NM_024577.4(SH3TC2):c.1002-119G>A
|
rs11168081
|
0.99465
|
NM_024577.4(SH3TC2):c.53-258G>T
|
rs36076
|
0.98442
|
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794
|
0.97933
|
NM_024577.4(SH3TC2):c.*3136G>A
|
rs1019927
|
0.97931
|
NM_024577.4(SH3TC2):c.*15823T>C
|
rs4562031
|
0.77381
|
NM_024577.4(SH3TC2):c.*18554G>T
|
rs10040598
|
0.76741
|
NM_024577.4(SH3TC2):c.*16950T>C
|
rs10040798
|
0.76017
|
NM_024577.4(SH3TC2):c.*17703A>G
|
rs4235739
|
0.59322
|
NM_024577.4(SH3TC2):c.*16020A>C
|
rs4543254
|
0.57641
|
NM_024577.4(SH3TC2):c.*11390A>G
|
rs3213854
|
0.52790
|
NM_024577.4(SH3TC2):c.*3077C>T
|
rs1045942
|
0.52772
|
NM_024577.4(SH3TC2):c.*5490G>A
|
rs1432795
|
0.52698
|
NM_024577.4(SH3TC2):c.53-161C>T
|
rs36077
|
0.52142
|
NM_024577.4(SH3TC2):c.*19040A>G
|
rs930205
|
0.51121
|
NM_024577.4(SH3TC2):c.386-195T>C
|
rs407696
|
0.49879
|
NM_024577.4(SH3TC2):c.*7292C>T
|
rs1347130
|
0.49144
|
NM_024577.4(SH3TC2):c.*14766T>A
|
rs891919
|
0.49105
|
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793
|
0.48793
|
NM_024577.4(SH3TC2):c.*16631G>A
|
rs4705303
|
0.45194
|
NM_024577.4(SH3TC2):c.3327+70C>T
|
rs1025476
|
0.40788
|
NM_024577.4(SH3TC2):c.3328-315G>A
|
rs1036191
|
0.39980
|
NM_024577.4(SH3TC2):c.*3196T>C
|
rs3763022
|
0.34686
|
NM_024577.4(SH3TC2):c.*929G>C
|
rs1432798
|
0.31381
|
NM_024577.4(SH3TC2):c.52+239C>T
|
rs40522
|
0.25014
|
NM_024577.4(SH3TC2):c.*8111A>C
|
rs17109205
|
0.24306
|
NM_024577.4(SH3TC2):c.3053+103G>A
|
rs10075404
|
0.24239
|
NM_024577.4(SH3TC2):c.*1909G>T
|
rs998304
|
0.23360
|
NM_024577.4(SH3TC2):c.*1639T>C
|
rs1007400
|
0.23355
|
NM_024577.4(SH3TC2):c.*5799C>T
|
rs17109208
|
0.23286
|
NM_024577.4(SH3TC2):c.3054-65T>C
|
rs11954893
|
0.23238
|
NM_024577.4(SH3TC2):c.3054-241G>A
|
rs55732303
|
0.22879
|
NM_024577.4(SH3TC2):c.*14562G>A
|
rs17109198
|
0.22872
|
NM_024577.4(SH3TC2):c.*14856C>A
|
rs891920
|
0.22858
|
NM_024577.4(SH3TC2):c.*2956C>T
|
rs3763020
|
0.22548
|
NM_024577.4(SH3TC2):c.*8248G>C
|
rs56309414
|
0.22436
|
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser)
|
rs6875902
|
0.22262
|
NM_024577.4(SH3TC2):c.3676-94C>A
|
rs1432799
|
0.21366
|
NM_024577.4(SH3TC2):c.*6436G>T
|
rs11168079
|
0.19789
|
NM_024577.4(SH3TC2):c.*719G>A
|
rs10050933
|
0.18073
|
NM_024577.4(SH3TC2):c.*5999G>A
|
rs79866394
|
0.16703
|
NM_024577.4(SH3TC2):c.3054-268A>G
|
rs1549907
|
0.16559
|
NM_024577.4(SH3TC2):c.2872+37A>G
|
rs17722209
|
0.16479
|
NM_024577.4(SH3TC2):c.*4719C>G
|
rs6885467
|
0.16464
|
NM_024577.4(SH3TC2):c.*1309C>T
|
rs1007401
|
0.16452
|
NM_024577.4(SH3TC2):c.*6692A>G
|
rs11168078
|
0.16452
|
NM_024577.4(SH3TC2):c.*17903A>G
|
rs76444127
|
0.16396
|
NM_024577.4(SH3TC2):c.*14621G>T
|
rs17795097
|
0.16395
|
NM_024577.4(SH3TC2):c.3205-340A>G
|
rs7704297
|
0.16102
|
NM_024577.4(SH3TC2):c.1135+197T>G
|
rs2304034
|
0.13526
|
NM_024577.4(SH3TC2):c.52+237G>A
|
rs62380066
|
0.12451
|
NM_024577.4(SH3TC2):c.529+178C>T
|
rs17795277
|
0.12117
|
NM_024577.4(SH3TC2):c.*10968G>A
|
rs13166730
|
0.11562
|
NM_024577.4(SH3TC2):c.*8756G>T
|
rs7733177
|
0.08504
|
NM_024577.4(SH3TC2):c.*19519G>A
|
rs10039839
|
0.07821
|
NM_024577.4(SH3TC2):c.3676-269G>C
|
rs1124473
|
0.07784
|
NM_024577.4(SH3TC2):c.*11852G>T
|
rs13359285
|
0.07778
|
NM_024577.4(SH3TC2):c.3676-251T>C
|
rs79910173
|
0.04322
|
NM_024577.4(SH3TC2):c.*1935T>C
|
rs6883926
|
0.04318
|
NM_024577.4(SH3TC2):c.3205-138G>A
|
rs77231639
|
0.04206
|
NM_024577.4(SH3TC2):c.*1944_*1946del
|
rs35447358
|
0.03577
|
NM_024577.4(SH3TC2):c.*1940_*1941insT
|
rs35713276
|
0.03576
|
NM_024577.4(SH3TC2):c.*21472A>G
|
rs59731646
|
0.03434
|
NM_024577.4(SH3TC2):c.2235T>G (p.Ala745=)
|
rs78120278
|
0.03339
|
NM_024577.4(SH3TC2):c.*17317G>A
|
rs78254952
|
0.03209
|
NM_024577.4(SH3TC2):c.*2397G>A
|
rs17722155
|
0.03207
|
NM_024577.4(SH3TC2):c.*3860G>A
|
rs1432797
|
0.03207
|
NM_024577.4(SH3TC2):c.*10485G>A
|
rs76931184
|
0.03206
|
NM_024577.4(SH3TC2):c.*6162C>T
|
rs17795115
|
0.03204
|
NM_024577.4(SH3TC2):c.*2900G>T
|
rs3763019
|
0.03116
|
NM_024577.4(SH3TC2):c.*11120G>A
|
rs2069087
|
0.03085
|
NM_024577.4(SH3TC2):c.*2428C>T
|
rs149384180
|
0.03078
|
NM_024577.4(SH3TC2):c.3327+119T>G
|
rs17641073
|
0.02924
|
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu)
|
rs17722293
|
0.02854
|
NM_024577.4(SH3TC2):c.*14411G>A
|
rs143623684
|
0.02369
|
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=)
|
rs17722227
|
0.02289
|
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile)
|
rs55853803
|
0.02130
|
NM_024577.4(SH3TC2):c.385+197G>A
|
rs140081959
|
0.01988
|
NM_024577.4(SH3TC2):c.2872+9G>A
|
rs76488338
|
0.01755
|
NM_024577.4(SH3TC2):c.*12969C>A
|
rs76955068
|
0.01682
|
NM_024577.4(SH3TC2):c.*18299C>T
|
rs147903089
|
0.01595
|
NM_024577.4(SH3TC2):c.*7810T>A
|
rs57517567
|
0.01532
|
NM_024577.4(SH3TC2):c.1002-118C>T
|
rs12163955
|
0.01425
|
NM_024577.4(SH3TC2):c.*14750A>G
|
rs149133999
|
0.01302
|
NM_024577.4(SH3TC2):c.*10767G>A
|
rs139720866
|
0.01293
|
NM_024577.4(SH3TC2):c.529+47C>T
|
rs75417523
|
0.01287
|
NM_024577.4(SH3TC2):c.*4279C>G
|
rs74578025
|
0.01256
|
NM_024577.4(SH3TC2):c.3054-299G>A
|
rs76629974
|
0.01146
|
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=)
|
rs77574155
|
0.01137
|
NM_024577.4(SH3TC2):c.805+170A>C
|
rs77636251
|
0.01108
|
NM_024577.4(SH3TC2):c.279+145G>A
|
rs148402978
|
0.01074
|
NM_024577.4(SH3TC2):c.*2237G>A
|
rs76481943
|
0.01060
|
NM_024577.4(SH3TC2):c.*14894G>A
|
rs17109192
|
0.01038
|
NM_024577.4(SH3TC2):c.*2952_*2955dup
|
rs200996128
|
0.00932
|
NM_024577.4(SH3TC2):c.*8533A>G
|
rs139372772
|
0.00891
|
NM_024577.4(SH3TC2):c.*6242A>G
|
rs142279453
|
0.00889
|
NM_024577.4(SH3TC2):c.*122G>T
|
rs114151926
|
0.00888
|
NM_024577.4(SH3TC2):c.*11604G>A
|
rs143229015
|
0.00876
|
NM_024577.4(SH3TC2):c.*8053G>A
|
rs115027318
|
0.00859
|
NM_024577.4(SH3TC2):c.*10864G>A
|
rs189701174
|
0.00853
|
NM_024577.4(SH3TC2):c.*12807G>A
|
rs150317192
|
0.00846
|
NM_024577.4(SH3TC2):c.*3694T>A
|
rs115774169
|
0.00844
|
NM_024577.4(SH3TC2):c.*16947C>T
|
rs142551288
|
0.00770
|
NM_024577.4(SH3TC2):c.530-55C>T
|
rs115896566
|
0.00734
|
NM_024577.4(SH3TC2):c.*4052T>C
|
rs147125913
|
0.00707
|
NM_024577.4(SH3TC2):c.3675+210T>A
|
rs17109233
|
0.00706
|
NM_024577.4(SH3TC2):c.3328-117C>T
|
rs73795736
|
0.00663
|
NM_024577.4(SH3TC2):c.*15489G>A
|
rs115194965
|
0.00652
|
NM_024577.4(SH3TC2):c.*6470T>C
|
rs185164450
|
0.00616
|
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)
|
rs80227512
|
0.00587
|
NM_024577.4(SH3TC2):c.*15061C>T
|
rs115722370
|
0.00585
|
NM_024577.4(SH3TC2):c.*16395G>T
|
rs116508083
|
0.00567
|
NM_024577.4(SH3TC2):c.*12190G>A
|
rs116091693
|
0.00555
|
NM_024577.4(SH3TC2):c.*20967G>A
|
rs115632195
|
0.00551
|
NM_024577.4(SH3TC2):c.*7948G>A
|
rs114097060
|
0.00550
|
NM_024577.4(SH3TC2):c.*13492A>G
|
rs116345946
|
0.00549
|
NM_024577.4(SH3TC2):c.3328-236T>C
|
rs115190093
|
0.00549
|
NM_024577.4(SH3TC2):c.732-196A>G
|
rs148150334
|
0.00538
|
NM_024577.4(SH3TC2):c.2868A>G (p.Leu956=)
|
rs115507662
|
0.00534
|
NM_024577.4(SH3TC2):c.*10101C>T
|
rs552099019
|
0.00533
|
NM_024577.4(SH3TC2):c.*10099A>T
|
rs570266229
|
0.00531
|
NM_024577.4(SH3TC2):c.3205-172G>A
|
rs151330685
|
0.00531
|
NM_024577.4(SH3TC2):c.*10052C>T
|
rs113802539
|
0.00525
|
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg)
|
rs17109261
|
0.00521
|
NM_024577.4(SH3TC2):c.*19270G>A
|
rs149188140
|
0.00516
|
NM_024577.4(SH3TC2):c.3676-290T>A
|
rs116235152
|
0.00514
|
NM_024577.4(SH3TC2):c.*2899_*2910del
|
rs199656364
|
0.00502
|
NM_024577.4(SH3TC2):c.*2862G>A
|
rs116548620
|
0.00495
|
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys)
|
rs73795753
|
0.00494
|
NM_024577.4(SH3TC2):c.*10120C>A
|
rs13355933
|
0.00493
|
NM_024577.4(SH3TC2):c.*47C>T
|
rs79738100
|
0.00493
|
NM_024577.4(SH3TC2):c.3675+278T>C
|
rs191597866
|
0.00492
|
NM_024577.4(SH3TC2):c.*7251A>G
|
rs73795731
|
0.00491
|
NM_024577.4(SH3TC2):c.*13514A>G
|
rs78516040
|
0.00490
|
NM_024577.4(SH3TC2):c.*16330G>A
|
rs80295748
|
0.00476
|
NM_024577.4(SH3TC2):c.*1246G>A
|
rs142628780
|
0.00469
|
NM_024577.4(SH3TC2):c.*6600T>C
|
rs115541211
|
0.00464
|
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=)
|
rs13436308
|
0.00462
|
NM_024577.4(SH3TC2):c.*16169G>A
|
rs191600511
|
0.00417
|
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val)
|
rs6874630
|
0.00407
|
NM_024577.4(SH3TC2):c.*3430T>A
|
rs184043381
|
0.00400
|
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val)
|
rs115577291
|
0.00390
|
NM_024577.4(SH3TC2):c.*8277G>A
|
rs147532508
|
0.00387
|
NM_024577.4(SH3TC2):c.1001+257del
|
rs552232271
|
0.00386
|
NM_024577.4(SH3TC2):c.*3061A>G
|
rs138823547
|
0.00372
|
NM_024577.4(SH3TC2):c.529+92T>C
|
rs142596521
|
0.00372
|
NM_024577.4(SH3TC2):c.*6051G>A
|
rs146293131
|
0.00361
|
NM_024577.4(SH3TC2):c.*21786G>A
|
rs6890482
|
0.00357
|
NM_024577.4(SH3TC2):c.*6301C>T
|
rs188143654
|
0.00337
|
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=)
|
rs193067884
|
0.00337
|
NM_024577.4(SH3TC2):c.*18606T>G
|
rs182775401
|
0.00336
|
NM_024577.4(SH3TC2):c.*5689A>C
|
rs537285537
|
0.00334
|
NM_024577.4(SH3TC2):c.529+294C>T
|
rs560697222
|
0.00332
|
NM_024577.4(SH3TC2):c.53-149T>C
|
rs141539240
|
0.00331
|
NM_024577.4(SH3TC2):c.*12550A>G
|
rs137953180
|
0.00330
|
NM_024577.4(SH3TC2):c.*5368C>T
|
rs189202481
|
0.00329
|
NM_024577.4(SH3TC2):c.152-70G>A
|
rs181983354
|
0.00323
|
NM_024577.4(SH3TC2):c.386-24A>T
|
rs147593465
|
0.00323
|
NM_024577.4(SH3TC2):c.*3079G>A
|
rs185297430
|
0.00322
|
NM_024577.4(SH3TC2):c.*6047T>A
|
rs139490756
|
0.00322
|
NM_024577.4(SH3TC2):c.*7918C>T
|
rs148732819
|
0.00322
|
NM_024577.4(SH3TC2):c.3478+113C>A
|
rs143281623
|
0.00322
|
NM_024577.4(SH3TC2):c.3053+266G>C
|
rs143211793
|
0.00321
|
NM_024577.4(SH3TC2):c.806-229G>T
|
rs149917269
|
0.00316
|
NM_024577.4(SH3TC2):c.*13204A>G
|
rs141603977
|
0.00315
|
NM_024577.4(SH3TC2):c.*5536T>G
|
rs146756049
|
0.00315
|
NM_024577.4(SH3TC2):c.731+65T>C
|
rs150219967
|
0.00315
|
NM_024577.4(SH3TC2):c.*16784C>T
|
rs144720540
|
0.00314
|
NM_024577.4(SH3TC2):c.*1750C>T
|
rs146276637
|
0.00314
|
NM_024577.4(SH3TC2):c.*5947C>G
|
rs143516557
|
0.00314
|
NM_024577.4(SH3TC2):c.*13230C>T
|
rs138600983
|
0.00313
|
NM_024577.4(SH3TC2):c.*22212G>A
|
rs149300520
|
0.00313
|
NM_024577.4(SH3TC2):c.*11010A>G
|
rs114735628
|
0.00312
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_024577.4(SH3TC2):c.*13598A>G
|
rs141011337
|
0.00299
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_024577.4(SH3TC2):c.*4298C>T
|
rs145849837
|
0.00296
|
NM_024577.4(SH3TC2):c.*13352G>A
|
rs192178726
|
0.00295
|
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=)
|
rs141289653
|
0.00290
|
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=)
|
rs138411915
|
0.00267
|
NM_024577.4(SH3TC2):c.3479-8A>G
|
rs147800229
|
0.00227
|
NM_024577.4(SH3TC2):c.*16056C>T
|
rs147906062
|
0.00226
|
NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=)
|
rs144016931
|
0.00213
|
NM_024577.4(SH3TC2):c.*15125C>G
|
rs181229340
|
0.00206
|
NM_024577.4(SH3TC2):c.*578C>T
|
rs567100275
|
0.00206
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_024577.4(SH3TC2):c.*13465C>A
|
rs186009343
|
0.00201
|
NM_024577.4(SH3TC2):c.*4638A>T
|
rs117883175
|
0.00201
|
NM_024577.4(SH3TC2):c.*7917A>G
|
rs546816780
|
0.00173
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
NM_024577.4(SH3TC2):c.*3058A>G
|
rs563916447
|
0.00168
|
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)
|
rs140985600
|
0.00166
|
NM_024577.4(SH3TC2):c.*15639A>G
|
rs190478262
|
0.00160
|
NM_024577.4(SH3TC2):c.*22357T>C
|
rs191754280
|
0.00158
|
NM_024577.4(SH3TC2):c.*20773G>T
|
rs113020040
|
0.00155
|
NM_024577.4(SH3TC2):c.*7006T>C
|
rs187720692
|
0.00154
|
NM_024577.4(SH3TC2):c.2873-18T>C
|
rs113514936
|
0.00154
|
NM_024577.4(SH3TC2):c.*10105C>T
|
rs753563756
|
0.00153
|
NM_024577.4(SH3TC2):c.*1982C>A
|
rs535127091
|
0.00153
|
NM_024577.4(SH3TC2):c.*391G>C
|
rs117139060
|
0.00153
|
NM_024577.4(SH3TC2):c.1177+10G>A
|
rs139257109
|
0.00153
|
NM_024577.4(SH3TC2):c.*20882A>G
|
rs112269889
|
0.00150
|
NM_024577.4(SH3TC2):c.*21658A>G
|
rs145964634
|
0.00146
|
NM_024577.4(SH3TC2):c.*1720T>A
|
rs148473467
|
0.00143
|
NM_024577.4(SH3TC2):c.*2361A>T
|
rs146327509
|
0.00137
|
NM_024577.4(SH3TC2):c.*4935A>T
|
rs149921013
|
0.00135
|
NM_024577.4(SH3TC2):c.*13645C>T
|
rs180704051
|
0.00133
|
NM_024577.4(SH3TC2):c.*797A>G
|
rs140821223
|
0.00133
|
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=)
|
rs117804174
|
0.00133
|
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676
|
0.00133
|
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr)
|
rs10066882
|
0.00128
|
NM_024577.4(SH3TC2):c.*2081T>G
|
rs543206033
|
0.00127
|
NM_024577.4(SH3TC2):c.*39A>C
|
rs76579569
|
0.00127
|
NM_024577.4(SH3TC2):c.*4555A>G
|
rs117287440
|
0.00126
|
NM_024577.4(SH3TC2):c.*4691C>T
|
rs574710725
|
0.00126
|
NM_024577.4(SH3TC2):c.*18476T>C
|
rs185251230
|
0.00125
|
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=)
|
rs17795193
|
0.00125
|
NM_024577.4(SH3TC2):c.*3202T>C
|
rs188625202
|
0.00120
|
NM_024577.4(SH3TC2):c.*16928A>G
|
rs760134609
|
0.00118
|
NM_024577.4(SH3TC2):c.1195T>C (p.Phe399Leu)
|
rs144764160
|
0.00118
|
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val)
