NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=)
|
rs17394217
|
0.10011
|
NM_001377.3(DYNC2H1):c.5558+4A>G
|
rs11225578
|
0.09042
|
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr)
|
rs17301182
|
0.08896
|
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala)
|
rs17301750
|
0.08745
|
NM_001377.3(DYNC2H1):c.12457-6C>T
|
rs11225812
|
0.07031
|
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=)
|
rs17301028
|
0.06471
|
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu)
|
rs12146610
|
0.04434
|
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=)
|
rs77738279
|
0.03138
|
NM_001377.3(DYNC2H1):c.9353+7G>A
|
rs78309870
|
0.02821
|
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys)
|
rs72989738
|
0.02353
|
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln)
|
rs17099969
|
0.02244
|
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=)
|
rs74713170
|
0.01817
|
NM_001377.3(DYNC2H1):c.2818+13T>C
|
rs150786504
|
0.01790
|
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=)
|
rs116666272
|
0.01688
|
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)
|
rs118191062
|
0.01583
|
NM_001377.3(DYNC2H1):c.10327-53A>G
|
rs116174151
|
0.01569
|
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=)
|
rs75143468
|
0.01568
|
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=)
|
rs116574613
|
0.01532
|
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=)
|
rs116888435
|
0.01403
|
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=)
|
rs151056947
|
0.01339
|
NM_001377.3(DYNC2H1):c.195+7T>C
|
rs112718117
|
0.01205
|
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys)
|
rs61898615
|
0.01194
|
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg)
|
rs144717489
|
0.01113
|
NM_001377.3(DYNC2H1):c.6478-6C>T
|
rs114254215
|
0.01103
|
NM_001377.3(DYNC2H1):c.4968+18G>A
|
rs144263658
|
0.00894
|
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His)
|
rs115480556
|
0.00689
|
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=)
|
rs117178504
|
0.00672
|
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His)
|
rs116872934
|
0.00628
|
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr)
|
rs61737514
|
0.00612
|
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=)
|
rs144624858
|
0.00606
|
NM_001377.3(DYNC2H1):c.11726-10A>T
|
rs185916947
|
0.00561
|
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=)
|
rs78599571
|
0.00555
|
NM_001377.3(DYNC2H1):c.3097-4A>G
|
rs368802969
|
0.00476
|
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met)
|
rs146569005
|
0.00441
|
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)
|
rs142881106
|
0.00365
|
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=)
|
rs202082545
|
0.00344
|
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)
|
rs192003811
|
0.00327
|
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)
|
rs199568537
|
0.00317
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)
|
rs200342335
|
0.00236
|
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)
|
rs202071528
|
0.00219
|
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)
|
rs180787556
|
0.00212
|
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=)
|
rs371410128
|
0.00193
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_001377.3(DYNC2H1):c.5334+6G>A
|
rs372964069
|
0.00189
|
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe)
|
rs201563576
|
0.00172
|
NM_001377.3(DYNC2H1):c.6478-17C>T
|
rs61899765
|
0.00172
|
NM_001377.3(DYNC2H1):c.6894-4G>A
|
rs17100043
|
0.00168
|
NM_001377.3(DYNC2H1):c.12366+8A>G
|
rs200404815
|
0.00156
|
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)
|
rs140830294
|
0.00151
|
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00140
|
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)
|
rs370627443
|
0.00129
|
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=)
|
rs201310509
|
0.00128
|
NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys)
|
rs149452352
|
0.00121
|
NM_001377.3(DYNC2H1):c.12566+17A>G
|
rs187787132
|
0.00113
|
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)
|
rs137853026
|
0.00105
|
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)
|
rs201967064
|
0.00101
|
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg)
|
rs185613200
|
0.00099
|
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu)
|
rs142920070
|
0.00093
|
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)
|
rs200190291
|
0.00090
|
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val)
|
rs200170585
|
0.00090
|
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile)
|
rs189100009
|
0.00087
|
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=)
|
rs187451323
|
0.00081
|
NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val)
|
rs200961157
|
0.00081
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00081
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=)
|
rs375307767
|
0.00077
|
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly)
|
rs201829296
|
0.00076
|
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His)
|
rs191381310
|
0.00069
|
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val)
|
rs200208000
|
0.00064
|
NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg)
|
rs201252553
|
0.00064
|
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=)
|
rs79832792
|
0.00057
|
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)
|
rs373977008
|
0.00051
|
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln)
|
rs200326353
|
0.00050
|
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg)
|
rs369040584
|
0.00042
|
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=)
|
rs373707570
|
0.00039
|
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=)
|
rs201953670
|
0.00038
|
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro)
|
rs200460601
|
0.00035
|
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val)
|
rs199503535
|
0.00034
|
NM_001377.3(DYNC2H1):c.7576A>G (p.Ile2526Val)
|
rs187196207
|
0.00031
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)
|
rs199541807
|
0.00024
|
NM_001377.3(DYNC2H1):c.8311+10A>G
|
rs376842066
|
0.00024
|
NM_001377.3(DYNC2H1):c.10043-7T>A
|
rs376067770
|
0.00022
|
NM_001377.3(DYNC2H1):c.366+10G>A
|
rs200257097
|
0.00019
