|
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
|
NM_182914.3(SYNE2):c.10697+29G>A
|
rs1255964
|
0.91279
|
|
NM_182914.3(SYNE2):c.8404A>G (p.Ser2802Gly)
|
rs1890908
|
0.91221
|
|
NM_182914.3(SYNE2):c.7183G>A (p.Ala2395Thr)
|
rs4027405
|
0.87610
|
|
NM_182961.4(SYNE1):c.17203-48G>A
|
rs4112833
|
0.85656
|
|
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met)
|
rs2306916
|
0.82174
|
|
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)
|
rs6911096
|
0.80856
|
|
NM_182914.3(SYNE2):c.6481C>T (p.Leu2161=)
|
rs10151127
|
0.80823
|
|
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)
|
rs9479297
|
0.80638
|
|
NM_182961.4(SYNE1):c.12352-39A>G
|
rs9479298
|
0.80324
|
|
NM_182961.4(SYNE1):c.1463+24G>T
|
rs4523096
|
0.78969
|
|
NM_182914.3(SYNE2):c.7076G>A (p.Ser2359Asn)
|
rs4027404
|
0.75629
|
|
NM_182914.3(SYNE2):c.9757G>C (p.Asp3253His)
|
rs8010911
|
0.72882
|
|
NM_182914.3(SYNE2):c.10213-43A>G
|
rs1255972
|
0.72793
|
|
NM_182914.3(SYNE2):c.6851C>T (p.Ala2284Val)
|
rs4027402
|
0.72784
|
|
NM_182914.3(SYNE2):c.5906T>C (p.Met1969Thr)
|
rs4902264
|
0.72634
|
|
NM_182914.3(SYNE2):c.9744+41G>A
|
rs10138253
|
0.72582
|
|
NM_182914.3(SYNE2):c.8824A>G (p.Ile2942Val)
|
rs3829767
|
0.71158
|
|
NM_182914.3(SYNE2):c.591-45G>A
|
rs1255874
|
0.67518
|
|
NM_182914.3(SYNE2):c.*581G>A
|
rs7229
|
0.66854
|
|
NM_182914.3(SYNE2):c.*386G>C
|
rs1152582
|
0.66492
|
|
NM_182914.3(SYNE2):c.20062-119G>C
|
rs1152588
|
0.66235
|
|
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)
|
rs4407724
|
0.64816
|
|
NM_182961.4(SYNE1):c.19471-18C>T
|
rs6557210
|
0.64435
|
|
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)
|
rs2256135
|
0.62211
|
|
NM_182961.4(SYNE1):c.11734-5T>G
|
rs9478320
|
0.59305
|
|
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=)
|
rs9397102
|
0.57769
|
|
NM_182961.4(SYNE1):c.11580+15C>T
|
rs6908392
|
0.57402
|
|
NM_182914.3(SYNE2):c.15556C>A (p.Leu5186Met)
|
rs10151658
|
0.56664
|
|
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp)
|
rs4645434
|
0.55815
|
|
NM_182914.3(SYNE2):c.80-12732A>T
|
rs12878312
|
0.53695
|
|
NM_001159699.2(FHL1):c.737-8C>T
|
rs2076705
|
0.53498
|
|
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52364
|
|
NM_182914.3(SYNE2):c.18390-48A>G
|
rs1152592
|
0.51946
|
|
NM_182961.4(SYNE1):c.3505-39A>C
|
rs502268
|
0.51916
|
|
NM_000257.4(MYH7):c.-9+23T>C
|
rs2239578
|
0.51695
|
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51584
|
|
NM_182914.3(SYNE2):c.19333+5C>T
|
rs1152590
|
0.50736
|
|
NM_182961.4(SYNE1):c.1047+4T>A
|
rs9397106
|
0.50379
|
|
NM_001130965.3(SUN1):c.352C>T (p.His118Tyr)
|
rs6461378
|
0.50005
|
|
NM_182961.4(SYNE1):c.9147-13G>A
|
rs214955
|
0.49738
|
|
NM_182961.4(SYNE1):c.12795-12A>G
|
rs9478314
|
0.48867
|
|
NM_182961.4(SYNE1):c.8177+20A>T
|
rs214943
|
0.48837
|
|
NM_182961.4(SYNE1):c.17346+38C>T
|
rs9371581
|
0.48251
|
|
NM_182914.3(SYNE2):c.17938T>C (p.Leu5980=)
|
rs2256191
|
0.47326
|
|
NM_182961.4(SYNE1):c.7713-49G>A
|
rs214944
|
0.47302
|
|
NM_001130965.3(SUN1):c.451+91C>T
|
rs6415241
|
0.45739
|
|
NM_182961.4(SYNE1):c.9651+47C>T
|
rs1873176
|
0.45478
|
|
NM_182961.4(SYNE1):c.7029+45T>C
|
rs177330
|
0.43899
|
|
NM_000257.4(MYH7):c.2967T>C (p.Ile989=)
|
rs7157716
|
0.43030
|
|
NM_182914.3(SYNE2):c.15543C>T (p.Ile5181=)
|
rs11629287
|
0.40212
|
|
NM_001130965.3(SUN1):c.1422A>G (p.Thr474=)
|
rs10950789
|
0.40179
|
|
NM_182914.3(SYNE2):c.12381+43T>C
|
rs9323444
|
0.39334
|
|
NM_182961.4(SYNE1):c.1351-24A>T
|
rs4331993
|
0.38135
|
|
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala)
|
rs2252755
|
0.36980
|
|
NM_015374.3(SUN2):c.1824A>G (p.Gln608=)
|
rs1062687
|
0.36735
|
|
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)
|
rs2340917
|
0.35127
|
|
NM_182914.3(SYNE2):c.17202C>A (p.Leu5734=)
|
rs7161192
|
0.33500
|
|
NM_001347702.2(SYNE1):c.1458A>G (p.Glu486=)
|
rs2747662
|
0.33426
|
|
NM_182914.3(SYNE2):c.2473-22T>G
|
rs1255908
|
0.31704
|
|
NM_182914.3(SYNE2):c.4578-4T>A
|
rs7146588
|
0.30679
|
|
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=)
|
rs2252748
|
0.29787
|
|
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn)
|
rs4685076
|
0.29043
|
|
NM_000257.4(MYH7):c.732C>T (p.Phe244=)
|
rs2069542
|
0.27385
|
|
NM_182961.4(SYNE1):c.21656+13T>C
|
rs9383976
|
0.26855
|
|
NM_182961.4(SYNE1):c.130-25C>T
|
rs2141152
|
0.26785
|
|
NM_182961.4(SYNE1):c.17346+7G>A
|
rs9383985
|
0.26223
|
|
NM_182914.3(SYNE2):c.19857G>T (p.Leu6619=)
|
rs35648226
|
0.24610
|
|
NM_182914.3(SYNE2):c.*221T>C
|
rs1048315
|
0.24247
|
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
|
NM_182914.3(SYNE2):c.*133C>A
|
rs1152583
|
0.23742
|
|
NM_182961.4(SYNE1):c.*182G>A
|
rs12681
|
0.23624
|
|
NM_033071.4(SYNE1):c.*750G>T
|
rs2813558
|
0.23608
|
|
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val)
|
rs214950
|
0.23524
|
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
|
NM_182961.4(SYNE1):c.*103C>A
|
rs2250122
|
0.19913
|
|
NM_182961.4(SYNE1):c.20530-14G>A
|
rs2296254
|
0.19082
|
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
|
NM_001130965.3(SUN1):c.1779+16G>A
|
rs4276575
|
0.16511
|
|
NM_024334.3(TMEM43):c.883-47C>T
|
rs2731320
|
0.16071
|
|
NM_000257.4(MYH7):c.1128C>T (p.Asp376=)
|
rs2231126
|
0.15761
|
|
NM_001130965.3(SUN1):c.1426G>A (p.Glu476Lys)
|
rs59910530
|
0.14947
|
|
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)
|
rs3729830
|
0.14676
|
|
NM_182961.4(SYNE1):c.17745C>T (p.His5915=)
|
rs12664753
|
0.14557
|
|
NM_000257.4(MYH7):c.1095G>A (p.Lys365=)
|
rs735711
|
0.13859
|
|
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=)
|
rs3798756
|
0.13297
|
|
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=)
|
rs71575926
|
0.12377
|
|
NM_182914.3(SYNE2):c.*662T>A
|
rs13136
|
0.12054
|
|
NM_182914.3(SYNE2):c.399G>C (p.Leu133=)
|
rs33976862
|
0.11557
|
|
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser)
|
rs17082236
|
0.11250
|
|
NM_182914.3(SYNE2):c.11613A>G (p.Val3871=)
|
rs17101637
|
0.10790
|
|
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met)
|
rs2295190
|
0.10350
|
|
NM_182914.3(SYNE2):c.14844-5G>C
|
rs17825431
|
0.10335
|
|
NM_182961.4(SYNE1):c.8177+9C>T
|
rs56877632
|
0.09596
|
|
NM_182961.4(SYNE1):c.17202+24G>A
|
rs12662994
|
0.09437
|
|
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr)
|
rs9944035
|
0.08879
|
|
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg)
|
rs2792205
|
0.08782
|
|
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter)
|
rs2781377
|
0.08740
|
|
NM_015374.3(SUN2):c.2011G>A (p.Gly671Ser)
|
rs2072797
|
0.08698
|
|
NM_182914.3(SYNE2):c.6865T>C (p.Leu2289=)
|
rs11850509
|
0.08174
|
|
NM_015374.3(SUN2):c.266T>G (p.Leu89Arg)
|
rs35496634
|
0.07876
|
|
NM_182914.3(SYNE2):c.9389A>G (p.Asn3130Ser)
|
rs11847087
|
0.07400
|
|
NM_182914.3(SYNE2):c.11794-17C>T
|
rs10137916
|
0.07337
|
|
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn)
|
rs28385621
|
0.07062
|
|
NM_182961.4(SYNE1):c.3306C>T (p.His1102=)
|
rs17082701
|
0.06632
|
|
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=)
|
rs3734365
|
0.06565
|
|
NM_000257.4(MYH7):c.*113G>A
|
rs17794387
|
0.06427
|
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
|
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val)
|
rs17082709
|
0.06016
|
|
NM_182961.4(SYNE1):c.19104+17A>G
|
rs17082389
|
0.05731
|
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
|
NM_182914.3(SYNE2):c.12609+16T>C
|
rs8015551
|
0.05151
|
|
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile)
|
rs35591210
|
0.05093
|
|
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=)
|
rs58905396
|
0.05078
|
|
NM_182914.3(SYNE2):c.4177C>T (p.Arg1393Trp)
|
rs17751301
|
0.04972
|
|
NM_182961.4(SYNE1):c.10145+12T>C
|
rs112401775
|
0.04924
|
|
NM_182914.3(SYNE2):c.16722A>G (p.Gln5574=)
|
rs17101704
|
0.04797
|
|
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu)
|
rs111250109
|
0.04561
|
|
NM_182914.3(SYNE2):c.2314-20A>G
|
rs17101523
|
0.04363
|
|
NM_182914.3(SYNE2):c.14776T>C (p.Leu4926=)
|
rs8007874
|
0.04106
|
|
NM_001130965.3(SUN1):c.606C>T (p.Pro202=)
|
rs113652875
|
0.04063
|
|
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=)
|
rs9383987
|
0.04048
|
|
NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu)
|
rs34625768
|
0.03914
|
|
NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly)
|
rs7157465
|
0.03914
|
|
NM_182914.3(SYNE2):c.4536A>G (p.Thr1512=)
|
rs11158524
|
0.03853
|
|
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=)
|
rs73626656
|
0.03822
|
|
NM_182914.3(SYNE2):c.14737G>A (p.Glu4913Lys)
|
rs12881815
|
0.03757
|
|
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=)
|
rs35085679
|
0.03417
|
|
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=)
|
rs10499268
|
0.03416
|
|
NM_000257.4(MYH7):c.1605A>G (p.Glu535=)
|
rs2069543
|
0.03319
|
|
NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala)
|
rs17766354
|
0.03286
|
|
NM_182914.3(SYNE2):c.3559A>C (p.Ile1187Leu)
|
rs57259697
|
0.03281
|
|
NM_182914.3(SYNE2):c.2409C>A (p.Ser803=)
|
rs17101525
|
0.03277
|
|
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=)
|
rs34891041
|
0.03277
|
|
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln)
|
rs35203186
|
0.03124
|
|
NM_182914.3(SYNE2):c.13423-7C>G
|
rs7140414
|
0.03110
|
|
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp)
|
rs34843668
|
0.02941
|
|
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val)
|
rs11628107
|
0.02936
|
|
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys)
|
rs2130262
|
0.02821
|
|
NM_182961.4(SYNE1):c.26002-4A>G
|
rs77220999
|
0.02717
|
|
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=)
|
rs60344647
|
0.02693
|
|
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln)
|
rs76160752
|
0.02687
|
|
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met)
|
rs2306914
|
0.02635
|
|
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=)
|
rs36044575
|
0.02562
|
|
NM_024334.3(TMEM43):c.163-14C>T
|
rs113745859
|
0.02553
|
|
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg)
|
rs75989452
|
0.02484
|
|
NM_182961.4(SYNE1):c.7556+14A>G
|
rs78034368
|
0.02406
|
|
NM_182914.3(SYNE2):c.12840+8T>C
|
rs145218296
|
0.02317
|
|
NM_182914.3(SYNE2):c.12626T>C (p.Ile4209Thr)
|
rs61747118
|
0.02309
|
|
NM_182914.3(SYNE2):c.13254C>A (p.Asn4418Lys)
|
rs36021513
|
0.02290
|
|
NM_182914.3(SYNE2):c.13918-16G>A
|
rs61987278
|
0.02270
|
|
NM_182961.4(SYNE1):c.*583A>G
|
rs3756933
|
0.02216
|
|
NM_182914.3(SYNE2):c.11385G>A (p.Lys3795=)
|
rs34954189
|
0.02196
|
|
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His)
|
rs117501809
|
0.02182
|
|
NM_182914.3(SYNE2):c.8422C>T (p.Leu2808=)
|
rs35960129
|
0.02175
|
|
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys)
|
rs34610829
|
0.02158
|
|
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr)
|
rs13210127
|
0.02151
|
|
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=)
|
rs138705766
|
0.02134
|
|
NM_001130965.3(SUN1):c.911-12C>G
|
rs117540096
|
0.02102
|
|
NM_182914.2(SYNE2):c.-224C>T
|
rs143315154
|
0.02037
|
|
NM_182914.3(SYNE2):c.*827G>A
|
rs870404
|
0.02018
|
|
NM_182914.3(SYNE2):c.1296C>A (p.Ser432Arg)
|
rs35554503
|
0.02006
|
|
NM_182914.3(SYNE2):c.17556+4T>C
|
rs2297301
|
0.01974
|
|
NM_000257.4(MYH7):c.975C>T (p.Asp325=)
|
rs2231124
|
0.01865
|
|
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His)
|
rs17101661
|
0.01834
|
|
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=)
|
rs34905593
|
0.01683
|
|
NM_001130965.3(SUN1):c.2148+13G>A
|
rs142058474
|
0.01673
|
|
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=)
|
rs17082422
|
0.01643
|
|
NM_182914.3(SYNE2):c.10269C>G (p.Ile3423Met)
|
rs35920722
|
0.01612
|
|
NM_182961.4(SYNE1):c.19989T>C (p.His6663=)
|
rs61746395
|
0.01595
|
|
NM_015374.3(SUN2):c.1042C>T (p.Arg348Cys)
|
rs138708
|
0.01579
|
|
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser)
|
rs77121899
|
0.01555
|
|
NM_001130965.3(SUN1):c.278A>C (p.Gln93Pro)
|
rs78842948
|
0.01508
|
|
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)
|
rs7140196
|
0.01445
|
|
NM_000257.4(MYH7):c.1002C>T (p.Asn334=)
|
rs34803781
|
0.01418
|
|
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=)
|
rs34630198
|
0.01334
|
|
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met)
|
rs114508894
|
0.01330
|
|
NM_000257.4(MYH7):c.1767C>T (p.Asn589=)
|
rs3729816
|
0.01311
|
|
NM_001130965.3(SUN1):c.1646C>T (p.Thr549Met)
|
rs114015310
|
0.01300
|
|
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser)
|
rs116758271
|
0.01300
|
|
NM_001130965.3(SUN1):c.452-12T>G
|
rs201328717
|
0.01291
|
|
NM_182914.3(SYNE2):c.10196G>A (p.Arg3399His)
|
rs36039501
|
0.01281
|
|
NM_001159699.2(FHL1):c.737-13T>C
|
rs11798700
|
0.01269
|
|
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His)
|
rs145911138
|
0.01237
|
|
NM_182914.3(SYNE2):c.13266G>A (p.Gln4422=)
|
rs34944385
|
0.01230
|
|
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr)
|
rs115969845
|
0.01198
|
|
NM_182914.3(SYNE2):c.15794T>C (p.Val5265Ala)
|
rs142660236
|
0.01196
|
|
NM_182961.4(SYNE1):c.10145+18C>G
|
rs79796456
|
0.01179
|
|
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)
|
rs151315725
|
0.01175
|
|
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly)
|
rs35763277
|
0.01174
|
|
NM_000257.4(MYH7):c.3972+15C>T
|
rs3729820
|
0.01159
|
|
NM_001130965.3(SUN1):c.2043G>A (p.Arg681=)
|
rs61744747
|
0.01135
|
|
NM_000257.4(MYH7):c.-36C>T
|
rs45497293
|
0.01123
|
|
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=)
|
rs62426382
|
0.01086
|
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
|
NM_182914.3(SYNE2):c.14197C>A (p.Pro4733Thr)
|
rs75568433
|
0.01070
|
|
NM_001130965.3(SUN1):c.366C>T (p.Val122=)
|
rs41273066
|
0.01042
|
|
NM_015374.3(SUN2):c.1356C>T (p.Asp452=)
|
rs138079219
|
0.01038
|
|
NM_015374.3(SUN2):c.656C>T (p.Pro219Leu)
|
rs1883206
|
0.01037
|
|
NM_182961.4(SYNE1):c.402+11A>G
|
rs80276170
|
0.01033
|
|
NM_182914.3(SYNE2):c.*661T>A
|
rs192584109
|
0.01003
|
|
NM_182914.3(SYNE2):c.16639G>A (p.Asp5547Asn)
|
rs17179194
|
0.00998
|
|
NM_182914.3(SYNE2):c.19639A>G (p.Ile6547Val)
|
rs45453691
|
0.00993
|
|
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn)
|
rs76699382
|
0.00969
|
|
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=)
|
rs116007471
|
0.00967
|
|
NM_001130965.3(SUN1):c.911-15G>A
|
rs117993725
|
0.00961
|
|
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val)
|
rs76393834
|
0.00944
|
|
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg)
|
rs111449472
|
0.00935
|
|
NM_015374.3(SUN2):c.424+17C>T
|
rs114206377
|
0.00920
|
|
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=)
|
rs144596829
|
0.00916
|
|
NM_182914.3(SYNE2):c.13280+3A>G
|
rs113145581
|
0.00911
|
|
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=)
|
rs139524103
|
0.00909
|
|
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=)
|
rs117020413
|
0.00908
|
|
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser)
|
rs2295191
|
0.00898
|
|
NM_015374.3(SUN2):c.1701C>T (p.Tyr567=)
|
rs8138622
|
0.00894
|
|
NM_015374.3(SUN2):c.614+6C>T
|
rs116680988
|
0.00890
|
|
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His)
|
rs79486252
|
0.00887
|
|
NM_001130965.3(SUN1):c.2149-19T>C
|
rs116897811
|
0.00874
|
|
NM_182914.3(SYNE2):c.5187T>A (p.His1729Gln)
|
rs116597541
|
0.00866
|
|
NM_000257.4(MYH7):c.597A>G (p.Ala199=)
|
rs2069541
|
0.00853
|
|
NM_024334.3(TMEM43):c.222C>T (p.Pro74=)
|
rs34099410
|
0.00841
|
|
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala)
|
rs138693624
|
0.00841
|
|
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)
|
rs2754155
|
0.00831
|
|
NM_182914.3(SYNE2):c.16305G>A (p.Leu5435=)
|
rs116758464
|
0.00817
|
|
NM_182961.4(SYNE1):c.25246+18A>C
|
rs11756479
|
0.00816
|
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
|
NM_000257.4(MYH7):c.4520-25C>T
|
rs45503601
|
0.00787
|
|
NM_182961.4(SYNE1):c.12079-12G>T
|
rs73783853
|
0.00771
|
|
NM_182961.4(SYNE1):c.156T>C (p.Asp52=)
|
rs139156106
|
0.00761
|
|
NM_002471.4(MYH6):c.-64G>C
|
rs79618123
|
0.00747
|
|
NM_182914.3(SYNE2):c.13023+18A>G
|
rs147292814
|
0.00738
|
|
NM_182914.3(SYNE2):c.14020-15T>C
|
rs142777639
|
0.00734
|
|
NM_015374.3(SUN2):c.1132G>A (p.Val378Ile)
|
rs139004902
|
0.00721
|
|
NM_182914.3(SYNE2):c.12596A>G (p.Asn4199Ser)
|
rs35223918
|
0.00691
|
|
NM_182914.3(SYNE2):c.*103G>A
|
rs112904973
|
0.00681
|
|
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile)
|
rs151091241
|
0.00676
|
|
NM_001130965.3(SUN1):c.452-14del
|
rs200016671
|
0.00674
|
|
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=)
|
rs17082484
|
0.00664
|
|
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)
|
rs35924492
|
0.00660
|
|
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu)
|
rs35987150
|
0.00658
|
|
NM_182961.4(SYNE1):c.9972+19A>G
|
rs77322999
|
0.00654
|
|
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu)
|
rs114954026
|
0.00650
|
|
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn)
|
rs116000545
|
0.00649
|
|
NM_182961.4(SYNE1):c.25120-16G>T
|
rs139671151
|
0.00648
|
|
NM_182914.3(SYNE2):c.1482G>A (p.Leu494=)
|
rs117567094
|
0.00640
|
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
|
NM_001130965.3(SUN1):c.589G>A (p.Val197Met)
|
rs116520953
|
0.00634
|
|
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val)
|
rs35378260
|
0.00633
|
|
NM_182914.3(SYNE2):c.2934A>G (p.Glu978=)
|
rs34001379
|
0.00630
|
|
NM_182914.3(SYNE2):c.5517A>T (p.Leu1839Phe)
|
rs35883188
|
0.00626
|
|
NM_182914.3(SYNE2):c.14057A>G (p.Glu4686Gly)
|
rs10133691
|
0.00624
|
|
NM_182914.3(SYNE2):c.15256C>T (p.His5086Tyr)
|
rs2039475
|
0.00622
|
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
0.00615
|
|
NM_182914.3(SYNE2):c.2026A>G (p.Lys676Glu)
|
rs78191145
|
0.00610
|
|
NM_182914.3(SYNE2):c.15793-19G>A
|
rs4027394
|
0.00607
|
|
NM_001130965.3(SUN1):c.114G>A (p.Thr38=)
|
rs76073621
|
0.00603
|
|
NM_182914.3(SYNE2):c.7643+9A>G
|
rs115809466
|
0.00602
|
|
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn)
|
rs35493783
|
0.00602
|
|
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile)
|
rs35654757
|
0.00596
|
|
NM_015374.3(SUN2):c.97A>G (p.Thr33Ala)
|
rs2072799
|
0.00592
|
|
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys)
|
rs77675624
|
0.00591
|
|
NM_182961.4(SYNE1):c.4789-13G>A
|
rs142900784
|
0.00579
|
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
|
NM_182914.3(SYNE2):c.14430A>G (p.Thr4810=)
|
rs34248042
|
0.00566
|
|
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=)
|
rs139362680
|
0.00566
|
|
NM_182914.3(SYNE2):c.16522T>A (p.Ser5508Thr)
|
rs35190322
|
0.00565
|
|
NM_182914.3(SYNE2):c.13708-14C>A
|
rs11850329
|
0.00564
|
|
NM_182914.3(SYNE2):c.*663A>T
|
rs544882576
|
0.00551
|
|
NM_001130965.3(SUN1):c.2114A>G (p.Asn705Ser)
|
rs138051124
|
0.00549
|
|
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=)
|
rs148493518
|
0.00546
|
|
NM_001159699.2(FHL1):c.204+5C>T
|
rs182106777
|
0.00542
|
|
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
|
rs35028636
|
0.00535
|
|
NM_182914.3(SYNE2):c.888+17A>G
|
rs141247973
|
0.00534
|
|
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro)
|
rs117070973
|
0.00528
|
|
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met)
|
rs150912982
|
0.00528
|
|
NM_182961.4(SYNE1):c.10557A>T (p.Ser3519=)
|
rs73784326
|
0.00525
|
|
NM_182914.3(SYNE2):c.12378C>T (p.Ser4126=)
|
rs36007735
|
0.00524
|
|
NM_182914.3(SYNE2):c.5156T>C (p.Met1719Thr)
|
rs73277546
|
0.00523
|
|
NM_182914.3(SYNE2):c.20103G>A (p.Ala6701=)
|
rs75079588
|
0.00522
|
|
NM_001130965.3(SUN1):c.738G>T (p.Trp246Cys)
|
rs142011077
|
0.00518
|
|
NM_001130965.3(SUN1):c.78-4C>T
|
rs145390365
|
0.00515
|
|
NM_182914.3(SYNE2):c.7096T>C (p.Ser2366Pro)
|
rs35444312
|
0.00513
|
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
|
NM_182914.3(SYNE2):c.12612C>T (p.Gly4204=)
|
rs114604397
|
0.00503
|
|
NM_001130965.3(SUN1):c.608C>T (p.Ala203Val)
|
rs144929525
|
0.00496
|
|
NM_015374.3(SUN2):c.155G>A (p.Arg52His)
|
rs4510314
|
0.00486
|
|
NM_182914.3(SYNE2):c.2803T>C (p.Leu935=)
|
rs114718315
|
0.00474
|
|
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=)
|
rs62427038
|
0.00474
|
|
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=)
|
rs45501694
|
0.00469
|
|
NM_015374.3(SUN2):c.485C>T (p.Ala162Val)
|
rs62639696
|
0.00464
|
|
NM_000257.4(MYH7):c.*20G>A
|
rs45548631
|
0.00463
|
|
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys)
|
rs200842904
|
0.00462
|
|
NM_182914.3(SYNE2):c.1570-19T>C
|
rs186882913
|
0.00461
|
|
NM_001130965.3(SUN1):c.77+17A>T
|
rs143917535
|
0.00449
|
|
NM_182961.4(SYNE1):c.-391-9T>C
|
rs138926036
|
0.00447
|
|
NM_182914.3(SYNE2):c.6321C>T (p.Ser2107=)
|
rs143410137
|
0.00434
|
|
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
|
rs138787771
|
0.00432
|
|
NM_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn)
|
rs140508714
|
0.00431
|
|
NM_182961.4(SYNE1):c.5341A>T (p.Ile1781Phe)
|
rs141796889
|
0.00430
|
|
NM_000257.4(MYH7):c.3972+16G>A
|
rs114978322
|
0.00424
|
|
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)
|
rs143070183
|
0.00415
|
|
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile)
|
rs146001055
|
0.00412
|
|
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)
|
rs36215895
|
0.00411
|
|
NM_000117.3(EMD):c.465C>T (p.Tyr155=)
|
rs143447675
|
0.00404
|
|
NM_182914.3(SYNE2):c.16420T>A (p.Ser5474Thr)
|
rs114483901
|
0.00399
|
|
NM_182914.3(SYNE2):c.7469T>G (p.Val2490Gly)
|
rs34393543
|
0.00399
|
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
|
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=)
|
rs140861713
|
0.00395
|
|
NM_182961.4(SYNE1):c.20199+16C>T
|
rs114739771
|
0.00395
|
|
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=)
|
rs149670417
|
0.00388
|
|
NM_001130965.3(SUN1):c.1133A>G (p.His378Arg)
|
rs77831520
|
0.00384
|
|
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=)
|
rs141424852
|
0.00381
|
|
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met)
|
rs116600265
|
0.00379
|
|
NM_015374.3(SUN2):c.1372C>T (p.Pro458Ser)
|
rs76681049
|
0.00377
|
|
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala)
|
rs141464488
|
0.00359
|
|
NM_182914.3(SYNE2):c.11671-4C>A
|
rs193068394
|
0.00349
|
|
NM_182914.3(SYNE2):c.9502A>G (p.Ile3168Val)
|
rs193035848
|
0.00349
|
|
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala)
|
rs115786671
|
0.00346
|
|
NM_182914.3(SYNE2):c.19458C>T (p.Pro6486=)
|
rs144593270
|
0.00343
|
|
NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr)
|
rs34820571
|
0.00341
|
|
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile)
|
rs35079654
|
0.00339
|
|
NM_182914.3(SYNE2):c.6714+3G>A
|
rs142902034
|
0.00337
|
|
NM_001130965.3(SUN1):c.1580G>T (p.Gly527Val)
|
rs77058871
|
0.00335
|
|
NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp)
|
rs35700578
|
0.00335
|
|
NM_182961.4(SYNE1):c.17542-14A>G
|
rs111686341
|
0.00330
|
|
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=)
|
rs35106977
|
0.00325
|
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
|
NM_182914.3(SYNE2):c.11379T>C (p.Leu3793=)
|
rs149391344
|
0.00319
|
|
NC_000014.9:g.23408281C>T
|
rs142094404
|
0.00318
|
|
NM_000117.3(EMD):c.144C>T (p.Leu48=)
|
rs200537612
|
0.00315
|
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
|
NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln)
|
rs35831865
|
0.00309
|
|
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=)
|
rs75469773
|
0.00302
|
|
NM_000117.3(EMD):c.83-13C>G
|
rs201140396
|
0.00292
|
|
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)
|
rs74463786
|
0.00290
|
|
NM_182914.3(SYNE2):c.20596C>T (p.Leu6866=)
|
rs141474837
|
0.00289
|
|
NM_015374.3(SUN2):c.615-19G>A
|
rs189559627
|
0.00287
|
|
NM_182914.3(SYNE2):c.10510A>G (p.Thr3504Ala)
|
rs190518140
|
0.00287
|
|
NM_005572.3(LMNA):c.-223C>T
|
rs188625872
|
0.00284
|
|
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu)
|
rs150179494
|
0.00284
|
|
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys)
|
rs148346599
|
0.00283
|
|
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp)
|
rs34028822
|
0.00278
|
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00276
|
|
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=)
|
rs147402839
|
0.00276
|
|
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly)
|
rs35297226
|
0.00276
|
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
|
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=)
|
rs112266645
|
0.00274
|
|
NM_015374.3(SUN2):c.2001C>T (p.Tyr667=)
|
rs146141522
|
0.00273
|
|
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=)
|
rs114747836
|
0.00268
|
|
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)
|
rs3729821
|
0.00267
|
|
NM_182914.3(SYNE2):c.15781G>A (p.Val5261Ile)
|
rs144605670
|
0.00267
|
|
NM_182914.3(SYNE2):c.12560A>T (p.Asn4187Ile)
|
rs34480732
|
0.00262
|
|
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn)
|
rs150644129
|
0.00259
|
|
NM_182914.3(SYNE2):c.12984A>G (p.Lys4328=)
|
rs151314114
|
0.00255
|
|
NM_182961.4(SYNE1):c.17203-5C>T
|
rs886044642
|
0.00254
|
|
NM_182914.3(SYNE2):c.2560C>G (p.Gln854Glu)
|
rs34449017
|
0.00250
|
|
NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg)
|
rs78110192
|
0.00249
|
|
NM_000257.4(MYH7):c.3853+7C>T
|
rs45467397
|
0.00247
|
|
NM_182914.3(SYNE2):c.19415C>T (p.Ser6472Leu)
|
rs150955173
|
0.00242
|
|
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu)
|
rs139790539
|
0.00237
|
|
NM_001130965.3(SUN1):c.2199G>A (p.Thr733=)
|
rs200378884
|
0.00236
|
|
NM_182914.3(SYNE2):c.15160-18A>G
|
rs148916979
|
0.00236
|
|
NM_182914.3(SYNE2):c.6880-5C>T
|
rs187173455
|
0.00235
|
|
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=)
|
rs138769395
|
0.00232
|
|
NM_182914.3(SYNE2):c.20382+9A>G
|
rs116394628
|
0.00230
|
|
NM_182961.4(SYNE1):c.24297C>T (p.Ile8099=)
|
rs142222560
|
0.00227
|
|
NM_001130965.3(SUN1):c.2148+17G>A
|
rs202146795
|
0.00226
|
|
NM_182914.3(SYNE2):c.16095-10G>A
|
rs139126909
|
0.00225
|
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
|
NM_182914.3(SYNE2):c.11935C>G (p.Leu3979Val)
|
rs76576553
|
0.00220
|
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00217
|
|
NM_182914.3(SYNE2):c.7872A>C (p.Glu2624Asp)
|
rs140325055
|
0.00217
|
|
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys)
|
rs145195048
|
0.00217
|
|
NM_015374.3(SUN2):c.1302G>A (p.Ser434=)
|
rs141051927
|
0.00215
|
|
NM_182914.3(SYNE2):c.5395T>C (p.Leu1799=)
|
rs186427714
|
0.00207
|
|
NM_001130965.3(SUN1):c.1760C>T (p.Ala587Val)
|
rs114701323
|
0.00206
|
|
NM_015374.3(SUN2):c.1354G>A (p.Asp452Asn)
|
rs147351772
|
0.00205
|
|
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=)
|
rs147176678
|
0.00205
|
|
NM_182914.3(SYNE2):c.4521A>G (p.Gln1507=)
|
rs187183308
|
0.00204
|
|
NM_001130965.3(SUN1):c.2250C>T (p.Pro750=)
|
rs61741990
|
0.00203
|
|
NM_000117.3(EMD):c.399+18C>T
|
rs182540760
|
0.00199
|
|
NM_182914.3(SYNE2):c.18039-5T>A
|
rs189611387
|
0.00199
|
|
NM_001130965.3(SUN1):c.358G>A (p.Gly120Ser)
|
rs199666815
|
0.00195
|
|
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser)
|
rs144762960
|
0.00195
|
|
NM_182961.4(SYNE1):c.23461-6A>C
|
rs145098375
|
0.00194
|
|
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)
|
rs149978500
|
0.00193
|
|
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=)
|
rs138264334
|
0.00191
|
|
NM_000257.4(MYH7):c.-62C>T
|
rs45566639
|
0.00185
|
|
NM_182914.3(SYNE2):c.20197G>A (p.Glu6733Lys)
|
rs150172232
|
0.00181
|
|
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro)
|
rs150573158
|
0.00180
|
|
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val)
|
rs142000273
|
0.00180
|
|
NM_000257.4(MYH7):c.480C>T (p.Asn160=)
|
rs45500700
|
0.00178
|
|
NM_001130965.3(SUN1):c.2067C>T (p.Ala689=)
|
rs143436648
|
0.00178
|
|
NM_182914.3(SYNE2):c.8041G>A (p.Val2681Ile)
|
rs150946074
|
0.00178
|
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
|
NM_001130965.3(SUN1):c.1980+14G>A
|
rs192967321
|
0.00174
|
|
NM_182914.3(SYNE2):c.11530A>G (p.Ile3844Val)
|
rs140243093
|
0.00173
|
|
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=)
|
rs138628147
|
0.00173
|
|
NM_182914.3(SYNE2):c.1648+18C>T
|
rs150953678
|
0.00172
|
|
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu)
|
rs200742016
|
0.00172
|
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
|
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=)
|
rs73619386
|
0.00171
|
|
NM_001130965.3(SUN1):c.226G>T (p.Gly76Cys)
|
rs114826023
|
0.00170
|
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
|
NM_182914.3(SYNE2):c.*461C>T
|
rs143053440
|
0.00169
|
|
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)
|
rs148376885
|
0.00169
|
|
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn)
|
rs117480635
|
0.00166
|
|
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val)
|
rs150589796
|
0.00163
|
|
NM_001159699.2(FHL1):c.489C>T (p.Asp163=)
|
rs149670651
|
0.00162
|
|
NM_015374.3(SUN2):c.471C>T (p.Ser157=)
|
rs146940466
|
0.00160
|
|
NM_001130965.3(SUN1):c.2239C>T (p.Leu747=)
|
rs143543329
|
0.00158
|
|
NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser)
|
rs190582637
|
0.00157
|
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00156
|
|
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)
|
rs118187988
|
0.00154
|
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
|
NM_182914.3(SYNE2):c.13918-10T>C
|
rs184683378
|
0.00145
|
|
NM_015374.3(SUN2):c.1524G>A (p.Ala508=)
|
rs146770286
|
0.00142
|
|
NM_182914.3(SYNE2):c.16156C>T (p.Leu5386Phe)
|
rs184745422
|
0.00140
|
|
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=)
|
rs139590550
|
0.00140
|
|
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=)
|
rs74975380
|
0.00139
|
|
NM_182914.3(SYNE2):c.-169C>T
|
rs886050575
|
0.00138
|
|
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys)
|
rs141741640
|
0.00138
|
|
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys)
|
rs148997223
|
0.00138
|
|
NM_182914.3(SYNE2):c.16065C>A (p.Ile5355=)
|
rs36002764
|
0.00137
|
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00137
|
|
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp)
|
rs201146062
|
0.00135
|
|
NM_182961.4(SYNE1):c.18574-13T>C
|
rs148664724
|
0.00134
|
|
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly)
|
rs141315921
|
0.00134
|
|
NM_182961.4(SYNE1):c.3027+17C>T
|
rs375786325
|
0.00134
|
|
NM_001130965.3(SUN1):c.2237C>T (p.Ala746Val)
|
rs189728809
|
0.00133
|
|
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His)
|
rs144596211
|
0.00133
|
|
NM_182914.3(SYNE2):c.17388C>T (p.Pro5796=)
|
rs35744699
|
0.00133
|
|
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)
|
rs35379711
|
0.00133
|
|
NM_182914.3(SYNE2):c.10313G>A (p.Cys3438Tyr)
|
rs144108695
|
0.00132
|
|
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)
|
rs140927945
|
0.00132
|
|
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys)
|
rs200611311
|
0.00131
|
|
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)
|
rs150062167
|
0.00128
|
|
NM_001130965.3(SUN1):c.1980+11G>A
|
rs374700287
|
0.00127
|
|
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys)
|
rs143088941
|
0.00127
|
|
NM_182914.3(SYNE2):c.7606A>G (p.Met2536Val)
|
rs201406395
|
0.00127
|
|
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=)
|
rs138032057
|
0.00127
|
|
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu)
|
rs138004884
|
0.00126
|
|
NM_015374.3(SUN2):c.467G>A (p.Arg156Gln)
|
rs137925849
|
0.00125
|
|
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys)
|
rs138745849
|
0.00125
|
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
|
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr)
|
rs145871645
|
0.00121
|
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
|
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=)
|
rs150363140
|
0.00116
|
|
NM_182914.3(SYNE2):c.19334-15A>G
|
rs200114629
|
0.00116
|
|
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly)
|
rs45590135
|
0.00116
|
|
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)
|
rs141858284
|
0.00116
|
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
|
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val)
|
rs116721144
|
0.00114
|
|
NM_182914.3(SYNE2):c.19581A>C (p.Lys6527Asn)
|
rs141550472
|
0.00111
|
|
NM_182914.3(SYNE2):c.7643+6T>C
|
rs144143344
|
0.00111
|
|
NM_182961.4(SYNE1):c.9651+12G>A
|
rs143173603
|
0.00111
|
|
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)
|
rs35686213
|
0.00110
|
|
NM_001159699.2(FHL1):c.498C>T (p.Cys166=)
|
rs145445372
|
0.00107
|
|
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=)
|
rs149923357
|
0.00107
|
|
NM_182914.3(SYNE2):c.12108+10T>C
|
rs184130759
|
0.00106
|
|
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile)
|
rs4870093
|
0.00106
|
|
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His)
|
rs34963077
|
0.00106
|
|
NM_182961.4(SYNE1):c.21523-8T>G
|
rs187773880
|
0.00106
|
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00106
|
|
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)
|
rs146567178
|
0.00105
|
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
|
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu)
|
rs140359400
|
0.00104
|
|
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala)
|
rs192128801
|
0.00103
|
|
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg)
|
rs201036334
|
0.00103
|
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00103
|
|
NM_182914.3(SYNE2):c.1724A>G (p.Tyr575Cys)
|
rs181140390
|
0.00102
|
|
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)
|
rs138039375
|
0.00102
|
|
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)
|
rs148008634
|
0.00102
|
|
NM_001130965.3(SUN1):c.2148+20C>G
|
rs202040489
|
0.00101
|
|
NM_182914.3(SYNE2):c.15006C>T (p.Ser5002=)
|
rs143686889
|
0.00101
|
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
|
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)
|
rs144435836
|
0.00101
|
|
NM_182914.3(SYNE2):c.12346G>A (p.Glu4116Lys)
|
rs140028745
|
0.00100
|
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
|
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln)
|
rs144566713
|
0.00100
|
|
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)
|
rs138514054
|
0.00099
|
|
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val)
|
rs147947903
|
0.00099
|
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
|
NM_182914.3(SYNE2):c.12459C>T (p.Asp4153=)
|
rs143766835
|
0.00098
|
|
NM_182961.4(SYNE1):c.14281A>G (p.Arg4761Gly)
|
rs187910661
|
0.00098
|
|
NM_001130965.3(SUN1):c.78-3T>C
|
rs77466627
|
0.00096
|
|
NM_182914.3(SYNE2):c.16195G>A (p.Ala5399Thr)
|
rs140265039
|
0.00096
|
|
NM_182914.3(SYNE2):c.1873C>T (p.His625Tyr)
|
rs192061494
|
0.00096
|
|
NM_182914.3(SYNE2):c.3318G>A (p.Lys1106=)
|
rs374026048
|
0.00096
|
|
NM_182961.4(SYNE1):c.9507+19A>G
|
rs200381107
|
0.00096
|
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
|
NM_015374.3(SUN2):c.1858C>T (p.Arg620Cys)
|
rs141013997
|
0.00095
|
|
NM_182961.4(SYNE1):c.581+18G>A
|
rs111309750
|
0.00095
|
|
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp)
|
rs145227848
|
0.00094
|
|
NM_182914.3(SYNE2):c.1852C>G (p.Leu618Val)
|
rs199697908
|
0.00094
|
|
NM_182914.3(SYNE2):c.20383-13G>A
|
rs118059639
|
0.00094
|
|
NM_182914.3(SYNE2):c.9347A>G (p.Lys3116Arg)
|
rs138689053
|
0.00094
|
|
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)
|
rs149227847
|
0.00091
|
|
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr)
|
rs140897155
|
0.00091
|
|
NM_182914.3(SYNE2):c.7124T>C (p.Leu2375Pro)
|
rs111902869
|
0.00091
|
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00089
|
|
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His)
|
rs36215251
|
0.00089
|
|
NM_015374.3(SUN2):c.424+6C>T
|
rs199843484
|
0.00088
|
|
NM_182914.3(SYNE2):c.165C>T (p.Ser55=)
|
rs143451415
|
0.00088
|
|
NM_182914.3(SYNE2):c.4842C>T (p.Pro1614=)
|
rs148564084
|
0.00088
|
|
NM_182914.3(SYNE2):c.5451A>G (p.Gln1817=)
|
rs116369229
|
0.00088
|
|
NM_182914.3(SYNE2):c.6690C>T (p.His2230=)
|
rs138272705
|
0.00087
|
|
NM_015374.3(SUN2):c.286+18C>T
|
rs202130199
|
0.00086
|
|
NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile)
|
rs148582250
|
0.00086
|
|
NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg)
|
rs147640636
|
0.00086
|
|
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly)
|
rs149617373
|
0.00086
|
|
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)
|
rs149005052
|
0.00086
|
|
NM_182914.3(SYNE2):c.3767G>A (p.Arg1256His)
|
rs183356628
|
0.00084
|
|
NM_001130965.3(SUN1):c.2251G>A (p.Asp751Asn)
|
rs200503893
|
0.00083
|
|
NM_182914.3(SYNE2):c.16619C>G (p.Ala5540Gly)
|
rs146819341
|
0.00083
|
|
NM_182961.4(SYNE1):c.10145+16G>A
|
rs150983931
|
0.00083
|
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
|
NM_000257.4(MYH7):c.1395C>T (p.Phe465=)
|
rs45508293
|
0.00082
|
|
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)
|
rs149296737
|
0.00082
|
|
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=)
|
rs139078338
|
0.00082
|
|
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)
|
rs138407813
|
0.00082
|
|
NM_182914.3(SYNE2):c.14920T>G (p.Ser4974Ala)
|
rs142514437
|
0.00081
|
|
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=)
|
rs114858512
|
0.00081
|
|
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=)
|
rs138528119
|
0.00081
|
|
NM_182914.3(SYNE2):c.3353+18A>G
|
rs184549776
|
0.00080
|
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
|
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro)
|
rs147870520
|
0.00080
|
|
NM_000117.3(EMD):c.466G>A (p.Gly156Ser)
|
rs144594695
|
0.00078
|
|
NM_182914.3(SYNE2):c.18723+17C>G
|
rs2275013
|
0.00078
|
|
NM_182961.4(SYNE1):c.8238G>A (p.Glu2746=)
|
rs139838755
|
0.00078
|
|
NM_000117.3(EMD):c.396C>T (p.His132=)
|
rs145985318
|
0.00077
|
|
NM_170707.4(LMNA):c.1489-16C>G
|
rs201379016
|
0.00076
|
|
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala)
|
rs146977539
|
0.00076
|
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
|
NM_001130965.3(SUN1):c.1525-17G>A
|
rs150769189
|
0.00074
|
|
NM_001130965.3(SUN1):c.2143G>A (p.Val715Ile)
|
rs200907784
|
0.00074
|
|
NM_001159699.2(FHL1):c.786C>T (p.His262=)
|
rs141231353
|
0.00074
|
|
NM_182914.3(SYNE2):c.17033C>T (p.Thr5678Met)
|
rs147365925
|
0.00073
|
|
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=)
|
rs3734366
|
0.00073
|
|
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)
|
rs113962905
|
0.00073
|
|
NM_182914.3(SYNE2):c.10697+16A>C
|
rs182397773
|
0.00072
|
|
NM_182914.3(SYNE2):c.889-16T>C
|
rs373852012
|
0.00072
|
|
NM_015374.3(SUN2):c.614+7G>A
|
rs202214602
|
0.00071
|
|
NM_182961.4(SYNE1):c.4008+19G>A
|
rs202076757
|
0.00071
|
|
NM_182961.4(SYNE1):c.7647C>T (p.His2549=)
|
rs113163375
|
0.00071
|
|
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp)
|
rs142169651
|
0.00070
|
|
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)
|
rs111367233
|
0.00070
|
|
NM_001130965.3(SUN1):c.235A>G (p.Ser79Gly)
|
rs199999269
|
0.00068
|
|
NM_015374.3(SUN2):c.276C>T (p.Asp92=)
|
rs111670814
|
0.00068
|
|
NM_182914.3(SYNE2):c.5637+12A>G
|
rs150233714
|
0.00068
|
|
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)
|
rs145401144
|
0.00068
|
|
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly)
|
rs142690727
|
0.00068
|
|
NM_001159699.2(FHL1):c.114G>A (p.Lys38=)
|
rs140149764
|
0.00067
|
|
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp)
|
rs149215868
|
0.00067
|
|
NM_182961.4(SYNE1):c.*95C>T
|
rs139397787
|
0.00066
|
|
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=)
|
rs201799566
|
0.00066
|
|
NM_182914.3(SYNE2):c.12636C>G (p.Asp4212Glu)
|
rs752924139
|
0.00065
|
|
NM_182914.3(SYNE2):c.16088A>G (p.His5363Arg)
|
rs150677837
|
0.00065
|
|
NM_182914.3(SYNE2):c.20191-13T>C
|
rs376369806
|
0.00065
|
|
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=)
|
rs144465613
|
0.00064
|
|
NM_182914.3(SYNE2):c.14681G>A (p.Arg4894Gln)
|
rs116823334
|
0.00064
|
|
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His)
|
rs200437377
|
0.00064
|
|
NM_182914.3(SYNE2):c.3990G>A (p.Ala1330=)
|
rs374980509
|
0.00064
|
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
|
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=)
|
rs138294643
|
0.00063
|
|
NM_015374.3(SUN2):c.28C>T (p.Arg10Cys)
|
rs139611023
|
0.00063
|
|
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=)
|
rs141057568
|
0.00063
|
|
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=)
|
rs144904215
|
0.00061
|
|
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys)
|
rs139466191
|
0.00061
|
|
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp)
|
rs144056525
|
0.00061
|
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
|
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg)
|
rs146244669
|
0.00060
|
|
NM_182961.4(SYNE1):c.5421+9G>T
|
rs376218204
|
0.00060
|
|
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)
|
rs150905950
|
0.00059
|
|
NM_015374.3(SUN2):c.1663+10C>G
|
rs372134058
|
0.00058
|
|
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=)
|
rs201000414
|
0.00058
|
|
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg)
|
rs141397112
|
0.00058
|
|
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)
|
rs143093185
|
0.00058
|
|
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)
|
rs112744561
|
0.00058
|
|
NM_182914.3(SYNE2):c.6345C>G (p.Thr2115=)
|
rs373613471
|
0.00057
|
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00057
|
|
NM_001130965.3(SUN1):c.1264-6C>A
|
rs201254301
|
0.00056
|
|
NM_182914.3(SYNE2):c.280A>G (p.Ile94Val)
|
rs146748294
|
0.00056
|
|
NM_182914.3(SYNE2):c.8003T>G (p.Leu2668Trp)
|
rs143558316
|
0.00056
|
|
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)
|
rs144105769
|
0.00056
|
|
NM_182961.4(SYNE1):c.3669+10T>C
|
rs187598275
|
0.00056
|
|
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)
|
rs139070088
|
0.00056
|
|
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=)
|
rs373646325
|
0.00055
|
|
NM_182914.3(SYNE2):c.15822A>T (p.Ser5274=)
|
rs184241655
|
0.00055
|
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00055
|
|
NM_182961.4(SYNE1):c.26001+8A>C
|
rs145939118
|
0.00055
|
|
NM_015374.3(SUN2):c.1647C>T (p.Tyr549=)
|
rs140661422
|
0.00054
|
|
NM_182914.3(SYNE2):c.15218A>G (p.Asn5073Ser)
|
rs142274277
|
0.00054
|
|
NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly)
|
rs138797058
|
0.00054
|
|
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
|
rs139170018
|
0.00054
|
|
NM_182961.4(SYNE1):c.1730-7G>A
|
rs367603152
|
0.00054
|
|
NM_182961.4(SYNE1):c.3395+17C>T
|
rs183904423
|
0.00054
|
|
NM_015374.3(SUN2):c.1043G>A (p.Arg348His)
|
rs142901119
|
0.00053
|
|
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=)
|
rs75817012
|
0.00053
|
|
NM_182961.4(SYNE1):c.9651+20G>A
|
rs200951972
|
0.00053
|
|
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His)
|
rs146801942
|
0.00052
|
|
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)
|
rs140005424
|
0.00052
|
|
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)
|
rs147508177
|
0.00052
|
|
NM_001130965.3(SUN1):c.1995C>T (p.Pro665=)
|
rs369315584
|
0.00051
|
|
NM_001130965.3(SUN1):c.257G>C (p.Arg86Pro)
|
rs375668872
|
0.00051
|
|
NM_015374.3(SUN2):c.1542G>A (p.Thr514=)
|
rs144975270
|
0.00051
|
|
NM_170707.4(LMNA):c.-128T>C
|
rs80356803
|
0.00051
|
|
NM_182914.3(SYNE2):c.14844-8C>G
|
rs375500620
|
0.00051
|
|
NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr)
|
rs145036293
|
0.00051
|
|
NM_182914.3(SYNE2):c.20536C>T (p.Pro6846Ser)
|
rs147848144
|
0.00051
|
|
NM_182914.3(SYNE2):c.3773A>G (p.Tyr1258Cys)
|
rs370541277
|
0.00051
|
|
NM_182914.3(SYNE2):c.6096C>T (p.Ile2032=)
|
rs374097374
|
0.00051
|
|
NM_182914.3(SYNE2):c.8567T>G (p.Leu2856Arg)
|
rs73277593
|
0.00051
|
|
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln)
|
rs182683822
|
0.00051
|
|
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)
|
rs142985368
|
0.00051
|
|
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly)
|
rs138481762
|
0.00051
|
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00050
|
|
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly)
|
rs201366911
|
0.00050
|
|
NM_182961.4(SYNE1):c.*191A>G
|
rs567194577
|
0.00049
|
|
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln)
|
rs141550859
|
0.00049
|
|
NM_182961.4(SYNE1):c.4461+15C>T
|
rs757969745
|
0.00049
|
|
NM_001130965.3(SUN1):c.1732G>T (p.Val578Leu)
|
rs201804636
|
0.00048
|
|
NM_001130965.3(SUN1):c.728C>T (p.Ser243Leu)
|
rs372849423
|
0.00048
|
|
NM_015374.3(SUN2):c.1146+7G>A
|
rs369532029
|
0.00048
|
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
|
NM_182914.3(SYNE2):c.521A>G (p.Lys174Arg)
|
rs139238702
|
0.00048
|
|
NM_001130965.3(SUN1):c.179C>T (p.Thr60Met)
|
rs112200342
|
0.00047
|
|
NM_001130965.3(SUN1):c.1861G>A (p.Gly621Ser)
|
rs145337558
|
0.00046
|
|
NM_182914.3(SYNE2):c.15021C>T (p.Ala5007=)
|
rs148113884
|
0.00046
|
|
NM_182914.3(SYNE2):c.20061+4C>T
|
rs373128678
|
0.00046
|
|
NM_182914.3(SYNE2):c.20632T>G (p.Ser6878Ala)
|
rs562773114
|
0.00046
|
|
NM_182914.3(SYNE2):c.6071C>T (p.Thr2024Ile)
|
rs201401811
|
0.00046
|
|
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile)
|
rs141141950
|
0.00046
|
|
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)
|
rs145075161
|
0.00046
|
|
NM_182961.4(SYNE1):c.7713-12C>T
|
rs550804556
|
0.00046
|
|
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg)
|
rs146668256
|
0.00046
|
|
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr)
|
rs139643725
|
0.00045
|
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
|
NM_182914.3(SYNE2):c.14385A>T (p.Ala4795=)
|
rs147001272
|
0.00044
|
|
NM_182914.3(SYNE2):c.6366G>A (p.Gln2122=)
|
rs114297937
|
0.00044
|
|
NM_182914.3(SYNE2):c.1356A>C (p.Glu452Asp)
|
rs199748407
|
0.00043
|
|
NM_182914.3(SYNE2):c.4994C>T (p.Ala1665Val)
|
rs200143024
|
0.00043
|
|
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln)
|
rs199561218
|
0.00043
|
|
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)
|
rs143639400
|
0.00043
|
|
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser)
|
rs201176149
|
0.00042
|
|
NM_182914.3(SYNE2):c.12987C>T (p.Val4329=)
|
rs139436206
|
0.00042
|
|
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr)
|
rs141488398
|
0.00042
|
|
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile)
|
rs150550013
|
0.00042
|
|
NM_015374.3(SUN2):c.166G>C (p.Ala56Pro)
|
rs137966643
|
0.00041
|
|
NM_015374.3(SUN2):c.2057C>T (p.Thr686Met)
|
rs150292176
|
0.00041
|
|
NM_182914.3(SYNE2):c.18723+8C>T
|
rs200853043
|
0.00041
|
|
NM_182914.3(SYNE2):c.2402A>G (p.Gln801Arg)
|
rs200848069
|
0.00041
|
|
NM_182914.3(SYNE2):c.9231G>A (p.Pro3077=)
|
rs199659722
|
0.00041
|
|
NM_182961.4(SYNE1):c.10146-19C>G
|
rs372218555
|
0.00041
|
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
|
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp)
|
rs142117628
|
0.00041
|
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
|
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)
|
rs141214076
|
0.00041
|
|
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln)
|
rs141883764
|
0.00040
|
|
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)
|
rs139480065
|
0.00040
|
|
NM_001130965.3(SUN1):c.733C>G (p.Leu245Val)
|
rs377094306
|
0.00039
|
|
NM_182961.4(SYNE1):c.12411C>T (p.His4137=)
|
rs751325537
|
0.00039
|
|
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)
|
rs111511993
|
0.00039
|
|
NM_182961.4(SYNE1):c.181G>A (p.Val61Ile)
|
rs151156420
|
0.00039
|
|
NM_182961.4(SYNE1):c.19692+3G>A
|
rs150304757
|
0.00039
|
|
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg)
|
rs117184249
|
0.00039
|
|
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=)
|
rs79449810
|
0.00039
|
|
NM_000257.4(MYH7):c.3690C>T (p.Asp1230=)
|
rs370750044
|
0.00038
|
|
NM_015374.3(SUN2):c.686-12C>T
|
rs372413342
|
0.00038
|
|
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val)
|
rs199743242
|
0.00038
|
|
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys)
|
rs139139296
|
0.00038
|
|
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)
|