|
rs148321018
|
0.00117
|
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276
|
0.00114
|
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=)
|
rs140904010
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_024577.4(SH3TC2):c.*2987C>T
|
rs565331463
|
0.00106
|
NM_024577.4(SH3TC2):c.*2269G>T
|
rs575693285
|
0.00103
|
NM_024577.4(SH3TC2):c.*5277G>T
|
rs529868327
|
0.00099
|
NM_024577.4(SH3TC2):c.*9361C>T
|
rs573872364
|
0.00096
|
NM_024577.4(SH3TC2):c.*19002A>G
|
rs546701780
|
0.00091
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
NM_024577.4(SH3TC2):c.*18699T>G
|
rs117371981
|
0.00086
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
NM_024577.4(SH3TC2):c.*4131T>C
|
rs141113906
|
0.00084
|
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910
|
0.00083
|
NM_024577.4(SH3TC2):c.*12111C>A
|
rs930165203
|
0.00082
|
NM_024577.4(SH3TC2):c.*10113T>C
|
rs908427102
|
0.00081
|
NM_024577.4(SH3TC2):c.*711A>C
|
rs567593663
|
0.00079
|
NM_024577.4(SH3TC2):c.*16378C>A
|
rs144423228
|
0.00077
|
NM_024577.4(SH3TC2):c.*1917C>T
|
rs561485632
|
0.00076
|
NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro)
|
rs77636085
|
0.00075
|
NM_024577.4(SH3TC2):c.*4713G>A
|
rs191742061
|
0.00074
|
NM_024577.4(SH3TC2):c.3644G>A (p.Arg1215His)
|
rs145390629
|
0.00074
|
NM_024577.4(SH3TC2):c.*9504G>A
|
rs17722113
|
0.00073
|
NM_024577.4(SH3TC2):c.*11589C>T
|
rs189059447
|
0.00072
|
NM_024577.4(SH3TC2):c.*9503C>T
|
rs533786708
|
0.00072
|
NM_024577.4(SH3TC2):c.*17662T>C
|
rs556308084
|
0.00070
|
NM_024577.4(SH3TC2):c.*11427G>A
|
rs535822101
|
0.00067
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_024577.4(SH3TC2):c.*10111T>C
|
rs943889013
|
0.00066
|
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala)
|
rs10077543
|
0.00063
|
NM_024577.4(SH3TC2):c.*20935C>G
|
rs769773057
|
0.00061
|
NM_024577.4(SH3TC2):c.*9830C>T
|
rs557247993
|
0.00061
|
NM_024577.4(SH3TC2):c.*6993T>C
|
rs563203537
|
0.00057
|
NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=)
|
rs200665714
|
0.00056
|
NM_024577.4(SH3TC2):c.3456C>T (p.Ala1152=)
|
rs530810802
|
0.00053
|
NM_024577.4(SH3TC2):c.*10177T>A
|
rs149759395
|
0.00052
|
NM_024577.4(SH3TC2):c.*1765G>C
|
rs144178710
|
0.00052
|
NM_024577.4(SH3TC2):c.*21539T>C
|
rs542529184
|
0.00052
|
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273
|
0.00051
|
NM_024577.4(SH3TC2):c.*9969_*9972del
|
rs113518050
|
0.00048
|
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)
|
rs140307699
|
0.00047
|
NM_024577.4(SH3TC2):c.*9953C>T
|
rs535186520
|
0.00046
|
NM_024577.4(SH3TC2):c.257A>G (p.Gln86Arg)
|
rs138429238
|
0.00046
|
NM_024577.4(SH3TC2):c.*21703G>A
|
rs761390238
|
0.00045
|
NM_024577.4(SH3TC2):c.1768G>A (p.Ala590Thr)
|
rs149244124
|
0.00045
|
NM_024577.4(SH3TC2):c.*2004A>G
|
rs111746123
|
0.00044
|
NM_024577.4(SH3TC2):c.*7939C>A
|
rs144288040
|
0.00044
|
NM_024577.4(SH3TC2):c.*12710G>A
|
rs537800973
|
0.00043
|
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852
|
0.00043
|
NM_024577.4(SH3TC2):c.*6350G>A
|
rs184940808
|
0.00041
|
NM_024577.4(SH3TC2):c.*6820T>C
|
rs60176324
|
0.00041
|
NM_024577.4(SH3TC2):c.*4511T>C
|
rs578024597
|
0.00040
|
NM_024577.4(SH3TC2):c.*9972T>C
|
rs778531473
|
0.00040
|
NM_024577.4(SH3TC2):c.*1616C>T
|
rs758753462
|
0.00039
|
NM_024577.4(SH3TC2):c.*2248A>G
|
rs187399485
|
0.00039
|
NM_024577.4(SH3TC2):c.*15235A>G
|
rs145210501
|
0.00038
|
NM_024577.4(SH3TC2):c.2385C>T (p.Ser795=)
|
rs145345364
|
0.00038
|
NM_024577.4(SH3TC2):c.*9969T>C
|
rs761191045
|
0.00037
|
NM_024577.4(SH3TC2):c.1522G>A (p.Val508Met)
|
rs148155691
|
0.00036
|
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln)
|
rs751621364
|
0.00036
|
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser)
|
rs141783628
|
0.00036
|
NM_024577.4(SH3TC2):c.1172T>G (p.Leu391Arg)
|
rs141544031
|
0.00035
|
NM_024577.4(SH3TC2):c.2306A>G (p.Glu769Gly)
|
rs151317042
|
0.00034
|
NM_024577.4(SH3TC2):c.2919G>A (p.Val973=)
|
rs145528276
|
0.00034
|
NM_024577.4(SH3TC2):c.*837G>A
|
rs565462353
|
0.00033
|
NM_024577.4(SH3TC2):c.3017C>T (p.Ser1006Phe)
|
rs144733764
|
0.00033
|
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)
|
rs149873249
|
0.00032
|
NM_024577.4(SH3TC2):c.1443C>T (p.Asp481=)
|
rs146666910
|
0.00031
|
NM_024577.4(SH3TC2):c.*21728T>C
|
rs142485824
|
0.00030
|
NM_024577.4(SH3TC2):c.*12509T>C
|
rs550901114
|
0.00028
|
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732
|
0.00028
|
NM_024577.4(SH3TC2):c.*44G>A
|
rs200095406
|
0.00027
|
NM_024577.4(SH3TC2):c.*4603C>T
|
rs144955630
|
0.00027
|
NM_024577.4(SH3TC2):c.*6623G>A
|
rs78100143
|
0.00027
|
NM_024577.4(SH3TC2):c.*882G>A
|
rs775429372
|
0.00027
|
NM_024577.4(SH3TC2):c.*2716T>C
|
rs577940138
|
0.00026
|
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)
|
rs140829706
|
0.00026
|
NM_024577.4(SH3TC2):c.385+3A>G
|
rs184593694
|
0.00026
|
NM_024577.4(SH3TC2):c.*10546C>T
|
rs186003687
|
0.00025
|
NM_024577.4(SH3TC2):c.*626G>A
|
rs781581124
|
0.00025
|
NM_024577.4(SH3TC2):c.*14827T>A
|
rs569378409
|
0.00024
|
NM_024577.4(SH3TC2):c.*19438C>A
|
rs533701005
|
0.00024
|
NM_024577.4(SH3TC2):c.*10064C>T
|
rs904197605
|
0.00023
|
NM_024577.4(SH3TC2):c.*5741G>A
|
rs538159827
|
0.00023
|
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=)
|
rs139898175
|
0.00023
|
NM_024577.4(SH3TC2):c.1240G>A (p.Val414Met)
|
rs138303846
|
0.00022
|
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=)
|
rs117860293
|
0.00021
|
NM_024577.4(SH3TC2):c.*15967C>T
|
rs139941418
|
0.00020
|
NM_024577.4(SH3TC2):c.1839C>T (p.Leu613=)
|
rs182893450
|
0.00019
|
NM_024577.4(SH3TC2):c.1788T>A (p.Gly596=)
|
rs141893132
|
0.00018
|
NM_024577.4(SH3TC2):c.2715C>G (p.Leu905=)
|
rs141789598
|
0.00018
|
NM_024577.4(SH3TC2):c.87G>A (p.Ser29=)
|
rs148793803
|
0.00018
|
NM_024577.4(SH3TC2):c.*12189C>T
|
rs192729911
|
0.00017
|
NM_024577.4(SH3TC2):c.*8649A>G
|
rs914913642
|
0.00017
|
NM_024577.4(SH3TC2):c.*11621G>A
|
rs886060128
|
0.00016
|
NM_024577.4(SH3TC2):c.*19411T>C
|
rs780022559
|
0.00016
|
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His)
|
rs138040787
|
0.00016
|
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)
|
rs575937427
|
0.00016
|
NM_024577.4(SH3TC2):c.*13418G>T
|
rs544487653
|
0.00015
|
NM_024577.4(SH3TC2):c.*20966T>G
|
rs532239431
|
0.00015
|
NM_024577.4(SH3TC2):c.*2394C>T
|
rs368101139
|
0.00015
|
NM_024577.4(SH3TC2):c.831G>A (p.Thr277=)
|
rs750308484
|
0.00015
|
NM_024577.4(SH3TC2):c.*1545A>G
|
rs898075581
|
0.00014
|
NM_024577.4(SH3TC2):c.1329G>A (p.Glu443=)
|
rs150135768
|
0.00014
|
NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln)
|
rs369977771
|
0.00014
|
NM_024577.4(SH3TC2):c.*15383C>A
|
rs186004627
|
0.00013
|
NM_024577.4(SH3TC2):c.*2500C>A
|
rs559833500
|
0.00013
|
NM_024577.4(SH3TC2):c.*3903A>G
|
rs750071171
|
0.00013
|
NM_024577.4(SH3TC2):c.*5304G>A
|
rs886060171
|
0.00013
|
NM_024577.4(SH3TC2):c.*7391A>C
|
rs886060159
|
0.00013
|
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)
|
rs142971473
|
0.00013
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00013
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
NM_024577.4(SH3TC2):c.3305A>G (p.His1102Arg)
|
rs187975909
|
0.00013
|
NM_024577.4(SH3TC2):c.836A>G (p.Tyr279Cys)
|
rs200215156
|
0.00013
|
NM_024577.4(SH3TC2):c.*14429T>G
|
rs577465518
|
0.00012
|
NM_024577.4(SH3TC2):c.*14480A>G
|
rs564255234
|
0.00012
|
NM_024577.4(SH3TC2):c.*4182A>G
|
rs886060177
|
0.00012
|
NM_024577.4(SH3TC2):c.*5748G>A
|
rs1038952809
|
0.00012
|
NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser)
|
rs200819602
|
0.00012
|
NM_024577.4(SH3TC2):c.*12088_*12091del
|
rs886060127
|
0.00011
|
NM_024577.4(SH3TC2):c.*19019T>C
|
rs777292025
|
0.00011
|
NM_024577.4(SH3TC2):c.*8878T>A
|
rs886060151
|
0.00011
|
NM_024577.4(SH3TC2):c.1097C>G (p.Thr366Ser)
|
rs769250455
|
0.00011
|
NM_024577.4(SH3TC2):c.1326G>A (p.Pro442=)
|
rs138967360
|
0.00011
|
NM_024577.4(SH3TC2):c.1853A>G (p.Tyr618Cys)
|
rs772780166
|
0.00011
|
NM_024577.4(SH3TC2):c.2286C>T (p.Ile762=)
|
rs766340169
|
0.00011
|
NM_024577.4(SH3TC2):c.*10875T>C
|
rs184560843
|
0.00010
|
NM_024577.4(SH3TC2):c.*11542G>A
|
rs886060130
|
0.00010
|
NM_024577.4(SH3TC2):c.*15824G>A
|
rs530880070
|
0.00010
|
NM_024577.4(SH3TC2):c.*5740C>T
|
rs886060167
|
0.00010
|
NM_024577.4(SH3TC2):c.1106G>A (p.Arg369His)
|
rs551803988
|
0.00010
|
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys)
|
rs747938069
|
0.00010
|
NM_024577.4(SH3TC2):c.2273C>A (p.Ala758Asp)
|
rs200006756
|
0.00010
|
NM_024577.4(SH3TC2):c.3013G>A (p.Glu1005Lys)
|
rs147895061
|
0.00010
|
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn)
|
rs150805608
|
0.00010
|
NM_024577.4(SH3TC2):c.529+8T>A
|
rs780594631
|
0.00010
|
NM_024577.4(SH3TC2):c.894C>T (p.Ile298=)
|
rs779808918
|
0.00010
|
NM_024577.4(SH3TC2):c.*10132A>G
|
rs886060138
|
0.00009
|
NM_024577.4(SH3TC2):c.*10863C>T
|
rs181346624
|
0.00009
|
NM_024577.4(SH3TC2):c.*14985A>G
|
rs886060116
|
0.00009
|
NM_024577.4(SH3TC2):c.*16590A>G
|
rs564063667
|
0.00009
|
NM_024577.4(SH3TC2):c.*21395T>C
|
rs886060094
|
0.00009
|
NM_024577.4(SH3TC2):c.*22034C>T
|
rs886060093
|
0.00009
|
NM_024577.4(SH3TC2):c.*9026A>T
|
rs1000086928
|
0.00009
|
NM_024577.4(SH3TC2):c.*9034A>G
|
rs750855366
|
0.00009
|
NM_024577.4(SH3TC2):c.1002-7G>A
|
rs752528409
|
0.00009
|
NM_024577.4(SH3TC2):c.1861C>T (p.Arg621Cys)
|
rs201403149
|
0.00009
|
NM_024577.4(SH3TC2):c.197T>C (p.Val66Ala)
|
rs1485527369
|
0.00009
|
NM_024577.4(SH3TC2):c.2310C>T (p.His770=)
|
rs142462049
|
0.00009
|
NM_024577.4(SH3TC2):c.259G>C (p.Glu87Gln)
|
rs947749200
|
0.00009
|
NM_024577.4(SH3TC2):c.280-5C>T
|
rs201937366
|
0.00009
|
NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe)
|
rs201805333
|
0.00009
|
NM_024577.4(SH3TC2):c.3459C>G (p.Ala1153=)
|
rs1030348232
|
0.00009
|
NM_024577.4(SH3TC2):c.3712C>A (p.Leu1238Met)
|
rs757548779
|
0.00009
|
NM_024577.4(SH3TC2):c.3836G>A (p.Arg1279Gln)
|
rs142774907
|
0.00009
|
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)
|
rs147013935
|
0.00009
|
NM_024577.4(SH3TC2):c.*22208T>C
|
rs756451967
|
0.00008
|
NM_024577.4(SH3TC2):c.*2982T>C
|
rs886060180
|
0.00008
|
NM_024577.4(SH3TC2):c.*4576G>T
|
rs996951340
|
0.00008
|
NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys)
|
rs569974719
|
0.00008
|
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu)
|
rs146364285
|
0.00008
|
NM_024577.4(SH3TC2):c.1725G>T (p.Leu575Phe)
|
rs376266262
|
0.00008
|
NM_024577.4(SH3TC2):c.53-6C>T
|
rs760274954
|
0.00008
|
NM_024577.4(SH3TC2):c.*15062G>A
|
rs886060115
|
0.00007
|
NM_024577.4(SH3TC2):c.*2118G>A
|
rs115163989
|
0.00007
|
NM_024577.4(SH3TC2):c.*4446G>C
|
rs186152591
|
0.00007
|
NM_024577.4(SH3TC2):c.*4947G>A
|
rs1012023269
|
0.00007
|
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)
|
rs78346510
|
0.00007
|
NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His)
|
rs372839905
|
0.00007
|
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met)
|
rs147633804
|
0.00007
|
NM_024577.4(SH3TC2):c.*11357G>A
|
rs147502432
|
0.00006
|
NM_024577.4(SH3TC2):c.*11680C>T
|
rs893213252
|
0.00006
|
NM_024577.4(SH3TC2):c.*1254T>C
|
rs752672326
|
0.00006
|
NM_024577.4(SH3TC2):c.*1310G>A
|
rs886060184
|
0.00006
|
NM_024577.4(SH3TC2):c.*16261C>T
|
rs150690882
|
0.00006
|
NM_024577.4(SH3TC2):c.*21371A>G
|
rs768014940
|
0.00006
|
NM_024577.4(SH3TC2):c.*2729T>C
|
rs555581492
|
0.00006
|
NM_024577.4(SH3TC2):c.*341A>G
|
rs868833114
|
0.00006
|
NM_024577.4(SH3TC2):c.*6557T>C
|
rs199797914
|
0.00006
|
NM_024577.4(SH3TC2):c.*7189C>A
|
rs886060163
|
0.00006
|
NM_024577.4(SH3TC2):c.*7269A>G
|
rs763490898
|
0.00006
|
NM_024577.4(SH3TC2):c.*7452G>A
|
rs761137746
|
0.00006
|
NM_024577.4(SH3TC2):c.*8521C>A
|
rs886060152
|
0.00006
|
NM_024577.4(SH3TC2):c.1401C>T (p.Phe467=)
|
rs150950962
|
0.00006
|
NM_024577.4(SH3TC2):c.1529A>C (p.Tyr510Ser)
|
rs757294130
|
0.00006
|
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser)
|
rs201256776
|
0.00006
|
NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His)
|
rs186864272
|
0.00006
|
NM_024577.4(SH3TC2):c.1921C>T (p.Arg641Cys)
|
rs752002618
|
0.00006
|
NM_024577.4(SH3TC2):c.2215A>G (p.Met739Val)
|
rs146707871
|
0.00006
|
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn)
|
rs375034766
|
0.00006
|
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=)
|
rs574669908
|
0.00006
|
NM_024577.4(SH3TC2):c.3035G>A (p.Arg1012Gln)
|
rs140666774
|
0.00006
|
NM_024577.4(SH3TC2):c.3077G>A (p.Cys1026Tyr)
|
rs367656036
|
0.00006
|
NM_024577.4(SH3TC2):c.3094C>T (p.Arg1032Cys)
|
rs375603885
|
0.00006
|
NM_024577.4(SH3TC2):c.3287A>G (p.Asn1096Ser)
|
rs768331573
|
0.00006
|
NM_024577.4(SH3TC2):c.3676-9C>T
|
rs748694034
|
0.00006
|
NM_024577.4(SH3TC2):c.3835C>T (p.Arg1279Trp)
|
rs536334280
|
0.00006
|
NM_024577.4(SH3TC2):c.3847G>C (p.Gly1283Arg)
|
rs370844006
|
0.00006
|
NM_024577.4(SH3TC2):c.44G>A (p.Arg15Gln)
|
rs758276468
|
0.00006
|
NM_024577.4(SH3TC2):c.542G>T (p.Cys181Phe)
|
rs761372346
|
0.00006
|
NM_024577.4(SH3TC2):c.805+9G>A
|
rs143808719
|
0.00006
|
NM_024577.4(SH3TC2):c.*10014T>A
|
rs56162234
|
0.00005
|
NM_024577.4(SH3TC2):c.*12356A>T
|
rs553936023
|
0.00005
|
NM_024577.4(SH3TC2):c.*13923T>C
|
rs534282709
|
0.00005
|
NM_024577.4(SH3TC2):c.*16562G>T
|