|
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=)
|
rs201863754
|
0.00019
|
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His)
|
rs200614421
|
0.00018
|
NM_001377.3(DYNC2H1):c.12457-13T>C
|
rs537890566
|
0.00017
|
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)
|
rs943680446
|
0.00016
|
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=)
|
rs144553338
|
0.00016
|
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr)
|
rs201003494
|
0.00015
|
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter)
|
rs181011657
|
0.00014
|
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp)
|
rs201479015
|
0.00013
|
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)
|
rs185504536
|
0.00013
|
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln)
|
rs564701277
|
0.00012
|
NM_001377.3(DYNC2H1):c.9231+12G>A
|
rs369045696
|
0.00012
|
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=)
|
rs377529350
|
0.00011
|
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)
|
rs552436294
|
0.00011
|
NM_001377.3(DYNC2H1):c.6139+7C>T
|
rs200749262
|
0.00011
|
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val)
|
rs139902197
|
0.00009
|
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val)
|
rs201224700
|
0.00009
|
NM_001377.3(DYNC2H1):c.8833-3T>C
|
rs551227065
|
0.00009
|
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)
|
rs771487311
|
0.00007
|
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His)
|
rs770380730
|
0.00006
|
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu)
|
rs189533535
|
0.00006
|
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr)
|
rs1196317554
|
0.00006
|
NM_001377.3(DYNC2H1):c.954A>G (p.Lys318=)
|
rs778594253
|
0.00006
|
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile)
|
rs771511132
|
0.00005
|
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His)
|
rs759549373
|
0.00004
|
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu)
|
rs757571550
|
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.7442G>A (p.Arg2481Gln)
|
rs781326398
|
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_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.7149G>A (p.Thr2383=)
|
rs553516014
|
0.00003
|
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg)
|
rs755505546
|
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_001377.3(DYNC2H1):c.10042+2T>G
|
rs1261505725
|
0.00002
|
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val)
|
rs760635983
|
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.3719T>C (p.Ile1240Thr)
|
rs137853028
|
0.00002
|
NM_001377.3(DYNC2H1):c.4127+10A>G
|
rs369188420
|
0.00002
|
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met)
|
rs751030969
|
0.00002
|
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser)
|
rs370669724
|
0.00002
|
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter)
|
rs1223863177
|
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_001377.3(DYNC2H1):c.1000-7A>G
|
rs745325616
|
0.00001
|
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter)
|
rs562139820
|
0.00001
|
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=)
|
rs199958495
|
0.00001
|
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=)
|
rs764926983
|
0.00001
|
NM_001377.3(DYNC2H1):c.12462G>C (p.Trp4154Cys)
|
rs1047872625
|
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.244C>T (p.Arg82Ter)
|
rs1249901214
|
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.4611+14C>T
|
rs766124250
|
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.5335-14A>G
|
rs372488002
|
0.00001
|
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=)
|
rs886047564
|
0.00001
|
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn)
|
rs756556129
|
0.00001
|
NM_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys)
|
rs750689118
|
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.7782A>G (p.Pro2594=)
|
rs886047566
|
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.8946+10A>C
|
rs550521675
|
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
|
GRCh37/hg19 11q22.3(chr11:103128365-103282924)x1
|
|
|
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.10152T>G (p.Ala3384=)
|
rs886047574
|
|
NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter)
|
rs1555082470
|
|
NM_001377.3(DYNC2H1):c.10606-14A>G
|
rs989023092
|
|
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.12581C>T (p.Ser4194Phe)
|
rs886042136
|
|
NM_001377.3(DYNC2H1):c.12766-7dup
|
rs747006567
|
|
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser)
|
rs1555143920
|
|
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter)
|
rs1565317399
|
|
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.2574+1G>A
|
rs1565329461
|
|
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs)
|
rs1555049536
|
|
NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs)
|
rs767206815
|
|
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.4553G>A (p.Cys1518Tyr)
|
rs1555053115
|
|
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs)
|
rs1565359085
|
|
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.5771A>T (p.Asp1924Val)
|
rs1565368733
|
|
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs)
|
rs1380132788
|
|
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala)
|
rs137853035
|
|
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu)
|
rs137853025
|
|
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.624_625delinsAA (p.Phe209Ile)
|
rs431905498
|
|
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.6387G>T (p.Trp2129Cys)
|
rs1332318318
|
|
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.7540+14G>A
|
rs115273161
|
|
NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del)
|
rs1555066796
|
|
NM_001377.3(DYNC2H1):c.7840-6dup
|
rs886047567
|
|
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.8190G>T (p.Leu2730Phe)
|
rs770800903
|
|
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)
|
rs1437320571
|
|
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.9638A>G (p.Tyr3213Cys)
|
rs923729821
|
|
NM_001377.3(DYNC2H1):c.9710-2A>G
|
rs1555077194
|
|
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer)
|
rs1218198013
|
|
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=)
|
rs886047572
|
|
Single allele
|
|
|