rs141202420
|
0.00038
|
|
NM_182961.4(SYNE1):c.9807+14C>G
|
rs182453040
|
0.00038
|
|
NM_001159699.2(FHL1):c.225C>A (p.Arg75=)
|
rs143791173
|
0.00037
|
|
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser)
|
rs200319405
|
0.00037
|
|
NM_000257.4(MYH7):c.2349C>T (p.Arg783=)
|
rs139882431
|
0.00036
|
|
NM_024334.3(TMEM43):c.777C>T (p.His259=)
|
rs143958148
|
0.00036
|
|
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu)
|
rs140277551
|
0.00036
|
|
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)
|
rs149354607
|
0.00036
|
|
NM_182914.3(SYNE2):c.16419C>T (p.His5473=)
|
rs138209076
|
0.00036
|
|
NM_182914.3(SYNE2):c.169C>T (p.Leu57=)
|
rs370692798
|
0.00036
|
|
NM_182914.3(SYNE2):c.20583G>A (p.Leu6861=)
|
rs146695165
|
0.00036
|
|
NM_182914.3(SYNE2):c.2936A>G (p.His979Arg)
|
rs546054742
|
0.00036
|
|
NM_182961.4(SYNE1):c.15657+5T>A
|
rs199779021
|
0.00036
|
|
NM_182961.4(SYNE1):c.18973-18G>T
|
rs146316647
|
0.00036
|
|
NM_182961.4(SYNE1):c.309+14A>G
|
rs368595280
|
0.00036
|
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
|
NM_015374.3(SUN2):c.975C>T (p.His325=)
|
rs201767351
|
0.00035
|
|
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=)
|
rs148731167
|
0.00035
|
|
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=)
|
rs148556501
|
0.00035
|
|
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His)
|
rs143049227
|
0.00035
|
|
NM_182961.4(SYNE1):c.8537T>C (p.Leu2846Ser)
|
rs148242740
|
0.00035
|
|
NM_015374.3(SUN2):c.432G>A (p.Ser144=)
|
rs140094524
|
0.00034
|
|
NM_182914.3(SYNE2):c.*315C>T
|
rs183982306
|
0.00034
|
|
NM_182914.3(SYNE2):c.276C>T (p.Ile92=)
|
rs575263745
|
0.00034
|
|
NM_182914.3(SYNE2):c.8964C>T (p.Leu2988=)
|
rs374107455
|
0.00034
|
|
NM_182961.4(SYNE1):c.*433A>G
|
rs886061189
|
0.00034
|
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
|
NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys)
|
rs142258643
|
0.00034
|
|
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)
|
rs144206837
|
0.00034
|
|
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser)
|
rs199769508
|
0.00034
|
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
|
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val)
|
rs189676187
|
0.00032
|
|
NM_182914.3(SYNE2):c.5534A>G (p.Lys1845Arg)
|
rs76634907
|
0.00032
|
|
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)
|
rs147143947
|
0.00032
|
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
|
NM_001130965.3(SUN1):c.335C>T (p.Thr112Met)
|
rs183872262
|
0.00031
|
|
NM_182914.3(SYNE2):c.13570G>A (p.Glu4524Lys)
|
rs143646847
|
0.00031
|
|
NM_182914.3(SYNE2):c.19861-13C>G
|
rs369096632
|
0.00031
|
|
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)
|
rs143578863
|
0.00031
|
|
NM_182961.4(SYNE1):c.-49C>T
|
rs373654060
|
0.00031
|
|
NM_182961.4(SYNE1):c.12609G>A (p.Glu4203=)
|
rs186937478
|
0.00031
|
|
NM_182961.4(SYNE1):c.12953C>T (p.Thr4318Met)
|
rs200825287
|
0.00031
|
|
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=)
|
rs367864272
|
0.00031
|
|
NM_182961.4(SYNE1):c.4189G>A (p.Glu1397Lys)
|
rs149918889
|
0.00031
|
|
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly)
|
rs144643941
|
0.00031
|
|
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=)
|
rs144420313
|
0.00030
|
|
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp)
|
rs150911744
|
0.00030
|
|
NM_182914.3(SYNE2):c.11047T>A (p.Ser3683Thr)
|
rs199977941
|
0.00030
|
|
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)
|
rs142206385
|
0.00030
|
|
NM_182914.3(SYNE2):c.20497G>A (p.Glu6833Lys)
|
rs58154675
|
0.00030
|
|
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=)
|
rs150121030
|
0.00030
|
|
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln)
|
rs61742716
|
0.00030
|
|
NM_182961.4(SYNE1):c.6920C>T (p.Thr2307Ile)
|
rs141049001
|
0.00030
|
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
|
NM_182914.3(SYNE2):c.11164-4C>T
|
rs370961691
|
0.00029
|
|
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His)
|
rs75665958
|
0.00029
|
|
NM_182914.3(SYNE2):c.12307-5T>C
|
rs374468002
|
0.00029
|
|
NM_182914.3(SYNE2):c.17158A>G (p.Ser5720Gly)
|
rs151044620
|
0.00029
|
|
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr)
|
rs149128439
|
0.00029
|
|
NM_182914.3(SYNE2):c.3641T>A (p.Met1214Lys)
|
rs201166748
|
0.00029
|
|
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=)
|
rs117423703
|
0.00029
|
|
NM_182914.3(SYNE2):c.7467G>C (p.Leu2489Phe)
|
rs143031135
|
0.00029
|
|
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln)
|
rs138277154
|
0.00029
|
|
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)
|
rs138173087
|
0.00029
|
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
|
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe)
|
rs139600654
|
0.00029
|
|
NM_182961.4(SYNE1):c.24660C>T (p.His8220=)
|
rs150811468
|
0.00029
|
|
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp)
|
rs147841761
|
0.00029
|
|
NM_182961.4(SYNE1):c.7122G>A (p.Glu2374=)
|
rs141883657
|
0.00029
|
|
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala)
|
rs375079396
|
0.00029
|
|
NM_182914.3(SYNE2):c.15132T>A (p.Leu5044=)
|
rs201429908
|
0.00028
|
|
NM_182914.3(SYNE2):c.590+12G>T
|
rs369874545
|
0.00028
|
|
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu)
|
rs141996707
|
0.00028
|
|
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)
|
rs200836164
|
0.00027
|
|
NM_182914.3(SYNE2):c.20424G>A (p.Ser6808=)
|
rs187841473
|
0.00027
|
|
NM_182914.3(SYNE2):c.4738G>T (p.Val1580Phe)
|
rs190340029
|
0.00027
|
|
NM_182961.4(SYNE1):c.12023C>A (p.Ala4008Asp)
|
rs137985190
|
0.00027
|
|
NM_182961.4(SYNE1):c.12529-12G>A
|
rs367782368
|
0.00027
|
|
NM_182961.4(SYNE1):c.3396-17T>A
|
rs144838502
|
0.00027
|
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
|
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=)
|
rs188913729
|
0.00027
|
|
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)
|
rs147920229
|
0.00026
|
|
NM_015374.3(SUN2):c.657G>A (p.Pro219=)
|
rs143617240
|
0.00026
|
|
NM_182914.3(SYNE2):c.10218G>T (p.Leu3406Phe)
|
rs201421128
|
0.00026
|
|
NM_182914.3(SYNE2):c.15180G>A (p.Pro5060=)
|
rs139006816
|
0.00026
|
|
NM_182914.3(SYNE2):c.18603G>A (p.Arg6201=)
|
rs141051652
|
0.00026
|
|
NM_182914.3(SYNE2):c.1962G>A (p.Leu654=)
|
rs183609756
|
0.00026
|
|
NM_182914.3(SYNE2):c.3639-6A>G
|
rs369878032
|
0.00026
|
|
NM_182914.3(SYNE2):c.6714+6G>T
|
rs191541575
|
0.00026
|
|
NM_182914.3(SYNE2):c.990+10A>G
|
rs145924910
|
0.00026
|
|
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=)
|
rs140118684
|
0.00026
|
|
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=)
|
rs151034170
|
0.00026
|
|
NM_182961.4(SYNE1):c.9027G>A (p.Leu3009=)
|
rs148486281
|
0.00026
|
|
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His)
|
rs146769373
|
0.00026
|
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
|
NM_182914.3(SYNE2):c.11023-5C>G
|
rs112833938
|
0.00025
|
|
NM_182914.3(SYNE2):c.12121C>T (p.Arg4041Cys)
|
rs146197259
|
0.00025
|
|
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val)
|
rs147173048
|
0.00025
|
|
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe)
|
rs140135976
|
0.00025
|
|
NM_182961.4(SYNE1):c.23791-13C>T
|
rs371245873
|
0.00025
|
|
NM_182961.4(SYNE1):c.866G>C (p.Ser289Thr)
|
rs139190745
|
0.00025
|
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
|
NM_001130965.3(SUN1):c.543C>T (p.Asn181=)
|
rs372377655
|
0.00024
|
|
NM_015374.3(SUN2):c.615-10C>T
|
rs375410049
|
0.00024
|
|
NM_182914.3(SYNE2):c.13065A>G (p.Gln4355=)
|
rs7147884
|
0.00024
|
|
NM_182914.3(SYNE2):c.14823T>C (p.Ala4941=)
|
rs552871021
|
0.00024
|
|
NM_182914.3(SYNE2):c.19313C>T (p.Pro6438Leu)
|
rs149508344
|
0.00024
|
|
NM_182914.3(SYNE2):c.9303A>G (p.Ile3101Met)
|
rs188992180
|
0.00024
|
|
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)
|
rs151081036
|
0.00024
|
|
NM_182961.4(SYNE1):c.12225+4G>A
|
rs770448083
|
0.00024
|
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
|
NM_182961.4(SYNE1):c.17867G>A (p.Arg5956His)
|
rs80265744
|
0.00024
|
|
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys)
|
rs142229551
|
0.00024
|
|
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His)
|
rs200135486
|
0.00024
|
|
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met)
|
rs143842011
|
0.00024
|
|
NM_182961.4(SYNE1):c.24977-1702G>A
|
rs767684285
|
0.00024
|
|
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg)
|
rs201664645
|
0.00024
|
|
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu)
|
rs144276162
|
0.00024
|
|
NM_182961.4(SYNE1):c.6382-3C>T
|
rs373663183
|
0.00024
|
|
NM_182961.4(SYNE1):c.8550C>T (p.His2850=)
|
rs140565986
|
0.00024
|
|
NM_001159702.3(FHL1):c.760C>T (p.Arg254Cys)
|
rs367592190
|
0.00023
|
|
NM_170707.4(LMNA):c.1698+83G>A
|
rs555844506
|
0.00023
|
|
NM_182914.3(SYNE2):c.10008A>C (p.Leu3336=)
|
rs370368366
|
0.00023
|
|
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys)
|
rs144702281
|
0.00023
|
|
NM_182914.3(SYNE2):c.14720C>T (p.Ala4907Val)
|
rs144804554
|
0.00023
|
|
NM_182914.3(SYNE2):c.9785A>G (p.Lys3262Arg)
|
rs374766665
|
0.00023
|
|
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu)
|
rs141275966
|
0.00023
|
|
NM_182961.4(SYNE1):c.24977-1705G>A
|
rs375931512
|
0.00023
|
|
NM_182961.4(SYNE1):c.2569-8C>T
|
rs376033376
|
0.00023
|
|
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp)
|
rs150702500
|
0.00023
|
|
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys)
|
rs139089832
|
0.00023
|
|
NM_182961.4(SYNE1):c.9807+5C>T
|
rs185350092
|
0.00023
|
|
NM_001159699.2(FHL1):c.737-9T>C
|
rs914754937
|
0.00022
|
|
NM_015374.3(SUN2):c.1533G>C (p.Leu511=)
|
rs528608235
|
0.00022
|
|
NM_182914.3(SYNE2):c.*720C>T
|
rs539694463
|
0.00022
|
|
NM_182914.3(SYNE2):c.12949C>T (p.Leu4317=)
|
rs372251754
|
0.00022
|
|
NM_182914.3(SYNE2):c.13417C>T (p.Pro4473Ser)
|
rs146894065
|
0.00022
|
|
NM_182914.3(SYNE2):c.14340+11C>T
|
rs374706268
|
0.00022
|
|
NM_182914.3(SYNE2):c.5193G>A (p.Gln1731=)
|
rs373231298
|
0.00022
|
|
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys)
|
rs376507352
|
0.00022
|
|
NM_182914.3(SYNE2):c.9241C>T (p.Arg3081Trp)
|
rs150085946
|
0.00022
|
|
NM_182961.4(SYNE1):c.1351-14A>T
|
rs767941331
|
0.00022
|
|
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=)
|
rs115535983
|
0.00022
|
|
NM_182961.4(SYNE1):c.26154-2590C>G
|
rs767099068
|
0.00022
|
|
NM_182961.4(SYNE1):c.6230+17C>T
|
rs200580133
|
0.00022
|
|
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly)
|
rs189734757
|
0.00022
|
|
NM_182961.4(SYNE1):c.8433C>T (p.Asp2811=)
|
rs375466040
|
0.00022
|
|
NM_000117.3(EMD):c.639T>C (p.Pro213=)
|
rs782196388
|
0.00021
|
|
NM_000257.4(MYH7):c.5656-9C>T
|
rs781212482
|
0.00021
|
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
|
NM_001130965.3(SUN1):c.2282G>A (p.Arg761Gln)
|
rs199515429
|
0.00021
|
|
NM_015374.3(SUN2):c.1591A>G (p.Ile531Val)
|
rs149140279
|
0.00021
|
|
NM_015374.3(SUN2):c.431C>T (p.Ser144Leu)
|
rs143710758
|
0.00021
|
|
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr)
|
rs139590716
|
0.00021
|
|
NM_182914.3(SYNE2):c.10815A>T (p.Ser3605=)
|
rs377396543
|
0.00021
|
|
NM_182914.3(SYNE2):c.12190G>A (p.Val4064Ile)
|
rs144164967
|
0.00021
|
|
NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=)
|
rs148708516
|
0.00021
|
|
NM_182914.3(SYNE2):c.16881C>T (p.Leu5627=)
|
rs149949857
|
0.00021
|
|
NM_182914.3(SYNE2):c.16894A>G (p.Lys5632Glu)
|
rs375876618
|
0.00021
|
|
NM_182914.3(SYNE2):c.19194C>T (p.Ala6398=)
|
rs144599409
|
0.00021
|
|
NM_182914.3(SYNE2):c.19823A>T (p.Asp6608Val)
|
rs372546949
|
0.00021
|
|
NM_182914.3(SYNE2):c.22C>T (p.Pro8Ser)
|
rs2275017
|
0.00021
|
|
NM_182914.3(SYNE2):c.5915C>T (p.Pro1972Leu)
|
rs113146258
|
0.00021
|
|
NM_182914.3(SYNE2):c.8632G>A (p.Glu2878Lys)
|
rs61744386
|
0.00021
|
|
NM_182961.4(SYNE1):c.*101C>T
|
rs571719631
|
0.00021
|
|
NM_182961.4(SYNE1):c.*186G>A
|
rs766338162
|
0.00021
|
|
NM_182961.4(SYNE1):c.11253+9G>A
|
rs368012172
|
0.00021
|
|
NM_182961.4(SYNE1):c.12006T>G (p.Leu4002=)
|
rs143529882
|
0.00021
|
|
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu)
|
rs139805184
|
0.00021
|
|
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)
|
rs144376043
|
0.00021
|
|
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala)
|
rs200701182
|
0.00021
|
|
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile)
|
rs150335599
|
0.00021
|
|
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=)
|
rs200880341
|
0.00021
|
|
NM_182961.4(SYNE1):c.3669+4C>G
|
rs376511242
|
0.00021
|
|
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
|
rs140780725
|
0.00021
|
|
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val)
|
rs139544072
|
0.00021
|
|
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile)
|
rs374862218
|
0.00021
|
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
|
NM_000257.4(MYH7):c.5283+19C>T
|
rs45582836
|
0.00020
|
|
NM_001130965.3(SUN1):c.13C>T (p.Arg5Trp)
|
rs149483651
|
0.00020
|
|
NM_182914.3(SYNE2):c.11793+12T>C
|
rs568556801
|
0.00020
|
|
NM_182914.3(SYNE2):c.12377G>C (p.Ser4126Thr)
|
rs113360430
|
0.00020
|
|
NM_182914.3(SYNE2):c.12738C>T (p.Ala4246=)
|
rs143927906
|
0.00020
|
|
NM_182914.3(SYNE2):c.13918-6T>C
|
rs187859624
|
0.00020
|
|
NM_182914.3(SYNE2):c.16312G>A (p.Asp5438Asn)
|
rs201134182
|
0.00020
|
|
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His)
|
rs538344879
|
0.00020
|
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
|
NM_182961.4(SYNE1):c.22346+6G>T
|
rs368678916
|
0.00020
|
|
NM_000117.3(EMD):c.445G>C (p.Asp149His)
|
rs2070818
|
0.00019
|
|
NM_001130965.3(SUN1):c.362C>G (p.Thr121Ser)
|
rs541487561
|
0.00019
|
|
NM_001130965.3(SUN1):c.451+13G>A
|
rs376973725
|
0.00019
|
|
NM_001130965.3(SUN1):c.496A>G (p.Ile166Val)
|
rs201949393
|
0.00019
|
|
NM_015374.3(SUN2):c.1139C>A (p.Ala380Asp)
|
rs143302352
|
0.00019
|
|
NM_015374.3(SUN2):c.1508C>T (p.Ser503Leu)
|
rs145490494
|
0.00019
|
|
NM_182914.3(SYNE2):c.12370G>T (p.Val4124Leu)
|
rs370255444
|
0.00019
|
|
NM_182914.3(SYNE2):c.15929T>C (p.Leu5310Ser)
|
rs199976741
|
0.00019
|
|
NM_182914.3(SYNE2):c.16875T>G (p.Pro5625=)
|
rs372506361
|
0.00019
|
|
NM_182914.3(SYNE2):c.19402+10C>G
|
rs759119344
|
0.00019
|
|
NM_182914.3(SYNE2):c.20509G>A (p.Glu6837Lys)
|
rs146398606
|
0.00019
|
|
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser)
|
rs372150492
|
0.00019
|
|
NM_182914.3(SYNE2):c.7410A>G (p.Ala2470=)
|
rs149447818
|
0.00019
|
|
NM_182914.3(SYNE2):c.8007C>A (p.Thr2669=)
|
rs368090941
|
0.00019
|
|
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe)
|
rs201466326
|
0.00019
|
|
NM_182961.4(SYNE1):c.10003A>G (p.Ile3335Val)
|
rs150814357
|
0.00019
|
|
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)
|
rs148522587
|
0.00019
|
|
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met)
|
rs143034104
|
0.00019
|
|
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)
|
rs199761238
|
0.00019
|
|
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=)
|
rs146705789
|
0.00019
|
|
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)
|
rs142251671
|
0.00019
|
|
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu)
|
rs140090745
|
0.00019
|
|
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met)
|
rs770171807
|
0.00019
|
|
NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr)
|
rs149744490
|
0.00019
|
|
NM_182961.4(SYNE1):c.24642+3A>G
|
rs117346210
|
0.00019
|
|
NM_182961.4(SYNE1):c.7030-16T>C
|
rs202040448
|
0.00019
|
|
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe)
|
rs370016934
|
0.00019
|
|
NM_182961.4(SYNE1):c.7238-11T>C
|
rs200802315
|
0.00019
|
|
NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=)
|
rs139079964
|
0.00019
|
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
|
NM_000257.4(MYH7):c.*105T>C
|
rs200550717
|
0.00018
|
|
NM_001159699.2(FHL1):c.652G>A (p.Ala218Thr)
|
rs752366165
|
0.00018
|
|
NM_182914.3(SYNE2):c.*807G>A
|
rs755864712
|
0.00018
|
|
NM_182914.3(SYNE2):c.10631G>T (p.Ser3544Ile)
|
rs200109813
|
0.00018
|
|
NM_182914.3(SYNE2):c.13377C>G (p.Leu4459=)
|
rs141379692
|
0.00018
|
|
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr)
|
rs148492034
|
0.00018
|
|
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln)
|
rs141882853
|
0.00018
|
|
NM_182914.3(SYNE2):c.2425A>G (p.Thr809Ala)
|
rs374684922
|
0.00018
|
|
NM_182914.3(SYNE2):c.5100G>A (p.Val1700=)
|
rs376691167
|
0.00018
|
|
NM_182914.3(SYNE2):c.9843C>A (p.Pro3281=)
|
rs373355920
|
0.00018
|
|
NM_182961.4(SYNE1):c.1186C>G (p.Leu396Val)
|
rs138350962
|
0.00018
|
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00018
|
|
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=)
|
rs2296253
|
0.00018
|
|
NM_182961.4(SYNE1):c.24150C>T (p.His8050=)
|
rs140259310
|
0.00018
|
|
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln)
|
rs201029723
|
0.00018
|
|
NM_182961.4(SYNE1):c.5713A>G (p.Ile1905Val)
|
rs143467834
|
0.00018
|
|
NM_001130965.3(SUN1):c.1216G>A (p.Gly406Arg)
|
rs201437034
|
0.00017
|
|
NM_001130965.3(SUN1):c.535G>A (p.Ala179Thr)
|
rs200430189
|
0.00017
|
|
NM_001130965.3(SUN1):c.695C>T (p.Ala232Val)
|
rs181988140
|
0.00017
|
|
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile)
|
rs139402062
|
0.00017
|
|
NM_015374.3(SUN2):c.1191-4C>T
|
rs754222779
|
0.00017
|
|
NM_015374.3(SUN2):c.26C>T (p.Thr9Met)
|
rs149995796
|
0.00017
|
|
NM_015374.3(SUN2):c.461G>A (p.Arg154Gln)
|
rs143392390
|
0.00017
|
|
NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr)
|
rs138644399
|
0.00017
|
|
NM_182914.3(SYNE2):c.14139+5G>A
|
rs374778697
|
0.00017
|
|
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His)
|
rs150629598
|
0.00017
|
|
NM_182914.3(SYNE2):c.19161G>A (p.Pro6387=)
|
rs780548007
|
0.00017
|
|
NM_182914.3(SYNE2):c.19417G>C (p.Asp6473His)
|
rs140940287
|
0.00017
|
|
NM_182914.3(SYNE2):c.5242G>A (p.Ala1748Thr)
|
rs768694081
|
0.00017
|
|
NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=)
|
rs377739292
|
0.00017
|
|
NM_182961.4(SYNE1):c.1463+9A>G
|
rs368846118
|
0.00017
|
|
NM_182961.4(SYNE1):c.16084-14G>A
|
rs372051077
|
0.00017
|
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
|
NM_182961.4(SYNE1):c.17020-20C>T
|
rs558291255
|
0.00017
|
|
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr)
|
rs201497427
|
0.00017
|
|
NM_182961.4(SYNE1):c.582-9A>G
|
rs200412221
|
0.00017
|
|
NM_182961.4(SYNE1):c.7713-4T>C
|
rs571742202
|
0.00017
|
|
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
|
rs45523233
|
0.00016
|
|
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)
|
rs377088951
|
0.00016
|
|
NM_015374.3(SUN2):c.1190+10G>A
|
rs367607098
|
0.00016
|
|
NM_015374.3(SUN2):c.1258G>A (p.Gly420Ser)
|
rs376340507
|
0.00016
|
|
NM_015374.3(SUN2):c.1671C>T (p.Ser557=)
|
rs150014549
|
0.00016
|
|
NM_015374.3(SUN2):c.1716C>T (p.Ala572=)
|
rs369397415
|
0.00016
|
|
NM_015374.3(SUN2):c.425-11G>A
|
rs774550032
|
0.00016
|
|
NM_015374.3(SUN2):c.615-11G>A
|
rs368890492
|
0.00016
|
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
|
NM_182914.3(SYNE2):c.11061A>G (p.Ala3687=)
|
rs769752720
|
0.00016
|
|
NM_182914.3(SYNE2):c.15165A>G (p.Gln5055=)
|
rs145021738
|
0.00016
|
|
NM_182914.3(SYNE2):c.3267T>G (p.Phe1089Leu)
|
rs201858632
|
0.00016
|
|
NM_182914.3(SYNE2):c.6470T>C (p.Met2157Thr)
|
rs377480048
|
0.00016
|
|
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met)
|
rs373690979
|
0.00016
|
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
|
NM_182961.4(SYNE1):c.12351+4A>C
|
rs375086691
|
0.00016
|
|
NM_182961.4(SYNE1):c.16687C>T (p.Arg5563Trp)
|
rs375097544
|
0.00016
|
|
NM_182961.4(SYNE1):c.19696A>G (p.Met6566Val)
|
rs541395341
|
0.00016
|
|
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys)
|
rs536892317
|
0.00016
|
|
NM_182961.4(SYNE1):c.24861C>T (p.His8287=)
|
rs202207154
|
0.00016
|
|
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)
|
rs139679692
|
0.00016
|
|
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His)
|
rs558046278
|
0.00016
|
|
NM_182961.4(SYNE1):c.4261A>G (p.Lys1421Glu)
|
rs369236839
|
0.00016
|
|
NM_182961.4(SYNE1):c.4636A>G (p.Thr1546Ala)
|
rs146965313
|
0.00016
|
|
NM_182961.4(SYNE1):c.5724C>T (p.Asp1908=)
|
rs375222186
|
0.00016
|
|
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile)
|
rs377531174
|
0.00016
|
|
NM_182961.4(SYNE1):c.8737G>T (p.Ala2913Ser)
|
rs151300068
|
0.00016
|
|
NM_182961.4(SYNE1):c.9419C>T (p.Ala3140Val)
|
rs146402274
|
0.00016
|
|
NM_182961.4(SYNE1):c.9807+15G>A
|
rs371593819
|
0.00016
|
|
NM_001130965.3(SUN1):c.1531G>A (p.Val511Met)
|
rs369117433
|
0.00015
|
|
NM_001130965.3(SUN1):c.599C>T (p.Ala200Val)
|
rs368907584
|
0.00015
|
|
NM_015374.3(SUN2):c.2040+4C>T
|
rs372381106
|
0.00015
|
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
0.00015
|
|
NM_182914.3(SYNE2):c.13708-13C>T
|
rs146315545
|
0.00015
|
|
NM_182914.3(SYNE2):c.16640A>G (p.Asp5547Gly)
|
rs150415189
|
0.00015
|
|
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly)
|
rs139187222
|
0.00015
|
|
NM_182914.3(SYNE2):c.17423C>T (p.Thr5808Ile)
|
rs139361264
|
0.00015
|
|
NM_182914.3(SYNE2):c.18540+20C>T
|
rs373805773
|
0.00015
|
|
NM_182914.3(SYNE2):c.19635C>T (p.Ala6545=)
|
rs149510065
|
0.00015
|
|
NM_182914.3(SYNE2):c.20448C>T (p.Ser6816=)
|
rs546213944
|
0.00015
|
|
NM_182914.3(SYNE2):c.2473-13T>C
|
rs370070538
|
0.00015
|
|
NM_182914.3(SYNE2):c.2827G>T (p.Asp943Tyr)
|
rs543556397
|
0.00015
|
|
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val)
|
rs199860789
|
0.00015
|
|
NM_182914.3(SYNE2):c.4413C>A (p.Ile1471=)
|
rs377423642
|
0.00015
|
|
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala)
|
rs374946613
|
0.00015
|
|
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile)
|
rs199774691
|
0.00015
|
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00015
|
|
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys)
|
rs201346604
|
0.00015
|
|
NM_182961.4(SYNE1):c.19573-12G>C
|
rs200455883
|
0.00015
|
|
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr)
|
rs140962690
|
0.00015
|
|
NM_182961.4(SYNE1):c.25120-6A>G
|
rs201898019
|
0.00015
|
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
|
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)
|
rs185829704
|
0.00015
|
|
NM_182961.4(SYNE1):c.9927G>A (p.Pro3309=)
|
rs140830584
|
0.00015
|
|
NM_000117.3(EMD):c.432A>G (p.Glu144=)
|
rs377125466
|
0.00014
|
|
NM_000117.3(EMD):c.537G>A (p.Leu179=)
|
rs368661339
|
0.00014
|
|
NM_000257.4(MYH7):c.4170-8C>A
|
rs199632504
|
0.00014
|
|
NM_001130965.3(SUN1):c.1754C>T (p.Ala585Val)
|
rs377135952
|
0.00014
|
|
NM_015374.3(SUN2):c.172C>A (p.Gln58Lys)
|
rs375796599
|
0.00014
|
|
NM_015374.3(SUN2):c.2034C>T (p.His678=)
|
rs539775471
|
0.00014
|
|
NM_015374.3(SUN2):c.287-16G>A
|
rs749337613
|
0.00014
|
|
NM_182914.3(SYNE2):c.*59G>A
|
rs776787883
|
0.00014
|
|
NM_182914.3(SYNE2):c.10553G>C (p.Gly3518Ala)
|
rs768444096
|
0.00014
|
|
NM_182914.3(SYNE2):c.10988A>C (p.Glu3663Ala)
|
rs369298370
|
0.00014
|
|
NM_182914.3(SYNE2):c.12302G>A (p.Arg4101Gln)
|
rs372624638
|
0.00014
|
|
NM_182914.3(SYNE2):c.13707+17G>A
|
rs190625160
|
0.00014
|
|
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met)
|
rs568071525
|
0.00014
|
|
NM_182914.3(SYNE2):c.14976+10A>G
|
rs367888426
|
0.00014
|
|
NM_182914.3(SYNE2):c.18304G>A (p.Glu6102Lys)
|
rs560736067
|
0.00014
|
|
NM_182914.3(SYNE2):c.19867C>T (p.Leu6623=)
|
rs139826953
|
0.00014
|
|
NM_182914.3(SYNE2):c.2013G>A (p.Leu671=)
|
rs371320284
|
0.00014
|
|
NM_182914.3(SYNE2):c.20286T>C (p.Cys6762=)
|
rs77065534
|
0.00014
|
|
NM_182914.3(SYNE2):c.20383-9G>A
|
rs373857906
|
0.00014
|
|
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser)
|
rs373880647
|
0.00014
|
|
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu)
|
rs200909650
|
0.00014
|
|
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys)
|
rs774710219
|
0.00014
|
|
NM_182961.4(SYNE1):c.12393C>A (p.Gly4131=)
|
rs375707429
|
0.00014
|
|
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=)
|
rs138650597
|
0.00014
|
|
NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr)
|
rs374301933
|
0.00014
|
|
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys)
|
rs35484093
|
0.00014
|
|
NM_182961.4(SYNE1):c.15535G>T (p.Ala5179Ser)
|
rs375686353
|
0.00014
|
|
NM_182961.4(SYNE1):c.1622A>G (p.Gln541Arg)
|
rs532911105
|
0.00014
|
|
NM_182961.4(SYNE1):c.16573-3C>T
|
rs376927135
|
0.00014
|
|
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)
|
rs370053768
|
0.00014
|
|
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser)
|
rs145518327
|
0.00014
|
|
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)
|
rs146320179
|
0.00014
|
|
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys)
|
rs34974663
|
0.00014
|
|
NM_182961.4(SYNE1):c.3498C>T (p.Ala1166=)
|
rs144235226
|
0.00014
|
|
NM_182961.4(SYNE1):c.4824G>A (p.Ala1608=)
|
rs369587906
|
0.00014
|
|
NM_182961.4(SYNE1):c.6009A>C (p.Lys2003Asn)
|
rs772627014
|
0.00014
|
|
NM_182961.4(SYNE1):c.7029+15A>G
|
rs757201043
|
0.00014
|
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00014
|
|
NM_000257.4(MYH7):c.2526T>C (p.Ser842=)
|
rs554560162
|
0.00013
|
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
|
NM_000257.4(MYH7):c.3726+6C>T
|
rs377745688
|
0.00013
|
|
NM_001130965.3(SUN1):c.1398G>A (p.Ala466=)
|
rs752157539
|
0.00013
|
|
NM_001130965.3(SUN1):c.203G>A (p.Gly68Asp)
|
rs188935423
|
0.00013
|
|
NM_001130965.3(SUN1):c.289A>T (p.Thr97Ser)
|
rs536026654
|
0.00013
|
|
NM_015374.3(SUN2):c.425-9T>C
|
rs375405393
|
0.00013
|
|
NM_015374.3(SUN2):c.475G>A (p.Val159Ile)
|
rs201453554
|
0.00013
|
|
NM_015374.3(SUN2):c.635C>T (p.Thr212Met)
|
rs142155226
|
0.00013
|
|
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)
|
rs367910936
|
0.00013
|
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
|
NM_182914.3(SYNE2):c.-128A>T
|
rs886050576
|
0.00013
|
|
NM_182914.3(SYNE2):c.11549A>G (p.Asp3850Gly)
|
rs527339341
|
0.00013
|
|
NM_182914.3(SYNE2):c.15234A>G (p.Gln5078=)
|
rs139340468
|
0.00013
|
|
NM_182914.3(SYNE2):c.17000+20T>C
|
rs376879878
|
0.00013
|
|
NM_182914.3(SYNE2):c.17038C>T (p.Arg5680Trp)
|
rs143377752
|
0.00013
|
|
NM_182914.3(SYNE2):c.18622C>T (p.Arg6208Cys)
|
rs377305355
|
0.00013
|
|
NM_182914.3(SYNE2):c.20524G>C (p.Gly6842Arg)
|
rs201538331
|
0.00013
|
|
NM_182961.4(SYNE1):c.18816C>T (p.Gly6272=)
|
rs142296702
|
0.00013
|
|
NM_182961.4(SYNE1):c.19689C>A (p.Leu6563=)
|
rs372285648
|
0.00013
|
|
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=)
|
rs141263831
|
0.00013
|
|
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)
|
rs141170182
|
0.00013
|
|
NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=)
|
rs375826346
|
0.00013
|
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00013
|
|
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile)
|
rs376463379
|
0.00013
|
|
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp)
|
rs144797998
|
0.00013
|
|
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)
|
rs190867604
|
0.00013
|
|
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His)
|
rs139175290
|
0.00013
|
|
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)
|
rs749550071
|
0.00013
|
|
NM_000257.4(MYH7):c.240C>T (p.Asn80=)
|
rs200493975
|
0.00012
|
|
NM_001130965.3(SUN1):c.233G>A (p.Ser78Asn)
|
rs780522800
|
0.00012
|
|
NM_015374.3(SUN2):c.1314A>T (p.Glu438Asp)
|
rs200311518
|
0.00012
|
|
NM_015374.3(SUN2):c.396G>A (p.Ser132=)
|
rs374648086
|
0.00012
|
|
NM_015374.3(SUN2):c.521G>T (p.Gly174Val)
|
rs148232799
|
0.00012
|
|
NM_170707.4(LMNA):c.811-12C>T
|
rs372962650
|
0.00012
|
|
NM_182914.3(SYNE2):c.13883T>C (p.Leu4628Pro)
|
rs559503999
|
0.00012
|
|
NM_182914.3(SYNE2):c.14019+7A>C
|
rs193073523
|
0.00012
|
|
NM_182914.3(SYNE2):c.14518T>C (p.Trp4840Arg)
|
rs148323208
|
0.00012
|
|
NM_182914.3(SYNE2):c.14634T>A (p.Ile4878=)
|
rs779163537
|
0.00012
|
|
NM_182914.3(SYNE2):c.15179C>T (p.Pro5060Leu)
|
rs371146862
|
0.00012
|
|
NM_182914.3(SYNE2):c.15414G>A (p.Thr5138=)
|
rs368919032
|
0.00012
|
|
NM_182914.3(SYNE2):c.1706T>C (p.Met569Thr)
|
rs530677710
|
0.00012
|
|
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys)
|
rs201427580
|
0.00012
|
|
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu)
|
rs375497206
|
0.00012
|
|
NM_182914.3(SYNE2):c.20469+7A>G
|
rs370305948
|
0.00012
|
|
NM_182914.3(SYNE2):c.2190A>G (p.Thr730=)
|
rs374751877
|
0.00012
|
|
NM_182914.3(SYNE2):c.9149C>G (p.Ala3050Gly)
|
rs763273577
|
0.00012
|
|
NM_182961.4(SYNE1):c.-347C>A
|
rs570030870
|
0.00012
|
|
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)
|
rs180727534
|
0.00012
|
|
NM_182961.4(SYNE1):c.13628A>G (p.Tyr4543Cys)
|
rs138770612
|
0.00012
|
|
NM_182961.4(SYNE1):c.14055G>A (p.Gln4685=)
|
rs370890411
|
0.00012
|
|
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala)
|
rs773536890
|
0.00012
|
|
NM_182961.4(SYNE1):c.15816G>T (p.Arg5272=)
|
rs762050069
|
0.00012
|
|
NM_182961.4(SYNE1):c.1632+11C>T
|
rs371323621
|
0.00012
|
|
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr)
|
rs138509817
|
0.00012
|
|
NM_182961.4(SYNE1):c.17089C>T (p.Arg5697Trp)
|
rs150290283
|
0.00012
|
|
NM_182961.4(SYNE1):c.19692+20G>C
|
rs140078199
|
0.00012
|
|
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)
|
rs201908045
|
0.00012
|
|
NM_182961.4(SYNE1):c.21523-18G>T
|
rs191367384
|
0.00012
|
|
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=)
|
rs377113267
|
0.00012
|
|
NM_182961.4(SYNE1):c.4008+15T>C
|
rs368542446
|
0.00012
|
|
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu)
|
rs555536675
|
0.00012
|
|
NM_182961.4(SYNE1):c.8972C>T (p.Thr2991Met)
|
rs763526846
|
0.00012
|
|
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=)
|
rs200222988
|
0.00012
|
|
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)
|
rs374981936
|
0.00011
|
|
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)
|
rs372727092
|
0.00011
|
|
NM_000257.4(MYH7):c.5656-4G>A
|
rs397516250
|
0.00011
|
|
NM_001130965.3(SUN1):c.1230G>A (p.Ser410=)
|
rs377176751
|
0.00011
|
|
NM_001130965.3(SUN1):c.1513G>A (p.Val505Ile)
|
rs371879209
|
0.00011
|
|
NM_001130965.3(SUN1):c.1647G>A (p.Thr549=)
|
rs369056112
|
0.00011
|
|
NM_001130965.3(SUN1):c.1921A>G (p.Met641Val)
|
rs374040275
|
0.00011
|
|
NM_001130965.3(SUN1):c.319G>A (p.Val107Met)
|
rs376335038
|
0.00011
|
|
NM_001130965.3(SUN1):c.478+15C>T
|
rs199865981
|
0.00011
|
|
NM_001130965.3(SUN1):c.581G>A (p.Arg194His)
|
rs369326753
|
0.00011
|
|
NM_001130965.3(SUN1):c.992G>A (p.Arg331Gln)
|
rs374902623
|
0.00011
|
|
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn)
|
rs754308516
|
0.00011
|
|
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)
|
rs770649913
|
0.00011
|
|
NM_015374.3(SUN2):c.31T>C (p.Tyr11His)
|
rs771840984
|
0.00011
|
|
NM_015374.3(SUN2):c.520+8G>A
|
rs201387591
|
0.00011
|
|
NM_015374.3(SUN2):c.932G>A (p.Arg311Gln)
|
rs376072154
|
0.00011
|
|
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys)
|
rs754536393
|
0.00011
|
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
|
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp)
|
rs374926367
|
0.00011
|
|
NM_182914.3(SYNE2):c.*696A>G
|
rs184175256
|
0.00011
|
|
NM_182914.3(SYNE2):c.10561G>A (p.Val3521Met)
|
rs202224612
|
0.00011
|
|
NM_182914.3(SYNE2):c.11586A>G (p.Gln3862=)
|
rs761417555
|
0.00011
|
|
NM_182914.3(SYNE2):c.12056T>G (p.Phe4019Cys)
|
rs150105416
|
0.00011
|
|
NM_182914.3(SYNE2):c.13023+8A>G
|
rs372360775
|
0.00011
|
|
NM_182914.3(SYNE2):c.13281-4A>G
|
rs369446724
|
0.00011
|
|
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val)
|
rs201269146
|
0.00011
|
|
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met)
|
rs145018323
|
0.00011
|
|
NM_182914.3(SYNE2):c.15719C>T (p.Ala5240Val)
|
rs140863307
|
0.00011
|
|
NM_182914.3(SYNE2):c.16985C>T (p.Thr5662Ile)
|
rs201850995
|
0.00011
|
|
NM_182914.3(SYNE2):c.18001G>A (p.Asp6001Asn)
|
rs769737846
|
0.00011
|
|
NM_182914.3(SYNE2):c.19056+5G>A
|
rs774990082
|
0.00011
|
|
NM_182914.3(SYNE2):c.20462G>A (p.Arg6821Gln)
|
rs148791608
|
0.00011
|
|
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile)
|
rs773841153
|
0.00011
|
|
NM_182914.3(SYNE2):c.6772G>A (p.Val2258Ile)
|
rs200336916
|
0.00011
|
|
NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln)
|
rs202200597
|
0.00011
|
|
NM_182961.4(SYNE1):c.10105A>G (p.Met3369Val)
|
rs199668467
|
0.00011
|
|
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser)
|
rs148212715
|
0.00011
|
|
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met)
|
rs375577011
|
0.00011
|
|
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe)
|
rs199701902
|
0.00011
|
|
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=)
|
rs184264920
|
0.00011
|
|
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser)
|
rs201306174
|
0.00011
|
|
NM_182961.4(SYNE1):c.17203-6T>C
|
rs1589744380
|
0.00011
|
|
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)
|
rs967105970
|
0.00011
|
|
NM_182961.4(SYNE1):c.18584A>C (p.Gln6195Pro)
|
rs370472085
|
0.00011
|
|
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe)
|
rs141934037
|
0.00011
|
|
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu)
|
rs376891338
|
0.00011
|
|
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=)
|
rs142327194
|
0.00011
|
|
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)
|
rs142593312
|
0.00011
|
|
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg)
|
rs145882956
|
0.00011
|
|
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys)
|
rs371642308
|
0.00011
|
|
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile)
|
rs199670962
|
0.00011
|
|
NM_182961.4(SYNE1):c.25086G>A (p.Thr8362=)
|
rs377302991
|
0.00011
|
|
NM_182961.4(SYNE1):c.5850C>A (p.Ala1950=)
|
rs373129942
|
0.00011
|
|
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala)
|
rs199558070
|
0.00011
|
|
NM_182961.4(SYNE1):c.8005-3C>T
|
rs117084693
|
0.00011
|
|
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)
|
rs77853132
|
0.00011
|
|
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)
|
rs756300560
|
0.00011
|
|
NM_182961.4(SYNE1):c.9009+14C>T
|
rs370240234
|
0.00011
|
|
NM_182961.4(SYNE1):c.9696G>A (p.Arg3232=)
|
rs377001681
|
0.00011
|
|
NM_182961.4(SYNE1):c.9855C>T (p.Phe3285=)
|
rs776394371
|
0.00011
|
|
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn)
|
rs147281213
|
0.00011
|
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
|
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)
|
rs372731424
|
0.00010
|
|
NM_001130965.3(SUN1):c.1221G>A (p.Pro407=)
|
rs373057888
|
0.00010
|
|
NM_001130965.3(SUN1):c.227G>C (p.Gly76Ala)
|
rs149038179
|
0.00010
|
|
NM_001130965.3(SUN1):c.260C>T (p.Ala87Val)
|
rs371152290
|
0.00010
|
|
NM_001130965.3(SUN1):c.267-17T>G
|
rs527315917
|
0.00010
|
|
NM_001159699.2(FHL1):c.380-7T>C
|
rs759571993
|
0.00010
|
|
NM_001159699.2(FHL1):c.737-11_737-8del
|
rs754404850
|
0.00010
|
|
NM_015374.3(SUN2):c.1896C>T (p.Ala632=)
|
rs112637685
|
0.00010
|
|
NM_015374.3(SUN2):c.672G>A (p.Thr224=)
|
rs767229084
|
0.00010
|
|
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)
|
rs151010429
|
0.00010
|
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
|
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn)
|
rs145874555
|
0.00010
|
|
NM_182914.3(SYNE2):c.12381+6G>A
|
rs781486571
|
0.00010
|
|
NM_182914.3(SYNE2):c.1359T>C (p.Asn453=)
|
rs377273531
|
0.00010
|
|
NM_182914.3(SYNE2):c.14388C>T (p.Tyr4796=)
|
rs767447208
|
0.00010
|
|
NM_182914.3(SYNE2):c.14544A>G (p.Ala4848=)
|
rs150819349
|
0.00010
|
|
NM_182914.3(SYNE2):c.16410C>G (p.Gly5470=)
|
rs200393620
|
0.00010
|
|
NM_182914.3(SYNE2):c.16753C>T (p.Arg5585Cys)
|
rs370674900
|
0.00010
|
|
NM_182914.3(SYNE2):c.17209A>C (p.Thr5737Pro)
|
rs576835974
|
0.00010
|
|
NM_182914.3(SYNE2):c.17653A>T (p.Met5885Leu)
|
rs137866467
|
0.00010
|
|
NM_182914.3(SYNE2):c.18000C>A (p.Asn6000Lys)
|
rs150002885
|
0.00010
|
|
NM_182914.3(SYNE2):c.20240A>C (p.Gln6747Pro)
|
rs147470935
|
0.00010
|
|
NM_182914.3(SYNE2):c.3244-3T>C
|
rs764351817
|
0.00010
|
|
NM_182914.3(SYNE2):c.5020T>C (p.Leu1674=)
|
rs201666704
|
0.00010
|
|
NM_182914.3(SYNE2):c.6404+7G>C
|
rs369461571
|
0.00010
|
|
NM_182914.3(SYNE2):c.7144G>A (p.Ala2382Thr)
|
rs774232167
|
0.00010
|
|
NM_182914.3(SYNE2):c.7720T>A (p.Leu2574Ile)
|
rs759148677
|
0.00010
|
|
NM_182914.3(SYNE2):c.9745-9A>G
|
rs778028287
|
0.00010
|
|
NM_182961.4(SYNE1):c.-223-10T>C
|
rs564226533
|
0.00010
|
|
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala)
|
rs546645393
|
0.00010
|
|
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=)
|
rs201715967
|
0.00010
|
|
NM_182961.4(SYNE1):c.11088A>G (p.Gln3696=)
|
rs375949615
|
0.00010
|
|
NM_182961.4(SYNE1):c.11936G>A (p.Arg3979His)
|
rs142444474
|
0.00010
|
|
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=)
|
rs138307449
|
0.00010
|
|
NM_182961.4(SYNE1):c.14491G>C (p.Val4831Leu)
|
rs375977864
|
0.00010
|
|
NM_182961.4(SYNE1):c.14956-14T>C
|
rs368344443
|
0.00010
|
|
NM_182961.4(SYNE1):c.15894C>T (p.Thr5298=)
|
rs143416387
|
0.00010
|
|
NM_182961.4(SYNE1):c.17052G>A (p.Pro5684=)
|
rs148994723
|
0.00010
|
|
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=)
|
rs200002217
|
0.00010
|
|
NM_182961.4(SYNE1):c.1729+14C>T
|
rs76417048
|
0.00010
|
|
NM_182961.4(SYNE1):c.17531C>G (p.Ser5844Cys)
|
rs144244988
|
0.00010
|
|
NM_182961.4(SYNE1):c.19351C>G (p.Arg6451Gly)
|
rs755740366
|
0.00010
|
|
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser)
|
rs149272010
|
0.00010
|
|
NM_182961.4(SYNE1):c.20068-15A>C
|
rs368904376
|
0.00010
|
|
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys)
|
rs757688642
|
0.00010
|
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
|
NM_182961.4(SYNE1):c.22915G>A (p.Ala7639Thr)
|
rs376169744
|
0.00010
|
|
NM_182961.4(SYNE1):c.23791-7C>T
|
rs375558499
|
0.00010
|
|
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp)
|
rs200346529
|
0.00010
|
|
NM_182961.4(SYNE1):c.4298C>T (p.Thr1433Met)
|
rs139798419
|
0.00010
|
|
NM_182961.4(SYNE1):c.7767C>T (p.His2589=)
|
rs149165706
|
0.00010
|
|
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)
|
rs142676206
|
0.00010
|
|
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=)
|
rs184006845
|
0.00010
|
|
NM_000117.3(EMD):c.188-18C>G
|
rs376439797
|
0.00009
|
|
NM_000117.3(EMD):c.450-12C>T
|
rs1185461600
|
0.00009
|
|
NM_000117.3(EMD):c.470G>A (p.Arg157Gln)
|
rs148515772
|
0.00009
|
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
|
NM_000257.4(MYH7):c.327C>T (p.Tyr109=)
|
rs36211408
|
0.00009
|
|
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=)
|
rs45587932
|
0.00009
|
|
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)
|
rs139646545
|
0.00009
|
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
|
NM_000257.4(MYH7):c.5559+5G>A
|
rs371177871
|
0.00009
|
|
NM_001130965.3(SUN1):c.1747A>G (p.Ser583Gly)
|
rs200128195
|
0.00009
|
|
NM_001130965.3(SUN1):c.241G>A (p.Val81Ile)
|
rs536171212
|
0.00009
|
|
NM_001130965.3(SUN1):c.424G>C (p.Glu142Gln)
|
rs369804846
|
0.00009
|
|
NM_001159699.2(FHL1):c.278A>G (p.Asn93Ser)
|
rs761300463
|
0.00009
|
|
NM_015374.3(SUN2):c.1160G>A (p.Arg387His)
|
rs775651955
|
0.00009
|
|
NM_015374.3(SUN2):c.1237C>T (p.Arg413Trp)
|
rs534367476
|
0.00009
|
|
NM_015374.3(SUN2):c.425-4G>A
|
rs372875785
|
0.00009
|
|
NM_015374.3(SUN2):c.773A>G (p.Asp258Gly)
|
rs201945306
|
0.00009
|
|
NM_015374.3(SUN2):c.836G>A (p.Arg279Gln)
|
rs188815884
|
0.00009
|
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
|
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg)
|
rs730880226
|
0.00009
|
|
NM_170707.4(LMNA):c.-138T>C
|
rs886045359
|
0.00009
|
|
NM_170707.4(LMNA):c.1390A>G (p.Met464Val)
|
rs200262654
|
0.00009
|
|
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)
|
rs56851164
|
0.00009
|
|
NM_182914.3(SYNE2):c.10306G>A (p.Gly3436Ser)
|
rs768614412
|
0.00009
|
|
NM_182914.3(SYNE2):c.10331C>T (p.Ser3444Leu)
|
rs372338837
|
0.00009
|
|
NM_182914.3(SYNE2):c.1060C>T (p.Arg354Trp)
|
rs374073818
|
0.00009
|
|
NM_182914.3(SYNE2):c.10760C>T (p.Ser3587Phe)
|
rs748430621
|
0.00009
|
|
NM_182914.3(SYNE2):c.12656C>T (p.Ala4219Val)
|
rs767658277
|
0.00009
|
|
NM_182914.3(SYNE2):c.12771G>A (p.Val4257=)
|
rs556280812
|
0.00009
|
|
NM_182914.3(SYNE2):c.12931G>A (p.Glu4311Lys)
|
rs142277402
|
0.00009
|
|
NM_182914.3(SYNE2):c.14104C>A (p.Pro4702Thr)
|
rs111880729
|
0.00009
|
|
NM_182914.3(SYNE2):c.14969A>G (p.Asn4990Ser)
|
rs577518631
|
0.00009
|
|
NM_182914.3(SYNE2):c.16700C>T (p.Thr5567Met)
|
rs527368157
|
0.00009
|
|
NM_182914.3(SYNE2):c.18429C>T (p.Asp6143=)
|
rs559412468
|
0.00009
|
|
NM_182914.3(SYNE2):c.18541-13C>G
|
rs374563436
|
0.00009
|
|
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp)
|
rs761998546
|
0.00009
|
|
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=)
|
rs186839881
|
0.00009
|
|
NM_182914.3(SYNE2):c.19623C>T (p.Asp6541=)
|
rs150366060
|
0.00009
|
|
NM_182914.3(SYNE2):c.20061+20C>T
|
rs772301268
|
0.00009
|
|
NM_182914.3(SYNE2):c.20190+14C>T
|
rs201963415
|
0.00009
|
|
NM_182914.3(SYNE2):c.20322G>A (p.Lys6774=)
|
rs375687942
|
0.00009
|
|
NM_182914.3(SYNE2):c.20590C>T (p.Leu6864Phe)
|
rs201554266
|
0.00009
|
|
NM_182914.3(SYNE2):c.354T>C (p.Asp118=)
|
rs376281752
|
0.00009
|
|
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His)
|
rs367549881
|
0.00009
|
|
NM_182914.3(SYNE2):c.6011G>A (p.Gly2004Glu)
|
rs771507854
|
0.00009
|
|
NM_182914.3(SYNE2):c.6056T>G (p.Met2019Arg)
|
rs200404150
|
0.00009
|
|
NM_182914.3(SYNE2):c.6338A>G (p.Gln2113Arg)
|
rs772206760
|
0.00009
|
|
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala)
|
rs201838350
|
0.00009
|
|
NM_182914.3(SYNE2):c.7039G>T (p.Ala2347Ser)
|
rs759251788
|
0.00009
|
|
NM_182914.3(SYNE2):c.907A>G (p.Met303Val)
|
rs377535370
|
0.00009
|
|
NM_182914.3(SYNE2):c.9396G>C (p.Lys3132Asn)
|
rs566182360
|
0.00009
|
|
NM_182961.4(SYNE1):c.-305G>T
|
rs949603195
|
0.00009
|
|
NM_182961.4(SYNE1):c.130-17C>T
|
rs569421654
|
0.00009
|
|
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)
|
rs771898973
|
0.00009
|
|
NM_182961.4(SYNE1):c.13769A>G (p.Asn4590Ser)
|
rs199827801
|
0.00009
|
|
NM_182961.4(SYNE1):c.13917C>T (p.Ser4639=)
|
rs753598358
|
0.00009
|
|
NM_182961.4(SYNE1):c.13949G>A (p.Arg4650Gln)
|
rs763557674
|
0.00009
|
|
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln)
|
rs144963785
|
0.00009
|
|
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr)
|
rs745978878
|
0.00009
|
|
NM_182961.4(SYNE1):c.14955+8T>C
|
rs563400584
|
0.00009
|
|
NM_182961.4(SYNE1):c.15259C>T (p.Arg5087Trp)
|
rs767636254
|
0.00009
|
|
NM_182961.4(SYNE1):c.15294-17T>C
|
rs116949486
|
0.00009
|
|
NM_182961.4(SYNE1):c.15350T>C (p.Met5117Thr)
|
rs150761564
|
0.00009
|
|
NM_182961.4(SYNE1):c.15413C>T (p.Ala5138Val)
|
rs143916942
|
0.00009
|
|
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=)
|
rs192936944
|
0.00009
|
|
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val)
|
rs140850000
|
0.00009
|
|
NM_182961.4(SYNE1):c.16405T>A (p.Leu5469Ile)
|
rs771840766
|
0.00009
|
|
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His)
|
rs199962439
|
0.00009
|
|
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro)
|
rs752135269
|
0.00009
|
|
NM_182961.4(SYNE1):c.17930C>T (p.Thr5977Met)
|
rs767144952
|
0.00009
|
|
NM_182961.4(SYNE1):c.18085G>A (p.Val6029Ile)
|
rs757079165
|
0.00009
|
|
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=)
|
rs759825628
|
0.00009
|
|
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu)
|
rs150700669
|
0.00009
|
|
NM_182961.4(SYNE1):c.19527A>G (p.Gln6509=)
|
rs377427003
|
0.00009
|
|
NM_182961.4(SYNE1):c.19606T>C (p.Phe6536Leu)
|
rs138707300
|
0.00009
|
|
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met)
|
rs145185413
|
0.00009
|
|
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala)
|
rs367790193
|
0.00009
|
|
NM_182961.4(SYNE1):c.20163C>T (p.Asn6721=)
|
rs201221147
|
0.00009
|
|
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys)
|
rs150063353
|
0.00009
|
|
NM_182961.4(SYNE1):c.21195+12A>G
|
rs200930593
|
0.00009
|
|
NM_182961.4(SYNE1):c.21493G>T (p.Ala7165Ser)
|
rs150723622
|
0.00009
|
|
NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=)
|
rs148606479
|
0.00009
|
|
NM_182961.4(SYNE1):c.21951C>T (p.Ser7317=)
|
rs368864479
|
0.00009
|
|
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr)
|
rs145494541
|
0.00009
|
|
NM_182961.4(SYNE1):c.2210T>C (p.Val737Ala)
|
rs746347703
|
0.00009
|
|
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=)
|
rs201537074
|
0.00009
|
|
NM_182961.4(SYNE1):c.22495-10T>A
|
rs528364885
|
0.00009
|
|
NM_182961.4(SYNE1):c.24129+8A>G
|
rs377056257
|
0.00009
|
|
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=)
|
rs749509412
|
0.00009
|
|
NM_182961.4(SYNE1):c.24977-1718G>A
|
rs370143116
|
0.00009
|
|
NM_182961.4(SYNE1):c.24977-5C>T
|
rs767722883
|
0.00009
|
|
NM_182961.4(SYNE1):c.25085C>T (p.Thr8362Met)
|
rs147814237
|
0.00009
|
|
NM_182961.4(SYNE1):c.25092G>A (p.Pro8364=)
|
rs374755363
|
0.00009
|
|
NM_182961.4(SYNE1):c.254G>A (p.Arg85Gln)
|
rs575386895
|
0.00009
|
|
NM_182961.4(SYNE1):c.4544C>T (p.Thr1515Ile)
|
rs148785548
|
0.00009
|
|
NM_182961.4(SYNE1):c.4789-14C>T
|
rs769876215
|
0.00009
|
|
NM_182961.4(SYNE1):c.5101-11G>T
|
rs375142982
|
0.00009
|
|
NM_182961.4(SYNE1):c.6093C>T (p.His2031=)
|
rs150072383
|
0.00009
|
|
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=)
|
rs140986546
|
0.00009
|
|
NM_182961.4(SYNE1):c.8241G>C (p.Gln2747His)
|
rs200658991
|
0.00009
|
|
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr)
|
rs398123005
|
0.00009
|
|
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)
|
rs45560242
|
0.00008
|
|
NM_001130965.3(SUN1):c.1002C>T (p.Asp334=)
|
rs201953343
|
0.00008
|
|
NM_001130965.3(SUN1):c.1026G>A (p.Thr342=)
|
rs370468947
|
0.00008
|
|
NM_001130965.3(SUN1):c.1240G>A (p.Ala414Thr)
|
rs574113932
|
0.00008
|
|
NM_001130965.3(SUN1):c.1264-14T>G
|
rs1554263715
|
0.00008
|
|
NM_001130965.3(SUN1):c.1787G>A (p.Arg596His)
|
rs372947867
|
0.00008
|
|
NM_001130965.3(SUN1):c.2344G>A (p.Glu782Lys)
|
rs373928196
|
0.00008
|
|
NM_001130965.3(SUN1):c.683G>A (p.Arg228His)
|
rs773328901
|
0.00008
|
|
NM_001130965.3(SUN1):c.807G>A (p.Gln269=)
|
rs531500002
|
0.00008
|
|
NM_001130965.3(SUN1):c.962T>G (p.Leu321Trp)
|
rs199719259
|
0.00008
|
|
NM_001347702.2(SYNE1):c.1455C>T (p.Pro485=)
|
rs761266231
|
0.00008
|
|
NM_015374.3(SUN2):c.1190+6G>A
|
rs762466396
|
0.00008
|
|
NM_015374.3(SUN2):c.51C>T (p.Asp17=)
|
rs759125687
|
0.00008
|
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
|
NM_170707.4(LMNA):c.1381-5G>A
|
rs730880133
|
0.00008
|
|
NM_170707.4(LMNA):c.1488+6T>G
|
rs369642101
|
0.00008
|
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00008
|
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
|
NM_182914.3(SYNE2):c.10864G>C (p.Glu3622Gln)
|
rs374132878
|
0.00008
|
|
NM_182914.3(SYNE2):c.11790G>C (p.Gly3930=)
|
rs139751176
|
0.00008
|
|
NM_182914.3(SYNE2):c.11843T>C (p.Val3948Ala)
|
rs372848864
|
0.00008
|
|
NM_182914.3(SYNE2):c.1218G>A (p.Met406Ile)
|
rs768665395
|
0.00008
|
|
NM_182914.3(SYNE2):c.12437A>G (p.His4146Arg)
|
rs375035375
|
0.00008
|
|
NM_182914.3(SYNE2):c.16127A>G (p.Gln5376Arg)
|
rs753646712
|
0.00008
|
|
NM_182914.3(SYNE2):c.16905+4A>C
|
rs369093036
|
0.00008
|
|
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys)
|
rs751734028
|
0.00008
|
|
NM_182914.3(SYNE2):c.17538C>T (p.Asn5846=)
|
rs367757065
|
0.00008
|
|
NM_182914.3(SYNE2):c.17630G>A (p.Arg5877Gln)
|
rs746459100
|
0.00008
|
|
NM_182914.3(SYNE2):c.17717C>A (p.Ala5906Asp)
|
rs755652581
|
0.00008
|
|
NM_182914.3(SYNE2):c.18264C>T (p.Asp6088=)
|
rs182985921
|
0.00008
|
|
NM_182914.3(SYNE2):c.18389+7A>T
|
rs372337180
|
0.00008
|
|
NM_182914.3(SYNE2):c.19403-7G>A
|
rs376162746
|
0.00008
|
|
NM_182914.3(SYNE2):c.2903G>A (p.Arg968His)
|
rs200356303
|
0.00008
|
|
NM_182914.3(SYNE2):c.3141G>A (p.Thr1047=)
|
rs372376442
|
0.00008
|
|
NM_182914.3(SYNE2):c.3513A>G (p.Lys1171=)
|
rs201622508
|
0.00008
|
|
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp)
|
rs773994020
|
0.00008
|
|
NM_182914.3(SYNE2):c.3889A>G (p.Met1297Val)
|
rs368642506
|
0.00008
|
|
NM_182914.3(SYNE2):c.4071G>A (p.Thr1357=)
|
rs371506443
|
0.00008
|
|
NM_182914.3(SYNE2):c.5751C>T (p.Leu1917=)