rs369963209
|
0.00005
|
NM_024577.4(SH3TC2):c.*17192C>T
|
rs886060104
|
0.00005
|
NM_024577.4(SH3TC2):c.*3993G>C
|
rs138512171
|
0.00005
|
NM_024577.4(SH3TC2):c.*7254A>T
|
rs1054000517
|
0.00005
|
NM_024577.4(SH3TC2):c.*8748G>A
|
rs190904760
|
0.00005
|
NM_024577.4(SH3TC2):c.1653C>T (p.Phe551=)
|
rs538871220
|
0.00005
|
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp)
|
rs530824367
|
0.00005
|
NM_024577.4(SH3TC2):c.2342G>T (p.Ser781Ile)
|
rs201934740
|
0.00005
|
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val)
|
rs377372640
|
0.00005
|
NM_024577.4(SH3TC2):c.3053+16G>C
|
rs763241330
|
0.00005
|
NM_024577.4(SH3TC2):c.814C>T (p.Arg272Cys)
|
rs146143252
|
0.00005
|
NM_024577.4(SH3TC2):c.935C>T (p.Ser312Leu)
|
rs151205080
|
0.00005
|
NM_024577.4(SH3TC2):c.*10505A>G
|
rs886060137
|
0.00004
|
NM_024577.4(SH3TC2):c.*12146C>G
|
rs886060123
|
0.00004
|
NM_024577.4(SH3TC2):c.*12256G>T
|
rs753234712
|
0.00004
|
NM_024577.4(SH3TC2):c.*17049C>G
|
rs1330263975
|
0.00004
|
NM_024577.4(SH3TC2):c.*17833T>G
|
rs886060103
|
0.00004
|
NM_024577.4(SH3TC2):c.*18055C>A
|
rs912198904
|
0.00004
|
NM_024577.4(SH3TC2):c.*19250T>A
|
rs886060099
|
0.00004
|
NM_024577.4(SH3TC2):c.*22168C>G
|
rs886060092
|
0.00004
|
NM_024577.4(SH3TC2):c.*3419C>T
|
rs753848228
|
0.00004
|
NM_024577.4(SH3TC2):c.*4604G>A
|
rs886060172
|
0.00004
|
NM_024577.4(SH3TC2):c.*5264G>A
|
rs548009546
|
0.00004
|
NM_024577.4(SH3TC2):c.*6104C>T
|
rs556527140
|
0.00004
|
NM_024577.4(SH3TC2):c.*7898A>G
|
rs1196588420
|
0.00004
|
NM_024577.4(SH3TC2):c.*9073G>C
|
rs886060150
|
0.00004
|
NM_024577.4(SH3TC2):c.*921C>T
|
rs1051987911
|
0.00004
|
NM_024577.4(SH3TC2):c.*9466A>C
|
rs980542009
|
0.00004
|
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr)
|
rs771921298
|
0.00004
|
NM_024577.4(SH3TC2):c.1177+9C>T
|
rs375581325
|
0.00004
|
NM_024577.4(SH3TC2):c.1239C>T (p.Ala413=)
|
rs199756080
|
0.00004
|
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys)
|
rs768012192
|
0.00004
|
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=)
|
rs372749343
|
0.00004
|
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys)
|
rs773087313
|
0.00004
|
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=)
|
rs143197881
|
0.00004
|
NM_024577.4(SH3TC2):c.1901G>C (p.Arg634Thr)
|
rs1293958398
|
0.00004
|
NM_024577.4(SH3TC2):c.1922G>A (p.Arg641His)
|
rs199991156
|
0.00004
|
NM_024577.4(SH3TC2):c.2323G>A (p.Gly775Ser)
|
rs559578990
|
0.00004
|
NM_024577.4(SH3TC2):c.2449G>T (p.Asp817Tyr)
|
rs373153093
|
0.00004
|
NM_024577.4(SH3TC2):c.2574C>T (p.Ser858=)
|
rs200772521
|
0.00004
|
NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys)
|
rs142488510
|
0.00004
|
NM_024577.4(SH3TC2):c.2858A>C (p.His953Pro)
|
rs369278337
|
0.00004
|
NM_024577.4(SH3TC2):c.302G>A (p.Ser101Asn)
|
rs199603042
|
0.00004
|
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=)
|
rs768044718
|
0.00004
|
NM_024577.4(SH3TC2):c.3168C>T (p.Leu1056=)
|
rs200795092
|
0.00004
|
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=)
|
rs766282582
|
0.00004
|
NM_024577.4(SH3TC2):c.3180C>T (p.Asp1060=)
|
rs780060168
|
0.00004
|
NM_024577.4(SH3TC2):c.32G>A (p.Arg11Gln)
|
rs558800325
|
0.00004
|
NM_024577.4(SH3TC2):c.3360G>A (p.Lys1120=)
|
rs967171497
|
0.00004
|
NM_024577.4(SH3TC2):c.3479-20C>T
|
rs376784930
|
0.00004
|
NM_024577.4(SH3TC2):c.3610A>G (p.Lys1204Glu)
|
rs571409696
|
0.00004
|
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg)
|
rs143436632
|
0.00004
|
NM_024577.4(SH3TC2):c.3675+5G>C
|
rs1302647300
|
0.00004
|
NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn)
|
rs753142542
|
0.00004
|
NM_024577.4(SH3TC2):c.806-11A>G
|
rs904258121
|
0.00004
|
NM_024577.4(SH3TC2):c.86C>T (p.Ser29Leu)
|
rs559570623
|
0.00004
|
NM_024577.4(SH3TC2):c.882C>T (p.Ser294=)
|
rs200091368
|
0.00004
|
NM_024577.4(SH3TC2):c.*1006C>T
|
rs886060185
|
0.00003
|
NM_024577.4(SH3TC2):c.*10573T>C
|
rs886060136
|
0.00003
|
NM_024577.4(SH3TC2):c.*10984G>T
|
rs868782614
|
0.00003
|
NM_024577.4(SH3TC2):c.*11160C>T
|
rs886060132
|
0.00003
|
NM_024577.4(SH3TC2):c.*11927T>C
|
rs75711075
|
0.00003
|
NM_024577.4(SH3TC2):c.*14315A>C
|
rs762925324
|
0.00003
|
NM_024577.4(SH3TC2):c.*18824T>C
|
rs1259040390
|
0.00003
|
NM_024577.4(SH3TC2):c.*19342A>G
|
rs886060098
|
0.00003
|
NM_024577.4(SH3TC2):c.*1942del
|
rs886060183
|
0.00003
|
NM_024577.4(SH3TC2):c.*210C>A
|
rs886060192
|
0.00003
|
NM_024577.4(SH3TC2):c.*21118G>T
|
rs886060095
|
0.00003
|
NM_024577.4(SH3TC2):c.*21149A>G
|
rs552963495
|
0.00003
|
NM_024577.4(SH3TC2):c.*21281T>G
|
rs528064272
|
0.00003
|
NM_024577.4(SH3TC2):c.*21532C>A
|
rs763141563
|
0.00003
|
NM_024577.4(SH3TC2):c.*21955A>G
|
rs575501943
|
0.00003
|
NM_024577.4(SH3TC2):c.*22199C>T
|
rs778637809
|
0.00003
|
NM_024577.4(SH3TC2):c.*22505G>T
|
rs1034634583
|
0.00003
|
NM_024577.4(SH3TC2):c.*3034A>C
|
rs547028114
|
0.00003
|
NM_024577.4(SH3TC2):c.*3165G>A
|
rs886060179
|
0.00003
|
NM_024577.4(SH3TC2):c.*3411C>T
|
rs886060178
|
0.00003
|
NM_024577.4(SH3TC2):c.*4232G>A
|
rs886060174
|
0.00003
|
NM_024577.4(SH3TC2):c.*5666A>G
|
rs749263197
|
0.00003
|
NM_024577.4(SH3TC2):c.*7877A>G
|
rs374095669
|
0.00003
|
NM_024577.4(SH3TC2):c.*8217A>G
|
rs768467653
|
0.00003
|
NM_024577.4(SH3TC2):c.*8283A>T
|
rs780934660
|
0.00003
|
NM_024577.4(SH3TC2):c.*932T>A
|
rs886060186
|
0.00003
|
NM_024577.4(SH3TC2):c.*9980_*9981insTATT
|
rs1554119372
|
0.00003
|
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=)
|
rs201779392
|
0.00003
|
NM_024577.4(SH3TC2):c.1342G>C (p.Asp448His)
|
rs587781252
|
0.00003
|
NM_024577.4(SH3TC2):c.164C>T (p.Ser55Phe)
|
rs201291203
|
0.00003
|
NM_024577.4(SH3TC2):c.1654G>A (p.Glu552Lys)
|
rs551953142
|
0.00003
|
NM_024577.4(SH3TC2):c.1947C>T (p.His649=)
|
rs576049662
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.2023G>A (p.Val675Ile)
|
rs764633604
|
0.00003
|
NM_024577.4(SH3TC2):c.2056C>T (p.Pro686Ser)
|
rs767415595
|
0.00003
|
NM_024577.4(SH3TC2):c.2107G>A (p.Gly703Arg)
|
rs912282924
|
0.00003
|
NM_024577.4(SH3TC2):c.223C>T (p.Arg75Trp)
|
rs769679412
|
0.00003
|
NM_024577.4(SH3TC2):c.2254G>A (p.Asp752Asn)
|
rs749008572
|
0.00003
|
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp)
|
rs185149793
|
0.00003
|
NM_024577.4(SH3TC2):c.2373T>A (p.Gly791=)
|
rs187337223
|
0.00003
|
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe)
|
rs764616291
|
0.00003
|
NM_024577.4(SH3TC2):c.2551C>T (p.Arg851Trp)
|
rs144655516
|
0.00003
|
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)
|
rs80338931
|
0.00003
|
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=)
|
rs776221160
|
0.00003
|
NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln)
|
rs776426059
|
0.00003
|
NM_024577.4(SH3TC2):c.2873-4T>A
|
rs771093927
|
0.00003
|
NM_024577.4(SH3TC2):c.2989C>T (p.Arg997Trp)
|
rs763331671
|
0.00003
|
NM_024577.4(SH3TC2):c.3300del (p.His1100fs)
|
rs774401267
|
0.00003
|
NM_024577.4(SH3TC2):c.3312A>G (p.Ala1104=)
|
rs369131151
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_024577.4(SH3TC2):c.3363G>A (p.Ala1121=)
|
rs547035706
|
0.00003
|
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)
|
rs200728983
|
0.00003
|
NM_024577.4(SH3TC2):c.529+10G>A
|
rs768567281
|
0.00003
|
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
|
rs202052720
|
0.00003
|
NM_024577.4(SH3TC2):c.908C>A (p.Pro303His)
|
rs778572329
|
0.00003
|
NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu)
|
rs763949764
|
0.00003
|
NM_024577.4(SH3TC2):c.*12010C>A
|
rs1221405889
|
0.00002
|
NM_024577.4(SH3TC2):c.*12126C>T
|
rs886060124
|
0.00002
|
NM_024577.4(SH3TC2):c.*12653C>A
|
rs886060121
|
0.00002
|
NM_024577.4(SH3TC2):c.*16257T>C
|
rs572081330
|
0.00002
|
NM_024577.4(SH3TC2):c.*16855A>G
|
rs886060108
|
0.00002
|
NM_024577.4(SH3TC2):c.*3707C>T
|
rs548127285
|
0.00002
|
NM_024577.4(SH3TC2):c.*4409T>A
|
rs886060173
|
0.00002
|
NM_024577.4(SH3TC2):c.*5305C>A
|
rs886060170
|
0.00002
|
NM_024577.4(SH3TC2):c.*5576C>T
|
rs886060168
|
0.00002
|
NM_024577.4(SH3TC2):c.*5747C>T
|
rs886060166
|
0.00002
|
NM_024577.4(SH3TC2):c.*6682G>C
|
rs557452648
|
0.00002
|
NM_024577.4(SH3TC2):c.*7064A>G
|
rs1027337341
|
0.00002
|
NM_024577.4(SH3TC2):c.*8567G>A
|
rs369239776
|
0.00002
|
NM_024577.4(SH3TC2):c.*9233T>A
|
rs886060148
|
0.00002
|
NM_024577.4(SH3TC2):c.100G>A (p.Ala34Thr)
|
rs1189763508
|
0.00002
|
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala)
|
rs772832716
|
0.00002
|
NM_024577.4(SH3TC2):c.1129C>T (p.Arg377Trp)
|
rs753775570
|
0.00002
|
NM_024577.4(SH3TC2):c.1136-12A>G
|
rs367677521
|
0.00002
|
NM_024577.4(SH3TC2):c.1178-3C>T
|
rs1380474010
|
0.00002
|
NM_024577.4(SH3TC2):c.1178-8C>T
|
rs202042438
|
0.00002
|
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His)
|
rs146997517
|
0.00002
|
NM_024577.4(SH3TC2):c.1284G>A (p.Glu428=)
|
rs367691494
|
0.00002
|
NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu)
|
rs759614174
|
0.00002
|
NM_024577.4(SH3TC2):c.1390G>A (p.Ala464Thr)
|
rs764054256
|
0.00002
|
NM_024577.4(SH3TC2):c.142A>G (p.Ile48Val)
|
rs543440112
|
0.00002
|
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923
|
0.00002
|
NM_024577.4(SH3TC2):c.1764C>T (p.Gly588=)
|
rs776029143
|
0.00002
|
NM_024577.4(SH3TC2):c.1797_1800dup (p.Cys601fs)
|
rs749963147
|
0.00002
|
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys)
|
rs778936762
|
0.00002
|
NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=)
|
rs370025626
|
0.00002
|
NM_024577.4(SH3TC2):c.1843G>A (p.Val615Met)
|
rs577783066
|
0.00002
|
NM_024577.4(SH3TC2):c.1854C>T (p.Tyr618=)
|
rs1483284949
|
0.00002
|
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)
|
rs537049075
|
0.00002
|
NM_024577.4(SH3TC2):c.1968C>T (p.Ala656=)
|
rs114797709
|
0.00002
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
NM_024577.4(SH3TC2):c.2096A>T (p.Gln699Leu)
|
rs747615941
|
0.00002
|
NM_024577.4(SH3TC2):c.2196T>G (p.Val732=)
|
rs1007373698
|
0.00002
|
NM_024577.4(SH3TC2):c.2258G>A (p.Arg753Gln)
|
rs755570739
|
0.00002
|
NM_024577.4(SH3TC2):c.2578C>T (p.Leu860Phe)
|
rs139958177
|
0.00002
|
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr)
|
rs779223727
|
0.00002
|
NM_024577.4(SH3TC2):c.2873-3C>T
|
rs749316605
|
0.00002
|
NM_024577.4(SH3TC2):c.2922C>T (p.Ser974=)
|
rs755319616
|
0.00002
|
NM_024577.4(SH3TC2):c.2950C>A (p.His984Asn)
|
rs747613156
|
0.00002
|
NM_024577.4(SH3TC2):c.2999A>C (p.Glu1000Ala)
|
rs192187328
|
0.00002
|
NM_024577.4(SH3TC2):c.3024G>A (p.Gly1008=)
|
rs771710493
|
0.00002
|
NM_024577.4(SH3TC2):c.3039C>A (p.Asn1013Lys)
|
rs753381949
|
0.00002
|
NM_024577.4(SH3TC2):c.3103A>G (p.Ile1035Val)
|
rs369953562
|
0.00002
|
NM_024577.4(SH3TC2):c.3190G>A (p.Glu1064Lys)
|
rs756108498
|
0.00002
|
NM_024577.4(SH3TC2):c.3205-7C>T
|
rs369262851
|
0.00002
|
NM_024577.4(SH3TC2):c.320C>A (p.Ala107Asp)
|
rs1371951870
|
0.00002
|
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile)
|
rs199514987
|
0.00002
|
NM_024577.4(SH3TC2):c.330C>T (p.Leu110=)
|
rs1305286171
|
0.00002
|
NM_024577.4(SH3TC2):c.3457G>T (p.Ala1153Ser)
|
rs778351829
|
0.00002
|
NM_024577.4(SH3TC2):c.3479-5C>T
|
rs768321650
|
0.00002
|
NM_024577.4(SH3TC2):c.3503C>T (p.Ala1168Val)
|
rs372797350
|
0.00002
|
NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr)
|
rs148831039
|
0.00002
|
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)
|
rs758669363
|
0.00002
|
NM_024577.4(SH3TC2):c.3683A>G (p.His1228Arg)
|
rs1163101801
|
0.00002
|
NM_024577.4(SH3TC2):c.3722C>T (p.Ala1241Val)
|
rs141712019
|
0.00002
|
NM_024577.4(SH3TC2):c.3757A>G (p.Ile1253Val)
|
rs147931490
|
0.00002
|
NM_024577.4(SH3TC2):c.3833C>T (p.Ala1278Val)
|
rs374516818
|
0.00002
|
NM_024577.4(SH3TC2):c.436C>T (p.Leu146Phe)
|
rs755754277
|
0.00002
|
NM_024577.4(SH3TC2):c.442T>G (p.Cys148Gly)
|
rs748071430
|
0.00002
|
NM_024577.4(SH3TC2):c.530-12C>T
|
rs374788786
|
0.00002
|
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=)
|
rs371302639
|
0.00002
|
NM_024577.4(SH3TC2):c.892A>G (p.Ile298Val)
|
rs746615255
|
0.00002
|
NM_024577.4(SH3TC2):c.936G>A (p.Ser312=)
|
rs918659172
|
0.00002
|
NM_024577.4(SH3TC2):c.*10079A>G
|
rs886060142
|
0.00001
|
NM_024577.4(SH3TC2):c.*10672A>C
|
rs1753463315
|
0.00001
|
NM_024577.4(SH3TC2):c.*1079T>C
|
rs1753632252
|
0.00001
|
NM_024577.4(SH3TC2):c.*11054G>C
|
rs886060134
|
0.00001
|
NM_024577.4(SH3TC2):c.*11055T>C
|
rs886060133
|
0.00001
|
NM_024577.4(SH3TC2):c.*11593G>A
|
rs886060129
|
0.00001
|
NM_024577.4(SH3TC2):c.*12469T>A
|
rs886060122
|
0.00001
|
NM_024577.4(SH3TC2):c.*12637A>G
|
rs536941130
|
0.00001
|
NM_024577.4(SH3TC2):c.*13292G>T
|
rs1347035516
|
0.00001
|
NM_024577.4(SH3TC2):c.*14628C>T
|
rs886060118
|
0.00001
|
NM_024577.4(SH3TC2):c.*15339G>A
|
rs886060113
|
0.00001
|
NM_024577.4(SH3TC2):c.*15385A>G
|
rs540944260
|
0.00001
|
NM_024577.4(SH3TC2):c.*15680T>C
|
rs886060112
|
0.00001
|
NM_024577.4(SH3TC2):c.*16720T>G
|
rs1753361070
|
0.00001
|
NM_024577.4(SH3TC2):c.*16905T>G
|
rs886060105
|
0.00001
|
NM_024577.4(SH3TC2):c.*1787G>C
|
rs139566698
|
0.00001
|
NM_024577.4(SH3TC2):c.*17934T>C
|
rs1753339081
|
0.00001
|
NM_024577.4(SH3TC2):c.*18471A>G
|
rs1753330424
|
0.00001
|
NM_024577.4(SH3TC2):c.*2065C>T
|
rs190638676
|
0.00001
|
NM_024577.4(SH3TC2):c.*20787G>A
|
rs76578570
|
0.00001
|
NM_024577.4(SH3TC2):c.*2341A>G
|
rs531168193
