (p.Val3137Phe)
|
|
|
NM_001377.3(DYNC2H1):c.9526A>G (p.Ile3176Val)
|
|
|
NM_001377.3(DYNC2H1):c.954A>C (p.Lys318Asn)
|
|
|
NM_001377.3(DYNC2H1):c.9595A>G (p.Thr3199Ala)
|
|
|
NM_001377.3(DYNC2H1):c.962C>G (p.Pro321Arg)
|
|
|
NM_001377.3(DYNC2H1):c.9640C>A (p.Leu3214Ile)
|
|
|
NM_001377.3(DYNC2H1):c.9650C>T (p.Ala3217Val)
|
|
|
NM_001377.3(DYNC2H1):c.9905T>C (p.Val3302Ala)
|
rs1365232282
|
|
NM_001377.3(DYNC2H1):c.9918+3A>G
|
|
|
NM_001377.3(DYNC2H1):c.9948A>C (p.Leu3316Phe)
|
|
|
NM_001377.3(DYNC2H1):c.9983A>C (p.Glu3328Ala)
|
rs1864571633
|
|
NM_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
|
|