|
rs373040509
|
0.00008
|
|
NM_182914.3(SYNE2):c.5840+20T>C
|
rs755302292
|
0.00008
|
|
NM_182914.3(SYNE2):c.687C>G (p.Asp229Glu)
|
rs118004985
|
0.00008
|
|
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg)
|
rs376121197
|
0.00008
|
|
NM_182914.3(SYNE2):c.9763T>G (p.Tyr3255Asp)
|
rs550381432
|
0.00008
|
|
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys)
|
rs550171329
|
0.00008
|
|
NM_182961.4(SYNE1):c.12872C>T (p.Ala4291Val)
|
rs151250199
|
0.00008
|
|
NM_182961.4(SYNE1):c.15505C>T (p.Leu5169=)
|
rs372205287
|
0.00008
|
|
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp)
|
rs377410590
|
0.00008
|
|
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala)
|
rs780396166
|
0.00008
|
|
NM_182961.4(SYNE1):c.17499G>C (p.Gly5833=)
|
rs754642929
|
0.00008
|
|
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp)
|
rs749005373
|
0.00008
|
|
NM_182961.4(SYNE1):c.18574-8A>C
|
rs749921940
|
0.00008
|
|
NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp)
|
rs140567583
|
0.00008
|
|
NM_182961.4(SYNE1):c.19199G>A (p.Arg6400His)
|
rs746141355
|
0.00008
|
|
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=)
|
rs780644969
|
0.00008
|
|
NM_182961.4(SYNE1):c.23019+8C>A
|
rs760060099
|
0.00008
|
|
NM_182961.4(SYNE1):c.23933G>A (p.Arg7978Gln)
|
rs774319570
|
0.00008
|
|
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His)
|
rs766462111
|
0.00008
|
|
NM_182961.4(SYNE1):c.2528G>A (p.Arg843His)
|
rs191723029
|
0.00008
|
|
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=)
|
rs776288515
|
0.00008
|
|
NM_182961.4(SYNE1):c.25625G>A (p.Arg8542Gln)
|
rs538407539
|
0.00008
|
|
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)
|
rs746864807
|
0.00008
|
|
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln)
|
rs774776856
|
0.00008
|
|
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=)
|
rs370645510
|
0.00008
|
|
NM_182961.4(SYNE1):c.298G>A (p.Glu100Lys)
|
rs187117263
|
0.00008
|
|
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=)
|
rs118022241
|
0.00008
|
|
NM_182961.4(SYNE1):c.6102A>G (p.Glu2034=)
|
rs752482336
|
0.00008
|
|
NM_182961.4(SYNE1):c.6268G>C (p.Glu2090Gln)
|
rs374482089
|
0.00008
|
|
NM_182961.4(SYNE1):c.7052G>A (p.Ser2351Asn)
|
rs151039167
|
0.00008
|
|
NM_182961.4(SYNE1):c.9448G>A (p.Ala3150Thr)
|
rs141821444
|
0.00008
|
|
NM_182961.4(SYNE1):c.9719T>C (p.Leu3240Pro)
|
rs56308121
|
0.00008
|
|
NM_000117.3(EMD):c.12C>T (p.Tyr4=)
|
rs782011714
|
0.00007
|
|
NM_000117.3(EMD):c.400-14A>G
|
rs781916367
|
0.00007
|
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
|
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=)
|
rs3729831
|
0.00007
|
|
NM_001130965.3(SUN1):c.1676T>C (p.Leu559Pro)
|
rs370324367
|
0.00007
|
|
NM_001130965.3(SUN1):c.1968C>T (p.Arg656=)
|
rs774990499
|
0.00007
|
|
NM_001130965.3(SUN1):c.2198C>T (p.Thr733Met)
|
rs201199820
|
0.00007
|
|
NM_001130965.3(SUN1):c.69T>C (p.Tyr23=)
|
rs373597219
|
0.00007
|
|
NM_001159699.2(FHL1):c.736+8A>G
|
rs376754350
|
0.00007
|
|
NM_015374.3(SUN2):c.1374G>A (p.Pro458=)
|
rs940859685
|
0.00007
|
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
|
NM_170707.4(LMNA):c.1488+7G>A
|
rs374209100
|
0.00007
|
|
NM_182914.3(SYNE2):c.10457A>G (p.Asp3486Gly)
|
rs768214736
|
0.00007
|
|
NM_182914.3(SYNE2):c.12492+4A>T
|
rs1016611009
|
0.00007
|
|
NM_182914.3(SYNE2):c.12782C>T (p.Pro4261Leu)
|
rs147278548
|
0.00007
|
|
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr)
|
rs200997641
|
0.00007
|
|
NM_182914.3(SYNE2):c.14984C>T (p.Ser4995Leu)
|
rs149790950
|
0.00007
|
|
NM_182914.3(SYNE2):c.16244G>T (p.Ser5415Ile)
|
rs377399289
|
0.00007
|
|
NM_182914.3(SYNE2):c.17091G>C (p.Gly5697=)
|
rs146814777
|
0.00007
|
|
NM_182914.3(SYNE2):c.19636G>A (p.Gly6546Ser)
|
rs199577239
|
0.00007
|
|
NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn)
|
rs760936547
|
0.00007
|
|
NM_182914.3(SYNE2):c.2472G>A (p.Gln824=)
|
rs760909392
|
0.00007
|
|
NM_182914.3(SYNE2):c.3326G>A (p.Ser1109Asn)
|
rs150464227
|
0.00007
|
|
NM_182914.3(SYNE2):c.3786+19A>G
|
rs374889181
|
0.00007
|
|
NM_182914.3(SYNE2):c.4116C>T (p.Asp1372=)
|
rs752238427
|
0.00007
|
|
NM_182914.3(SYNE2):c.4704G>C (p.Glu1568Asp)
|
rs112802347
|
0.00007
|
|
NM_182914.3(SYNE2):c.6715-11T>G
|
rs538625441
|
0.00007
|
|
NM_182914.3(SYNE2):c.7151C>A (p.Ser2384Tyr)
|
rs759415502
|
0.00007
|
|
NM_182914.3(SYNE2):c.7457_7459del (p.Thr2486_Gly2487delinsArg)
|
rs775671986
|
0.00007
|
|
NM_182914.3(SYNE2):c.8861C>T (p.Ala2954Val)
|
rs369713092
|
0.00007
|
|
NM_182961.4(SYNE1):c.12399A>G (p.Glu4133=)
|
rs368597714
|
0.00007
|
|
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)
|
rs763930147
|
0.00007
|
|
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys)
|
rs187403476
|
0.00007
|
|
NM_182961.4(SYNE1):c.1632+12G>T
|
rs765558597
|
0.00007
|
|
NM_182961.4(SYNE1):c.16786G>A (p.Val5596Met)
|
rs148158986
|
0.00007
|
|
NM_182961.4(SYNE1):c.17347-6C>T
|
rs201692248
|
0.00007
|
|
NM_182961.4(SYNE1):c.17841A>G (p.Leu5947=)
|
rs143490673
|
0.00007
|
|
NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=)
|
rs942245024
|
0.00007
|
|
NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln)
|
rs781427258
|
0.00007
|
|
NM_182961.4(SYNE1):c.20200-3T>C
|
rs770710698
|
0.00007
|
|
NM_182961.4(SYNE1):c.21061T>C (p.Leu7021=)
|
rs202172980
|
0.00007
|
|
NM_182961.4(SYNE1):c.21819C>T (p.Asp7273=)
|
rs376651419
|
0.00007
|
|
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)
|
rs201392317
|
0.00007
|
|
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=)
|
rs371204427
|
0.00007
|
|
NM_182961.4(SYNE1):c.2448G>A (p.Pro816=)
|
rs375111758
|
0.00007
|
|
NM_182961.4(SYNE1):c.2569-7G>A
|
rs372744173
|
0.00007
|
|
NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val)
|
rs772814249
|
0.00007
|
|
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg)
|
rs369192821
|
0.00007
|
|
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys)
|
rs377446250
|
0.00007
|
|
NM_182961.4(SYNE1):c.2991G>A (p.Leu997=)
|
rs1014746277
|
0.00007
|
|
NM_182961.4(SYNE1):c.337G>A (p.Asp113Asn)
|
rs990137456
|
0.00007
|
|
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala)
|
rs555800735
|
0.00007
|
|
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys)
|
rs200276242
|
0.00007
|
|
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)
|
rs146567226
|
0.00007
|
|
NM_182961.4(SYNE1):c.6231-8C>T
|
rs777108375
|
0.00007
|
|
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr)
|
rs577979265
|
0.00007
|
|
NM_182961.4(SYNE1):c.8812T>C (p.Phe2938Leu)
|
rs919427159
|
0.00007
|
|
NM_182961.4(SYNE1):c.952G>A (p.Val318Ile)
|
rs373619878
|
0.00007
|
|
NM_000117.3(EMD):c.188-12C>T
|
rs371016049
|
0.00006
|
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
|
NM_000257.4(MYH7):c.1179C>T (p.Ala393=)
|
rs143293426
|
0.00006
|
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
|
NM_000257.4(MYH7):c.1888+8G>T
|
rs200668471
|
0.00006
|
|
NM_000257.4(MYH7):c.2028T>C (p.Asn676=)
|
rs145564868
|
0.00006
|
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
|
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)
|
rs369437262
|
0.00006
|
|
NM_001130965.3(SUN1):c.1263+7G>T
|
rs758135165
|
0.00006
|
|
NM_001130965.3(SUN1):c.1301G>A (p.Arg434His)
|
rs776823974
|
0.00006
|
|
NM_001130965.3(SUN1):c.1768A>T (p.Ile590Leu)
|
rs374725863
|
0.00006
|
|
NM_001130965.3(SUN1):c.23T>C (p.Met8Thr)
|
rs373925818
|
0.00006
|
|
NM_001130965.3(SUN1):c.266+10G>A
|
rs369172026
|
0.00006
|
|
NM_001130965.3(SUN1):c.281G>A (p.Arg94His)
|
rs112598200
|
0.00006
|
|
NM_001130965.3(SUN1):c.29G>A (p.Ser10Asn)
|
rs200505697
|
0.00006
|
|
NM_001130965.3(SUN1):c.537G>A (p.Ala179=)
|
rs778621413
|
0.00006
|
|
NM_001130965.3(SUN1):c.621C>T (p.Pro207=)
|
rs367825879
|
0.00006
|
|
NM_001130965.3(SUN1):c.622G>A (p.Val208Met)
|
rs539058781
|
0.00006
|
|
NM_001130965.3(SUN1):c.729G>A (p.Ser243=)
|
rs770542036
|
0.00006
|
|
NM_001130965.3(SUN1):c.900C>G (p.Phe300Leu)
|
rs377260468
|
0.00006
|
|
NM_001130965.3(SUN1):c.958G>A (p.Val320Met)
|
rs555876242
|
0.00006
|
|
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu)
|
rs781053469
|
0.00006
|
|
NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe)
|
rs200854314
|
0.00006
|
|
NM_015374.3(SUN2):c.1152C>T (p.Ser384=)
|
rs373906710
|
0.00006
|
|
NM_015374.3(SUN2):c.1190+9C>T
|
rs778700058
|
0.00006
|
|
NM_015374.3(SUN2):c.1205C>T (p.Ser402Phe)
|
rs189897179
|
0.00006
|
|
NM_015374.3(SUN2):c.1353C>T (p.Asp451=)
|
rs373597815
|
0.00006
|
|
NM_015374.3(SUN2):c.1684C>T (p.Arg562Ter)
|
rs1370359939
|
0.00006
|
|
NM_015374.3(SUN2):c.1779+7A>T
|
rs374667255
|
0.00006
|
|
NM_015374.3(SUN2):c.1859G>A (p.Arg620His)
|
rs566312173
|
0.00006
|
|
NM_015374.3(SUN2):c.459G>A (p.Ser153=)
|
rs138320872
|
0.00006
|
|
NM_015374.3(SUN2):c.472G>A (p.Ala158Thr)
|
rs199600089
|
0.00006
|
|
NM_015374.3(SUN2):c.615-9G>A
|
rs757921553
|
0.00006
|
|
NM_015374.3(SUN2):c.616C>A (p.Arg206Ser)
|
rs150381950
|
0.00006
|
|
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)
|
rs193922707
|
0.00006
|
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
|
NM_170707.4(LMNA):c.1968+37C>T
|
rs555070042
|
0.00006
|
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
|
NM_182914.3(SYNE2):c.10051G>C (p.Glu3351Gln)
|
rs750654159
|
0.00006
|
|
NM_182914.3(SYNE2):c.1031A>G (p.Lys344Arg)
|
rs776084455
|
0.00006
|
|
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln)
|
rs752900825
|
0.00006
|
|
NM_182914.3(SYNE2):c.10582C>G (p.Leu3528Val)
|
rs374649578
|
0.00006
|
|
NM_182914.3(SYNE2):c.11055A>G (p.Ser3685=)
|
rs377064380
|
0.00006
|
|
NM_182914.3(SYNE2):c.11876C>T (p.Thr3959Ile)
|
rs149790389
|
0.00006
|
|
NM_182914.3(SYNE2):c.12397G>T (p.Ala4133Ser)
|
rs758104840
|
0.00006
|
|
NM_182914.3(SYNE2):c.12407C>T (p.Ser4136Leu)
|
rs148970735
|
0.00006
|
|
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile)
|
rs376207235
|
0.00006
|
|
NM_182914.3(SYNE2):c.14088G>A (p.Gly4696=)
|
rs200893674
|
0.00006
|
|
NM_182914.3(SYNE2):c.14184A>G (p.Thr4728=)
|
rs753123786
|
0.00006
|
|
NM_182914.3(SYNE2):c.14646+6T>A
|
rs369760846
|
0.00006
|
|
NM_182914.3(SYNE2):c.14976+3A>G
|
rs747632731
|
0.00006
|
|
NM_182914.3(SYNE2):c.14976+7T>C
|
rs373748782
|
0.00006
|
|
NM_182914.3(SYNE2):c.15185G>A (p.Arg5062His)
|
rs760110795
|
0.00006
|
|
NM_182914.3(SYNE2):c.15439A>G (p.Met5147Val)
|
rs778595864
|
0.00006
|
|
NM_182914.3(SYNE2):c.15552C>T (p.Asn5184=)
|
rs201334658
|
0.00006
|
|
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg)
|
rs146573874
|
0.00006
|
|
NM_182914.3(SYNE2):c.15720A>C (p.Ala5240=)
|
rs370147066
|
0.00006
|
|
NM_182914.3(SYNE2):c.16084A>G (p.Thr5362Ala)
|
rs141943858
|
0.00006
|
|
NM_182914.3(SYNE2):c.16374A>T (p.Gln5458His)
|
rs191057574
|
0.00006
|
|
NM_182914.3(SYNE2):c.17409G>A (p.Lys5803=)
|
rs746000868
|
0.00006
|
|
NM_182914.3(SYNE2):c.17524G>A (p.Glu5842Lys)
|
rs769564739
|
0.00006
|
|
NM_182914.3(SYNE2):c.17591A>G (p.Asn5864Ser)
|
rs566886977
|
0.00006
|
|
NM_182914.3(SYNE2):c.17791G>A (p.Ala5931Thr)
|
rs945430507
|
0.00006
|
|
NM_182914.3(SYNE2):c.17973G>A (p.Glu5991=)
|
rs146253751
|
0.00006
|
|
NM_182914.3(SYNE2):c.18706G>A (p.Val6236Ile)
|
rs113434745
|
0.00006
|
|
NM_182914.3(SYNE2):c.18834C>T (p.Asp6278=)
|
rs757742735
|
0.00006
|
|
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln)
|
rs140857065
|
0.00006
|
|
NM_182914.3(SYNE2):c.19151G>A (p.Ser6384Asn)
|
rs1440528762
|
0.00006
|
|
NM_182914.3(SYNE2):c.19185T>C (p.His6395=)
|
rs146775592
|
0.00006
|
|
NM_182914.3(SYNE2):c.19316A>C (p.Tyr6439Ser)
|
rs753261176
|
0.00006
|
|
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser)
|
rs200937358
|
0.00006
|
|
NM_182914.3(SYNE2):c.19911C>T (p.Asn6637=)
|
rs201444715
|
0.00006
|
|
NM_182914.3(SYNE2):c.20140G>A (p.Asp6714Asn)
|
rs751000273
|
0.00006
|
|
NM_182914.3(SYNE2):c.2289C>T (p.Asp763=)
|
rs201026780
|
0.00006
|
|
NM_182914.3(SYNE2):c.296C>G (p.Thr99Arg)
|
rs557215551
|
0.00006
|
|
NM_182914.3(SYNE2):c.303A>G (p.Leu101=)
|
rs371277498
|
0.00006
|
|
NM_182914.3(SYNE2):c.3708C>T (p.Gly1236=)
|
rs373420375
|
0.00006
|
|
NM_182914.3(SYNE2):c.3829C>T (p.Arg1277Cys)
|
rs530177448
|
0.00006
|
|
NM_182914.3(SYNE2):c.397C>T (p.Leu133=)
|
rs750150695
|
0.00006
|
|
NM_182914.3(SYNE2):c.4252G>C (p.Val1418Leu)
|
rs770898049
|
0.00006
|
|
NM_182914.3(SYNE2):c.4785C>A (p.Asn1595Lys)
|
rs199704293
|
0.00006
|
|
NM_182914.3(SYNE2):c.4906G>A (p.Asp1636Asn)
|
rs1030213853
|
0.00006
|
|
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu)
|
rs80046702
|
0.00006
|
|
NM_182914.3(SYNE2):c.593A>G (p.Tyr198Cys)
|
rs377436719
|
0.00006
|
|
NM_182914.3(SYNE2):c.6172A>G (p.Lys2058Glu)
|
rs762452734
|
0.00006
|
|
NM_182914.3(SYNE2):c.6946G>A (p.Val2316Ile)
|
rs192424808
|
0.00006
|
|
NM_182914.3(SYNE2):c.7300C>T (p.Arg2434Trp)
|
rs570233690
|
0.00006
|
|
NM_182914.3(SYNE2):c.7358A>T (p.Glu2453Val)
|
rs367811181
|
0.00006
|
|
NM_182914.3(SYNE2):c.7664C>T (p.Thr2555Met)
|
rs201297144
|
0.00006
|
|
NM_182914.3(SYNE2):c.7846A>C (p.Lys2616Gln)
|
rs765783307
|
0.00006
|
|
NM_182914.3(SYNE2):c.787+15T>G
|
rs374295389
|
0.00006
|
|
NM_182914.3(SYNE2):c.788-6T>C
|
rs200037313
|
0.00006
|
|
NM_182914.3(SYNE2):c.8524A>G (p.Ile2842Val)
|
rs370213701
|
0.00006
|
|
NM_182914.3(SYNE2):c.8546T>C (p.Met2849Thr)
|
rs759525460
|
0.00006
|
|
NM_182914.3(SYNE2):c.8691G>C (p.Glu2897Asp)
|
rs758754933
|
0.00006
|
|
NM_182914.3(SYNE2):c.8862G>T (p.Ala2954=)
|
rs373930498
|
0.00006
|
|
NM_182914.3(SYNE2):c.9813C>T (p.Ser3271=)
|
rs764422613
|
0.00006
|
|
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=)
|
rs369227827
|
0.00006
|
|
NM_182961.4(SYNE1):c.10160C>G (p.Ala3387Gly)
|
rs201621810
|
0.00006
|
|
NM_182961.4(SYNE1):c.10300-6C>T
|
rs762645232
|
0.00006
|
|
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=)
|
rs377049622
|
0.00006
|
|
NM_182961.4(SYNE1):c.10935C>T (p.His3645=)
|
rs201704617
|
0.00006
|
|
NM_182961.4(SYNE1):c.11475C>G (p.Cys3825Trp)
|
rs146919170
|
0.00006
|
|
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu)
|
rs375752705
|
0.00006
|
|
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys)
|
rs148935596
|
0.00006
|
|
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys)
|
rs145738035
|
0.00006
|
|
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=)
|
rs373438870
|
0.00006
|
|
NM_182961.4(SYNE1):c.13031A>T (p.Glu4344Val)
|
rs145639107
|
0.00006
|
|
NM_182961.4(SYNE1):c.13102G>A (p.Ala4368Thr)
|
rs201900423
|
0.00006
|
|
NM_182961.4(SYNE1):c.13208C>T (p.Ser4403Leu)
|
rs139490297
|
0.00006
|
|
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp)
|
rs75153800
|
0.00006
|
|
NM_182961.4(SYNE1):c.13631A>C (p.Asp4544Ala)
|
rs149081144
|
0.00006
|
|
NM_182961.4(SYNE1):c.13656C>A (p.His4552Gln)
|
rs1267929537
|
0.00006
|
|
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile)
|
rs147125369
|
0.00006
|
|
NM_182961.4(SYNE1):c.14258T>C (p.Leu4753Pro)
|
rs371189077
|
0.00006
|
|
NM_182961.4(SYNE1):c.14314T>G (p.Leu4772Val)
|
rs143910248
|
0.00006
|
|
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=)
|
rs767294195
|
0.00006
|
|
NM_182961.4(SYNE1):c.1665A>C (p.Gln555His)
|
rs561648669
|
0.00006
|
|
NM_182961.4(SYNE1):c.18783A>G (p.Gln6261=)
|
rs774395991
|
0.00006
|
|
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile)
|
rs557729565
|
0.00006
|
|
NM_182961.4(SYNE1):c.19693-15G>A
|
rs187885923
|
0.00006
|
|
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)
|
rs190673256
|
0.00006
|
|
NM_182961.4(SYNE1):c.20409A>G (p.Glu6803=)
|
rs375649094
|
0.00006
|
|
NM_182961.4(SYNE1):c.21657-20G>C
|
rs369177487
|
0.00006
|
|
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr)
|
rs202121741
|
0.00006
|
|
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp)
|
rs146907132
|
0.00006
|
|
NM_182961.4(SYNE1):c.22589+18T>C
|
rs200821668
|
0.00006
|
|
NM_182961.4(SYNE1):c.22590-17A>G
|
rs756803477
|
0.00006
|
|
NM_182961.4(SYNE1):c.22902G>A (p.Ser7634=)
|
rs140577642
|
0.00006
|
|
NM_182961.4(SYNE1):c.23874C>T (p.Asp7958=)
|
rs749141262
|
0.00006
|
|
NM_182961.4(SYNE1):c.23983G>A (p.Glu7995Lys)
|
rs781626097
|
0.00006
|
|
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln)
|
rs143900928
|
0.00006
|
|
NM_182961.4(SYNE1):c.25103C>T (p.Thr8368Ile)
|
rs371476665
|
0.00006
|
|
NM_182961.4(SYNE1):c.25283C>A (p.Ala8428Glu)
|
rs775901718
|
0.00006
|
|
NM_182961.4(SYNE1):c.25577A>C (p.Gln8526Pro)
|
rs770802176
|
0.00006
|
|
NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His)
|
rs144888773
|
0.00006
|
|
NM_182961.4(SYNE1):c.25966C>A (p.Leu8656Met)
|
rs748509032
|
0.00006
|
|
NM_182961.4(SYNE1):c.2893-14C>T
|
rs914254176
|
0.00006
|
|
NM_182961.4(SYNE1):c.2893-5G>A
|
rs370196519
|
0.00006
|
|
NM_182961.4(SYNE1):c.310-468G>A
|
rs143635963
|
0.00006
|
|
NM_182961.4(SYNE1):c.334A>T (p.Thr112Ser)
|
rs750010888
|
0.00006
|
|
NM_182961.4(SYNE1):c.336C>T (p.Thr112=)
|
rs149008539
|
0.00006
|
|
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala)
|
rs148733093
|
0.00006
|
|
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu)
|
rs760256766
|
0.00006
|
|
NM_182961.4(SYNE1):c.3872A>G (p.Asp1291Gly)
|
rs148000801
|
0.00006
|
|
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=)
|
rs754584363
|
0.00006
|
|
NM_182961.4(SYNE1):c.4053A>T (p.Thr1351=)
|
rs966425412
|
0.00006
|
|
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln)
|
rs149606474
|
0.00006
|
|
NM_182961.4(SYNE1):c.4749T>A (p.Ser1583=)
|
rs201761581
|
0.00006
|
|
NM_182961.4(SYNE1):c.4819A>G (p.Ser1607Gly)
|
rs752342922
|
0.00006
|
|
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile)
|
rs755866233
|
0.00006
|
|
NM_182961.4(SYNE1):c.5228A>G (p.Asp1743Gly)
|
rs555731770
|
0.00006
|
|
NM_182961.4(SYNE1):c.5392G>T (p.Asp1798Tyr)
|
rs772266857
|
0.00006
|
|
NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly)
|
rs557081125
|
0.00006
|
|
NM_182961.4(SYNE1):c.5644G>T (p.Gly1882Cys)
|
rs747706541
|
0.00006
|
|
NM_182961.4(SYNE1):c.581+7A>G
|
rs367617527
|
0.00006
|
|
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=)
|
rs533039765
|
0.00006
|
|
NM_182961.4(SYNE1):c.6094G>A (p.Glu2032Lys)
|
rs367594476
|
0.00006
|
|
NM_182961.4(SYNE1):c.6603T>C (p.Asp2201=)
|
rs199965276
|
0.00006
|
|
NM_182961.4(SYNE1):c.666G>A (p.Pro222=)
|
rs141368652
|
0.00006
|
|
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=)
|
rs144910464
|
0.00006
|
|
NM_182961.4(SYNE1):c.7474G>T (p.Ala2492Ser)
|
rs761396972
|
0.00006
|
|
NM_182961.4(SYNE1):c.7478A>G (p.Asn2493Ser)
|
rs763615170
|
0.00006
|
|
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=)
|
rs757104773
|
0.00006
|
|
NM_182961.4(SYNE1):c.8488-15T>G
|
rs754541640
|
0.00006
|
|
NM_182961.4(SYNE1):c.8652+14C>T
|
rs761672973
|
0.00006
|
|
NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys)
|
rs140568392
|
0.00006
|
|
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn)
|
rs77221231
|
0.00006
|
|
NM_182961.4(SYNE1):c.9738C>T (p.Ala3246=)
|
rs140123292
|
0.00006
|
|
NM_182961.4(SYNE1):c.9807+6G>A
|
rs376694958
|
0.00006
|
|
NM_182961.4(SYNE1):c.9896C>T (p.Ala3299Val)
|
rs373760161
|
0.00006
|
|
NM_000117.3(EMD):c.108G>A (p.Lys36=)
|
rs1057521050
|
0.00005
|
|
NM_000117.3(EMD):c.166G>A (p.Ala56Thr)
|
rs1057520579
|
0.00005
|
|
NM_000117.3(EMD):c.215A>T (p.Asp72Val)
|
rs794729021
|
0.00005
|
|
NM_000117.3(EMD):c.355C>A (p.Gln119Lys)
|
rs398123157
|
0.00005
|
|
NM_000117.3(EMD):c.525C>T (p.Ser175=)
|
rs782367505
|
0.00005
|
|
NM_000117.3(EMD):c.746A>G (p.Glu249Gly)
|
rs781947413
|
0.00005
|
|
NM_000257.4(MYH7):c.153C>T (p.Ile51=)
|
rs373145667
|
0.00005
|
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
|
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln)
|
rs368575559
|
0.00005
|
|
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)
|
rs144200285
|
0.00005
|
|
NM_000257.4(MYH7):c.4519+6C>T
|
rs370779504
|
0.00005
|
|
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)
|
rs200303340
|
0.00005
|
|
NM_000257.4(MYH7):c.67C>T (p.Arg23Trp)
|
rs730880828
|
0.00005
|
|
NM_001130965.3(SUN1):c.1362G>T (p.Lys454Asn)
|
rs202122012
|
0.00005
|
|
NM_001130965.3(SUN1):c.163A>G (p.Ser55Gly)
|
rs777193403
|
0.00005
|
|
NM_001130965.3(SUN1):c.2220G>A (p.Ser740=)
|
rs375028589
|
0.00005
|
|
NM_001130965.3(SUN1):c.452-14G>T
|
rs200870545
|
0.00005
|
|
NM_001130965.3(SUN1):c.597G>A (p.Thr199=)
|
rs374832216
|
0.00005
|
|
NM_001130965.3(SUN1):c.722C>T (p.Ala241Val)
|
rs369311027
|
0.00005
|
|
NM_001130965.3(SUN1):c.763G>A (p.Ala255Thr)
|
rs201864272
|
0.00005
|
|
NM_001159699.2(FHL1):c.408C>T (p.Thr136=)
|
rs755900253
|
0.00005
|
|
NM_001159699.2(FHL1):c.456C>T (p.Ile152=)
|
rs747594885
|
0.00005
|
|
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val)
|
rs146125558
|
0.00005
|
|
NM_001159699.2(FHL1):c.550-15C>A
|
rs764137409
|
0.00005
|
|
NM_001159699.2(FHL1):c.696T>C (p.Phe232=)
|
rs758030097
|
0.00005
|
|
NM_001159699.2(FHL1):c.737-18C>T
|
rs866716263
|
0.00005
|
|
NM_001159699.2(FHL1):c.817G>A (p.Val273Met)
|
rs190006104
|
0.00005
|
|
NM_015374.3(SUN2):c.1275G>A (p.Leu425=)
|
rs567254059
|
0.00005
|
|
NM_015374.3(SUN2):c.2002G>A (p.Asp668Asn)
|
rs549404842
|
0.00005
|
|
NM_015374.3(SUN2):c.45C>T (p.Asp15=)
|
rs146335558
|
0.00005
|
|
NM_015374.3(SUN2):c.726C>T (p.His242=)
|
rs539723941
|
0.00005
|
|
NM_015374.3(SUN2):c.8G>A (p.Arg3Gln)
|
rs764750687
|
0.00005
|
|
NM_024334.3(TMEM43):c.442+12G>C
|
rs530183718
|
0.00005
|
|
NM_024334.3(TMEM43):c.679C>G (p.His227Asp)
|
rs201460674
|
0.00005
|
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
|
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)
|
rs267607570
|
0.00005
|
|
NM_182914.3(SYNE2):c.10867-19A>G
|
rs367619083
|
0.00005
|
|
NM_182914.3(SYNE2):c.10867-3T>C
|
rs764840139
|
0.00005
|
|
NM_182914.3(SYNE2):c.1119C>T (p.Leu373=)
|
rs1480808285
|
0.00005
|
|
NM_182914.3(SYNE2):c.11937A>G (p.Leu3979=)
|
rs147744381
|
0.00005
|
|
NM_182914.3(SYNE2):c.13000C>G (p.Gln4334Glu)
|
rs374108464
|
0.00005
|
|
NM_182914.3(SYNE2):c.13423G>A (p.Val4475Ile)
|
rs200498250
|
0.00005
|
|
NM_182914.3(SYNE2):c.13791C>A (p.Gly4597=)
|
rs149350389
|
0.00005
|
|
NM_182914.3(SYNE2):c.14227T>C (p.Leu4743=)
|
rs201872454
|
0.00005
|
|
NM_182914.3(SYNE2):c.14298C>G (p.Thr4766=)
|
rs779655754
|
0.00005
|
|
NM_182914.3(SYNE2):c.15073A>G (p.Thr5025Ala)
|
rs527550049
|
0.00005
|
|
NM_182914.3(SYNE2):c.15307-3T>C
|
rs781158552
|
0.00005
|
|
NM_182914.3(SYNE2):c.15667T>A (p.Ser5223Thr)
|
rs150361559
|
0.00005
|
|
NM_182914.3(SYNE2):c.16754G>A (p.Arg5585His)
|
rs141144237
|
0.00005
|
|
NM_182914.3(SYNE2):c.1698T>C (p.Asp566=)
|
rs764373442
|
0.00005
|
|
NM_182914.3(SYNE2):c.17713-20A>G
|
rs754951624
|
0.00005
|
|
NM_182914.3(SYNE2):c.18265G>A (p.Val6089Ile)
|
rs759251568
|
0.00005
|
|
NM_182914.3(SYNE2):c.1875C>T (p.His625=)
|
rs372968718
|
0.00005
|
|
NM_182914.3(SYNE2):c.19657+6G>A
|
rs202159156
|
0.00005
|
|
NM_182914.3(SYNE2):c.19938C>T (p.Thr6646=)
|
rs765762035
|
0.00005
|
|
NM_182914.3(SYNE2):c.19962C>G (p.Leu6654=)
|
rs139326092
|
0.00005
|
|
NM_182914.3(SYNE2):c.20177G>A (p.Arg6726Gln)
|
rs200847772
|
0.00005
|
|
NM_182914.3(SYNE2):c.20413G>A (p.Glu6805Lys)
|
rs199923651
|
0.00005
|
|
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys)
|
rs758897129
|
0.00005
|
|
NM_182914.3(SYNE2):c.2877A>G (p.Gln959=)
|
rs757754481
|
0.00005
|
|
NM_182914.3(SYNE2):c.2940+6A>G
|
rs371534076
|
0.00005
|
|
NM_182914.3(SYNE2):c.3532T>C (p.Leu1178=)
|
rs749552415
|
0.00005
|
|
NM_182914.3(SYNE2):c.3755T>C (p.Ile1252Thr)
|
rs767383909
|
0.00005
|
|
NM_182914.3(SYNE2):c.3885C>T (p.His1295=)
|
rs570341792
|
0.00005
|
|
NM_182914.3(SYNE2):c.3971C>T (p.Ala1324Val)
|
rs778039158
|
0.00005
|
|
NM_182914.3(SYNE2):c.3989C>T (p.Ala1330Val)
|
rs762901807
|
0.00005
|
|
NM_182914.3(SYNE2):c.4070C>T (p.Thr1357Met)
|
rs769845003
|
0.00005
|
|
NM_182914.3(SYNE2):c.5045T>C (p.Leu1682Pro)
|
rs199668814
|
0.00005
|
|
NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val)
|
rs375543783
|
0.00005
|
|
NM_182914.3(SYNE2):c.7223A>T (p.Asp2408Val)
|
rs550374867
|
0.00005
|
|
NM_182914.3(SYNE2):c.80-7T>G
|
rs769250456
|
0.00005
|
|
NM_182961.4(SYNE1):c.10048A>G (p.Asn3350Asp)
|
rs145117891
|
0.00005
|
|
NM_182961.4(SYNE1):c.10443+5G>A
|
rs557835636
|
0.00005
|
|
NM_182961.4(SYNE1):c.1048-4T>C
|
rs894164368
|
0.00005
|
|
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=)
|
rs374376301
|
0.00005
|
|
NM_182961.4(SYNE1):c.11668G>A (p.Val3890Ile)
|
rs760680769
|
0.00005
|
|
NM_182961.4(SYNE1):c.118C>T (p.His40Tyr)
|
rs141719907
|
0.00005
|
|
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly)
|
rs377526133
|
0.00005
|
|
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met)
|
rs148204741
|
0.00005
|
|
NM_182961.4(SYNE1):c.12794+19T>C
|
rs770394935
|
0.00005
|
|
NM_182961.4(SYNE1):c.12958C>T (p.His4320Tyr)
|
rs775930653
|
0.00005
|
|
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr)
|
rs368653411
|
0.00005
|
|
NM_182961.4(SYNE1):c.15917+10C>T
|
rs1434685633
|
0.00005
|
|
NM_182961.4(SYNE1):c.16094C>T (p.Thr5365Ile)
|
rs1273141730
|
0.00005
|
|
NM_182961.4(SYNE1):c.16568A>G (p.Asn5523Ser)
|
rs773901491
|
0.00005
|
|
NM_182961.4(SYNE1):c.16572+11C>T
|
rs181304168
|
0.00005
|
|
NM_182961.4(SYNE1):c.16928A>G (p.Lys5643Arg)
|
rs144714939
|
0.00005
|
|
NM_182961.4(SYNE1):c.17576C>T (p.Pro5859Leu)
|
rs769058871
|
0.00005
|
|
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu)
|
rs200589166
|
0.00005
|
|
NM_182961.4(SYNE1):c.18727G>A (p.Glu6243Lys)
|
rs200360218
|
0.00005
|
|
NM_182961.4(SYNE1):c.19111G>A (p.Gly6371Arg)
|
rs572189966
|
0.00005
|
|
NM_182961.4(SYNE1):c.19729C>T (p.Arg6577Trp)
|
rs368534747
|
0.00005
|
|
NM_182961.4(SYNE1):c.19849G>A (p.Val6617Met)
|
rs184210675
|
0.00005
|
|
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)
|
rs143674856
|
0.00005
|
|
NM_182961.4(SYNE1):c.20738G>A (p.Arg6913His)
|
rs760706012
|
0.00005
|
|
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=)
|
rs766515787
|
0.00005
|
|
NM_182961.4(SYNE1):c.20960G>A (p.Ser6987Asn)
|
rs779301586
|
0.00005
|
|
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser)
|
rs777227521
|
0.00005
|
|
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile)
|
rs760451139
|
0.00005
|
|
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met)
|
rs374866393
|
0.00005
|
|
NM_182961.4(SYNE1):c.21862-5T>C
|
rs773382528
|
0.00005
|
|
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys)
|
rs141278167
|
0.00005
|
|
NM_182961.4(SYNE1):c.23168G>A (p.Ser7723Asn)
|
rs146280967
|
0.00005
|
|
NM_182961.4(SYNE1):c.23664G>A (p.Gln7888=)
|
rs375008462
|
0.00005
|
|
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=)
|
rs767628258
|
0.00005
|
|
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys)
|
rs772622270
|
0.00005
|
|
NM_182961.4(SYNE1):c.24634C>T (p.Arg8212Cys)
|
rs139885317
|
0.00005
|
|
NM_182961.4(SYNE1):c.24783C>T (p.Leu8261=)
|
rs771221504
|
0.00005
|
|
NM_182961.4(SYNE1):c.24862G>A (p.Asp8288Asn)
|
rs748216902
|
0.00005
|
|
NM_182961.4(SYNE1):c.25459-7T>G
|
rs367972414
|
0.00005
|
|
NM_182961.4(SYNE1):c.25907A>G (p.His8636Arg)
|
rs759004104
|
0.00005
|
|
NM_182961.4(SYNE1):c.26093C>T (p.Thr8698Met)
|
rs139560053
|
0.00005
|
|
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys)
|
rs757479164
|
0.00005
|
|
NM_182961.4(SYNE1):c.310-459A>G
|
rs371580053
|
0.00005
|
|
NM_182961.4(SYNE1):c.3269T>G (p.Val1090Gly)
|
rs539464964
|
0.00005
|
|
NM_182961.4(SYNE1):c.3303T>C (p.Cys1101=)
|
rs369863768
|
0.00005
|
|
NM_182961.4(SYNE1):c.3975G>A (p.Glu1325=)
|
rs372832470
|
0.00005
|
|
NM_182961.4(SYNE1):c.4000C>T (p.Arg1334Cys)
|
rs754120599
|
0.00005
|
|
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg)
|
rs769420760
|
0.00005
|
|
NM_182961.4(SYNE1):c.6129G>A (p.Lys2043=)
|
rs1401669271
|
0.00005
|
|
NM_182961.4(SYNE1):c.6231-12T>C
|
rs370687503
|
0.00005
|
|
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu)
|
rs201127061
|
0.00005
|
|
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val)
|
rs528549317
|
0.00005
|
|
NM_182961.4(SYNE1):c.8222G>A (p.Arg2741Lys)
|
rs181218387
|
0.00005
|
|
NM_182961.4(SYNE1):c.8946G>A (p.Gln2982=)
|
rs769033712
|
0.00005
|
|
NM_182961.4(SYNE1):c.9371T>C (p.Met3124Thr)
|
rs756079906
|
0.00005
|
|
NM_000117.3(EMD):c.171C>T (p.Ser57=)
|
rs900267221
|
0.00004
|
|
NM_000117.3(EMD):c.183C>T (p.Phe61=)
|
rs782643028
|
0.00004
|
|
NM_000117.3(EMD):c.30C>G (p.Thr10=)
|
rs145781828
|
0.00004
|
|
NM_000117.3(EMD):c.459C>T (p.Pro153=)
|
rs782147479
|
0.00004
|
|
NM_000117.3(EMD):c.581C>T (p.Ser194Leu)
|
rs782697057
|
0.00004
|
|
NM_000117.3(EMD):c.585A>G (p.Ser195=)
|
rs140970151
|
0.00004
|
|
NM_000117.3(EMD):c.608G>A (p.Arg203His)
|
rs144842093
|
0.00004
|
|
NM_000257.4(MYH7):c.1368C>T (p.Phe456=)
|
rs766216871
|
0.00004
|
|
NM_000257.4(MYH7):c.211G>A (p.Val71Met)
|
rs730880830
|
0.00004
|
|
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg)
|
rs199577321
|
0.00004
|
|
NM_000257.4(MYH7):c.3168G>C (p.Glu1056Asp)
|
rs747198710
|
0.00004
|
|
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)
|
rs768393069
|
0.00004
|
|
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=)
|
rs45523835
|
0.00004
|
|
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=)
|
rs754295295
|
0.00004
|
|
NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu)
|
rs767000995
|
0.00004
|
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
|
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)
|
rs578166720
|
0.00004
|
|
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)
|
rs730880808
|
0.00004
|
|
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr)
|
rs145822086
|
0.00004
|
|
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)
|
rs397516233
|
0.00004
|
|
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)
|
rs139222507
|
0.00004
|
|
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln)
|
rs371855540
|
0.00004
|
|
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)
|
rs727503242
|
0.00004
|
|
NM_000257.4(MYH7):c.924C>T (p.Tyr308=)
|
rs762065412
|
0.00004
|
|
NM_001130965.3(SUN1):c.1210G>A (p.Ala404Thr)
|
rs757340477
|
0.00004
|
|
NM_001130965.3(SUN1):c.1372C>G (p.Gln458Glu)
|
rs547404802
|
0.00004
|
|
NM_001130965.3(SUN1):c.1390A>G (p.Ile464Val)
|
rs199915497
|
0.00004
|
|
NM_001130965.3(SUN1):c.1455A>G (p.Leu485=)
|
rs1025148320
|
0.00004
|
|
NM_001130965.3(SUN1):c.1683C>T (p.Asn561=)
|
rs775680958
|
0.00004
|
|
NM_001130965.3(SUN1):c.180G>A (p.Thr60=)
|
rs775796501
|
0.00004
|
|
NM_001130965.3(SUN1):c.1902C>T (p.Tyr634=)
|
rs770512687
|
0.00004
|
|
NM_001130965.3(SUN1):c.1923G>A (p.Met641Ile)
|
rs750658890
|
0.00004
|
|
NM_001130965.3(SUN1):c.2010A>G (p.Ala670=)
|
rs765841616
|
0.00004
|
|
NM_001130965.3(SUN1):c.220G>A (p.Asp74Asn)
|
rs374767640
|
0.00004
|
|
NM_001130965.3(SUN1):c.2227A>G (p.Met743Val)
|
rs368333285
|
0.00004
|
|
NM_001130965.3(SUN1):c.2238C>T (p.Ala746=)
|
rs199630068
|
0.00004
|
|
NM_001130965.3(SUN1):c.389G>A (p.Arg130Gln)
|
rs781471011
|
0.00004
|
|
NM_001130965.3(SUN1):c.408C>T (p.Asp136=)
|
rs575219579
|
0.00004
|
|
NM_001130965.3(SUN1):c.72G>A (p.Ala24=)
|
rs560089031
|
0.00004
|
|
NM_001130965.3(SUN1):c.873G>A (p.Lys291=)
|
rs373974517
|
0.00004
|
|
NM_001159699.2(FHL1):c.243C>T (p.Cys81=)
|
rs777580253
|
0.00004
|
|
NM_001159699.2(FHL1):c.380-16T>C
|
rs772665517
|
0.00004
|
|
NM_001159699.2(FHL1):c.651C>T (p.Thr217=)
|
rs370597064
|
0.00004
|
|
NM_001159699.2(FHL1):c.737-10T>C
|
rs767421819
|
0.00004
|
|
NM_001159699.2(FHL1):c.737-5C>A
|
rs771803774
|
0.00004
|
|
NM_001159702.3(FHL1):c.-101+3A>G
|
rs895540444
|
0.00004
|
|
NM_015374.3(SUN2):c.1135C>T (p.Arg379Trp)
|
rs372953657
|
0.00004
|
|
NM_015374.3(SUN2):c.1257C>T (p.Ala419=)
|
rs377483966
|
0.00004
|
|
NM_015374.3(SUN2):c.1301C>T (p.Ser434Leu)
|
rs990153882
|
0.00004
|
|
NM_015374.3(SUN2):c.1344C>T (p.Ala448=)
|
rs763054336
|
0.00004
|
|
NM_015374.3(SUN2):c.1394T>A (p.Leu465His)
|
rs751880061
|
0.00004
|
|
NM_015374.3(SUN2):c.1541C>T (p.Thr514Met)
|
rs567532014
|
0.00004
|
|
NM_015374.3(SUN2):c.1613G>A (p.Arg538His)
|
rs539760038
|
0.00004
|
|
NM_015374.3(SUN2):c.1732G>A (p.Gly578Ser)
|
rs750800615
|
0.00004
|
|
NM_015374.3(SUN2):c.1948-13G>A
|
rs768318554
|
0.00004
|
|
NM_015374.3(SUN2):c.2028G>A (p.Thr676=)
|
rs775107257
|
0.00004
|
|
NM_015374.3(SUN2):c.624G>A (p.Ser208=)
|
rs747299144
|
0.00004
|
|
NM_015374.3(SUN2):c.763A>C (p.Arg255=)
|
rs781191176
|
0.00004
|
|
NM_015374.3(SUN2):c.800C>T (p.Ser267Leu)
|
rs200092509
|
0.00004
|
|
NM_015374.3(SUN2):c.854G>A (p.Arg285Gln)
|
rs760591672
|
0.00004
|
|
NM_015374.3(SUN2):c.910C>T (p.Arg304Trp)
|
rs199636823
|
0.00004
|
|
NM_015374.3(SUN2):c.911G>A (p.Arg304Gln)
|
rs372788944
|
0.00004
|
|
NM_015374.3(SUN2):c.919C>T (p.Arg307Cys)
|
rs758857415
|
0.00004
|
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
|
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter)
|
rs1423539317
|
0.00004
|
|
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter)
|
rs147336367
|
0.00004
|
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
|
NM_170707.4(LMNA):c.1196G>A (p.Arg399His)
|
rs267607563
|
0.00004
|
|
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)
|
rs755686359
|
0.00004
|
|
NM_170707.4(LMNA):c.1299C>T (p.His433=)
|
rs61217436
|
0.00004
|
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
|
NM_170707.4(LMNA):c.1664A>G (p.Asp555Gly)
|
rs141578711
|
0.00004
|
|
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)
|
rs368386019
|
0.00004
|
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
|
NM_170707.4(LMNA):c.467G>A (p.Arg156His)
|
rs764475194
|
0.00004
|
|
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser)
|
rs760388350
|
0.00004
|
|
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364
|
0.00004
|
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
|
NM_182914.3(SYNE2):c.1014A>G (p.Ser338=)
|
rs1205640366
|
0.00004
|
|
NM_182914.3(SYNE2):c.10432-17T>G
|
rs376299946
|
0.00004
|
|
NM_182914.3(SYNE2):c.10556A>G (p.Glu3519Gly)
|
rs75146753
|
0.00004
|
|
NM_182914.3(SYNE2):c.10721A>G (p.Asn3574Ser)
|
rs755972675
|
0.00004
|
|
NM_182914.3(SYNE2):c.10770A>G (p.Lys3590=)
|
rs200301350
|
0.00004
|
|
NM_182914.3(SYNE2):c.10844C>T (p.Pro3615Leu)
|
rs549458287
|
0.00004
|
|
NM_182914.3(SYNE2):c.11108A>G (p.Glu3703Gly)
|
rs763363520
|
0.00004
|
|
NM_182914.3(SYNE2):c.11665G>A (p.Ala3889Thr)
|
rs759802358
|
0.00004
|
|
NM_182914.3(SYNE2):c.11867T>C (p.Leu3956Ser)
|
rs746480532
|
0.00004
|
|
NM_182914.3(SYNE2):c.12151C>G (p.Gln4051Glu)
|
rs149546014
|
0.00004
|
|
NM_182914.3(SYNE2):c.12189C>T (p.Thr4063=)
|
rs372251838
|
0.00004
|
|
NM_182914.3(SYNE2):c.12192A>G (p.Val4064=)
|
rs374645403
|
0.00004
|
|
NM_182914.3(SYNE2):c.12238A>G (p.Arg4080Gly)
|
rs769301000
|
0.00004
|
|
NM_182914.3(SYNE2):c.12492+12C>T
|
rs368374335
|
0.00004
|
|
NM_182914.3(SYNE2):c.12547C>T (p.Pro4183Ser)
|
rs751766809
|
0.00004
|
|
NM_182914.3(SYNE2):c.12600A>G (p.Gln4200=)
|
rs189167925
|
0.00004
|
|
NM_182914.3(SYNE2):c.12660A>G (p.Gln4220=)
|
rs745820221
|
0.00004
|
|
NM_182914.3(SYNE2):c.12783G>A (p.Pro4261=)
|
rs373978139
|
0.00004
|
|
NM_182914.3(SYNE2):c.12991A>T (p.Met4331Leu)
|
rs144392904
|
0.00004
|
|
NM_182914.3(SYNE2):c.13021C>G (p.Gln4341Glu)
|
rs367698099
|
0.00004
|
|
NM_182914.3(SYNE2):c.13159-7A>G
|
rs759110381
|
0.00004
|
|
NM_182914.3(SYNE2):c.13281-6C>T
|
rs376973894
|
0.00004
|
|
NM_182914.3(SYNE2):c.13308C>T (p.Asp4436=)
|
rs201277635
|
0.00004
|
|
NM_182914.3(SYNE2):c.13452C>T (p.Ser4484=)
|
rs138084733
|
0.00004
|
|
NM_182914.3(SYNE2):c.13525C>T (p.Arg4509Cys)
|
rs752451899
|
0.00004
|
|
NM_182914.3(SYNE2):c.13814A>C (p.Glu4605Ala)
|
rs766721405
|
0.00004
|
|
NM_182914.3(SYNE2):c.13907G>A (p.Arg4636His)
|
rs752745004
|
0.00004
|
|
NM_182914.3(SYNE2):c.13917+10C>T
|
rs760288753
|
0.00004
|
|
NM_182914.3(SYNE2):c.13918-17C>T
|
rs201636300
|
0.00004
|
|
NM_182914.3(SYNE2):c.14047G>A (p.Glu4683Lys)
|
rs146157227
|
0.00004
|
|
NM_182914.3(SYNE2):c.14052C>T (p.Asn4684=)
|
rs755641355
|
0.00004
|
|
NM_182914.3(SYNE2):c.14071A>G (p.Lys4691Glu)
|
rs143798878
|
0.00004
|
|
NM_182914.3(SYNE2):c.14140-14T>C
|
rs745639925
|
0.00004
|
|
NM_182914.3(SYNE2):c.14239A>G (p.Met4747Val)
|
rs759983332
|
0.00004
|
|
NM_182914.3(SYNE2):c.14313G>A (p.Ala4771=)
|
rs148690779
|
0.00004
|
|
NM_182914.3(SYNE2):c.14479C>T (p.Arg4827Cys)
|
rs146052780
|
0.00004
|
|
NM_182914.3(SYNE2):c.14827C>T (p.Leu4943Phe)
|
rs150137142
|
0.00004
|
|
NM_182914.3(SYNE2):c.15028A>G (p.Ser5010Gly)
|
rs754937863
|
0.00004
|
|
NM_182914.3(SYNE2):c.15130C>T (p.Leu5044Phe)
|
rs551007724
|
0.00004
|
|
NM_182914.3(SYNE2):c.1598C>T (p.Ala533Val)
|
rs371740578
|
0.00004
|
|
NM_182914.3(SYNE2):c.16024G>A (p.Gly5342Ser)
|
rs34541826
|
0.00004
|
|
NM_182914.3(SYNE2):c.16194C>T (p.Ala5398=)
|
rs764264884
|
0.00004
|
|
NM_182914.3(SYNE2):c.16310A>G (p.His5437Arg)
|
rs202122347
|
0.00004
|
|
NM_182914.3(SYNE2):c.16313A>G (p.Asp5438Gly)
|
rs374348890
|
0.00004
|
|
NM_182914.3(SYNE2):c.16671G>C (p.Lys5557Asn)
|
rs777646941
|
0.00004
|
|
NM_182914.3(SYNE2):c.16848C>T (p.Leu5616=)
|
rs375802845
|
0.00004
|
|
NM_182914.3(SYNE2):c.17140C>T (p.Arg5714Cys)
|
rs375246083
|
0.00004
|
|
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His)
|
rs200137127
|
0.00004
|
|
NM_182914.3(SYNE2):c.17188G>A (p.Glu5730Lys)
|
rs368540403
|
0.00004
|
|
NM_182914.3(SYNE2):c.17236-16C>T
|
rs372327611
|
0.00004
|
|
NM_182914.3(SYNE2):c.17321T>C (p.Leu5774Pro)
|
rs756967024
|
0.00004
|
|
NM_182914.3(SYNE2):c.17504A>G (p.Asp5835Gly)
|
rs147097998
|
0.00004
|
|
NM_182914.3(SYNE2):c.17713G>A (p.Val5905Met)
|
rs778679729
|
0.00004
|
|
NM_182914.3(SYNE2):c.17892C>T (p.Asn5964=)
|
rs201827003
|
0.00004
|
|
NM_182914.3(SYNE2):c.17959T>C (p.Ser5987Pro)
|
rs772035517
|
0.00004
|
|
NM_182914.3(SYNE2):c.18037A>C (p.Arg6013=)
|
rs375971416
|
0.00004
|
|
NM_182914.3(SYNE2):c.18317T>C (p.Ile6106Thr)
|
rs144624224
|
0.00004
|
|
NM_182914.3(SYNE2):c.1844T>C (p.Phe615Ser)
|
rs369877790
|
0.00004
|
|
NM_182914.3(SYNE2):c.18641G>A (p.Arg6214Lys)
|
rs200152990
|
0.00004
|
|
NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser)
|
rs199566869
|
0.00004
|
|
NM_182914.3(SYNE2):c.1908C>T (p.Val636=)
|
rs201309132
|
0.00004
|
|
NM_182914.3(SYNE2):c.19153G>A (p.Glu6385Lys)
|
rs374948516
|
0.00004
|
|
NM_182914.3(SYNE2):c.1919A>G (p.Asn640Ser)
|
rs111890751
|
0.00004
|
|
NM_182914.3(SYNE2):c.19269C>T (p.Gly6423=)
|
rs145411822
|
0.00004
|
|
NM_182914.3(SYNE2):c.19333+7G>A
|
rs779312321
|
0.00004
|
|
NM_182914.3(SYNE2):c.19478T>C (p.Met6493Thr)
|
rs138514714
|
0.00004
|
|
NM_182914.3(SYNE2):c.19726T>C (p.Leu6576=)
|
rs772308280
|
0.00004
|
|
NM_182914.3(SYNE2):c.19861-5G>C
|
rs182600079
|
0.00004
|
|
NM_182914.3(SYNE2):c.20045C>T (p.Ser6682Leu)
|
rs201256334
|
0.00004
|
|
NM_182914.3(SYNE2):c.20061+5G>A
|
rs774599138
|
0.00004
|
|
NM_182914.3(SYNE2):c.20206C>G (p.Leu6736Val)
|
rs779852124
|
0.00004
|
|
NM_182914.3(SYNE2):c.2023A>G (p.Ile675Val)
|
rs199854951
|
0.00004
|
|
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys)
|
rs201472187
|
0.00004
|
|
NM_182914.3(SYNE2):c.2296A>G (p.Met766Val)
|
rs556342048
|
0.00004
|
|
NM_182914.3(SYNE2):c.2347C>T (p.Leu783Phe)
|
rs766796829
|
0.00004
|
|
NM_182914.3(SYNE2):c.2781+5G>A
|
rs371516053
|
0.00004
|
|
NM_182914.3(SYNE2):c.2858T>A (p.Ile953Asn)
|
rs756623151
|
0.00004
|
|
NM_182914.3(SYNE2):c.2902C>T (p.Arg968Cys)
|
rs758515221
|
0.00004
|
|
NM_182914.3(SYNE2):c.2933A>G (p.Glu978Gly)
|
rs769589509
|
0.00004
|
|
NM_182914.3(SYNE2):c.3054A>C (p.Leu1018=)
|
rs751740731
|
0.00004
|
|
NM_182914.3(SYNE2):c.3143C>T (p.Ser1048Leu)
|
rs763314715
|
0.00004
|
|
NM_182914.3(SYNE2):c.3408G>T (p.Arg1136Ser)
|
rs762347655
|
0.00004
|
|
NM_182914.3(SYNE2):c.3639-12C>T
|
rs750618626
|
0.00004
|
|
NM_182914.3(SYNE2):c.3665G>A (p.Arg1222Gln)
|
rs370747910
|
0.00004
|
|
NM_182914.3(SYNE2):c.4423A>G (p.Lys1475Glu)
|
rs761080544
|
0.00004
|
|
NM_182914.3(SYNE2):c.5294A>T (p.Glu1765Val)
|
rs558820427
|
0.00004
|
|
NM_182914.3(SYNE2):c.5423C>G (p.Thr1808Ser)
|
rs780659094
|
0.00004
|
|
NM_182914.3(SYNE2):c.5540T>G (p.Phe1847Cys)
|
rs182807926
|
0.00004
|
|
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu)
|
rs201327410
|
0.00004
|
|
NM_182914.3(SYNE2):c.5637+13T>A
|
rs138898760
|
0.00004
|
|
NM_182914.3(SYNE2):c.5742C>T (p.Ile1914=)
|
rs755138752
|
0.00004
|
|
NM_182914.3(SYNE2):c.5987T>C (p.Leu1996Ser)
|
rs780750526
|
0.00004
|
|
NM_182914.3(SYNE2):c.6714+17A>G
|
rs910718478
|
0.00004
|
|
NM_182914.3(SYNE2):c.6736G>A (p.Gly2246Ser)
|
rs774737023
|
0.00004
|
|
NM_182914.3(SYNE2):c.7146C>A (p.Ala2382=)
|
rs1463651183
|
0.00004
|
|
NM_182914.3(SYNE2):c.7222-9G>A
|
rs373161954
|
0.00004
|
|
NM_182914.3(SYNE2):c.7399G>A (p.Ala2467Thr)
|
rs752492583
|
0.00004
|
|
NM_182914.3(SYNE2):c.7481T>C (p.Ile2494Thr)
|
rs377113182
|
0.00004
|
|
NM_182914.3(SYNE2):c.7816G>A (p.Gly2606Ser)
|
rs201069405
|
0.00004
|
|
NM_182914.3(SYNE2):c.7830G>A (p.Val2610=)
|
rs371302175
|
0.00004
|
|
NM_182914.3(SYNE2):c.8148G>T (p.Leu2716Phe)
|
rs529012269
|
0.00004
|
|
NM_182914.3(SYNE2):c.8484A>G (p.Gln2828=)
|
rs747556170
|
0.00004
|
|
NM_182914.3(SYNE2):c.8786G>A (p.Arg2929Lys)
|
rs1177149020
|
0.00004
|
|
NM_182914.3(SYNE2):c.8890C>T (p.Arg2964Cys)
|
rs199665519
|
0.00004
|
|
NM_182914.3(SYNE2):c.8967C>T (p.Thr2989=)
|
rs781153107
|
0.00004
|
|
NM_182914.3(SYNE2):c.9057A>G (p.Gln3019=)
|
rs367619644
|
0.00004
|
|
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe)
|
rs886044254
|
0.00004
|
|
NM_182914.3(SYNE2):c.9691C>T (p.Arg3231Cys)
|
rs546650178
|
0.00004
|
|
NM_182914.3(SYNE2):c.9976A>C (p.Lys3326Gln)
|
rs747991604
|
0.00004
|
|
NM_182961.4(SYNE1):c.10257T>C (p.His3419=)
|
rs147631683
|
0.00004
|
|
NM_182961.4(SYNE1):c.10597C>T (p.Arg3533Cys)
|
rs776816480
|
0.00004
|
|
NM_182961.4(SYNE1):c.10658T>C (p.Leu3553Pro)
|
rs774759366
|
0.00004
|
|
NM_182961.4(SYNE1):c.11246C>T (p.Thr3749Met)
|
rs778034684
|
0.00004
|
|
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=)
|
rs569973824
|
0.00004
|
|
NM_182961.4(SYNE1):c.11302C>T (p.Arg3768Trp)
|
rs371013745
|
0.00004
|
|
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg)
|
rs780693119
|
0.00004
|
|
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)
|
rs76410834
|
0.00004
|
|
NM_182961.4(SYNE1):c.11506C>G (p.Gln3836Glu)
|
rs780637080
|
0.00004
|
|
NM_182961.4(SYNE1):c.11589A>C (p.Gln3863His)
|
rs190032752
|
0.00004
|
|
NM_182961.4(SYNE1):c.12007A>G (p.Lys4003Glu)
|
rs772000149
|
0.00004
|
|
NM_182961.4(SYNE1):c.12099C>T (p.His4033=)
|
rs375862387
|
0.00004
|
|
NM_182961.4(SYNE1):c.12182C>T (p.Pro4061Leu)
|
rs148036239
|
0.00004
|
|
NM_182961.4(SYNE1):c.12436C>T (p.Leu4146=)
|
rs777433973
|
0.00004
|
|
NM_182961.4(SYNE1):c.12476G>A (p.Arg4159Lys)
|
rs762119902
|
0.00004
|
|
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val)
|
rs150409035
|
0.00004
|
|
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)
|
rs139075013
|
0.00004
|
|
NM_182961.4(SYNE1):c.13431G>A (p.Met4477Ile)
|
rs1007433720
|
0.00004
|
|
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His)
|
rs148248006
|
0.00004
|
|
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys)
|
rs371375804
|
0.00004
|
|
NM_182961.4(SYNE1):c.1428A>G (p.Pro476=)
|
rs778574491
|
0.00004
|
|
NM_182961.4(SYNE1):c.14291G>A (p.Arg4764Gln)
|
rs745701031
|
0.00004
|
|
NM_182961.4(SYNE1):c.1453A>G (p.Met485Val)
|
rs767978898
|
0.00004
|
|
NM_182961.4(SYNE1):c.1458C>T (p.Ala486=)
|
rs373091521
|
0.00004
|
|
NM_182961.4(SYNE1):c.14671A>G (p.Thr4891Ala)
|
rs534678815
|
0.00004
|
|
NM_182961.4(SYNE1):c.14890G>A (p.Glu4964Lys)
|
rs780258342
|
0.00004
|
|
NM_182961.4(SYNE1):c.14976T>C (p.Tyr4992=)
|
rs935200376
|
0.00004
|
|
NM_182961.4(SYNE1):c.1497C>T (p.His499=)
|
rs758555741
|
0.00004
|
|
NM_182961.4(SYNE1):c.14984G>A (p.Cys4995Tyr)
|
rs765800192
|
0.00004
|
|
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met)
|
rs199996504
|
0.00004
|
|
NM_182961.4(SYNE1):c.15510G>A (p.Glu5170=)
|
rs763638514
|
0.00004
|
|
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys)
|
rs757086609
|
0.00004
|
|
NM_182961.4(SYNE1):c.15918-12A>G
|
rs606231134
|
0.00004
|
|
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met)
|
rs202105931
|
0.00004
|
|
NM_182961.4(SYNE1):c.16229G>A (p.Arg5410Gln)
|
rs776100963
|
0.00004
|
|
NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=)
|
rs779112403
|
0.00004
|
|
NM_182961.4(SYNE1):c.1632+6T>C
|
rs758756977
|
0.00004
|
|
NM_182961.4(SYNE1):c.16350G>A (p.Ala5450=)
|
rs768673070
|
0.00004
|
|
NM_182961.4(SYNE1):c.16390-11T>C
|
rs765234446
|
0.00004
|
|
NM_182961.4(SYNE1):c.16868G>A (p.Arg5623His)
|
rs753544584
|
0.00004
|
|
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp)
|
rs202171698
|
0.00004
|
|
NM_182961.4(SYNE1):c.17141G>A (p.Arg5714Gln)
|
rs367925174
|
0.00004
|
|
NM_182961.4(SYNE1):c.17322G>T (p.Leu5774=)
|
rs752995421
|
0.00004
|
|
NM_182961.4(SYNE1):c.1737A>G (p.Glu579=)
|
rs199673388
|
0.00004
|
|
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val)
|
rs763218931
|
0.00004
|
|
NM_182961.4(SYNE1):c.17650C>T (p.Pro5884Ser)
|
rs767508394
|
0.00004
|
|
NM_182961.4(SYNE1):c.17780C>T (p.Pro5927Leu)
|
rs145085256
|
0.00004
|
|
NM_182961.4(SYNE1):c.17825G>A (p.Arg5942His)
|
rs746220387
|
0.00004
|
|
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp)
|
rs200209279
|
0.00004
|
|
NM_182961.4(SYNE1):c.1861A>G (p.Thr621Ala)
|
rs146618884
|
0.00004
|
|
NM_182961.4(SYNE1):c.18628C>T (p.Pro6210Ser)
|
rs868377407
|
0.00004
|
|
NM_182961.4(SYNE1):c.18630C>T (p.Pro6210=)
|
rs1022996215
|
0.00004
|
|
NM_182961.4(SYNE1):c.18815+16C>T
|
rs369215013
|
0.00004
|
|
NM_182961.4(SYNE1):c.18871G>A (p.Ala6291Thr)
|
rs143594709
|
0.00004
|
|
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=)
|
rs369626489
|
0.00004
|
|
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys)
|
rs143554730
|
0.00004
|
|
NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln)
|
rs774558249
|
0.00004
|
|
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile)
|
rs563568189
|
0.00004
|
|
NM_182961.4(SYNE1):c.20169C>T (p.Asp6723=)
|
rs367936675
|
0.00004
|
|
NM_182961.4(SYNE1):c.20449C>T (p.Arg6817Trp)
|
rs140903556
|
0.00004
|
|
NM_182961.4(SYNE1):c.20556A>G (p.Gln6852=)
|
rs147173664
|
0.00004
|
|
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile)
|
rs769943110
|
0.00004
|
|
NM_182961.4(SYNE1):c.21095A>G (p.Gln7032Arg)
|
rs752508132
|
0.00004
|
|
NM_182961.4(SYNE1):c.21249G>T (p.Gln7083His)
|
rs777155965
|
0.00004
|
|
NM_182961.4(SYNE1):c.21285C>T (p.Asp7095=)
|
rs768886911
|
0.00004
|
|
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser)
|
rs778441411
|
0.00004
|
|
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met)
|
rs377449974
|
0.00004
|
|
NM_182961.4(SYNE1):c.22044+11C>G
|
rs751070924
|
0.00004
|
|
NM_182961.4(SYNE1):c.22164A>G (p.Thr7388=)
|
rs774480374
|
0.00004
|
|
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His)
|
rs776733924
|
0.00004
|
|
NM_182961.4(SYNE1):c.22547T>C (p.Ile7516Thr)
|
rs190781696
|
0.00004
|
|
NM_182961.4(SYNE1):c.23051A>T (p.Asp7684Val)
|
rs139077054
|
0.00004
|
|
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=)
|
rs200800604
|
0.00004
|
|
NM_182961.4(SYNE1):c.23589C>T (p.Asn7863=)
|
rs753421656
|
0.00004
|
|
NM_182961.4(SYNE1):c.23742C>T (p.Tyr7914=)
|
rs781192759
|
0.00004
|
|
NM_182961.4(SYNE1):c.23962A>G (p.Met7988Val)
|
rs746456193
|
0.00004
|
|
NM_182961.4(SYNE1):c.24130-7G>T
|
rs368697044
|
0.00004
|
|
NM_182961.4(SYNE1):c.24338T>G (p.Phe8113Cys)
|
rs769930534
|
0.00004
|
|
NM_182961.4(SYNE1):c.2440T>C (p.Leu814=)
|
rs368201364
|
0.00004
|
|
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn)
|
rs267600861
|
0.00004
|
|
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)
|
rs201548223
|
0.00004
|
|
NM_182961.4(SYNE1):c.24780G>A (p.Ser8260=)
|
rs766320378
|
0.00004
|
|
NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln)
|
rs200137670
|
0.00004
|
|
NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln)
|
rs369073682
|
0.00004
|
|
NM_182961.4(SYNE1):c.24977-1719A>G
|
rs202030113
|
0.00004
|
|
NM_182961.4(SYNE1):c.25069C>T (p.Arg8357Cys)
|
rs755199419
|
0.00004
|
|
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=)
|
rs369691475
|
0.00004
|
|
NM_182961.4(SYNE1):c.25213G>T (p.Val8405Phe)
|
rs757463285
|
0.00004
|
|