|
0.00001
|
NM_024577.4(SH3TC2):c.*2624A>G
|
rs762855152
|
0.00001
|
NM_024577.4(SH3TC2):c.*281A>G
|
rs886060191
|
0.00001
|
NM_024577.4(SH3TC2):c.*2921G>A
|
rs1293808777
|
0.00001
|
NM_024577.4(SH3TC2):c.*4920T>G
|
rs550230926
|
0.00001
|
NM_024577.4(SH3TC2):c.*5820A>G
|
rs1309341884
|
0.00001
|
NM_024577.4(SH3TC2):c.*5933G>A
|
rs886060165
|
0.00001
|
NM_024577.4(SH3TC2):c.*6302T>A
|
rs545169695
|
0.00001
|
NM_024577.4(SH3TC2):c.*651C>A
|
rs1454230507
|
0.00001
|
NM_024577.4(SH3TC2):c.*6836T>C
|
rs757138006
|
0.00001
|
NM_024577.4(SH3TC2):c.*8313G>A
|
rs770951592
|
0.00001
|
NM_024577.4(SH3TC2):c.*9122G>A
|
rs1430233185
|
0.00001
|
NM_024577.4(SH3TC2):c.*9445A>G
|
rs1422098391
|
0.00001
|
NM_024577.4(SH3TC2):c.1002-5T>A
|
rs769711653
|
0.00001
|
NM_024577.4(SH3TC2):c.1002-8C>T
|
rs748766254
|
0.00001
|
NM_024577.4(SH3TC2):c.1006A>G (p.Arg336Gly)
|
rs781032352
|
0.00001
|
NM_024577.4(SH3TC2):c.1029T>C (p.Asp343=)
|
rs779061354
|
0.00001
|
NM_024577.4(SH3TC2):c.1130G>A (p.Arg377Gln)
|
rs1450931349
|
0.00001
|
NM_024577.4(SH3TC2):c.1135+15T>G
|
rs765853048
|
0.00001
|
NM_024577.4(SH3TC2):c.1140G>C (p.Gly380=)
|
rs768932852
|
0.00001
|
NM_024577.4(SH3TC2):c.1177+14A>G
|
rs1217015867
|
0.00001
|
NM_024577.4(SH3TC2):c.1196T>A (p.Phe399Tyr)
|
rs763564639
|
0.00001
|
NM_024577.4(SH3TC2):c.11G>T (p.Cys4Phe)
|
rs562967549
|
0.00001
|
NM_024577.4(SH3TC2):c.1217G>T (p.Arg406Ile)
|
rs761907624
|
0.00001
|
NM_024577.4(SH3TC2):c.122A>G (p.Lys41Arg)
|
rs759096245
|
0.00001
|
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=)
|
rs748870159
|
0.00001
|
NM_024577.4(SH3TC2):c.1260C>A (p.Ser420Arg)
|
rs766814812
|
0.00001
|
NM_024577.4(SH3TC2):c.1265C>T (p.Ser422Phe)
|
rs754865697
|
0.00001
|
NM_024577.4(SH3TC2):c.1287G>A (p.Glu429=)
|
rs1237348677
|
0.00001
|
NM_024577.4(SH3TC2):c.1305C>T (p.Thr435=)
|
rs774971119
|
0.00001
|
NM_024577.4(SH3TC2):c.1311C>T (p.Asp437=)
|
rs749587305
|
0.00001
|
NM_024577.4(SH3TC2):c.1319G>A (p.Arg440His)
|
rs755748579
|
0.00001
|
NM_024577.4(SH3TC2):c.1320C>A (p.Arg440=)
|
rs1361033420
|
0.00001
|
NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro)
|
rs1172985848
|
0.00001
|
NM_024577.4(SH3TC2):c.1325C>T (p.Pro442Leu)
|
rs370613184
|
0.00001
|
NM_024577.4(SH3TC2):c.1335T>G (p.Asp445Glu)
|
rs1234203055
|
0.00001
|
NM_024577.4(SH3TC2):c.1355T>C (p.Leu452Pro)
|
rs1235312791
|
0.00001
|
NM_024577.4(SH3TC2):c.1383G>T (p.Glu461Asp)
|
rs1326032447
|
0.00001
|
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)
|
rs749850181
|
0.00001
|
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=)
|
rs887057321
|
0.00001
|
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys)
|
rs757167683
|
0.00001
|
NM_024577.4(SH3TC2):c.1448T>G (p.Phe483Cys)
|
rs751644174
|
0.00001
|
NM_024577.4(SH3TC2):c.1460A>G (p.Tyr487Cys)
|
rs763417948
|
0.00001
|
NM_024577.4(SH3TC2):c.1468T>G (p.Ser490Ala)
|
rs372841815
|
0.00001
|
NM_024577.4(SH3TC2):c.151+11G>A
|
rs773004267
|
0.00001
|
NM_024577.4(SH3TC2):c.152-14C>G
|
rs1019701436
|
0.00001
|
NM_024577.4(SH3TC2):c.152-8T>A
|
rs1350673664
|
0.00001
|
NM_024577.4(SH3TC2):c.1584C>T (p.Ala528=)
|
rs762967613
|
0.00001
|
NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys)
|
rs750529207
|
0.00001
|
NM_024577.4(SH3TC2):c.1606C>T (p.Arg536Trp)
|
rs777043032
|
0.00001
|
NM_024577.4(SH3TC2):c.1632C>G (p.Leu544=)
|
rs771050155
|
0.00001
|
NM_024577.4(SH3TC2):c.1639G>A (p.Ala547Thr)
|
rs1324539774
|
0.00001
|
NM_024577.4(SH3TC2):c.1641C>T (p.Ala547=)
|
rs1265312422
|
0.00001
|
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu)
|
rs1554121720
|
0.00001
|
NM_024577.4(SH3TC2):c.1763G>T (p.Gly588Val)
|
rs760899669
|
0.00001
|
NM_024577.4(SH3TC2):c.179G>A (p.Ser60Asn)
|
rs1436597179
|
0.00001
|
NM_024577.4(SH3TC2):c.182G>A (p.Arg61His)
|
rs376389928
|
0.00001
|
NM_024577.4(SH3TC2):c.1832A>G (p.His611Arg)
|
rs1252838387
|
0.00001
|
NM_024577.4(SH3TC2):c.183C>T (p.Arg61=)
|
rs1754494929
|
0.00001
|
NM_024577.4(SH3TC2):c.1840G>A (p.Asp614Asn)
|
rs201789838
|
0.00001
|
NM_024577.4(SH3TC2):c.1877T>C (p.Val626Ala)
|
rs779061678
|
0.00001
|
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu)
|
rs749260578
|
0.00001
|
NM_024577.4(SH3TC2):c.1915G>A (p.Ala639Thr)
|
rs781671812
|
0.00001
|
NM_024577.4(SH3TC2):c.1953G>A (p.Glu651=)
|
rs1172525443
|
0.00001
|
NM_024577.4(SH3TC2):c.1978C>T (p.Gln660Ter)
|
rs1554121665
|
0.00001
|
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr)
|
rs201985394
|
0.00001
|
NM_024577.4(SH3TC2):c.2039A>G (p.Tyr680Cys)
|
rs763952745
|
0.00001
|
NM_024577.4(SH3TC2):c.2041G>T (p.Asp681Tyr)
|
rs1329516289
|
0.00001
|
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu)
|
rs770170997
|
0.00001
|
NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)
|
rs864622663
|
0.00001
|
NM_024577.4(SH3TC2):c.2128C>T (p.Gln710Ter)
|
rs753287764
|
0.00001
|
NM_024577.4(SH3TC2):c.2130G>A (p.Gln710=)
|
rs763652479
|
0.00001
|
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu)
|
rs1303051798
|
0.00001
|
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys)
|
rs779075488
|
0.00001
|
NM_024577.4(SH3TC2):c.2247A>G (p.Glu749=)
|
rs375251955
|
0.00001
|
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln)
|
rs749772988
|
0.00001
|
NM_024577.4(SH3TC2):c.2256C>G (p.Asp752Glu)
|
rs897500539
|
0.00001
|
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys)
|
rs764436192
|
0.00001
|
NM_024577.4(SH3TC2):c.2309A>G (p.His770Arg)
|
rs926165676
|
0.00001
|
NM_024577.4(SH3TC2):c.230G>A (p.Arg77Gln)
|
rs756666549
|
0.00001
|
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser)
|
rs1416387782
|
0.00001
|
NM_024577.4(SH3TC2):c.2352G>T (p.Leu784Phe)
|
rs754938951
|
0.00001
|
NM_024577.4(SH3TC2):c.2407G>A (p.Ala803Thr)
|
rs377434575
|
0.00001
|
NM_024577.4(SH3TC2):c.2469A>G (p.Leu823=)
|
rs754970703
|
0.00001
|
NM_024577.4(SH3TC2):c.2470T>C (p.Cys824Arg)
|
rs1554121601
|
0.00001
|
NM_024577.4(SH3TC2):c.2506G>A (p.Gly836Arg)
|
rs768389060
|
0.00001
|
NM_024577.4(SH3TC2):c.2516A>G (p.Tyr839Cys)
|
rs202139757
|
0.00001
|
NM_024577.4(SH3TC2):c.2520C>T (p.Asn840=)
|
rs371588176
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>A (p.Gly843Glu)
|
rs1463859150
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)
|
rs1463859150
|
0.00001
|
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=)
|
rs1406112399
|
0.00001
|
NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter)
|
rs758871406
|
0.00001
|
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp)
|
rs147490172
|
0.00001
|
NM_024577.4(SH3TC2):c.2607G>A (p.Val869=)
|
rs771752979
|
0.00001
|
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930
|
0.00001
|
NM_024577.4(SH3TC2):c.264G>A (p.Val88=)
|
rs1337938229
|
0.00001
|
NM_024577.4(SH3TC2):c.2674C>T (p.Gln892Ter)
|
rs757797985
|
0.00001
|
NM_024577.4(SH3TC2):c.2749A>G (p.Met917Val)
|
rs1232735360
|
0.00001
|
NM_024577.4(SH3TC2):c.2775G>A (p.Trp925Ter)
|
rs757701609
|
0.00001
|
NM_024577.4(SH3TC2):c.279+1G>A
|
rs1198337036
|
0.00001
|
NM_024577.4(SH3TC2):c.279+4A>G
|
rs371909418
|
0.00001
|
NM_024577.4(SH3TC2):c.280-4G>A
|
rs747321591
|
0.00001
|
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile)
|
rs1380115510
|
0.00001
|
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+13C>T
|
rs1424568850
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+19G>T
|
rs569935040
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+20C>T
|
rs372528082
|
0.00001
|
NM_024577.4(SH3TC2):c.2873-16C>T
|
rs1387099711
|
0.00001
|
NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe)
|
rs1220087441
|
0.00001
|
NM_024577.4(SH3TC2):c.2907C>T (p.Phe969=)
|
rs1238822178
|
0.00001
|
NM_024577.4(SH3TC2):c.2940C>T (p.Cys980=)
|
rs140104134
|
0.00001
|
NM_024577.4(SH3TC2):c.2951A>G (p.His984Arg)
|
rs978452363
|
0.00001
|
NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)
|
rs541197556
|
0.00001
|
NM_024577.4(SH3TC2):c.3048C>T (p.Thr1016=)
|
rs375266719
|
0.00001
|
NM_024577.4(SH3TC2):c.3097A>G (p.Ile1033Val)
|
rs794727104
|
0.00001
|
NM_024577.4(SH3TC2):c.3116A>C (p.Glu1039Ala)
|
rs777209545
|
0.00001
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
NM_024577.4(SH3TC2):c.3149C>T (p.Ala1050Val)
|
rs570067509
|
0.00001
|
NM_024577.4(SH3TC2):c.3157C>T (p.Leu1053Phe)
|
rs772753479
|
0.00001
|
NM_024577.4(SH3TC2):c.3160C>T (p.His1054Tyr)
|
rs769133498
|
0.00001
|
NM_024577.4(SH3TC2):c.3202C>T (p.Gln1068Ter)
|
rs774698284
|
0.00001
|
NM_024577.4(SH3TC2):c.3204+17G>A
|
rs377068951
|
0.00001
|
NM_024577.4(SH3TC2):c.3204+6C>T
|
rs763394102
|
0.00001
|
NM_024577.4(SH3TC2):c.3211A>G (p.Ile1071Val)
|
rs1753764548
|
0.00001
|
NM_024577.4(SH3TC2):c.3254A>G (p.Lys1085Arg)
|
rs750149369
|
0.00001
|
NM_024577.4(SH3TC2):c.3283T>C (p.Phe1095Leu)
|
rs1248817393
|
0.00001
|
NM_024577.4(SH3TC2):c.3286A>G (p.Asn1096Asp)
|
rs1228973233
|
0.00001
|
NM_024577.4(SH3TC2):c.3295C>T (p.Arg1099Cys)
|
rs769907612
|
0.00001
|
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)
|
rs748413646
|
0.00001
|
NM_024577.4(SH3TC2):c.3308A>G (p.His1103Arg)
|
rs780363659
|
0.00001
|
NM_024577.4(SH3TC2):c.3313G>A (p.Val1105Met)
|
rs750746661
|
0.00001
|
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val)
|
rs200801053
|
0.00001
|
NM_024577.4(SH3TC2):c.3340C>G (p.Pro1114Ala)
|
rs757935041
|
0.00001
|
NM_024577.4(SH3TC2):c.3374A>G (p.Glu1125Gly)
|
rs1169028062
|
0.00001
|
NM_024577.4(SH3TC2):c.3409A>G (p.Ile1137Val)
|
rs913598475
|
0.00001
|
NM_024577.4(SH3TC2):c.3417C>T (p.Leu1139=)
|
rs367649953
|
0.00001
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=)
|
rs762263591
|
0.00001
|
NM_024577.4(SH3TC2):c.3526T>G (p.Tyr1176Asp)
|
rs777028943
|
0.00001
|
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)
|
rs747405272
|
0.00001
|
NM_024577.4(SH3TC2):c.3538C>A (p.His1180Asn)
|
rs201876002
|
0.00001
|
NM_024577.4(SH3TC2):c.3546T>C (p.Tyr1182=)
|
rs757190448
|
0.00001
|
NM_024577.4(SH3TC2):c.3549G>A (p.Glu1183=)
|
rs749235873
|
0.00001
|
NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter)
|
rs761972717
|
0.00001
|
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)
|
rs1248359114
|
0.00001
|
NM_024577.4(SH3TC2):c.3676-15A>G
|
rs770644656
|
0.00001
|
NM_024577.4(SH3TC2):c.3681C>T (p.Ala1227=)
|
rs760036395
|
0.00001
|
NM_024577.4(SH3TC2):c.3682C>T (p.His1228Tyr)
|
rs1371380897
|
0.00001
|
NM_024577.4(SH3TC2):c.3710C>T (p.Ala1237Val)
|
rs778953792
|
0.00001
|
NM_024577.4(SH3TC2):c.3723G>A (p.Ala1241=)
|
rs777895612
|
0.00001
|
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)
|
rs1754425732
|
0.00001
|
NM_024577.4(SH3TC2):c.3760A>G (p.Arg1254Gly)
|
rs765921861
|
0.00001
|
NM_024577.4(SH3TC2):c.3761G>A (p.Arg1254Lys)
|
rs1229941957
|
0.00001
|
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr)
|
rs781625125
|
0.00001
|
NM_024577.4(SH3TC2):c.386-2A>C
|
rs145670786
|
0.00001
|
NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=)
|
rs776623792
|
0.00001
|
NM_024577.4(SH3TC2):c.429G>A (p.Lys143=)
|
rs748964376
|
0.00001
|
NM_024577.4(SH3TC2):c.443G>A (p.Cys148Tyr)
|
rs1483097983
|
0.00001
|
NM_024577.4(SH3TC2):c.450G>C (p.Leu150Phe)
|
rs542260900
|
0.00001
|
NM_024577.4(SH3TC2):c.509T>G (p.Leu170Arg)
|
rs1754392249
|
0.00001
|
NM_024577.4(SH3TC2):c.529+1G>A
|
rs769410348
|
0.00001
|
NM_024577.4(SH3TC2):c.53-17T>C
|
rs1468767577
|
0.00001
|
NM_024577.4(SH3TC2):c.53-3C>T
|
rs771541595
|
0.00001
|
NM_024577.4(SH3TC2):c.530-2A>T
|
rs80338920
|
0.00001
|
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met)
|
rs745613768
|
0.00001
|
NM_024577.4(SH3TC2):c.56A>G (p.Lys19Arg)
|
rs778863028
|
0.00001
|
NM_024577.4(SH3TC2):c.574G>A (p.Glu192Lys)
|
rs755054839
|
0.00001
|
NM_024577.4(SH3TC2):c.578A>G (p.Lys193Arg)
|
rs569256459
|
0.00001
|
NM_024577.4(SH3TC2):c.579G>A (p.Lys193=)
|
rs752087220
|
0.00001
|
NM_024577.4(SH3TC2):c.596C>T (p.Thr199Ile)
|
rs368872316
|
0.00001
|
NM_024577.4(SH3TC2):c.629T>C (p.Met210Thr)
|
rs1472681520
|
0.00001
|
NM_024577.4(SH3TC2):c.635A>G (p.Glu212Gly)
|
rs774120657
|
0.00001
|
NM_024577.4(SH3TC2):c.646G>A (p.Glu216Lys)
|
rs867509336
|
0.00001
|
NM_024577.4(SH3TC2):c.657C>T (p.Gly219=)
|
rs781321213
|
0.00001
|
NM_024577.4(SH3TC2):c.658G>A (p.Val220Met)
|
rs1428903431
|
0.00001
|
NM_024577.4(SH3TC2):c.680G>A (p.Arg227Gln)
|
rs1257812868
|
0.00001
|
NM_024577.4(SH3TC2):c.702C>T (p.Ala234=)
|
rs1242725383
|
0.00001
|
NM_024577.4(SH3TC2):c.708G>A (p.Glu236=)
|
rs774923539
|
0.00001
|
NM_024577.4(SH3TC2):c.713T>G (p.Leu238Arg)
|
rs1210345750
|
0.00001
|
NM_024577.4(SH3TC2):c.730C>T (p.Gln244Ter)
|
rs1463786931
|
0.00001
|
NM_024577.4(SH3TC2):c.732-16A>G
|
rs201017707
|
0.00001
|
NM_024577.4(SH3TC2):c.739C>G (p.Leu247Val)
|
rs772820273
|
0.00001
|
NM_024577.4(SH3TC2):c.75T>A (p.Asp25Glu)
|
rs755164059
|
0.00001
|
NM_024577.4(SH3TC2):c.789A>G (p.Thr263=)
|
rs780777249
|
0.00001
|
NM_024577.4(SH3TC2):c.798T>G (p.Tyr266Ter)
|
rs377509077
|
0.00001
|
NM_024577.4(SH3TC2):c.806-2A>G
|
rs1041389207
|
0.00001
|
NM_024577.4(SH3TC2):c.815G>A (p.Arg272His)
|
rs746737375
|
0.00001
|
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu)
|
rs1399431033
|
0.00001
|
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)
|
rs757969875
|
0.00001
|
NM_024577.4(SH3TC2):c.855T>C (p.Asp285=)
|
rs773193703
|
0.00001