NM_182961.4(SYNE1):c.25241C>T (p.Thr8414Met)
|
rs759512753
|
0.00004
|
|
NM_182961.4(SYNE1):c.25916G>A (p.Gly8639Glu)
|
rs191807870
|
0.00004
|
|
NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=)
|
rs746159592
|
0.00004
|
|
NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=)
|
rs770690488
|
0.00004
|
|
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu)
|
rs747635401
|
0.00004
|
|
NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=)
|
rs201891399
|
0.00004
|
|
NM_182961.4(SYNE1):c.2893-13C>T
|
rs148337270
|
0.00004
|
|
NM_182961.4(SYNE1):c.3099C>T (p.Ala1033=)
|
rs201752079
|
0.00004
|
|
NM_182961.4(SYNE1):c.3186+4C>T
|
rs747984490
|
0.00004
|
|
NM_182961.4(SYNE1):c.3435A>T (p.Thr1145=)
|
rs759359527
|
0.00004
|
|
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)
|
rs149415204
|
0.00004
|
|
NM_182961.4(SYNE1):c.3497C>T (p.Ala1166Val)
|
rs765122984
|
0.00004
|
|
NM_182961.4(SYNE1):c.3525C>T (p.Thr1175=)
|
rs761360867
|
0.00004
|
|
NM_182961.4(SYNE1):c.3647C>T (p.Ala1216Val)
|
rs200629713
|
0.00004
|
|
NM_182961.4(SYNE1):c.3670-4A>G
|
rs377058395
|
0.00004
|
|
NM_182961.4(SYNE1):c.3933C>A (p.His1311Gln)
|
rs774093065
|
0.00004
|
|
NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp)
|
rs200763530
|
0.00004
|
|
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln)
|
rs201144728
|
0.00004
|
|
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala)
|
rs377718960
|
0.00004
|
|
NM_182961.4(SYNE1):c.4274A>T (p.Glu1425Val)
|
rs767783076
|
0.00004
|
|
NM_182961.4(SYNE1):c.4552G>C (p.Glu1518Gln)
|
rs760544014
|
0.00004
|
|
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln)
|
rs369775705
|
0.00004
|
|
NM_182961.4(SYNE1):c.462C>T (p.Ser154=)
|
rs761939786
|
0.00004
|
|
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=)
|
rs187410988
|
0.00004
|
|
NM_182961.4(SYNE1):c.509G>A (p.Arg170Gln)
|
rs779239788
|
0.00004
|
|
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys)
|
rs540091060
|
0.00004
|
|
NM_182961.4(SYNE1):c.5413C>T (p.Arg1805Trp)
|
rs763781396
|
0.00004
|
|
NM_182961.4(SYNE1):c.5417A>G (p.His1806Arg)
|
rs779891217
|
0.00004
|
|
NM_182961.4(SYNE1):c.590G>A (p.Gly197Glu)
|
rs150249753
|
0.00004
|
|
NM_182961.4(SYNE1):c.6289G>C (p.Ala2097Pro)
|
rs375773340
|
0.00004
|
|
NM_182961.4(SYNE1):c.6537G>A (p.Leu2179=)
|
rs138725794
|
0.00004
|
|
NM_182961.4(SYNE1):c.7064A>G (p.Asn2355Ser)
|
rs377180714
|
0.00004
|
|
NM_182961.4(SYNE1):c.7485G>A (p.Glu2495=)
|
rs901474571
|
0.00004
|
|
NM_182961.4(SYNE1):c.7755T>C (p.Ser2585=)
|
rs759690937
|
0.00004
|
|
NM_182961.4(SYNE1):c.780C>T (p.Asp260=)
|
rs376480815
|
0.00004
|
|
NM_182961.4(SYNE1):c.8169C>T (p.His2723=)
|
rs371449580
|
0.00004
|
|
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro)
|
rs757960938
|
0.00004
|
|
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr)
|
rs770907182
|
0.00004
|
|
NM_182961.4(SYNE1):c.8653-19T>C
|
rs376539357
|
0.00004
|
|
NM_182961.4(SYNE1):c.888+4G>C
|
rs749258298
|
0.00004
|
|
NM_182961.4(SYNE1):c.9123T>C (p.Ser3041=)
|
rs139593613
|
0.00004
|
|
NM_182961.4(SYNE1):c.9651+19C>T
|
rs543352190
|
0.00004
|
|
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu)
|
rs368607560
|
0.00004
|
|
NM_182961.4(SYNE1):c.9834C>T (p.Ile3278=)
|
rs142241062
|
0.00004
|
|
NM_000117.3(EMD):c.110A>T (p.Lys37Met)
|
rs1085307681
|
0.00003
|
|
NM_000117.3(EMD):c.173C>T (p.Ser58Phe)
|
rs781797234
|
0.00003
|
|
NM_000117.3(EMD):c.234G>A (p.Lys78=)
|
rs781889152
|
0.00003
|
|
NM_000117.3(EMD):c.243C>T (p.Asp81=)
|
rs150757295
|
0.00003
|
|
NM_000117.3(EMD):c.267C>G (p.Gly89=)
|
rs1201464258
|
0.00003
|
|
NM_000117.3(EMD):c.361G>A (p.Val121Met)
|
rs2067880161
|
0.00003
|
|
NM_000117.3(EMD):c.390C>T (p.Phe130=)
|
rs781952981
|
0.00003
|
|
NM_000117.3(EMD):c.399+10C>T
|
rs375654959
|
0.00003
|
|
NM_000117.3(EMD):c.39C>A (p.Thr13=)
|
rs1352660201
|
0.00003
|
|
NM_000117.3(EMD):c.400-20G>A
|
rs782354948
|
0.00003
|
|
NM_000117.3(EMD):c.412G>A (p.Asp138Asn)
|
rs782737897
|
0.00003
|
|
NM_000117.3(EMD):c.449+5G>A
|
rs370840449
|
0.00003
|
|
NM_000117.3(EMD):c.469C>T (p.Arg157Trp)
|
rs782431693
|
0.00003
|
|
NM_000117.3(EMD):c.502C>T (p.Arg168Cys)
|
rs886044839
|
0.00003
|
|
NM_000117.3(EMD):c.671C>T (p.Pro224Leu)
|
rs782559230
|
0.00003
|
|
NM_000117.3(EMD):c.672G>A (p.Pro224=)
|
rs1267603257
|
0.00003
|
|
NM_000117.3(EMD):c.677G>C (p.Trp226Ser)
|
rs141732118
|
0.00003
|
|
NM_000117.3(EMD):c.714C>T (p.Val238=)
|
rs782290874
|
0.00003
|
|
NM_000257.4(MYH7):c.1608G>A (p.Glu536=)
|
rs397516115
|
0.00003
|
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
|
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)
|
rs886039030
|
0.00003
|
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
|
NM_000257.4(MYH7):c.3100-2A>C
|
rs759013925
|
0.00003
|
|
NM_000257.4(MYH7):c.3779G>A (p.Arg1260Gln)
|
rs747308839
|
0.00003
|
|
NM_000257.4(MYH7):c.4872G>A (p.Glu1624=)
|
rs766561921
|
0.00003
|
|
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr)
|
rs565663412
|
0.00003
|
|
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys)
|
rs45511396
|
0.00003
|
|
NM_000257.4(MYH7):c.540C>A (p.Ser180=)
|
rs369490861
|
0.00003
|
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
|
NM_000257.4(MYH7):c.639+5G>T
|
rs765724983
|
0.00003
|
|
NM_000257.4(MYH7):c.895+12C>T
|
rs186276057
|
0.00003
|
|
NM_001130965.3(SUN1):c.1025C>T (p.Thr342Met)
|
rs544208812
|
0.00003
|
|
NM_001130965.3(SUN1):c.1053+8G>T
|
rs750944051
|
0.00003
|
|
NM_001130965.3(SUN1):c.1239C>T (p.Asp413=)
|
rs373058985
|
0.00003
|
|
NM_001130965.3(SUN1):c.1326G>T (p.Leu442=)
|
rs375435638
|
0.00003
|
|
NM_001130965.3(SUN1):c.1420A>C (p.Thr474Pro)
|
rs781596220
|
0.00003
|
|
NM_001130965.3(SUN1):c.1854G>C (p.Leu618=)
|
rs544613266
|
0.00003
|
|
NM_001130965.3(SUN1):c.1903G>A (p.Glu635Lys)
|
rs376317036
|
0.00003
|
|
NM_001130965.3(SUN1):c.386C>T (p.Thr129Ile)
|
rs199937447
|
0.00003
|
|
NM_001130965.3(SUN1):c.48G>A (p.Pro16=)
|
rs774055457
|
0.00003
|
|
NM_001130965.3(SUN1):c.948G>A (p.Ser316=)
|
rs776253918
|
0.00003
|
|
NM_001159699.2(FHL1):c.248G>A (p.Arg83His)
|
rs745544703
|
0.00003
|
|
NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr)
|
rs139625615
|
0.00003
|
|
NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr)
|
rs756434530
|
0.00003
|
|
NM_001159699.2(FHL1):c.379+4C>T
|
rs769453769
|
0.00003
|
|
NM_001159699.2(FHL1):c.549+7T>G
|
rs771700018
|
0.00003
|
|
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=)
|
rs755385158
|
0.00003
|
|
NM_001159699.2(FHL1):c.816C>T (p.Ser272=)
|
rs758552293
|
0.00003
|
|
NM_001159699.2(FHL1):c.832A>G (p.Lys278Glu)
|
rs749265329
|
0.00003
|
|
NM_001159699.2(FHL1):c.834G>A (p.Lys278=)
|
rs200510559
|
0.00003
|
|
NM_015374.3(SUN2):c.1068+7G>A
|
rs373080183
|
0.00003
|
|
NM_015374.3(SUN2):c.1069-9G>A
|
rs779944981
|
0.00003
|
|
NM_015374.3(SUN2):c.147C>T (p.Asn49=)
|
rs769644853
|
0.00003
|
|
NM_015374.3(SUN2):c.1663+4C>T
|
rs367645117
|
0.00003
|
|
NM_015374.3(SUN2):c.1734C>T (p.Gly578=)
|
rs537241816
|
0.00003
|
|
NM_015374.3(SUN2):c.1831G>A (p.Ala611Thr)
|
rs754499171
|
0.00003
|
|
NM_015374.3(SUN2):c.2058G>A (p.Thr686=)
|
rs140261344
|
0.00003
|
|
NM_015374.3(SUN2):c.2103C>T (p.Pro701=)
|
rs748074497
|
0.00003
|
|
NM_015374.3(SUN2):c.231G>C (p.Glu77Asp)
|
rs760297349
|
0.00003
|
|
NM_015374.3(SUN2):c.243A>C (p.Pro81=)
|
rs745316329
|
0.00003
|
|
NM_015374.3(SUN2):c.362G>A (p.Arg121His)
|
rs200211836
|
0.00003
|
|
NM_015374.3(SUN2):c.458C>T (p.Ser153Leu)
|
rs374690791
|
0.00003
|
|
NM_015374.3(SUN2):c.604G>A (p.Val202Ile)
|
rs751598721
|
0.00003
|
|
NM_015374.3(SUN2):c.636G>A (p.Thr212=)
|
rs200221237
|
0.00003
|
|
NM_015374.3(SUN2):c.681G>A (p.Thr227=)
|
rs754563807
|
0.00003
|
|
NM_015374.3(SUN2):c.990G>A (p.Ala330=)
|
rs749535489
|
0.00003
|
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
|
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)
|
rs140347235
|
0.00003
|
|
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)
|
rs730880225
|
0.00003
|
|
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)
|
rs139842014
|
0.00003
|
|
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)
|
rs757651177
|
0.00003
|
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
|
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)
|
rs58105277
|
0.00003
|
|
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln)
|
rs61177390
|
0.00003
|
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
|
NM_170707.4(LMNA):c.1256G>A (p.Arg419His)
|
rs777648901
|
0.00003
|
|
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)
|
rs368542816
|
0.00003
|
|
NM_170707.4(LMNA):c.1380+18G>A
|
rs777846700
|
0.00003
|
|
NM_170707.4(LMNA):c.1381-13A>G
|
rs750192865
|
0.00003
|
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
|
NM_170707.4(LMNA):c.1756G>A (p.Val586Met)
|
rs758048062
|
0.00003
|
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982
|
0.00003
|
|
NM_182914.3(SYNE2):c.*305G>T
|
rs886050605
|
0.00003
|
|
NM_182914.3(SYNE2):c.10164G>A (p.Ser3388=)
|
rs772208833
|
0.00003
|
|
NM_182914.3(SYNE2):c.10327G>A (p.Val3443Met)
|
rs564182126
|
0.00003
|
|
NM_182914.3(SYNE2):c.10393G>A (p.Glu3465Lys)
|
rs376654106
|
0.00003
|
|
NM_182914.3(SYNE2):c.10424G>A (p.Ser3475Asn)
|
rs769912217
|
0.00003
|
|
NM_182914.3(SYNE2):c.10454T>C (p.Leu3485Ser)
|
rs533363453
|
0.00003
|
|
NM_182914.3(SYNE2):c.10460A>C (p.Asn3487Thr)
|
rs776293614
|
0.00003
|
|
NM_182914.3(SYNE2):c.10639G>T (p.Ala3547Ser)
|
rs1198798280
|
0.00003
|
|
NM_182914.3(SYNE2):c.10947G>A (p.Met3649Ile)
|
rs772140514
|
0.00003
|
|
NM_182914.3(SYNE2):c.11323T>A (p.Cys3775Ser)
|
rs753899883
|
0.00003
|
|
NM_182914.3(SYNE2):c.11336A>G (p.Gln3779Arg)
|
rs538884693
|
0.00003
|
|
NM_182914.3(SYNE2):c.11441A>G (p.Tyr3814Cys)
|
rs780583186
|
0.00003
|
|
NM_182914.3(SYNE2):c.12465T>C (p.Ala4155=)
|
rs1367399695
|
0.00003
|
|
NM_182914.3(SYNE2):c.12529A>G (p.Met4177Val)
|
rs772354856
|
0.00003
|
|
NM_182914.3(SYNE2):c.12657G>A (p.Ala4219=)
|
rs76668149
|
0.00003
|
|
NM_182914.3(SYNE2):c.12856A>C (p.Ile4286Leu)
|
rs763081757
|
0.00003
|
|
NM_182914.3(SYNE2):c.13524G>C (p.Leu4508=)
|
rs373702093
|
0.00003
|
|
NM_182914.3(SYNE2):c.13670A>G (p.Tyr4557Cys)
|
rs1215002631
|
0.00003
|
|
NM_182914.3(SYNE2):c.13689C>T (p.Gly4563=)
|
rs186567969
|
0.00003
|
|
NM_182914.3(SYNE2):c.13709C>T (p.Thr4570Met)
|
rs199750072
|
0.00003
|
|
NM_182914.3(SYNE2):c.13855G>T (p.Ala4619Ser)
|
rs374462333
|
0.00003
|
|
NM_182914.3(SYNE2):c.13861G>A (p.Ala4621Thr)
|
rs745357432
|
0.00003
|
|
NM_182914.3(SYNE2):c.14044C>T (p.Leu4682=)
|
rs184218195
|
0.00003
|
|
NM_182914.3(SYNE2):c.14225C>T (p.Ala4742Val)
|
rs373034895
|
0.00003
|
|
NM_182914.3(SYNE2):c.14400A>G (p.Ile4800Met)
|
rs368522050
|
0.00003
|
|
NM_182914.3(SYNE2):c.14701G>A (p.Glu4901Lys)
|
rs766116136
|
0.00003
|
|
NM_182914.3(SYNE2):c.14962A>G (p.Ile4988Val)
|
rs912250826
|
0.00003
|
|
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu)
|
rs747348017
|
0.00003
|
|
NM_182914.3(SYNE2):c.15253G>A (p.Val5085Met)
|
rs144471413
|
0.00003
|
|
NM_182914.3(SYNE2):c.15749G>A (p.Arg5250Gln)
|
rs201962497
|
0.00003
|
|
NM_182914.3(SYNE2):c.15792G>C (p.Gln5264His)
|
rs368363575
|
0.00003
|
|
NM_182914.3(SYNE2):c.16094+4T>A
|
rs769120290
|
0.00003
|
|
NM_182914.3(SYNE2):c.16109A>C (p.Asn5370Thr)
|
rs760687493
|
0.00003
|
|
NM_182914.3(SYNE2):c.16480-10C>G
|
rs768388576
|
0.00003
|
|
NM_182914.3(SYNE2):c.16737G>A (p.Thr5579=)
|
rs147156341
|
0.00003
|
|
NM_182914.3(SYNE2):c.16857T>C (p.Asp5619=)
|
rs370160896
|
0.00003
|
|
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln)
|
rs554186246
|
0.00003
|
|
NM_182914.3(SYNE2):c.17172T>C (p.Ser5724=)
|
rs761070657
|
0.00003
|
|
NM_182914.3(SYNE2):c.17177T>C (p.Val5726Ala)
|
rs944538946
|
0.00003
|
|
NM_182914.3(SYNE2):c.17235+5T>C
|
rs777252251
|
0.00003
|
|
NM_182914.3(SYNE2):c.17444G>A (p.Cys5815Tyr)
|
rs143784708
|
0.00003
|
|
NM_182914.3(SYNE2):c.17692T>C (p.Trp5898Arg)
|
rs147971588
|
0.00003
|
|
NM_182914.3(SYNE2):c.18104G>A (p.Arg6035His)
|
rs963291095
|
0.00003
|
|
NM_182914.3(SYNE2):c.18231C>T (p.Ser6077=)
|
rs747245462
|
0.00003
|
|
NM_182914.3(SYNE2):c.18273G>A (p.Leu6091=)
|
rs1051308118
|
0.00003
|
|
NM_182914.3(SYNE2):c.18315G>A (p.Ser6105=)
|
rs202084149
|
0.00003
|
|
NM_182914.3(SYNE2):c.18379C>T (p.Arg6127Trp)
|
rs368136441
|
0.00003
|
|
NM_182914.3(SYNE2):c.18407G>A (p.Arg6136His)
|
rs761163756
|
0.00003
|
|
NM_182914.3(SYNE2):c.18440G>A (p.Arg6147His)
|
rs761124507
|
0.00003
|
|
NM_182914.3(SYNE2):c.18566G>A (p.Arg6189Gln)
|
rs751450273
|
0.00003
|
|
NM_182914.3(SYNE2):c.18724-14C>A
|
rs1294405956
|
0.00003
|
|
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=)
|
rs757232346
|
0.00003
|
|
NM_182914.3(SYNE2):c.19204G>A (p.Glu6402Lys)
|
rs200971467
|
0.00003
|
|
NM_182914.3(SYNE2):c.19394C>T (p.Ala6465Val)
|
rs762635611
|
0.00003
|
|
NM_182914.3(SYNE2):c.19609C>G (p.Pro6537Ala)
|
rs570564199
|
0.00003
|
|
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys)
|
rs35763782
|
0.00003
|
|
NM_182914.3(SYNE2):c.20028A>G (p.Arg6676=)
|
rs759606978
|
0.00003
|
|
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln)
|
rs761684738
|
0.00003
|
|
NM_182914.3(SYNE2):c.20050A>G (p.Met6684Val)
|
rs1489141038
|
0.00003
|
|
NM_182914.3(SYNE2):c.2016A>G (p.Pro672=)
|
rs1277454250
|
0.00003
|
|
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys)
|
rs138789938
|
0.00003
|
|
NM_182914.3(SYNE2):c.20314A>G (p.Ile6772Val)
|
rs566278939
|
0.00003
|
|
NM_182914.3(SYNE2):c.2333C>G (p.Ser778Cys)
|
rs186652746
|
0.00003
|
|
NM_182914.3(SYNE2):c.242G>A (p.Arg81Gln)
|
rs756729566
|
0.00003
|
|
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys)
|
rs763133096
|
0.00003
|
|
NM_182914.3(SYNE2):c.2663C>T (p.Ser888Phe)
|
rs763645041
|
0.00003
|
|
NM_182914.3(SYNE2):c.2680G>A (p.Ala894Thr)
|
rs752011037
|
0.00003
|
|
NM_182914.3(SYNE2):c.27C>T (p.Thr9=)
|
rs755131989
|
0.00003
|
|
NM_182914.3(SYNE2):c.3917C>A (p.Thr1306Lys)
|
rs749834245
|
0.00003
|
|
NM_182914.3(SYNE2):c.418C>G (p.Leu140Val)
|
rs761503203
|
0.00003
|
|
NM_182914.3(SYNE2):c.4513G>A (p.Val1505Met)
|
rs542064510
|
0.00003
|
|
NM_182914.3(SYNE2):c.4587A>G (p.Gln1529=)
|
rs774411048
|
0.00003
|
|
NM_182914.3(SYNE2):c.4742A>C (p.Lys1581Thr)
|
rs746066706
|
0.00003
|
|
NM_182914.3(SYNE2):c.4748A>T (p.Glu1583Val)
|
rs775635485
|
0.00003
|
|
NM_182914.3(SYNE2):c.5098G>A (p.Val1700Met)
|
rs372345929
|
0.00003
|
|
NM_182914.3(SYNE2):c.5159A>C (p.Glu1720Ala)
|
rs1013597826
|
0.00003
|
|
NM_182914.3(SYNE2):c.5174A>G (p.Asn1725Ser)
|
rs200554446
|
0.00003
|
|
NM_182914.3(SYNE2):c.57C>T (p.Asp19=)
|
rs749130552
|
0.00003
|
|
NM_182914.3(SYNE2):c.590+20C>T
|
rs747991198
|
0.00003
|
|
NM_182914.3(SYNE2):c.5958G>A (p.Lys1986=)
|
rs747338096
|
0.00003
|
|
NM_182914.3(SYNE2):c.6064T>C (p.Tyr2022His)
|
rs1264331455
|
0.00003
|
|
NM_182914.3(SYNE2):c.6183A>G (p.Lys2061=)
|
rs758892069
|
0.00003
|
|
NM_182914.3(SYNE2):c.6329C>T (p.Pro2110Leu)
|
rs770940744
|
0.00003
|
|
NM_182914.3(SYNE2):c.6880-4G>A
|
rs776756586
|
0.00003
|
|
NM_182914.3(SYNE2):c.7071C>A (p.Leu2357=)
|
rs750860738
|
0.00003
|
|
NM_182914.3(SYNE2):c.7222-12T>C
|
rs370855587
|
0.00003
|
|
NM_182914.3(SYNE2):c.7254A>G (p.Gln2418=)
|
rs984046422
|
0.00003
|
|
NM_182914.3(SYNE2):c.728G>T (p.Arg243Ile)
|
rs768193199
|
0.00003
|
|
NM_182914.3(SYNE2):c.8474G>A (p.Arg2825Lys)
|
rs748757670
|
0.00003
|
|
NM_182914.3(SYNE2):c.8841A>G (p.Gln2947=)
|
rs375616798
|
0.00003
|
|
NM_182914.3(SYNE2):c.8849A>C (p.Glu2950Ala)
|
rs540706990
|
0.00003
|
|
NM_182914.3(SYNE2):c.8856A>G (p.Thr2952=)
|
rs542751414
|
0.00003
|
|
NM_182914.3(SYNE2):c.8905C>G (p.Leu2969Val)
|
rs773914389
|
0.00003
|
|
NM_182914.3(SYNE2):c.8968G>A (p.Ala2990Thr)
|
rs748085293
|
0.00003
|
|
NM_182914.3(SYNE2):c.9001C>G (p.Leu3001Val)
|
rs771518864
|
0.00003
|
|
NM_182914.3(SYNE2):c.9124G>C (p.Glu3042Gln)
|
rs1364501437
|
0.00003
|
|
NM_182914.3(SYNE2):c.9252C>T (p.Ala3084=)
|
rs200061977
|
0.00003
|
|
NM_182961.4(SYNE1):c.-361G>T
|
rs886061221
|
0.00003
|
|
NM_182961.4(SYNE1):c.10188T>G (p.Asp3396Glu)
|
rs374839445
|
0.00003
|
|
NM_182961.4(SYNE1):c.10268G>A (p.Arg3423Gln)
|
rs139691734
|
0.00003
|
|
NM_182961.4(SYNE1):c.10284G>T (p.Met3428Ile)
|
rs755180412
|
0.00003
|
|
NM_182961.4(SYNE1):c.10584T>G (p.His3528Gln)
|
rs192623867
|
0.00003
|
|
NM_182961.4(SYNE1):c.10726C>T (p.Arg3576Trp)
|
rs777447487
|
0.00003
|
|
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile)
|
rs201487756
|
0.00003
|
|
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=)
|
rs138882800
|
0.00003
|
|
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln)
|
rs774322624
|
0.00003
|
|
NM_182961.4(SYNE1):c.11395G>A (p.Glu3799Lys)
|
rs879779013
|
0.00003
|
|
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=)
|
rs767967824
|
0.00003
|
|
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=)
|
rs760332489
|
0.00003
|
|
NM_182961.4(SYNE1):c.11902-15G>A
|
rs777796940
|
0.00003
|
|
NM_182961.4(SYNE1):c.12114C>T (p.His4038=)
|
rs200294294
|
0.00003
|
|
NM_182961.4(SYNE1):c.12122G>A (p.Arg4041Gln)
|
rs771461121
|
0.00003
|
|
NM_182961.4(SYNE1):c.12351G>A (p.Thr4117=)
|
rs1272129870
|
0.00003
|
|
NM_182961.4(SYNE1):c.12388C>G (p.Gln4130Glu)
|
rs779969031
|
0.00003
|
|
NM_182961.4(SYNE1):c.12471G>A (p.Lys4157=)
|
rs1014589530
|
0.00003
|
|
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=)
|
rs143851739
|
0.00003
|
|
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=)
|
rs760209358
|
0.00003
|
|
NM_182961.4(SYNE1):c.13436G>A (p.Arg4479His)
|
rs768085752
|
0.00003
|
|
NM_182961.4(SYNE1):c.13458A>G (p.Pro4486=)
|
rs998856849
|
0.00003
|
|
NM_182961.4(SYNE1):c.13727A>G (p.His4576Arg)
|
rs375344467
|
0.00003
|
|
NM_182961.4(SYNE1):c.13896G>A (p.Ser4632=)
|
rs1371756749
|
0.00003
|
|
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His)
|
rs748256440
|
0.00003
|
|
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His)
|
rs199673397
|
0.00003
|
|
NM_182961.4(SYNE1):c.14033C>T (p.Ser4678Phe)
|
rs753473819
|
0.00003
|
|
NM_182961.4(SYNE1):c.14103C>T (p.Pro4701=)
|
rs772247507
|
0.00003
|
|
NM_182961.4(SYNE1):c.14847G>C (p.Lys4949Asn)
|
rs762502490
|
0.00003
|
|
NM_182961.4(SYNE1):c.14990G>A (p.Arg4997Lys)
|
rs755654863
|
0.00003
|
|
NM_182961.4(SYNE1):c.15063T>C (p.Asn5021=)
|
rs1376958261
|
0.00003
|
|
NM_182961.4(SYNE1):c.15414G>A (p.Ala5138=)
|
rs746436040
|
0.00003
|
|
NM_182961.4(SYNE1):c.15489G>A (p.Glu5163=)
|
rs750155092
|
0.00003
|
|
NM_182961.4(SYNE1):c.15608A>G (p.Glu5203Gly)
|
rs375432465
|
0.00003
|
|
NM_182961.4(SYNE1):c.15794A>G (p.Gln5265Arg)
|
rs797046023
|
0.00003
|
|
NM_182961.4(SYNE1):c.15986A>C (p.Glu5329Ala)
|
rs886044412
|
0.00003
|
|
NM_182961.4(SYNE1):c.16026G>A (p.Thr5342=)
|
rs776275832
|
0.00003
|
|
NM_182961.4(SYNE1):c.16132G>T (p.Ala5378Ser)
|
rs374220794
|
0.00003
|
|
NM_182961.4(SYNE1):c.16212G>A (p.Ala5404=)
|
rs150928921
|
0.00003
|
|
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro)
|
rs373679435
|
0.00003
|
|
NM_182961.4(SYNE1):c.17270C>T (p.Ala5757Val)
|
rs766395351
|
0.00003
|
|
NM_182961.4(SYNE1):c.17451G>A (p.Thr5817=)
|
rs769954729
|
0.00003
|
|
NM_182961.4(SYNE1):c.17577G>A (p.Pro5859=)
|
rs375662583
|
0.00003
|
|
NM_182961.4(SYNE1):c.17682+1G>A
|
rs1064796579
|
0.00003
|
|
NM_182961.4(SYNE1):c.17758G>A (p.Ala5920Thr)
|
rs765300968
|
0.00003
|
|
NM_182961.4(SYNE1):c.17774A>G (p.Tyr5925Cys)
|
rs759380758
|
0.00003
|
|
NM_182961.4(SYNE1):c.18013-16A>G
|
rs1057523334
|
0.00003
|
|
NM_182961.4(SYNE1):c.18194G>A (p.Arg6065Gln)
|
rs777432650
|
0.00003
|
|
NM_182961.4(SYNE1):c.18363C>T (p.Ala6121=)
|
rs758953542
|
0.00003
|
|
NM_182961.4(SYNE1):c.18460G>T (p.Gly6154Cys)
|
rs528094877
|
0.00003
|
|
NM_182961.4(SYNE1):c.18609C>T (p.Asp6203=)
|
rs577804095
|
0.00003
|
|
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu)
|
rs558425673
|
0.00003
|
|
NM_182961.4(SYNE1):c.18631G>A (p.Gly6211Ser)
|
rs149624155
|
0.00003
|
|
NM_182961.4(SYNE1):c.18675G>A (p.Gln6225=)
|
rs373495185
|
0.00003
|
|
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp)
|
rs201873107
|
0.00003
|
|
NM_182961.4(SYNE1):c.18769G>A (p.Glu6257Lys)
|
rs551488589
|
0.00003
|
|
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)
|
rs759556319
|
0.00003
|
|
NM_182961.4(SYNE1):c.19022G>C (p.Gly6341Ala)
|
rs769384397
|
0.00003
|
|
NM_182961.4(SYNE1):c.19083C>T (p.Ala6361=)
|
rs374088995
|
0.00003
|
|
NM_182961.4(SYNE1):c.19138G>A (p.Glu6380Lys)
|
rs758159968
|
0.00003
|
|
NM_182961.4(SYNE1):c.19180T>C (p.Leu6394=)
|
rs372723292
|
0.00003
|
|
NM_182961.4(SYNE1):c.19242T>C (p.Thr6414=)
|
rs749942439
|
0.00003
|
|
NM_182961.4(SYNE1):c.1943G>A (p.Arg648Gln)
|
rs768605521
|
0.00003
|
|
NM_182961.4(SYNE1):c.19481A>C (p.Lys6494Thr)
|
rs763051329
|
0.00003
|
|
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met)
|
rs553508431
|
0.00003
|
|
NM_182961.4(SYNE1):c.19807G>C (p.Glu6603Gln)
|
rs140360127
|
0.00003
|
|
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)
|
rs143118084
|
0.00003
|
|
NM_182961.4(SYNE1):c.20164G>A (p.Glu6722Lys)
|
rs370571896
|
0.00003
|
|
NM_182961.4(SYNE1):c.20183G>A (p.Arg6728His)
|
rs139384691
|
0.00003
|
|
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His)
|
rs767684007
|
0.00003
|
|
NM_182961.4(SYNE1):c.20937T>C (p.Ser6979=)
|
rs762665527
|
0.00003
|
|
NM_182961.4(SYNE1):c.21189C>G (p.Asp7063Glu)
|
rs139062689
|
0.00003
|
|
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu)
|
rs766914765
|
0.00003
|
|
NM_182961.4(SYNE1):c.21430A>G (p.Ser7144Gly)
|
rs759479600
|
0.00003
|
|
NM_182961.4(SYNE1):c.21474G>A (p.Leu7158=)
|
rs370065996
|
0.00003
|
|
NM_182961.4(SYNE1):c.21862-19A>T
|
rs200421014
|
0.00003
|
|
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=)
|
rs750669148
|
0.00003
|
|
NM_182961.4(SYNE1):c.2224G>A (p.Val742Ile)
|
rs777920461
|
0.00003
|
|
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His)
|
rs752057121
|
0.00003
|
|
NM_182961.4(SYNE1):c.22645C>T (p.Arg7549Cys)
|
rs549357903
|
0.00003
|
|
NM_182961.4(SYNE1):c.22663C>T (p.Arg7555Trp)
|
rs755302191
|
0.00003
|
|
NM_182961.4(SYNE1):c.22807C>G (p.Leu7603Val)
|
rs372246112
|
0.00003
|
|
NM_182961.4(SYNE1):c.22873G>C (p.Val7625Leu)
|
rs749743156
|
0.00003
|
|
NM_182961.4(SYNE1):c.23137C>T (p.Arg7713Cys)
|
rs761198027
|
0.00003
|
|
NM_182961.4(SYNE1):c.23302-8C>T
|
rs376491803
|
0.00003
|
|
NM_182961.4(SYNE1):c.23582A>G (p.Lys7861Arg)
|
rs371656793
|
0.00003
|
|
NM_182961.4(SYNE1):c.23593C>T (p.Arg7865Trp)
|
rs749900550
|
0.00003
|
|
NM_182961.4(SYNE1):c.2386C>G (p.Leu796Val)
|
rs1055043180
|
0.00003
|
|
NM_182961.4(SYNE1):c.23875G>A (p.Ala7959Thr)
|
rs780029496
|
0.00003
|
|
NM_182961.4(SYNE1):c.2394+5G>A
|
rs199933019
|
0.00003
|
|
NM_182961.4(SYNE1):c.23978+10G>A
|
rs377131754
|
0.00003
|
|
NM_182961.4(SYNE1):c.24038A>G (p.Asp8013Gly)
|
rs766207775
|
0.00003
|
|
NM_182961.4(SYNE1):c.24129+2T>C
|
rs544985182
|
0.00003
|
|
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=)
|
rs185088779
|
0.00003
|
|
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys)
|
rs375917264
|
0.00003
|
|
NM_182961.4(SYNE1):c.24226T>C (p.Cys8076Arg)
|
rs756023993
|
0.00003
|
|
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys)
|
rs373016793
|
0.00003
|
|
NM_182961.4(SYNE1):c.24390G>A (p.Gln8130=)
|
rs768084185
|
0.00003
|
|
NM_182961.4(SYNE1):c.24499A>G (p.Ile8167Val)
|
rs147285387
|
0.00003
|
|
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp)
|
rs772761179
|
0.00003
|
|
NM_182961.4(SYNE1):c.2474C>T (p.Thr825Met)
|
rs777634676
|
0.00003
|
|
NM_182961.4(SYNE1):c.2475G>A (p.Thr825=)
|
rs758181903
|
0.00003
|
|
NM_182961.4(SYNE1):c.24779C>T (p.Ser8260Leu)
|
rs188852595
|
0.00003
|
|
NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr)
|
rs886043013
|
0.00003
|
|
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys)
|
rs527527845
|
0.00003
|
|
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu)
|
rs748328529
|
0.00003
|
|
NM_182961.4(SYNE1):c.25135G>A (p.Glu8379Lys)
|
rs531559372
|
0.00003
|
|
NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=)
|
rs758276004
|
0.00003
|
|
NM_182961.4(SYNE1):c.25983C>T (p.Asp8661=)
|
rs781435849
|
0.00003
|
|
NM_182961.4(SYNE1):c.2759A>G (p.Lys920Arg)
|
rs1395937709
|
0.00003
|
|
NM_182961.4(SYNE1):c.310-449A>T
|
rs759834506
|
0.00003
|
|
NM_182961.4(SYNE1):c.3404A>C (p.Glu1135Ala)
|
rs764928878
|
0.00003
|
|
NM_182961.4(SYNE1):c.3429T>C (p.Asn1143=)
|
rs142372677
|
0.00003
|
|
NM_182961.4(SYNE1):c.3480C>T (p.His1160=)
|
rs757238055
|
0.00003
|
|
NM_182961.4(SYNE1):c.3587C>T (p.Ser1196Phe)
|
rs886061212
|
0.00003
|
|
NM_182961.4(SYNE1):c.3691T>C (p.Phe1231Leu)
|
rs146403390
|
0.00003
|
|
NM_182961.4(SYNE1):c.3897G>C (p.Ala1299=)
|
rs753027544
|
0.00003
|
|
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala)
|
rs141164314
|
0.00003
|
|
NM_182961.4(SYNE1):c.4125A>T (p.Leu1375Phe)
|
rs544182159
|
0.00003
|
|
NM_182961.4(SYNE1):c.4257G>T (p.Gln1419His)
|
rs142705233
|
0.00003
|
|
NM_182961.4(SYNE1):c.4670T>G (p.Phe1557Cys)
|
rs373642960
|
0.00003
|
|
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val)
|
rs138691290
|
0.00003
|
|
NM_182961.4(SYNE1):c.4909G>A (p.Glu1637Lys)
|
rs148885424
|
0.00003
|
|
NM_182961.4(SYNE1):c.495C>A (p.Ser165Arg)
|
rs567913785
|
0.00003
|
|
NM_182961.4(SYNE1):c.5491G>T (p.Gly1831Cys)
|
rs184779168
|
0.00003
|
|
NM_182961.4(SYNE1):c.581+17T>G
|
rs747720370
|
0.00003
|
|
NM_182961.4(SYNE1):c.581+8T>C
|
rs772647830
|
0.00003
|
|
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro)
|
rs376518010
|
0.00003
|
|
NM_182961.4(SYNE1):c.6382-11T>C
|
rs769649824
|
0.00003
|
|
NM_182961.4(SYNE1):c.6522C>T (p.Thr2174=)
|
rs202207841
|
0.00003
|
|
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile)
|
rs372524102
|
0.00003
|
|
NM_182961.4(SYNE1):c.7277A>C (p.Lys2426Thr)
|
rs764200857
|
0.00003
|
|
NM_182961.4(SYNE1):c.7304G>A (p.Arg2435His)
|
rs759461786
|
0.00003
|
|
NM_182961.4(SYNE1):c.7324C>A (p.Leu2442Ile)
|
rs747633088
|
0.00003
|
|
NM_182961.4(SYNE1):c.7878C>T (p.His2626=)
|
rs138196409
|
0.00003
|
|
NM_182961.4(SYNE1):c.7989G>T (p.Arg2663=)
|
rs1268841274
|
0.00003
|
|
NM_182961.4(SYNE1):c.8056G>A (p.Gly2686Ser)
|
rs146916975
|
0.00003
|
|
NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr)
|
rs371025400
|
0.00003
|
|
NM_182961.4(SYNE1):c.8691C>T (p.Leu2897=)
|
rs368356217
|
0.00003
|
|
NM_182961.4(SYNE1):c.9093A>G (p.Arg3031=)
|
rs149317945
|
0.00003
|
|
NM_182961.4(SYNE1):c.9114A>G (p.Gly3038=)
|
rs754978329
|
0.00003
|
|
NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln)
|
rs747634832
|
0.00003
|
|
NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=)
|
rs1020832262
|
0.00003
|
|
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys)
|
rs1024177161
|
0.00003
|
|
NM_182961.4(SYNE1):c.9959C>T (p.Thr3320Met)
|
rs548283137
|
0.00003
|
|
NM_000117.3(EMD):c.137G>A (p.Arg46Gln)
|
rs941514119
|
0.00002
|
|
NM_000117.3(EMD):c.148C>T (p.Pro50Ser)
|
rs781936763
|
0.00002
|
|
NM_000117.3(EMD):c.188-13C>T
|
rs782141516
|
0.00002
|
|
NM_000117.3(EMD):c.241G>A (p.Asp81Asn)
|
rs141138209
|
0.00002
|
|
NM_000117.3(EMD):c.276C>T (p.Asp92=)
|
rs782680849
|
0.00002
|
|
NM_000117.3(EMD):c.333C>T (p.Ala111=)
|
rs782216150
|
0.00002
|
|
NM_000117.3(EMD):c.353G>A (p.Arg118His)
|
rs782201984
|
0.00002
|
|
NM_000117.3(EMD):c.422C>T (p.Ser141Phe)
|
rs1262954618
|
0.00002
|
|
NM_000117.3(EMD):c.449+10G>C
|
rs782467790
|
0.00002
|
|
NM_000117.3(EMD):c.572T>C (p.Met191Thr)
|
rs782244432
|
0.00002
|
|
NM_000117.3(EMD):c.610C>T (p.Arg204Cys)
|
rs782299893
|
0.00002
|
|
NM_000117.3(EMD):c.611G>A (p.Arg204His)
|
rs782642152
|
0.00002
|
|
NM_000117.3(EMD):c.618C>T (p.Ile206=)
|
rs782496874
|
0.00002
|
|
NM_000117.3(EMD):c.632G>A (p.Arg211His)
|
rs782596223
|
0.00002
|
|
NM_000117.3(EMD):c.662G>T (p.Arg221Leu)
|
rs782057378
|
0.00002
|
|
NM_000117.3(EMD):c.704T>C (p.Phe235Ser)
|
rs782627156
|
0.00002
|
|
NM_000117.3(EMD):c.717C>T (p.Leu239=)
|
rs782369799
|
0.00002
|
|
NM_000117.3(EMD):c.82+17G>A
|
rs1198190299
|
0.00002
|
|
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)
|
rs121913640
|
0.00002
|
|
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val)
|
rs752349938
|
0.00002
|
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
|
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val)
|
rs369935820
|
0.00002
|
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
|
NM_000257.4(MYH7):c.2868T>C (p.Asp956=)
|
rs140718120
|
0.00002
|
|
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)
|
rs779973529
|
0.00002
|
|
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn)
|
rs755392435
|
0.00002
|
|
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe)
|
rs201012865
|
0.00002
|
|
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)
|
rs373231077
|
0.00002
|
|
NM_000257.4(MYH7):c.4134C>T (p.Asp1378=)
|
rs770630028
|
0.00002
|
|
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)
|
rs150552664
|
0.00002
|
|
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)
|
rs376854724
|
0.00002
|
|
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser)
|
rs730880913
|
0.00002
|
|
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)
|
rs150241539
|
0.00002
|
|
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)
|
rs1195157116
|
0.00002
|
|
NM_000257.4(MYH7):c.4953+14G>A
|
rs758571263
|
0.00002
|
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
|
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)
|
rs397516246
|
0.00002
|
|
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)
|
rs369940645
|
0.00002
|
|
NM_000257.4(MYH7):c.5470A>G (p.Asn1824Asp)
|
rs769112519
|
0.00002
|
|
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)
|
rs187073962
|
0.00002
|
|
NM_000257.4(MYH7):c.733-3C>T
|
rs765068619
|
0.00002
|
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
|
NM_001130965.3(SUN1):c.1092C>T (p.Gly364=)
|
rs777887455
|
0.00002
|
|
NM_001130965.3(SUN1):c.1229C>T (p.Ser410Leu)
|
rs963866352
|
0.00002
|
|
NM_001130965.3(SUN1):c.1296A>G (p.Glu432=)
|
rs761026434
|
0.00002
|
|
NM_001130965.3(SUN1):c.1525-18C>T
|
rs768301493
|
0.00002
|
|
NM_001130965.3(SUN1):c.1659C>T (p.Asp553=)
|
rs752578715
|
0.00002
|
|
NM_001130965.3(SUN1):c.1780-8C>T
|
rs755436273
|
0.00002
|
|
NM_001130965.3(SUN1):c.1941G>A (p.Pro647=)
|
rs199720270
|
0.00002
|
|
NM_001130965.3(SUN1):c.1958A>G (p.Gln653Arg)
|
rs573186073
|
0.00002
|
|
NM_001130965.3(SUN1):c.1959G>A (p.Gln653=)
|
rs745489333
|
0.00002
|
|
NM_001130965.3(SUN1):c.2034G>T (p.Leu678=)
|
rs1160213850
|
0.00002
|
|
NM_001130965.3(SUN1):c.2142C>T (p.Ala714=)
|
rs561697837
|
0.00002
|
|
NM_001130965.3(SUN1):c.345C>T (p.Gly115=)
|
rs538774385
|
0.00002
|
|
NM_001130965.3(SUN1):c.525C>T (p.Ala175=)
|
rs368543045
|
0.00002
|
|
NM_001130965.3(SUN1):c.555C>G (p.Cys185Trp)
|
rs776947421
|
0.00002
|
|
NM_001130965.3(SUN1):c.5A>C (p.Asp2Ala)
|
rs199693265
|
0.00002
|
|
NM_001130965.3(SUN1):c.720G>A (p.Thr240=)
|
rs186121469
|
0.00002
|
|
NM_001130965.3(SUN1):c.885G>C (p.Leu295Phe)
|
rs187616677
|
0.00002
|
|
NM_001159699.2(FHL1):c.161A>G (p.Asn54Ser)
|
rs886043917
|
0.00002
|
|
NM_001159699.2(FHL1):c.179G>A (p.Arg60His)
|
rs11557264
|
0.00002
|
|
NM_001159699.2(FHL1):c.204+18G>T
|
rs764595951
|
0.00002
|
|
NM_001159699.2(FHL1):c.205-9G>C
|
rs1178092343
|
0.00002
|
|
NM_001159699.2(FHL1):c.215A>G (p.Tyr72Cys)
|
rs758269641
|
0.00002
|
|
NM_001159699.2(FHL1):c.247C>T (p.Arg83Cys)
|
rs1379221574
|
0.00002
|
|
NM_001159699.2(FHL1):c.284C>A (p.Thr95Asn)
|
rs764567944
|
0.00002
|
|
NM_001159699.2(FHL1):c.391G>T (p.Val131Leu)
|
rs374479477
|
0.00002
|
|
NM_001159699.2(FHL1):c.447G>A (p.Lys149=)
|
rs768142579
|
0.00002
|
|
NM_001159699.2(FHL1):c.534C>T (p.Cys178=)
|
rs377693754
|
0.00002
|
|
NM_001159699.2(FHL1):c.545A>G (p.Asn182Ser)
|
rs1569530504
|
0.00002
|
|
NM_001159699.2(FHL1):c.573T>G (p.Thr191=)
|
rs2073910530
|
0.00002
|
|
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg)
|
rs1230410861
|
0.00002
|
|
NM_001159699.2(FHL1):c.612T>C (p.Cys204=)
|
rs752193492
|
0.00002
|
|
NM_001159699.2(FHL1):c.644G>A (p.Arg215His)
|
rs886043053
|
0.00002
|
|
NM_001159699.2(FHL1):c.737-12_737-8del
|
rs761074507
|
0.00002
|
|
NM_001159699.2(FHL1):c.809A>G (p.Lys270Arg)
|
rs768705041
|
0.00002
|
|
NM_001159699.2(FHL1):c.856C>G (p.Gln286Glu)
|
rs747922027
|
0.00002
|
|
NM_015374.3(SUN2):c.1061G>A (p.Arg354His)
|
rs1240205767
|
0.00002
|
|
NM_015374.3(SUN2):c.1136G>A (p.Arg379Gln)
|
rs763323157
|
0.00002
|
|
NM_015374.3(SUN2):c.1238G>A (p.Arg413Gln)
|
rs748611243
|
0.00002
|
|
NM_015374.3(SUN2):c.1349G>A (p.Arg450Gln)
|
rs1371797768
|
0.00002
|
|
NM_015374.3(SUN2):c.1416C>T (p.Arg472=)
|
rs199929528
|
0.00002
|
|
NM_015374.3(SUN2):c.1467G>C (p.Glu489Asp)
|
rs148038201
|
0.00002
|
|
NM_015374.3(SUN2):c.168G>A (p.Ala56=)
|
rs561928372
|
0.00002
|
|
NM_015374.3(SUN2):c.1712C>T (p.Thr571Met)
|
rs752150588
|
0.00002
|
|
NM_015374.3(SUN2):c.1785T>A (p.Asp595Glu)
|
rs770892695
|
0.00002
|
|
NM_015374.3(SUN2):c.1879G>C (p.Glu627Gln)
|
rs769627673
|
0.00002
|
|
NM_015374.3(SUN2):c.1997C>T (p.Thr666Ile)
|
rs755259603
|
0.00002
|
|
NM_015374.3(SUN2):c.304C>T (p.Arg102Trp)
|
rs146324000
|
0.00002
|
|
NM_015374.3(SUN2):c.333G>A (p.Glu111=)
|
rs772494839
|
0.00002
|
|
NM_015374.3(SUN2):c.420C>T (p.Tyr140=)
|
rs201604103
|
0.00002
|
|
NM_015374.3(SUN2):c.425-3C>A
|
rs368321480
|
0.00002
|
|
NM_015374.3(SUN2):c.516G>A (p.Ser172=)
|
rs545823498
|
0.00002
|
|
NM_015374.3(SUN2):c.542A>G (p.Tyr181Cys)
|
rs776343176
|
0.00002
|
|
NM_015374.3(SUN2):c.583G>C (p.Ala195Pro)
|
rs778335481
|
0.00002
|
|
NM_015374.3(SUN2):c.615-2A>G
|
rs1272584066
|
0.00002
|
|
NM_015374.3(SUN2):c.633G>A (p.Lys211=)
|
rs1347064197
|
0.00002
|
|
NM_015374.3(SUN2):c.741C>T (p.Ser247=)
|
rs1342698251
|
0.00002
|
|
NM_015374.3(SUN2):c.817G>A (p.Glu273Lys)
|
rs747536298
|
0.00002
|
|
NM_015374.3(SUN2):c.824G>A (p.Arg275His)
|
rs780349096
|
0.00002
|
|
NM_015374.3(SUN2):c.931C>T (p.Arg311Trp)
|
rs764150835
|
0.00002
|
|
NM_024334.3(TMEM43):c.1000+5G>T
|
rs376589026
|
0.00002
|
|
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)
|
rs397517386
|
0.00002
|
|
NM_170707.4(LMNA):c.-109G>T
|
rs886045360
|
0.00002
|
|
NM_170707.4(LMNA):c.-1C>A
|
rs886043355
|
0.00002
|
|
NM_170707.4(LMNA):c.-44T>A
|
rs1185731069
|
0.00002
|
|
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu)
|
rs61693978
|
0.00002
|
|
NM_170707.4(LMNA):c.1190G>A (p.Arg397His)
|
rs747952058
|
0.00002
|
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
|
NM_170707.4(LMNA):c.1608+10C>T
|
rs748917147
|
0.00002
|
|
NM_170707.4(LMNA):c.1698+57G>A
|
rs557334569
|
0.00002
|
|
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)
|
rs59601651
|
0.00002
|
|
NM_170707.4(LMNA):c.1857T>C (p.Ser619=)
|
rs368581237
|
0.00002
|
|
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)
|
rs777841827
|
0.00002
|
|
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter)
|
rs267607544
|
0.00002
|
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
|
NM_170707.4(LMNA):c.294G>A (p.Glu98=)
|
rs886045363
|
0.00002
|
|
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)
|
rs886045364
|
0.00002
|
|
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)
|
rs766856162
|
0.00002
|
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
|
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys)
|
rs370134870
|
0.00002
|
|
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)
|
rs61578124
|
0.00002
|
|
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys)
|
rs375987939
|
0.00002
|
|
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu)
|
rs745540806
|
0.00002
|
|
NM_170707.4(LMNA):c.986G>A (p.Arg329His)
|
rs397517913
|
0.00002
|
|
NM_182914.3(SYNE2):c.10036G>A (p.Ala3346Thr)
|
rs536877053
|
0.00002
|
|
NM_182914.3(SYNE2):c.10060G>A (p.Ala3354Thr)
|
rs763091372
|
0.00002
|
|
NM_182914.3(SYNE2):c.10163C>T (p.Ser3388Leu)
|
rs759908590
|
0.00002
|
|
NM_182914.3(SYNE2):c.10597C>G (p.Gln3533Glu)
|
rs200040718
|
0.00002
|
|
NM_182914.3(SYNE2):c.10697+20A>G
|
rs754817209
|
0.00002
|
|
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met)
|
rs373340663
|
0.00002
|
|
NM_182914.3(SYNE2):c.10970T>C (p.Ile3657Thr)
|
rs765755231
|
0.00002
|
|
NM_182914.3(SYNE2):c.11030A>G (p.Asn3677Ser)
|
rs1044882220
|
0.00002
|
|
NM_182914.3(SYNE2):c.1105G>A (p.Ala369Thr)
|
rs746878775
|
0.00002
|
|
NM_182914.3(SYNE2):c.1106C>T (p.Ala369Val)
|
rs550699600
|
0.00002
|
|
NM_182914.3(SYNE2):c.11090A>G (p.Asn3697Ser)
|
rs771556616
|
0.00002
|
|
NM_182914.3(SYNE2):c.11175C>T (p.Asp3725=)
|
rs138545972
|
0.00002
|
|
NM_182914.3(SYNE2):c.11282T>A (p.Ile3761Asn)
|
rs767934367
|
0.00002
|
|
NM_182914.3(SYNE2):c.1129-4T>C
|
rs1231962702
|
0.00002
|
|
NM_182914.3(SYNE2):c.11906G>A (p.Arg3969Gln)
|
rs563332131
|
0.00002
|
|
NM_182914.3(SYNE2):c.11930T>C (p.Ile3977Thr)
|
rs1459437577
|
0.00002
|
|
NM_182914.3(SYNE2):c.1195C>A (p.Leu399Ile)
|
rs751800008
|
0.00002
|
|
NM_182914.3(SYNE2):c.11G>A (p.Ser4Asn)
|
rs750823503
|
0.00002
|
|
NM_182914.3(SYNE2):c.12108+3A>G
|
rs751551602
|
0.00002
|
|
NM_182914.3(SYNE2):c.12194T>C (p.Leu4065Pro)
|
rs780016521
|
0.00002
|
|
NM_182914.3(SYNE2):c.12227A>G (p.Glu4076Gly)
|
rs556962500
|
0.00002
|
|
NM_182914.3(SYNE2):c.1238C>T (p.Ser413Phe)
|
rs777663838
|
0.00002
|
|
NM_182914.3(SYNE2):c.1257C>T (p.Ala419=)
|
rs1308417745
|
0.00002
|
|
NM_182914.3(SYNE2):c.12608A>T (p.Glu4203Val)
|
rs949678604
|
0.00002
|
|
NM_182914.3(SYNE2):c.12609+20A>T
|
rs1005221695
|
0.00002
|
|
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu)
|
rs139959852
|
0.00002
|
|
NM_182914.3(SYNE2):c.12941C>T (p.Ala4314Val)
|
rs769993001
|
0.00002
|
|
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=)
|
rs762957203
|
0.00002
|
|
NM_182914.3(SYNE2):c.13159-3C>T
|
rs1277619996
|
0.00002
|
|
NM_182914.3(SYNE2):c.13241G>A (p.Cys4414Tyr)
|
rs1020799360
|
0.00002
|
|
NM_182914.3(SYNE2):c.13422+11_13422+15dup
|
rs1334187345
|
0.00002
|
|
NM_182914.3(SYNE2):c.13707+6G>A
|
rs776316108
|
0.00002
|
|
NM_182914.3(SYNE2):c.13897G>A (p.Asp4633Asn)
|
rs751862856
|
0.00002
|
|
NM_182914.3(SYNE2):c.13918-13A>G
|
rs775576281
|
0.00002
|
|
NM_182914.3(SYNE2):c.14053G>A (p.Ala4685Thr)
|
rs779457100
|
0.00002
|
|
NM_182914.3(SYNE2):c.14203G>A (p.Val4735Ile)
|
rs538224852
|
0.00002
|
|
NM_182914.3(SYNE2):c.14207C>T (p.Thr4736Ile)
|
rs141148067
|
0.00002
|
|
NM_182914.3(SYNE2):c.14229G>T (p.Leu4743Phe)
|
rs772739903
|
0.00002
|
|
NM_182914.3(SYNE2):c.14252T>C (p.Val4751Ala)
|
rs752935094
|
0.00002
|
|
NM_182914.3(SYNE2):c.14312C>T (p.Ala4771Val)
|
rs573850693
|
0.00002
|
|
NM_182914.3(SYNE2):c.14614G>A (p.Glu4872Lys)
|
rs140203936
|
0.00002
|
|
NM_182914.3(SYNE2):c.14700C>T (p.Asn4900=)
|
rs372676140
|
0.00002
|
|
NM_182914.3(SYNE2):c.14721G>T (p.Ala4907=)
|
rs547898559
|
0.00002
|
|
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu)
|
rs145031656
|
0.00002
|
|
NM_182914.3(SYNE2):c.14976+15C>T
|
rs764391251
|
0.00002
|
|
NM_182914.3(SYNE2):c.15058G>C (p.Glu5020Gln)
|
rs747472621
|
0.00002
|
|
NM_182914.3(SYNE2):c.15159+1G>T
|
rs778511275
|
0.00002
|
|
NM_182914.3(SYNE2):c.15252C>T (p.Ser5084=)
|
rs757659613
|
0.00002
|
|
NM_182914.3(SYNE2):c.15444C>T (p.Asn5148=)
|
rs771629482
|
0.00002
|
|
NM_182914.3(SYNE2):c.15457C>T (p.Arg5153Cys)
|
rs770267414
|
0.00002
|
|
NM_182914.3(SYNE2):c.15464A>G (p.His5155Arg)
|
rs112886641
|
0.00002
|
|
NM_182914.3(SYNE2):c.15612A>C (p.Ser5204=)
|
rs200252872
|
0.00002
|
|
NM_182914.3(SYNE2):c.15865G>A (p.Val5289Met)
|
rs181059522
|
0.00002
|
|
NM_182914.3(SYNE2):c.15888C>T (p.Phe5296=)
|
rs772838959
|
0.00002
|
|
NM_182914.3(SYNE2):c.16023C>T (p.Ile5341=)
|
rs201645739
|
0.00002
|
|
NM_182914.3(SYNE2):c.16094G>A (p.Arg5365Lys)
|
rs1007733286
|
0.00002
|
|
NM_182914.3(SYNE2):c.16246A>C (p.Met5416Leu)
|
rs772402331
|
0.00002
|
|
NM_182914.3(SYNE2):c.16304T>G (p.Leu5435Arg)
|
rs750900424
|
0.00002
|
|
NM_182914.3(SYNE2):c.16701G>A (p.Thr5567=)
|
rs200950664
|
0.00002
|
|
NM_182914.3(SYNE2):c.16760+6A>G
|
rs756707482
|
0.00002
|
|
NM_182914.3(SYNE2):c.16782G>A (p.Leu5594=)
|
rs540356646
|
0.00002
|
|
NM_182914.3(SYNE2):c.16901A>G (p.Tyr5634Cys)
|
rs747214483
|
0.00002
|
|
NM_182914.3(SYNE2):c.17049T>G (p.Asn5683Lys)
|
rs1163559639
|
0.00002
|
|
NM_182914.3(SYNE2):c.17191C>T (p.Arg5731Cys)
|
rs376008959
|
0.00002
|
|
NM_182914.3(SYNE2):c.17443T>C (p.Cys5815Arg)
|
rs765907856
|
0.00002
|
|
NM_182914.3(SYNE2):c.17529C>T (p.Asp5843=)
|
rs1166564255
|
0.00002
|
|
NM_182914.3(SYNE2):c.17557-6A>T
|
rs775211172
|
0.00002
|
|
NM_182914.3(SYNE2):c.17623T>C (p.Leu5875=)
|
rs370682788
|
0.00002
|
|
NM_182914.3(SYNE2):c.17635G>A (p.Val5879Ile)
|
rs555731479
|
0.00002
|
|
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=)
|
rs971473774
|
0.00002
|
|
NM_182914.3(SYNE2):c.17823A>G (p.Leu5941=)
|
rs766073729
|
0.00002
|
|
NM_182914.3(SYNE2):c.18054G>A (p.Lys6018=)
|
rs752686051
|
0.00002
|
|
NM_182914.3(SYNE2):c.18163G>A (p.Asp6055Asn)
|
rs543875232
|
0.00002
|
|
NM_182914.3(SYNE2):c.18180G>C (p.Gln6060His)
|
rs771893487
|
0.00002
|
|
NM_182914.3(SYNE2):c.18276C>T (p.His6092=)
|
rs1006988639
|
0.00002
|
|
NM_182914.3(SYNE2):c.18282C>T (p.Ser6094=)
|
rs201056822
|
0.00002
|
|
NM_182914.3(SYNE2):c.18385A>G (p.Met6129Val)
|
rs766731181
|
0.00002
|
|
NM_182914.3(SYNE2):c.18564G>A (p.Glu6188=)
|
rs766542908
|
0.00002
|
|
NM_182914.3(SYNE2):c.18660C>T (p.His6220=)
|
rs757875136
|
0.00002
|
|
NM_182914.3(SYNE2):c.18851G>A (p.Arg6284His)
|
rs202157687
|
0.00002
|
|
NM_182914.3(SYNE2):c.19141C>T (p.Arg6381Trp)
|
rs372959292
|
0.00002
|
|
NM_182914.3(SYNE2):c.19152C>T (p.Ser6384=)
|
rs777311548
|
0.00002
|
|
NM_182914.3(SYNE2):c.19272C>T (p.Asp6424=)
|
rs774346816
|
0.00002
|
|
NM_182914.3(SYNE2):c.19293C>T (p.His6431=)
|
rs149178992
|
0.00002
|
|
NM_182914.3(SYNE2):c.19502C>G (p.Pro6501Arg)
|
rs763965173
|
0.00002
|
|
NM_182914.3(SYNE2):c.19569G>A (p.Thr6523=)
|
rs376821513
|
0.00002
|
|
NM_182914.3(SYNE2):c.19658-15A>G
|
rs767490912
|
0.00002
|
|
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr)
|
rs143077670
|
0.00002
|
|
NM_182914.3(SYNE2):c.20154C>A (p.Asp6718Glu)
|
rs201738236
|
0.00002
|
|
NM_182914.3(SYNE2):c.20215C>T (p.Arg6739Cys)
|
rs142809757
|
0.00002
|
|
NM_182914.3(SYNE2):c.20288T>C (p.Ile6763Thr)
|
rs758317659
|
0.00002
|
|
NM_182914.3(SYNE2):c.20516+16C>T
|
rs548855641
|
0.00002
|
|
NM_182914.3(SYNE2):c.20523C>T (p.Pro6841=)
|
rs751852545
|
0.00002
|
|
NM_182914.3(SYNE2):c.20543G>A (p.Arg6848His)
|
rs759174521
|
0.00002
|
|
NM_182914.3(SYNE2):c.20592C>G (p.Leu6864=)
|
rs879099788
|
0.00002
|
|
NM_182914.3(SYNE2):c.237+6A>G
|
rs766604570
|
0.00002
|
|
NM_182914.3(SYNE2):c.241C>T (p.Arg81Trp)
|
rs964727357
|
0.00002
|
|
NM_182914.3(SYNE2):c.2499G>A (p.Ala833=)
|
rs761478156
|
0.00002
|
|
NM_182914.3(SYNE2):c.2646+6A>T
|
rs768967034
|
0.00002
|
|
NM_182914.3(SYNE2):c.2744T>C (p.Leu915Ser)
|
rs376041943
|
0.00002
|
|
NM_182914.3(SYNE2):c.332T>C (p.Ile111Thr)
|
rs771063078
|
0.00002
|
|
NM_182914.3(SYNE2):c.3368G>A (p.Arg1123Lys)
|
rs748431472
|
0.00002
|
|
NM_182914.3(SYNE2):c.3505C>T (p.Arg1169Cys)
|
rs574167855
|
0.00002
|
|
NM_182914.3(SYNE2):c.3567G>T (p.Lys1189Asn)
|
rs776221033
|
0.00002
|
|
NM_182914.3(SYNE2):c.3710C>T (p.Ser1237Leu)
|
rs200305811
|
0.00002
|
|
NM_182914.3(SYNE2):c.3804A>G (p.Ile1268Met)
|
rs753563194
|
0.00002
|
|
NM_182914.3(SYNE2):c.3823T>C (p.Cys1275Arg)
|
rs2096765246
|
0.00002
|
|
NM_182914.3(SYNE2):c.4013C>T (p.Ser1338Phe)
|
rs1226719188
|
0.00002
|
|
NM_182914.3(SYNE2):c.4024G>A (p.Val1342Ile)
|
rs747274988
|
0.00002
|
|
NM_182914.3(SYNE2):c.4285C>T (p.Leu1429=)
|
rs761375106
|
0.00002
|
|
NM_182914.3(SYNE2):c.4332A>G (p.Gln1444=)
|
rs753910622
|
0.00002
|
|
NM_182914.3(SYNE2):c.4394A>G (p.His1465Arg)
|
rs537177665
|
0.00002
|
|
NM_182914.3(SYNE2):c.4614A>G (p.Lys1538=)
|
rs572672283
|
0.00002
|
|
NM_182914.3(SYNE2):c.4689G>A (p.Ser1563=)
|
rs372617436
|
0.00002
|
|
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu)
|
rs764521226
|
0.00002
|
|
NM_182914.3(SYNE2):c.4931C>T (p.Ala1644Val)
|
rs771776215
|
0.00002
|
|
NM_182914.3(SYNE2):c.4972A>G (p.Ile1658Val)
|
rs1202099367
|
0.00002
|
|
NM_182914.3(SYNE2):c.5015A>T (p.His1672Leu)
|
rs927045912
|
0.00002
|
|
NM_182914.3(SYNE2):c.5121C>T (p.Leu1707=)
|
rs199819734
|
0.00002
|
|
NM_182914.3(SYNE2):c.5525-11T>C
|
rs1186914371
|
0.00002
|
|
NM_182914.3(SYNE2):c.5960+13T>C
|
rs377327088
|
0.00002
|
|
NM_182914.3(SYNE2):c.6164A>G (p.His2055Arg)
|
rs368032214
|
0.00002
|
|
NM_182914.3(SYNE2):c.6398A>T (p.Tyr2133Phe)
|
rs1307365295
|
0.00002
|
|
NM_182914.3(SYNE2):c.6555T>C (p.Tyr2185=)
|
rs112241770
|
0.00002
|
|
NM_182914.3(SYNE2):c.6588A>G (p.Thr2196=)
|
rs367788980
|
0.00002
|
|
NM_182914.3(SYNE2):c.660T>G (p.Ile220Met)
|
rs375642734
|
0.00002
|
|
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln)
|
rs764036360
|
0.00002
|
|
NM_182914.3(SYNE2):c.6793T>C (p.Leu2265=)
|
rs746513307
|
0.00002
|
|
NM_182914.3(SYNE2):c.7248A>G (p.Ser2416=)
|
rs1440802099
|
0.00002
|
|
NM_182914.3(SYNE2):c.7266T>C (p.Asn2422=)
|
rs747796543
|
0.00002
|
|
NM_182914.3(SYNE2):c.7321A>G (p.Asn2441Asp)
|
rs754057512
|
0.00002
|
|
NM_182914.3(SYNE2):c.7541A>T (p.Asn2514Ile)
|
rs771061486
|
0.00002
|
|
NM_182914.3(SYNE2):c.7695A>C (p.Ala2565=)
|
rs373434720
|
0.00002
|
|
NM_182914.3(SYNE2):c.7727A>T (p.Asn2576Ile)
|
rs754276862
|
0.00002
|
|
NM_182914.3(SYNE2):c.8329G>A (p.Ala2777Thr)
|
rs187045714
|
0.00002
|
|
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe)
|
rs200570324
|
0.00002
|
|
NM_182914.3(SYNE2):c.8424A>G (p.Leu2808=)
|
rs751330977
|
0.00002
|
|
NM_182914.3(SYNE2):c.8472A>G (p.Gln2824=)
|
rs888692979
|
0.00002
|
|
NM_182914.3(SYNE2):c.8547G>T (p.Met2849Ile)
|
rs755461661
|
0.00002
|
|
NM_182914.3(SYNE2):c.8558G>A (p.Ser2853Asn)
|
rs763671728
|
0.00002
|
|
NM_182914.3(SYNE2):c.8598G>A (p.Thr2866=)
|
rs199771856
|
0.00002
|
|
NM_182914.3(SYNE2):c.8729G>A (p.Arg2910Lys)
|
rs367802102
|
0.00002
|
|
NM_182914.3(SYNE2):c.8928T>C (p.Gly2976=)
|
rs373828834
|
0.00002
|
|
NM_182914.3(SYNE2):c.892A>C (p.Lys298Gln)
|
rs866911879
|
0.00002
|
|
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=)
|
rs773209564
|
0.00002
|
|
NM_182914.3(SYNE2):c.9088G>A (p.Glu3030Lys)
|
rs60466225
|
0.00002
|
|
NM_182914.3(SYNE2):c.9140A>G (p.Lys3047Arg)
|
rs201471505
|
0.00002
|
|
NM_182914.3(SYNE2):c.939A>G (p.Leu313=)
|
rs369246311
|
0.00002
|
|
NM_182914.3(SYNE2):c.9692G>A (p.Arg3231His)
|
rs773533722
|
0.00002
|
|
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys)
|
rs570116954
|
0.00002
|
|
NM_182961.4(SYNE1):c.10039G>A (p.Val3347Ile)
|
rs762448899
|
0.00002
|
|
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu)
|
rs748499952
|
0.00002
|
|
NM_182961.4(SYNE1):c.10136G>A (p.Arg3379His)
|
rs764835758
|
0.00002
|
|
NM_182961.4(SYNE1):c.1016T>C (p.Met339Thr)
|
rs1489130675
|
0.00002
|
|
NM_182961.4(SYNE1):c.10474C>T (p.Arg3492Cys)
|
rs531503159
|
0.00002
|
|
NM_182961.4(SYNE1):c.10568G>A (p.Gly3523Asp)
|
rs766218121
|
0.00002
|
|
NM_182961.4(SYNE1):c.10624T>C (p.Cys3542Arg)
|
rs751032216
|
0.00002
|
|
NM_182961.4(SYNE1):c.10762G>A (p.Glu3588Lys)
|
rs371209532
|
0.00002
|
|
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=)
|
rs750318922
|
0.00002
|
|
NM_182961.4(SYNE1):c.11002G>A (p.Glu3668Lys)
|
rs767544504
|
0.00002
|
|
NM_182961.4(SYNE1):c.11086C>G (p.Gln3696Glu)
|
rs377095831
|
0.00002
|
|
NM_182961.4(SYNE1):c.1126G>A (p.Gly376Ser)
|
rs757408388
|
0.00002
|
|
NM_182961.4(SYNE1):c.11381T>A (p.Met3794Lys)
|
rs143519691
|
0.00002
|
|
NM_182961.4(SYNE1):c.114C>T (p.Asn38=)
|
rs150562892
|
0.00002
|
|
NM_182961.4(SYNE1):c.11609A>G (p.Glu3870Gly)
|
rs771572017
|
0.00002
|
|
NM_182961.4(SYNE1):c.11692C>A (p.Gln3898Lys)
|
rs768435800
|
0.00002
|
|
NM_182961.4(SYNE1):c.11711A>G (p.Gln3904Arg)
|
rs771294384
|
0.00002
|
|
NM_182961.4(SYNE1):c.11962G>A (p.Asp3988Asn)
|
rs148782440
|
0.00002
|
|
NM_182961.4(SYNE1):c.12035G>A (p.Gly4012Asp)
|
rs745342797
|
0.00002
|
|
NM_182961.4(SYNE1):c.12323C>T (p.Ala4108Val)
|
rs560488372
|
0.00002
|
|
NM_182961.4(SYNE1):c.123G>A (p.Leu41=)
|
rs757646961
|
0.00002
|
|
NM_182961.4(SYNE1):c.12529-11T>G
|
rs886977669
|
0.00002
|
|
NM_182961.4(SYNE1):c.12658G>A (p.Asp4220Asn)
|
rs201449723
|
0.00002
|
|
NM_182961.4(SYNE1):c.12704A>G (p.Asp4235Gly)
|
rs964082904
|
0.00002
|
|