|
NM_024577.4(SH3TC2):c.880A>T (p.Ser294Cys)
|
rs748663288
|
0.00001
|
NM_024577.4(SH3TC2):c.89G>A (p.Ser30Asn)
|
rs765890403
|
0.00001
|
NM_024577.4(SH3TC2):c.904A>G (p.Ile302Val)
|
rs745345448
|
0.00001
|
NM_024577.4(SH3TC2):c.924C>A (p.Phe308Leu)
|
rs753884201
|
0.00001
|
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=)
|
rs144520038
|
0.00001
|
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val)
|
rs753423455
|
0.00001
|
NC_000005.10:g.(?_149040594)_(149040687_?)del
|
|
|
NC_000005.10:g.(?_149047842)_(149048009_?)del
|
|
|
NC_000005.9:g.(?_148360713)_(148443737_?)del
|
|
|
NC_000005.9:g.(?_148384274)_(148442585_?)dup
|
|
|
NC_000005.9:g.(?_148420147)_(148420260_?)del
|
|
|
NC_000005.9:g.(?_148426859)_(148427552_?)del
|
|
|
NM_024577.4(SH3TC2):c.*10006A>T
|
rs201998002
|
|
NM_024577.4(SH3TC2):c.*10010A>T
|
rs886060145
|
|
NM_024577.4(SH3TC2):c.*10018A>T
|
rs866934630
|
|
NM_024577.4(SH3TC2):c.*10022A>T
|
rs56245745
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[11]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[12]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[13]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[14]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[16]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10060C>A
|
rs886060143
|
|
NM_024577.4(SH3TC2):c.*10068C>A
|
rs1042787317
|
|
NM_024577.4(SH3TC2):c.*10083A>G
|
rs886060141
|
|
NM_024577.4(SH3TC2):c.*10103A>T
|
rs754724940
|
|
NM_024577.4(SH3TC2):c.*10111_*10114del
|
rs777886659
|
|
NM_024577.4(SH3TC2):c.*10230A>C
|
rs1246060970
|
|
NM_024577.4(SH3TC2):c.*10395A>G
|
rs1753468263
|
|
NM_024577.4(SH3TC2):c.*10560T>C
|
rs1753464929
|
|
NM_024577.4(SH3TC2):c.*10614G>A
|
rs114217114
|
|
NM_024577.4(SH3TC2):c.*10756G>T
|
rs886060135
|
|
NM_024577.4(SH3TC2):c.*10765A>G
|
rs1753461440
|
|
NM_024577.4(SH3TC2):c.*10802A>T
|
rs547788921
|
|
NM_024577.4(SH3TC2):c.*11299C>G
|
rs547464453
|
|
NM_024577.4(SH3TC2):c.*11506C>T
|
rs886060131
|
|
NM_024577.4(SH3TC2):c.*11803A>G
|
rs1051316908
|
|
NM_024577.4(SH3TC2):c.*11934A>G
|
rs1753442184
|
|
NM_024577.4(SH3TC2):c.*12009T>C
|
rs1753441242
|
|
NM_024577.4(SH3TC2):c.*12108_*12110del
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*12109_*12110dup
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*12110dup
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*12111_*12112insAA
|
rs886060126
|
|
NM_024577.4(SH3TC2):c.*12114dup
|
rs886060125
|
|
NM_024577.4(SH3TC2):c.*12442A>G
|
rs56848629
|
|
NM_024577.4(SH3TC2):c.*12752T>A
|
rs886060120
|
|
NM_024577.4(SH3TC2):c.*13037G>A
|
rs769382913
|
|
NM_024577.4(SH3TC2):c.*13293T>C
|
rs886060119
|
|
NM_024577.4(SH3TC2):c.*14182A>G
|
rs374261707
|
|
NM_024577.4(SH3TC2):c.*14188C>T
|
rs532583447
|
|
NM_024577.4(SH3TC2):c.*1421A>C
|
rs1753627085
|
|
NM_024577.4(SH3TC2):c.*14397A>C
|
rs1753401888
|
|
NM_024577.4(SH3TC2):c.*14450A>C
|
rs758906397
|
|
NM_024577.4(SH3TC2):c.*14781C>A
|
rs886060117
|
|
NM_024577.4(SH3TC2):c.*147A>T
|
rs147796833
|
|
NM_024577.4(SH3TC2):c.*15049A>T
|
rs575869408
|
|
NM_024577.4(SH3TC2):c.*15311del
|
rs886060114
|
|
NM_024577.4(SH3TC2):c.*15483T>C
|
rs971207143
|
|
NM_024577.4(SH3TC2):c.*15823T>A
|
rs4562031
|
|
NM_024577.4(SH3TC2):c.*15877G>T
|
rs868551923
|
|
NM_024577.4(SH3TC2):c.*16015G>T
|
rs994438752
|
|
NM_024577.4(SH3TC2):c.*16174A>G
|
rs1753370916
|
|
NM_024577.4(SH3TC2):c.*16293C>G
|
rs1753368592
|
|
NM_024577.4(SH3TC2):c.*16402G>T
|
rs1753366817
|
|
NM_024577.4(SH3TC2):c.*16507C>T
|
rs886060111
|
|
NM_024577.4(SH3TC2):c.*16509A>G
|
rs886060110
|
|
NM_024577.4(SH3TC2):c.*16557T>A
|
rs1389655483
|
|
NM_024577.4(SH3TC2):c.*16711C>G
|
rs886060109
|
|
NM_024577.4(SH3TC2):c.*16856CA[21]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[22]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[24]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[26]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16902G>A
|
rs886060107
|
|
NM_024577.4(SH3TC2):c.*16953T>C
|
rs948858895
|
|
NM_024577.4(SH3TC2):c.*17036C>G
|
rs75086059
|
|
NM_024577.4(SH3TC2):c.*17036C>T
|
rs75086059
|
|
NM_024577.4(SH3TC2):c.*17301T>A
|
rs1012900530
|
|
NM_024577.4(SH3TC2):c.*17482A>G
|
rs1753346855
|
|
NM_024577.4(SH3TC2):c.*17837T>G
|
rs1753341216
|
|
NM_024577.4(SH3TC2):c.*18234G>A
|
rs886060102
|
|
NM_024577.4(SH3TC2):c.*18483dup
|
rs536826583
|
|
NM_024577.4(SH3TC2):c.*18635C>T
|
rs886060101
|
|
NM_024577.4(SH3TC2):c.*19111G>T
|
rs1753319859
|
|
NM_024577.4(SH3TC2):c.*19137C>G
|
rs773138258
|
|
NM_024577.4(SH3TC2):c.*19182A>C
|
rs886060100
|
|
NM_024577.4(SH3TC2):c.*19406A>G
|
rs72835351
|
|
NM_024577.4(SH3TC2):c.*19406A>T
|
rs72835351
|
|
NM_024577.4(SH3TC2):c.*1946_*1947del
|
rs397883732
|
|
NM_024577.4(SH3TC2):c.*1979C>T
|
rs886060181
|
|
NM_024577.4(SH3TC2):c.*20919_*20920del
|
rs886060096
|
|
NM_024577.4(SH3TC2):c.*21087A>G
|
rs1753287119
|
|
NM_024577.4(SH3TC2):c.*21119G>T
|
rs1326174533
|
|
NM_024577.4(SH3TC2):c.*2141C>T
|
rs535223944
|
|
NM_024577.4(SH3TC2):c.*21474AAAC[2]
|
rs146796490
|
|
NM_024577.4(SH3TC2):c.*22035G>A
|
rs544954149
|
|
NM_024577.4(SH3TC2):c.*22291T>C
|
rs886060091
|
|
NM_024577.4(SH3TC2):c.*22552_*22553dup
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*22553del
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*22553dup
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*2923A>G
|
rs1033163196
|
|
NM_024577.4(SH3TC2):c.*3035C>A
|
rs183531576
|
|
NM_024577.4(SH3TC2):c.*3246A>C
|
rs73795732
|
|
NM_024577.4(SH3TC2):c.*3313G>A
|
rs1753595247
|
|
NM_024577.4(SH3TC2):c.*3438T>C
|
rs367587126
|
|
NM_024577.4(SH3TC2):c.*3464C>T
|
rs753332922
|
|
NM_024577.4(SH3TC2):c.*3497G>A
|
rs1753591981
|
|
NM_024577.4(SH3TC2):c.*3589G>T
|
rs1044470297
|
|
NM_024577.4(SH3TC2):c.*3946C>A
|
rs1753583783
|
|
NM_024577.4(SH3TC2):c.*4183T>C
|
rs886060176
|
|
NM_024577.4(SH3TC2):c.*4209A>G
|
rs886060175
|
|
NM_024577.4(SH3TC2):c.*4240C>A
|
rs765837919
|
|
NM_024577.4(SH3TC2):c.*4975T>C
|
rs1753565926
|
|
NM_024577.4(SH3TC2):c.*5020C>T
|
rs371723580
|
|
NM_024577.4(SH3TC2):c.*5279del
|
rs573168274
|
|
NM_024577.4(SH3TC2):c.*5350G>A
|
rs1753560296
|
|
NM_024577.4(SH3TC2):c.*5419G>A
|
rs886060169
|
|
NM_024577.4(SH3TC2):c.*5634C>A
|
rs565468168
|
|
NM_024577.4(SH3TC2):c.*574A>C
|
rs74964033
|
|
NM_024577.4(SH3TC2):c.*623T>C
|
rs886060190
|
|
NM_024577.4(SH3TC2):c.*6382T>C
|
rs528052888
|
|
NM_024577.4(SH3TC2):c.*6392C>A
|
rs114817736
|
|
NM_024577.4(SH3TC2):c.*6392C>T
|
rs114817736
|
|
NM_024577.4(SH3TC2):c.*6510G>A
|
rs116056843
|
|
NM_024577.4(SH3TC2):c.*6563_*6564del
|
rs368030230
|
|
NM_024577.4(SH3TC2):c.*6627C>T
|
rs536731603
|
|
NM_024577.4(SH3TC2):c.*6870ACA[1]
|
rs567997802
|
|
NM_024577.4(SH3TC2):c.*7016ATATT[1]
|
rs886060164
|
|
NM_024577.4(SH3TC2):c.*7152G>A
|
rs1753532056
|
|
NM_024577.4(SH3TC2):c.*7189C>G
|
rs886060163
|
|
NM_024577.4(SH3TC2):c.*7197G>C
|
rs886060162
|
|
NM_024577.4(SH3TC2):c.*7256A>C
|
rs886060161
|
|
NM_024577.4(SH3TC2):c.*7285G>C
|
rs886060160
|
|
NM_024577.4(SH3TC2):c.*7291G>A
|
rs748202204
|
|
NM_024577.4(SH3TC2):c.*7394A>G
|
rs886060158
|
|
NM_024577.4(SH3TC2):c.*7451C>T
|
rs114534145
|
|
NM_024577.4(SH3TC2):c.*7570G>A
|
rs886060157
|
|
NM_024577.4(SH3TC2):c.*8038A>G
|
rs988158680
|
|
NM_024577.4(SH3TC2):c.*8077A>G
|
rs886060156
|
|
NM_024577.4(SH3TC2):c.*8216T>C
|
rs886060155
|
|
NM_024577.4(SH3TC2):c.*8261G>A
|
rs1753511260
|
|
NM_024577.4(SH3TC2):c.*8349T>C
|
rs565407418
|
|
NM_024577.4(SH3TC2):c.*8364C>T
|
rs886060154
|
|
NM_024577.4(SH3TC2):c.*839del
|
rs886060189
|
|
NM_024577.4(SH3TC2):c.*8423T>C
|
rs10036103
|
|
NM_024577.4(SH3TC2):c.*8424CT[7]
|
rs146811206
|
|
NM_024577.4(SH3TC2):c.*8424CT[9]
|
rs146811206
|
|
NM_024577.4(SH3TC2):c.*858_*861del
|
rs5872107
|
|
NM_024577.4(SH3TC2):c.*858_*862del
|
rs1561755591
|
|
NM_024577.4(SH3TC2):c.*861dup
|
rs5872107
|
|
NM_024577.4(SH3TC2):c.*8622del
|
rs562125931
|
|
NM_024577.4(SH3TC2):c.*862del
|
rs886060188
|
|
NM_024577.4(SH3TC2):c.*862dup
|
rs886060187
|
|
NM_024577.4(SH3TC2):c.*8692T>C
|
rs559844045
|
|
NM_024577.4(SH3TC2):c.*86C>T
|
rs886060194
|
|
NM_024577.4(SH3TC2):c.*9121del
|
rs886060149
|
|
NM_024577.4(SH3TC2):c.*9193A>G
|
rs543374482
|
|
NM_024577.4(SH3TC2):c.*9340G>C
|
rs886060147
|
|
NM_024577.4(SH3TC2):c.*9357T>C
|
rs147996031
|
|
NM_024577.4(SH3TC2):c.*9357T>G
|
rs147996031
|
|
NM_024577.4(SH3TC2):c.*9872T>C
|
rs545698794
|
|
NM_024577.4(SH3TC2):c.*9974ATCC[11]
|
rs201323132
|
|
NM_024577.4(SH3TC2):c.*9974ATCC[14]
|
rs201323132
|
|
NM_024577.4(SH3TC2):c.*99G>A
|
rs886060193
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
NM_024577.4(SH3TC2):c.1001+5G>T
|
rs1754315788
|
|
NM_024577.4(SH3TC2):c.1001+93del
|
rs534457131
|
|
NM_024577.4(SH3TC2):c.1002-13del
|
|
|
NM_024577.4(SH3TC2):c.1002-8del
|
rs1580903964
|
|
NM_024577.4(SH3TC2):c.1005del (p.Ser335fs)
|
rs2127398588
|
|
NM_024577.4(SH3TC2):c.1008G>A (p.Arg336=)
|
rs1754196149
|
|
NM_024577.4(SH3TC2):c.101C>A (p.Ala34Asp)
|
rs1444603403
|
|
NM_024577.4(SH3TC2):c.1031A>G (p.Glu344Gly)
|
rs753849885
|
|
NM_024577.4(SH3TC2):c.1040G>C (p.Cys347Ser)
|
rs1271507097
|
|
NM_024577.4(SH3TC2):c.1053C>A (p.Ala351=)
|
|
|
NM_024577.4(SH3TC2):c.1053C>T (p.Ala351=)
|
rs754936070
|
|
NM_024577.4(SH3TC2):c.1057G>C (p.Gly353Arg)
|
rs1299916015
|
|
NM_024577.4(SH3TC2):c.1061G>C (p.Ser354Thr)
|
|
|
NM_024577.4(SH3TC2):c.106T>C (p.Ser36Pro)
|
rs1580917049
|
|
NM_024577.4(SH3TC2):c.1077G>A (p.Glu359=)
|
|
|
NM_024577.4(SH3TC2):c.1090del (p.Leu364fs)
|
rs2127398558
|
|
NM_024577.4(SH3TC2):c.1093C>T (p.His365Tyr)
|
|
|
NM_024577.4(SH3TC2):c.1102G>A (p.Ala368Thr)
|
rs2127398548
|
|
NM_024577.4(SH3TC2):c.1106G>T (p.Arg369Leu)
|
rs551803988
|
|
NM_024577.4(SH3TC2):c.1131G>T (p.Arg377=)
|
|
|
NM_024577.4(SH3TC2):c.1135+3G>A
|
|
|
NM_024577.4(SH3TC2):c.1135+3G>C
|
rs1064793267
|
|
NM_024577.4(SH3TC2):c.1136-10C>G
|
|
|
NM_024577.4(SH3TC2):c.1136-5C>T
|
|
|
NM_024577.4(SH3TC2):c.1136-6A>G
|
|
|
NM_024577.4(SH3TC2):c.1138G>A (p.Gly380Arg)
|
rs761184149
|
|
NM_024577.4(SH3TC2):c.1139G>T (p.Gly380Val)
|
rs2127397798
|
|
NM_024577.4(SH3TC2):c.1152C>G (p.Ile384Met)
|
|
|
NM_024577.4(SH3TC2):c.1160C>T (p.Pro387Leu)
|
|
|
NM_024577.4(SH3TC2):c.1172T>C (p.Leu391Pro)
|
rs141544031
|
|
NM_024577.4(SH3TC2):c.1177+16G>T
|
|
|
NM_024577.4(SH3TC2):c.1177+18T>A
|
rs1454045139
|
|
NM_024577.4(SH3TC2):c.1177+5G>A
|
rs1561765688
|
|
NM_024577.4(SH3TC2):c.1178-11T>C
|
|
|
NM_024577.4(SH3TC2):c.1178-14G>A
|
|
|
NM_024577.4(SH3TC2):c.1178-14G>T
|
|
|
NM_024577.4(SH3TC2):c.1178-15T>C
|
|
|
NM_024577.4(SH3TC2):c.1178-18C>T
|
|
|
NM_024577.4(SH3TC2):c.1178-1G>A
|
rs80338922
|
|
NM_024577.4(SH3TC2):c.1178-4A>G
|
rs2127397727
|
|
NM_024577.4(SH3TC2):c.1178-8C>A
|
rs202042438
|
|
NM_024577.4(SH3TC2):c.1184A>C (p.Gln395Pro)
|
|
|
NM_024577.4(SH3TC2):c.1190A>G (p.Glu397Gly)
|
|
|
NM_024577.4(SH3TC2):c.1193_1194delinsCC (p.Gly398Ala)
|
rs2127397715
|
|
NM_024577.4(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu)
|
rs1554121791
|
|
NM_024577.4(SH3TC2):c.1196T>G (p.Phe399Cys)
|
rs763564639
|
|
NM_024577.4(SH3TC2):c.1204G>A (p.Val402Ile)
|
|
|
NM_024577.4(SH3TC2):c.1204G>C (p.Val402Leu)
|
rs549821020
|
|
NM_024577.4(SH3TC2):c.1205T>C (p.Val402Ala)
|
|
|
NM_024577.4(SH3TC2):c.1209G>C (p.Arg403Ser)
|
rs1212536660
|
|
NM_024577.4(SH3TC2):c.1211C>T (p.Pro404Leu)
|
rs774001683
|
|
NM_024577.4(SH3TC2):c.1213G>T (p.Gly405Cys)
|
|
|
NM_024577.4(SH3TC2):c.1223G>T (p.Trp408Leu)
|
rs777133915
|
|
NM_024577.4(SH3TC2):c.1228G>A (p.Glu410Lys)
|
rs1309091718
|
|
NM_024577.4(SH3TC2):c.1228dup (p.Glu410fs)
|
|
|
NM_024577.4(SH3TC2):c.1233_1235dup (p.His411dup)
|
rs886060198
|
|
NM_024577.4(SH3TC2):c.1244G>C (p.Gly415Ala)
|
rs1561765509
|
|
NM_024577.4(SH3TC2):c.1244G>T (p.Gly415Val)
|
rs1561765509
|
|
NM_024577.4(SH3TC2):c.1245G>T (p.Gly415=)
|
|
|
NM_024577.4(SH3TC2):c.1253A>C (p.Gln418Pro)
|
rs1441405268
|
|
NM_024577.4(SH3TC2):c.1267G>T (p.Glu423Ter)
|
|
|
NM_024577.4(SH3TC2):c.1271A>C (p.Asp424Ala)
|
|
|
NM_024577.4(SH3TC2):c.1272C>G (p.Asp424Glu)
|
rs377342074
|
|
NM_024577.4(SH3TC2):c.1273T>G (p.Ser425Ala)
|
rs1469647354
|
|
NM_024577.4(SH3TC2):c.1275C>T (p.Ser425=)
|
|
|
NM_024577.4(SH3TC2):c.1282G>T (p.Glu428Ter)
|
rs1554121777
|
|
NM_024577.4(SH3TC2):c.1285G>T (p.Glu429Ter)
|
rs111995807
|
|
NM_024577.4(SH3TC2):c.1292T>A (p.Leu431His)
|
rs1554121776
|
|
NM_024577.4(SH3TC2):c.1297T>C (p.Ser433Pro)
|
|
|
NM_024577.4(SH3TC2):c.1299G>C (p.Ser433=)
|
rs140904010
|
|
NM_024577.4(SH3TC2):c.1300G>A (p.Ala434Thr)
|
rs1368926236
|
|
NM_024577.4(SH3TC2):c.1305C>A (p.Thr435=)
|
|
|
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr)
|
rs1754119445
|
|
NM_024577.4(SH3TC2):c.1311C>A (p.Asp437Glu)
|
|
|
NM_024577.4(SH3TC2):c.1311C>G (p.Asp437Glu)
|
rs749587305
|
|
NM_024577.4(SH3TC2):c.1336G>A (p.Asp446Asn)
|
|
|
NM_024577.4(SH3TC2):c.1338C>A (p.Asp446Glu)
|
rs1580901388
|
|
NM_024577.4(SH3TC2):c.1340T>C (p.Leu447Pro)
|
|
|
NM_024577.4(SH3TC2):c.1341T>G (p.Leu447=)
|
|
|
NM_024577.4(SH3TC2):c.1346A>G (p.Asp449Gly)
|
rs1489505012
|
|
NM_024577.4(SH3TC2):c.1347C>A (p.Asp449Glu)
|
|
|
NM_024577.4(SH3TC2):c.1351G>T (p.Glu451Ter)
|
rs1308058909
|
|
NM_024577.4(SH3TC2):c.1360A>G (p.Met454Val)
|
rs1554121765
|
|
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer)