NM_182961.4(SYNE1):c.1305C>T (p.His435=)
|
rs539575253
|
0.00002
|
|
NM_182961.4(SYNE1):c.13105G>A (p.Glu4369Lys)
|
rs777182389
|
0.00002
|
|
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg)
|
rs763501028
|
0.00002
|
|
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=)
|
rs773593843
|
0.00002
|
|
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr)
|
rs368709678
|
0.00002
|
|
NM_182961.4(SYNE1):c.13299C>T (p.His4433=)
|
rs763090658
|
0.00002
|
|
NM_182961.4(SYNE1):c.13A>G (p.Arg5Gly)
|
rs777385898
|
0.00002
|
|
NM_182961.4(SYNE1):c.14116G>A (p.Val4706Ile)
|
rs374596074
|
0.00002
|
|
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser)
|
rs368490158
|
0.00002
|
|
NM_182961.4(SYNE1):c.14349C>T (p.His4783=)
|
rs767810691
|
0.00002
|
|
NM_182961.4(SYNE1):c.14458T>A (p.Ser4820Thr)
|
rs999907923
|
0.00002
|
|
NM_182961.4(SYNE1):c.14513A>G (p.His4838Arg)
|
rs577675508
|
0.00002
|
|
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His)
|
rs369433602
|
0.00002
|
|
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)
|
rs375077588
|
0.00002
|
|
NM_182961.4(SYNE1):c.14945G>A (p.Arg4982His)
|
rs754495941
|
0.00002
|
|
NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr)
|
rs762212036
|
0.00002
|
|
NM_182961.4(SYNE1):c.1502T>C (p.Met501Thr)
|
rs202149617
|
0.00002
|
|
NM_182961.4(SYNE1):c.15053T>A (p.Leu5018Gln)
|
rs772978925
|
0.00002
|
|
NM_182961.4(SYNE1):c.15174C>T (p.Thr5058=)
|
rs377428273
|
0.00002
|
|
NM_182961.4(SYNE1):c.15222A>C (p.Lys5074Asn)
|
rs780677467
|
0.00002
|
|
NM_182961.4(SYNE1):c.15399G>A (p.Ser5133=)
|
rs761249756
|
0.00002
|
|
NM_182961.4(SYNE1):c.15408T>C (p.His5136=)
|
rs776024178
|
0.00002
|
|
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile)
|
rs770022371
|
0.00002
|
|
NM_182961.4(SYNE1):c.15918C>T (p.Asn5306=)
|
rs1354133843
|
0.00002
|
|
NM_182961.4(SYNE1):c.15942T>C (p.Asn5314=)
|
rs555697165
|
0.00002
|
|
NM_182961.4(SYNE1):c.16167T>C (p.Tyr5389=)
|
rs200796273
|
0.00002
|
|
NM_182961.4(SYNE1):c.16198T>C (p.Leu5400=)
|
rs541916760
|
0.00002
|
|
NM_182961.4(SYNE1):c.16237-13del
|
rs758437735
|
0.00002
|
|
NM_182961.4(SYNE1):c.16288C>T (p.Leu5430Phe)
|
rs377227289
|
0.00002
|
|
NM_182961.4(SYNE1):c.16371A>C (p.Gln5457His)
|
rs370002959
|
0.00002
|
|
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)
|
rs150604289
|
0.00002
|
|
NM_182961.4(SYNE1):c.16726T>C (p.Ser5576Pro)
|
rs373436725
|
0.00002
|
|
NM_182961.4(SYNE1):c.16897-13A>G
|
rs754825945
|
0.00002
|
|
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp)
|
rs780794124
|
0.00002
|
|
NM_182961.4(SYNE1):c.17071C>T (p.Leu5691Phe)
|
rs767705064
|
0.00002
|
|
NM_182961.4(SYNE1):c.17174C>A (p.Thr5725Asn)
|
rs751747080
|
0.00002
|
|
NM_182961.4(SYNE1):c.17255A>G (p.Gln5752Arg)
|
rs201146113
|
0.00002
|
|
NM_182961.4(SYNE1):c.17274C>A (p.His5758Gln)
|
rs147858920
|
0.00002
|
|
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro)
|
rs753335678
|
0.00002
|
|
NM_182961.4(SYNE1):c.17656G>A (p.Ala5886Thr)
|
rs774189380
|
0.00002
|
|
NM_182961.4(SYNE1):c.17683-11T>C
|
rs759219567
|
0.00002
|
|
NM_182961.4(SYNE1):c.17847T>C (p.Asn5949=)
|
rs755030815
|
0.00002
|
|
NM_182961.4(SYNE1):c.17850+19del
|
rs1362611063
|
0.00002
|
|
NM_182961.4(SYNE1):c.17866C>T (p.Arg5956Cys)
|
rs558631055
|
0.00002
|
|
NM_182961.4(SYNE1):c.18080A>T (p.Glu6027Val)
|
rs780920250
|
0.00002
|
|
NM_182961.4(SYNE1):c.18441T>C (p.Asn6147=)
|
rs558367406
|
0.00002
|
|
NM_182961.4(SYNE1):c.1849C>T (p.Arg617Cys)
|
rs980349048
|
0.00002
|
|
NM_182961.4(SYNE1):c.18507G>A (p.Leu6169=)
|
rs1194007387
|
0.00002
|
|
NM_182961.4(SYNE1):c.18620C>T (p.Thr6207Met)
|
rs373188583
|
0.00002
|
|
NM_182961.4(SYNE1):c.18621G>A (p.Thr6207=)
|
rs754877966
|
0.00002
|
|
NM_182961.4(SYNE1):c.18633C>T (p.Gly6211=)
|
rs755740458
|
0.00002
|
|
NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile)
|
rs138258566
|
0.00002
|
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00002
|
|
NM_182961.4(SYNE1):c.19136T>C (p.Leu6379Ser)
|
rs777882357
|
0.00002
|
|
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu)
|
rs773315032
|
0.00002
|
|
NM_182961.4(SYNE1):c.19471-17G>A
|
rs764198291
|
0.00002
|
|
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser)
|
rs747674900
|
0.00002
|
|
NM_182961.4(SYNE1):c.20607A>G (p.Leu6869=)
|
rs752269968
|
0.00002
|
|
NM_182961.4(SYNE1):c.20712+7A>T
|
rs776363510
|
0.00002
|
|
NM_182961.4(SYNE1):c.20741A>C (p.His6914Pro)
|
rs773155844
|
0.00002
|
|
NM_182961.4(SYNE1):c.20862+17G>A
|
rs755276403
|
0.00002
|
|
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His)
|
rs777618601
|
0.00002
|
|
NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys)
|
rs772396355
|
0.00002
|
|
NM_182961.4(SYNE1):c.21351+6A>G
|
rs760934207
|
0.00002
|
|
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)
|
rs778445117
|
0.00002
|
|
NM_182961.4(SYNE1):c.21465A>T (p.Arg7155=)
|
rs781552217
|
0.00002
|
|
NM_182961.4(SYNE1):c.21511G>A (p.Asp7171Asn)
|
rs1488536575
|
0.00002
|
|
NM_182961.4(SYNE1):c.22162A>G (p.Thr7388Ala)
|
rs1386701721
|
0.00002
|
|
NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala)
|
rs774655615
|
0.00002
|
|
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe)
|
rs886061196
|
0.00002
|
|
NM_182961.4(SYNE1):c.22558C>T (p.Arg7520Cys)
|
rs755621860
|
0.00002
|
|
NM_182961.4(SYNE1):c.22840T>A (p.Phe7614Ile)
|
rs138581943
|
0.00002
|
|
NM_182961.4(SYNE1):c.2286A>G (p.Gln762=)
|
rs375103550
|
0.00002
|
|
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp)
|
rs202017153
|
0.00002
|
|
NM_182961.4(SYNE1):c.22979G>A (p.Arg7660Gln)
|
rs1461427417
|
0.00002
|
|
NM_182961.4(SYNE1):c.23020-5G>A
|
rs754289166
|
0.00002
|
|
NM_182961.4(SYNE1):c.23102C>T (p.Pro7701Leu)
|
rs780201995
|
0.00002
|
|
NM_182961.4(SYNE1):c.23103G>A (p.Pro7701=)
|
rs752017186
|
0.00002
|
|
NM_182961.4(SYNE1):c.23214C>G (p.Leu7738=)
|
rs543882781
|
0.00002
|
|
NM_182961.4(SYNE1):c.23240T>A (p.Ile7747Asn)
|
rs1435183530
|
0.00002
|
|
NM_182961.4(SYNE1):c.23314C>T (p.Arg7772Trp)
|
rs373935459
|
0.00002
|
|
NM_182961.4(SYNE1):c.23355C>T (p.Phe7785=)
|
rs772418162
|
0.00002
|
|
NM_182961.4(SYNE1):c.23358T>A (p.Ser7786Arg)
|
rs748682472
|
0.00002
|
|
NM_182961.4(SYNE1):c.23373A>G (p.Glu7791=)
|
rs993468538
|
0.00002
|
|
NM_182961.4(SYNE1):c.23590G>A (p.Asp7864Asn)
|
rs760076679
|
0.00002
|
|
NM_182961.4(SYNE1):c.23707C>T (p.His7903Tyr)
|
rs886042801
|
0.00002
|
|
NM_182961.4(SYNE1):c.23737G>A (p.Val7913Ile)
|
rs528535664
|
0.00002
|
|
NM_182961.4(SYNE1):c.2394+3G>A
|
rs368012666
|
0.00002
|
|
NM_182961.4(SYNE1):c.2394+4C>T
|
rs749262350
|
0.00002
|
|
NM_182961.4(SYNE1):c.23978+11A>T
|
rs754355745
|
0.00002
|
|
NM_182961.4(SYNE1):c.24242T>C (p.Met8081Thr)
|
rs750841362
|
0.00002
|
|
NM_182961.4(SYNE1):c.242G>A (p.Arg81His)
|
rs761189574
|
0.00002
|
|
NM_182961.4(SYNE1):c.24313-8C>T
|
rs201008999
|
0.00002
|
|
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu)
|
rs149940427
|
0.00002
|
|
NM_182961.4(SYNE1):c.24450+9T>C
|
rs746934542
|
0.00002
|
|
NM_182961.4(SYNE1):c.24496A>G (p.Ile8166Val)
|
rs773060979
|
0.00002
|
|
NM_182961.4(SYNE1):c.24556G>A (p.Glu8186Lys)
|
rs200752692
|
0.00002
|
|
NM_182961.4(SYNE1):c.24569A>C (p.Asp8190Ala)
|
rs754128595
|
0.00002
|
|
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His)
|
rs376102438
|
0.00002
|
|
NM_182961.4(SYNE1):c.24724G>A (p.Asp8242Asn)
|
rs751624606
|
0.00002
|
|
NM_182961.4(SYNE1):c.24955C>T (p.Arg8319Trp)
|
rs201109440
|
0.00002
|
|
NM_182961.4(SYNE1):c.24991C>G (p.Leu8331Val)
|
rs776807564
|
0.00002
|
|
NM_182961.4(SYNE1):c.25046T>C (p.Ile8349Thr)
|
rs927451522
|
0.00002
|
|
NM_182961.4(SYNE1):c.25119+3A>G
|
rs1057521423
|
0.00002
|
|
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)
|
rs375476506
|
0.00002
|
|
NM_182961.4(SYNE1):c.25246+17C>T
|
rs772625869
|
0.00002
|
|
NM_182961.4(SYNE1):c.2530G>A (p.Glu844Lys)
|
rs770166877
|
0.00002
|
|
NM_182961.4(SYNE1):c.2543G>C (p.Ser848Thr)
|
rs770713708
|
0.00002
|
|
NM_182961.4(SYNE1):c.25460A>T (p.Glu8487Val)
|
rs775455354
|
0.00002
|
|
NM_182961.4(SYNE1):c.25515C>T (p.Cys8505=)
|
rs144459490
|
0.00002
|
|
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=)
|
rs201344762
|
0.00002
|
|
NM_182961.4(SYNE1):c.26213del (p.Arg8738fs)
|
rs774317818
|
0.00002
|
|
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg)
|
rs758464869
|
0.00002
|
|
NM_182961.4(SYNE1):c.2731A>G (p.Met911Val)
|
rs1310685451
|
0.00002
|
|
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr)
|
rs1007703591
|
0.00002
|
|
NM_182961.4(SYNE1):c.2889C>T (p.His963=)
|
rs747231741
|
0.00002
|
|
NM_182961.4(SYNE1):c.2892+8C>T
|
rs374408461
|
0.00002
|
|
NM_182961.4(SYNE1):c.2T>C (p.Met1Thr)
|
rs769726483
|
0.00002
|
|
NM_182961.4(SYNE1):c.3465C>T (p.Ile1155=)
|
rs770210620
|
0.00002
|
|
NM_182961.4(SYNE1):c.3473C>T (p.Ala1158Val)
|
rs746060505
|
0.00002
|
|
NM_182961.4(SYNE1):c.3657G>A (p.Thr1219=)
|
rs756713928
|
0.00002
|
|
NM_182961.4(SYNE1):c.3736G>A (p.Glu1246Lys)
|
rs138915528
|
0.00002
|
|
NM_182961.4(SYNE1):c.3837+8T>C
|
rs377391406
|
0.00002
|
|
NM_182961.4(SYNE1):c.4008+16T>C
|
rs763851876
|
0.00002
|
|
NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=)
|
rs762887399
|
0.00002
|
|
NM_182961.4(SYNE1):c.4059A>G (p.Val1353=)
|
rs769854299
|
0.00002
|
|
NM_182961.4(SYNE1):c.4299G>A (p.Thr1433=)
|
rs528090478
|
0.00002
|
|
NM_182961.4(SYNE1):c.4461+14A>T
|
rs554281097
|
0.00002
|
|
NM_182961.4(SYNE1):c.4487A>G (p.Lys1496Arg)
|
rs146300279
|
0.00002
|
|
NM_182961.4(SYNE1):c.4668G>C (p.Lys1556Asn)
|
rs774194598
|
0.00002
|
|
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe)
|
rs151002514
|
0.00002
|
|
NM_182961.4(SYNE1):c.4821C>T (p.Ser1607=)
|
rs754445939
|
0.00002
|
|
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=)
|
rs771955377
|
0.00002
|
|
NM_182961.4(SYNE1):c.5018G>A (p.Arg1673Gln)
|
rs749115727
|
0.00002
|
|
NM_182961.4(SYNE1):c.5666A>C (p.Gln1889Pro)
|
rs779600835
|
0.00002
|
|
NM_182961.4(SYNE1):c.5710T>A (p.Leu1904Met)
|
rs372724272
|
0.00002
|
|
NM_182961.4(SYNE1):c.5780A>G (p.Asp1927Gly)
|
rs144732736
|
0.00002
|
|
NM_182961.4(SYNE1):c.581+10_581+11del
|
rs1429057946
|
0.00002
|
|
NM_182961.4(SYNE1):c.582-6A>G
|
rs199728167
|
0.00002
|
|
NM_182961.4(SYNE1):c.5872G>A (p.Glu1958Lys)
|
rs1563856215
|
0.00002
|
|
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn)
|
rs1449605743
|
0.00002
|
|
NM_182961.4(SYNE1):c.6136G>T (p.Ala2046Ser)
|
rs200432574
|
0.00002
|
|
NM_182961.4(SYNE1):c.6281T>A (p.Leu2094Gln)
|
rs201747340
|
0.00002
|
|
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly)
|
rs368938119
|
0.00002
|
|
NM_182961.4(SYNE1):c.6431A>G (p.Asn2144Ser)
|
rs28447480
|
0.00002
|
|
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu)
|
rs765343767
|
0.00002
|
|
NM_182961.4(SYNE1):c.6724-14T>C
|
rs768271718
|
0.00002
|
|
NM_182961.4(SYNE1):c.68A>G (p.Asp23Gly)
|
rs370851746
|
0.00002
|
|
NM_182961.4(SYNE1):c.6933G>A (p.Lys2311=)
|
rs375127604
|
0.00002
|
|
NM_182961.4(SYNE1):c.7103G>A (p.Arg2368His)
|
rs755821648
|
0.00002
|
|
NM_182961.4(SYNE1):c.7174G>A (p.Val2392Met)
|
rs146099481
|
0.00002
|
|
NM_182961.4(SYNE1):c.7279G>A (p.Ala2427Thr)
|
rs763152677
|
0.00002
|
|
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys)
|
rs370082646
|
0.00002
|
|
NM_182961.4(SYNE1):c.7340A>G (p.His2447Arg)
|
rs527670014
|
0.00002
|
|
NM_182961.4(SYNE1):c.7444G>A (p.Val2482Ile)
|
rs375687383
|
0.00002
|
|
NM_182961.4(SYNE1):c.7610G>A (p.Arg2537Lys)
|
rs762448241
|
0.00002
|
|
NM_182961.4(SYNE1):c.7768G>A (p.Gly2590Ser)
|
rs367840064
|
0.00002
|
|
NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu)
|
rs370644295
|
0.00002
|
|
NM_182961.4(SYNE1):c.8335A>G (p.Ile2779Val)
|
rs746384150
|
0.00002
|
|
NM_182961.4(SYNE1):c.8373C>T (p.His2791=)
|
rs1465961867
|
0.00002
|
|
NM_182961.4(SYNE1):c.8392A>G (p.Arg2798Gly)
|
rs886044262
|
0.00002
|
|
NM_182961.4(SYNE1):c.8468A>G (p.Asp2823Gly)
|
rs545685387
|
0.00002
|
|
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)
|
rs757737346
|
0.00002
|
|
NM_182961.4(SYNE1):c.8568C>G (p.Leu2856=)
|
rs143105336
|
0.00002
|
|
NM_182961.4(SYNE1):c.860A>G (p.Asn287Ser)
|
rs781096163
|
0.00002
|
|
NM_182961.4(SYNE1):c.8686C>T (p.Arg2896Cys)
|
rs750573381
|
0.00002
|
|
NM_182961.4(SYNE1):c.8705C>T (p.Ser2902Leu)
|
rs576979843
|
0.00002
|
|
NM_182961.4(SYNE1):c.8784C>T (p.Ala2928=)
|
rs759200516
|
0.00002
|
|
NM_182961.4(SYNE1):c.8861C>T (p.Ser2954Leu)
|
rs145819043
|
0.00002
|
|
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)
|
rs199708211
|
0.00002
|
|
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)
|
rs549779256
|
0.00002
|
|
NM_182961.4(SYNE1):c.9630G>A (p.Arg3210=)
|
rs757280513
|
0.00002
|
|
NM_182961.4(SYNE1):c.9779A>G (p.Gln3260Arg)
|
rs555197359
|
0.00002
|
|
NM_182961.4(SYNE1):c.9788C>T (p.Ala3263Val)
|
rs780460827
|
0.00002
|
|
NM_182961.4(SYNE1):c.9835G>A (p.Val3279Ile)
|
rs762807112
|
0.00002
|
|
NM_182961.4(SYNE1):c.9847A>C (p.Asn3283His)
|
rs745707616
|
0.00002
|
|
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn)
|
rs746689638
|
0.00002
|
|
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=)
|
rs747731841
|
0.00002
|
|
NM_182961.4(SYNE1):c.9973-16G>C
|
rs1200216933
|
0.00002
|
|
NM_000117.3(EMD):c.103G>A (p.Glu35Lys)
|
rs782222974
|
0.00001
|
|
NM_000117.3(EMD):c.117C>T (p.Phe39=)
|
rs782334564
|
0.00001
|
|
NM_000117.3(EMD):c.129C>T (p.Thr43=)
|
rs781938390
|
0.00001
|
|
NM_000117.3(EMD):c.132G>A (p.Gln44=)
|
rs1322660028
|
0.00001
|
|
NM_000117.3(EMD):c.149C>A (p.Pro50His)
|
rs782021157
|
0.00001
|
|
NM_000117.3(EMD):c.153C>A (p.Pro51=)
|
rs782051850
|
0.00001
|
|
NM_000117.3(EMD):c.15A>G (p.Ala5=)
|
rs1365728244
|
0.00001
|
|
NM_000117.3(EMD):c.168C>T (p.Ala56=)
|
rs782087009
|
0.00001
|
|
NM_000117.3(EMD):c.188-16C>T
|
rs1269992805
|
0.00001
|
|
NM_000117.3(EMD):c.198G>T (p.Ser66=)
|
rs1557182359
|
0.00001
|
|
NM_000117.3(EMD):c.240G>A (p.Glu80=)
|
rs782641259
|
0.00001
|
|
NM_000117.3(EMD):c.242A>G (p.Asp81Gly)
|
rs1557182377
|
0.00001
|
|
NM_000117.3(EMD):c.252C>T (p.Leu84=)
|
rs782612830
|
0.00001
|
|
NM_000117.3(EMD):c.266-19C>T
|
rs1057522166
|
0.00001
|
|
NM_000117.3(EMD):c.295T>C (p.Tyr99His)
|
rs781835089
|
0.00001
|
|
NM_000117.3(EMD):c.297C>T (p.Tyr99=)
|
rs1010675678
|
0.00001
|
|
NM_000117.3(EMD):c.306C>T (p.Thr102=)
|
rs782579799
|
0.00001
|
|
NM_000117.3(EMD):c.315T>C (p.Tyr105=)
|
rs1342409944
|
0.00001
|
|
NM_000117.3(EMD):c.330T>G (p.Ser110=)
|
rs782666989
|
0.00001
|
|
NM_000117.3(EMD):c.359C>T (p.Ser120Leu)
|
rs782038352
|
0.00001
|
|
NM_000117.3(EMD):c.400-4G>T
|
rs782029952
|
0.00001
|
|
NM_000117.3(EMD):c.400-6C>T
|
rs782396776
|
0.00001
|
|
NM_000117.3(EMD):c.400G>A (p.Val134Met)
|
rs201250825
|
0.00001
|
|
NM_000117.3(EMD):c.403C>T (p.His135Tyr)
|
rs782110153
|
0.00001
|
|
NM_000117.3(EMD):c.406G>C (p.Asp136His)
|
rs869025401
|
0.00001
|
|
NM_000117.3(EMD):c.423T>G (p.Ser141=)
|
rs1209782193
|
0.00001
|
|
NM_000117.3(EMD):c.436G>A (p.Glu146Lys)
|
rs782732591
|
0.00001
|
|
NM_000117.3(EMD):c.444G>A (p.Lys148=)
|
rs781889750
|
0.00001
|
|
NM_000117.3(EMD):c.449+12G>A
|
rs1557182578
|
0.00001
|
|
NM_000117.3(EMD):c.450-13T>C
|
rs375480222
|
0.00001
|
|
NM_000117.3(EMD):c.450-19C>T
|
rs1557182589
|
0.00001
|
|
NM_000117.3(EMD):c.489C>T (p.Ser163=)
|
rs782558454
|
0.00001
|
|
NM_000117.3(EMD):c.492C>T (p.Ile164=)
|
rs1286873712
|
0.00001
|
|
NM_000117.3(EMD):c.494C>T (p.Thr165Met)
|
rs397515751
|
0.00001
|
|
NM_000117.3(EMD):c.542A>G (p.Tyr181Cys)
|
rs1569552104
|
0.00001
|
|
NM_000117.3(EMD):c.557C>T (p.Ser186Phe)
|
rs372718547
|
0.00001
|
|
NM_000117.3(EMD):c.575C>T (p.Ser192Phe)
|
rs782393829
|
0.00001
|
|
NM_000117.3(EMD):c.57C>T (p.Tyr19=)
|
rs371661299
|
0.00001
|
|
NM_000117.3(EMD):c.582A>C (p.Ser194=)
|
rs781933286
|
0.00001
|
|
NM_000117.3(EMD):c.593C>T (p.Ser198Phe)
|
rs1569552105
|
0.00001
|
|
NM_000117.3(EMD):c.603C>T (p.Leu201=)
|
rs1557182663
|
0.00001
|
|
NM_000117.3(EMD):c.619C>T (p.Arg207Trp)
|
rs2067885563
|
0.00001
|
|
NM_000117.3(EMD):c.620G>A (p.Arg207Gln)
|
rs782352489
|
0.00001
|
|
NM_000117.3(EMD):c.631C>T (p.Arg211Cys)
|
rs782193940
|
0.00001
|
|
NM_000117.3(EMD):c.702C>T (p.Val234=)
|
rs1057521076
|
0.00001
|
|
NM_000117.3(EMD):c.711C>T (p.Ile237=)
|
rs727503037
|
0.00001
|
|
NM_000117.3(EMD):c.728A>C (p.Tyr243Ser)
|
rs782208090
|
0.00001
|
|
NM_000117.3(EMD):c.735C>T (p.Phe245=)
|
rs782312045
|
0.00001
|
|
NM_000117.3(EMD):c.82+9C>T
|
rs1422586674
|
0.00001
|
|
NM_000117.3(EMD):c.83-18C>T
|
rs782577051
|
0.00001
|
|
NM_000257.4(MYH7):c.*81G>A
|
rs938515730
|
0.00001
|
|
NM_000257.4(MYH7):c.1000-13G>T
|
rs772831757
|
0.00001
|
|
NM_000257.4(MYH7):c.1060G>A (p.Gly354Ser)
|
rs727503270
|
0.00001
|
|
NM_000257.4(MYH7):c.1119G>A (p.Ala373=)
|
rs572672362
|
0.00001
|
|
NM_000257.4(MYH7):c.1139-4C>T
|
rs886050422
|
0.00001
|
|
NM_000257.4(MYH7):c.124G>A (p.Asp42Asn)
|
rs780785242
|
0.00001
|
|
NM_000257.4(MYH7):c.1257+7C>A
|
rs759480696
|
0.00001
|
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
0.00001
|
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
|
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)
|
rs397516119
|
0.00001
|
|
NM_000257.4(MYH7):c.1749C>T (p.Ala583=)
|
rs758665829
|
0.00001
|
|
NM_000257.4(MYH7):c.1772T>C (p.Ile591Thr)
|
rs775089432
|
0.00001
|
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
|
NM_000257.4(MYH7):c.1879G>T (p.Ala627Ser)
|
rs1174863002
|
0.00001
|
|
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val)
|
rs1339799654
|
0.00001
|
|
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)
|
rs121913637
|
0.00001
|
|
NM_000257.4(MYH7):c.2168G>A (p.Arg723His)
|
rs397516135
|
0.00001
|
|
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)
|
rs772442923
|
0.00001
|
|
NM_000257.4(MYH7):c.2556G>A (p.Met852Ile)
|
rs1343088568
|
0.00001
|
|
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile)
|
rs397516158
|
0.00001
|
|
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)
|
rs750204313
|
0.00001
|
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
|
NM_000257.4(MYH7):c.268A>G (p.Met90Val)
|
rs769054108
|
0.00001
|
|
NM_000257.4(MYH7):c.2692C>T (p.Leu898=)
|
rs727504407
|
0.00001
|
|
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)
|
rs267606908
|
0.00001
|
|
NM_000257.4(MYH7):c.2727C>A (p.Ile909=)
|
rs377722048
|
0.00001
|
|
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr)
|
rs771599539
|
0.00001
|
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
|
NM_000257.4(MYH7):c.2922+6G>C
|
rs781192476
|
0.00001
|
|
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn)
|
rs727504388
|
0.00001
|
|
NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg)
|
rs1298804415
|
0.00001
|
|
NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu)
|
rs730880762
|
0.00001
|
|
NM_000257.4(MYH7):c.3028C>T (p.Leu1010Phe)
|
rs768312155
|
0.00001
|
|
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr)
|
rs1159928168
|
0.00001
|
|
NM_000257.4(MYH7):c.3200T>C (p.Met1067Thr)
|
rs763564858
|
0.00001
|
|
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
|
rs192722540
|
0.00001
|
|
NM_000257.4(MYH7):c.3245+2T>G
|
rs113859723
|
0.00001
|
|
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val)
|
rs397516184
|
0.00001
|
|
NM_000257.4(MYH7):c.3457G>A (p.Ala1153Thr)
|
rs774812187
|
0.00001
|
|
NM_000257.4(MYH7):c.3589G>A (p.Ala1197Thr)
|
rs1487430775
|
0.00001
|
|
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg)
|
rs397516188
|
0.00001
|
|
NM_000257.4(MYH7):c.3711G>A (p.Gln1237=)
|
rs1361182615
|
0.00001
|
|
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln)
|
rs397516192
|
0.00001
|
|
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His)
|
rs200000290
|
0.00001
|
|
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)
|
rs397516195
|
0.00001
|
|
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln)
|
rs1287612987
|
0.00001
|
|
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)
|
rs730880785
|
0.00001
|
|
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=)
|
rs886050419
|
0.00001
|
|
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr)
|
rs397516198
|
0.00001
|
|
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu)
|
rs397516199
|
0.00001
|
|
NM_000257.4(MYH7):c.4042G>A (p.Glu1348Lys)
|
rs1275262402
|
0.00001
|
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
|
NM_000257.4(MYH7):c.4219G>A (p.Val1407Ile)
|
rs730880795
|
0.00001
|
|
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=)
|
rs148788346
|
0.00001
|
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
|
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)
|
rs745414245
|
0.00001
|
|
NM_000257.4(MYH7):c.4353+20C>T
|
rs199912646
|
0.00001
|
|
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp)
|
rs1351661186
|
0.00001
|
|
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala)
|
rs397516218
|
0.00001
|
|
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu)
|
rs397516221
|
0.00001
|
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
|
NM_000257.4(MYH7):c.4659C>T (p.His1553=)
|
rs570079347
|
0.00001
|
|
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln)
|
rs730880806
|
0.00001
|
|
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln)
|
rs1257980330
|
0.00001
|
|
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)
|
rs730880809
|
0.00001
|
|
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys)
|
rs200530211
|
0.00001
|
|
NM_000257.4(MYH7):c.493A>G (p.Met165Val)
|
rs730880839
|
0.00001
|
|
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)
|
rs753115999
|
0.00001
|
|
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)
|
rs730880914
|
0.00001
|
|
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys)
|
rs1358888752
|
0.00001
|
|
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys)
|
rs730880915
|
0.00001
|
|
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His)
|
rs772008016
|
0.00001
|
|
NM_000257.4(MYH7):c.5157G>A (p.Gln1719=)
|
rs769875223
|
0.00001
|
|
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr)
|
rs144066768
|
0.00001
|
|
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)
|
rs149509691
|
0.00001
|
|
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met)
|
rs727505294
|
0.00001
|
|
NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp)
|
rs748598020
|
0.00001
|
|
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)
|
rs760187215
|
0.00001
|
|
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp)
|
rs763073072
|
0.00001
|
|
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr)
|
rs143362532
|
0.00001
|
|
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr)
|
rs149193520
|
0.00001
|
|
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)
|
rs730880821
|
0.00001
|
|
NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp)
|
rs376668612
|
0.00001
|
|
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)
|
rs45520836
|
0.00001
|
|
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)
|
rs730880824
|
0.00001
|
|
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)
|
rs121913652
|
0.00001
|
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
|
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=)
|
rs730880727
|
0.00001
|
|
NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala)
|
rs1295948508
|
0.00001
|
|
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln)
|
rs397516253
|
0.00001
|
|
NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr)
|
rs747451109
|
0.00001
|
|
NM_000257.4(MYH7):c.5774G>A (p.Arg1925His)
|
rs752553589
|
0.00001
|
|
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=)
|
rs397516257
|
0.00001
|
|
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys)
|
rs397516259
|
0.00001
|
|
NM_000257.4(MYH7):c.639+13C>T
|
rs1346778409
|
0.00001
|
|
NM_000257.4(MYH7):c.68G>A (p.Arg23Gln)
|
rs1169518192
|
0.00001
|
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
|
NM_000257.4(MYH7):c.76G>A (p.Ala26Thr)
|
rs775643803
|
0.00001
|
|
NM_000257.4(MYH7):c.801T>C (p.Leu267=)
|
rs1171861442
|
0.00001
|
|
NM_000257.4(MYH7):c.969T>G (p.Ile323Met)
|
rs730880861
|
0.00001
|
|
NM_001130965.3(SUN1):c.1018A>G (p.Lys340Glu)
|
rs770728287
|
0.00001
|
|
NM_001130965.3(SUN1):c.1053+13A>G
|
rs1823649625
|
0.00001
|
|
NM_001130965.3(SUN1):c.1072C>A (p.Pro358Thr)
|
rs1402655652
|
0.00001
|
|
NM_001130965.3(SUN1):c.1075T>G (p.Trp359Gly)
|
rs1824104633
|
0.00001
|
|
NM_001130965.3(SUN1):c.1112C>T (p.Ser371Phe)
|
rs779987779
|
0.00001
|
|
NM_001130965.3(SUN1):c.1137T>C (p.His379=)
|
rs1275509881
|
0.00001
|
|
NM_001130965.3(SUN1):c.1194C>T (p.Asp398=)
|
rs1403321463
|
0.00001
|
|
NM_001130965.3(SUN1):c.1195C>T (p.Gln399Ter)
|
rs1287838591
|
0.00001
|
|
NM_001130965.3(SUN1):c.1209C>T (p.Gly403=)
|
rs376921792
|
0.00001
|
|
NM_001130965.3(SUN1):c.1263+12C>T
|
rs777780305
|
0.00001
|
|
NM_001130965.3(SUN1):c.1270T>C (p.Phe424Leu)
|
rs548117640
|
0.00001
|
|
NM_001130965.3(SUN1):c.1400T>C (p.Val467Ala)
|
rs1191867046
|
0.00001
|
|
NM_001130965.3(SUN1):c.1483G>A (p.Val495Met)
|
rs750763397
|
0.00001
|
|
NM_001130965.3(SUN1):c.148C>T (p.Arg50Trp)
|
rs1019819580
|
0.00001
|
|
NM_001130965.3(SUN1):c.1512C>T (p.Ala504=)
|
rs748209663
|
0.00001
|
|
NM_001130965.3(SUN1):c.1525-4C>T
|
rs1831070967
|
0.00001
|
|
NM_001130965.3(SUN1):c.1582G>T (p.Gly528Cys)
|
rs549897796
|
0.00001
|
|
NM_001130965.3(SUN1):c.1634G>T (p.Gly545Val)
|
rs751586546
|
0.00001
|
|
NM_001130965.3(SUN1):c.1679G>A (p.Arg560Gln)
|
rs374707736
|
0.00001
|
|
NM_001130965.3(SUN1):c.1696G>A (p.Val566Ile)
|
rs910379771
|
0.00001
|
|
NM_001130965.3(SUN1):c.16C>A (p.Leu6Ile)
|
rs777969470
|
0.00001
|
|
NM_001130965.3(SUN1):c.1749C>T (p.Ser583=)
|
rs780539401
|
0.00001
|
|
NM_001130965.3(SUN1):c.1755G>A (p.Ala585=)
|
rs749583423
|
0.00001
|
|
NM_001130965.3(SUN1):c.1779+10C>A
|
rs751444425
|
0.00001
|
|
NM_001130965.3(SUN1):c.1785A>T (p.Ala595=)
|
rs1554264398
|
0.00001
|
|
NM_001130965.3(SUN1):c.1827T>C (p.Asp609=)
|
rs1351990939
|
0.00001
|
|
NM_001130965.3(SUN1):c.189C>T (p.Cys63=)
|
rs764562577
|
0.00001
|
|
NM_001130965.3(SUN1):c.1955C>T (p.Ser652Leu)
|
rs747017149
|
0.00001
|
|
NM_001130965.3(SUN1):c.1980+10C>T
|
rs750855204
|
0.00001
|
|
NM_001130965.3(SUN1):c.1980+13C>T
|
rs367667307
|
0.00001
|
|
NM_001130965.3(SUN1):c.1980+20C>T
|
rs755016066
|
0.00001
|
|
NM_001130965.3(SUN1):c.2115C>T (p.Asn705=)
|
rs1265067455
|
0.00001
|
|
NM_001130965.3(SUN1):c.2124C>T (p.Ser708=)
|
rs376370215
|
0.00001
|
|
NM_001130965.3(SUN1):c.2139C>T (p.Phe713=)
|
rs777094056
|
0.00001
|
|
NM_001130965.3(SUN1):c.2140G>A (p.Ala714Thr)
|
rs759639292
|
0.00001
|
|
NM_001130965.3(SUN1):c.2254G>A (p.Asp752Asn)
|
rs768700424
|
0.00001
|
|
NM_001130965.3(SUN1):c.225C>T (p.Ser75=)
|
rs777759377
|
0.00001
|
|
NM_001130965.3(SUN1):c.2281C>T (p.Arg761Trp)
|
rs769875681
|
0.00001
|
|
NM_001130965.3(SUN1):c.2307T>C (p.Pro769=)
|
rs201787522
|
0.00001
|
|
NM_001130965.3(SUN1):c.2348C>A (p.Pro783His)
|
rs755364227
|
0.00001
|
|
NM_001130965.3(SUN1):c.238G>A (p.Ala80Thr)
|
rs775882448
|
0.00001
|
|
NM_001130965.3(SUN1):c.296A>G (p.Lys99Arg)
|
rs1203009448
|
0.00001
|
|
NM_001130965.3(SUN1):c.346G>A (p.Val116Ile)
|
rs374613091
|
0.00001
|
|
NM_001130965.3(SUN1):c.363T>C (p.Thr121=)
|
rs1266147950
|
0.00001
|
|
NM_001130965.3(SUN1):c.368G>C (p.Ser123Thr)
|
rs1320668240
|
0.00001
|
|
NM_001130965.3(SUN1):c.429G>A (p.Gln143=)
|
rs776271425
|
0.00001
|
|
NM_001130965.3(SUN1):c.435A>G (p.Thr145=)
|
rs372424923
|
0.00001
|
|
NM_001130965.3(SUN1):c.451+7C>T
|
rs764595368
|
0.00001
|
|
NM_001130965.3(SUN1):c.478+9T>C
|
rs1811934380
|
0.00001
|
|
NM_001130965.3(SUN1):c.479-15G>A
|
rs1191123208
|
0.00001
|
|
NM_001130965.3(SUN1):c.531C>T (p.Ala177=)
|
rs1264934996
|
0.00001
|
|
NM_001130965.3(SUN1):c.536C>T (p.Ala179Val)
|
rs368473097
|
0.00001
|
|
NM_001130965.3(SUN1):c.592C>T (p.Leu198Phe)
|
rs778995671
|
0.00001
|
|
NM_001130965.3(SUN1):c.607G>A (p.Ala203Thr)
|
rs370867004
|
0.00001
|
|
NM_001130965.3(SUN1):c.616G>A (p.Gly206Arg)
|
rs375261890
|
0.00001
|
|
NM_001130965.3(SUN1):c.656A>T (p.Lys219Ile)
|
rs774555940
|
0.00001
|
|
NM_001130965.3(SUN1):c.682C>T (p.Arg228Cys)
|
rs772936422
|
0.00001
|
|
NM_001130965.3(SUN1):c.690C>T (p.Ile230=)
|
rs765886591
|
0.00001
|
|
NM_001130965.3(SUN1):c.758-9C>A
|
rs776447528
|
0.00001
|
|
NM_001130965.3(SUN1):c.767C>T (p.Ala256Val)
|
rs775206908
|
0.00001
|
|
NM_001130965.3(SUN1):c.773G>T (p.Gly258Val)
|
rs1423385703
|
0.00001
|
|
NM_001130965.3(SUN1):c.815C>G (p.Thr272Ser)
|
rs565641706
|
0.00001
|
|
NM_001130965.3(SUN1):c.849C>T (p.Thr283=)
|
rs534584477
|
0.00001
|
|
NM_001130965.3(SUN1):c.852-7C>G
|
rs372242822
|
0.00001
|
|
NM_001130965.3(SUN1):c.914G>A (p.Gly305Asp)
|
rs781390393
|
0.00001
|
|
NM_001130965.3(SUN1):c.934G>A (p.Gly312Ser)
|
rs768858283
|
0.00001
|
|
NM_001130965.3(SUN1):c.938A>G (p.Asn313Ser)
|
rs774636827
|
0.00001
|
|
NM_001130965.3(SUN1):c.947C>T (p.Ser316Leu)
|
rs1445945190
|
0.00001
|
|
NM_001130965.3(SUN1):c.957C>T (p.Pro319=)
|
rs749410045
|
0.00001
|
|
NM_001159699.2(FHL1):c.110A>G (p.Gln37Arg)
|
rs1187549360
|
0.00001
|
|
NM_001159699.2(FHL1):c.118G>A (p.Gly40Ser)
|
rs772911535
|
0.00001
|
|
NM_001159699.2(FHL1):c.137A>G (p.Lys46Arg)
|
rs1226091388
|
0.00001
|
|
NM_001159699.2(FHL1):c.148A>G (p.Lys50Glu)
|
rs754421860
|
0.00001
|
|
NM_001159699.2(FHL1):c.159C>T (p.Ala53=)
|
rs1458693544
|
0.00001
|
|
NM_001159699.2(FHL1):c.165C>T (p.Thr55=)
|
rs770499208
|
0.00001
|
|
NM_001159699.2(FHL1):c.168T>C (p.Cys56=)
|
rs1192668098
|
0.00001
|
|
NM_001159699.2(FHL1):c.189C>T (p.Ile63=)
|
rs1424503926
|
0.00001
|
|
NM_001159699.2(FHL1):c.194C>T (p.Ala65Val)
|
rs372301312
|
0.00001
|
|
NM_001159699.2(FHL1):c.195G>A (p.Ala65=)
|
rs1394298803
|
0.00001
|
|
NM_001159699.2(FHL1):c.204+6G>A
|
rs763404867
|
0.00001
|
|
NM_001159699.2(FHL1):c.213C>T (p.His71=)
|
rs917304507
|
0.00001
|
|
NM_001159699.2(FHL1):c.239C>T (p.Thr80Ile)
|
rs746834335
|
0.00001
|
|
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser)
|
rs774919566
|
0.00001
|
|
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys)
|
rs762126486
|
0.00001
|
|
NM_001159699.2(FHL1):c.322T>A (p.Cys108Ser)
|
rs1375411779
|
0.00001
|
|
NM_001159699.2(FHL1):c.379+8C>T
|
rs1278172802
|
0.00001
|
|
NM_001159699.2(FHL1):c.380-9C>A
|
rs766762163
|
0.00001
|
|
NM_001159699.2(FHL1):c.401A>C (p.Lys134Thr)
|
rs1457366238
|
0.00001
|
|
NM_001159699.2(FHL1):c.457G>A (p.Gly153Arg)
|
rs191071512
|
0.00001
|
|
NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn)
|
rs1157004659
|
0.00001
|
|
NM_001159699.2(FHL1):c.499G>A (p.Val167Met)
|
rs1332573754
|
0.00001
|
|
NM_001159699.2(FHL1):c.501G>A (p.Val167=)
|
rs765313795
|
0.00001
|
|
NM_001159699.2(FHL1):c.519G>A (p.Lys173=)
|
rs750331409
|
0.00001
|
|
NM_001159699.2(FHL1):c.531T>C (p.His177=)
|
rs1268549852
|
0.00001
|
|
NM_001159699.2(FHL1):c.537G>C (p.Val179=)
|
rs753535765
|
0.00001
|
|
NM_001159699.2(FHL1):c.549+5G>A
|
rs747714932
|
0.00001
|
|
NM_001159699.2(FHL1):c.550-10C>T
|
rs376922604
|
0.00001
|
|
NM_001159699.2(FHL1):c.550-4C>T
|
rs1188178386
|
0.00001
|
|
NM_001159699.2(FHL1):c.551C>T (p.Ala184Val)
|
rs753677369
|
0.00001
|
|
NM_001159699.2(FHL1):c.579G>C (p.Gln193His)
|
rs2073910764
|
0.00001
|
|
NM_001159699.2(FHL1):c.607G>T (p.Val203Leu)
|
rs1300278653
|
0.00001
|
|
NM_001159699.2(FHL1):c.60G>A (p.Lys20=)
|
rs1297632047
|
0.00001
|
|
NM_001159699.2(FHL1):c.708G>A (p.Lys236=)
|
rs1253823085
|
0.00001
|
|
NM_001159699.2(FHL1):c.711T>C (p.Cys237=)
|
rs757798011
|
0.00001
|
|
NM_001159699.2(FHL1):c.728C>A (p.Pro243His)
|
rs746311721
|
0.00001
|
|
NM_001159699.2(FHL1):c.729C>G (p.Pro243=)
|
rs1060504733
|
0.00001
|
|
NM_001159699.2(FHL1):c.736+18T>C
|
rs774416768
|
0.00001
|
|
NM_001159699.2(FHL1):c.737-14T>C
|
rs769912263
|
0.00001
|
|
NM_001159699.2(FHL1):c.737-2dup
|
rs752156219
|
0.00001
|
|
NM_001159699.2(FHL1):c.767A>C (p.Tyr256Ser)
|
rs1161827184
|
0.00001
|
|
NM_001159699.2(FHL1):c.789C>T (p.Asp263=)
|
rs1057523997
|
0.00001
|
|
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
0.00001
|
|
NM_001159699.2(FHL1):c.836G>A (p.Arg279His)
|
rs377071251
|
0.00001
|
|
NM_001159699.2(FHL1):c.861G>T (p.Val287=)
|
rs886043219
|
0.00001
|
|
NM_001159699.2(FHL1):c.863A>T (p.Tyr288Phe)
|
rs760214177
|
0.00001
|
|
NM_001159699.2(FHL1):c.870C>T (p.Pro290=)
|
rs775356347
|
0.00001
|
|
NM_001159699.2(FHL1):c.88T>C (p.Leu30=)
|
rs1313810606
|
0.00001
|
|
NM_001159702.3(FHL1):c.714C>T (p.Ser238=)
|
rs780429969
|
0.00001
|
|
NM_001159702.3(FHL1):c.797G>A (p.Arg266Gln)
|
rs199818971
|
0.00001
|
|
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His)
|
rs775496863
|
0.00001
|
|
NM_001347702.2(SYNE1):c.1447A>T (p.Met483Leu)
|
rs372305836
|
0.00001
|
|
NM_005572.3(LMNA):c.-210T>C
|
rs886045356
|
0.00001
|
|
NM_005572.4(LMNA):c.1715G>A (p.Arg572His)
|
rs1158300738
|
0.00001
|
|
NM_015374.3(SUN2):c.1023T>C (p.Ala341=)
|
rs762795807
|
0.00001
|
|
NM_015374.3(SUN2):c.1047G>A (p.Arg349=)
|
rs768221118
|
0.00001
|
|
NM_015374.3(SUN2):c.109G>A (p.Asp37Asn)
|
rs569556638
|
0.00001
|
|
NM_015374.3(SUN2):c.1153G>A (p.Glu385Lys)
|
rs1451970985
|
0.00001
|
|
NM_015374.3(SUN2):c.1173G>C (p.Leu391=)
|
rs771977029
|
0.00001
|
|
NM_015374.3(SUN2):c.1270G>A (p.Glu424Lys)
|
rs370825322
|
0.00001
|
|
NM_015374.3(SUN2):c.1299C>T (p.Ser433=)
|
rs1442161052
|
0.00001
|
|
NM_015374.3(SUN2):c.1359G>A (p.Val453=)
|
rs745348691
|
0.00001
|
|
NM_015374.3(SUN2):c.1373C>T (p.Pro458Leu)
|
rs781480505
|
0.00001
|
|
NM_015374.3(SUN2):c.1422G>C (p.Gly474=)
|
rs1603217338
|
0.00001
|
|
NM_015374.3(SUN2):c.1509G>A (p.Ser503=)
|
rs767238921
|
0.00001
|
|
NM_015374.3(SUN2):c.1553A>G (p.Glu518Gly)
|
rs1417867039
|
0.00001
|
|
NM_015374.3(SUN2):c.1633G>A (p.Gly545Arg)
|
rs758076166
|
0.00001
|
|
NM_015374.3(SUN2):c.1645_1648dup (p.Ala550fs)
|
rs1284194276
|
0.00001
|
|
NM_015374.3(SUN2):c.1746G>T (p.Trp582Cys)
|
rs1370457089
|
0.00001
|
|
NM_015374.3(SUN2):c.1766G>A (p.Arg589Gln)
|
rs1446967356
|
0.00001
|
|
NM_015374.3(SUN2):c.1869C>T (p.Ala623=)
|
rs762930089
|
0.00001
|
|
NM_015374.3(SUN2):c.1920C>T (p.Ser640=)
|
rs779490476
|
0.00001
|
|
NM_015374.3(SUN2):c.1990A>C (p.Lys664Gln)
|
rs1285036282
|
0.00001
|
|
NM_015374.3(SUN2):c.2039A>G (p.Gln680Arg)
|
rs1486287848
|
0.00001
|
|
NM_015374.3(SUN2):c.2041G>A (p.Ala681Thr)
|
rs559096453
|
0.00001
|
|
NM_015374.3(SUN2):c.231G>A (p.Glu77=)
|
rs760297349
|
0.00001
|
|
NM_015374.3(SUN2):c.247A>G (p.Arg83Gly)
|
rs1474913633
|
0.00001
|
|
NM_015374.3(SUN2):c.269A>G (p.His90Arg)
|
rs2092943342
|
0.00001
|
|
NM_015374.3(SUN2):c.282C>A (p.Asn94Lys)
|
rs750454076
|
0.00001
|
|
NM_015374.3(SUN2):c.342G>A (p.Arg114=)
|
rs773389007
|
0.00001
|
|
NM_015374.3(SUN2):c.357G>A (p.Val119=)
|
rs1603229883
|
0.00001
|
|
NM_015374.3(SUN2):c.361C>T (p.Arg121Cys)
|
rs201794535
|
0.00001
|
|
NM_015374.3(SUN2):c.364A>G (p.Lys122Glu)
|
rs746753110
|
0.00001
|
|
NM_015374.3(SUN2):c.41G>T (p.Gly14Val)
|
rs1461986386
|
0.00001
|
|
NM_015374.3(SUN2):c.421G>A (p.Val141Met)
|
rs1435451030
|
0.00001
|
|
NM_015374.3(SUN2):c.425-12C>T
|
rs773495171
|
0.00001
|
|
NM_015374.3(SUN2):c.474C>T (p.Ala158=)
|
rs1211809169
|
0.00001
|
|
NM_015374.3(SUN2):c.504G>A (p.Met168Ile)
|
rs779478954
|
0.00001
|
|
NM_015374.3(SUN2):c.515C>T (p.Ser172Leu)
|
rs760739182
|
0.00001
|
|
NM_015374.3(SUN2):c.549G>A (p.Trp183Ter)
|
rs746473215
|
0.00001
|
|
NM_015374.3(SUN2):c.57C>T (p.Ser19=)
|
rs374169188
|
0.00001
|
|
NM_015374.3(SUN2):c.603C>T (p.Phe201=)
|
rs1048872109
|
0.00001
|
|
NM_015374.3(SUN2):c.728C>T (p.Pro243Leu)
|
rs2092899305
|
0.00001
|
|
NM_015374.3(SUN2):c.759C>G (p.Asp253Glu)
|
rs375173070
|
0.00001
|
|
NM_015374.3(SUN2):c.77C>T (p.Ser26Leu)
|
rs150683665
|
0.00001
|
|
NM_015374.3(SUN2):c.828T>C (p.Val276=)
|
rs758769460
|
0.00001
|
|
NM_015374.3(SUN2):c.835C>T (p.Arg279Trp)
|
rs1187777425
|
0.00001
|
|
NM_015374.3(SUN2):c.885C>T (p.Ser295=)
|
rs537062653
|
0.00001
|
|
NM_015374.3(SUN2):c.996G>A (p.Leu332=)
|
rs1228066052
|
0.00001
|
|
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser)
|
rs565997790
|
0.00001
|
|
NM_024334.3(TMEM43):c.1115G>A (p.Arg372Gln)
|
rs749140979
|
0.00001
|
|
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp)
|
rs765762863
|
0.00001
|
|
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly)
|
rs1225730180
|
0.00001
|
|
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala)
|
rs148171303
|
0.00001
|
|
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val)
|
rs553757132
|
0.00001
|
|
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg)
|
rs746183974
|
0.00001
|
|
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)
|
rs374202326
|
0.00001
|
|
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala)
|
rs751419150
|
0.00001
|
|
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys)
|
rs150478052
|
0.00001
|
|
NM_024334.3(TMEM43):c.90C>T (p.Ser30=)
|
rs373839281
|
0.00001
|
|
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro)
|
rs1431861933
|
0.00001
|
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
|
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile)
|
rs587777892
|
0.00001
|
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
|
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
|
rs397517889
|
0.00001
|
|
NM_170707.4(LMNA):c.1155G>A (p.Glu385=)
|
rs878855232
|
0.00001
|
|
NM_170707.4(LMNA):c.1157+19G>A
|
rs757715731
|
0.00001
|
|
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu)
|
rs267607561
|
0.00001
|
|
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172
|
0.00001
|
|
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys)
|
rs727504852
|
0.00001
|
|
NM_170707.4(LMNA):c.1280G>A (p.Arg427His)
|
rs747139279
|
0.00001
|
|
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly)
|
rs1651628416
|
0.00001
|
|
NM_170707.4(LMNA):c.12G>A (p.Pro4=)
|
rs369823958
|
0.00001
|
|
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr)
|
rs748433620
|
0.00001
|
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
|
NM_170707.4(LMNA):c.1304G>A (p.Arg435His)
|
rs1263919141
|
0.00001
|
|
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala)
|
rs876657849
|
0.00001
|
|
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)
|
rs267607598
|
0.00001
|
|
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys)
|
rs397517892
|
0.00001
|
|
NM_170707.4(LMNA):c.1364G>A (p.Arg455His)
|
rs267607597
|
0.00001
|
|
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr)
|
rs267607642
|
0.00001
|
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
|
NM_170707.4(LMNA):c.153G>T (p.Ser51=)
|
rs751886390
|
0.00001
|
|
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)
|
rs144740174
|
0.00001
|
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
|
NM_170707.4(LMNA):c.1662G>A (p.Glu554=)
|
rs201936898
|
0.00001
|
|
NM_170707.4(LMNA):c.1699-9C>T
|
rs776616872
|
0.00001
|
|
NM_170707.4(LMNA):c.1731T>C (p.Ala577=)
|
rs776066211
|
0.00001
|
|
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)
|
rs57830985
|
0.00001
|
|
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys)
|
rs578193315
|
0.00001
|
|
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)
|
rs56657623
|
0.00001
|
|
NM_170707.4(LMNA):c.1765G>A (p.Gly589Arg)
|
rs372201662
|
0.00001
|
|
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg)
|
rs786205448
|
0.00001
|
|
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)
|
rs397517898
|
0.00001
|
|
NM_170707.4(LMNA):c.1867A>G (p.Thr623Ala)
|
rs757888891
|
0.00001
|
|
NM_170707.4(LMNA):c.1871G>A (p.Arg624His)
|
rs13768
|
0.00001
|
|
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)
|
rs899373360
|
0.00001
|
|
NM_170707.4(LMNA):c.1880G>A (p.Arg627His)
|
rs745997478
|
0.00001
|
|
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser)
|
rs951584348
|
0.00001
|
|
NM_170707.4(LMNA):c.23G>A (p.Arg8His)
|
rs1329278578
|
0.00001
|
|
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly)
|
rs1441670218
|
0.00001
|
|
NM_170707.4(LMNA):c.369G>A (p.Lys123=)
|
rs367938270
|
0.00001
|
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
|
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys)
|
rs760743233
|
0.00001
|
|
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)
|
rs370200334
|
0.00001
|
|
NM_170707.4(LMNA):c.514-11C>T
|
rs886045365
|
0.00001
|
|
NM_170707.4(LMNA):c.540G>A (p.Lys180=)
|
rs1437725392
|
0.00001
|
|
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)
|
rs267607626
|
0.00001
|
|
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)
|
rs1016767319
|
0.00001
|
|
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)
|
rs60682848
|
0.00001
|
|
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)
|
rs1195524446
|
0.00001
|
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
|
NM_170707.4(LMNA):c.768G>A (p.Val256=)
|
rs794728593
|
0.00001
|
|
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn)
|
rs1553265438
|
0.00001
|
|
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)
|
rs1212920276
|
0.00001
|
|
NM_170707.4(LMNA):c.96G>A (p.Lys32=)
|
rs775429079
|
0.00001
|
|
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)
|
rs775159300
|
0.00001
|
|
NM_182914.2(SYNE2):c.-202G>C
|
rs552973060
|
0.00001
|
|
NM_182914.3(SYNE2):c.*372T>C
|
rs964393717
|
0.00001
|
|
NM_182914.3(SYNE2):c.*489C>A
|
rs886050607
|
0.00001
|
|
NM_182914.3(SYNE2):c.*734T>A
|
rs886050610
|
0.00001
|
|
NM_182914.3(SYNE2):c.-107G>A
|
rs886050577
|
0.00001
|
|
NM_182914.3(SYNE2):c.10073T>G (p.Leu3358Arg)
|
rs752681009
|
0.00001
|
|
NM_182914.3(SYNE2):c.10095A>G (p.Arg3365=)
|
rs756893550
|
0.00001
|
|
NM_182914.3(SYNE2):c.10195C>T (p.Arg3399Cys)
|
rs528064472
|
0.00001
|
|
NM_182914.3(SYNE2):c.10201G>C (p.Glu3401Gln)
|
rs935239194
|
0.00001
|
|
NM_182914.3(SYNE2):c.10237A>T (p.Thr3413Ser)
|
rs780825872
|
0.00001
|
|
NM_182914.3(SYNE2):c.10275A>C (p.Arg3425Ser)
|
rs886285721
|
0.00001
|
|
NM_182914.3(SYNE2):c.10303G>T (p.Asp3435Tyr)
|
rs931738357
|
0.00001
|
|
NM_182914.3(SYNE2):c.10308C>T (p.Gly3436=)
|
rs1408955404
|
0.00001
|
|
NM_182914.3(SYNE2):c.10332G>A (p.Ser3444=)
|
rs1200933436
|
0.00001
|
|
NM_182914.3(SYNE2):c.10386G>A (p.Met3462Ile)
|
rs780632525
|
0.00001
|
|
NM_182914.3(SYNE2):c.10432-5A>G
|
rs778528402
|
0.00001
|
|
NM_182914.3(SYNE2):c.10536C>A (p.Asp3512Glu)
|
rs557133901
|
0.00001
|
|
NM_182914.3(SYNE2):c.1063G>T (p.Asp355Tyr)
|
rs765413747
|
0.00001
|
|
NM_182914.3(SYNE2):c.10697+35T>G
|
rs1392162624
|
0.00001
|
|
NM_182914.3(SYNE2):c.10802A>G (p.Gln3601Arg)
|
rs759503520
|
0.00001
|
|
NM_182914.3(SYNE2):c.10910A>G (p.Asn3637Ser)
|
rs753086381
|
0.00001
|
|
NM_182914.3(SYNE2):c.10965A>G (p.Ala3655=)
|
rs762605398
|
0.00001
|
|
NM_182914.3(SYNE2):c.10990T>C (p.Cys3664Arg)
|
rs372299859
|
0.00001
|
|
NM_182914.3(SYNE2):c.11023-10T>C
|
rs1485815530
|
0.00001
|
|
NM_182914.3(SYNE2):c.11023-24_11023-9del
|
rs756704685
|
0.00001
|
|
NM_182914.3(SYNE2):c.11027G>A (p.Ser3676Asn)
|
rs200505107
|
0.00001
|
|
NM_182914.3(SYNE2):c.11071A>G (p.Lys3691Glu)
|
rs147104686
|
0.00001
|
|
NM_182914.3(SYNE2):c.11084T>C (p.Ile3695Thr)
|
rs774045803
|
0.00001
|
|
NM_182914.3(SYNE2):c.11163+7T>C
|
rs1439914153
|
0.00001
|
|
NM_182914.3(SYNE2):c.11174A>G (p.Asp3725Gly)
|
rs1595379549
|
0.00001
|
|
NM_182914.3(SYNE2):c.11229C>T (p.Asp3743=)
|
rs779841354
|
0.00001
|
|
NM_182914.3(SYNE2):c.11389A>G (p.Thr3797Ala)
|
rs1323998717
|
0.00001
|
|
NM_182914.3(SYNE2):c.11411C>G (p.Thr3804Ser)
|
rs367893963
|
0.00001
|
|
NM_182914.3(SYNE2):c.11468A>G (p.His3823Arg)
|
rs745526712
|
0.00001
|
|
NM_182914.3(SYNE2):c.11488G>T (p.Ala3830Ser)
|
rs2097574430
|
0.00001
|
|
NM_182914.3(SYNE2):c.11508G>C (p.Gln3836His)
|
rs1315959283
|
0.00001
|
|
NM_182914.3(SYNE2):c.11528C>T (p.Ser3843Leu)
|
rs757893794
|
0.00001
|
|
NM_182914.3(SYNE2):c.1152A>G (p.Leu384=)
|
rs1379407865
|
0.00001
|
|
NM_182914.3(SYNE2):c.11539G>A (p.Asp3847Asn)
|
rs376684112
|
0.00001
|
|
NM_182914.3(SYNE2):c.11656C>G (p.Gln3886Glu)
|
rs1235280357
|
0.00001
|
|
NM_182914.3(SYNE2):c.11660G>A (p.Arg3887Gln)
|
rs181798411
|
0.00001
|
|
NM_182914.3(SYNE2):c.11670+8T>G
|
rs758440569
|
0.00001
|
|
NM_182914.3(SYNE2):c.11670+9G>A
|
rs780011944
|
0.00001
|
|
NM_182914.3(SYNE2):c.11702C>T (p.Ser3901Leu)
|
rs1311942649
|
0.00001
|
|
NM_182914.3(SYNE2):c.11725A>C (p.Ile3909Leu)
|
rs1484721302
|
0.00001
|
|
NM_182914.3(SYNE2):c.11879G>A (p.Gly3960Glu)
|
rs775836079
|
0.00001
|
|
NM_182914.3(SYNE2):c.11905C>T (p.Arg3969Trp)
|
rs141498263
|
0.00001
|
|
NM_182914.3(SYNE2):c.11956G>A (p.Glu3986Lys)
|
rs779441612
|
0.00001
|
|
NM_182914.3(SYNE2):c.12118G>A (p.Glu4040Lys)
|
rs1245656240
|
0.00001
|
|
NM_182914.3(SYNE2):c.12253G>T (p.Ala4085Ser)
|
rs772564360
|
0.00001
|
|
NM_182914.3(SYNE2):c.12307-9G>A
|
rs376765095
|
0.00001
|
|
NM_182914.3(SYNE2):c.12345C>T (p.Val4115=)
|
rs762079506
|
0.00001
|
|
NM_182914.3(SYNE2):c.12352G>A (p.Glu4118Lys)
|
rs763188798
|
0.00001
|
|
NM_182914.3(SYNE2):c.12368C>G (p.Ser4123Cys)
|
rs759668362
|
0.00001
|
|
NM_182914.3(SYNE2):c.12381+5G>A
|
rs771680833
|
0.00001
|
|
NM_182914.3(SYNE2):c.12461G>A (p.Arg4154Lys)
|
rs1455878545
|
0.00001
|
|
NM_182914.3(SYNE2):c.12510A>G (p.Ile4170Met)
|
rs200113549
|
0.00001
|
|
NM_182914.3(SYNE2):c.12512G>A (p.Ser4171Asn)
|
rs758662885
|
0.00001
|
|
NM_182914.3(SYNE2):c.12537A>G (p.Gln4179=)
|
rs369330578
|
0.00001
|
|
NM_182914.3(SYNE2):c.12539T>G (p.Ile4180Ser)
|
rs780306283
|
0.00001
|
|
NM_182914.3(SYNE2):c.12567G>A (p.Glu4189=)
|
rs191320481
|
0.00001
|
|
NM_182914.3(SYNE2):c.12594C>G (p.Pro4198=)
|
rs770716382
|
0.00001
|
|
NM_182914.3(SYNE2):c.12609+1G>A
|
rs745516407
|
0.00001
|
|
NM_182914.3(SYNE2):c.12618A>C (p.Thr4206=)
|
rs766785640
|
0.00001
|
|
NM_182914.3(SYNE2):c.12739G>A (p.Glu4247Lys)
|
rs886050590
|
0.00001
|
|
NM_182914.3(SYNE2):c.12767A>G (p.Asn4256Ser)
|
rs552966507
|
0.00001
|
|
NM_182914.3(SYNE2):c.12769G>A (p.Val4257Met)
|
rs765323829
|
0.00001
|
|
NM_182914.3(SYNE2):c.12795C>T (p.Asn4265=)
|
rs780647420
|
0.00001
|
|
NM_182914.3(SYNE2):c.12796G>A (p.Ala4266Thr)
|
rs1316995826
|
0.00001
|
|
NM_182914.3(SYNE2):c.12841-10T>C
|
rs1387619527
|
0.00001
|
|
NM_182914.3(SYNE2):c.12841-5C>T
|
rs1425905308
|
0.00001
|
|
NM_182914.3(SYNE2):c.128C>T (p.Ser43Leu)
|
rs754783984
|
0.00001
|
|
NM_182914.3(SYNE2):c.12945T>G (p.Leu4315=)
|
rs1308459272
|
0.00001
|
|
NM_182914.3(SYNE2):c.1298T>C (p.Leu433Pro)
|
rs2096556875
|
0.00001
|
|
NM_182914.3(SYNE2):c.13011C>T (p.His4337=)
|
rs2097882431
|
0.00001
|
|
NM_182914.3(SYNE2):c.13030A>G (p.Thr4344Ala)
|
rs776545846
|
0.00001
|
|
NM_182914.3(SYNE2):c.13160T>C (p.Val4387Ala)
|
rs2097902343
|
0.00001
|
|
NM_182914.3(SYNE2):c.13180G>C (p.Glu4394Gln)
|
rs757620618
|
0.00001
|
|
NM_182914.3(SYNE2):c.1318C>T (p.His440Tyr)
|
rs761844853
|
0.00001
|
|
NM_182914.3(SYNE2):c.13217C>T (p.Ala4406Val)
|
rs1309450077
|
0.00001
|
|
NM_182914.3(SYNE2):c.1323G>A (p.Ser441=)
|
rs765911939
|
0.00001
|
|
NM_182914.3(SYNE2):c.13256A>G (p.Asp4419Gly)
|
rs376129364
|
0.00001
|
|
NM_182914.3(SYNE2):c.13371T>C (p.His4457=)
|
rs778640413
|
0.00001
|
|
NM_182914.3(SYNE2):c.13422+6T>C
|
rs1451114476
|
0.00001
|
|
NM_182914.3(SYNE2):c.13457C>G (p.Thr4486Ser)
|
rs377086810
|
0.00001
|
|
NM_182914.3(SYNE2):c.13459A>G (p.Met4487Val)
|
rs370050400
|
0.00001
|
|
NM_182914.3(SYNE2):c.13463A>G (p.Tyr4488Cys)
|
rs775876760
|
0.00001
|
|
NM_182914.3(SYNE2):c.13466A>G (p.Asn4489Ser)
|
rs747349342
|
0.00001
|
|
NM_182914.3(SYNE2):c.13473A>G (p.Arg4491=)
|
rs886042596
|
0.00001
|
|
NM_182914.3(SYNE2):c.13510C>G (p.Gln4504Glu)
|
rs372861398
|
0.00001
|
|
NM_182914.3(SYNE2):c.13534G>A (p.Ala4512Thr)
|
rs758884582
|
0.00001
|
|
NM_182914.3(SYNE2):c.13554+7G>C
|
rs776811933
|
0.00001
|
|
NM_182914.3(SYNE2):c.13613T>A (p.Leu4538Gln)
|
rs370464923
|
0.00001
|
|
NM_182914.3(SYNE2):c.13622G>A (p.Ser4541Asn)
|
rs375241792
|
0.00001
|
|
NM_182914.3(SYNE2):c.13630C>T (p.Leu4544Phe)
|
rs368105920
|
0.00001
|
|
NM_182914.3(SYNE2):c.13695_13707+2dup
|
rs758985012
|
0.00001
|
|
NM_182914.3(SYNE2):c.13707+3A>G
|
rs201254784
|
0.00001
|
|
NM_182914.3(SYNE2):c.13743G>A (p.Ala4581=)
|
rs543426485
|
0.00001
|
|
NM_182914.3(SYNE2):c.13752C>T (p.Asp4584=)
|
rs770594903
|
0.00001
|
|
NM_182914.3(SYNE2):c.13826A>C (p.Asn4609Thr)
|
rs751525888
|
0.00001
|
|
NM_182914.3(SYNE2):c.1384A>G (p.Lys462Glu)
|
rs753039223
|
0.00001
|
|