|
rs1580901363
|
|
NM_024577.4(SH3TC2):c.1373C>A (p.Thr458Asn)
|
rs1234062925
|
|
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350
|
|
NM_024577.4(SH3TC2):c.1391C>T (p.Ala464Val)
|
|
|
NM_024577.4(SH3TC2):c.1401C>A (p.Phe467Leu)
|
rs150950962
|
|
NM_024577.4(SH3TC2):c.1402G>A (p.Ala468Thr)
|
|
|
NM_024577.4(SH3TC2):c.1402_1403del (p.Ala468fs)
|
rs876661068
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsAA (p.Ala468Asn)
|
rs863224780
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780
|
|
NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser)
|
rs1370966250
|
|
NM_024577.4(SH3TC2):c.1406C>T (p.Pro469Leu)
|
|
|
NM_024577.4(SH3TC2):c.1407C>G (p.Pro469=)
|
|
|
NM_024577.4(SH3TC2):c.1408A>G (p.Ile470Val)
|
rs779447016
|
|
NM_024577.4(SH3TC2):c.1408A>T (p.Ile470Leu)
|
|
|
NM_024577.4(SH3TC2):c.1422G>C (p.Leu474=)
|
rs1201058981
|
|
NM_024577.4(SH3TC2):c.1427A>G (p.His476Arg)
|
rs1673272488
|
|
NM_024577.4(SH3TC2):c.142A>T (p.Ile48Phe)
|
rs543440112
|
|
NM_024577.4(SH3TC2):c.1440T>A (p.Ala480=)
|
|
|
NM_024577.4(SH3TC2):c.1451A>G (p.Lys484Arg)
|
|
|
NM_024577.4(SH3TC2):c.1451A>T (p.Lys484Met)
|
|
|
NM_024577.4(SH3TC2):c.1462_1465dup (p.Phe489Ter)
|
|
|
NM_024577.4(SH3TC2):c.1463A>G (p.Asp488Gly)
|
rs1416723910
|
|
NM_024577.4(SH3TC2):c.1468T>C (p.Ser490Pro)
|
rs372841815
|
|
NM_024577.4(SH3TC2):c.1469_1471del (p.Ser490del)
|
rs755728218
|
|
NM_024577.4(SH3TC2):c.1472_1474del (p.Phe491del)
|
|
|
NM_024577.4(SH3TC2):c.1473C>A (p.Phe491Leu)
|
|
|
NM_024577.4(SH3TC2):c.1488T>C (p.Ser496=)
|
|
|
NM_024577.4(SH3TC2):c.148C>T (p.Pro50Ser)
|
rs1057518369
|
|
NM_024577.4(SH3TC2):c.1490C>T (p.Ser497Phe)
|
rs768299505
|
|
NM_024577.4(SH3TC2):c.1504T>C (p.Ser502Pro)
|
rs1754109858
|
|
NM_024577.4(SH3TC2):c.151+15_151+16del
|
rs569906096
|
|
NM_024577.4(SH3TC2):c.151+16A>G
|
|
|
NM_024577.4(SH3TC2):c.151+19C>T
|
|
|
NM_024577.4(SH3TC2):c.1512G>A (p.Glu504=)
|
rs1580901194
|
|
NM_024577.4(SH3TC2):c.1517A>G (p.Glu506Gly)
|
|
|
NM_024577.4(SH3TC2):c.151G>A (p.Asp51Asn)
|
|
|
NM_024577.4(SH3TC2):c.152-16C>T
|
|
|
NM_024577.4(SH3TC2):c.152-239G>A
|
rs115259259
|
|
NM_024577.4(SH3TC2):c.1520_1523del (p.Phe507fs)
|
rs1561765311
|
|
NM_024577.4(SH3TC2):c.1531C>G (p.Leu511Val)
|
rs1437440770
|
|
NM_024577.4(SH3TC2):c.1537G>T (p.Ala513Ser)
|
rs1554121737
|
|
NM_024577.4(SH3TC2):c.1546A>T (p.Lys516Ter)
|
rs2127397561
|
|
NM_024577.4(SH3TC2):c.154C>T (p.Leu52=)
|
rs1243181790
|
|
NM_024577.4(SH3TC2):c.1550G>A (p.Trp517Ter)
|
|
|
NM_024577.4(SH3TC2):c.1556_1557insCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys519delinsAsnGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2127397557
|
|
NM_024577.4(SH3TC2):c.1557_1558insGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys520delinsAlaGlyArgGlyGlySerCysLeuTer)
|
rs2127397555
|
|
NM_024577.4(SH3TC2):c.1579C>T (p.His527Tyr)
|
|
|
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val)
|
rs537134516
|
|
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=)
|
rs762967613
|
|
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp)
|
rs863224781
|
|
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)
|
rs863224454
|
|
NM_024577.4(SH3TC2):c.1589T>C (p.Leu530Pro)
|
|
|
NM_024577.4(SH3TC2):c.1596C>T (p.Phe532=)
|
|
|
NM_024577.4(SH3TC2):c.1597C>T (p.Leu533Phe)
|
rs1554121725
|
|
NM_024577.4(SH3TC2):c.159A>G (p.Thr53=)
|
|
|
NM_024577.4(SH3TC2):c.1603_1611del (p.Gly535_Leu537del)
|
|
|
NM_024577.4(SH3TC2):c.160C>T (p.Leu54Phe)
|
rs759220976
|
|
NM_024577.4(SH3TC2):c.1614C>T (p.Ser538=)
|
|
|
NM_024577.4(SH3TC2):c.1619G>A (p.Arg540Lys)
|
|
|
NM_024577.4(SH3TC2):c.1627A>G (p.Lys543Glu)
|
rs2127397529
|
|
NM_024577.4(SH3TC2):c.163_164del (p.Ser55fs)
|
rs2127402305
|
|
NM_024577.4(SH3TC2):c.1647G>A (p.Val549=)
|
|
|
NM_024577.4(SH3TC2):c.1654G>C (p.Glu552Gln)
|
rs551953142
|
|
NM_024577.4(SH3TC2):c.165C>T (p.Ser55=)
|
|
|
NM_024577.4(SH3TC2):c.1662del (p.Ile555fs)
|
rs863224520
|
|
NM_024577.4(SH3TC2):c.1679del (p.Gly560fs)
|
|
|
NM_024577.4(SH3TC2):c.167_169del (p.Phe56del)
|
|
|
NM_024577.4(SH3TC2):c.1689G>C (p.Glu563Asp)
|
|
|
NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)
|
|
|
NM_024577.4(SH3TC2):c.1692C>T (p.Asp564=)
|
|
|
NM_024577.4(SH3TC2):c.1698C>T (p.Ser566=)
|
|
|
NM_024577.4(SH3TC2):c.169T>G (p.Cys57Gly)
|
|
|
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro)
|
rs1580900970
|
|
NM_024577.4(SH3TC2):c.1717dup (p.Ile573fs)
|
|
|
NM_024577.4(SH3TC2):c.1719C>T (p.Ile573=)
|
|
|
NM_024577.4(SH3TC2):c.171T>C (p.Cys57=)
|
|
|
NM_024577.4(SH3TC2):c.172G>A (p.Val58Ile)
|
|
|
NM_024577.4(SH3TC2):c.1731C>T (p.Ala577=)
|
rs2127397492
|
|
NM_024577.4(SH3TC2):c.1737C>A (p.Tyr579Ter)
|
rs1754104323
|
|
NM_024577.4(SH3TC2):c.1738C>A (p.Leu580Met)
|
rs1561765207
|
|
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs)
|
rs80338924
|
|
NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr)
|
rs757781673
|
|
NM_024577.4(SH3TC2):c.1749G>A (p.Arg583=)
|
|
|
NM_024577.4(SH3TC2):c.1754G>A (p.Arg585Lys)
|
rs1754104023
|
|
NM_024577.4(SH3TC2):c.1782G>A (p.Lys594=)
|
rs2127397464
|
|
NM_024577.4(SH3TC2):c.1794G>C (p.Leu598=)
|
rs1554121710
|
|
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)
|
rs200332172
|
|
NM_024577.4(SH3TC2):c.1797G>T (p.Leu599=)
|
|
|
NM_024577.4(SH3TC2):c.1798G>A (p.Ala600Thr)
|
|
|
NM_024577.4(SH3TC2):c.1800C>T (p.Ala600=)
|
|
|
NM_024577.4(SH3TC2):c.1803C>T (p.Cys601=)
|
|
|
NM_024577.4(SH3TC2):c.1804del (p.Leu602fs)
|
rs1319576439
|
|
NM_024577.4(SH3TC2):c.1806G>A (p.Leu602=)
|
|
|
NM_024577.4(SH3TC2):c.1823G>A (p.Ser608Asn)
|
|
|
NM_024577.4(SH3TC2):c.1827C>A (p.Ala609=)
|
rs373737817
|
|
NM_024577.4(SH3TC2):c.1829dup (p.His611fs)
|
|
|
NM_024577.4(SH3TC2):c.1831C>A (p.His611Asn)
|
rs886060197
|
|
NM_024577.4(SH3TC2):c.1834G>T (p.Glu612Ter)
|
|
|
NM_024577.4(SH3TC2):c.1837C>T (p.Leu613Phe)
|
|
|
NM_024577.4(SH3TC2):c.1840G>T (p.Asp614Tyr)
|
rs201789838
|
|
NM_024577.4(SH3TC2):c.1845G>A (p.Val615=)
|
rs914238218
|
|
NM_024577.4(SH3TC2):c.1849G>A (p.Ala617Thr)
|
|
|
NM_024577.4(SH3TC2):c.1855G>A (p.Val619Met)
|
|
|
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu)
|
rs1196218767
|
|
NM_024577.4(SH3TC2):c.1865A>C (p.Gln622Pro)
|
|
|
NM_024577.4(SH3TC2):c.1868_1869del (p.Gly623fs)
|
rs1554121691
|
|
NM_024577.4(SH3TC2):c.1869G>T (p.Gly623=)
|
rs1219611610
|
|
NM_024577.4(SH3TC2):c.1875G>A (p.Val625=)
|
|
|
NM_024577.4(SH3TC2):c.1876G>T (p.Val626Leu)
|
rs1311201400
|
|
NM_024577.4(SH3TC2):c.187A>G (p.Arg63Gly)
|
|
|
NM_024577.4(SH3TC2):c.1880G>A (p.Gly627Asp)
|
rs1380546665
|
|
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys)
|
rs1580900765
|
|
NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs)
|
rs1580900758
|
|
NM_024577.4(SH3TC2):c.1896G>A (p.Glu632=)
|
|
|
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs)
|
rs1064797314
|
|
NM_024577.4(SH3TC2):c.18C>T (p.Cys6=)
|
|
|
NM_024577.4(SH3TC2):c.1905C>T (p.Ala635=)
|
rs2127397406
|
|
NM_024577.4(SH3TC2):c.1915del (p.Ala639fs)
|
rs1580900732
|
|
NM_024577.4(SH3TC2):c.191G>A (p.Arg64Lys)
|
|
|
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)
|
rs199991156
|
|
NM_024577.4(SH3TC2):c.1923C>T (p.Arg641=)
|
|
|
NM_024577.4(SH3TC2):c.1926_1927delinsTT (p.Leu642_Leu643delinsPhePhe)
|
|
|
NM_024577.4(SH3TC2):c.1929C>T (p.Leu643=)
|
|
|
NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser)
|
rs571440448
|
|
NM_024577.4(SH3TC2):c.1941C>T (p.Gly647=)
|
|
|
NM_024577.4(SH3TC2):c.1943G>A (p.Arg648Gln)
|
rs149077357
|
|
NM_024577.4(SH3TC2):c.1944G>T (p.Arg648=)
|
|
|
NM_024577.4(SH3TC2):c.1946A>G (p.His649Arg)
|
|
|
NM_024577.4(SH3TC2):c.1948G>A (p.Glu650Lys)
|
|
|
NM_024577.4(SH3TC2):c.1959G>T (p.Leu653=)
|
rs1554121674
|
|
NM_024577.4(SH3TC2):c.1960C>T (p.Pro654Ser)
|
rs1754098320
|
|
NM_024577.4(SH3TC2):c.1982T>C (p.Leu661Pro)
|
rs80338927
|
|
NM_024577.4(SH3TC2):c.1983C>T (p.Leu661=)
|
|
|
NM_024577.4(SH3TC2):c.1985T>C (p.Leu662Pro)
|
rs1580900642
|
|
NM_024577.4(SH3TC2):c.1988C>G (p.Ser663Cys)
|
rs1754097515
|
|
NM_024577.4(SH3TC2):c.1992A>G (p.Gly664=)
|
rs1380437828
|
|
NM_024577.4(SH3TC2):c.1995C>T (p.His665=)
|
rs751912297
|
|
NM_024577.4(SH3TC2):c.1996C>T (p.Pro666Ser)
|
|
|
NM_024577.4(SH3TC2):c.1998_1999del (p.Pro667fs)
|
|
|
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)
|
rs864309709
|
|
NM_024577.4(SH3TC2):c.2004del (p.Ser669fs)
|
rs1754097044
|
|
NM_024577.4(SH3TC2):c.2007T>C (p.Ser669=)
|
|
|
NM_024577.4(SH3TC2):c.200A>G (p.Asn67Ser)
|
rs772378888
|
|
NM_024577.4(SH3TC2):c.2015T>C (p.Val672Ala)
|
rs1754096756
|
|
NM_024577.4(SH3TC2):c.2015del (p.Val672fs)
|
rs1580900610
|
|
NM_024577.4(SH3TC2):c.2027T>C (p.Leu676Ser)
|
|
|
NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg)
|
rs1754096264
|
|
NM_024577.4(SH3TC2):c.2037G>A (p.Leu679=)
|
|
|
NM_024577.4(SH3TC2):c.2039dup (p.Tyr680Ter)
|
|
|
NM_024577.4(SH3TC2):c.2042A>T (p.Asp681Val)
|
|
|
NM_024577.4(SH3TC2):c.2051A>G (p.Tyr684Cys)
|
|
|
NM_024577.4(SH3TC2):c.2060A>G (p.His687Arg)
|
rs1171441665
|
|
NM_024577.4(SH3TC2):c.2062C>A (p.Leu688Ile)
|
rs773433720
|
|
NM_024577.4(SH3TC2):c.2070G>A (p.Val690=)
|
|
|
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs)
|
rs878855092
|
|
NM_024577.4(SH3TC2):c.2083C>T (p.Gln695Ter)
|
rs770170997
|
|
NM_024577.4(SH3TC2):c.2085A>T (p.Gln695His)
|
|
|
NM_024577.4(SH3TC2):c.2089G>A (p.Gly697Ser)
|
|
|
NM_024577.4(SH3TC2):c.2090G>T (p.Gly697Val)
|
rs2127397326
|
|
NM_024577.4(SH3TC2):c.2094C>T (p.Ile698=)
|
rs886060196
|
|
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter)
|
rs1754094644
|
|
NM_024577.4(SH3TC2):c.2109G>C (p.Gly703=)
|
rs758849704
|
|
NM_024577.4(SH3TC2):c.2110A>T (p.Met704Leu)
|
|
|
NM_024577.4(SH3TC2):c.2116C>A (p.Leu706Ile)
|
rs1317532477
|
|
NM_024577.4(SH3TC2):c.2124T>A (p.Ile708=)
|
rs2127397311
|
|
NM_024577.4(SH3TC2):c.2133C>G (p.Val711=)
|
rs986521742
|
|
NM_024577.4(SH3TC2):c.2136C>T (p.His712=)
|
rs190680171
|
|
NM_024577.4(SH3TC2):c.2145C>T (p.Leu715=)
|
rs1421062539
|
|
NM_024577.4(SH3TC2):c.2146C>T (p.Gln716Ter)
|
rs1561764925
|
|
NM_024577.4(SH3TC2):c.2149A>G (p.Asn717Asp)
|
|
|
NM_024577.4(SH3TC2):c.2151C>T (p.Asn717=)
|
|
|
NM_024577.4(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs)
|
rs80338919
|
|
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=)
|
rs1754092804
|
|
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs)
|
rs1580900473
|
|
NM_024577.4(SH3TC2):c.2198C>A (p.Ser733Tyr)
|
rs2127397284
|
|
NM_024577.4(SH3TC2):c.2199T>A (p.Ser733=)
|
rs1220210982
|
|
NM_024577.4(SH3TC2):c.21C>G (p.Ile7Met)
|
|
|
NM_024577.4(SH3TC2):c.2201C>T (p.Ala734Val)
|
|
|
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter)
|
rs1318388071
|
|
NM_024577.4(SH3TC2):c.2211_2213del (p.Cys737_Pro738delinsTer)
|
rs1580900438
|
|
NM_024577.4(SH3TC2):c.2212C>T (p.Pro738Ser)
|
|
|
NM_024577.4(SH3TC2):c.2218C>T (p.Leu740Phe)
|
rs2127397272
|
|
NM_024577.4(SH3TC2):c.2226G>A (p.Gln742=)
|
rs1580900427
|
|
NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly)
|
rs974346945
|
|
NM_024577.4(SH3TC2):c.2230C>G (p.Leu744Val)
|
rs962648069
|
|
NM_024577.4(SH3TC2):c.2241T>C (p.Cys747=)
|
rs779264091
|
|
NM_024577.4(SH3TC2):c.2253_2256dup (p.Ser754fs)
|
|
|
NM_024577.4(SH3TC2):c.2262C>T (p.Ser754=)
|
|
|
NM_024577.4(SH3TC2):c.2263A>C (p.Thr755Pro)
|
rs1332446150
|
|
NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala)
|
rs1332446150
|
|
NM_024577.4(SH3TC2):c.2266C>T (p.Gln756Ter)
|
|
|
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met)
|
rs1754090424
|
|
NM_024577.4(SH3TC2):c.227G>C (p.Arg76Thr)
|
rs1754493155
|
|
NM_024577.4(SH3TC2):c.2285T>C (p.Ile762Thr)
|
rs751351645
|
|
NM_024577.4(SH3TC2):c.2288T>C (p.Leu763Pro)
|
rs1580900331
|
|
NM_024577.4(SH3TC2):c.2297T>C (p.Val766Ala)
|
|
|
NM_024577.4(SH3TC2):c.2299T>C (p.Tyr767His)
|
rs2127397225
|
|
NM_024577.4(SH3TC2):c.229C>A (p.Arg77=)
|
rs185149793
|
|
NM_024577.4(SH3TC2):c.2302C>T (p.Leu768Phe)
|
|
|
NM_024577.4(SH3TC2):c.2311A>G (p.Arg771Gly)
|
rs1754089250
|
|
NM_024577.4(SH3TC2):c.2329A>G (p.Ile777Val)
|
|
|
NM_024577.4(SH3TC2):c.2331C>A (p.Ile777=)
|
|
|
NM_024577.4(SH3TC2):c.2339T>C (p.Leu780Pro)
|
|
|
NM_024577.4(SH3TC2):c.233_239del (p.Leu78fs)
|
rs2127402263
|
|
NM_024577.4(SH3TC2):c.2362C>A (p.Gln788Lys)
|
|
|
NM_024577.4(SH3TC2):c.2368C>T (p.Leu790=)
|
rs2127397177
|
|
NM_024577.4(SH3TC2):c.2380G>C (p.Glu794Gln)
|
|
|
NM_024577.4(SH3TC2):c.2386T>C (p.Phe796Leu)
|
|
|
NM_024577.4(SH3TC2):c.2389del (p.Glu797fs)
|
|
|
NM_024577.4(SH3TC2):c.2398C>G (p.Leu800Val)
|
|
|
NM_024577.4(SH3TC2):c.239C>A (p.Ala80Glu)
|
|
|
NM_024577.4(SH3TC2):c.2400C>A (p.Leu800=)
|
|
|
NM_024577.4(SH3TC2):c.2403_2404delinsAA (p.Cys801_Leu802delinsTer)
|
rs2127397160
|
|
NM_024577.4(SH3TC2):c.2410T>G (p.Trp804Gly)
|
|
|
NM_024577.4(SH3TC2):c.2411G>C (p.Trp804Ser)
|
|
|
NM_024577.4(SH3TC2):c.2414C>T (p.Ala805Val)
|
|
|
NM_024577.4(SH3TC2):c.2418T>G (p.Tyr806Ter)
|
rs1561764735
|
|
NM_024577.4(SH3TC2):c.2429G>A (p.Ser810Asn)
|
|
|
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)
|
rs1580900150
|
|
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His)
|
rs746538256
|
|
NM_024577.4(SH3TC2):c.243G>A (p.Leu81=)
|
|
|
NM_024577.4(SH3TC2):c.2458G>A (p.Glu820Lys)
|
rs1754083548
|
|
NM_024577.4(SH3TC2):c.2464C>T (p.Leu822=)