NM_182914.3(SYNE2):c.13880C>A (p.Ser4627Tyr)
|
rs2097950027
|
0.00001
|
|
NM_182914.3(SYNE2):c.13964C>T (p.Ser4655Phe)
|
rs758010581
|
0.00001
|
|
NM_182914.3(SYNE2):c.13983T>C (p.Asn4661=)
|
rs200656842
|
0.00001
|
|
NM_182914.3(SYNE2):c.14013G>A (p.Gln4671=)
|
rs1228539994
|
0.00001
|
|
NM_182914.3(SYNE2):c.14028T>C (p.Asp4676=)
|
rs766123007
|
0.00001
|
|
NM_182914.3(SYNE2):c.14063G>A (p.Arg4688Gln)
|
rs188252400
|
0.00001
|
|
NM_182914.3(SYNE2):c.1407-15T>G
|
rs537583390
|
0.00001
|
|
NM_182914.3(SYNE2):c.14110G>T (p.Ala4704Ser)
|
rs886050592
|
0.00001
|
|
NM_182914.3(SYNE2):c.1417A>G (p.Ile473Val)
|
rs755692006
|
0.00001
|
|
NM_182914.3(SYNE2):c.14187A>G (p.Glu4729=)
|
rs149662402
|
0.00001
|
|
NM_182914.3(SYNE2):c.14196C>G (p.Ser4732Arg)
|
rs749317592
|
0.00001
|
|
NM_182914.3(SYNE2):c.14251G>C (p.Val4751Leu)
|
rs768078645
|
0.00001
|
|
NM_182914.3(SYNE2):c.14327T>C (p.Ile4776Thr)
|
rs563179946
|
0.00001
|
|
NM_182914.3(SYNE2):c.1433T>A (p.Phe478Tyr)
|
rs750998654
|
0.00001
|
|
NM_182914.3(SYNE2):c.14393C>T (p.Ala4798Val)
|
rs770006520
|
0.00001
|
|
NM_182914.3(SYNE2):c.14441A>C (p.Glu4814Ala)
|
rs944539742
|
0.00001
|
|
NM_182914.3(SYNE2):c.14451A>G (p.Thr4817=)
|
rs777338731
|
0.00001
|
|
NM_182914.3(SYNE2):c.14460A>C (p.Lys4820Asn)
|
rs574306382
|
0.00001
|
|
NM_182914.3(SYNE2):c.144C>T (p.His48=)
|
rs751515594
|
0.00001
|
|
NM_182914.3(SYNE2):c.14586C>G (p.Pro4862=)
|
rs779659277
|
0.00001
|
|
NM_182914.3(SYNE2):c.1463A>G (p.Lys488Arg)
|
rs1437677917
|
0.00001
|
|
NM_182914.3(SYNE2):c.14643C>T (p.Tyr4881=)
|
rs747393237
|
0.00001
|
|
NM_182914.3(SYNE2):c.1468T>C (p.Leu490=)
|
rs999610655
|
0.00001
|
|
NM_182914.3(SYNE2):c.14755G>A (p.Ala4919Thr)
|
rs781072783
|
0.00001
|
|
NM_182914.3(SYNE2):c.14801A>G (p.His4934Arg)
|
rs758936935
|
0.00001
|
|
NM_182914.3(SYNE2):c.14908T>C (p.Trp4970Arg)
|
rs1442905244
|
0.00001
|
|
NM_182914.3(SYNE2):c.14941T>C (p.Leu4981=)
|
rs376940871
|
0.00001
|
|
NM_182914.3(SYNE2):c.15057A>G (p.Lys5019=)
|
rs778518604
|
0.00001
|
|
NM_182914.3(SYNE2):c.15159+11A>G
|
rs755542471
|
0.00001
|
|
NM_182914.3(SYNE2):c.15159+4A>G
|
rs749960169
|
0.00001
|
|
NM_182914.3(SYNE2):c.15187A>C (p.Lys5063Gln)
|
rs746864967
|
0.00001
|
|
NM_182914.3(SYNE2):c.15206T>C (p.Ile5069Thr)
|
rs200347797
|
0.00001
|
|
NM_182914.3(SYNE2):c.15219C>T (p.Asn5073=)
|
rs762722997
|
0.00001
|
|
NM_182914.3(SYNE2):c.15385G>A (p.Asp5129Asn)
|
rs931728993
|
0.00001
|
|
NM_182914.3(SYNE2):c.15395G>A (p.Ser5132Asn)
|
rs765802633
|
0.00001
|
|
NM_182914.3(SYNE2):c.15404A>G (p.Tyr5135Cys)
|
rs556819169
|
0.00001
|
|
NM_182914.3(SYNE2):c.15458G>A (p.Arg5153His)
|
rs773752983
|
0.00001
|
|
NM_182914.3(SYNE2):c.15474G>A (p.Leu5158=)
|
rs374906011
|
0.00001
|
|
NM_182914.3(SYNE2):c.15484-10A>T
|
rs1442139129
|
0.00001
|
|
NM_182914.3(SYNE2):c.15484-3T>C
|
rs370197641
|
0.00001
|
|
NM_182914.3(SYNE2):c.15484-6A>T
|
rs1009151850
|
0.00001
|
|
NM_182914.3(SYNE2):c.15524G>C (p.Ser5175Thr)
|
rs1277439274
|
0.00001
|
|
NM_182914.3(SYNE2):c.15624G>A (p.Leu5208=)
|
rs371688900
|
0.00001
|
|
NM_182914.3(SYNE2):c.15659C>G (p.Ala5220Gly)
|
rs765911639
|
0.00001
|
|
NM_182914.3(SYNE2):c.15666A>G (p.Lys5222=)
|
rs1212070796
|
0.00001
|
|
NM_182914.3(SYNE2):c.1570-4C>G
|
rs564220213
|
0.00001
|
|
NM_182914.3(SYNE2):c.15700C>A (p.Leu5234Met)
|
rs769634722
|
0.00001
|
|
NM_182914.3(SYNE2):c.15776G>A (p.Ser5259Asn)
|
rs1168529666
|
0.00001
|
|
NM_182914.3(SYNE2):c.15788C>T (p.Thr5263Ile)
|
rs566704933
|
0.00001
|
|
NM_182914.3(SYNE2):c.15810C>T (p.Thr5270=)
|
rs182449286
|
0.00001
|
|
NM_182914.3(SYNE2):c.15859G>A (p.Asp5287Asn)
|
rs188953744
|
0.00001
|
|
NM_182914.3(SYNE2):c.15869A>G (p.Asn5290Ser)
|
rs374774137
|
0.00001
|
|
NM_182914.3(SYNE2):c.15872T>C (p.Met5291Thr)
|
rs776578358
|
0.00001
|
|
NM_182914.3(SYNE2):c.15921G>T (p.Val5307=)
|
rs555313966
|
0.00001
|
|
NM_182914.3(SYNE2):c.16018G>T (p.Val5340Phe)
|
rs200214648
|
0.00001
|
|
NM_182914.3(SYNE2):c.16087C>A (p.His5363Asn)
|
rs1381652852
|
0.00001
|
|
NM_182914.3(SYNE2):c.16184G>A (p.Gly5395Asp)
|
rs775698210
|
0.00001
|
|
NM_182914.3(SYNE2):c.1618C>A (p.Gln540Lys)
|
rs768004294
|
0.00001
|
|
NM_182914.3(SYNE2):c.16378G>A (p.Ala5460Thr)
|
rs775169295
|
0.00001
|
|
NM_182914.3(SYNE2):c.16480-9T>G
|
rs776380039
|
0.00001
|
|
NM_182914.3(SYNE2):c.16494G>C (p.Gln5498His)
|
rs1158224543
|
0.00001
|
|
NM_182914.3(SYNE2):c.16513C>T (p.Arg5505Trp)
|
rs767970692
|
0.00001
|
|
NM_182914.3(SYNE2):c.16550A>G (p.Glu5517Gly)
|
rs765353232
|
0.00001
|
|
NM_182914.3(SYNE2):c.16602C>G (p.Phe5534Leu)
|
rs748802577
|
0.00001
|
|
NM_182914.3(SYNE2):c.16605+10A>G
|
rs761193543
|
0.00001
|
|
NM_182914.3(SYNE2):c.16631A>C (p.Gln5544Pro)
|
rs753694030
|
0.00001
|
|
NM_182914.3(SYNE2):c.16641T>C (p.Asp5547=)
|
rs767615577
|
0.00001
|
|
NM_182914.3(SYNE2):c.16687G>A (p.Val5563Ile)
|
rs756909587
|
0.00001
|
|
NM_182914.3(SYNE2):c.16717C>T (p.Arg5573Trp)
|
rs138323662
|
0.00001
|
|
NM_182914.3(SYNE2):c.16730G>A (p.Arg5577Gln)
|
rs143231145
|
0.00001
|
|
NM_182914.3(SYNE2):c.16771G>A (p.Gly5591Arg)
|
rs979226241
|
0.00001
|
|
NM_182914.3(SYNE2):c.16775T>C (p.Ile5592Thr)
|
rs779437989
|
0.00001
|
|
NM_182914.3(SYNE2):c.16844C>T (p.Ala5615Val)
|
rs372515789
|
0.00001
|
|
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=)
|
rs1490325276
|
0.00001
|
|
NM_182914.3(SYNE2):c.16863T>C (p.Ala5621=)
|
rs200618488
|
0.00001
|
|
NM_182914.3(SYNE2):c.1689G>A (p.Val563=)
|
rs756480117
|
0.00001
|
|
NM_182914.3(SYNE2):c.17008T>A (p.Phe5670Ile)
|
rs750982331
|
0.00001
|
|
NM_182914.3(SYNE2):c.17082C>T (p.Asp5694=)
|
rs973393555
|
0.00001
|
|
NM_182914.3(SYNE2):c.17115C>T (p.Phe5705=)
|
rs1450190172
|
0.00001
|
|
NM_182914.3(SYNE2):c.17183G>T (p.Gly5728Val)
|
rs776657050
|
0.00001
|
|
NM_182914.3(SYNE2):c.17225A>G (p.His5742Arg)
|
rs752227568
|
0.00001
|
|
NM_182914.3(SYNE2):c.17264G>A (p.Arg5755Gln)
|
rs368893421
|
0.00001
|
|
NM_182914.3(SYNE2):c.17287G>A (p.Glu5763Lys)
|
rs1315464944
|
0.00001
|
|
NM_182914.3(SYNE2):c.17334G>T (p.Glu5778Asp)
|
rs1349823978
|
0.00001
|
|
NM_182914.3(SYNE2):c.17430+17C>T
|
rs768432917
|
0.00001
|
|
NM_182914.3(SYNE2):c.17431-3T>C
|
rs886050595
|
0.00001
|
|
NM_182914.3(SYNE2):c.17557-3C>T
|
rs950834812
|
0.00001
|
|
NM_182914.3(SYNE2):c.17560C>A (p.Leu5854Ile)
|
rs773797629
|
0.00001
|
|
NM_182914.3(SYNE2):c.17577T>C (p.Ala5859=)
|
rs1408686631
|
0.00001
|
|
NM_182914.3(SYNE2):c.17745A>G (p.Arg5915=)
|
rs747187442
|
0.00001
|
|
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=)
|
rs886050596
|
0.00001
|
|
NM_182914.3(SYNE2):c.17978A>G (p.Asp5993Gly)
|
rs2098511514
|
0.00001
|
|
NM_182914.3(SYNE2):c.17984A>T (p.Lys5995Met)
|
rs1021795243
|
0.00001
|
|
NM_182914.3(SYNE2):c.18004C>T (p.Arg6002Cys)
|
rs369083384
|
0.00001
|
|
NM_182914.3(SYNE2):c.18005G>A (p.Arg6002His)
|
rs764566778
|
0.00001
|
|
NM_182914.3(SYNE2):c.18013C>A (p.His6005Asn)
|
rs780648179
|
0.00001
|
|
NM_182914.3(SYNE2):c.18015T>C (p.His6005=)
|
rs1323946751
|
0.00001
|
|
NM_182914.3(SYNE2):c.18031G>A (p.Gly6011Arg)
|
rs145257568
|
0.00001
|
|
NM_182914.3(SYNE2):c.18038+5G>A
|
rs1328692834
|
0.00001
|
|
NM_182914.3(SYNE2):c.18038+9T>C
|
rs779922538
|
0.00001
|
|
NM_182914.3(SYNE2):c.18039-13C>A
|
rs763230839
|
0.00001
|
|
NM_182914.3(SYNE2):c.18118C>T (p.Arg6040Ter)
|
rs745320786
|
0.00001
|
|
NM_182914.3(SYNE2):c.18162C>T (p.Cys6054=)
|
rs1340810234
|
0.00001
|
|
NM_182914.3(SYNE2):c.18197A>G (p.Gln6066Arg)
|
rs1185481033
|
0.00001
|
|
NM_182914.3(SYNE2):c.18240G>A (p.Val6080=)
|
rs897434313
|
0.00001
|
|
NM_182914.3(SYNE2):c.18246C>T (p.Ser6082=)
|
rs371505187
|
0.00001
|
|
NM_182914.3(SYNE2):c.18267C>T (p.Val6089=)
|
rs1303670860
|
0.00001
|
|
NM_182914.3(SYNE2):c.18283G>A (p.Asp6095Asn)
|
rs1018261125
|
0.00001
|
|
NM_182914.3(SYNE2):c.18346C>T (p.Arg6116Cys)
|
rs762858190
|
0.00001
|
|
NM_182914.3(SYNE2):c.1836+6T>G
|
rs780035873
|
0.00001
|
|
NM_182914.3(SYNE2):c.1837-4G>T
|
rs1351178002
|
0.00001
|
|
NM_182914.3(SYNE2):c.1837G>A (p.Val613Ile)
|
rs761093953
|
0.00001
|
|
NM_182914.3(SYNE2):c.18393C>T (p.Ile6131=)
|
rs370317926
|
0.00001
|
|
NM_182914.3(SYNE2):c.18402G>A (p.Thr6134=)
|
rs374459819
|
0.00001
|
|
NM_182914.3(SYNE2):c.1842C>T (p.Pro614=)
|
rs1192547176
|
0.00001
|
|
NM_182914.3(SYNE2):c.18509C>T (p.Thr6170Met)
|
rs200893937
|
0.00001
|
|
NM_182914.3(SYNE2):c.18631A>G (p.Thr6211Ala)
|
rs759557576
|
0.00001
|
|
NM_182914.3(SYNE2):c.18633G>A (p.Thr6211=)
|
rs755914136
|
0.00001
|
|
NM_182914.3(SYNE2):c.18694C>T (p.Arg6232Trp)
|
rs772056587
|
0.00001
|
|
NM_182914.3(SYNE2):c.18695G>A (p.Arg6232Gln)
|
rs549549436
|
0.00001
|
|
NM_182914.3(SYNE2):c.18717A>G (p.Arg6239=)
|
rs764900964
|
0.00001
|
|
NM_182914.3(SYNE2):c.18723+20G>T
|
rs771206230
|
0.00001
|
|
NM_182914.3(SYNE2):c.18744A>G (p.Glu6248=)
|
rs370847169
|
0.00001
|
|
NM_182914.3(SYNE2):c.18771T>C (p.Ile6257=)
|
rs769603327
|
0.00001
|
|
NM_182914.3(SYNE2):c.18810C>T (p.Asn6270=)
|
rs750950612
|
0.00001
|
|
NM_182914.3(SYNE2):c.18873G>A (p.Gln6291=)
|
rs528469386
|
0.00001
|
|
NM_182914.3(SYNE2):c.18952G>C (p.Asp6318His)
|
rs144627020
|
0.00001
|
|
NM_182914.3(SYNE2):c.19023C>A (p.Ser6341=)
|
rs759765636
|
0.00001
|
|
NM_182914.3(SYNE2):c.19025G>A (p.Arg6342Gln)
|
rs987547244
|
0.00001
|
|
NM_182914.3(SYNE2):c.19033C>T (p.Arg6345Trp)
|
rs752861384
|
0.00001
|
|
NM_182914.3(SYNE2):c.19056+10C>T
|
rs369172478
|
0.00001
|
|
NM_182914.3(SYNE2):c.19057-6G>C
|
rs1404626317
|
0.00001
|
|
NM_182914.3(SYNE2):c.1914C>T (p.Val638=)
|
rs756044885
|
0.00001
|
|
NM_182914.3(SYNE2):c.19160C>T (p.Pro6387Leu)
|
rs756722459
|
0.00001
|
|
NM_182914.3(SYNE2):c.19224C>T (p.Thr6408=)
|
rs372802910
|
0.00001
|
|
NM_182914.3(SYNE2):c.19234G>A (p.Val6412Met)
|
rs755527635
|
0.00001
|
|
NM_182914.3(SYNE2):c.19302C>T (p.Asp6434=)
|
rs370677320
|
0.00001
|
|
NM_182914.3(SYNE2):c.19303G>A (p.Glu6435Lys)
|
rs138111654
|
0.00001
|
|
NM_182914.3(SYNE2):c.19428G>A (p.Ser6476=)
|
rs749018683
|
0.00001
|
|
NM_182914.3(SYNE2):c.19494T>C (p.Asn6498=)
|
rs1381540183
|
0.00001
|
|
NM_182914.3(SYNE2):c.19497T>C (p.Val6499=)
|
rs1176808345
|
0.00001
|
|
NM_182914.3(SYNE2):c.19509C>A (p.Pro6503=)
|
rs1211489077
|
0.00001
|
|
NM_182914.3(SYNE2):c.19542T>C (p.Tyr6514=)
|
rs904364473
|
0.00001
|
|
NM_182914.3(SYNE2):c.19554A>G (p.Leu6518=)
|
rs775682046
|
0.00001
|
|
NM_182914.3(SYNE2):c.19589C>T (p.Pro6530Leu)
|
rs750341136
|
0.00001
|
|
NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp)
|
rs746433383
|
0.00001
|
|
NM_182914.3(SYNE2):c.19625G>A (p.Gly6542Glu)
|
rs772447674
|
0.00001
|
|
NM_182914.3(SYNE2):c.19653G>C (p.Gln6551His)
|
rs762848054
|
0.00001
|
|
NM_182914.3(SYNE2):c.19657+19A>G
|
rs759411356
|
0.00001
|
|
NM_182914.3(SYNE2):c.19679T>C (p.Met6560Thr)
|
rs1016791014
|
0.00001
|
|
NM_182914.3(SYNE2):c.19747A>G (p.Ile6583Val)
|
rs771974044
|
0.00001
|
|
NM_182914.3(SYNE2):c.19773A>G (p.Lys6591=)
|
rs1046553272
|
0.00001
|
|
NM_182914.3(SYNE2):c.19892C>T (p.Ala6631Val)
|
rs747881699
|
0.00001
|
|
NM_182914.3(SYNE2):c.199C>T (p.Leu67Phe)
|
rs954752155
|
0.00001
|
|
NM_182914.3(SYNE2):c.20073G>C (p.Gln6691His)
|
rs1555559928
|
0.00001
|
|
NM_182914.3(SYNE2):c.20115C>G (p.Asn6705Lys)
|
rs199800249
|
0.00001
|
|
NM_182914.3(SYNE2):c.20139C>T (p.Thr6713=)
|
rs765716455
|
0.00001
|
|
NM_182914.3(SYNE2):c.20176C>T (p.Arg6726Trp)
|
rs371271767
|
0.00001
|
|
NM_182914.3(SYNE2):c.20185C>G (p.Leu6729Val)
|
rs771563821
|
0.00001
|
|
NM_182914.3(SYNE2):c.20216G>A (p.Arg6739His)
|
rs532853602
|
0.00001
|
|
NM_182914.3(SYNE2):c.20245A>T (p.Ile6749Phe)
|
rs886050599
|
0.00001
|
|
NM_182914.3(SYNE2):c.20284T>C (p.Cys6762Arg)
|
rs1444525177
|
0.00001
|
|
NM_182914.3(SYNE2):c.20303A>C (p.Lys6768Thr)
|
rs775768707
|
0.00001
|
|
NM_182914.3(SYNE2):c.20315T>C (p.Ile6772Thr)
|
rs1474759634
|
0.00001
|
|
NM_182914.3(SYNE2):c.20381A>G (p.Gln6794Arg)
|
rs751565440
|
0.00001
|
|
NM_182914.3(SYNE2):c.20399T>C (p.Leu6800Pro)
|
rs763134759
|
0.00001
|
|
NM_182914.3(SYNE2):c.20409C>T (p.Phe6803=)
|
rs1233622581
|
0.00001
|
|
NM_182914.3(SYNE2):c.20423C>T (p.Ser6808Leu)
|
rs372922867
|
0.00001
|
|
NM_182914.3(SYNE2):c.20428G>T (p.Asp6810Tyr)
|
rs1370786771
|
0.00001
|
|
NM_182914.3(SYNE2):c.20435C>G (p.Pro6812Arg)
|
rs749898798
|
0.00001
|
|
NM_182914.3(SYNE2):c.20452C>G (p.Pro6818Ala)
|
rs777951739
|
0.00001
|
|
NM_182914.3(SYNE2):c.20511G>A (p.Glu6837=)
|
rs559718346
|
0.00001
|
|
NM_182914.3(SYNE2):c.20517-13C>T
|
rs752222544
|
0.00001
|
|
NM_182914.3(SYNE2):c.20519T>A (p.Val6840Asp)
|
rs758858068
|
0.00001
|
|
NM_182914.3(SYNE2):c.20537C>T (p.Pro6846Leu)
|
rs1323584158
|
0.00001
|
|
NM_182914.3(SYNE2):c.20547C>T (p.Ser6849=)
|
rs371041220
|
0.00001
|
|
NM_182914.3(SYNE2):c.20630C>T (p.Ser6877Phe)
|
rs548596262
|
0.00001
|
|
NM_182914.3(SYNE2):c.20631C>T (p.Ser6877=)
|
rs1473688689
|
0.00001
|
|
NM_182914.3(SYNE2):c.2067T>C (p.Ile689=)
|
rs375396479
|
0.00001
|
|
NM_182914.3(SYNE2):c.20688C>T (p.Pro6896=)
|
rs1419099314
|
0.00001
|
|
NM_182914.3(SYNE2):c.20715C>A (p.Pro6905=)
|
rs765218485
|
0.00001
|
|
NM_182914.3(SYNE2):c.2152-3T>C
|
rs754264426
|
0.00001
|
|
NM_182914.3(SYNE2):c.2234A>G (p.Gln745Arg)
|
rs185674511
|
0.00001
|
|
NM_182914.3(SYNE2):c.2251G>T (p.Ala751Ser)
|
rs773172045
|
0.00001
|
|
NM_182914.3(SYNE2):c.2260A>C (p.Lys754Gln)
|
rs201892861
|
0.00001
|
|
NM_182914.3(SYNE2):c.2300A>T (p.Glu767Val)
|
rs138419017
|
0.00001
|
|
NM_182914.3(SYNE2):c.2314-9T>C
|
rs1351046607
|
0.00001
|
|
NM_182914.3(SYNE2):c.2348T>C (p.Leu783Pro)
|
rs755334815
|
0.00001
|
|
NM_182914.3(SYNE2):c.2362G>A (p.Glu788Lys)
|
rs767773345
|
0.00001
|
|
NM_182914.3(SYNE2):c.2487A>G (p.Lys829=)
|
rs751368683
|
0.00001
|
|
NM_182914.3(SYNE2):c.2493T>G (p.Ile831Met)
|
rs754886522
|
0.00001
|
|
NM_182914.3(SYNE2):c.2517C>T (p.Asp839=)
|
rs776136245
|
0.00001
|
|
NM_182914.3(SYNE2):c.2522C>T (p.Ser841Leu)
|
rs1483737214
|
0.00001
|
|
NM_182914.3(SYNE2):c.2532G>A (p.Leu844=)
|
rs769024558
|
0.00001
|
|
NM_182914.3(SYNE2):c.262T>C (p.Phe88Leu)
|
rs978806035
|
0.00001
|
|
NM_182914.3(SYNE2):c.2781+4A>G
|
rs1941605291
|
0.00001
|
|
NM_182914.3(SYNE2):c.2787T>A (p.Leu929=)
|
rs1422696880
|
0.00001
|
|
NM_182914.3(SYNE2):c.2839G>A (p.Gly947Arg)
|
rs1157242509
|
0.00001
|
|
NM_182914.3(SYNE2):c.28G>A (p.Glu10Lys)
|
rs781375790
|
0.00001
|
|
NM_182914.3(SYNE2):c.2900T>C (p.Ile967Thr)
|
rs1274813668
|
0.00001
|
|
NM_182914.3(SYNE2):c.2940G>A (p.Glu980=)
|
rs559579030
|
0.00001
|
|
NM_182914.3(SYNE2):c.2967G>A (p.Leu989=)
|
rs1166230456
|
0.00001
|
|
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=)
|
rs886050580
|
0.00001
|
|
NM_182914.3(SYNE2):c.3103G>A (p.Glu1035Lys)
|
rs770698687
|
0.00001
|
|
NM_182914.3(SYNE2):c.3152+11C>G
|
rs1351316005
|
0.00001
|
|
NM_182914.3(SYNE2):c.3160A>G (p.Ile1054Val)
|
rs773784466
|
0.00001
|
|
NM_182914.3(SYNE2):c.3272T>C (p.Leu1091Pro)
|
rs2096727951
|
0.00001
|
|
NM_182914.3(SYNE2):c.3311T>C (p.Met1104Thr)
|
rs778313924
|
0.00001
|
|
NM_182914.3(SYNE2):c.3325A>G (p.Ser1109Gly)
|
rs982358351
|
0.00001
|
|
NM_182914.3(SYNE2):c.3429T>C (p.Ser1143=)
|
rs752244351
|
0.00001
|
|
NM_182914.3(SYNE2):c.3491A>G (p.Asn1164Ser)
|
rs1187492375
|
0.00001
|
|
NM_182914.3(SYNE2):c.3550G>A (p.Val1184Met)
|
rs377084463
|
0.00001
|
|
NM_182914.3(SYNE2):c.3556G>T (p.Asp1186Tyr)
|
rs898209839
|
0.00001
|
|
NM_182914.3(SYNE2):c.3613G>A (p.Glu1205Lys)
|
rs375217349
|
0.00001
|
|
NM_182914.3(SYNE2):c.3639-1G>C
|
rs1308678682
|
0.00001
|
|
NM_182914.3(SYNE2):c.3639-7C>T
|
rs1372182084
|
0.00001
|
|
NM_182914.3(SYNE2):c.3711G>A (p.Ser1237=)
|
rs773704983
|
0.00001
|
|
NM_182914.3(SYNE2):c.3721C>G (p.Leu1241Val)
|
rs765556164
|
0.00001
|
|
NM_182914.3(SYNE2):c.3787-12T>A
|
rs1321975749
|
0.00001
|
|
NM_182914.3(SYNE2):c.3806C>T (p.Ala1269Val)
|
rs757090585
|
0.00001
|
|
NM_182914.3(SYNE2):c.3951G>T (p.Arg1317Ser)
|
rs911680539
|
0.00001
|
|
NM_182914.3(SYNE2):c.408+8G>A
|
rs753202342
|
0.00001
|
|
NM_182914.3(SYNE2):c.4126C>T (p.His1376Tyr)
|
rs765665332
|
0.00001
|
|
NM_182914.3(SYNE2):c.4190C>T (p.Thr1397Ile)
|
rs760136466
|
0.00001
|
|
NM_182914.3(SYNE2):c.4222A>G (p.Ile1408Val)
|
rs755316066
|
0.00001
|
|
NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro)
|
rs748414819
|
0.00001
|
|
NM_182914.3(SYNE2):c.4309A>G (p.Asn1437Asp)
|
rs554653679
|
0.00001
|
|
NM_182914.3(SYNE2):c.4358T>C (p.Ile1453Thr)
|
rs139513761
|
0.00001
|
|
NM_182914.3(SYNE2):c.4375A>T (p.Thr1459Ser)
|
rs1482814444
|
0.00001
|
|
NM_182914.3(SYNE2):c.4380T>G (p.Val1460=)
|
rs746868605
|
0.00001
|
|
NM_182914.3(SYNE2):c.4523A>G (p.Gln1508Arg)
|
rs374305796
|
0.00001
|
|
NM_182914.3(SYNE2):c.4710G>C (p.Leu1570=)
|
rs774571797
|
0.00001
|
|
NM_182914.3(SYNE2):c.4849G>A (p.Glu1617Lys)
|
rs780380973
|
0.00001
|
|
NM_182914.3(SYNE2):c.4939T>C (p.Leu1647=)
|
rs760189953
|
0.00001
|
|
NM_182914.3(SYNE2):c.495A>G (p.Ser165=)
|
rs758680110
|
0.00001
|
|
NM_182914.3(SYNE2):c.4977T>C (p.Asp1659=)
|
rs369766827
|
0.00001
|
|
NM_182914.3(SYNE2):c.5019A>G (p.Gln1673=)
|
rs577536564
|
0.00001
|
|
NM_182914.3(SYNE2):c.5084A>G (p.Glu1695Gly)
|
rs746639416
|
0.00001
|
|
NM_182914.3(SYNE2):c.5096G>C (p.Arg1699Thr)
|
rs776002336
|
0.00001
|
|
NM_182914.3(SYNE2):c.5253G>A (p.Arg1751=)
|
rs375022006
|
0.00001
|
|
NM_182914.3(SYNE2):c.5284G>A (p.Gly1762Arg)
|
rs754809587
|
0.00001
|
|
NM_182914.3(SYNE2):c.5389A>G (p.Met1797Val)
|
rs199968665
|
0.00001
|
|
NM_182914.3(SYNE2):c.5410A>G (p.Ile1804Val)
|
rs755788132
|
0.00001
|
|
NM_182914.3(SYNE2):c.5463C>T (p.Val1821=)
|
rs2096938872
|
0.00001
|
|
NM_182914.3(SYNE2):c.5525-5T>C
|
rs368511555
|
0.00001
|
|
NM_182914.3(SYNE2):c.5529A>G (p.Gln1843=)
|
rs757852900
|
0.00001
|
|
NM_182914.3(SYNE2):c.5608A>C (p.Ser1870Arg)
|
rs368227332
|
0.00001
|
|
NM_182914.3(SYNE2):c.5619A>G (p.Gln1873=)
|
rs371756347
|
0.00001
|
|
NM_182914.3(SYNE2):c.5677C>G (p.Gln1893Glu)
|
rs1170718601
|
0.00001
|
|
NM_182914.3(SYNE2):c.5710C>T (p.His1904Tyr)
|
rs762428121
|
0.00001
|
|
NM_182914.3(SYNE2):c.5801G>A (p.Arg1934Gln)
|
rs765830189
|
0.00001
|
|
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=)
|
rs766666230
|
0.00001
|
|
NM_182914.3(SYNE2):c.5849A>T (p.Asp1950Val)
|
rs1360576800
|
0.00001
|
|
NM_182914.3(SYNE2):c.585C>T (p.Cys195=)
|
rs762405319
|
0.00001
|
|
NM_182914.3(SYNE2):c.586G>A (p.Ala196Thr)
|
rs765480562
|
0.00001
|
|
NM_182914.3(SYNE2):c.5985A>G (p.Gln1995=)
|
rs754628340
|
0.00001
|
|
NM_182914.3(SYNE2):c.6040G>T (p.Glu2014Ter)
|
rs961554467
|
0.00001
|
|
NM_182914.3(SYNE2):c.6058G>C (p.Asp2020His)
|
rs772510663
|
0.00001
|
|
NM_182914.3(SYNE2):c.605A>G (p.Asn202Ser)
|
rs746518493
|
0.00001
|
|
NM_182914.3(SYNE2):c.6119C>T (p.Pro2040Leu)
|
rs1277532834
|
0.00001
|
|
NM_182914.3(SYNE2):c.6194T>C (p.Met2065Thr)
|
rs768853189
|
0.00001
|
|
NM_182914.3(SYNE2):c.6315G>A (p.Glu2105=)
|
rs931196719
|
0.00001
|
|
NM_182914.3(SYNE2):c.6350C>T (p.Thr2117Ile)
|
rs1258717242
|
0.00001
|
|
NM_182914.3(SYNE2):c.6370G>C (p.Asp2124His)
|
rs764621284
|
0.00001
|
|
NM_182914.3(SYNE2):c.6381C>T (p.Leu2127=)
|
rs1293504177
|
0.00001
|
|
NM_182914.3(SYNE2):c.6404+5A>G
|
rs571176673
|
0.00001
|
|
NM_182914.3(SYNE2):c.6429A>C (p.Glu2143Asp)
|
rs1344690423
|
0.00001
|
|
NM_182914.3(SYNE2):c.654C>T (p.Ala218=)
|
rs759694907
|
0.00001
|
|
NM_182914.3(SYNE2):c.6585G>A (p.Leu2195=)
|
rs1468484964
|
0.00001
|
|
NM_182914.3(SYNE2):c.6742G>A (p.Val2248Ile)
|
rs767605722
|
0.00001
|
|
NM_182914.3(SYNE2):c.6764A>G (p.Gln2255Arg)
|
rs750058499
|
0.00001
|
|
NM_182914.3(SYNE2):c.6799A>G (p.Asn2267Asp)
|
rs961730782
|
0.00001
|
|
NM_182914.3(SYNE2):c.6915A>G (p.Thr2305=)
|
rs767578236
|
0.00001
|
|
NM_182914.3(SYNE2):c.6945C>T (p.Ser2315=)
|
rs564454573
|
0.00001
|
|
NM_182914.3(SYNE2):c.6993T>C (p.Asp2331=)
|
rs781188791
|
0.00001
|
|
NM_182914.3(SYNE2):c.6994A>G (p.Ile2332Val)
|
rs372848337
|
0.00001
|
|
NM_182914.3(SYNE2):c.7028A>G (p.Glu2343Gly)
|
rs770601583
|
0.00001
|
|
NM_182914.3(SYNE2):c.7055A>T (p.Glu2352Val)
|
rs752190689
|
0.00001
|
|
NM_182914.3(SYNE2):c.7093C>T (p.Arg2365Cys)
|
rs781422804
|
0.00001
|
|
NM_182914.3(SYNE2):c.711C>G (p.Ser237=)
|
rs758188083
|
0.00001
|
|
NM_182914.3(SYNE2):c.7139A>C (p.Lys2380Thr)
|
rs1157953928
|
0.00001
|
|
NM_182914.3(SYNE2):c.7227A>G (p.Ser2409=)
|
rs1351381991
|
0.00001
|
|
NM_182914.3(SYNE2):c.7257T>C (p.Leu2419=)
|
rs768146609
|
0.00001
|
|
NM_182914.3(SYNE2):c.7297G>A (p.Glu2433Lys)
|
rs376116911
|
0.00001
|
|
NM_182914.3(SYNE2):c.7378-17G>A
|
rs765573084
|
0.00001
|
|
NM_182914.3(SYNE2):c.7437A>T (p.Glu2479Asp)
|
rs375700055
|
0.00001
|
|
NM_182914.3(SYNE2):c.7463C>T (p.Ala2488Val)
|
rs763317566
|
0.00001
|
|
NM_182914.3(SYNE2):c.7508A>G (p.Asn2503Ser)
|
rs1160071284
|
0.00001
|
|
NM_182914.3(SYNE2):c.7563C>T (p.Val2521=)
|
rs760651832
|
0.00001
|
|
NM_182914.3(SYNE2):c.7569A>T (p.Arg2523Ser)
|
rs763858839
|
0.00001
|
|
NM_182914.3(SYNE2):c.7573T>A (p.Phe2525Ile)
|
rs202017993
|
0.00001
|
|
NM_182914.3(SYNE2):c.7614C>T (p.Ala2538=)
|
rs1377164548
|
0.00001
|
|
NM_182914.3(SYNE2):c.7665G>A (p.Thr2555=)
|
rs772344164
|
0.00001
|
|
NM_182914.3(SYNE2):c.7694C>T (p.Ala2565Val)
|
rs200447122
|
0.00001
|
|
NM_182914.3(SYNE2):c.7759C>G (p.His2587Asp)
|
rs758573149
|
0.00001
|
|
NM_182914.3(SYNE2):c.787+12T>C
|
rs775758502
|
0.00001
|
|
NM_182914.3(SYNE2):c.8013C>T (p.Asp2671=)
|
rs1324986561
|
0.00001
|
|
NM_182914.3(SYNE2):c.8027A>G (p.Lys2676Arg)
|
rs2097230580
|
0.00001
|
|
NM_182914.3(SYNE2):c.8030A>G (p.His2677Arg)
|
rs777764821
|
0.00001
|
|
NM_182914.3(SYNE2):c.8077A>T (p.Ile2693Phe)
|
rs746691289
|
0.00001
|
|
NM_182914.3(SYNE2):c.8171A>T (p.Glu2724Val)
|
rs759977701
|
0.00001
|
|
NM_182914.3(SYNE2):c.8247A>G (p.Glu2749=)
|
rs957070747
|
0.00001
|
|
NM_182914.3(SYNE2):c.8249T>G (p.Leu2750Arg)
|
rs750371615
|
0.00001
|
|
NM_182914.3(SYNE2):c.8348A>T (p.Glu2783Val)
|
rs773304417
|
0.00001
|
|
NM_182914.3(SYNE2):c.8364G>C (p.Glu2788Asp)
|
rs1020192497
|
0.00001
|
|
NM_182914.3(SYNE2):c.8417A>G (p.Asn2806Ser)
|
rs765407182
|
0.00001
|
|
NM_182914.3(SYNE2):c.8579G>C (p.Arg2860Thr)
|
rs752110658
|
0.00001
|
|
NM_182914.3(SYNE2):c.8600A>C (p.Glu2867Ala)
|
rs371387085
|
0.00001
|
|
NM_182914.3(SYNE2):c.860A>T (p.Asp287Val)
|
rs1595894380
|
0.00001
|
|
NM_182914.3(SYNE2):c.8639C>G (p.Ser2880Cys)
|
rs772011011
|
0.00001
|
|
NM_182914.3(SYNE2):c.8842T>C (p.Phe2948Leu)
|
rs1274158681
|
0.00001
|
|
NM_182914.3(SYNE2):c.888+11A>G
|
rs747593732
|
0.00001
|
|
NM_182914.3(SYNE2):c.888+18T>C
|
rs1237235458
|
0.00001
|
|
NM_182914.3(SYNE2):c.8903T>C (p.Leu2968Ser)
|
rs2097237434
|
0.00001
|
|
NM_182914.3(SYNE2):c.9186T>C (p.Ile3062=)
|
rs1178929783
|
0.00001
|
|
NM_182914.3(SYNE2):c.9284A>G (p.Lys3095Arg)
|
rs771325522
|
0.00001
|
|
NM_182914.3(SYNE2):c.9330C>T (p.Thr3110=)
|
rs765014161
|
0.00001
|
|
NM_182914.3(SYNE2):c.9366A>G (p.Gln3122=)
|
rs369128922
|
0.00001
|
|
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His)
|
rs1026697162
|
0.00001
|
|
NM_182914.3(SYNE2):c.9558A>G (p.Gln3186=)
|
rs776801026
|
0.00001
|
|
NM_182914.3(SYNE2):c.9618T>C (p.Ile3206=)
|
rs374756957
|
0.00001
|
|
NM_182914.3(SYNE2):c.9631G>T (p.Ala3211Ser)
|
rs199853298
|
0.00001
|
|
NM_182914.3(SYNE2):c.9668C>T (p.Ala3223Val)
|
rs781250830
|
0.00001
|
|
NM_182914.3(SYNE2):c.9700G>C (p.Glu3234Gln)
|
rs372597797
|
0.00001
|
|
NM_182914.3(SYNE2):c.9717G>T (p.Gln3239His)
|
rs1428818552
|
0.00001
|
|
NM_182914.3(SYNE2):c.9733G>T (p.Asp3245Tyr)
|
rs780736831
|
0.00001
|
|
NM_182914.3(SYNE2):c.9744+10A>C
|
rs1242432428
|
0.00001
|
|
NM_182914.3(SYNE2):c.9779G>A (p.Arg3260His)
|
rs532861539
|
0.00001
|
|
NM_182914.3(SYNE2):c.9830C>G (p.Ala3277Gly)
|
rs758226884
|
0.00001
|
|
NM_182914.3(SYNE2):c.990+12T>G
|
rs775463750
|
0.00001
|
|
NM_182914.3(SYNE2):c.9943G>A (p.Glu3315Lys)
|
rs372982837
|
0.00001
|
|
NM_182914.3(SYNE2):c.9953G>A (p.Gly3318Glu)
|
rs2097266908
|
0.00001
|
|
NM_182914.3(SYNE2):c.9974C>T (p.Ala3325Val)
|
rs377173620
|
0.00001
|
|
NM_182914.3(SYNE2):c.9993T>C (p.Tyr3331=)
|
rs777547599
|
0.00001
|
|
NM_182961.4(SYNE1):c.*138A>G
|
rs2051574407
|
0.00001
|
|
NM_182961.4(SYNE1):c.*166G>A
|
rs958754447
|
0.00001
|
|
NM_182961.4(SYNE1):c.*181C>T
|
rs150886628
|
0.00001
|
|
NM_182961.4(SYNE1):c.*368T>C
|
rs927168592
|
0.00001
|
|
NM_182961.4(SYNE1):c.10060G>C (p.Glu3354Gln)
|
rs773410652
|
0.00001
|
|
NM_182961.4(SYNE1):c.10093A>G (p.Ser3365Gly)
|
rs545457219
|
0.00001
|
|
NM_182961.4(SYNE1):c.10178G>A (p.Ser3393Asn)
|
rs1221490895
|
0.00001
|
|
NM_182961.4(SYNE1):c.10196G>A (p.Arg3399Gln)
|
rs368647352
|
0.00001
|
|
NM_182961.4(SYNE1):c.10206C>T (p.Ser3402=)
|
rs1158144490
|
0.00001
|
|
NM_182961.4(SYNE1):c.10223T>A (p.Met3408Lys)
|
rs1212823311
|
0.00001
|
|
NM_182961.4(SYNE1):c.1027A>G (p.Asn343Asp)
|
rs1289374962
|
0.00001
|
|
NM_182961.4(SYNE1):c.10289G>A (p.Gly3430Glu)
|
rs760727534
|
0.00001
|
|
NM_182961.4(SYNE1):c.1028A>G (p.Asn343Ser)
|
rs372451128
|
0.00001
|
|
NM_182961.4(SYNE1):c.10318C>T (p.Leu3440=)
|
rs997731221
|
0.00001
|
|
NM_182961.4(SYNE1):c.10366A>G (p.Met3456Val)
|
rs1270266905
|
0.00001
|
|
NM_182961.4(SYNE1):c.10415G>A (p.Arg3472Gln)
|
rs1255278240
|
0.00001
|
|
NM_182961.4(SYNE1):c.10449C>T (p.Ala3483=)
|
rs759403120
|
0.00001
|
|
NM_182961.4(SYNE1):c.10471G>A (p.Val3491Ile)
|
rs886043016
|
0.00001
|
|
NM_182961.4(SYNE1):c.10608+20A>G
|
rs370822005
|
0.00001
|
|
NM_182961.4(SYNE1):c.10608G>A (p.Gln3536=)
|
rs1246237055
|
0.00001
|
|
NM_182961.4(SYNE1):c.10620A>G (p.Val3540=)
|
rs1308068026
|
0.00001
|
|
NM_182961.4(SYNE1):c.1063A>G (p.Arg355Gly)
|
rs149532009
|
0.00001
|
|
NM_182961.4(SYNE1):c.10669G>A (p.Glu3557Lys)
|
rs1485693688
|
0.00001
|
|
NM_182961.4(SYNE1):c.10709G>A (p.Arg3570Gln)
|
rs751191478
|
0.00001
|
|
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln)
|
rs1060499769
|
0.00001
|
|
NM_182961.4(SYNE1):c.10750C>T (p.His3584Tyr)
|
rs752209637
|
0.00001
|
|
NM_182961.4(SYNE1):c.10789G>T (p.Val3597Leu)
|
rs1301268425
|
0.00001
|
|
NM_182961.4(SYNE1):c.10799T>C (p.Leu3600Ser)
|
rs1444678849
|
0.00001
|
|
NM_182961.4(SYNE1):c.10836A>G (p.Glu3612=)
|
rs147021971
|
0.00001
|
|
NM_182961.4(SYNE1):c.10927-18G>A
|
rs759603128
|
0.00001
|
|
NM_182961.4(SYNE1):c.10953C>T (p.Tyr3651=)
|
rs779741109
|
0.00001
|
|
NM_182961.4(SYNE1):c.1097A>C (p.Glu366Ala)
|
rs372327585
|
0.00001
|
|
NM_182961.4(SYNE1):c.1099C>T (p.His367Tyr)
|
rs2098931321
|
0.00001
|
|
NM_182961.4(SYNE1):c.11031C>T (p.Cys3677=)
|
rs2096781049
|
0.00001
|
|
NM_182961.4(SYNE1):c.11083-8T>C
|
rs752554466
|
0.00001
|
|
NM_182961.4(SYNE1):c.11083-9C>T
|
rs758255035
|
0.00001
|
|
NM_182961.4(SYNE1):c.1110A>G (p.Gln370=)
|
rs756294096
|
0.00001
|
|
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His)
|
rs758415122
|
0.00001
|
|
NM_182961.4(SYNE1):c.11202G>C (p.Lys3734Asn)
|
rs761089261
|
0.00001
|
|
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=)
|
rs149393972
|
0.00001
|
|
NM_182961.4(SYNE1):c.11285G>A (p.Ser3762Asn)
|
rs780889581
|
0.00001
|
|
NM_182961.4(SYNE1):c.11412C>T (p.Val3804=)
|
rs777170937
|
0.00001
|
|
NM_182961.4(SYNE1):c.11413C>T (p.Arg3805Trp)
|
rs572106956
|
0.00001
|
|
NM_182961.4(SYNE1):c.11490G>A (p.Gln3830=)
|
rs746623465
|
0.00001
|
|
NM_182961.4(SYNE1):c.11496A>G (p.Ile3832Met)
|
rs1554518035
|
0.00001
|
|
NM_182961.4(SYNE1):c.11581-19T>C
|
rs1193068464
|
0.00001
|
|
NM_182961.4(SYNE1):c.11659G>C (p.Val3887Leu)
|
rs753931727
|
0.00001
|
|
NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu)
|
rs775097525
|
0.00001
|
|
NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr)
|
rs772794050
|
0.00001
|
|
NM_182961.4(SYNE1):c.11729G>A (p.Gly3910Glu)
|
rs373095359
|
0.00001
|
|
NM_182961.4(SYNE1):c.1176G>A (p.Val392=)
|
rs776130961
|
0.00001
|
|
NM_182961.4(SYNE1):c.11970G>A (p.Leu3990=)
|
rs960254266
|
0.00001
|
|
NM_182961.4(SYNE1):c.12039A>C (p.Thr4013=)
|
rs1190890349
|
0.00001
|
|
NM_182961.4(SYNE1):c.12079-4T>C
|
rs749035276
|
0.00001
|
|
NM_182961.4(SYNE1):c.12100G>A (p.Glu4034Lys)
|
rs746532554
|
0.00001
|
|
NM_182961.4(SYNE1):c.12127G>A (p.Asp4043Asn)
|
rs369515853
|
0.00001
|
|
NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly)
|
rs761744256
|
0.00001
|
|
NM_182961.4(SYNE1):c.12171G>A (p.Pro4057=)
|
rs112128801
|
0.00001
|
|
NM_182961.4(SYNE1):c.12181C>T (p.Pro4061Ser)
|
rs780777858
|
0.00001
|
|
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val)
|
rs886044158
|
0.00001
|
|
NM_182961.4(SYNE1):c.12226G>A (p.Val4076Ile)
|
rs754971865
|
0.00001
|
|
NM_182961.4(SYNE1):c.12266A>T (p.Tyr4089Phe)
|
rs1294787806
|
0.00001
|
|
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly)
|
rs767294741
|
0.00001
|
|
NM_182961.4(SYNE1):c.1228C>G (p.Pro410Ala)
|
rs770374751
|
0.00001
|
|
NM_182961.4(SYNE1):c.12302A>G (p.Asn4101Ser)
|
rs1201675371
|
0.00001
|
|
NM_182961.4(SYNE1):c.12308C>T (p.Ser4103Leu)
|
rs376766873
|
0.00001
|
|
NM_182961.4(SYNE1):c.12352-19A>G
|
rs535649438
|
0.00001
|
|
NM_182961.4(SYNE1):c.12422A>C (p.Glu4141Ala)
|
rs1449281199
|
0.00001
|
|
NM_182961.4(SYNE1):c.1242A>G (p.Ile414Met)
|
rs2098918498
|
0.00001
|
|
NM_182961.4(SYNE1):c.12435C>T (p.Tyr4145=)
|
rs1167024658
|
0.00001
|
|
NM_182961.4(SYNE1):c.1244G>A (p.Gly415Asp)
|
rs1459930095
|
0.00001
|
|
NM_182961.4(SYNE1):c.12499A>G (p.Ile4167Val)
|
rs769992083
|
0.00001
|
|
NM_182961.4(SYNE1):c.12541A>C (p.Lys4181Gln)
|
rs2096324088
|
0.00001
|
|
NM_182961.4(SYNE1):c.12687C>T (p.Cys4229=)
|
rs755451612
|
0.00001
|
|
NM_182961.4(SYNE1):c.12713G>C (p.Arg4238Thr)
|
rs537532640
|
0.00001
|
|
NM_182961.4(SYNE1):c.12790G>A (p.Ala4264Thr)
|
rs745331052
|
0.00001
|
|
NM_182961.4(SYNE1):c.12794+18A>T
|
rs780721542
|
0.00001
|
|
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr)
|
rs200140440
|
0.00001
|
|
NM_182961.4(SYNE1):c.12832T>C (p.Leu4278=)
|
rs749626940
|
0.00001
|
|
NM_182961.4(SYNE1):c.12844G>C (p.Ala4282Pro)
|
rs1384390262
|
0.00001
|
|
NM_182961.4(SYNE1):c.12883C>T (p.Leu4295=)
|
rs781279526
|
0.00001
|
|
NM_182961.4(SYNE1):c.12889G>A (p.Asp4297Asn)
|
rs757271177
|
0.00001
|
|
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu)
|
rs751661906
|
0.00001
|
|
NM_182961.4(SYNE1):c.12908T>A (p.Ile4303Lys)
|
rs752624372
|
0.00001
|
|
NM_182961.4(SYNE1):c.12954G>A (p.Thr4318=)
|
rs968884551
|
0.00001
|
|
NM_182961.4(SYNE1):c.12985G>A (p.Glu4329Lys)
|
rs752661205
|
0.00001
|
|
NM_182961.4(SYNE1):c.1299G>A (p.Gln433=)
|
rs1224893756
|
0.00001
|
|
NM_182961.4(SYNE1):c.13032G>A (p.Glu4344=)
|
rs1053180393
|
0.00001
|
|
NM_182961.4(SYNE1):c.1304A>G (p.His435Arg)
|
rs543437113
|
0.00001
|
|
NM_182961.4(SYNE1):c.13050G>T (p.Gln4350His)
|
rs34464554
|
0.00001
|
|
NM_182961.4(SYNE1):c.13094C>A (p.Pro4365His)
|
rs779970152
|
0.00001
|
|
NM_182961.4(SYNE1):c.13099A>G (p.Ile4367Val)
|
rs1157664680
|
0.00001
|
|
NM_182961.4(SYNE1):c.13100T>C (p.Ile4367Thr)
|
rs371405185
|
0.00001
|
|
NM_182961.4(SYNE1):c.13231G>T (p.Val4411Phe)
|
rs768553487
|
0.00001
|
|
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)
|
rs752224921
|
0.00001
|
|
NM_182961.4(SYNE1):c.13310T>C (p.Leu4437Pro)
|
rs745789075
|
0.00001
|
|
NM_182961.4(SYNE1):c.13320A>G (p.Leu4440=)
|
rs374787261
|
0.00001
|
|
NM_182961.4(SYNE1):c.13368C>T (p.Thr4456=)
|
rs141847989
|
0.00001
|
|
NM_182961.4(SYNE1):c.13433T>C (p.Phe4478Ser)
|
rs886042314
|
0.00001
|
|
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys)
|
rs778601377
|
0.00001
|
|
NM_182961.4(SYNE1):c.13467G>A (p.Val4489=)
|
rs1166201006
|
0.00001
|
|
NM_182961.4(SYNE1):c.13476A>G (p.Gln4492=)
|
rs758900989
|
0.00001
|
|
NM_182961.4(SYNE1):c.1350+13G>A
|
rs994953289
|
0.00001
|
|
NM_182961.4(SYNE1):c.13555G>A (p.Glu4519Lys)
|
rs571224180
|
0.00001
|
|
NM_182961.4(SYNE1):c.13573A>G (p.Thr4525Ala)
|
rs909205583
|
0.00001
|
|
NM_182961.4(SYNE1):c.13580A>G (p.Gln4527Arg)
|
rs747550581
|
0.00001
|
|
NM_182961.4(SYNE1):c.13596G>T (p.Val4532=)
|
rs886043332
|
0.00001
|
|
NM_182961.4(SYNE1):c.13684G>A (p.Val4562Ile)
|
rs973116936
|
0.00001
|
|
NM_182961.4(SYNE1):c.13695G>A (p.Lys4565=)
|
rs530630718
|
0.00001
|
|
NM_182961.4(SYNE1):c.13710T>C (p.Asp4570=)
|
rs563207771
|
0.00001
|
|
NM_182961.4(SYNE1):c.13827T>G (p.Leu4609=)
|
rs1415812565
|
0.00001
|
|
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro)
|
rs762392590
|
0.00001
|
|
NM_182961.4(SYNE1):c.13878G>A (p.Gly4626=)
|
rs147931555
|
0.00001
|
|
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu)
|
rs377099959
|
0.00001
|
|
NM_182961.4(SYNE1):c.13901A>G (p.Asn4634Ser)
|
rs1362233016
|
0.00001
|
|
NM_182961.4(SYNE1):c.13952A>T (p.Gln4651Leu)
|
rs374697325
|
0.00001
|
|
NM_182961.4(SYNE1):c.13989C>A (p.Phe4663Leu)
|
rs1166869172
|
0.00001
|
|
NM_182961.4(SYNE1):c.13991A>G (p.Tyr4664Cys)
|
rs367979558
|
0.00001
|
|
NM_182961.4(SYNE1):c.1402C>T (p.Arg468Trp)
|
rs1469601635
|
0.00001
|
|
NM_182961.4(SYNE1):c.14079A>G (p.Gln4693=)
|
rs778820710
|
0.00001
|
|
NM_182961.4(SYNE1):c.14140G>A (p.Asp4714Asn)
|
rs765759628
|
0.00001
|
|
NM_182961.4(SYNE1):c.1414G>A (p.Val472Ile)
|
rs952688216
|
0.00001
|
|
NM_182961.4(SYNE1):c.14152G>A (p.Ala4718Thr)
|
rs759856569
|
0.00001
|
|
NM_182961.4(SYNE1):c.14187G>A (p.Ala4729=)
|
rs886042872
|
0.00001
|
|
NM_182961.4(SYNE1):c.14189T>A (p.Val4730Glu)
|
rs141752799
|
0.00001
|
|
NM_182961.4(SYNE1):c.141A>G (p.Pro47=)
|
rs551171550
|
0.00001
|
|
NM_182961.4(SYNE1):c.14225G>A (p.Ser4742Asn)
|
rs763637795
|
0.00001
|
|
NM_182961.4(SYNE1):c.14274A>G (p.Leu4758=)
|
rs1454377562
|
0.00001
|
|
NM_182961.4(SYNE1):c.14341C>G (p.Gln4781Glu)
|
rs750831528
|
0.00001
|
|
NM_182961.4(SYNE1):c.14365C>G (p.Gln4789Glu)
|
rs764205112
|
0.00001
|
|
NM_182961.4(SYNE1):c.14463G>A (p.Leu4821=)
|
rs758516967
|
0.00001
|
|
NM_182961.4(SYNE1):c.14485G>A (p.Gly4829Arg)
|
rs1278211656
|
0.00001
|
|
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter)
|
rs766129413
|
0.00001
|
|
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr)
|
rs747838657
|
0.00001
|
|
NM_182961.4(SYNE1):c.14561C>T (p.Ala4854Val)
|
rs931699788
|
0.00001
|
|
NM_182961.4(SYNE1):c.14565G>C (p.Arg4855Ser)
|
rs1237053788
|
0.00001
|
|
NM_182961.4(SYNE1):c.14628G>A (p.Val4876=)
|
rs772957773
|
0.00001
|
|
NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp)
|
rs1159750019
|
0.00001
|
|
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His)
|
rs150266354
|
0.00001
|
|
NM_182961.4(SYNE1):c.14722A>C (p.Ser4908Arg)
|
rs750417575
|
0.00001
|
|
NM_182961.4(SYNE1):c.14758A>T (p.Ile4920Phe)
|
rs555355654
|
0.00001
|
|
NM_182961.4(SYNE1):c.14833A>C (p.Ser4945Arg)
|
rs2096203231
|
0.00001
|
|
NM_182961.4(SYNE1):c.1486T>A (p.Ser496Thr)
|
rs1392726878
|
0.00001
|
|
NM_182961.4(SYNE1):c.14948C>T (p.Thr4983Ile)
|
rs765961446
|
0.00001
|
|
NM_182961.4(SYNE1):c.14955G>C (p.Gln4985His)
|
rs890021376
|
0.00001
|
|
NM_182961.4(SYNE1):c.14975A>G (p.Tyr4992Cys)
|
rs753602210
|
0.00001
|
|
NM_182961.4(SYNE1):c.15057A>G (p.Ala5019=)
|
rs1462308045
|
0.00001
|
|
NM_182961.4(SYNE1):c.15072C>T (p.Asp5024=)
|
rs772100783
|
0.00001
|
|
NM_182961.4(SYNE1):c.15106A>G (p.Met5036Val)
|
rs755539687
|
0.00001
|
|
NM_182961.4(SYNE1):c.15124G>C (p.Glu5042Gln)
|
rs533927341
|
0.00001
|
|
NM_182961.4(SYNE1):c.15165G>C (p.Leu5055=)
|
rs760844118
|
0.00001
|
|
NM_182961.4(SYNE1):c.15197C>G (p.Thr5066Ser)
|
rs373690809
|
0.00001
|
|
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=)
|
rs370314344
|
0.00001
|
|
NM_182961.4(SYNE1):c.15245G>A (p.Ser5082Asn)
|
rs760935405
|
0.00001
|
|
NM_182961.4(SYNE1):c.15254T>C (p.Met5085Thr)
|
rs750676780
|
0.00001
|
|
NM_182961.4(SYNE1):c.15294-16G>A
|
rs762945450
|
0.00001
|
|
NM_182961.4(SYNE1):c.15312C>T (p.His5104=)
|
rs144173352
|
0.00001
|
|
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=)
|
rs780437149
|
0.00001
|
|
NM_182961.4(SYNE1):c.15366G>T (p.Lys5122Asn)
|
rs764169067
|
0.00001
|
|
NM_182961.4(SYNE1):c.15370T>C (p.Leu5124=)
|
rs758423743
|
0.00001
|
|
NM_182961.4(SYNE1):c.15398C>T (p.Ser5133Leu)
|
rs771550432
|
0.00001
|
|
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln)
|
rs544309811
|
0.00001
|
|
NM_182961.4(SYNE1):c.15557C>A (p.Thr5186Asn)
|
rs768676733
|
0.00001
|
|
NM_182961.4(SYNE1):c.15587G>A (p.Arg5196Gln)
|
rs752229373
|
0.00001
|
|
NM_182961.4(SYNE1):c.15658-20G>T
|
rs901508795
|
0.00001
|
|
NM_182961.4(SYNE1):c.15661A>G (p.Lys5221Glu)
|
rs764500952
|
0.00001
|
|
NM_182961.4(SYNE1):c.15815G>A (p.Arg5272Gln)
|
rs201750136
|
0.00001
|
|
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro)
|
rs537825329
|
0.00001
|
|
NM_182961.4(SYNE1):c.1590C>T (p.Tyr530=)
|
rs369178017
|
0.00001
|
|
NM_182961.4(SYNE1):c.15917+9G>A
|
rs779265988
|
0.00001
|
|
NM_182961.4(SYNE1):c.15938C>G (p.Thr5313Ser)
|
rs779313924
|
0.00001
|
|
NM_182961.4(SYNE1):c.15974G>A (p.Arg5325Gln)
|
rs1233067296
|
0.00001
|
|
NM_182961.4(SYNE1):c.16237-10A>T
|
rs201078255
|
0.00001
|
|
NM_182961.4(SYNE1):c.16272G>A (p.Lys5424=)
|
rs142704460
|
0.00001
|
|
NM_182961.4(SYNE1):c.16294C>T (p.Arg5432Trp)
|
rs575137601
|
0.00001
|
|
NM_182961.4(SYNE1):c.16313C>T (p.Ala5438Val)
|
rs1229397934
|
0.00001
|
|
NM_182961.4(SYNE1):c.1631T>C (p.Val544Ala)
|
rs148295255
|
0.00001
|
|
NM_182961.4(SYNE1):c.16409A>G (p.Asp5470Gly)
|
rs747824937
|
0.00001
|
|
NM_182961.4(SYNE1):c.16544C>G (p.Ala5515Gly)
|
rs1021830711
|
0.00001
|
|
NM_182961.4(SYNE1):c.16573-9G>T
|
rs768173115
|
0.00001
|
|
NM_182961.4(SYNE1):c.16593A>T (p.Glu5531Asp)
|
rs769306377
|
0.00001
|
|
NM_182961.4(SYNE1):c.16601A>C (p.Glu5534Ala)
|
rs1313738847
|
0.00001
|
|
NM_182961.4(SYNE1):c.16709A>G (p.Gln5570Arg)
|
rs928178334
|
0.00001
|
|
NM_182961.4(SYNE1):c.16785C>T (p.Ser5595=)
|
rs142010074
|
0.00001
|
|
NM_182961.4(SYNE1):c.16832G>A (p.Arg5611Gln)
|
rs746879340
|
0.00001
|
|
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys)
|
rs570556738
|
0.00001
|
|
NM_182961.4(SYNE1):c.16956G>A (p.Gln5652=)
|
rs1455225493
|
0.00001
|
|
NM_182961.4(SYNE1):c.16999G>A (p.Glu5667Lys)
|
rs749088509
|
0.00001
|
|
NM_182961.4(SYNE1):c.169A>G (p.Met57Val)
|
rs1031712545
|
0.00001
|
|
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=)
|
rs573806608
|
0.00001
|
|
NM_182961.4(SYNE1):c.17020-16G>A
|
rs745471011
|
0.00001
|
|
NM_182961.4(SYNE1):c.17097C>T (p.Pro5699=)
|
rs769890058
|
0.00001
|
|
NM_182961.4(SYNE1):c.17098G>A (p.Glu5700Lys)
|
rs1227780117
|
0.00001
|
|
NM_182961.4(SYNE1):c.17118A>G (p.Leu5706=)
|
rs1194006323
|
0.00001
|
|
NM_182961.4(SYNE1):c.17189G>A (p.Cys5730Tyr)
|
rs759609921
|
0.00001
|
|
NM_182961.4(SYNE1):c.17229T>C (p.Tyr5743=)
|
rs377344899
|
0.00001
|
|
NM_182961.4(SYNE1):c.1729+8A>G
|
rs188999515
|
0.00001
|
|
NM_182961.4(SYNE1):c.17326G>T (p.Ala5776Ser)
|
rs774018511
|
0.00001
|
|
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val)
|
rs762422242
|
0.00001
|
|
NM_182961.4(SYNE1):c.17347-16G>C
|
rs200637611
|
0.00001
|
|
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln)
|
rs754105532
|
0.00001
|
|
NM_182961.4(SYNE1):c.17434G>A (p.Ala5812Thr)
|
rs775815795
|
0.00001
|
|
NM_182961.4(SYNE1):c.17443C>G (p.Leu5815Val)
|
rs987594036
|
0.00001
|
|
NM_182961.4(SYNE1):c.17464G>C (p.Glu5822Gln)
|
rs2095193468
|
0.00001
|
|
NM_182961.4(SYNE1):c.17487G>A (p.Glu5829=)
|
rs963252462
|
0.00001
|
|
NM_182961.4(SYNE1):c.17533G>A (p.Val5845Met)
|
rs535699185
|
0.00001
|
|
NM_182961.4(SYNE1):c.17544G>A (p.Met5848Ile)
|
rs766625615
|
0.00001
|
|
NM_182961.4(SYNE1):c.17562C>T (p.His5854=)
|
rs771992733
|
0.00001
|
|
NM_182961.4(SYNE1):c.17564C>T (p.Thr5855Ile)
|
rs1336941426
|
0.00001
|
|
NM_182961.4(SYNE1):c.17624C>A (p.Ser5875Tyr)
|
rs1043563187
|
0.00001
|
|
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)
|
rs1300885934
|
0.00001
|
|
NM_182961.4(SYNE1):c.17682+7C>T
|
rs1453568721
|
0.00001
|
|
NM_182961.4(SYNE1):c.17757C>T (p.Ser5919=)
|
rs550385131
|
0.00001
|
|
NM_182961.4(SYNE1):c.17775T>C (p.Tyr5925=)
|
rs756831138
|
0.00001
|
|
NM_182961.4(SYNE1):c.17781G>A (p.Pro5927=)
|
rs770484710
|
0.00001
|
|
NM_182961.4(SYNE1):c.17851-7G>T
|
rs776806501
|
0.00001
|
|
NM_182961.4(SYNE1):c.17912C>G (p.Ser5971Cys)
|
rs753835774
|
0.00001
|
|
NM_182961.4(SYNE1):c.17943C>A (p.Ala5981=)
|
rs201436749
|
0.00001
|
|
NM_182961.4(SYNE1):c.17945T>C (p.Ile5982Thr)
|
rs375798794
|
0.00001
|
|
NM_182961.4(SYNE1):c.17980_17988del (p.Arg5994_Pro5996del)
|
rs2094716921
|
0.00001
|
|
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser)
|
rs774683772
|
0.00001
|
|
NM_182961.4(SYNE1):c.18072C>T (p.Leu6024=)
|
rs749375364
|
0.00001
|
|
NM_182961.4(SYNE1):c.18079G>C (p.Glu6027Gln)
|
rs745822192
|
0.00001
|
|
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=)
|
rs146238726
|
0.00001
|
|
NM_182961.4(SYNE1):c.18103G>T (p.Ala6035Ser)
|
rs557248018
|
0.00001
|
|
NM_182961.4(SYNE1):c.18113C>T (p.Ala6038Val)
|
rs752183118
|
0.00001
|
|
NM_182961.4(SYNE1):c.18137C>T (p.Thr6046Met)
|
rs372219741
|
0.00001
|
|
NM_182961.4(SYNE1):c.18154G>A (p.Glu6052Lys)
|
rs1279573379
|
0.00001
|
|
NM_182961.4(SYNE1):c.18189G>C (p.Gly6063=)
|
rs1025895913
|
0.00001
|
|
NM_182961.4(SYNE1):c.18228G>A (p.Leu6076=)
|
rs1188706681
|
0.00001
|
|
NM_182961.4(SYNE1):c.18249G>A (p.Gln6083=)
|
rs748739828
|
0.00001
|
|
NM_182961.4(SYNE1):c.18290G>T (p.Ser6097Ile)
|
rs899182753
|
0.00001
|
|
NM_182961.4(SYNE1):c.18326C>T (p.Ala6109Val)
|
rs549373990
|
0.00001
|
|
NM_182961.4(SYNE1):c.18327G>A (p.Ala6109=)
|
rs148518750
|
0.00001
|
|
NM_182961.4(SYNE1):c.18432A>C (p.Ser6144=)
|
rs769588658
|
0.00001
|
|
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser)
|
rs764725032
|
0.00001
|
|
NM_182961.4(SYNE1):c.18573+3G>A
|
rs886044046
|
0.00001
|
|
NM_182961.4(SYNE1):c.18574-4G>C
|
rs767063118
|
0.00001
|
|
NM_182961.4(SYNE1):c.18594G>C (p.Glu6198Asp)
|
rs776024100
|
0.00001
|
|
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=)
|
rs552884641
|
0.00001
|
|
NM_182961.4(SYNE1):c.18655G>C (p.Ala6219Pro)
|
rs538161615
|
0.00001
|
|
NM_182961.4(SYNE1):c.18663C>T (p.Thr6221=)
|
rs771466788
|
0.00001
|
|
NM_182961.4(SYNE1):c.18745C>T (p.Arg6249Cys)
|
rs1270352436
|
0.00001
|
|
NM_182961.4(SYNE1):c.18748T>C (p.Ser6250Pro)
|
rs371489057
|
0.00001
|
|
NM_182961.4(SYNE1):c.1875G>A (p.Leu625=)
|
rs908412593
|
0.00001
|
|
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys)
|
rs139449273
|
0.00001
|
|
NM_182961.4(SYNE1):c.18761G>A (p.Arg6254His)
|
rs752272082
|
0.00001
|
|
NM_182961.4(SYNE1):c.18788C>T (p.Ser6263Leu)
|
rs141196768
|
0.00001
|
|
NM_182961.4(SYNE1):c.18813T>C (p.Ala6271=)
|
rs368818393
|
0.00001
|
|
NM_182961.4(SYNE1):c.18842A>C (p.Glu6281Ala)
|
rs965275563
|
0.00001
|
|
NM_182961.4(SYNE1):c.1887A>G (p.Leu629=)
|
rs972467458
|
0.00001
|
|
NM_182961.4(SYNE1):c.18952G>A (p.Glu6318Lys)
|
rs758182381
|
0.00001
|
|
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=)
|
rs762720357
|
0.00001
|
|
NM_182961.4(SYNE1):c.19086C>T (p.Phe6362=)
|
rs749565347
|
0.00001
|
|
NM_182961.4(SYNE1):c.19124A>G (p.Gln6375Arg)
|
rs909589026
|
0.00001
|
|
NM_182961.4(SYNE1):c.19223T>C (p.Leu6408Ser)
|
rs758337239
|
0.00001
|
|
NM_182961.4(SYNE1):c.19243T>G (p.Cys6415Gly)
|
rs1398807335
|
0.00001
|
|
NM_182961.4(SYNE1):c.1932+7T>C
|
rs754738610
|
0.00001
|
|
NM_182961.4(SYNE1):c.19352G>A (p.Arg6451Gln)
|
rs943903359
|
0.00001
|
|
NM_182961.4(SYNE1):c.19366G>A (p.Asp6456Asn)
|
rs376421422
|
0.00001
|
|
NM_182961.4(SYNE1):c.19386G>C (p.Leu6462Phe)
|
rs1453005046
|
0.00001
|
|
NM_182961.4(SYNE1):c.1946A>G (p.Asn649Ser)
|
rs756816038
|
0.00001
|
|
NM_182961.4(SYNE1):c.19470+5G>A
|
rs775233950
|
0.00001
|
|
NM_182961.4(SYNE1):c.19492A>G (p.Thr6498Ala)
|
rs2088379630
|
0.00001
|
|
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter)
|
rs781655232
|
0.00001
|
|
NM_182961.4(SYNE1):c.19600A>C (p.Lys6534Gln)
|
rs1377270650
|
0.00001
|
|
NM_182961.4(SYNE1):c.19636C>T (p.Arg6546Cys)
|
rs369420729
|
0.00001
|
|
NM_182961.4(SYNE1):c.19637G>A (p.Arg6546His)
|
rs375565416
|
0.00001
|
|
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp)
|
rs766241487
|
0.00001
|
|
NM_182961.4(SYNE1):c.19683C>G (p.Ser6561=)
|
rs1463559492
|
0.00001
|
|
NM_182961.4(SYNE1):c.19719C>T (p.Ile6573=)
|
rs1437801725
|
0.00001
|
|
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=)
|
rs776418227
|
0.00001
|
|
NM_182961.4(SYNE1):c.1984G>A (p.Asp662Asn)
|
rs755573339
|
0.00001
|
|
NM_182961.4(SYNE1):c.19867A>G (p.Ile6623Val)
|
rs368088542
|
0.00001
|
|
NM_182961.4(SYNE1):c.19886A>C (p.Lys6629Thr)
|
rs764885262
|
0.00001
|
|
NM_182961.4(SYNE1):c.19894-11A>C
|
rs1388264961
|
0.00001
|
|
NM_182961.4(SYNE1):c.19970A>G (p.Gln6657Arg)
|
rs751964300
|
0.00001
|
|
NM_182961.4(SYNE1):c.20003C>T (p.Ala6668Val)
|
rs1483994641
|
0.00001
|
|
NM_182961.4(SYNE1):c.20068-20G>A
|
rs769554267
|
0.00001
|
|
NM_182961.4(SYNE1):c.20178T>C (p.Ile6726=)
|
rs1588441873
|
0.00001
|
|
NM_182961.4(SYNE1):c.20234A>G (p.Lys6745Arg)
|
rs769256850
|
0.00001
|
|
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)
|
rs780451185
|
0.00001
|
|
NM_182961.4(SYNE1):c.20278A>G (p.Ile6760Val)
|
rs532550838
|
0.00001
|
|
NM_182961.4(SYNE1):c.20295A>G (p.Leu6765=)
|
rs1180529553
|
0.00001
|
|
NM_182961.4(SYNE1):c.20314C>T (p.Leu6772Phe)
|
rs1309947836
|
0.00001
|
|
NM_182961.4(SYNE1):c.20328G>C (p.Trp6776Cys)
|
rs539439844
|
0.00001
|
|
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala)
|
rs753654674
|
0.00001
|
|
NM_182961.4(SYNE1):c.20433A>T (p.Leu6811Phe)
|
rs766238098
|
0.00001
|
|
NM_182961.4(SYNE1):c.20517A>G (p.Leu6839=)
|
rs1428729266
|
0.00001
|
|
NM_182961.4(SYNE1):c.20530-10C>T
|
rs1562379182
|
0.00001
|
|
NM_182961.4(SYNE1):c.20546T>C (p.Val6849Ala)
|
rs886043522
|
0.00001
|
|
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val)
|
rs773506774
|
0.00001
|
|
NM_182961.4(SYNE1):c.20553C>T (p.Ala6851=)
|
rs969664934
|
0.00001
|
|
NM_182961.4(SYNE1):c.20627C>T (p.Thr6876Met)
|
rs144417950
|
0.00001
|
|
NM_182961.4(SYNE1):c.20645C>T (p.Ser6882Leu)
|
rs373012438
|
0.00001
|
|
NM_182961.4(SYNE1):c.20647C>T (p.Arg6883Cys)
|
rs746823107
|
0.00001
|
|
NM_182961.4(SYNE1):c.20650A>G (p.Ile6884Val)
|
rs752179906
|
0.00001
|
|
NM_182961.4(SYNE1):c.20691C>T (p.Ala6897=)
|
rs775882254
|
0.00001
|
|
NM_182961.4(SYNE1):c.20762G>A (p.Ser6921Asn)
|
rs372288820
|
0.00001
|
|
NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val)
|
rs191912037
|
0.00001
|
|
NM_182961.4(SYNE1):c.20836A>G (p.Ile6946Val)
|
rs758767378
|
0.00001
|
|
NM_182961.4(SYNE1):c.2086G>A (p.Glu696Lys)
|
rs746477050
|
0.00001
|
|
NM_182961.4(SYNE1):c.20920G>A (p.Val6974Met)
|
rs767422903
|
0.00001
|
|
NM_182961.4(SYNE1):c.20955G>A (p.Lys6985=)
|
rs138024258
|
0.00001
|
|
NM_182961.4(SYNE1):c.20957G>A (p.Arg6986His)
|
rs772675312
|
0.00001
|
|
NM_182961.4(SYNE1):c.20964T>C (p.Asp6988=)
|
rs1361567937
|
0.00001
|
|
NM_182961.4(SYNE1):c.21039+6C>G
|
rs368575705
|
0.00001
|
|
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala)
|
rs777755452
|
0.00001
|
|
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)
|
rs763325410
|
0.00001
|
|
NM_182961.4(SYNE1):c.21163G>C (p.Ala7055Pro)
|
rs772233604
|
0.00001
|
|
NM_182961.4(SYNE1):c.2118G>A (p.Met706Ile)
|
rs757676303
|
0.00001
|
|
NM_182961.4(SYNE1):c.21197A>G (p.Asp7066Gly)
|
rs755014049
|
0.00001
|
|
NM_182961.4(SYNE1):c.21199C>G (p.Leu7067Val)
|
rs749058571
|
0.00001
|
|
NM_182961.4(SYNE1):c.21302T>G (p.Met7101Arg)
|
rs769405487
|
0.00001
|
|
NM_182961.4(SYNE1):c.21352-19T>C
|
rs1316209013
|
0.00001
|
|
NM_182961.4(SYNE1):c.21426A>T (p.Ile7142=)
|
rs775691059
|
0.00001
|
|
NM_182961.4(SYNE1):c.21523-19G>A
|
rs1480392957
|
0.00001
|
|
NM_182961.4(SYNE1):c.2155A>G (p.Thr719Ala)
|
rs1792916692
|
0.00001
|
|
NM_182961.4(SYNE1):c.21610C>A (p.Pro7204Thr)
|
rs1257118792
|
0.00001
|
|
NM_182961.4(SYNE1):c.21652A>G (p.Met7218Val)
|
rs763768133
|
0.00001
|
|
NM_182961.4(SYNE1):c.21657-19T>C
|
rs993085792
|
0.00001
|
|
NM_182961.4(SYNE1):c.21663T>C (p.Asn7221=)
|
rs1413291850
|
0.00001
|
|
NM_182961.4(SYNE1):c.2168T>C (p.Phe723Ser)
|
rs1348902701
|
0.00001
|
|
NM_182961.4(SYNE1):c.21702C>T (p.Ser7234=)
|
rs763751486
|
0.00001
|
|
NM_182961.4(SYNE1):c.21758C>T (p.Ser7253Leu)
|
rs749718460
|
0.00001
|
|
NM_182961.4(SYNE1):c.21759G>A (p.Ser7253=)
|
rs775672135
|
0.00001
|
|
NM_182961.4(SYNE1):c.2175G>A (p.Thr725=)
|
rs1023357286
|
0.00001
|
|
NM_182961.4(SYNE1):c.21798G>C (p.Leu7266Phe)
|
rs760237153
|
0.00001
|
|
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg)
|
rs764715827
|
0.00001
|
|
NM_182961.4(SYNE1):c.21825C>T (p.Ala7275=)
|
rs746044264
|
0.00001
|
|
NM_182961.4(SYNE1):c.21835G>A (p.Val7279Ile)
|
rs747185019
|
0.00001
|
|
NM_182961.4(SYNE1):c.21862-4C>T
|
rs772311271
|
0.00001
|
|
NM_182961.4(SYNE1):c.21907C>T (p.Leu7303Phe)
|
rs753138419
|
0.00001
|
|
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr)
|
rs1029115177
|
0.00001
|
|
NM_182961.4(SYNE1):c.22045-17C>A
|
rs750865625
|
0.00001
|
|
NM_182961.4(SYNE1):c.22163C>T (p.Thr7388Ile)
|
rs938003229
|
0.00001
|
|
NM_182961.4(SYNE1):c.22171G>A (p.Glu7391Lys)
|
rs751761981
|
0.00001
|
|
NM_182961.4(SYNE1):c.22260A>G (p.Leu7420=)
|
rs900883985
|
0.00001
|
|
NM_182961.4(SYNE1):c.22263C>T (p.Pro7421=)
|
rs774062465
|
0.00001
|
|
NM_182961.4(SYNE1):c.22304G>A (p.Arg7435His)
|
rs748260996
|
0.00001
|
|
NM_182961.4(SYNE1):c.22308T>C (p.His7436=)
|
rs538357613
|
0.00001
|
|
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=)
|
rs745722568
|
0.00001
|
|
NM_182961.4(SYNE1):c.22405A>G (p.Met7469Val)
|
rs751450784
|
0.00001
|
|
NM_182961.4(SYNE1):c.22431A>C (p.Gln7477His)
|
rs752421314
|
0.00001
|
|
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys)
|
rs762050668
|
0.00001
|
|
NM_182961.4(SYNE1):c.22543A>G (p.Ile7515Val)
|
rs369260919
|
0.00001
|
|
NM_182961.4(SYNE1):c.22557A>G (p.Gln7519=)
|
rs779555194
|
0.00001
|
|
NM_182961.4(SYNE1):c.22602C>G (p.Asn7534Lys)
|
rs1383141765
|
0.00001
|
|
NM_182961.4(SYNE1):c.22646G>A (p.Arg7549His)
|
rs201841732
|
0.00001
|
|
NM_182961.4(SYNE1):c.22693T>C (p.Trp7565Arg)
|
rs1166773141
|
0.00001
|
|
NM_182961.4(SYNE1):c.22733G>T (p.Trp7578Leu)
|
rs1215390720
|
0.00001
|
|
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter)
|
rs780634258
|
0.00001
|
|
NM_182961.4(SYNE1):c.22735T>A (p.Leu7579Met)
|
rs1257304725
|
0.00001
|
|
NM_182961.4(SYNE1):c.22744G>A (p.Val7582Met)
|
rs748623485
|
0.00001
|
|
NM_182961.4(SYNE1):c.22770C>T (p.Leu7590=)
|
rs765032226
|
0.00001
|
|
NM_182961.4(SYNE1):c.22771G>A (p.Gly7591Arg)
|
rs886042946
|
0.00001
|
|
NM_182961.4(SYNE1):c.22772G>A (p.Gly7591Glu)
|
rs540603947
|
0.00001
|
|
NM_182961.4(SYNE1):c.22824+19T>C
|
rs367932651
|
0.00001
|
|
NM_182961.4(SYNE1):c.22825-14A>G
|
rs201610447
|
0.00001
|
|
NM_182961.4(SYNE1):c.22834A>G (p.Lys7612Glu)
|
rs1434935687
|
0.00001
|
|
NM_182961.4(SYNE1):c.22837G>C (p.Val7613Leu)
|
rs776253447
|
0.00001
|
|
NM_182961.4(SYNE1):c.22838T>C (p.Val7613Ala)
|
rs1402188826
|
0.00001
|
|
NM_182961.4(SYNE1):c.22847G>A (p.Arg7616Gln)
|
rs780964504
|
0.00001
|
|
NM_182961.4(SYNE1):c.22887G>A (p.Lys7629=)
|
rs780771518
|
0.00001
|
|
NM_182961.4(SYNE1):c.22905G>A (p.Ala7635=)
|
rs758511859
|
0.00001
|
|
NM_182961.4(SYNE1):c.22914C>T (p.Gly7638=)
|
rs772920041
|
0.00001
|
|
NM_182961.4(SYNE1):c.22929G>T (p.Leu7643Phe)
|
rs764300736
|
0.00001
|
|
NM_182961.4(SYNE1):c.22941C>T (p.Leu7647=)
|
rs747134735
|
0.00001
|
|
NM_182961.4(SYNE1):c.22986A>C (p.Glu7662Asp)
|
rs763100950
|
0.00001
|
|
NM_182961.4(SYNE1):c.2299A>C (p.Thr767Pro)
|
rs1350005154
|
0.00001
|
|
NM_182961.4(SYNE1):c.2300C>T (p.Thr767Ile)
|
rs750186803
|
0.00001
|
|
NM_182961.4(SYNE1):c.23069G>A (p.Arg7690Gln)
|
rs1204207131
|
0.00001
|
|
NM_182961.4(SYNE1):c.23100C>T (p.Leu7700=)
|
rs1020807218
|
0.00001
|
|
NM_182961.4(SYNE1):c.23116G>C (p.Glu7706Gln)
|
rs200066979
|
0.00001
|
|
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His)
|
rs750911961
|
0.00001
|
|
NM_182961.4(SYNE1):c.23148A>G (p.Glu7716=)
|
rs768057206
|
0.00001
|
|
NM_182961.4(SYNE1):c.23162T>C (p.Val7721Ala)
|
rs374073415
|
0.00001
|
|
NM_182961.4(SYNE1):c.23190G>A (p.Gln7730=)
|
rs370445850
|
0.00001
|
|
NM_182961.4(SYNE1):c.23243C>G (p.Ser7748Cys)
|
rs1289070478
|
0.00001
|
|
NM_182961.4(SYNE1):c.23248C>T (p.Leu7750Phe)
|
rs778500015
|
0.00001
|
|
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His)
|
rs779568455
|
0.00001
|
|
NM_182961.4(SYNE1):c.23271G>A (p.Leu7757=)
|
rs993878825
|
0.00001
|
|
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly)
|
rs765427429
|
0.00001
|
|
NM_182961.4(SYNE1):c.23301+10G>A
|
rs113526858
|
0.00001
|
|
NM_182961.4(SYNE1):c.23374C>A (p.Leu7792Ile)
|
rs376844951
|
0.00001
|
|
NM_182961.4(SYNE1):c.23406A>G (p.Lys7802=)
|
rs780485635
|
0.00001
|
|
NM_182961.4(SYNE1):c.23444T>C (p.Ile7815Thr)
|
rs1391158473
|
0.00001
|
|
NM_182961.4(SYNE1):c.23460+10G>A
|
rs376484866
|
0.00001
|
|
NM_182961.4(SYNE1):c.2347A>C (p.Lys783Gln)
|
rs1259951823
|
0.00001
|
|
NM_182961.4(SYNE1):c.23549G>T (p.Ser7850Ile)
|
rs781532655
|
0.00001
|
|
NM_182961.4(SYNE1):c.23617A>G (p.Ile7873Val)
|
rs1249661326
|
0.00001
|
|
NM_182961.4(SYNE1):c.23628-20T>C
|
rs1242408253
|
0.00001
|
|
NM_182961.4(SYNE1):c.23703C>T (p.Leu7901=)
|
rs998453025
|
0.00001
|
|
NM_182961.4(SYNE1):c.2374C>T (p.Leu792Phe)
|
rs1172072268
|
0.00001
|
|
NM_182961.4(SYNE1):c.23766A>G (p.Ile7922Met)
|
rs1399057012
|
0.00001
|
|
NM_182961.4(SYNE1):c.23771G>A (p.Arg7924Lys)
|
rs1178007789
|
0.00001
|
|
NM_182961.4(SYNE1):c.23791-5T>C
|
rs2061329366
|
0.00001
|
|
NM_182961.4(SYNE1):c.23890G>A (p.Ala7964Thr)
|
rs780744047
|
0.00001
|
|
NM_182961.4(SYNE1):c.23893G>A (p.Glu7965Lys)
|
rs753219547
|
0.00001
|
|
NM_182961.4(SYNE1):c.23918C>T (p.Thr7973Met)
|
rs558928607
|
0.00001
|
|
NM_182961.4(SYNE1):c.23935C>T (p.Arg7979Trp)
|
rs762991088
|
0.00001
|
|
NM_182961.4(SYNE1):c.23936G>A (p.Arg7979Gln)
|
rs769773495
|
0.00001
|
|
NM_182961.4(SYNE1):c.23957T>C (p.Met7986Thr)
|
rs146463833
|
0.00001
|
|
NM_182961.4(SYNE1):c.23969G>A (p.Arg7990Lys)
|
rs777371816
|
0.00001
|
|
NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=)
|
rs572195368
|
0.00001
|
|
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln)
|
rs267600862
|
0.00001
|
|
NM_182961.4(SYNE1):c.24004C>G (p.Gln8002Glu)
|
rs1361081346
|
0.00001
|
|
NM_182961.4(SYNE1):c.24029G>A (p.Arg8010His)
|
rs776221173
|
0.00001
|
|
NM_182961.4(SYNE1):c.2412C>T (p.Ser804=)
|
rs1384388900
|
0.00001
|
|
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter)
|
rs1174316105
|
0.00001
|
|
NM_182961.4(SYNE1):c.24191G>A (p.Arg8064His)
|
rs1042685641
|
0.00001
|
|
NM_182961.4(SYNE1):c.24211C>T (p.Arg8071Cys)
|
rs1380424994
|
0.00001
|
|
NM_182961.4(SYNE1):c.24212G>A (p.Arg8071His)
|
rs1338634888
|
0.00001
|
|
NM_182961.4(SYNE1):c.24273C>T (p.Asn8091=)
|
rs774885671
|
0.00001
|
|
NM_182961.4(SYNE1):c.24312+8C>G
|
rs780026181
|
0.00001
|
|
NM_182961.4(SYNE1):c.24330T>C (p.Arg8110=)
|
rs994710536
|
0.00001
|
|
NM_182961.4(SYNE1):c.24350G>A (p.Arg8117Gln)
|
rs777435137
|
0.00001
|
|
NM_182961.4(SYNE1):c.24401T>C (p.Ile8134Thr)
|
rs774707282
|
0.00001
|
|
NM_182961.4(SYNE1):c.24420T>C (p.Cys8140=)
|
rs1437033330
|
0.00001
|
|
NM_182961.4(SYNE1):c.24423T>C (p.Asp8141=)
|
rs1257978665
|
0.00001
|
|
NM_182961.4(SYNE1):c.24424G>T (p.Val8142Phe)
|
rs1389166406
|
0.00001
|
|
NM_182961.4(SYNE1):c.24429A>T (p.Gln8143His)
|
rs775617906
|
0.00001
|
|
NM_182961.4(SYNE1):c.24535C>A (p.Pro8179Thr)
|
rs2060075935
|
0.00001
|
|
NM_182961.4(SYNE1):c.24549G>A (p.Ala8183=)
|
rs755622688
|
0.00001
|
|
NM_182961.4(SYNE1):c.24552C>T (p.Ile8184=)
|
rs563494219
|
0.00001
|
|
NM_182961.4(SYNE1):c.24566T>A (p.Leu8189Gln)
|
rs201193141
|
0.00001
|
|
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)
|
rs370421580
|
0.00001
|
|
NM_182961.4(SYNE1):c.24601G>A (p.Gly8201Arg)
|
rs886042886
|
0.00001
|
|
NM_182961.4(SYNE1):c.24613A>C (p.Arg8205=)
|
rs779904585
|
0.00001
|
|
NM_182961.4(SYNE1):c.24618C>T (p.Tyr8206=)
|
rs373486168
|
0.00001
|
|
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=)
|
rs201078523
|
0.00001
|
|
NM_182961.4(SYNE1):c.24728G>A (p.Arg8243His)
|
rs150571577
|
0.00001
|
|
NM_182961.4(SYNE1):c.24771C>T (p.Leu8257=)
|
rs2059847697
|
0.00001
|
|
NM_182961.4(SYNE1):c.24801C>T (p.Ser8267=)
|
rs754900484
|
0.00001
|
|
NM_182961.4(SYNE1):c.24839C>G (p.Ser8280Cys)
|
rs1480247904
|
0.00001
|
|
NM_182961.4(SYNE1):c.24867T>C (p.Tyr8289=)
|
rs794727110
|
0.00001
|
|
NM_182961.4(SYNE1):c.2487C>T (p.Asp829=)
|
rs753367709
|
0.00001
|
|
NM_182961.4(SYNE1):c.24949T>C (p.Tyr8317His)
|
rs777322468
|
0.00001
|
|
NM_182961.4(SYNE1):c.24983A>G (p.His8328Arg)
|
rs1239507497
|
0.00001
|
|
NM_182961.4(SYNE1):c.25007G>A (p.Arg8336Gln)
|
rs200684943
|
0.00001
|
|
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)
|
rs797046025
|
0.00001
|
|
NM_182961.4(SYNE1):c.25015G>T (p.Gly8339Cys)
|
rs747768163
|
0.00001
|
|
NM_182961.4(SYNE1):c.25032T>C (p.Asp8344=)
|
rs779618522
|
0.00001
|
|
NM_182961.4(SYNE1):c.25037G>A (p.Arg8346His)
|
rs778080338
|
0.00001
|
|
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=)
|
rs200678102
|
0.00001
|
|
NM_182961.4(SYNE1):c.25062T>C (p.Asn8354=)
|
rs765407593
|
0.00001
|
|
NM_182961.4(SYNE1):c.25119C>T (p.Tyr8373=)
|
rs144685965
|
0.00001
|
|
NM_182961.4(SYNE1):c.25132G>A (p.Gly8378Ser)
|
rs780271781
|
0.00001
|
|
NM_182961.4(SYNE1):c.25144A>G (p.Ser8382Gly)
|
rs1306354261
|
0.00001
|
|
NM_182961.4(SYNE1):c.25225A>G (p.Ser8409Gly)
|
rs200377339
|
0.00001
|
|
NM_182961.4(SYNE1):c.25246+3G>A
|
rs765849365
|
0.00001
|
|
NM_182961.4(SYNE1):c.25246+8C>T
|
rs760126474
|
0.00001
|
|
NM_182961.4(SYNE1):c.25362C>T (p.Ala8454=)
|
rs773341728
|
0.00001
|
|
NM_182961.4(SYNE1):c.25376C>T (p.Thr8459Met)
|
rs371112679
|
0.00001
|
|
NM_182961.4(SYNE1):c.25447A>G (p.Lys8483Glu)
|
rs1253032018
|
0.00001
|
|
NM_182961.4(SYNE1):c.25508A>G (p.Asn8503Ser)
|
rs756645782
|
0.00001
|
|
NM_182961.4(SYNE1):c.25552C>T (p.Arg8518Trp)
|
rs375616724
|
0.00001
|
|
NM_182961.4(SYNE1):c.25553G>A (p.Arg8518Gln)
|
rs370008122
|
0.00001
|
|
NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His)
|
rs759577495
|
0.00001
|
|
NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala)
|
rs746452797
|
0.00001
|
|
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp)
|
rs764235096
|
0.00001
|
|
NM_182961.4(SYNE1):c.25637A>G (p.Gln8546Arg)
|
rs529921934
|
0.00001
|
|
NM_182961.4(SYNE1):c.25650G>A (p.Met8550Ile)
|
rs1354935363
|
0.00001
|
|
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=)
|
rs747858299
|
0.00001
|
|
NM_182961.4(SYNE1):c.25706T>C (p.Ile8569Thr)
|
rs760698113
|
0.00001
|
|
NM_182961.4(SYNE1):c.25724A>T (p.Glu8575Val)
|
rs1258380992
|
0.00001
|
|
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val)
|
rs200178554
|
0.00001
|
|
NM_182961.4(SYNE1):c.25736T>C (p.Ile8579Thr)
|
rs370566643
|
0.00001
|
|
NM_182961.4(SYNE1):c.25789-12T>G
|
rs775060646
|
0.00001
|
|
NM_182961.4(SYNE1):c.25860G>A (p.Leu8620=)
|
rs751355623
|
0.00001
|
|
NM_182961.4(SYNE1):c.2594G>A (p.Cys865Tyr)
|
rs1229969547
|
0.00001
|
|
NM_182961.4(SYNE1):c.25951C>T (p.Arg8651Cys)
|
rs149045775
|
0.00001
|
|
NM_182961.4(SYNE1):c.26001+4A>G
|
rs746958913
|
0.00001
|
|
NM_182961.4(SYNE1):c.26072G>A (p.Ser8691Asn)
|
rs753533241
|
0.00001
|
|
NM_182961.4(SYNE1):c.26078C>A (p.Pro8693Gln)
|
rs147829200
|
0.00001
|
|
NM_182961.4(SYNE1):c.2608A>T (p.Thr870Ser)
|
rs773195787
|
0.00001
|
|
NM_182961.4(SYNE1):c.26099G>A (p.Arg8700Gln)
|
rs758942329
|
0.00001
|
|
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=)
|
rs765865910
|
0.00001
|
|
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn)
|
rs767663894
|
0.00001
|
|
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe)
|
rs751627369
|
0.00001
|
|
NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His)
|
rs1276774540
|
0.00001
|
|
NM_182961.4(SYNE1):c.26214C>T (p.Arg8738=)
|
rs529628600
|
0.00001
|
|
NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser)
|
rs780574537
|
0.00001
|
|
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln)
|
rs757466963
|
0.00001
|
|
NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln)
|
rs550697327
|
0.00001
|
|
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe)
|
rs747405346
|
0.00001
|
|
NM_182961.4(SYNE1):c.2661C>T (p.Asn887=)
|
rs780865643
|
0.00001
|
|
NM_182961.4(SYNE1):c.2662G>A (p.Val888Met)
|
rs756888254
|
0.00001
|
|
NM_182961.4(SYNE1):c.2685G>A (p.Thr895=)
|
rs754176545
|
0.00001
|
|
NM_182961.4(SYNE1):c.2693A>T (p.Gln898Leu)
|
rs898451919
|
0.00001
|
|
NM_182961.4(SYNE1):c.269C>T (p.Ala90Val)
|
rs2099133562
|
0.00001
|
|
NM_182961.4(SYNE1):c.26G>A (p.Arg9Gln)
|
rs1196383268
|
0.00001
|
|
NM_182961.4(SYNE1):c.2727+8G>T
|
rs112473275
|
0.00001
|
|
NM_182961.4(SYNE1):c.2728-5T>A
|
rs775558169
|
0.00001
|
|
NM_182961.4(SYNE1):c.2768A>T (p.Glu923Val)
|
rs376880609
|
0.00001
|
|
NM_182961.4(SYNE1):c.2807G>A (p.Arg936Gln)
|
rs537794828
|
0.00001
|
|
NM_182961.4(SYNE1):c.2809G>A (p.Ala937Thr)
|
rs570242828
|
0.00001
|
|
NM_182961.4(SYNE1):c.2892+7C>T
|
rs1372175734
|
0.00001
|
|
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn)
|
rs1374710512
|
0.00001
|
|
NM_182961.4(SYNE1):c.3028-4G>A
|
rs1380560355
|
0.00001
|
|
NM_182961.4(SYNE1):c.3046C>T (p.Pro1016Ser)
|
rs763255748
|
0.00001
|
|
NM_182961.4(SYNE1):c.3087T>C (p.Asn1029=)
|
rs770801617
|
0.00001
|
|
NM_182961.4(SYNE1):c.310-11T>G
|
rs1241486044
|
0.00001
|
|
NM_182961.4(SYNE1):c.310-469C>T
|
rs762351812
|
0.00001
|
|
NM_182961.4(SYNE1):c.310-485A>G
|
rs764771842
|
0.00001
|
|
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln)
|
rs199888697
|
0.00001
|
|
NM_182961.4(SYNE1):c.3168G>T (p.Lys1056Asn)
|
rs144982424
|
0.00001
|
|
NM_182961.4(SYNE1):c.3185G>A (p.Arg1062Lys)
|
rs771821092
|
0.00001
|
|
NM_182961.4(SYNE1):c.3186+5G>A
|
rs778578295
|
0.00001
|
|
NM_182961.4(SYNE1):c.3382G>C (p.Asp1128His)
|
rs886061213
|
0.00001
|
|
NM_182961.4(SYNE1):c.3387C>T (p.Tyr1129=)
|
rs561575834
|
0.00001
|
|
NM_182961.4(SYNE1):c.3396-15C>T
|
rs535421518
|
0.00001
|
|
NM_182961.4(SYNE1):c.3454G>A (p.Gly1152Ser)
|
rs749547744
|
0.00001
|
|
NM_182961.4(SYNE1):c.3462C>T (p.Ala1154=)
|
rs1485702967
|
0.00001
|
|
NM_182961.4(SYNE1):c.3499G>A (p.Val1167Ile)
|
rs142734877
|
0.00001
|
|
NM_182961.4(SYNE1):c.3504+5G>A
|
rs1398879746
|
0.00001
|
|
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val)
|
rs750101869
|
0.00001
|
|
NM_182961.4(SYNE1):c.3541C>T (p.Leu1181Phe)
|
rs1203451912
|
0.00001
|
|
NM_182961.4(SYNE1):c.3638C>A (p.Ser1213Tyr)
|
rs1226690928
|
0.00001
|
|
NM_182961.4(SYNE1):c.3643A>C (p.Lys1215Gln)
|
rs370014940
|
0.00001
|
|
NM_182961.4(SYNE1):c.3656C>T (p.Thr1219Met)
|
rs767097288
|
0.00001
|
|
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=)
|
rs758375991
|
0.00001
|
|
NM_182961.4(SYNE1):c.3740A>G (p.Glu1247Gly)
|
rs908679898
|
0.00001
|
|
NM_182961.4(SYNE1):c.3762A>T (p.Glu1254Asp)
|
rs745616824
|
0.00001
|
|
NM_182961.4(SYNE1):c.384C>G (p.Thr128=)
|
rs773315965
|
0.00001
|
|
NM_182961.4(SYNE1):c.386T>C (p.Ile129Thr)
|
rs1029244968
|
0.00001
|
|
NM_182961.4(SYNE1):c.3883C>G (p.Gln1295Glu)
|
rs750865008
|
0.00001
|
|
NM_182961.4(SYNE1):c.3912G>T (p.Gly1304=)
|
rs199595574
|
0.00001
|
|
NM_182961.4(SYNE1):c.3985G>C (p.Glu1329Gln)
|
rs985588823
|
0.00001
|
|
NM_182961.4(SYNE1):c.4044C>T (p.Asn1348=)
|
rs765010255
|
0.00001
|
|
NM_182961.4(SYNE1):c.4093C>T (p.Arg1365Cys)
|
rs770015858
|
0.00001
|
|
NM_182961.4(SYNE1):c.4192A>G (p.Asn1398Asp)
|
rs758427132
|
0.00001
|
|
NM_182961.4(SYNE1):c.41T>A (p.Ile14Asn)
|
rs202235488
|
0.00001
|
|
NM_182961.4(SYNE1):c.436C>G (p.Gln146Glu)
|
rs1302474521
|
0.00001
|
|
NM_182961.4(SYNE1):c.4424C>T (p.Ser1475Leu)
|
rs767883709
|
0.00001
|
|
NM_182961.4(SYNE1):c.4436T>A (p.Met1479Lys)
|
rs1218913029
|
0.00001
|
|
NM_182961.4(SYNE1):c.4439A>G (p.Asp1480Gly)
|
rs1289977041
|
0.00001
|
|
NM_182961.4(SYNE1):c.4462-7C>A
|
rs776393742
|
0.00001
|
|
NM_182961.4(SYNE1):c.4499T>A (p.Ile1500Asn)
|
rs746438011
|
0.00001
|
|
NM_182961.4(SYNE1):c.4517A>C (p.Glu1506Ala)
|
rs577388500
|
0.00001
|
|
NM_182961.4(SYNE1):c.4524G>T (p.Gln1508His)
|
rs1378400021
|
0.00001
|
|
NM_182961.4(SYNE1):c.454G>A (p.Ala152Thr)
|
rs750659947
|
0.00001
|
|
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter)
|
rs771760718
|
0.00001
|
|
NM_182961.4(SYNE1):c.4597G>A (p.Gly1533Arg)
|
rs573641821
|
0.00001
|
|
NM_182961.4(SYNE1):c.4609C>G (p.Arg1537Gly)
|
rs983431074
|
0.00001
|
|
NM_182961.4(SYNE1):c.4637C>A (p.Thr1546Lys)
|
rs755101379
|
0.00001
|
|
NM_182961.4(SYNE1):c.4809G>A (p.Glu1603=)
|
rs758316270
|
0.00001
|
|
NM_182961.4(SYNE1):c.4844G>C (p.Ser1615Thr)
|
rs775729666
|
0.00001
|
|
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=)
|
rs886042121
|
0.00001
|
|
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val)
|
rs566004273
|
0.00001
|
|
NM_182961.4(SYNE1):c.4928C>T (p.Ala1643Val)
|
rs753598584
|
0.00001
|
|
NM_182961.4(SYNE1):c.4943C>T (p.Thr1648Met)
|
rs199797561
|
0.00001
|
|
NM_182961.4(SYNE1):c.5010G>T (p.Trp1670Cys)
|
rs373448917
|
0.00001
|
|
NM_182961.4(SYNE1):c.502A>G (p.Ser168Gly)
|
rs776344465
|
0.00001
|
|
NM_182961.4(SYNE1):c.5032G>A (p.Ala1678Thr)
|
rs1554680800
|
0.00001
|
|
NM_182961.4(SYNE1):c.5037T>C (p.Ser1679=)
|
rs1010531718
|
0.00001
|
|
NM_182961.4(SYNE1):c.5056T>C (p.Ser1686Pro)
|
rs1364310674
|
0.00001
|
|
NM_182961.4(SYNE1):c.5088T>G (p.Leu1696=)
|
rs767477486
|
0.00001
|
|
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp)
|
rs777175001
|
0.00001
|
|
NM_182961.4(SYNE1):c.5108A>G (p.Gln1703Arg)
|
rs200766001
|
0.00001
|
|
NM_182961.4(SYNE1):c.5220G>A (p.Glu1740=)
|
rs751765439
|
0.00001
|
|
NM_182961.4(SYNE1):c.5256C>A (p.Ile1752=)
|
rs587780469
|
0.00001
|
|
NM_182961.4(SYNE1):c.5291T>C (p.Val1764Ala)
|
rs761352115
|
0.00001
|
|
NM_182961.4(SYNE1):c.5390T>C (p.Met1797Thr)
|
rs1481121106
|
0.00001
|
|
NM_182961.4(SYNE1):c.5421+5A>T
|
rs755875029
|
0.00001
|
|
NM_182961.4(SYNE1):c.5422-7C>T
|
rs757136765
|
0.00001
|
|
NM_182961.4(SYNE1):c.5515C>T (p.Leu1839Phe)
|
rs746812274
|
0.00001
|
|
NM_182961.4(SYNE1):c.5556G>A (p.Leu1852=)
|
rs762111366
|
0.00001
|
|
NM_182961.4(SYNE1):c.5711T>G (p.Leu1904Trp)
|
rs1179461369
|
0.00001
|
|
NM_182961.4(SYNE1):c.5722G>T (p.Asp1908Tyr)
|
rs369176646
|
0.00001
|
|
NM_182961.4(SYNE1):c.5831A>G (p.Gln1944Arg)
|
rs1483236627
|
0.00001
|
|
NM_182961.4(SYNE1):c.5843G>T (p.Cys1948Phe)
|
rs761812821
|
0.00001
|
|
NM_182961.4(SYNE1):c.586A>G (p.Thr196Ala)
|
rs773890189
|
0.00001
|
|
NM_182961.4(SYNE1):c.5923G>T (p.Ala1975Ser)
|
rs750263410
|
0.00001
|
|
NM_182961.4(SYNE1):c.592A>G (p.Ile198Val)
|
rs746384499
|
0.00001
|
|
NM_182961.4(SYNE1):c.598G>A (p.Val200Ile)
|
rs1467783489
|
0.00001
|
|
NM_182961.4(SYNE1):c.600A>T (p.Val200=)
|
rs781563259
|
0.00001
|
|
NM_182961.4(SYNE1):c.6027T>A (p.Pro2009=)
|
rs1181492707
|
0.00001
|
|
NM_182961.4(SYNE1):c.6031C>T (p.Arg2011Cys)
|
rs767563434
|
0.00001
|
|
NM_182961.4(SYNE1):c.6051-15C>A
|
rs199794081
|
0.00001
|
|
NM_182961.4(SYNE1):c.6051-6T>C
|
rs1171413264
|
0.00001
|
|
NM_182961.4(SYNE1):c.6104T>C (p.Leu2035Pro)
|
rs2098103147
|
0.00001
|
|
NM_182961.4(SYNE1):c.6184C>T (p.Arg2062Cys)
|
rs746057788
|
0.00001
|
|
NM_182961.4(SYNE1):c.6231-7A>G
|
rs368858186
|
0.00001
|
|
NM_182961.4(SYNE1):c.6291T>C (p.Ala2097=)
|
rs767090248
|
0.00001
|
|
NM_182961.4(SYNE1):c.6381+15G>A
|
rs1316706320
|
0.00001
|
|
NM_182961.4(SYNE1):c.6402A>G (p.Lys2134=)
|
rs182732645
|
0.00001
|
|
NM_182961.4(SYNE1):c.6407A>G (p.Asn2136Ser)
|
rs754275815
|
0.00001
|
|
NM_182961.4(SYNE1):c.6416A>G (p.Gln2139Arg)
|
rs1014104831
|
0.00001
|
|
NM_182961.4(SYNE1):c.6524T>C (p.Val2175Ala)
|
rs376472102
|
0.00001
|
|
NM_182961.4(SYNE1):c.6540+11C>T
|
rs765474841
|
0.00001
|
|
NM_182961.4(SYNE1):c.6591C>T (p.Ser2197=)
|
rs190301879
|
0.00001
|
|
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter)
|
rs750266004
|
0.00001
|
|
NM_182961.4(SYNE1):c.6646T>C (p.Cys2216Arg)
|
rs1183559257
|
0.00001
|
|
NM_182961.4(SYNE1):c.6720T>C (p.Phe2240=)
|
rs758841233
|
0.00001
|
|
NM_182961.4(SYNE1):c.6723+1G>C
|
rs779302145
|
0.00001
|
|
NM_182961.4(SYNE1):c.6723+5A>C
|
rs755302313
|
0.00001
|
|
NM_182961.4(SYNE1):c.6724-6T>C
|
rs1441438677
|
0.00001
|
|
NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr)
|
rs371609288
|
0.00001
|
|
NM_182961.4(SYNE1):c.679T>C (p.Leu227=)
|
rs374438652
|
0.00001
|
|
NM_182961.4(SYNE1):c.6813G>A (p.Pro2271=)
|
rs138911730
|
0.00001
|
|
NM_182961.4(SYNE1):c.6883G>A (p.Ala2295Thr)
|
rs758161551
|
0.00001
|
|
NM_182961.4(SYNE1):c.6974A>G (p.Glu2325Gly)
|
rs777595583
|
0.00001
|
|
NM_182961.4(SYNE1):c.6977C>T (p.Ser2326Leu)
|
rs752405422
|
0.00001
|
|
NM_182961.4(SYNE1):c.6A>C (p.Ala2=)
|
rs757033067
|
0.00001
|
|
NM_182961.4(SYNE1):c.7030-4G>C
|
rs112853992
|
0.00001
|
|
NM_182961.4(SYNE1):c.7102C>T (p.Arg2368Cys)
|
rs780033455
|
0.00001
|
|
NM_182961.4(SYNE1):c.7139G>A (p.Arg2380His)
|
rs554035671
|
0.00001
|
|
NM_182961.4(SYNE1):c.7218T>C (p.Ser2406=)
|
rs947558246
|
0.00001
|
|
NM_182961.4(SYNE1):c.7267T>C (p.Leu2423=)
|
rs968854661
|
0.00001
|
|
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser)
|
rs140948068
|
0.00001
|
|
NM_182961.4(SYNE1):c.7364C>T (p.Ser2455Leu)
|
rs969369417
|
0.00001
|
|
NM_182961.4(SYNE1):c.738C>T (p.Ala246=)
|
rs370211240
|
0.00001
|
|
NM_182961.4(SYNE1):c.7434T>C (p.Ser2478=)
|
rs1340757793
|
0.00001
|
|
NM_182961.4(SYNE1):c.746A>T (p.Glu249Val)
|
rs750178248
|
0.00001
|
|
NM_182961.4(SYNE1):c.7475C>A (p.Ala2492Asp)
|
rs773876679
|
0.00001
|
|
NM_182961.4(SYNE1):c.7525G>T (p.Ala2509Ser)
|
rs748362030
|
0.00001
|
|
NM_182961.4(SYNE1):c.7537T>G (p.Cys2513Gly)
|
rs1271079717
|
0.00001
|
|
NM_182961.4(SYNE1):c.7545A>G (p.Ser2515=)
|
rs747473998
|
0.00001
|
|
NM_182961.4(SYNE1):c.7603G>A (p.Glu2535Lys)
|
rs764800126
|
0.00001
|
|
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser)
|
rs568309673
|
0.00001
|
|
NM_182961.4(SYNE1):c.7704G>T (p.Leu2568=)
|
rs766042710
|
0.00001
|
|
NM_182961.4(SYNE1):c.7714G>A (p.Glu2572Lys)
|
rs886061209
|
0.00001
|
|
NM_182961.4(SYNE1):c.7737G>A (p.Gln2579=)
|
rs1275065218
|
0.00001
|
|
NM_182961.4(SYNE1):c.7786C>T (p.Arg2596Cys)
|
rs768574390
|
0.00001
|
|
NM_182961.4(SYNE1):c.7797C>G (p.Ser2599=)
|
rs748909185
|
0.00001
|
|
NM_182961.4(SYNE1):c.781G>A (p.Val261Ile)
|
rs144069436
|
0.00001
|
|
NM_182961.4(SYNE1):c.7850G>A (p.Arg2617Gln)
|
rs769840610
|
0.00001
|
|
NM_182961.4(SYNE1):c.7873G>A (p.Glu2625Lys)
|
rs1186798259
|
0.00001
|
|
NM_182961.4(SYNE1):c.7879G>A (p.Glu2627Lys)
|
rs754203591
|
0.00001
|
|
NM_182961.4(SYNE1):c.7933G>A (p.Asp2645Asn)
|
rs775185806
|
0.00001
|
|
NM_182961.4(SYNE1):c.7987C>T (p.Arg2663Trp)
|
rs770461993
|
0.00001
|
|
NM_182961.4(SYNE1):c.8004+5A>G
|
rs746589347
|
0.00001
|
|
NM_182961.4(SYNE1):c.8004+9G>A
|
rs539649819
|
0.00001
|
|
NM_182961.4(SYNE1):c.801T>C (p.Asp267=)
|
rs1211961286
|
0.00001
|
|
NM_182961.4(SYNE1):c.8041T>C (p.Leu2681=)
|
rs758296829
|
0.00001
|
|
NM_182961.4(SYNE1):c.8081G>A (p.Ser2694Asn)
|
rs1241632741
|
0.00001
|
|
NM_182961.4(SYNE1):c.8106G>T (p.Val2702=)
|
rs770378849
|
0.00001
|
|
NM_182961.4(SYNE1):c.8148C>T (p.Asp2716=)
|
rs752872189
|
0.00001
|
|
NM_182961.4(SYNE1):c.8233T>C (p.Leu2745=)
|
rs541934779
|
0.00001
|
|
NM_182961.4(SYNE1):c.8379A>G (p.Leu2793=)
|
rs768912049
|
0.00001
|
|
NM_182961.4(SYNE1):c.8385G>A (p.Ala2795=)
|
rs267600863
|
0.00001
|
|
NM_182961.4(SYNE1):c.8462T>C (p.Phe2821Ser)
|
rs202207690
|
0.00001
|
|
NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile)
|
rs794727764
|
0.00001
|
|
NM_182961.4(SYNE1):c.8571T>C (p.His2857=)
|
rs886061207
|
0.00001
|
|
NM_182961.4(SYNE1):c.8593C>T (p.Arg2865Trp)
|
rs757720748
|
0.00001
|
|
NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=)
|
rs759736838
|
0.00001
|
|
NM_182961.4(SYNE1):c.8637G>A (p.Lys2879=)
|
rs146288148
|
0.00001
|
|
NM_182961.4(SYNE1):c.863C>T (p.Ala288Val)
|
rs746752458
|
0.00001
|
|
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)
|
rs119103243
|
0.00001
|
|
NM_182961.4(SYNE1):c.8762C>T (p.Thr2921Met)
|
rs371229610
|
0.00001
|
|
NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His)
|
rs148998248
|
0.00001
|
|
NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn)
|
rs143313866
|
0.00001
|
|
NM_182961.4(SYNE1):c.8814C>T (p.Phe2938=)
|
rs780165911
|
0.00001
|
|
NM_182961.4(SYNE1):c.8820G>T (p.Thr2940=)
|
rs769247891
|
0.00001
|
|
NM_182961.4(SYNE1):c.8844C>T (p.Val2948=)
|
rs750603610
|
0.00001
|
|
NM_182961.4(SYNE1):c.8851A>G (p.Met2951Val)
|
rs1202916520
|
0.00001
|
|
NM_182961.4(SYNE1):c.8862G>A (p.Ser2954=)
|
rs139845890
|
0.00001
|
|
NM_182961.4(SYNE1):c.8905C>G (p.Leu2969Val)
|
rs753512972
|
0.00001
|
|
NM_182961.4(SYNE1):c.8918G>A (p.Ser2973Asn)
|
rs766072795
|
0.00001
|
|
NM_182961.4(SYNE1):c.8937G>C (p.Trp2979Cys)
|
rs760074927
|
0.00001
|
|
NM_182961.4(SYNE1):c.8994C>T (p.Cys2998=)
|
rs143974384
|
0.00001
|
|
NM_182961.4(SYNE1):c.9040C>T (p.Pro3014Ser)
|
rs200939886
|
0.00001
|
|
NM_182961.4(SYNE1):c.9046A>G (p.Thr3016Ala)
|
rs2097290792
|
0.00001
|
|
NM_182961.4(SYNE1):c.9169G>A (p.Gly3057Ser)
|
rs766846025
|
0.00001
|
|
NM_182961.4(SYNE1):c.9170G>A (p.Gly3057Asp)
|
rs761071366
|
0.00001
|
|
NM_182961.4(SYNE1):c.9194T>C (p.Leu3065Ser)
|
rs2097283921
|
0.00001
|
|
NM_182961.4(SYNE1):c.9255C>T (p.Ile3085=)
|
rs746663201
|
0.00001
|
|
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=)
|
rs199554198
|
0.00001
|
|
NM_182961.4(SYNE1):c.9280C>A (p.Pro3094Thr)
|
rs1591443794
|
0.00001
|
|
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg)
|
rs566953005
|
0.00001
|
|
NM_182961.4(SYNE1):c.9355C>T (p.His3119Tyr)
|
rs373615823
|
0.00001
|
|
NM_182961.4(SYNE1):c.9435C>G (p.Ala3145=)
|
rs750286179
|
0.00001
|
|
NM_182961.4(SYNE1):c.9472C>A (p.His3158Asn)
|
rs1484236534
|
0.00001
|
|
NM_182961.4(SYNE1):c.9507+18C>T
|
rs769887324
|
0.00001
|
|
NM_182961.4(SYNE1):c.9507+6T>C
|
rs372138410
|
0.00001
|
|
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys)
|
rs761121679
|
0.00001
|
|
NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr)
|
rs1398398021
|
0.00001
|
|
NM_182961.4(SYNE1):c.9616C>A (p.Leu3206Met)
|
rs587777426
|
0.00001
|
|
NM_182961.4(SYNE1):c.962A>G (p.Lys321Arg)
|
rs1295360409
|
0.00001
|
|
NM_182961.4(SYNE1):c.9726A>G (p.Glu3242=)
|
rs990051448
|
0.00001
|
|
NM_182961.4(SYNE1):c.9832A>G (p.Ile3278Val)
|
rs774469372
|
0.00001
|
|
NM_182961.4(SYNE1):c.9857C>T (p.Ser3286Phe)
|
rs770774159
|
0.00001
|
|
NM_182961.4(SYNE1):c.9926C>T (p.Pro3309Leu)
|
rs559031643
|
0.00001
|
|
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=)
|
rs759403157
|
0.00001
|
|
NM_182961.4(SYNE1):c.9941G>A (p.Ser3314Asn)
|
rs1188481121
|
0.00001
|
|
NM_182961.4(SYNE1):c.9994G>A (p.Glu3332Lys)
|
rs755075698
|
0.00001
|
|
GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0
|
|
|
|
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
|
|
|
|
NC_000006.11:g.(152861157_152949399)_(152949690_152957772)del
|
|
|
|
NC_000006.11:g.(?_152443551)_(152534914_?)dup
|
|
|
|
NC_000006.11:g.(?_152466612)_(152643033_?)dup
|
|
|
|
NC_000006.11:g.(?_152485278)_(152485480_?)del
|
|
|
|
NC_000006.11:g.(?_152527283)_(152532743_?)del
|
|
|
|
NC_000006.11:g.(?_152570395)_(152837167_?)del
|
|
|
|
NC_000006.11:g.(?_152599204)_(152603135_?)dup
|
|
|
|
NC_000006.11:g.(?_152650845)_(152653045_?)del
|
|
|
|
NC_000006.11:g.(?_152652198)_(152658654_?)del
|
|
|
|
NC_000006.11:g.(?_152716631)_(152765733_?)dup
|
|
|
|
NC_000006.11:g.(?_152949380)_(154441965_?)del
|
|
|
|
NC_000006.12:g.(?_152122416)_(153426916_?)del
|
|
|
|
NC_000007.13:g.(?_288261)_(912968_?)del
|
|
|
|
NC_000007.13:g.(?_769280)_(883177_?)del
|
|
|
|
NC_000007.13:g.(?_872162)_(872258_?)dup
|
|
|
|
NC_000007.13:g.(?_872162)_(912968_?)dup
|
|
|
|
NC_000007.14:g.(?_832495)_(873341_?)dup
|
|
|
|
NC_000014.8:g.(?_64375867)_(64375965_?)del
|
|
|
|
NC_000014.8:g.(?_64443261)_(64444755_?)del
|
|
|
|
NC_000014.8:g.(?_64458032)_(64460645_?)del
|
|
|
|
NC_000014.8:g.(?_64481620)_(64489461_?)del
|
|
|
|
NC_000014.8:g.(?_64484293)_(64484494_?)del
|
|
|
|
NC_000014.8:g.(?_64568640)_(64568770_?)del
|
|
|
|
NC_000014.8:g.(?_64587625)_(64587799_?)del
|
|
|
|
NC_000022.10:g.(?_37154355)_(39148633_?)del
|
|
|
|
NC_000023.10:g.(?_135284455)_(135289168_?)del
|
|
|
|
NC_000023.10:g.(?_135288556)_(135293528_?)del
|
|
|
|
NC_000023.10:g.(?_135288556)_(135293528_?)dup
|
|
|
|
NC_000023.10:g.(?_135288592)_(135292184_?)dup
|
|
|
|
NC_000023.10:g.(?_135288592)_(135741574_?)del
|
|
|
|
NC_000023.10:g.(?_135289169)_(135292189_?)dup
|
|
|
|
NC_000023.10:g.(?_135292010)_(135292184_?)del
|
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
|
NC_000023.10:g.(?_152954030)_(154005142_?)del
|
|
|
|
NC_000023.10:g.(?_152990712)_(153650075_?)del
|
|
|
|
NC_000023.10:g.(?_152990712)_(153650075_?)dup
|
|
|
|
NC_000023.10:g.(?_153128108)_(153609567_?)dup
|
|
|
|
NC_000023.10:g.(?_153357622)_(153664237_?)dup
|
|
|
|
NC_000023.10:g.(?_153577211)_(153640295_?)dup
|
|
|
|
NC_000023.10:g.(?_153577217)_(153609557_?)dup
|
|
|
|
NC_000023.10:g.(?_153587342)_(153609567_?)dup
|
|
|
|
NC_000023.10:g.(?_153607393)_(153608624_?)del
|
|
|
|
NC_000023.10:g.(?_153607825)_(153609577_?)del
|
|
|
|
NC_000023.10:g.(?_153607835)_(153609567_?)del
|
|
|
|
NC_000023.10:g.(?_153607835)_(153609567_?)dup
|
|
|
|
NC_000023.10:g.(?_153609093)_(153609182_?)del
|
|
|
|
NC_000023.10:g.(?_154379237)_(154381523_?)del
|
|
|
|
NC_000023.11:g.(?_136209233)_(136211369_?)del
|
|
|
|
NM_000117.2(EMD):c.-248_*326dup1339
|
|
|
|
NM_000117.3(EMD):c.-161CAACGATTCGGCTGTGACGCGA[1]
|
rs1463296648
|
|
|
NM_000117.3(EMD):c.101dup (p.Tyr34Ter)
|
rs1569552079
|
|
|
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter)
|
rs2148128122
|
|
|
NM_000117.3(EMD):c.102C>T (p.Tyr34=)
|
|
|
|
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)
|
rs782507902
|
|
|
NM_000117.3(EMD):c.105G>A (p.Glu35=)
|
|
|
|
NM_000117.3(EMD):c.110A>G (p.Lys37Arg)
|
|
|
|
NM_000117.3(EMD):c.110_111delinsTC (p.Lys37Ile)
|
|
|
|
NM_000117.3(EMD):c.114C>A (p.Ile38=)
|
rs2148128131
|
|
|
NM_000117.3(EMD):c.114C>T (p.Ile38=)
|
rs2148128131
|
|
|
NM_000117.3(EMD):c.115_117del (p.Phe39del)
|
rs781959238
|
|
|
NM_000117.3(EMD):c.116_143del (p.Phe39fs)
|
rs1569552080
|
|
|
NM_000117.3(EMD):c.118G>C (p.Glu40Gln)
|
rs2067875036
|
|
|
NM_000117.3(EMD):c.121T>G (p.Tyr41Asp)
|
|
|
|
NM_000117.3(EMD):c.121_155del (p.Tyr41fs)
|
rs1557182286
|
|
|
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)
|
rs1060502612
|
|
|
NM_000117.3(EMD):c.125del (p.Glu42fs)
|
rs2148128139
|
|
|
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter)
|
rs782011714
|
|
|
NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)
|
rs782011714
|
|
|
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
|
rs132630262
|
|
|
NM_000117.3(EMD):c.135dup (p.Arg46fs)
|
rs1557182301
|
|
|
NM_000117.3(EMD):c.136C>T (p.Arg46Trp)
|
rs2067875291
|
|
|
NM_000117.3(EMD):c.139C>T (p.Arg47Trp)
|
|
|
|
NM_000117.3(EMD):c.139_140dup (p.Leu48fs)
|
rs2148128153
|
|
|
NM_000117.3(EMD):c.143dup (p.Ser49fs)
|
|
|
|
NM_000117.3(EMD):c.144C>G (p.Leu48=)
|
rs200537612
|
|
|
NM_000117.3(EMD):c.152C>G (p.Pro51Arg)
|
|
|
|
NM_000117.3(EMD):c.153C>G (p.Pro51=)
|
rs782051850
|
|
|
NM_000117.3(EMD):c.153C>T (p.Pro51=)
|
rs782051850
|
|
|
NM_000117.3(EMD):c.153del (p.Ser52fs)
|
rs876661345
|
|
|
NM_000117.3(EMD):c.153dup (p.Ser52fs)
|
rs876661345
|
|
|
NM_000117.3(EMD):c.161C>T (p.Ser54Phe)
|
|
|
|
NM_000117.3(EMD):c.162C>T (p.Ser54=)
|
|
|
|
NM_000117.3(EMD):c.168CTC[1] (p.Ser58del)
|
|
|
|
NM_000117.3(EMD):c.16del (p.Asp6fs)
|
rs1569552076
|
|
|
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys)
|
rs2148128196
|
|
|
NM_000117.3(EMD):c.177T>C (p.Tyr59=)
|
|
|
|
NM_000117.3(EMD):c.178del (p.Ser60fs)
|
|
|
|
NM_000117.3(EMD):c.180C>G (p.Ser60Arg)
|
rs2067875771
|
|
|
NM_000117.3(EMD):c.180C>T (p.Ser60=)
|
|
|
|
NM_000117.3(EMD):c.187+11C>A
|
|
|
|
NM_000117.3(EMD):c.187+11C>T
|
|
|
|
NM_000117.3(EMD):c.187+12G>C
|
|
|
|
NM_000117.3(EMD):c.187+13C>T
|
|
|
|
NM_000117.3(EMD):c.187+16G>T
|
|
|
|
NM_000117.3(EMD):c.187+18G>A
|
|
|
|
NM_000117.3(EMD):c.187+1G>A
|
rs794729010
|
|
|
NM_000117.3(EMD):c.187+1G>T
|
rs794729010
|
|
|
NM_000117.3(EMD):c.187+20G>A
|
|
|
|
NM_000117.3(EMD):c.187+2T>G
|
|
|
|
NM_000117.3(EMD):c.187+4A>T
|
rs2148128205
|
|
|
NM_000117.3(EMD):c.187+5G>C
|
|
|
|
NM_000117.3(EMD):c.187+7G>A
|
|
|
|
NM_000117.3(EMD):c.187+7G>T
|
|
|
|
NM_000117.3(EMD):c.188-12C>G
|
|
|
|
NM_000117.3(EMD):c.188-14T>C
|
|
|
|
NM_000117.3(EMD):c.188-15C>G
|
|
|
|
NM_000117.3(EMD):c.188-18C>T
|
|
|
|
NM_000117.3(EMD):c.188-20del
|
|
|
|
NM_000117.3(EMD):c.188-4C>T
|
rs1557182352
|
|
|
NM_000117.3(EMD):c.188-6A>G
|
rs2148128297
|
|
|
NM_000117.3(EMD):c.188-6A>T
|
rs2148128297
|
|
|
NM_000117.3(EMD):c.188-7A>G
|
rs2148128296
|
|
|
NM_000117.3(EMD):c.188-8C>G
|
|
|
|
NM_000117.3(EMD):c.188A>G (p.Asp63Gly)
|
rs1557182355
|
|
|
NM_000117.3(EMD):c.189C>T (p.Asp63=)
|
rs2148128303
|
|
|
NM_000117.3(EMD):c.192G>C (p.Leu64Phe)
|
rs782066603
|
|
|
NM_000117.3(EMD):c.198G>C (p.Ser66=)
|
|
|
|
NM_000117.3(EMD):c.1A>G (p.Met1Val)
|
rs267606782
|
|
|
NM_000117.3(EMD):c.206G>A (p.Gly69Glu)
|
|
|
|
NM_000117.3(EMD):c.207G>A (p.Gly69=)
|
rs1557182361
|
|
|
NM_000117.3(EMD):c.208G>A (p.Asp70Asn)
|
|
|
|
NM_000117.3(EMD):c.208G>T (p.Asp70Tyr)
|
rs2148128314
|
|
|
NM_000117.3(EMD):c.209A>G (p.Asp70Gly)
|
|
|
|
NM_000117.3(EMD):c.20T>A (p.Leu7His)
|
rs794729016
|
|
|
NM_000117.3(EMD):c.217_218dup (p.Met73fs)
|
rs1557182364
|
|
|
NM_000117.3(EMD):c.218T>C (p.Met73Thr)
|
rs2148128327
|
|
|
NM_000117.3(EMD):c.226C>T (p.Leu76Phe)
|
|
|
|
NM_000117.3(EMD):c.229C>T (p.Pro77Ser)
|
rs1557182365
|
|
|
NM_000117.3(EMD):c.22del (p.Ser8fs)
|
|
|
|
NM_000117.3(EMD):c.231C>G (p.Pro77=)
|
|
|
|
NM_000117.3(EMD):c.231C>T (p.Pro77=)
|
rs2148128330
|
|
|
NM_000117.3(EMD):c.235A>G (p.Lys79Glu)
|
|
|
|
NM_000117.3(EMD):c.236A>G (p.Lys79Arg)
|
|
|
|
NM_000117.3(EMD):c.236_239del (p.Lys79fs)
|
|
|
|
NM_000117.3(EMD):c.237A>C (p.Lys79Asn)
|
|
|
|
NM_000117.3(EMD):c.23C>G (p.Ser8Trp)
|
rs869025400
|
|
|
NM_000117.3(EMD):c.23C>T (p.Ser8Leu)
|
rs869025400
|
|
|
NM_000117.3(EMD):c.246T>A (p.Ala82=)
|
rs2148128347
|
|
|
NM_000117.3(EMD):c.249A>G (p.Leu83=)
|
|
|
|
NM_000117.3(EMD):c.250C>G (p.Leu84Val)
|
|
|
|
NM_000117.3(EMD):c.251_255del (p.Leu84fs)
|
rs782452523
|
|
|
NM_000117.3(EMD):c.252C>G (p.Leu84=)
|
|
|
|
NM_000117.3(EMD):c.255C>T (p.Tyr85=)
|
rs1303189631
|
|
|
NM_000117.3(EMD):c.256C>T (p.Gln86Ter)
|
|
|
|
NM_000117.3(EMD):c.262A>T (p.Lys88Ter)
|
|
|
|
NM_000117.3(EMD):c.264G>C (p.Lys88Asn)
|
|
|
|
NM_000117.3(EMD):c.265+10G>A
|
|
|
|
NM_000117.3(EMD):c.265+11G>T
|
|
|
|
NM_000117.3(EMD):c.265+12G>T
|
|
|
|
NM_000117.3(EMD):c.265+17G>A
|
|
|
|
NM_000117.3(EMD):c.265+7_265+8insTTTACTCTACCAGAGCA
|
|
|
|
NM_000117.3(EMD):c.265+8A>G
|
|
|
|
NM_000117.3(EMD):c.266-10C>T
|
rs2067879183
|
|
|
NM_000117.3(EMD):c.266-10_266-9del
|
|
|
|
NM_000117.3(EMD):c.266-13C>A
|
|
|
|
NM_000117.3(EMD):c.266-13C>T
|
|
|
|
NM_000117.3(EMD):c.266-19del
|
|
|
|
NM_000117.3(EMD):c.266-2A>G
|
rs727503036
|
|
|
NM_000117.3(EMD):c.266-35_266-18dup
|
rs200992013
|
|
|
NM_000117.3(EMD):c.266-3A>G
|
rs2148128459
|
|
|
NM_000117.3(EMD):c.266-9C>G
|
|
|
|
NM_000117.3(EMD):c.266-9C>T
|
rs782152177
|
|
|
NM_000117.3(EMD):c.266-9dup
|
|
|
|
NM_000117.3(EMD):c.270C>T (p.Tyr90=)
|
rs2148128465
|
|
|
NM_000117.3(EMD):c.271A>G (p.Asn91Asp)
|
rs2067879275
|
|
|
NM_000117.3(EMD):c.274GAC[1] (p.Asp93del)
|
|
|
|
NM_000117.3(EMD):c.275A>G (p.Asp92Gly)
|
|
|
|
NM_000117.3(EMD):c.277G>T (p.Asp93Tyr)
|
|
|
|
NM_000117.3(EMD):c.27T>C (p.Asp9=)
|
|
|
|
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
|
|
|
|
NM_000117.3(EMD):c.284A>T (p.Tyr95Phe)
|
|
|
|
NM_000117.3(EMD):c.285T>C (p.Tyr95=)
|
rs2148128483
|
|
|
NM_000117.3(EMD):c.294C>T (p.Ser98=)
|
rs2148128485
|
|
|
NM_000117.3(EMD):c.2T>G (p.Met1Arg)
|
rs2148127941
|
|
|
NM_000117.3(EMD):c.302C>G (p.Thr101Ser)
|
|
|
|
NM_000117.3(EMD):c.303C>T (p.Thr101=)
|
|
|
|
NM_000117.3(EMD):c.306C>A (p.Thr102=)
|
|
|
|
NM_000117.3(EMD):c.307A>G (p.Arg103Gly)
|
|
|
|
NM_000117.3(EMD):c.309G>A (p.Arg103=)
|
rs2148128497
|
|
|
NM_000117.3(EMD):c.30C>T (p.Thr10=)
|
|
|
|
NM_000117.3(EMD):c.311C>A (p.Thr104Asn)
|
rs1245332627
|
|
|
NM_000117.3(EMD):c.317G>A (p.Gly106Glu)
|
rs1312994862
|
|
|
NM_000117.3(EMD):c.31G>A (p.Glu11Lys)
|
rs2148127965
|
|
|
NM_000117.3(EMD):c.321G>A (p.Glu107=)
|
rs1452250882
|
|
|
NM_000117.3(EMD):c.321G>T (p.Glu107Asp)
|
|
|
|
NM_000117.3(EMD):c.325G>A (p.Glu109Lys)
|
|
|
|
NM_000117.3(EMD):c.327G>A (p.Glu109=)
|
|
|
|
NM_000117.3(EMD):c.32A>G (p.Glu11Gly)
|
|
|
|
NM_000117.3(EMD):c.330T>A (p.Ser110=)
|
rs782666989
|
|
|
NM_000117.3(EMD):c.330T>C (p.Ser110=)
|
rs782666989
|
|
|
NM_000117.3(EMD):c.334G>A (p.Gly112Ser)
|
|
|
|
NM_000117.3(EMD):c.339G>A (p.Pro113=)
|
rs2148128524
|
|
|
NM_000117.3(EMD):c.33G>A (p.Glu11=)
|
rs782121776
|
|
|
NM_000117.3(EMD):c.33G>C (p.Glu11Asp)
|
rs782121776
|
|
|
NM_000117.3(EMD):c.340T>C (p.Ser114Pro)
|
|
|
|
NM_000117.3(EMD):c.343A>T (p.Arg115Trp)
|
rs2067879939
|
|
|
NM_000117.3(EMD):c.345G>A (p.Arg115=)
|
|
|
|
NM_000117.3(EMD):c.350T>G (p.Val117Gly)
|
rs781924971
|
|
|
NM_000117.3(EMD):c.351C>T (p.Val117=)
|
rs2148128529
|
|
|
NM_000117.3(EMD):c.356A>G (p.Gln119Arg)
|
|
|
|
NM_000117.3(EMD):c.369A>G (p.Ser123=)
|
rs2148128541
|
|
|
NM_000117.3(EMD):c.377A>G (p.Asp126Gly)
|
|
|
|
NM_000117.3(EMD):c.37A>C (p.Thr13Pro)
|
rs2148127968
|
|
|
NM_000117.3(EMD):c.384C>T (p.Asp128=)
|
rs1603365838
|
|
|
NM_000117.3(EMD):c.391_397dup (p.Gln133fs)
|
|
|
|
NM_000117.3(EMD):c.393T>C (p.His131=)
|
|
|
|
NM_000117.3(EMD):c.397C>T (p.Gln133Ter)
|
|
|
|
NM_000117.3(EMD):c.399+16G>A
|
|
|
|
NM_000117.3(EMD):c.399+17G>T
|
|
|
|
NM_000117.3(EMD):c.399+18C>A
|
rs182540760
|
|
|
NM_000117.3(EMD):c.399+19G>A
|
|
|
|
NM_000117.3(EMD):c.399+19G>T
|
|
|
|
NM_000117.3(EMD):c.399+1G>T
|
rs2148128554
|
|
|
NM_000117.3(EMD):c.399+2T>C
|
|
|
|
NM_000117.3(EMD):c.399G>C (p.Gln133His)
|
|
|
|
NM_000117.3(EMD):c.39C>T (p.Thr13=)
|
rs1352660201
|
|
|
NM_000117.3(EMD):c.3G>A (p.Met1Ile)
|
rs886044771
|
|
|
NM_000117.3(EMD):c.400-11C>T
|
|
|
|
NM_000117.3(EMD):c.400-11_400-5dup
|
|
|
|
NM_000117.3(EMD):c.400-12T>A
|
|
|
|
NM_000117.3(EMD):c.400-13C>T
|
|
|
|
NM_000117.3(EMD):c.400-13CT[2]
|
rs1427015192
|
|
|
NM_000117.3(EMD):c.400-15G>A
|
|
|
|
NM_000117.3(EMD):c.400-15G>C
|
|
|
|
NM_000117.3(EMD):c.400-17C>G
|
|
|
|
NM_000117.3(EMD):c.400-3C>T
|
|
|
|
NM_000117.3(EMD):c.402G>C (p.Val134=)
|
rs2148128710
|
|
|
NM_000117.3(EMD):c.406G>A (p.Asp136Asn)
|
rs869025401
|
|
|
NM_000117.3(EMD):c.406del (p.Asp136fs)
|
rs2148128715
|
|
|
NM_000117.3(EMD):c.408T>C (p.Asp136=)
|
rs1569552096
|
|
|
NM_000117.3(EMD):c.409G>A (p.Asp137Asn)
|
|
|
|
NM_000117.3(EMD):c.409_414del (p.Asp137_Asp138del)
|
|
|
|
NM_000117.3(EMD):c.411C>G (p.Asp137Glu)
|
rs2148128718
|
|
|
NM_000117.3(EMD):c.411C>T (p.Asp137=)
|
rs2148128718
|
|
|
NM_000117.3(EMD):c.413A>G (p.Asp138Gly)
|
rs1212579575
|
|
|
NM_000117.3(EMD):c.415C>T (p.Leu139Phe)
|
|
|
|
NM_000117.3(EMD):c.41C>A (p.Thr14Asn)
|
|
|
|
NM_000117.3(EMD):c.421TCT[2] (p.Ser143del)
|
rs1557182551
|
|
|
NM_000117.3(EMD):c.425C>G (p.Ser142Cys)
|
|
|
|
NM_000117.3(EMD):c.425C>T (p.Ser142Phe)
|
rs2067882775
|
|
|
NM_000117.3(EMD):c.428_430del (p.Ser143_Glu144delinsTer)
|
|
|
|
NM_000117.3(EMD):c.430G>T (p.Glu144Ter)
|
rs1557182560
|
|
|
NM_000117.3(EMD):c.433G>A (p.Glu145Lys)
|
rs2067882908
|
|
|
NM_000117.3(EMD):c.437A>G (p.Glu146Gly)
|
rs2148128747
|
|
|
NM_000117.3(EMD):c.438G>A (p.Glu146=)
|
|
|
|
NM_000117.3(EMD):c.439_449+3del
|
|
|
|
NM_000117.3(EMD):c.441C>A (p.Cys147Ter)
|
|
|
|
NM_000117.3(EMD):c.442A>G (p.Lys148Glu)
|
|
|
|
NM_000117.3(EMD):c.447T>C (p.Asp149=)
|
|
|
|
NM_000117.3(EMD):c.448A>G (p.Arg150Gly)
|
|
|
|
NM_000117.3(EMD):c.449+10G>T
|
rs782467790
|
|
|
NM_000117.3(EMD):c.449+11G>C
|
|
|
|
NM_000117.3(EMD):c.449+11G>T
|
|
|
|
NM_000117.3(EMD):c.449+17C>G
|
|
|
|
NM_000117.3(EMD):c.449+18C>A
|
|
|
|
NM_000117.3(EMD):c.449+19C>G
|
|
|
|
NM_000117.3(EMD):c.449+1G>A
|
rs2148128756
|
|
|
NM_000117.3(EMD):c.449+20A>T
|
|
|
|
NM_000117.3(EMD):c.449+4C>T
|
rs886044810
|
|
|
NM_000117.3(EMD):c.449+7A>G
|
|
|
|
NM_000117.3(EMD):c.449G>A (p.Arg150Lys)
|
|
|
|
NM_000117.3(EMD):c.449G>C (p.Arg150Thr)
|
rs1557182571
|
|
|
NM_000117.3(EMD):c.450-11T>C
|
|
|
|
NM_000117.3(EMD):c.450-13T>G
|
rs375480222
|
|
|
NM_000117.3(EMD):c.450-14C>G
|
|
|
|
NM_000117.3(EMD):c.450-17C>G
|
|
|
|
NM_000117.3(EMD):c.450-17C>T
|
|
|
|
NM_000117.3(EMD):c.450-1G>A
|
|
|
|
NM_000117.3(EMD):c.450-2A>G
|
rs398123158
|
|
|
NM_000117.3(EMD):c.450-6C>T
|
|
|
|
NM_000117.3(EMD):c.450-8T>C
|
|
|
|
NM_000117.3(EMD):c.455G>A (p.Arg152His)
|
|
|
|
NM_000117.3(EMD):c.456C>T (p.Arg152=)
|
rs2148128787
|
|
|
NM_000117.3(EMD):c.457C>T (p.Pro153Ser)
|
|
|
|
NM_000117.3(EMD):c.459C>G (p.Pro153=)
|
rs782147479
|
|
|
NM_000117.3(EMD):c.460A>G (p.Met154Val)
|
rs782806462
|
|
|
NM_000117.3(EMD):c.466G>C (p.Gly156Arg)
|
rs144594695
|
|
|
NM_000117.3(EMD):c.46C>T (p.Leu16=)
|
rs2148127980
|
|
|
NM_000117.3(EMD):c.475_476del (p.Ser159fs)
|
rs2067883871
|
|
|
NM_000117.3(EMD):c.483C>G (p.Tyr161Ter)
|
rs2148128811
|
|
|
NM_000117.3(EMD):c.484C>T (p.Gln162Ter)
|
rs1557182611
|
|
|
NM_000117.3(EMD):c.487A>G (p.Ser163Gly)
|
rs1557182614
|
|
|
NM_000117.3(EMD):c.48G>T (p.Leu16=)
|
|
|
|
NM_000117.3(EMD):c.490A>C (p.Ile164Leu)
|
rs2067884058
|
|
|
NM_000117.3(EMD):c.490A>G (p.Ile164Val)
|
|
|
|
NM_000117.3(EMD):c.495G>T (p.Thr165=)
|
rs151074632
|
|
|
NM_000117.3(EMD):c.497A>G (p.His166Arg)
|
rs1016943599
|
|
|
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)
|
rs2067884177
|
|
|
NM_000117.3(EMD):c.503G>A (p.Arg168His)
|
rs898460509
|
|
|
NM_000117.3(EMD):c.503G>T (p.Arg168Leu)
|
|
|
|
NM_000117.3(EMD):c.506_507del (p.Pro169fs)
|
rs1422834817
|
|
|
NM_000117.3(EMD):c.510T>C (p.Val170=)
|
rs2148128835
|
|
|
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)
|
rs886044901
|
|
|
NM_000117.3(EMD):c.512C>G (p.Ser171Ter)
|
|
|
|
NM_000117.3(EMD):c.516C>T (p.Ala172=)
|
|
|
|
NM_000117.3(EMD):c.51C>T (p.Arg17=)
|
|
|
|
NM_000117.3(EMD):c.520A>C (p.Arg174=)
|
|
|
|
NM_000117.3(EMD):c.524G>A (p.Ser175Asn)
|
|
|
|
NM_000117.3(EMD):c.525C>G (p.Ser175Arg)
|
rs782367505
|
|
|
NM_000117.3(EMD):c.527C>T (p.Ser176Phe)
|
|
|
|
NM_000117.3(EMD):c.529C>T (p.Leu177=)
|
|
|
|
NM_000117.3(EMD):c.52C>A (p.Arg18=)
|
rs2148127991
|
|
|
NM_000117.3(EMD):c.533A>G (p.Asp178Gly)
|
rs2067884448
|
|
|
NM_000117.3(EMD):c.534C>A (p.Asp178Glu)
|
|
|
|
NM_000117.3(EMD):c.534C>T (p.Asp178=)
|
rs1430510939
|
|
|
NM_000117.3(EMD):c.535C>T (p.Leu179=)
|
rs1260147167
|
|
|
NM_000117.3(EMD):c.543T>C (p.Tyr181=)
|
|
|
|
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)
|
rs794729019
|
|
|
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)
|
|
|
|
NM_000117.3(EMD):c.547C>A (p.Pro183Thr)
|
rs104894806
|
|
|
NM_000117.3(EMD):c.547C>T (p.Pro183Ser)
|
rs104894806
|
|
|
NM_000117.3(EMD):c.548C>A (p.Pro183His)
|
rs104894805
|
|
|
NM_000117.3(EMD):c.548C>T (p.Pro183Leu)
|
rs104894805
|
|
|
NM_000117.3(EMD):c.549T>C (p.Pro183=)
|
rs886044848
|
|
|
NM_000117.3(EMD):c.550_552del (p.Thr184del)
|
|
|
|
NM_000117.3(EMD):c.551C>T (p.Thr184Ile)
|
|
|
|
NM_000117.3(EMD):c.553T>C (p.Ser185Pro)
|
|
|
|
NM_000117.3(EMD):c.555C>T (p.Ser185=)
|
|
|
|
NM_000117.3(EMD):c.558C>T (p.Ser186=)
|
rs2148128859
|
|
|
NM_000117.3(EMD):c.561C>T (p.Ser187=)
|
|
|
|
NM_000117.3(EMD):c.561_567dup (p.Phe190fs)
|
rs2148128862
|
|
|
NM_000117.3(EMD):c.563C>A (p.Thr188Asn)
|
|
|
|
NM_000117.3(EMD):c.570del (p.Phe190fs)
|
rs2148128871
|
|
|
NM_000117.3(EMD):c.570dup (p.Met191fs)
|
rs2148128871
|
|
|
NM_000117.3(EMD):c.571A>G (p.Met191Val)
|
rs397515752
|
|
|
NM_000117.3(EMD):c.576C>G (p.Ser192=)
|
|
|
|
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del)
|
rs2067884874
|
|
|
NM_000117.3(EMD):c.578C>T (p.Ser193Phe)
|
rs1220835396
|
|
|
NM_000117.3(EMD):c.579C>A (p.Ser193=)
|
rs781952637
|
|
|
NM_000117.3(EMD):c.581C>G (p.Ser194Ter)
|
|
|
|
NM_000117.3(EMD):c.581_582del (p.Ser194fs)
|
rs1557182654
|
|
|
NM_000117.3(EMD):c.582A>G (p.Ser194=)
|
rs781933286
|
|
|
NM_000117.3(EMD):c.587C>G (p.Ser196Cys)
|
|
|
|
NM_000117.3(EMD):c.587C>T (p.Ser196Phe)
|
rs781900414
|
|
|
NM_000117.3(EMD):c.591C>G (p.Ser197=)
|
rs1227767189
|
|
|
NM_000117.3(EMD):c.591C>T (p.Ser197=)
|
rs1227767189
|
|
|
NM_000117.3(EMD):c.596C>T (p.Ser199Leu)
|
|
|
|
NM_000117.3(EMD):c.599G>T (p.Trp200Leu)
|
|
|
|
NM_000117.3(EMD):c.59A>G (p.Asn20Ser)
|
|
|
|
NM_000117.3(EMD):c.600G>A (p.Trp200Ter)
|
rs1557182661
|
|
|
NM_000117.3(EMD):c.607del (p.Arg203fs)
|
rs1569552106
|
|
|
NM_000117.3(EMD):c.60del (p.Asn20fs)
|
rs886041854
|
|
|
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)
|
rs782299893
|
|
|
NM_000117.3(EMD):c.615del (p.Ile206fs)
|
rs2148128932
|
|
|
NM_000117.3(EMD):c.618C>G (p.Ile206Met)
|
rs782496874
|
|
|
NM_000117.3(EMD):c.619del (p.Arg207fs)
|
rs2067885544
|
|
|
NM_000117.3(EMD):c.620G>C (p.Arg207Pro)
|
rs782352489
|
|
|
NM_000117.3(EMD):c.621G>C (p.Arg207=)
|
|
|
|
NM_000117.3(EMD):c.621del (p.Pro208fs)
|
rs1557182670
|
|
|
NM_000117.3(EMD):c.623C>G (p.Pro208Arg)
|
rs987808355
|
|
|
NM_000117.3(EMD):c.631C>G (p.Arg211Gly)
|
rs782193940
|
|
|
NM_000117.3(EMD):c.631del (p.Arg211fs)
|
rs2148128957
|
|
|
NM_000117.3(EMD):c.639T>G (p.Pro213=)
|
|
|
|
NM_000117.3(EMD):c.63C>T (p.Ile21=)
|
|
|
|
NM_000117.3(EMD):c.640_644dup (p.Gln219fs)
|
rs1557182676
|
|
|
NM_000117.3(EMD):c.641G>C (p.Gly214Ala)
|
rs2148128967
|
|
|
NM_000117.3(EMD):c.643_653dup (p.Gln219fs)
|
rs2148128961
|
|
|
NM_000117.3(EMD):c.643del (p.Ala215fs)
|
|
|
|
NM_000117.3(EMD):c.650_654del (p.Leu217fs)
|
rs730880352
|
|
|
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)
|
rs730880352
|
|
|
NM_000117.3(EMD):c.651G>A (p.Leu217=)
|
rs2067885915
|
|
|
NM_000117.3(EMD):c.651_655dup (p.Gln219fs)
|
|
|
|
NM_000117.3(EMD):c.656A>G (p.Gln219Arg)
|
|
|
|
NM_000117.3(EMD):c.65C>T (p.Pro22Leu)
|
rs794729017
|
|
|
NM_000117.3(EMD):c.662G>A (p.Arg221His)
|
rs782057378
|
|
|
NM_000117.3(EMD):c.662_663insT (p.Gln222fs)
|
|
|
|
NM_000117.3(EMD):c.663C>T (p.Arg221=)
|
|
|
|
NM_000117.3(EMD):c.666G>C (p.Gln222His)
|
|
|
|
NM_000117.3(EMD):c.667G>A (p.Val223Ile)
|
|
|
|
NM_000117.3(EMD):c.669C>T (p.Val223=)
|
|
|
|
NM_000117.3(EMD):c.66G>A (p.Pro22=)
|
|
|
|
NM_000117.3(EMD):c.66G>T (p.Pro22=)
|
|
|
|
NM_000117.3(EMD):c.670C>T (p.Pro224Ser)
|
rs1557182687
|
|
|
NM_000117.3(EMD):c.671C>G (p.Pro224Arg)
|
|
|
|
NM_000117.3(EMD):c.672G>C (p.Pro224=)
|
|
|
|
NM_000117.3(EMD):c.674_678del (p.Leu225fs)
|
rs1557182692
|
|
|
NM_000117.3(EMD):c.674del (p.Leu225fs)
|
|
|
|
NM_000117.3(EMD):c.676_677del (p.Trp226fs)
|
|
|
|
NM_000117.3(EMD):c.680_684del (p.Gly227fs)
|
rs2148128987
|
|
|
NM_000117.3(EMD):c.681C>A (p.Gly227=)
|
|
|
|
NM_000117.3(EMD):c.683A>G (p.Gln228Arg)
|
|
|
|
NM_000117.3(EMD):c.684GCT[2] (p.Leu231del)
|
rs2067886222
|
|
|
NM_000117.3(EMD):c.688C>T (p.Leu230=)
|
rs980424914
|
|
|
NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro)
|
rs2067873549
|
|
|
NM_000117.3(EMD):c.697C>T (p.Leu233=)
|
rs1603366026
|
|
|
NM_000117.3(EMD):c.69C>G (p.His23Gln)
|
|
|
|
NM_000117.3(EMD):c.69C>T (p.His23=)
|
|
|
|
NM_000117.3(EMD):c.706G>A (p.Val236Met)
|
|
|
|
NM_000117.3(EMD):c.709A>G (p.Ile237Val)
|
rs2148129009
|
|
|
NM_000117.3(EMD):c.70G>A (p.Gly24Arg)
|
rs727504628
|
|
|
NM_000117.3(EMD):c.70G>C (p.Gly24Arg)
|
|
|
|
NM_000117.3(EMD):c.712G>A (p.Val238Ile)
|
rs782455914
|
|
|
NM_000117.3(EMD):c.715C>T (p.Leu239Phe)
|
rs2067886585
|
|
|
NM_000117.3(EMD):c.717_718del (p.Phe240fs)
|
rs1603366041
|
|
|
NM_000117.3(EMD):c.718T>C (p.Phe240Leu)
|
|
|
|
NM_000117.3(EMD):c.718TTC[1] (p.Phe241del)
|
rs2148129019
|
|
|
NM_000117.3(EMD):c.71G>T (p.Gly24Val)
|
|
|
|
NM_000117.3(EMD):c.720C>T (p.Phe240=)
|
rs2067886666
|
|
|
NM_000117.3(EMD):c.723C>T (p.Phe241=)
|
|
|
|
NM_000117.3(EMD):c.725T>G (p.Ile242Ser)
|
rs2067886717
|
|
|
NM_000117.3(EMD):c.730C>T (p.His244Tyr)
|
rs2067886772
|
|
|
NM_000117.3(EMD):c.736A>T (p.Met246Leu)
|
|
|
|
NM_000117.3(EMD):c.73C>A (p.Pro25Thr)
|
rs876661346
|
|
|
NM_000117.3(EMD):c.740_743del (p.Gln247fs)
|
|
|
|
NM_000117.3(EMD):c.741G>A (p.Gln247=)
|
|
|
|
NM_000117.3(EMD):c.74C>G (p.Pro25Arg)
|
rs2067873634
|
|
|
NM_000117.3(EMD):c.74C>T (p.Pro25Leu)
|
rs2067873634
|
|
|
NM_000117.3(EMD):c.752G>A (p.Gly251Asp)
|
|
|
|
NM_000117.3(EMD):c.753C>T (p.Gly251=)
|
|
|
|
NM_000117.3(EMD):c.762C>G (p.Phe254Leu)
|
|
|
|
NM_000117.3(EMD):c.762C>T (p.Phe254=)
|
rs1603366051
|
|
|
NM_000117.3(EMD):c.77T>C (p.Val26Ala)
|
rs727505029
|
|
|
NM_000117.3(EMD):c.77dup (p.Val27fs)
|
rs2067873691
|
|
|
NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)
|
|
|
|
NM_000117.3(EMD):c.82+10G>A
|
|
|
|
NM_000117.3(EMD):c.82+12C>T
|
|
|
|
NM_000117.3(EMD):c.82+19G>C
|
|
|
|
NM_000117.3(EMD):c.82+1G>A
|
rs1557182214
|
|
|
NM_000117.3(EMD):c.82+1G>T
|
rs1557182214
|
|
|
NM_000117.3(EMD):c.82+20A>C
|
|
|
|