|
rs752906301
|
|
NM_024577.4(SH3TC2):c.2488G>T (p.Glu830Ter)
|
rs879254317
|
|
NM_024577.4(SH3TC2):c.2489_2492del (p.Glu830fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.2514C>G (p.Ile838Met)
|
|
|
NM_024577.4(SH3TC2):c.2514C>T (p.Ile838=)
|
|
|
NM_024577.4(SH3TC2):c.2534C>T (p.Ala845Val)
|
|
|
NM_024577.4(SH3TC2):c.2538C>T (p.Leu846=)
|
|
|
NM_024577.4(SH3TC2):c.253del (p.Asp85fs)
|
rs1580914356
|
|
NM_024577.4(SH3TC2):c.2544T>G (p.Gly848=)
|
|
|
NM_024577.4(SH3TC2):c.2549G>C (p.Gly850Ala)
|
rs749133472
|
|
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val)
|
rs567173388
|
|
NM_024577.4(SH3TC2):c.2551C>G (p.Arg851Gly)
|
|
|
NM_024577.4(SH3TC2):c.2551_2552delinsAA (p.Arg851Lys)
|
|
|
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
|
rs1754081385
|
|
NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met)
|
rs1754081317
|
|
NM_024577.4(SH3TC2):c.2555T>G (p.Val852Gly)
|
|
|
NM_024577.4(SH3TC2):c.255C>T (p.Asp85=)
|
rs886060199
|
|
NM_024577.4(SH3TC2):c.2560A>C (p.Arg854=)
|
|
|
NM_024577.4(SH3TC2):c.2560A>G (p.Arg854Gly)
|
|
|
NM_024577.4(SH3TC2):c.2576A>G (p.Tyr859Cys)
|
|
|
NM_024577.4(SH3TC2):c.2578C>G (p.Leu860Val)
|
rs139958177
|
|
NM_024577.4(SH3TC2):c.2580T>C (p.Leu860=)
|
|
|
NM_024577.4(SH3TC2):c.2582G>C (p.Arg861Pro)
|
rs142971473
|
|
NM_024577.4(SH3TC2):c.2586C>T (p.Ala862=)
|
|
|
NM_024577.4(SH3TC2):c.2598C>T (p.Ala866=)
|
|
|
NM_024577.4(SH3TC2):c.2599C>T (p.Gln867Ter)
|
rs2127397072
|
|
NM_024577.4(SH3TC2):c.2600A>T (p.Gln867Leu)
|
|
|
NM_024577.4(SH3TC2):c.2602G>A (p.Glu868Lys)
|
|
|
NM_024577.4(SH3TC2):c.2609G>A (p.Gly870Glu)
|
rs1754079774
|
|
NM_024577.4(SH3TC2):c.2615T>C (p.Val872Ala)
|
|
|
NM_024577.4(SH3TC2):c.2629G>A (p.Val877Met)
|
|
|
NM_024577.4(SH3TC2):c.2633C>A (p.Ala878Asp)
|
rs1580899932
|
|
NM_024577.4(SH3TC2):c.2634T>C (p.Ala878=)
|
|
|
NM_024577.4(SH3TC2):c.2635A>G (p.Met879Val)
|
|
|
NM_024577.4(SH3TC2):c.2640del (p.Asn881fs)
|
rs1561764569
|
|
NM_024577.4(SH3TC2):c.2641A>G (p.Asn881Asp)
|
rs1245478540
|
|
NM_024577.4(SH3TC2):c.2642A>T (p.Asn881Ile)
|
rs80338930
|
|
NM_024577.4(SH3TC2):c.2644C>T (p.Leu882Phe)
|
|
|
NM_024577.4(SH3TC2):c.2657G>A (p.Ser886Asn)
|
rs780085307
|
|
NM_024577.4(SH3TC2):c.2664G>A (p.Lys888=)
|
|
|
NM_024577.4(SH3TC2):c.2664G>T (p.Lys888Asn)
|
|
|
NM_024577.4(SH3TC2):c.266G>T (p.Arg89Leu)
|
rs189591944
|
|
NM_024577.4(SH3TC2):c.2696T>C (p.Leu899Pro)
|
rs112337746
|
|
NM_024577.4(SH3TC2):c.270G>A (p.Met90Ile)
|
|
|
NM_024577.4(SH3TC2):c.2717A>G (p.Tyr906Cys)
|
|
|
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=)
|
rs148073022
|
|
NM_024577.4(SH3TC2):c.2738A>G (p.Lys913Arg)
|
rs2127397025
|
|
NM_024577.4(SH3TC2):c.2744C>T (p.Thr915Ile)
|
rs1754076431
|
|
NM_024577.4(SH3TC2):c.275T>C (p.Phe92Ser)
|
rs2127402247
|
|
NM_024577.4(SH3TC2):c.2760A>G (p.Val920=)
|
|
|
NM_024577.4(SH3TC2):c.2780C>T (p.Ala927Val)
|
rs1754076016
|
|
NM_024577.4(SH3TC2):c.2785G>C (p.Val929Leu)
|
rs2127397007
|
|
NM_024577.4(SH3TC2):c.2787T>C (p.Val929=)
|
|
|
NM_024577.4(SH3TC2):c.279+101C>T
|
rs77336339
|
|
NM_024577.4(SH3TC2):c.279+13G>C
|
|
|
NM_024577.4(SH3TC2):c.279+17C>T
|
rs991958791
|
|
NM_024577.4(SH3TC2):c.279+20G>C
|
|
|
NM_024577.4(SH3TC2):c.279+5G>A
|
rs1371552621
|
|
NM_024577.4(SH3TC2):c.279+6_279+19dup
|
|
|
NM_024577.4(SH3TC2):c.2790G>C (p.Leu930=)
|
|
|
NM_024577.4(SH3TC2):c.280-1334dup
|
rs752479043
|
|
NM_024577.4(SH3TC2):c.280-16T>A
|
rs2127401469
|
|
NM_024577.4(SH3TC2):c.280-18A>G
|
rs1349104801
|
|
NM_024577.4(SH3TC2):c.280-2A>G
|
rs1561770798
|
|
NM_024577.4(SH3TC2):c.280-3T>C
|
|
|
NM_024577.4(SH3TC2):c.2814T>C (p.His938=)
|
|
|
NM_024577.4(SH3TC2):c.2818C>T (p.Leu940Phe)
|
rs1380115510
|
|
NM_024577.4(SH3TC2):c.282C>G (p.Asp94Glu)
|
rs1453743523
|
|
NM_024577.4(SH3TC2):c.2833A>G (p.Met945Val)
|
|
|
NM_024577.4(SH3TC2):c.2836G>T (p.Ala946Ser)
|
rs765951062
|
|
NM_024577.4(SH3TC2):c.2838_2850dup (p.Leu951fs)
|
rs2127396985
|
|
NM_024577.4(SH3TC2):c.283C>T (p.Leu95Phe)
|
rs541695222
|
|
NM_024577.4(SH3TC2):c.2849G>T (p.Gly950Val)
|
rs1754074456
|
|
NM_024577.4(SH3TC2):c.2853A>G (p.Leu951=)
|
|
|
NM_024577.4(SH3TC2):c.2856G>A (p.Arg952=)
|
|
|
NM_024577.4(SH3TC2):c.2859T>A (p.His953Gln)
|
|
|
NM_024577.4(SH3TC2):c.2864A>C (p.His955Pro)
|
rs1754073175
|
|
NM_024577.4(SH3TC2):c.2864A>T (p.His955Leu)
|
|
|
NM_024577.4(SH3TC2):c.2872+11C>T
|
|
|
NM_024577.4(SH3TC2):c.2872+14A>G
|
rs1374170282
|
|
NM_024577.4(SH3TC2):c.2872+4_2872+7del
|
rs1754073023
|
|
NM_024577.4(SH3TC2):c.2873-10T>A
|
rs1754070727
|
|
NM_024577.4(SH3TC2):c.2873-14T>A
|
rs1580899613
|
|
NM_024577.4(SH3TC2):c.2873-17C>T
|
rs1754070873
|
|
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn)
|
rs1205847384
|
|
NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu)
|
rs2127401458
|
|
NM_024577.4(SH3TC2):c.2884G>C (p.Ala962Pro)
|
|
|
NM_024577.4(SH3TC2):c.2887A>G (p.Thr963Ala)
|
|
|
NM_024577.4(SH3TC2):c.2888C>T (p.Thr963Ile)
|
|
|
NM_024577.4(SH3TC2):c.2897T>C (p.Leu966Pro)
|
rs1060501469
|
|
NM_024577.4(SH3TC2):c.289G>A (p.Ala97Thr)
|
rs562689036
|
|
NM_024577.4(SH3TC2):c.28del (p.Glu10fs)
|
rs80338918
|
|
NM_024577.4(SH3TC2):c.2904T>C (p.His968=)
|
rs2127396907
|
|
NM_024577.4(SH3TC2):c.2909A>G (p.Tyr970Cys)
|
|
|
NM_024577.4(SH3TC2):c.2910C>A (p.Tyr970Ter)
|
|
|
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala)
|
rs1554121529
|
|
NM_024577.4(SH3TC2):c.2935G>T (p.Ala979Ser)
|
rs369258246
|
|
NM_024577.4(SH3TC2):c.2942_2944dup (p.Ile981dup)
|
rs2127396888
|
|
NM_024577.4(SH3TC2):c.2957A>G (p.His986Arg)
|
rs1580899530
|
|
NM_024577.4(SH3TC2):c.295T>A (p.Leu99Met)
|
rs1561770787
|
|
NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met)
|
rs763964456
|
|
NM_024577.4(SH3TC2):c.2965G>A (p.Ala989Thr)
|
|
|
NM_024577.4(SH3TC2):c.2981T>C (p.Leu994Pro)
|
rs2127396874
|
|
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)
|
rs1174949678
|
|
NM_024577.4(SH3TC2):c.2991G>A (p.Arg997=)
|
|
|
NM_024577.4(SH3TC2):c.2995A>G (p.Met999Val)
|
|
|
NM_024577.4(SH3TC2):c.3006G>T (p.Arg1002Ser)
|
|
|
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter)
|
rs147895061
|
|
NM_024577.4(SH3TC2):c.3016del (p.Ser1006fs)
|
rs1554121513
|
|
NM_024577.4(SH3TC2):c.3018C>T (p.Ser1006=)
|
|
|
NM_024577.4(SH3TC2):c.3023G>C (p.Gly1008Ala)
|
rs2127396858
|
|
NM_024577.4(SH3TC2):c.3028C>T (p.Leu1010Phe)
|
rs1243271992
|
|
NM_024577.4(SH3TC2):c.3040del (p.Asn1013_Leu1014insTer)
|
|
|
NM_024577.4(SH3TC2):c.304A>G (p.Ile102Val)
|
rs2127401449
|
|
NM_024577.4(SH3TC2):c.3053+11G>T
|
|
|
NM_024577.4(SH3TC2):c.3053G>A (p.Arg1018Lys)
|
|
|
NM_024577.4(SH3TC2):c.3054-13T>C
|
|
|
NM_024577.4(SH3TC2):c.3054-173G>T
|
rs115476463
|
|
NM_024577.4(SH3TC2):c.3054-2A>C
|
rs1580891465
|
|
NM_024577.4(SH3TC2):c.3054-2A>G
|
|
|
NM_024577.4(SH3TC2):c.3060C>T (p.Leu1020=)
|
|
|
NM_024577.4(SH3TC2):c.3078C>A (p.Cys1026Ter)
|
rs2127393407
|
|
NM_024577.4(SH3TC2):c.307C>T (p.Gln103Ter)
|
|
|
NM_024577.4(SH3TC2):c.308A>T (p.Gln103Leu)
|
|
|
NM_024577.4(SH3TC2):c.3093G>A (p.Leu1031=)
|
|
|
NM_024577.4(SH3TC2):c.3099C>G (p.Ile1033Met)
|
rs1554120576
|
|
NM_024577.4(SH3TC2):c.30G>T (p.Glu10Asp)
|
rs755666455
|
|
NM_024577.4(SH3TC2):c.3101T>G (p.Phe1034Cys)
|
rs1753804665
|
|
NM_024577.4(SH3TC2):c.3110T>A (p.Leu1037Gln)
|
rs1580891410
|
|
NM_024577.4(SH3TC2):c.3115del (p.Glu1039fs)
|
|
|
NM_024577.4(SH3TC2):c.3117G>C (p.Glu1039Asp)
|
|
|
NM_024577.4(SH3TC2):c.311C>G (p.Ser104Cys)
|
|
|
NM_024577.4(SH3TC2):c.312dup (p.Gln105fs)
|
rs1554122973
|
|
NM_024577.4(SH3TC2):c.3132T>C (p.Ala1044=)
|
|
|
NM_024577.4(SH3TC2):c.3141del (p.Trp1047fs)
|
|
|
NM_024577.4(SH3TC2):c.3146G>T (p.Gly1049Val)
|
rs2127393379
|
|
NM_024577.4(SH3TC2):c.3147G>A (p.Gly1049=)
|
|
|
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)
|
rs370115218
|
|
NM_024577.4(SH3TC2):c.3155G>A (p.Arg1052Gln)
|
|
|
NM_024577.4(SH3TC2):c.315G>C (p.Gln105His)
|
rs1754426829
|
|
NM_024577.4(SH3TC2):c.3175G>A (p.Glu1059Lys)
|
|
|
NM_024577.4(SH3TC2):c.3181G>A (p.Glu1061Lys)
|
rs760656119
|
|
NM_024577.4(SH3TC2):c.3183G>A (p.Glu1061=)
|
rs1237080220
|
|
NM_024577.4(SH3TC2):c.3203A>G (p.Gln1068Arg)
|
|
|
NM_024577.4(SH3TC2):c.3204+16A>T
|
|
|
NM_024577.4(SH3TC2):c.3204+5G>A
|
rs1753801589
|
|
NM_024577.4(SH3TC2):c.3204+7C>A
|
|
|
NM_024577.4(SH3TC2):c.3205-20G>A
|
|
|
NM_024577.4(SH3TC2):c.3205-2A>G
|
rs2127392891
|
|
NM_024577.4(SH3TC2):c.3205-303dup
|
rs558621445
|
|
NM_024577.4(SH3TC2):c.320C>G (p.Ala107Gly)
|
rs1371951870
|
|
NM_024577.4(SH3TC2):c.3212T>C (p.Ile1071Thr)
|
|
|
NM_024577.4(SH3TC2):c.3213C>T (p.Ile1071=)
|
rs1753764451
|
|
NM_024577.4(SH3TC2):c.322_324del (p.Gln108del)
|
|
|
NM_024577.4(SH3TC2):c.3233_3234del (p.Glu1078fs)
|
rs1580889962
|
|
NM_024577.4(SH3TC2):c.3234G>A (p.Glu1078=)
|
|
|
NM_024577.4(SH3TC2):c.323A>G (p.Gln108Arg)
|
|
|
NM_024577.4(SH3TC2):c.3269C>G (p.Ala1090Gly)
|
|
|
NM_024577.4(SH3TC2):c.3272G>T (p.Gly1091Val)
|
|
|
NM_024577.4(SH3TC2):c.3277G>A (p.Val1093Met)
|
rs2127392867
|
|
NM_024577.4(SH3TC2):c.3291G>C (p.Gly1097=)
|
rs775530482
|
|
NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs)
|
rs1580889913
|
|
NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs)
|
rs1580889900
|
|
NM_024577.4(SH3TC2):c.3297C>T (p.Arg1099=)
|
|
|
NM_024577.4(SH3TC2):c.3303G>A (p.Arg1101=)
|
rs755006924
|
|
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)
|
rs864622664
|
|
NM_024577.4(SH3TC2):c.3305del (p.His1102fs)
|
rs1580889892
|
|
NM_024577.4(SH3TC2):c.3316G>A (p.Glu1106Lys)
|
|
|
NM_024577.4(SH3TC2):c.3318G>A (p.Glu1106=)
|
rs1412557262
|
|
NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter)
|
rs1580889866
|
|
NM_024577.4(SH3TC2):c.3326G>C (p.Arg1109Pro)
|
rs80338935
|
|
NM_024577.4(SH3TC2):c.3327+16G>A
|
|
|
NM_024577.4(SH3TC2):c.3327+1G>A
|
rs2127392839
|
|
NM_024577.4(SH3TC2):c.3327+225C>G
|
rs1025475
|
|
NM_024577.4(SH3TC2):c.3327+6T>G
|
|
|
NM_024577.4(SH3TC2):c.3327+8C>T
|
rs1243168218
|
|
NM_024577.4(SH3TC2):c.3328-12T>A
|
|
|
NM_024577.4(SH3TC2):c.3328-1G>T
|
rs1554120331
|
|
NM_024577.4(SH3TC2):c.3328-7T>C
|
rs2127392520
|
|
NM_024577.4(SH3TC2):c.3328-9T>C
|
rs1753738303
|
|
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs)
|
rs80338936
|
|
NM_024577.4(SH3TC2):c.3362C>A (p.Ala1121Glu)
|
rs115577291
|
|
NM_024577.4(SH3TC2):c.3364G>A (p.Val1122Met)
|
rs1554120326
|
|
NM_024577.4(SH3TC2):c.3371C>T (p.Thr1124Ile)
|
rs752094727
|
|
NM_024577.4(SH3TC2):c.3372T>C (p.Thr1124=)
|
|
|
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp)
|
rs1580888993
|
|
NM_024577.4(SH3TC2):c.3384T>A (p.Ile1128=)
|
|
|
NM_024577.4(SH3TC2):c.3386T>C (p.Phe1129Ser)
|
|
|
NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys)
|
|
|
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)
|
rs1222150652
|
|
NM_024577.4(SH3TC2):c.3432G>A (p.Lys1144=)
|
rs1580888944
|
|
NM_024577.4(SH3TC2):c.3433G>C (p.Ala1145Pro)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.3438G>A (p.Leu1146=)
|
rs2127392467
|
|
NM_024577.4(SH3TC2):c.343A>C (p.Thr115Pro)
|
|
|
NM_024577.4(SH3TC2):c.3443T>C (p.Phe1148Ser)
|
rs1753736056
|
|
NM_024577.4(SH3TC2):c.3457G>A (p.Ala1153Thr)
|
rs778351829
|
|
NM_024577.4(SH3TC2):c.3460A>G (p.Arg1154Gly)
|
|
|
NM_024577.4(SH3TC2):c.3466A>G (p.Ser1156Gly)
|
rs1320597279
|
|
NM_024577.4(SH3TC2):c.3472dup (p.Val1158fs)
|
rs2127392454
|
|
NM_024577.4(SH3TC2):c.3478+14A>C
|
|
|
NM_024577.4(SH3TC2):c.3478+2T>G
|
rs2127392445
|
|
NM_024577.4(SH3TC2):c.3478+37G>C
|
rs191877271
|
|
NM_024577.4(SH3TC2):c.3478+4G>A
|
|
|
NM_024577.4(SH3TC2):c.3478+5G>A
|
|
|
NM_024577.4(SH3TC2):c.3479-8A>C
|
|
|
NM_024577.4(SH3TC2):c.3491A>T (p.Gln1164Leu)
|
|
|
NM_024577.4(SH3TC2):c.349G>A (p.Glu117Lys)
|
|
|
NM_024577.4(SH3TC2):c.34A>G (p.Ser12Gly)
|
|
|
NM_024577.4(SH3TC2):c.3500T>G (p.Val1167Gly)
|
rs2127392009
|
|
NM_024577.4(SH3TC2):c.3504C>A (p.Ala1168=)
|
rs757201330
|
|
NM_024577.4(SH3TC2):c.3504C>T (p.Ala1168=)
|
rs757201330
|
|
NM_024577.4(SH3TC2):c.3504_3518del (p.Phe1169_Ala1173del)
|
|
|
NM_024577.4(SH3TC2):c.3508_3516del (p.His1170_Leu1172del)
|
rs1753702797
|
|
NM_024577.4(SH3TC2):c.3509A>G (p.His1170Arg)
|
|
|
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His)
|
rs200728983
|
|
NM_024577.4(SH3TC2):c.3512G>C (p.Arg1171Pro)
|
rs200728983
|
|
NM_024577.4(SH3TC2):c.3534C>A (p.Ser1178=)
|
rs2127391999
|
|
NM_024577.4(SH3TC2):c.3535C>T (p.Leu1179=)
|
rs1031965152
|
|
NM_024577.4(SH3TC2):c.3543G>A (p.Met1181Ile)
|
|
|
NM_024577.4(SH3TC2):c.3589C>T (p.Pro1197Ser)
|
rs1343590454
|
|
NM_024577.4(SH3TC2):c.3592C>T (p.Pro1198Ser)
|
rs1561756981
|
|
NM_024577.4(SH3TC2):c.3593_3594inv (p.Pro1198Leu)
|
|
|
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=)
|
rs6871030
|
|
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=)
|
rs6871030
|
|
NM_024577.4(SH3TC2):c.3600G>A (p.Leu1200=)
|
rs886060195
|
|
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)
|
rs80338937
|
|
NM_024577.4(SH3TC2):c.3602A>T (p.Gln1201Leu)
|
rs776962303
|
|
NM_024577.4(SH3TC2):c.3603G>A (p.Gln1201=)
|
|
|
NM_024577.4(SH3TC2):c.3607C>A (p.Pro1203Thr)
|
|
|
NM_024577.4(SH3TC2):c.3613G>A (p.Glu1205Lys)
|
rs926087682
|
|
NM_024577.4(SH3TC2):c.3617C>A (p.Ala1206Asp)
|
rs1753699992
|
|
NM_024577.4(SH3TC2):c.3621G>A (p.Leu1207=)
|
rs770300877
|
|
NM_024577.4(SH3TC2):c.362A>C (p.Lys121Thr)
|
rs1580912012
|
|
NM_024577.4(SH3TC2):c.362A>T (p.Lys121Met)
|
rs1580912012
|
|
NM_024577.4(SH3TC2):c.3634G>A (p.Val1212Met)
|
rs756174696
|
|
NM_024577.4(SH3TC2):c.3634G>T (p.Val1212Leu)
|
|
|
NM_024577.4(SH3TC2):c.3643C>A (p.Arg1215Ser)
|
rs267600481
|
|
NM_024577.4(SH3TC2):c.3643C>T (p.Arg1215Cys)
|
rs267600481
|
|
NM_024577.4(SH3TC2):c.3650del (p.Gly1217fs)
|
rs369695480
|
|
NM_024577.4(SH3TC2):c.3651C>A (p.Gly1217=)
|
rs1753699032
|
|
NM_024577.4(SH3TC2):c.3667C>G (p.Gln1223Glu)
|
|
|
NM_024577.4(SH3TC2):c.3675+17C>G
|
|
|
NM_024577.4(SH3TC2):c.3675+2dup
|
rs1554120215
|
|
NM_024577.4(SH3TC2):c.3675+505_3675+604del
|
|
|
NM_024577.4(SH3TC2):c.3676-118CAAA[8]
|
rs71274358
|
|
NM_024577.4(SH3TC2):c.3676-11C>A
|
|
|
NM_024577.4(SH3TC2):c.3676-13A>G
|
rs1753660598
|
|
NM_024577.4(SH3TC2):c.3676-18C>T
|
|
|
NM_024577.4(SH3TC2):c.3676-1G>A
|
rs1306229414
|
|
NM_024577.4(SH3TC2):c.3676-8G>A
|
rs772823083
|
|
NM_024577.4(SH3TC2):c.3676-98C>G
|
rs76014357
|
|
NM_024577.4(SH3TC2):c.367T>C (p.Ser123Pro)
|
|
|
NM_024577.4(SH3TC2):c.3684T>A (p.His1228Gln)
|
rs1753659994
|
|
NM_024577.4(SH3TC2):c.3688G>A (p.Ala1230Thr)
|
|
|
NM_024577.4(SH3TC2):c.3688G>T (p.Ala1230Ser)
|
|
|
NM_024577.4(SH3TC2):c.3692_3693del (p.Thr1231fs)
|
|
|
NM_024577.4(SH3TC2):c.369C>T (p.Ser123=)
|
|
|
NM_024577.4(SH3TC2):c.370A>T (p.Thr124Ser)
|
|
|
NM_024577.4(SH3TC2):c.3720A>T (p.Ala1240=)
|
|
|
NM_024577.4(SH3TC2):c.3728T>C (p.Leu1243Pro)
|
|
|
NM_024577.4(SH3TC2):c.3729G>A (p.Leu1243=)
|
rs1335682517
|
|
NM_024577.4(SH3TC2):c.3733_3734del (p.Leu1244_Gly1245insTer)
|
rs2127391399
|
|
NM_024577.4(SH3TC2):c.3757A>C (p.Ile1253Leu)
|
rs147931490
|
|
NM_024577.4(SH3TC2):c.3762G>A (p.Arg1254=)
|
rs374376222
|
|
NM_024577.4(SH3TC2):c.3768G>A (p.Arg1256=)
|
|
|
NM_024577.4(SH3TC2):c.3768G>T (p.Arg1256Ser)
|
|
|
NM_024577.4(SH3TC2):c.3771G>A (p.Leu1257=)
|
rs1472880531
|
|
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly)
|
rs1753657973
|
|
NM_024577.4(SH3TC2):c.3779T>G (p.Ile1260Ser)
|
rs1753657850
|
|
NM_024577.4(SH3TC2):c.3784C>G (p.Gln1262Glu)
|
|
|
NM_024577.4(SH3TC2):c.3789C>A (p.Ser1263Arg)
|
rs1210794926
|
|
NM_024577.4(SH3TC2):c.3790C>G (p.Pro1264Ala)
|
rs945895550
|
|
NM_024577.4(SH3TC2):c.3791C>G (p.Pro1264Arg)
|
rs1753657395
|
|
NM_024577.4(SH3TC2):c.3793C>T (p.Leu1265=)
|
|
|
NM_024577.4(SH3TC2):c.3795G>A (p.Leu1265=)
|
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_024577.4(SH3TC2):c.3804C>T (p.Ser1268=)
|
rs1434453673
|
|
NM_024577.4(SH3TC2):c.3805A>T (p.Arg1269Trp)
|
rs1753656892
|
|
NM_024577.4(SH3TC2):c.3806G>C (p.Arg1269Thr)
|
|
|
NM_024577.4(SH3TC2):c.3807G>A (p.Arg1269=)
|
|
|
NM_024577.4(SH3TC2):c.3807G>T (p.Arg1269Ser)
|
rs370090569
|
|
NM_024577.4(SH3TC2):c.3810C>T (p.Pro1270=)
|
rs2127391368
|
|
NM_024577.4(SH3TC2):c.3816G>T (p.Gly1272=)
|
rs1038817068
|
|
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter)
|
rs1754425628
|
|
NM_024577.4(SH3TC2):c.3846T>C (p.Ser1282=)
|
|
|
NM_024577.4(SH3TC2):c.3846TGG[2] (p.Gly1285del)
|
rs1554120043
|
|
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys)
|
rs370844006
|
|
NM_024577.4(SH3TC2):c.385+16A>G
|
|
|
NM_024577.4(SH3TC2):c.385+1G>T
|
rs2127401413
|
|
NM_024577.4(SH3TC2):c.385+2T>C
|
rs773554464
|
|
NM_024577.4(SH3TC2):c.385+4_385+8del
|
rs148930563
|
|
NM_024577.4(SH3TC2):c.385+9C>T
|
rs1561770736
|
|
NM_024577.4(SH3TC2):c.3851G>A (p.Gly1284Asp)
|
rs771840516
|
|
NM_024577.4(SH3TC2):c.3853G>A (p.Gly1285Ser)
|
|
|
NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val)
|
rs1261276778
|
|
NM_024577.4(SH3TC2):c.386-10G>A
|
rs1580910938
|
|
NM_024577.4(SH3TC2):c.386-12T>C
|
rs370151955
|
|
NM_024577.4(SH3TC2):c.386-18G>A
|
|
|
NM_024577.4(SH3TC2):c.386-18G>T
|
|
|
NM_024577.4(SH3TC2):c.391G>A (p.Val131Ile)
|
|
|
NM_024577.4(SH3TC2):c.407A>G (p.Glu136Gly)
|
|
|
NM_024577.4(SH3TC2):c.412CTC[1] (p.Leu139del)
|
|
|
NM_024577.4(SH3TC2):c.414C>T (p.Leu138=)
|
rs2127400982
|
|
NM_024577.4(SH3TC2):c.425A>G (p.His142Arg)
|
rs1168407927
|
|
NM_024577.4(SH3TC2):c.42C>T (p.Thr14=)
|
rs2127406106
|
|
NM_024577.4(SH3TC2):c.437T>C (p.Leu146Pro)
|
rs2127400975
|
|
NM_024577.4(SH3TC2):c.438C>A (p.Leu146=)
|
rs976553031
|
|
NM_024577.4(SH3TC2):c.439A>G (p.Asn147Asp)
|
rs1423301895
|
|
NM_024577.4(SH3TC2):c.43C>T (p.Arg15Trp)
|
|
|
NM_024577.4(SH3TC2):c.440A>G (p.Asn147Ser)
|
|
|
NM_024577.4(SH3TC2):c.452T>C (p.Val151Ala)
|
rs779715536
|
|
NM_024577.4(SH3TC2):c.46G>A (p.Gly16Ser)
|
rs753975938
|
|
NM_024577.4(SH3TC2):c.473_481del (p.Val158_Val160del)
|
rs1554122850
|
|
NM_024577.4(SH3TC2):c.483T>A (p.Asp161Glu)
|
rs768029461
|
|
NM_024577.4(SH3TC2):c.483T>C (p.Asp161=)
|
rs768029461
|
|
NM_024577.4(SH3TC2):c.48C>T (p.Gly16=)
|
rs1580924418
|
|
NM_024577.4(SH3TC2):c.493C>T (p.Leu165=)
|
|
|
NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter)
|
rs1554122847
|
|
NM_024577.4(SH3TC2):c.4G>A (p.Gly2Ser)
|
rs1554124107
|
|
NM_024577.4(SH3TC2):c.4G>T (p.Gly2Cys)
|
rs1554124107
|
|
NM_024577.4(SH3TC2):c.507C>T (p.Tyr169=)
|
rs1754392291
|
|
NM_024577.4(SH3TC2):c.508C>G (p.Leu170Val)
|
rs2127400948
|
|
NM_024577.4(SH3TC2):c.515T>C (p.Leu172Pro)
|
|
|
NM_024577.4(SH3TC2):c.515T>G (p.Leu172Arg)
|
rs1408319932
|
|
NM_024577.4(SH3TC2):c.52+11dup
|
rs2127406089
|
|
NM_024577.4(SH3TC2):c.52+4A>G
|
rs1170747720
|
|
NM_024577.4(SH3TC2):c.52+4_52+5del
|
rs879254057
|
|
NM_024577.4(SH3TC2):c.524del (p.Gln175fs)
|
rs1561770179
|
|
NM_024577.4(SH3TC2):c.525G>A (p.Gln175=)
|
rs2127400937
|
|
NM_024577.4(SH3TC2):c.529+14del
|
|
|
NM_024577.4(SH3TC2):c.529+7G>A
|
rs747615694
|
|
NM_024577.4(SH3TC2):c.53-17del
|
rs1754572524
|
|
NM_024577.4(SH3TC2):c.53-2A>G
|
rs2127403412
|
|
NM_024577.4(SH3TC2):c.53-4C>T
|
|
|
NM_024577.4(SH3TC2):c.53-5T>C
|
rs1186354032
|
|
NM_024577.4(SH3TC2):c.53-5_53-3del
|
|
|
NM_024577.4(SH3TC2):c.530-1G>A
|
rs1580910061
|
|
NM_024577.4(SH3TC2):c.530-2A>G
|
rs80338920
|
|
NM_024577.4(SH3TC2):c.530G>A (p.Gly177Asp)
|
|
|
NM_024577.4(SH3TC2):c.535T>G (p.Phe179Val)
|
|
|
NM_024577.4(SH3TC2):c.536TCT[1] (p.Phe180del)
|
rs763476083
|
|
NM_024577.4(SH3TC2):c.538T>G (p.Phe180Val)
|
|
|
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter)
|
rs1580917136
|
|
NM_024577.4(SH3TC2):c.550C>T (p.Leu184=)
|
rs1210183194
|
|
NM_024577.4(SH3TC2):c.558C>A (p.Ser186=)
|
rs141289653
|
|
NM_024577.4(SH3TC2):c.560T>C (p.Val187Ala)
|
rs1554122762
|
|
NM_024577.4(SH3TC2):c.561G>A (p.Val187=)
|
rs2127400689
|
|
NM_024577.4(SH3TC2):c.566C>T (p.Pro189Leu)
|
|
|
NM_024577.4(SH3TC2):c.571G>C (p.Ala191Pro)
|
rs2127400685
|
|
NM_024577.4(SH3TC2):c.573C>A (p.Ala191=)
|
|
|
NM_024577.4(SH3TC2):c.573C>T (p.Ala191=)
|
|
|
NM_024577.4(SH3TC2):c.581A>G (p.Glu194Gly)
|
|
|
NM_024577.4(SH3TC2):c.588A>T (p.Glu196Asp)
|
|
|
NM_024577.4(SH3TC2):c.58G>T (p.Glu20Ter)
|
rs1580917130
|
|
NM_024577.4(SH3TC2):c.591C>A (p.Cys197Ter)
|
|
|
NM_024577.4(SH3TC2):c.601T>G (p.Cys201Gly)
|
|
|
NM_024577.4(SH3TC2):c.602G>A (p.Cys201Tyr)
|
|
|
NM_024577.4(SH3TC2):c.603C>T (p.Cys201=)
|
rs760150466
|
|
NM_024577.4(SH3TC2):c.609T>G (p.Asn203Lys)
|
rs1754371704
|
|
NM_024577.4(SH3TC2):c.620C>G (p.Ser207Ter)
|
rs1754371447
|
|
NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu)
|
rs1754371447
|
|
NM_024577.4(SH3TC2):c.628A>G (p.Met210Val)
|
|
|
NM_024577.4(SH3TC2):c.638C>T (p.Ala213Val)
|
rs1754371089
|
|
NM_024577.4(SH3TC2):c.641G>A (p.Gly214Asp)
|
|
|
NM_024577.4(SH3TC2):c.643T>C (p.Ser215Pro)
|
|
|
NM_024577.4(SH3TC2):c.64C>G (p.Pro22Ala)
|
|
|
NM_024577.4(SH3TC2):c.650T>C (p.Leu217Ser)
|
|
|
NM_024577.4(SH3TC2):c.656G>A (p.Gly219Asp)
|
rs748374150
|
|
NM_024577.4(SH3TC2):c.656G>T (p.Gly219Val)
|
|
|
NM_024577.4(SH3TC2):c.657C>G (p.Gly219=)
|
|
|
NM_024577.4(SH3TC2):c.661T>C (p.Ser221Pro)
|
rs747024391
|
|
NM_024577.4(SH3TC2):c.676C>T (p.Gln226Ter)
|
rs2127400649
|
|
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)
|
rs532463685
|
|
NM_024577.4(SH3TC2):c.682G>A (p.Gly228Ser)
|
rs751022040
|
|
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=)
|
rs1025939209
|
|
NM_024577.4(SH3TC2):c.688del (p.Val230fs)
|
rs775740308
|
|
NM_024577.4(SH3TC2):c.696G>C (p.Val232=)
|
|
|
NM_024577.4(SH3TC2):c.720C>A (p.Leu240=)
|
|
|
NM_024577.4(SH3TC2):c.731+14T>C
|
|
|
NM_024577.4(SH3TC2):c.731+17C>A
|
rs1188522082
|
|
NM_024577.4(SH3TC2):c.731+1G>A
|
|
|
NM_024577.4(SH3TC2):c.731+2T>G
|
rs2127400622
|
|
NM_024577.4(SH3TC2):c.731+4A>G
|
|
|
NM_024577.4(SH3TC2):c.731+5G>A
|
rs879254316
|
|
NM_024577.4(SH3TC2):c.732-19C>A
|
|
|
NM_024577.4(SH3TC2):c.732-20C>A
|
|
|
NM_024577.4(SH3TC2):c.732-6T>C
|
rs1554122676
|
|
NM_024577.4(SH3TC2):c.734G>T (p.Trp245Leu)
|
rs751095271
|
|
NM_024577.4(SH3TC2):c.746A>G (p.Asn249Ser)
|
rs760971566
|
|
NM_024577.4(SH3TC2):c.748_750del (p.Tyr250del)
|
rs1064795016
|
|
NM_024577.4(SH3TC2):c.753A>T (p.Pro251=)
|
rs2127400486
|
|
NM_024577.4(SH3TC2):c.758G>C (p.Ser253Thr)
|
rs2127400485
|
|
NM_024577.4(SH3TC2):c.766C>T (p.Leu256Phe)
|
|
|
NM_024577.4(SH3TC2):c.788C>A (p.Thr263Lys)
|
|
|
NM_024577.4(SH3TC2):c.790G>C (p.Gly264Arg)
|
|
|
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr)
|
rs1580909284
|
|
NM_024577.4(SH3TC2):c.805+18A>T
|
|
|
NM_024577.4(SH3TC2):c.805+2T>C
|
rs139052887
|
|
NM_024577.4(SH3TC2):c.805+3A>C
|
|
|
NM_024577.4(SH3TC2):c.806-12T>C
|
|
|
NM_024577.4(SH3TC2):c.806-1G>A
|
rs1554122560
|
|
NM_024577.4(SH3TC2):c.806-3C>T
|
rs1241993356
|
|
NM_024577.4(SH3TC2):c.814C>G (p.Arg272Gly)
|
|
|
NM_024577.4(SH3TC2):c.819T>C (p.Cys273=)
|
rs2127400023
|
|
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter)
|
rs1754320158
|
|
NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs)
|
rs879253859
|
|
NM_024577.4(SH3TC2):c.822G>A (p.Lys274=)
|
|
|
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
|
rs1754319130
|
|
NM_024577.4(SH3TC2):c.826T>A (p.Leu276Met)
|
rs1580908028
|
|
NM_024577.4(SH3TC2):c.828G>C (p.Leu276Phe)
|
rs1754319874
|
|
NM_024577.4(SH3TC2):c.82G>A (p.Val28Ile)
|
|
|
NM_024577.4(SH3TC2):c.832G>A (p.Gly278Ser)
|
rs1204913371
|
|
NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val)
|
rs757292503
|
|
NM_024577.4(SH3TC2):c.841C>A (p.Pro281Thr)
|
|
|
NM_024577.4(SH3TC2):c.849A>G (p.Glu283=)
|
rs2127400009
|
|
NM_024577.4(SH3TC2):c.852G>C (p.Lys284Asn)
|
|
|
NM_024577.4(SH3TC2):c.854A>G (p.Asp285Gly)
|
rs763037689
|
|
NM_024577.4(SH3TC2):c.856G>A (p.Glu286Lys)
|
rs2127400005
|
|
NM_024577.4(SH3TC2):c.895G>A (p.Gly299Ser)
|
rs1233598157
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NM_024577.4(SH3TC2):c.896G>C (p.Gly299Ala)
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rs1222332332
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NM_024577.4(SH3TC2):c.8G>A (p.Gly3Asp)
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rs1465198831
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NM_024577.4(SH3TC2):c.902T>C (p.Val301Ala)
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rs1754317882
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NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg)
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rs1754317705
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NM_024577.4(SH3TC2):c.912G>A (p.Gly304=)
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rs757204346
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NM_024577.4(SH3TC2):c.912G>C (p.Gly304=)
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NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter)
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rs80338921
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NM_024577.4(SH3TC2):c.926T>C (p.Ile309Thr)
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rs1754317366
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NM_024577.4(SH3TC2):c.929dup (p.Ser312fs)
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rs2127399983
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NM_024577.4(SH3TC2):c.947G>A (p.Gly316Glu)
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rs1251082752
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NM_024577.4(SH3TC2):c.957del (p.Phe320fs)
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rs1554122541
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NM_024577.4(SH3TC2):c.964C>T (p.Pro322Ser)
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NM_024577.4(SH3TC2):c.968C>A (p.Thr323Asn)
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rs1312769510
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NM_024577.4(SH3TC2):c.96T>C (p.Cys32=)
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NM_024577.4(SH3TC2):c.96_99dup (p.Ala34fs)
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NM_024577.4(SH3TC2):c.971G>A (p.Arg324Lys)
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rs1754316511
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NM_024577.4(SH3TC2):c.974del (p.Asn325fs)
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rs1580907885
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NM_024577.4(SH3TC2):c.977T>C (p.Ile326Thr)
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rs1754316407
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NM_024577.4(SH3TC2):c.995C>A (p.Ser332Tyr)
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