NM_000117.3(EMD):c.82+3A>G
|
|
|
|
NM_000117.3(EMD):c.82+4C>A
|
rs376569563
|
|
|
NM_000117.3(EMD):c.82+4C>T
|
|
|
|
NM_000117.3(EMD):c.82+8G>A
|
|
|
|
NM_000117.3(EMD):c.82G>A (p.Gly28Arg)
|
rs1064797380
|
|
|
NM_000117.3(EMD):c.82G>C (p.Gly28Arg)
|
rs1064797380
|
|
|
NM_000117.3(EMD):c.83-12G>A
|
|
|
|
NM_000117.3(EMD):c.83-13C>T
|
|
|
|
NM_000117.3(EMD):c.83-16C>T
|
|
|
|
NM_000117.3(EMD):c.83-17G>A
|
rs782637320
|
|
|
NM_000117.3(EMD):c.83-2A>C
|
rs727504901
|
|
|
NM_000117.3(EMD):c.83-3C>T
|
|
|
|
NM_000117.3(EMD):c.83-6G>A
|
|
|
|
NM_000117.3(EMD):c.83-7C>T
|
|
|
|
NM_000117.3(EMD):c.83-9T>C
|
|
|
|
NM_000117.3(EMD):c.83G>A (p.Gly28Glu)
|
rs781978021
|
|
|
NM_000117.3(EMD):c.85T>C (p.Ser29Pro)
|
rs2067874763
|
|
|
NM_000117.3(EMD):c.86C>T (p.Ser29Leu)
|
|
|
|
NM_000117.3(EMD):c.87A>G (p.Ser29=)
|
|
|
|
NM_000117.3(EMD):c.92G>C (p.Arg31Pro)
|
|
|
|
NM_000117.3(EMD):c.92G>T (p.Arg31Leu)
|
rs2148128120
|
|
|
NM_000117.3(EMD):c.95G>C (p.Arg32Thr)
|
|
|
|
NM_000117.3(EMD):c.96G>A (p.Arg32=)
|
|
|
|
NM_000117.3(EMD):c.9C>G (p.Asn3Lys)
|
|
|
|
NM_000117.3(EMD):c.9C>T (p.Asn3=)
|
|
|
|
NM_000117.3:c.55_83del
|
|
|
|
NM_000257.4(MYH7):c.-39C>A
|
rs886050424
|
|
|
NM_000257.4(MYH7):c.-47G>T
|
rs886050425
|
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
|
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)
|
rs397516089
|
|
|
NM_000257.4(MYH7):c.1138+7G>A
|
rs886050423
|
|
|
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)
|
rs727504753
|
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
|
NM_000257.4(MYH7):c.1287G>C (p.Lys429Asn)
|
|
|
|
NM_000257.4(MYH7):c.1432A>G (p.Ile478Val)
|
rs730880873
|
|
|
NM_000257.4(MYH7):c.1482T>G (p.Phe494Leu)
|
|
|
|
NM_000257.4(MYH7):c.1495GAG[1] (p.Glu500del)
|
rs1555338254
|
|
|
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)
|
rs863224900
|
|
|
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)
|
rs606231324
|
|
|
NM_000257.4(MYH7):c.1671G>T (p.Leu557=)
|
rs149386750
|
|
|
NM_000257.4(MYH7):c.1755C>A (p.Ile585=)
|
rs201860580
|
|
|
NM_000257.4(MYH7):c.1888C>A (p.Pro630Thr)
|
rs397516124
|
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
|
NM_000257.4(MYH7):c.2053del (p.Asp685fs)
|
rs1566532860
|
|
|
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)
|
rs121913632
|
|
|
NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr)
|
rs769396106
|
|
|
NM_000257.4(MYH7):c.2335G>A (p.Glu779Lys)
|
rs1427104281
|
|
|
NM_000257.4(MYH7):c.2424-7C>T
|
rs759141144
|
|
|
NM_000257.4(MYH7):c.2551T>A (p.Ser851Thr)
|
rs2138665874
|
|
|
NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly)
|
rs1236517740
|
|
|
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)
|
rs730880749
|
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
|
NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr)
|
rs1566530777
|
|
|
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)
|
rs121913628
|
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
|
NM_000257.4(MYH7):c.2819A>T (p.Lys940Met)
|
rs1892589863
|
|
|
NM_000257.4(MYH7):c.2843C>T (p.Ser948Leu)
|
rs1350140484
|
|
|
NM_000257.4(MYH7):c.2869C>A (p.Leu957Met)
|
|
|
|
NM_000257.4(MYH7):c.2877G>A (p.Leu959=)
|
rs886039162
|
|
|
NM_000257.4(MYH7):c.2923-6C>A
|
rs587781082
|
|
|
NM_000257.4(MYH7):c.292G>A (p.Glu98Lys)
|
rs1440846436
|
|
|
NM_000257.4(MYH7):c.2936C>G (p.Thr979Arg)
|
rs886050421
|
|
|
NM_000257.4(MYH7):c.2955G>A (p.Leu985=)
|
rs886050420
|
|
|
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr)
|
rs753137666
|
|
|
NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu)
|
rs1892572355
|
|
|
NM_000257.4(MYH7):c.3030T>G (p.Leu1010=)
|
rs747004925
|
|
|
NM_000257.4(MYH7):c.3107G>A (p.Gly1036Glu)
|
rs1000681552
|
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
|
NM_000257.4(MYH7):c.3137T>G (p.Met1046Arg)
|
rs763760498
|
|
|
NM_000257.4(MYH7):c.3148C>A (p.Arg1050=)
|
rs730880767
|
|
|
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=)
|
rs746453011
|
|
|
NM_000257.4(MYH7):c.3184A>T (p.Thr1062Ser)
|
rs1555337299
|
|
|
NM_000257.4(MYH7):c.3229G>T (p.Asp1077Tyr)
|
rs759256990
|
|
|
NM_000257.4(MYH7):c.3237G>C (p.Arg1079=)
|
rs1272236852
|
|
|
NM_000257.4(MYH7):c.3294G>T (p.Gln1098His)
|
rs375323916
|
|
|
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=)
|
rs933857323
|
|
|
NM_000257.4(MYH7):c.3337-2_3337delinsCAGA
|
rs1892420744
|
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
|
NM_000257.4(MYH7):c.3363G>C (p.Glu1121Asp)
|
rs886041113
|
|
|
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr)
|
rs730880833
|
|
|
NM_000257.4(MYH7):c.345+1G>A
|
rs112907315
|
|
|
NM_000257.4(MYH7):c.3460G>A (p.Gly1154Ser)
|
rs1211784451
|
|
|
NM_000257.4(MYH7):c.3558G>A (p.Glu1186=)
|
rs1415340981
|
|
|
NM_000257.4(MYH7):c.3620T>A (p.Ile1207Asn)
|
rs730880780
|
|
|
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=)
|
rs529700838
|
|
|
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)
|
rs794727410
|
|
|
NM_000257.4(MYH7):c.3711G>C (p.Gln1237His)
|
rs1361182615
|
|
|
NM_000257.4(MYH7):c.3721G>T (p.Ala1241Ser)
|
rs757538583
|
|
|
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)
|
rs574005462
|
|
|
NM_000257.4(MYH7):c.3789G>T (p.Ala1263=)
|
rs137918672
|
|
|
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro)
|
rs397516195
|
|
|
NM_000257.4(MYH7):c.3934C>G (p.Leu1312Val)
|
rs886050419
|
|
|
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=)
|
rs921429381
|
|
|
NM_000257.4(MYH7):c.396G>T (p.Pro132=)
|
rs138932714
|
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
|
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp)
|
rs727504352
|
|
|
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp)
|
rs730880910
|
|
|
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe)
|
rs727504703
|
|
|
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys)
|
rs730880792
|
|
|
NM_000257.4(MYH7):c.4169+6T>G
|
rs886050417
|
|
|
NM_000257.4(MYH7):c.4187G>A (p.Arg1396Gln)
|
rs370069461
|
|
|
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)
|
rs200852418
|
|
|
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=)
|
rs763934978
|
|
|
NM_000257.4(MYH7):c.4285_4287del (p.Met1429del)
|
rs1892274161
|
|
|
NM_000257.4(MYH7):c.428G>C (p.Arg143Pro)
|
rs397516209
|
|
|
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=)
|
rs397516213
|
|
|
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=)
|
rs2138645345
|
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
|
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly)
|
rs879196018
|
|
|
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val)
|
rs1555336580
|
|
|
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val)
|
rs730880804
|
|
|
NM_000257.4(MYH7):c.4644+5G>C
|
rs730880797
|
|
|
NM_000257.4(MYH7):c.4691A>C (p.Glu1564Ala)
|
|
|
|
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)
|
rs1595073523
|
|
|
NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro)
|
rs730880809
|
|
|
NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly)
|
rs1892196940
|
|
|
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys)
|
rs730880810
|
|
|
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln)
|
rs730880810
|
|
|
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val)
|
rs397516229
|
|
|
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)
|
rs545875689
|
|
|
NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)
|
rs587779393
|
|
|
NM_000257.4(MYH7):c.4953+13A>T
|
rs373509029
|
|
|
NM_000257.4(MYH7):c.4953+4C>T
|
rs933520031
|
|
|
NM_000257.4(MYH7):c.4953+6C>A
|
rs1892187663
|
|
|
NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro)
|
rs1892176969
|
|
|
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu)
|
rs1006534868
|
|
|
NM_000257.4(MYH7):c.5087A>G (p.Glu1696Gly)
|
rs1892168471
|
|
|
NM_000257.4(MYH7):c.5158-16C>G
|
|
|
|
NM_000257.4(MYH7):c.5168T>C (p.Leu1723Pro)
|
|
|
|
NM_000257.4(MYH7):c.5173_5175del (p.Asn1725del)
|
|
|
|
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val)
|
rs397516240
|
|
|
NM_000257.4(MYH7):c.5208G>C (p.Gln1736His)
|
rs886050416
|
|
|
NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)
|
|
|
|
NM_000257.4(MYH7):c.5361A>C (p.Glu1787Asp)
|
|
|
|
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)
|
rs121913654
|
|
|
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)
|
rs777053791
|
|
|
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)
|
rs397516248
|
|
|
NM_000257.4(MYH7):c.5458C>G (p.Arg1820Gly)
|
rs145734640
|
|
|
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)
|
rs145734640
|
|
|
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)
|
rs1595071680
|
|
|
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr)
|
rs886050415
|
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
|
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=)
|
rs28933098
|
|
|
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)
|
rs28933098
|
|
|
NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys)
|
rs1057522617
|
|
|
NM_000257.4(MYH7):c.5655+1G>A
|
|
|
|
NM_000257.4(MYH7):c.5655+1G>C
|
rs1892079951
|
|
|
NM_000257.4(MYH7):c.5655+4A>T
|
|
|
|
NM_000257.4(MYH7):c.5655+5G>A
|
rs1595070689
|
|
|
NM_000257.4(MYH7):c.5672C>T (p.Thr1891Ile)
|
rs2138635423
|
|
|
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His)
|
rs727503240
|
|
|
NM_000257.4(MYH7):c.5702A>T (p.His1901Leu)
|
rs121913649
|
|
|
NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp)
|
rs146796870
|
|
|
NM_000257.4(MYH7):c.5793C>T (p.Gly1931=)
|
rs148420672
|
|
|
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp)
|
rs367543053
|
|
|
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)
|
rs878853840
|
|
|
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu)
|
rs779190577
|
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
|
NM_000257.4(MYH7):c.732+1del
|
rs397516266
|
|
|
NM_000257.4(MYH7):c.745C>G (p.Arg249Gly)
|
rs730880852
|
|
|
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter)
|
rs730880852
|
|
|
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)
|
rs3218713
|
|
|
NM_000257.4(MYH7):c.80A>G (p.Gln27Arg)
|
rs878853843
|
|
|
NM_000257.4(MYH7):c.895+12C>A
|
rs186276057
|
|
|
NM_000257.4(MYH7):c.899T>C (p.Met300Thr)
|
rs1892892787
|
|
|
NM_000257.4(MYH7):c.936C>A (p.Phe312Leu)
|
rs771522982
|
|
|
NM_000257.4(MYH7):c.976G>A (p.Ala326Thr)
|
rs372731424
|
|
|
NM_000257.4(MYH7):c.985C>T (p.Leu329Phe)
|
rs1566536367
|
|
|
NM_000257.4(MYH7):c.9T>G (p.Asp3Glu)
|
rs1893043424
|
|
|
NM_001130965.3(SUN1):c.1010A>C (p.Asp337Ala)
|
|
|
|
NM_001130965.3(SUN1):c.1012G>A (p.Val338Met)
|
|
|
|
NM_001130965.3(SUN1):c.1024A>G (p.Thr342Ala)
|
rs1584895416
|
|
|
NM_001130965.3(SUN1):c.1028C>T (p.Thr343Ile)
|
rs1006896977
|
|
|
NM_001130965.3(SUN1):c.1033C>T (p.Arg345Cys)
|
|
|
|
NM_001130965.3(SUN1):c.1042C>A (p.Gln348Lys)
|
|
|
|
NM_001130965.3(SUN1):c.1053+17del
|
|
|
|
NM_001130965.3(SUN1):c.1053+7G>A
|
rs2128396512
|
|
|
NM_001130965.3(SUN1):c.1062T>C (p.Ser354=)
|
|
|
|
NM_001130965.3(SUN1):c.1068T>A (p.Ala356=)
|
rs2128400415
|
|
|
NM_001130965.3(SUN1):c.1074G>A (p.Pro358=)
|
|
|
|
NM_001130965.3(SUN1):c.1080T>C (p.His360=)
|
rs1554263560
|
|
|
NM_001130965.3(SUN1):c.1085T>C (p.Met362Thr)
|
|
|
|
NM_001130965.3(SUN1):c.1091G>A (p.Gly364Asp)
|
|
|
|
NM_001130965.3(SUN1):c.1095G>A (p.Val365=)
|
|
|
|
NM_001130965.3(SUN1):c.1104G>A (p.Gln368=)
|
rs1279863264
|
|
|
NM_001130965.3(SUN1):c.1106T>C (p.Val369Ala)
|
|
|
|
NM_001130965.3(SUN1):c.1109C>T (p.Ala370Val)
|
|
|
|
NM_001130965.3(SUN1):c.1116G>A (p.Leu372=)
|
|
|
|
NM_001130965.3(SUN1):c.1123C>G (p.Gln375Glu)
|
rs1824133471
|
|
|
NM_001130965.3(SUN1):c.1123C>T (p.Gln375Ter)
|
|
|
|
NM_001130965.3(SUN1):c.1124A>G (p.Gln375Arg)
|
|
|
|
NM_001130965.3(SUN1):c.1127G>A (p.Cys376Tyr)
|
|
|
|
NM_001130965.3(SUN1):c.1136A>G (p.His379Arg)
|
|
|
|
NM_001130965.3(SUN1):c.1151G>A (p.Arg384Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1160C>A (p.Thr387Asn)
|
|
|
|
NM_001130965.3(SUN1):c.117G>A (p.Glu39=)
|
|
|
|
NM_001130965.3(SUN1):c.1187G>A (p.Arg396Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1205G>A (p.Gly402Asp)
|
rs1554263579
|
|
|
NM_001130965.3(SUN1):c.1207G>A (p.Gly403Ser)
|
|
|
|
NM_001130965.3(SUN1):c.120C>G (p.His40Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1215C>T (p.Ala405=)
|
|
|
|
NM_001130965.3(SUN1):c.1220_1263+16del
|
rs2128401073
|
|
|
NM_001130965.3(SUN1):c.1228T>G (p.Ser410Ala)
|
rs770565376
|
|
|
NM_001130965.3(SUN1):c.1230G>T (p.Ser410=)
|
|
|
|
NM_001130965.3(SUN1):c.124T>C (p.Leu42=)
|
|
|
|
NM_001130965.3(SUN1):c.1251G>A (p.Gln417=)
|
|
|
|
NM_001130965.3(SUN1):c.1257G>A (p.Pro419=)
|
rs370495368
|
|
|
NM_001130965.3(SUN1):c.1263+4G>A
|
|
|
|
NM_001130965.3(SUN1):c.1263+4G>C
|
|
|
|
NM_001130965.3(SUN1):c.1265C>G (p.Thr422Ser)
|
|
|
|
NM_001130965.3(SUN1):c.1272T>C (p.Phe424=)
|
|
|
|
NM_001130965.3(SUN1):c.1275G>T (p.Met425Ile)
|
rs1584946287
|
|
|
NM_001130965.3(SUN1):c.1290A>G (p.Glu430=)
|
|
|
|
NM_001130965.3(SUN1):c.129C>T (p.Asp43=)
|
|
|
|
NM_001130965.3(SUN1):c.1300C>T (p.Arg434Cys)
|
|
|
|
NM_001130965.3(SUN1):c.132T>A (p.Pro44=)
|
rs551076611
|
|
|
NM_001130965.3(SUN1):c.1330A>G (p.Lys444Glu)
|
|
|
|
NM_001130965.3(SUN1):c.1350+13G>C
|
rs368425106
|
|
|
NM_001130965.3(SUN1):c.1350+15C>G
|
rs141644029
|
|
|
NM_001130965.3(SUN1):c.1350+15C>T
|
rs141644029
|
|
|
NM_001130965.3(SUN1):c.1351-11A>G
|
|
|
|
NM_001130965.3(SUN1):c.1351-12C>G
|
|
|
|
NM_001130965.3(SUN1):c.1351-12C>T
|
rs1342294473
|
|
|
NM_001130965.3(SUN1):c.1358A>G (p.Gln453Arg)
|
|
|
|
NM_001130965.3(SUN1):c.1394+20_1394+21del
|
|
|
|
NM_001130965.3(SUN1):c.1395-14C>T
|
|
|
|
NM_001130965.3(SUN1):c.1395-18C>G
|
rs901766935
|
|
|
NM_001130965.3(SUN1):c.1395-8dup
|
rs767286803
|
|
|
NM_001130965.3(SUN1):c.1410G>C (p.Gln470His)
|
|
|
|
NM_001130965.3(SUN1):c.1416G>A (p.Leu472=)
|
|
|
|
NM_001130965.3(SUN1):c.1420A>G (p.Thr474Ala)
|
rs781596220
|
|
|
NM_001130965.3(SUN1):c.1425_1426delinsGA (p.Glu476Lys)
|
rs2128441763
|
|
|
NM_001130965.3(SUN1):c.1435C>G (p.Gln479Glu)
|
|
|
|
NM_001130965.3(SUN1):c.1438C>G (p.Leu480Val)
|
|
|
|
NM_001130965.3(SUN1):c.1440G>A (p.Leu480=)
|
rs1585023977
|
|
|
NM_001130965.3(SUN1):c.1452G>A (p.Gln484=)
|
rs769379867
|
|
|
NM_001130965.3(SUN1):c.1465C>G (p.Leu489Val)
|
|
|
|
NM_001130965.3(SUN1):c.1478G>A (p.Arg493Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1490C>T (p.Thr497Ile)
|
|
|
|
NM_001130965.3(SUN1):c.1491C>G (p.Thr497=)
|
rs756560984
|
|
|
NM_001130965.3(SUN1):c.1491C>T (p.Thr497=)
|
|
|
|
NM_001130965.3(SUN1):c.1492G>A (p.Gly498Ser)
|
|
|
|
NM_001130965.3(SUN1):c.1496G>A (p.Cys499Tyr)
|
|
|
|
NM_001130965.3(SUN1):c.149G>A (p.Arg50Gln)
|
|
|
|
NM_001130965.3(SUN1):c.14G>A (p.Arg5Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1505T>C (p.Val502Ala)
|
rs1829005584
|
|
|
NM_001130965.3(SUN1):c.1512C>A (p.Ala504=)
|
rs748209663
|
|
|
NM_001130965.3(SUN1):c.1517A>G (p.Gln506Arg)
|
|
|
|
NM_001130965.3(SUN1):c.1519G>C (p.Glu507Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1524A>T (p.Arg508Ser)
|
|
|
|
NM_001130965.3(SUN1):c.1525-6T>C
|
rs1831067148
|
|
|
NM_001130965.3(SUN1):c.1530C>A (p.Asp510Glu)
|
rs369720300
|
|
|
NM_001130965.3(SUN1):c.1530C>T (p.Asp510=)
|
rs369720300
|
|
|
NM_001130965.3(SUN1):c.1546A>G (p.Met516Val)
|
|
|
|
NM_001130965.3(SUN1):c.1549G>A (p.Val517Met)
|
|
|
|
NM_001130965.3(SUN1):c.1561T>G (p.Phe521Val)
|
rs1366892549
|
|
|
NM_001130965.3(SUN1):c.1566C>T (p.Ser522=)
|
|
|
|
NM_001130965.3(SUN1):c.1575G>A (p.Gln525=)
|
|
|
|
NM_001130965.3(SUN1):c.1577A>G (p.Gln526Arg)
|
|
|
|
NM_001130965.3(SUN1):c.157C>T (p.Arg53Cys)
|
|
|
|
NM_001130965.3(SUN1):c.1581C>T (p.Gly527=)
|
|
|
|
NM_001130965.3(SUN1):c.1582G>C (p.Gly528Arg)
|
rs549897796
|
|
|
NM_001130965.3(SUN1):c.1587T>C (p.Ser529=)
|
rs1033833962
|
|
|
NM_001130965.3(SUN1):c.1595A>G (p.Gln532Arg)
|
|
|
|
NM_001130965.3(SUN1):c.1598T>A (p.Leu533Gln)
|
|
|
|
NM_001130965.3(SUN1):c.160C>T (p.Arg54Cys)
|
|
|
|
NM_001130965.3(SUN1):c.1612T>A (p.Ser538Thr)
|
|
|
|
NM_001130965.3(SUN1):c.1612T>C (p.Ser538Pro)
|
|
|
|
NM_001130965.3(SUN1):c.1613C>T (p.Ser538Leu)
|
rs984369757
|
|
|
NM_001130965.3(SUN1):c.161G>A (p.Arg54His)
|
rs772100423
|
|
|
NM_001130965.3(SUN1):c.1636G>A (p.Asp546Asn)
|
|
|
|
NM_001130965.3(SUN1):c.1655G>A (p.Arg552Gln)
|
|
|
|
NM_001130965.3(SUN1):c.1659C>G (p.Asp553Glu)
|
rs752578715
|
|
|
NM_001130965.3(SUN1):c.1666C>A (p.Leu556Met)
|
rs777583914
|
|
|
NM_001130965.3(SUN1):c.1674C>T (p.Ile558=)
|
|
|
|
NM_001130965.3(SUN1):c.1675C>T (p.Leu559=)
|
|
|
|
NM_001130965.3(SUN1):c.1684G>A (p.Val562Ile)
|
rs749673318
|
|
|
NM_001130965.3(SUN1):c.1691A>G (p.His564Arg)
|
|
|
|
NM_001130965.3(SUN1):c.1693C>A (p.His565Asn)
|
rs1421142069
|
|
|
NM_001130965.3(SUN1):c.1695C>T (p.His565=)
|
|
|
|
NM_001130965.3(SUN1):c.169C>T (p.Arg57Cys)
|
|
|
|
NM_001130965.3(SUN1):c.1700C>G (p.Ser567Cys)
|
|
|
|
NM_001130965.3(SUN1):c.1701C>T (p.Ser567=)
|
|
|
|
NM_001130965.3(SUN1):c.1702G>A (p.Val568Met)
|
|
|
|
NM_001130965.3(SUN1):c.170G>A (p.Arg57His)
|
|
|
|
NM_001130965.3(SUN1):c.1715T>C (p.Leu572Pro)
|
|
|
|
NM_001130965.3(SUN1):c.1716C>T (p.Leu572=)
|
|
|
|
NM_001130965.3(SUN1):c.1732G>A (p.Val578Met)
|
rs201804636
|
|
|
NM_001130965.3(SUN1):c.1737G>A (p.Val579=)
|
|
|
|
NM_001130965.3(SUN1):c.174G>C (p.Leu58=)
|
rs776352769
|
|
|
NM_001130965.3(SUN1):c.1750G>A (p.Glu584Lys)
|
|
|
|
NM_001130965.3(SUN1):c.1753G>A (p.Ala585Thr)
|
|
|
|
NM_001130965.3(SUN1):c.1777G>T (p.Ala593Ser)
|
rs952938105
|
|
|
NM_001130965.3(SUN1):c.1778C>T (p.Ala593Val)
|
|
|
|
NM_001130965.3(SUN1):c.1779+15C>T
|
|
|
|
NM_001130965.3(SUN1):c.1779+18C>T
|
|
|
|
NM_001130965.3(SUN1):c.1779+3GAGTCGGC[3]
|
|
|
|
NM_001130965.3(SUN1):c.1779+7C>T
|
rs775564962
|
|
|
NM_001130965.3(SUN1):c.1779+8G>A
|
|
|
|
NM_001130965.3(SUN1):c.1779+8G>T
|
|
|
|
NM_001130965.3(SUN1):c.177C>T (p.Ala59=)
|
rs745467961
|
|
|
NM_001130965.3(SUN1):c.1780-12G>A
|
|
|
|
NM_001130965.3(SUN1):c.1780-19G>A
|
|
|
|
NM_001130965.3(SUN1):c.1780-20C>T
|
|
|
|
NM_001130965.3(SUN1):c.1803C>T (p.Ser601=)
|
|
|
|
NM_001130965.3(SUN1):c.1818T>C (p.Tyr606=)
|
|
|
|
NM_001130965.3(SUN1):c.1833C>T (p.Thr611=)
|
rs774347766
|
|
|
NM_001130965.3(SUN1):c.1837A>G (p.Met613Val)
|
|
|
|
NM_001130965.3(SUN1):c.185C>T (p.Ala62Val)
|
|
|
|
NM_001130965.3(SUN1):c.1863T>G (p.Gly621=)
|
|
|
|
NM_001130965.3(SUN1):c.1864+14C>A
|
|
|
|
NM_001130965.3(SUN1):c.1864+14C>T
|
rs369041055
|
|
|
NM_001130965.3(SUN1):c.1869C>T (p.Gly623=)
|
|
|
|
NM_001130965.3(SUN1):c.1902C>G (p.Tyr634Ter)
|
|
|
|
NM_001130965.3(SUN1):c.1906A>G (p.Thr636Ala)
|
rs201361158
|
|
|
NM_001130965.3(SUN1):c.1913C>A (p.Thr638Lys)
|
|
|
|
NM_001130965.3(SUN1):c.1913C>T (p.Thr638Met)
|
rs539468692
|
|
|
NM_001130965.3(SUN1):c.191C>A (p.Thr64Asn)
|
|
|
|
NM_001130965.3(SUN1):c.1932del (p.Phe644fs)
|
|
|
|
NM_001130965.3(SUN1):c.193C>T (p.Leu65=)
|
rs774353215
|
|
|
NM_001130965.3(SUN1):c.1956G>A (p.Ser652=)
|
|
|
|
NM_001130965.3(SUN1):c.1964C>T (p.Pro655Leu)
|
rs1193272206
|
|
|
NM_001130965.3(SUN1):c.1971G>C (p.Val657=)
|
|
|
|
NM_001130965.3(SUN1):c.1980+12C>T
|
|
|
|
NM_001130965.3(SUN1):c.1980+20C>A
|
|
|
|
NM_001130965.3(SUN1):c.1981-6C>A
|
rs766555403
|
|
|
NM_001130965.3(SUN1):c.19C>T (p.His7Tyr)
|
|
|
|
NM_001130965.3(SUN1):c.200A>T (p.Asp67Val)
|
rs371817690
|
|
|
NM_001130965.3(SUN1):c.2024del (p.Gln675fs)
|
|
|
|
NM_001130965.3(SUN1):c.2046C>T (p.Leu682=)
|
rs1334345429
|
|
|
NM_001130965.3(SUN1):c.2054T>A (p.Met685Lys)
|
rs1839819500
|
|
|
NM_001130965.3(SUN1):c.2057T>C (p.Ile686Thr)
|
|
|
|
NM_001130965.3(SUN1):c.2068G>A (p.Ala690Thr)
|
|
|
|
NM_001130965.3(SUN1):c.2079G>C (p.Leu693=)
|
|
|
|
NM_001130965.3(SUN1):c.2096C>T (p.Thr699Met)
|
|
|
|
NM_001130965.3(SUN1):c.2108C>G (p.Thr703Arg)
|
|
|
|
NM_001130965.3(SUN1):c.2119A>G (p.Ser707Gly)
|
rs373518804
|
|
|
NM_001130965.3(SUN1):c.2127C>T (p.Ala709=)
|
|
|
|
NM_001130965.3(SUN1):c.2146T>C (p.Tyr716His)
|
|
|
|
NM_001130965.3(SUN1):c.2148+16C>T
|
|
|
|
NM_001130965.3(SUN1):c.2148+9C>G
|
|
|
|
NM_001130965.3(SUN1):c.2149-15T>C
|
|
|
|
NM_001130965.3(SUN1):c.2155G>C (p.Glu719Gln)
|
|
|
|
NM_001130965.3(SUN1):c.2158A>G (p.Asn720Asp)
|
|
|
|
NM_001130965.3(SUN1):c.2161G>A (p.Glu721Lys)
|
|
|
|
NM_001130965.3(SUN1):c.2163G>C (p.Glu721Asp)
|
|
|
|
NM_001130965.3(SUN1):c.2168A>C (p.Gln723Pro)
|
|
|
|
NM_001130965.3(SUN1):c.2199G>T (p.Thr733=)
|
|
|
|
NM_001130965.3(SUN1):c.219C>T (p.Ala73=)
|
|
|
|
NM_001130965.3(SUN1):c.2205T>C (p.Asp735=)
|
|
|
|
NM_001130965.3(SUN1):c.2229G>C (p.Met743Ile)
|
|
|
|
NM_001130965.3(SUN1):c.2241+16G>A
|
|
|
|
NM_001130965.3(SUN1):c.2241+9T>C
|
rs2128602540
|
|
|
NM_001130965.3(SUN1):c.2241+9dup
|
|
|
|
NM_001130965.3(SUN1):c.2242-10T>C
|
|
|
|
NM_001130965.3(SUN1):c.2242-14del
|
rs760426388
|
|
|
NM_001130965.3(SUN1):c.2253C>T (p.Asp751=)
|
|
|
|
NM_001130965.3(SUN1):c.2265C>T (p.Phe755=)
|
|
|
|
NM_001130965.3(SUN1):c.2269A>G (p.Ile757Val)
|
|
|
|
NM_001130965.3(SUN1):c.226G>A (p.Gly76Ser)
|
rs114826023
|
|
|
NM_001130965.3(SUN1):c.2271A>G (p.Ile757Met)
|
rs1221855051
|
|
|
NM_001130965.3(SUN1):c.2277A>G (p.Glu759=)
|
|
|
|
NM_001130965.3(SUN1):c.2280_2281delinsAA (p.Leu760_Arg761=)
|
|
|
|
NM_001130965.3(SUN1):c.2295C>T (p.Asn765=)
|
rs1465729615
|
|
|
NM_001130965.3(SUN1):c.2320C>G (p.Leu774Val)
|
|
|
|
NM_001130965.3(SUN1):c.2331C>A (p.Phe777Leu)
|
|
|
|
NM_001130965.3(SUN1):c.240T>C (p.Ala80=)
|
|
|
|
NM_001130965.3(SUN1):c.241G>C (p.Val81Leu)
|
|
|
|
NM_001130965.3(SUN1):c.243C>T (p.Val81=)
|
rs774928207
|
|
|
NM_001130965.3(SUN1):c.251A>G (p.Lys84Arg)
|
|
|
|
NM_001130965.3(SUN1):c.254A>T (p.Asn85Ile)
|
|
|
|
NM_001130965.3(SUN1):c.257G>A (p.Arg86Gln)
|
rs375668872
|
|
|
NM_001130965.3(SUN1):c.258A>G (p.Arg86=)
|
|
|
|
NM_001130965.3(SUN1):c.261G>A (p.Ala87=)
|
|
|
|
NM_001130965.3(SUN1):c.266+19C>G
|
|
|
|
NM_001130965.3(SUN1):c.266+20C>T
|
|
|
|
NM_001130965.3(SUN1):c.267-10T>C
|
|
|
|
NM_001130965.3(SUN1):c.267-16T>G
|
rs2128296251
|
|
|
NM_001130965.3(SUN1):c.267-6del
|
rs747866078
|
|
|
NM_001130965.3(SUN1):c.267-9del
|
|
|
|
NM_001130965.3(SUN1):c.267-9dup
|
rs535135658
|
|
|
NM_001130965.3(SUN1):c.272C>G (p.Thr91Arg)
|
|
|
|
NM_001130965.3(SUN1):c.273A>G (p.Thr91=)
|
|
|
|
NM_001130965.3(SUN1):c.281G>T (p.Arg94Leu)
|
|
|
|
NM_001130965.3(SUN1):c.28A>G (p.Ser10Gly)
|
|
|
|
NM_001130965.3(SUN1):c.309T>C (p.Ser103=)
|
rs1810486661
|
|
|
NM_001130965.3(SUN1):c.318C>T (p.His106=)
|
|
|
|
NM_001130965.3(SUN1):c.326G>C (p.Arg109Thr)
|
rs778427452
|
|
|
NM_001130965.3(SUN1):c.336G>A (p.Thr112=)
|
|
|
|
NM_001130965.3(SUN1):c.355G>A (p.Gly119Ser)
|
|
|
|
NM_001130965.3(SUN1):c.357C>T (p.Gly119=)
|
|
|
|
NM_001130965.3(SUN1):c.361A>G (p.Thr121Ala)
|
|
|
|
NM_001130965.3(SUN1):c.369C>T (p.Ser123=)
|
|
|
|
NM_001130965.3(SUN1):c.385A>G (p.Thr129Ala)
|
rs2128296982
|
|
|
NM_001130965.3(SUN1):c.388C>T (p.Arg130Ter)
|
|
|
|
NM_001130965.3(SUN1):c.389G>T (p.Arg130Leu)
|
rs781471011
|
|
|
NM_001130965.3(SUN1):c.393G>C (p.Arg131=)
|
|
|
|
NM_001130965.3(SUN1):c.397C>T (p.Pro133Ser)
|
|
|
|
NM_001130965.3(SUN1):c.398C>A (p.Pro133His)
|
rs367835809
|
|
|
NM_001130965.3(SUN1):c.399T>C (p.Pro133=)
|
|
|
|
NM_001130965.3(SUN1):c.402A>T (p.Val134=)
|
|
|
|
NM_001130965.3(SUN1):c.413C>G (p.Ser138Cys)
|
|
|
|
NM_001130965.3(SUN1):c.421C>T (p.Arg141Cys)
|
|
|
|
NM_001130965.3(SUN1):c.422G>A (p.Arg141His)
|
|
|
|
NM_001130965.3(SUN1):c.42T>C (p.Cys14=)
|
rs1470629872
|
|
|
NM_001130965.3(SUN1):c.444C>T (p.His148=)
|
|
|
|
NM_001130965.3(SUN1):c.447C>A (p.Phe149Leu)
|
rs1810622107
|
|
|
NM_001130965.3(SUN1):c.449G>C (p.Trp150Ser)
|
|
|
|
NM_001130965.3(SUN1):c.451+19_451+20del
|
|
|
|
NM_001130965.3(SUN1):c.451+4A>G
|
|
|
|
NM_001130965.3(SUN1):c.452-11T>G
|
|
|
|
NM_001130965.3(SUN1):c.452-13T>G
|
rs1562623023
|
|
|
NM_001130965.3(SUN1):c.452-13_452-12insG
|
rs537734027
|
|
|
NM_001130965.3(SUN1):c.452-14_452-12del
|
|
|
|
NM_001130965.3(SUN1):c.452-18G>A
|
|
|
|
NM_001130965.3(SUN1):c.452-3del
|
rs34925195
|
|
|
NM_001130965.3(SUN1):c.452-3dup
|
rs34925195
|
|
|
NM_001130965.3(SUN1):c.452-4_452-3del
|
rs34925195
|
|
|
NM_001130965.3(SUN1):c.461A>G (p.Asp154Gly)
|
|
|
|
NM_001130965.3(SUN1):c.470A>G (p.Asp157Gly)
|
rs780997836
|
|
|
NM_001130965.3(SUN1):c.502G>A (p.Gly168Arg)
|
|
|
|
NM_001130965.3(SUN1):c.507C>T (p.Asn169=)
|
|
|
|
NM_001130965.3(SUN1):c.510G>C (p.Gly170=)
|
rs771738533
|
|
|
NM_001130965.3(SUN1):c.514G>A (p.Val172Met)
|
|
|
|
NM_001130965.3(SUN1):c.520GCC[5] (p.Ala177dup)
|
rs1422408344
|
|
|
NM_001130965.3(SUN1):c.523G>A (p.Ala175Thr)
|
|
|
|
NM_001130965.3(SUN1):c.528C>T (p.Ala176=)
|
|
|
|
NM_001130965.3(SUN1):c.544G>A (p.Gly182Ser)
|
|
|
|
NM_001130965.3(SUN1):c.563G>A (p.Cys188Tyr)
|
|
|
|
NM_001130965.3(SUN1):c.569T>C (p.Met190Thr)
|
rs932480227
|
|
|
NM_001130965.3(SUN1):c.576C>T (p.Ser192=)
|
|
|
|
NM_001130965.3(SUN1):c.577G>A (p.Glu193Lys)
|
|
|
|
NM_001130965.3(SUN1):c.588C>T (p.Asp196=)
|
rs766319627
|
|
|
NM_001130965.3(SUN1):c.5A>G (p.Asp2Gly)
|
|
|
|
NM_001130965.3(SUN1):c.604C>A (p.Pro202Thr)
|
rs2128306216
|
|
|
NM_001130965.3(SUN1):c.613C>T (p.Pro205Ser)
|
rs912561766
|
|
|
NM_001130965.3(SUN1):c.615C>G (p.Pro205=)
|
|
|
|
NM_001130965.3(SUN1):c.615C>T (p.Pro205=)
|
|
|
|
NM_001130965.3(SUN1):c.622G>T (p.Val208Leu)
|
rs539058781
|
|
|
NM_001130965.3(SUN1):c.624_625insGGGTGCTCACGGCGCACCCCGCGGCCCCCGGGCCCGTG (p.Ser209fs)
|
|
|
|
NM_001130965.3(SUN1):c.627G>A (p.Ser209=)
|
|
|
|
NM_001130965.3(SUN1):c.647G>A (p.Arg216Lys)
|
|
|
|
NM_001130965.3(SUN1):c.652C>A (p.Gln218Lys)
|
|
|
|
NM_001130965.3(SUN1):c.659-10C>T
|
|
|
|
NM_001130965.3(SUN1):c.659-15G>A
|
|
|
|
NM_001130965.3(SUN1):c.659-20C>T
|
|
|
|
NM_001130965.3(SUN1):c.659-2A>G
|
|
|
|
NM_001130965.3(SUN1):c.659-2A>T
|
rs1329817920
|
|
|
NM_001130965.3(SUN1):c.664T>A (p.Phe222Ile)
|
|
|
|
NM_001130965.3(SUN1):c.671T>G (p.Leu224Arg)
|
rs2128381511
|
|
|
NM_001130965.3(SUN1):c.676_686del (p.Ile226fs)
|
rs774843286
|
|
|
NM_001130965.3(SUN1):c.679C>G (p.Leu227Val)
|
|
|
|
NM_001130965.3(SUN1):c.687G>T (p.Arg229Ser)
|
|
|
|
NM_001130965.3(SUN1):c.691G>C (p.Gly231Arg)
|
rs753073325
|
|
|
NM_001130965.3(SUN1):c.697G>C (p.Val233Leu)
|
rs377582591
|
|
|
NM_001130965.3(SUN1):c.715A>G (p.Arg239Gly)
|
rs879232845
|
|
|
NM_001130965.3(SUN1):c.71C>T (p.Ala24Val)
|
|
|
|
NM_001130965.3(SUN1):c.722C>A (p.Ala241Glu)
|
|
|
|
NM_001130965.3(SUN1):c.723G>A (p.Ala241=)
|
rs537602092
|
|
|
NM_001130965.3(SUN1):c.739C>G (p.Leu247Val)
|
rs1368322510
|
|
|
NM_001130965.3(SUN1):c.743C>G (p.Ala248Gly)
|
rs1393440678
|
|
|
NM_001130965.3(SUN1):c.744C>G (p.Ala248=)
|
rs776155785
|
|
|
NM_001130965.3(SUN1):c.744C>T (p.Ala248=)
|
|
|
|
NM_001130965.3(SUN1):c.745G>A (p.Val249Met)
|
|
|
|
NM_001130965.3(SUN1):c.748G>T (p.Val250Phe)
|
rs1562696580
|
|
|
NM_001130965.3(SUN1):c.757+11T>C
|
|
|
|
NM_001130965.3(SUN1):c.757+20G>A
|
|
|
|
NM_001130965.3(SUN1):c.757+9T>G
|
rs1584857820
|
|
|
NM_001130965.3(SUN1):c.77+12C>T
|
|
|
|
NM_001130965.3(SUN1):c.77+13C>T
|
|
|
|
NM_001130965.3(SUN1):c.77+18C>T
|
|
|
|
NM_001130965.3(SUN1):c.77+19G>A
|
|
|
|
NM_001130965.3(SUN1):c.77+1G>A
|
rs1798962063
|
|
|
NM_001130965.3(SUN1):c.77+1del
|
rs1272210110
|
|
|
NM_001130965.3(SUN1):c.78-15G>A
|
rs1806085115
|
|
|
NM_001130965.3(SUN1):c.78-19A>G
|
|
|
|
NM_001130965.3(SUN1):c.791G>A (p.Gly264Glu)
|
rs2128387566
|
|
|
NM_001130965.3(SUN1):c.7T>C (p.Phe3Leu)
|
|
|
|
NM_001130965.3(SUN1):c.819G>T (p.Leu273Phe)
|
rs2128387711
|
|
|
NM_001130965.3(SUN1):c.835G>C (p.Val279Leu)
|
rs1241533008
|
|
|
NM_001130965.3(SUN1):c.851+11G>T
|
|
|
|
NM_001130965.3(SUN1):c.851+5G>A
|
|
|
|
NM_001130965.3(SUN1):c.851+9A>G
|
rs1182624920
|
|
|
NM_001130965.3(SUN1):c.852-5C>T
|
|
|
|
NM_001130965.3(SUN1):c.852-7C>T
|
rs372242822
|
|
|
NM_001130965.3(SUN1):c.859C>T (p.Arg287Ter)
|
rs961930316
|
|
|
NM_001130965.3(SUN1):c.860G>A (p.Arg287Gln)
|
|
|
|
NM_001130965.3(SUN1):c.865A>G (p.Ile289Val)
|
rs758027769
|
|
|
NM_001130965.3(SUN1):c.898T>G (p.Phe300Val)
|
|
|
|
NM_001130965.3(SUN1):c.904T>A (p.Leu302Ile)
|
|
|
|
NM_001130965.3(SUN1):c.910+2T>C
|
rs1823355041
|
|
|
NM_001130965.3(SUN1):c.910+9A>G
|
|
|
|
NM_001130965.3(SUN1):c.910+9A>T
|
rs1584888130
|
|
|
NM_001130965.3(SUN1):c.911-3T>C
|
|
|
|
NM_001130965.3(SUN1):c.918C>G (p.Leu306=)
|
|
|
|
NM_001130965.3(SUN1):c.925C>T (p.Arg309Trp)
|
|
|
|
NM_001130965.3(SUN1):c.932A>G (p.Gln311Arg)
|
|
|
|
NM_001130965.3(SUN1):c.945T>A (p.Phe315Leu)
|
rs760512224
|
|
|
NM_001130965.3(SUN1):c.94G>A (p.Asp32Asn)
|
|
|
|
NM_001130965.3(SUN1):c.970G>A (p.Ala324Thr)
|
|
|
|
NM_001130965.3(SUN1):c.980A>G (p.His327Arg)
|
|
|
|
NM_001130965.3(SUN1):c.991C>T (p.Arg331Trp)
|
|
|
|
NM_001130965.3(SUN1):c.994G>C (p.Val332Leu)
|
|
|
|
NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)
|
|
|
|
NM_001159699.2(FHL1):c.105T>C (p.Tyr35=)
|
|
|
|
NM_001159699.2(FHL1):c.108G>A (p.Val36=)
|
rs2073842775
|
|
|
NM_001159699.2(FHL1):c.108del (p.Gln37fs)
|
rs1060502840
|
|
|
NM_001159699.2(FHL1):c.111A>G (p.Gln37=)
|
|
|
|
NM_001159699.2(FHL1):c.120C>A (p.Gly40=)
|
|
|
|
NM_001159699.2(FHL1):c.121C>T (p.His41Tyr)
|
rs1569530250
|
|
|
NM_001159699.2(FHL1):c.132C>T (p.Cys44=)
|
|
|
|
NM_001159699.2(FHL1):c.135G>A (p.Leu45=)
|
rs1603270464
|
|
|
NM_001159699.2(FHL1):c.139T>C (p.Cys47Arg)
|
|
|
|
NM_001159699.2(FHL1):c.140_141delinsTA (p.Cys47Leu)
|
rs2148371771
|
|
|
NM_001159699.2(FHL1):c.143T>A (p.Phe48Tyr)
|
|
|
|
NM_001159699.2(FHL1):c.143T>C (p.Phe48Ser)
|
|
|
|
NM_001159699.2(FHL1):c.146A>G (p.Asp49Gly)
|
|
|
|
NM_001159699.2(FHL1):c.148A>C (p.Lys50Gln)
|
rs754421860
|
|
|
NM_001159699.2(FHL1):c.150G>T (p.Lys50Asn)
|
|
|
|
NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)
|
|
|
|
NM_001159699.2(FHL1):c.166T>C (p.Cys56Arg)
|
rs2148371880
|
|
|
NM_001159699.2(FHL1):c.167G>A (p.Cys56Tyr)
|
rs1556638703
|
|
|
NM_001159699.2(FHL1):c.177C>T (p.Cys59=)
|
|
|
|
NM_001159699.2(FHL1):c.178C>T (p.Arg60Cys)
|
|
|
|
NM_001159699.2(FHL1):c.183G>A (p.Lys61=)
|
rs780792982
|
|
|
NM_001159699.2(FHL1):c.190G>A (p.Gly64Ser)
|
rs1467233713
|
|
|
NM_001159699.2(FHL1):c.198C>T (p.Asp66=)
|
|
|
|
NM_001159699.2(FHL1):c.199T>C (p.Ser67Pro)
|
|
|
|
NM_001159699.2(FHL1):c.200C>T (p.Ser67Phe)
|
rs1327221666
|
|
|
NM_001159699.2(FHL1):c.204+17T>C
|
|
|
|
NM_001159699.2(FHL1):c.204+18G>A
|
|
|
|
NM_001159699.2(FHL1):c.204+7G>C
|
|
|
|
NM_001159699.2(FHL1):c.205-13G>A
|
|
|
|
NM_001159699.2(FHL1):c.205-14T>C
|
|
|
|
NM_001159699.2(FHL1):c.205-19C>T
|
|
|
|
NM_001159699.2(FHL1):c.205-1G>A
|
rs2073859427
|
|
|
NM_001159699.2(FHL1):c.205-4C>G
|
|
|
|
NM_001159699.2(FHL1):c.215A>T (p.Tyr72Phe)
|
|
|
|
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)
|
rs2073860048
|
|
|
NM_001159699.2(FHL1):c.222C>T (p.Asn74=)
|
|
|
|
NM_001159699.2(FHL1):c.223C>T (p.Arg75Cys)
|
rs1343871742
|
|
|
NM_001159699.2(FHL1):c.225C>T (p.Arg75=)
|
|
|
|
NM_001159699.2(FHL1):c.230G>A (p.Trp77Ter)
|
|
|
|
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn)
|
rs746834335
|
|
|
NM_001159699.2(FHL1):c.240C>T (p.Thr80=)
|
|
|
|
NM_001159699.2(FHL1):c.243C>A (p.Cys81Ter)
|
rs777580253
|
|
|
NM_001159699.2(FHL1):c.245T>C (p.Phe82Ser)
|
|
|
|
NM_001159699.2(FHL1):c.246C>T (p.Phe82=)
|
|
|
|
NM_001159699.2(FHL1):c.251G>A (p.Cys84Tyr)
|
|
|
|
NM_001159699.2(FHL1):c.258G>A (p.Lys86=)
|
|
|
|
NM_001159699.2(FHL1):c.258G>C (p.Lys86Asn)
|
rs2073861633
|
|
|
NM_001159699.2(FHL1):c.259T>C (p.Cys87Arg)
|
rs2148373315
|
|
|
NM_001159699.2(FHL1):c.261C>T (p.Cys87=)
|
|
|
|
NM_001159699.2(FHL1):c.263T>C (p.Leu88Pro)
|
|
|
|
NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)
|
|
|
|
NM_001159699.2(FHL1):c.268C>T (p.Pro90Ser)
|
|
|
|
NM_001159699.2(FHL1):c.269C>G (p.Pro90Arg)
|
|
|
|
NM_001159699.2(FHL1):c.276C>T (p.Ala92=)
|
|
|
|
NM_001159699.2(FHL1):c.288del (p.Phe96fs)
|
rs2148373432
|
|
|
NM_001159699.2(FHL1):c.297G>A (p.Lys99=)
|
|
|
|
NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys)
|
rs1603270381
|
|
|
NM_001159699.2(FHL1):c.300CAA[1] (p.Asn101del)
|
rs1237021594
|
|
|
NM_001159699.2(FHL1):c.301A>C (p.Asn101His)
|
rs2073862975
|
|
|
NM_001159699.2(FHL1):c.309C>A (p.Ile103=)
|
rs372049507
|
|
|
NM_001159699.2(FHL1):c.309C>T (p.Ile103=)
|
|
|
|
NM_001159699.2(FHL1):c.317A>G (p.Asn106Ser)
|
|
|
|
NM_001159699.2(FHL1):c.331dup (p.Arg111fs)
|
|
|
|
NM_001159699.2(FHL1):c.332G>A (p.Arg111Gln)
|
|
|
|
NM_001159699.2(FHL1):c.334G>A (p.Glu112Lys)
|
|
|
|
NM_001159699.2(FHL1):c.339dup (p.Ser114fs)
|
|
|
|
NM_001159699.2(FHL1):c.347A>G (p.Lys116Arg)
|
|
|
|
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg)
|
rs2073864792
|
|
|
NM_001159699.2(FHL1):c.353A>T (p.Lys118Met)
|
rs1311888697
|
|
|
NM_001159699.2(FHL1):c.356G>T (p.Gly119Val)
|
rs1556638919
|
|
|
NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp)
|
rs1277704131
|
|
|
NM_001159699.2(FHL1):c.360dup (p.Phe121fs)
|
rs1556638935
|
|
|
NM_001159699.2(FHL1):c.377_379+24del
|
rs2148373814
|
|
|
NM_001159699.2(FHL1):c.379+10C>T
|
rs2148373876
|
|
|
NM_001159699.2(FHL1):c.379+11C>T
|
|
|
|
NM_001159699.2(FHL1):c.379+18C>T
|
rs2148373890
|
|
|
NM_001159699.2(FHL1):c.379+19C>A
|
|
|
|
NM_001159699.2(FHL1):c.379+19C>T
|
|
|
|
NM_001159699.2(FHL1):c.379+1G>A
|
rs2073866799
|
|
|
NM_001159699.2(FHL1):c.379+2T>G
|
|
|
|
NM_001159699.2(FHL1):c.379+7C>T
|
|
|
|
NM_001159699.2(FHL1):c.380-10C>A
|
|
|
|
NM_001159699.2(FHL1):c.380-10C>G
|
|
|
|
NM_001159699.2(FHL1):c.380-14G>A
|
|
|
|
NM_001159699.2(FHL1):c.380-16T>G
|
|
|
|
NM_001159699.2(FHL1):c.380-2A>G
|
rs2148375467
|
|
|
NM_001159699.2(FHL1):c.380-6C>T
|
|
|
|
NM_001159699.2(FHL1):c.380-9C>T
|
rs766762163
|
|
|
NM_001159699.2(FHL1):c.385C>A (p.Gln129Lys)
|
|
|
|
NM_001159699.2(FHL1):c.388_390dup (p.Asn130dup)
|
rs2073883748
|
|
|
NM_001159699.2(FHL1):c.390C>T (p.Asn130=)
|
|
|
|
NM_001159699.2(FHL1):c.391G>A (p.Val131Met)
|
|
|
|
NM_001159699.2(FHL1):c.393G>A (p.Val131=)
|
rs2148375546
|
|
|
NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)
|
|
|
|
NM_001159699.2(FHL1):c.398A>G (p.Tyr133Cys)
|
|
|
|
NM_001159699.2(FHL1):c.404G>C (p.Gly135Ala)
|
rs886042453
|
|
|
NM_001159699.2(FHL1):c.404G>T (p.Gly135Val)
|
rs886042453
|
|
|
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)
|
rs1569530437
|
|
|
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter)
|
rs122458140
|
|
|
NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser)
|
rs122458140
|
|
|
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys)
|
rs1556639109
|
|
|
NM_001159699.2(FHL1):c.414del (p.Trp138fs)
|
rs2148375686
|
|
|
NM_001159699.2(FHL1):c.416A>G (p.His139Arg)
|
rs267606812
|
|
|
NM_001159699.2(FHL1):c.417C>A (p.His139Gln)
|
rs267606813
|
|
|
NM_001159699.2(FHL1):c.417C>G (p.His139Gln)
|
rs267606813
|
|
|
NM_001159699.2(FHL1):c.419A>G (p.Lys140Arg)
|
|
|
|
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs)
|
rs2073885767
|
|
|
NM_001159699.2(FHL1):c.424T>C (p.Cys142Arg)
|
rs1569530450
|
|
|
NM_001159699.2(FHL1):c.425G>C (p.Cys142Ser)
|
|
|
|
NM_001159699.2(FHL1):c.426C>T (p.Cys142=)
|
|
|
|
NM_001159699.2(FHL1):c.427T>C (p.Phe143Leu)
|
rs1603271576
|
|
|
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle)
|
rs1603271580
|
|
|
NM_001159699.2(FHL1):c.429C>T (p.Phe143=)
|
|
|
|
NM_001159699.2(FHL1):c.432C>G (p.Thr144=)
|
rs1603271583
|
|
|
NM_001159699.2(FHL1):c.432C>T (p.Thr144=)
|
rs1603271583
|
|
|
NM_001159699.2(FHL1):c.434G>A (p.Cys145Tyr)
|
|
|
|
NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly)
|
rs878854460
|
|
|
NM_001159699.2(FHL1):c.441del (p.Cys148fs)
|
rs2148375860
|
|
|
NM_001159699.2(FHL1):c.449A>C (p.Gln150Pro)
|
rs2148375919
|
|
|
NM_001159699.2(FHL1):c.452T>A (p.Val151Asp)
|
rs2073887416
|
|
|
NM_001159699.2(FHL1):c.456C>A (p.Ile152=)
|
rs747594885
|
|
|
NM_001159699.2(FHL1):c.458G>T (p.Gly153Val)
|
|
|
|
NM_001159699.2(FHL1):c.466A>C (p.Ser156Arg)
|
|
|
|
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)
|
rs1556639151
|
|
|
NM_001159699.2(FHL1):c.469T>C (p.Phe157Leu)
|
rs2073888626
|
|
|
NM_001159699.2(FHL1):c.471C>T (p.Phe157=)
|
rs2148376029
|
|
|
NM_001159699.2(FHL1):c.482_484dup (p.Gly161dup)
|
rs1314023088
|
|
|
NM_001159699.2(FHL1):c.494A>G (p.Tyr165Cys)
|
rs2148376111
|
|
|
NM_001159699.2(FHL1):c.494_496del (p.Tyr165del)
|
rs886044209
|
|
|
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)
|
rs1603271659
|
|
|
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr)
|
rs122459146
|
|
|
NM_001159699.2(FHL1):c.498C>G (p.Cys166Trp)
|
rs145445372
|
|
|
NM_001159699.2(FHL1):c.500T>C (p.Val167Ala)
|
|
|
|
NM_001159699.2(FHL1):c.500T>G (p.Val167Gly)
|
|
|
|
NM_001159699.2(FHL1):c.502A>T (p.Thr168Ser)
|
rs2073890274
|
|
|
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser)
|
rs122458144
|
|
|
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)
|
rs122458144
|
|
|
NM_001159699.2(FHL1):c.505T>G (p.Cys169Gly)
|
rs122458144
|
|
|
NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr)
|
rs122458145
|
|
|
NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)
|
|
|
|
NM_001159699.2(FHL1):c.50T>C (p.Met17Thr)
|
|
|
|
NM_001159699.2(FHL1):c.510T>C (p.His170=)
|
rs1603271708
|
|
|
NM_001159699.2(FHL1):c.515C>A (p.Thr172Asn)
|
|
|
|
NM_001159699.2(FHL1):c.518A>G (p.Lys173Arg)
|
|
|
|
NM_001159699.2(FHL1):c.518del (p.Lys173fs)
|
|
|
|
NM_001159699.2(FHL1):c.525C>T (p.Ala175=)
|
|
|
|
NM_001159699.2(FHL1):c.530A>G (p.His177Arg)
|
|
|
|
NM_001159699.2(FHL1):c.531T>G (p.His177Gln)
|
|
|
|
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp)
|
rs377693754
|
|
|
NM_001159699.2(FHL1):c.535G>A (p.Val179Met)
|
|
|
|
NM_001159699.2(FHL1):c.536T>G (p.Val179Gly)
|
rs1556639237
|
|
|
NM_001159699.2(FHL1):c.545A>C (p.Asn182Thr)
|
rs1569530504
|
|
|
NM_001159699.2(FHL1):c.548A>G (p.Lys183Arg)
|
|
|
|
NM_001159699.2(FHL1):c.549+20C>T
|
|
|
|
NM_001159699.2(FHL1):c.549+3A>G
|
|
|
|
NM_001159699.2(FHL1):c.549+4T>C
|
|
|
|
NM_001159699.2(FHL1):c.549+4T>G
|
|
|
|
NM_001159699.2(FHL1):c.549+7T>A
|
|
|
|
NM_001159699.2(FHL1):c.54G>A (p.Ala18=)
|
|
|
|
NM_001159699.2(FHL1):c.550-13C>G
|
rs372709825
|
|
|
NM_001159699.2(FHL1):c.550-13C>T
|
|
|
|
NM_001159699.2(FHL1):c.550-15C>T
|
rs764137409
|
|
|
NM_001159699.2(FHL1):c.550-16A>G
|
|
|
|
NM_001159699.2(FHL1):c.550-18C>G
|
|
|
|
NM_001159699.2(FHL1):c.552C>T (p.Ala184=)
|
|
|
|
NM_001159699.2(FHL1):c.558A>G (p.Thr186=)
|
rs2148378187
|
|
|
NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter)
|
rs2148371451
|
|
|
NM_001159699.2(FHL1):c.562G>A (p.Gly188Arg)
|
rs2148378198
|
|
|
NM_001159699.2(FHL1):c.572C>G (p.Thr191Ser)
|
|
|
|
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter)
|
rs1603272191
|
|
|
NM_001159699.2(FHL1):c.585G>A (p.Gln195=)
|
rs2148378283
|
|
|
NM_001159699.2(FHL1):c.588C>A (p.Pro196=)
|
|
|
|
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter)
|
rs1191211949
|
|
|
NM_001159699.2(FHL1):c.597C>G (p.Ala199=)
|
|
|
|
NM_001159699.2(FHL1):c.600T>C (p.Asp200=)
|
|
|
|
NM_001159699.2(FHL1):c.606dup (p.Val203fs)
|
|
|
|
NM_001159699.2(FHL1):c.613G>A (p.Val205Ile)
|
|
|
|
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)
|
rs1569530588
|
|
|
NM_001159699.2(FHL1):c.617C>A (p.Thr206Asn)
|
|
|
|
NM_001159699.2(FHL1):c.618C>G (p.Thr206=)
|
rs1556639368
|
|
|
NM_001159699.2(FHL1):c.618del (p.Cys207fs)
|
rs2148378462
|
|
|
NM_001159699.2(FHL1):c.621C>G (p.Cys207Trp)
|
rs2148378483
|
|
|
NM_001159699.2(FHL1):c.623C>G (p.Ser208Cys)
|
rs1406462908
|
|
|
NM_001159699.2(FHL1):c.633G>C (p.Leu211=)
|
|
|
|
NM_001159699.2(FHL1):c.635C>G (p.Ala212Gly)
|
rs2073912710
|
|
|
NM_001159699.2(FHL1):c.63T>C (p.Phe21=)
|
rs2073841797
|
|
|
NM_001159699.2(FHL1):c.63T>G (p.Phe21Leu)
|
rs2073841797
|
|
|
NM_001159699.2(FHL1):c.640C>A (p.Gln214Lys)
|
|
|
|
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter)
|
rs1603272223
|
|
|
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs)
|
rs2073913069
|
|
|
NM_001159699.2(FHL1):c.653C>T (p.Ala218Val)
|
|
|
|
NM_001159699.2(FHL1):c.658G>A (p.Glu220Lys)
|
|
|
|
NM_001159699.2(FHL1):c.661dup (p.Asp221fs)
|
rs1556639379
|
|
|
NM_001159699.2(FHL1):c.664C>T (p.Gln222Ter)
|
|
|
|
NM_001159699.2(FHL1):c.665A>G (p.Gln222Arg)
|
rs915687031
|
|
|
NM_001159699.2(FHL1):c.669T>C (p.Tyr223=)
|
rs1603272258
|
|
|
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)
|
rs1603272263
|
|
|
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)
|
|
|
|
NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)
|
|
|
|
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg)
|
rs122459149
|
|
|
NM_001159699.2(FHL1):c.676G>A (p.Val226Met)
|
|
|
|
NM_001159699.2(FHL1):c.683G>C (p.Cys228Ser)
|
|
|
|
NM_001159699.2(FHL1):c.68G>T (p.Cys23Phe)
|
rs2073842039
|
|
|
NM_001159699.2(FHL1):c.693C>G (p.Asn231Lys)
|
rs2073914454
|
|
|
NM_001159699.2(FHL1):c.69C>T (p.Cys23=)
|
|
|
|
NM_001159699.2(FHL1):c.701C>G (p.Ala234Gly)
|
|
|
|
NM_001159699.2(FHL1):c.702C>T (p.Ala234=)
|
|
|
|
NM_001159699.2(FHL1):c.703AAG[3] (p.Lys236dup)
|
rs1569530609
|
|
|
NM_001159699.2(FHL1):c.704A>T (p.Lys235Met)
|
|
|
|
NM_001159699.2(FHL1):c.708_736+22del
|
rs2148378774
|
|
|
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)
|
rs122458141
|
|
|
NM_001159699.2(FHL1):c.725A>G (p.Asn242Ser)
|
rs2073916017
|
|
|
NM_001159699.2(FHL1):c.726C>T (p.Asn242=)
|
rs781537817
|
|
|
NM_001159699.2(FHL1):c.729C>A (p.Pro243=)
|
rs1060504733
|
|
|
NM_001159699.2(FHL1):c.72C>G (p.His24Gln)
|
|
|
|
NM_001159699.2(FHL1):c.736+11del
|
|
|
|
NM_001159699.2(FHL1):c.736+15C>T
|
|
|
|
NM_001159699.2(FHL1):c.736+19G>C
|
|
|
|
NM_001159699.2(FHL1):c.736+1G>A
|
rs786200914
|
|
|
NM_001159699.2(FHL1):c.736+1G>C
|
rs786200914
|
|
|
NM_001159699.2(FHL1):c.736+2T>G
|
rs2073916521
|
|
|
NM_001159699.2(FHL1):c.736+3_736+4del
|
|
|
|
NM_001159699.2(FHL1):c.736+5G>T
|
|
|
|
NM_001159699.2(FHL1):c.736+9A>T
|
|
|
|
NM_001159699.2(FHL1):c.737-10T>G
|
|
|
|
NM_001159699.2(FHL1):c.737-11T>C
|
|
|
|
NM_001159699.2(FHL1):c.737-13T>G
|
|
|
|
NM_001159699.2(FHL1):c.737-13_737-9del
|
rs374867802
|
|
|
NM_001159699.2(FHL1):c.737-14_737-13insCTTT
|
rs767661713
|
|
|
NM_001159699.2(FHL1):c.737-16T>C
|
|
|
|
NM_001159699.2(FHL1):c.737-17_737-16insA
|
|
|
|
NM_001159699.2(FHL1):c.737-18_737-15del
|
rs2148383206
|
|
|
NM_001159699.2(FHL1):c.737-22_737-19del
|
|
|
|
NM_001159699.2(FHL1):c.737-3C>T
|
|
|
|
NM_001159699.2(FHL1):c.737-3del
|
rs368428875
|
|
|
NM_001159699.2(FHL1):c.737-3dup
|
|
|
|
NM_001159699.2(FHL1):c.737-6C>T
|
|
|
|
NM_001159699.2(FHL1):c.737-7C>T
|
rs774150299
|
|
|
NM_001159699.2(FHL1):c.737-8C>A
|
rs2076705
|
|
|
NM_001159699.2(FHL1):c.737-9T>G
|
|
|
|
NM_001159699.2(FHL1):c.737-9_737-8delinsCT
|
rs1603273550
|
|
|
NM_001159699.2(FHL1):c.737-9del
|
rs374867802
|
|
|
NM_001159699.2(FHL1):c.737-9dup
|
rs374867802
|
|
|
NM_001159699.2(FHL1):c.738G>T (p.Gly246=)
|
|
|
|
NM_001159699.2(FHL1):c.740T>C (p.Phe247Ser)
|
|
|
|
NM_001159699.2(FHL1):c.750C>T (p.Gly250=)
|
|
|
|
NM_001159699.2(FHL1):c.753C>T (p.Ser251=)
|
rs2148383466
|
|
|
NM_001159699.2(FHL1):c.755G>C (p.Ser252Thr)
|
|
|
|
NM_001159699.2(FHL1):c.757G>A (p.Val253Met)
|
|
|
|
NM_001159699.2(FHL1):c.75C>T (p.Tyr25=)
|
rs2148371522
|
|
|
NM_001159699.2(FHL1):c.76T>C (p.Cys26Arg)
|
rs2148371530
|
|
|
NM_001159699.2(FHL1):c.776A>G (p.Gln259Arg)
|
rs1389916579
|
|
|
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr)
|
rs2148371537
|
|
|
NM_001159699.2(FHL1):c.780C>A (p.Ser260=)
|
|
|
|
NM_001159699.2(FHL1):c.780C>T (p.Ser260=)
|
|
|
|
NM_001159699.2(FHL1):c.784C>T (p.His262Tyr)
|
rs1569530811
|
|
|
NM_001159699.2(FHL1):c.785_793dup (p.Tyr264_Cys265insTyrAspTyr)
|
rs1603273609
|
|
|
NM_001159699.2(FHL1):c.786C>A (p.His262Gln)
|
rs141231353
|
|
|
NM_001159699.2(FHL1):c.786C>G (p.His262Gln)
|
|
|
|
NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)
|
|
|
|
NM_001159699.2(FHL1):c.794G>A (p.Cys265Tyr)
|
rs56391414
|
|
|
NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser)
|
rs56391414
|
|
|
NM_001159699.2(FHL1):c.794G>T (p.Cys265Phe)
|
|
|
|
NM_001159699.2(FHL1):c.797dup (p.His267fs)
|
|
|
|
NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)
|
|
|
|
NM_001159699.2(FHL1):c.802T>C (p.Cys268Arg)
|
|
|
|
NM_001159699.2(FHL1):c.803G>A (p.Cys268Tyr)
|
rs1569530823
|
|
|
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)
|
rs2073964376
|
|
|
NM_001159699.2(FHL1):c.811T>C (p.Cys271Arg)
|
rs1569530825
|
|
|
NM_001159699.2(FHL1):c.812G>A (p.Cys271Tyr)
|
rs869025431
|
|
|
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
|
|
|
|
NM_001159699.2(FHL1):c.814T>A (p.Ser272Thr)
|
rs2073964922
|
|
|
NM_001159699.2(FHL1):c.816C>A (p.Ser272=)
|
rs758552293
|
|
|
NM_001159699.2(FHL1):c.817G>C (p.Val273Leu)
|
rs190006104
|
|
|
NM_001159699.2(FHL1):c.819G>C (p.Val273=)
|
rs2148383774
|
|
|
NM_001159699.2(FHL1):c.823C>G (p.Leu275Val)
|
rs2148383784
|
|
|
NM_001159699.2(FHL1):c.823C>T (p.Leu275=)
|
|
|
|
NM_001159699.2(FHL1):c.825G>C (p.Leu275=)
|
|
|
|
NM_001159699.2(FHL1):c.826G>A (p.Ala276Thr)
|
|
|
|
NM_001159699.2(FHL1):c.830A>G (p.Asn277Ser)
|
rs2148383804
|
|
|
NM_001159699.2(FHL1):c.831del (p.Asn277fs)
|
|
|
|
NM_001159699.2(FHL1):c.833A>G (p.Lys278Arg)
|
|
|
|
NM_001159699.2(FHL1):c.834G>T (p.Lys278Asn)
|
|
|
|
NM_001159699.2(FHL1):c.834dup (p.Arg279fs)
|
|
|
|
NM_001159699.2(FHL1):c.835C>T (p.Arg279Cys)
|
|
|
|
NM_001159699.2(FHL1):c.837C>A (p.Arg279=)
|
|
|
|
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)
|
rs1603273685
|
|
|
NM_001159699.2(FHL1):c.844T>C (p.Phe282Leu)
|
|
|
|
NM_001159699.2(FHL1):c.847C>A (p.His283Asn)
|
rs2148383871
|
|
|
NM_001159699.2(FHL1):c.849C>T (p.His283=)
|
|
|
|
NM_001159699.2(FHL1):c.852G>A (p.Gln284=)
|
rs774024150
|
|
|
NM_001159699.2(FHL1):c.852G>C (p.Gln284His)
|
rs774024150
|
|
|
NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)
|
|
|
|
NM_001159699.2(FHL1):c.855G>A (p.Glu285=)
|
rs1556639756
|
|
|
NM_001159699.2(FHL1):c.855dup (p.Gln286fs)
|
|
|
|
NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)
|
|
|
|
NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)
|
|
|
|
NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs)
|
rs2148383945
|
|
|
NM_001159699.2(FHL1):c.865T>C (p.Cys289Arg)
|
|
|
|
NM_001159699.2(FHL1):c.865T>G (p.Cys289Gly)
|
rs2073967346
|
|
|
NM_001159699.2(FHL1):c.865dup (p.Cys289fs)
|
rs1603273697
|
|
|
NM_001159699.2(FHL1):c.866G>A (p.Cys289Tyr)
|
|
|
|
NM_001159699.2(FHL1):c.866G>C (p.Cys289Ser)
|
rs1603273709
|
|
|
NM_001159699.2(FHL1):c.866G>T (p.Cys289Phe)
|
rs1603273709
|
|
|
NM_001159699.2(FHL1):c.868C>T (p.Pro290Ser)
|
rs1039991254
|
|
|
NM_001159699.2(FHL1):c.870C>A (p.Pro290=)
|
|
|
|
NM_001159699.2(FHL1):c.874T>A (p.Cys292Ser)
|
rs1556639771
|
|
|
NM_001159699.2(FHL1):c.875G>A (p.Cys292Tyr)
|
rs2148384040
|
|
|
NM_001159699.2(FHL1):c.876T>C (p.Cys292=)
|
|
|
|
NM_001159699.2(FHL1):c.876_877del (p.Ala293fs)
|
|
|
|
NM_001159699.2(FHL1):c.87C>T (p.Pro29=)
|
|
|
|
NM_001159699.2(FHL1):c.888G>A (p.Leu296=)
|
|
|
|
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu)
|
rs122459148
|
|
|
NM_001159699.2(FHL1):c.891A>C (p.Ter297Tyr)
|
rs2073968496
|
|
|
NM_001159699.2(FHL1):c.891A>T (p.Ter297Tyr)
|
|
|
|
NM_001159699.2(FHL1):c.91C>G (p.Gln31Glu)
|
|
|
|
NM_001159702.3(FHL1):c.705_706del (p.Arg236fs)
|
|
|
|
NM_001159702.3(FHL1):c.718C>T (p.Pro240Ser)
|
rs1603272887
|
|
|
NM_001159702.3(FHL1):c.838G>A (p.Val280Met)
|
rs267606811
|
|
|
NM_001347702.2(SYNE1):c.1444G>A (p.Val482Ile)
|
rs1389837024
|
|
|
NM_001347702.2(SYNE1):c.1452C>A (p.Ile484=)
|
|
|
|
NM_001347702.2(SYNE1):c.1456G>A (p.Glu486Lys)
|
|
|
|
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
|
|
|
|
NM_001347702.2(SYNE1):c.1492G>T (p.Ala498Ser)
|
|
|
|
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg)
|
rs746655221
|
|
|
NM_001449.4(FHL1):c.157-?_*1334+?dup
|
|
|
|
NM_005572.3(LMNA):c.-225C>A
|
rs886045355
|
|
|
NM_005572.3(LMNA):c.-226C>T
|
rs886045354
|
|
|
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)
|
rs80338938
|
|
|
NM_006767.4(LZTR1):c.495G>A (p.Trp165Ter)
|
|
|
|
NM_015374.3(SUN2):c.1002G>C (p.Gly334=)
|
|
|
|
NM_015374.3(SUN2):c.1013G>A (p.Arg338His)
|
|
|
|
NM_015374.3(SUN2):c.1015C>T (p.Arg339Cys)
|
|
|
|
NM_015374.3(SUN2):c.1016G>T (p.Arg339Leu)
|
|
|
|
NM_015374.3(SUN2):c.1057G>A (p.Ala353Thr)
|
|
|
|
NM_015374.3(SUN2):c.1058C>G (p.Ala353Gly)
|
|
|
|
NM_015374.3(SUN2):c.1060C>T (p.Arg354Cys)
|
|
|
|
NM_015374.3(SUN2):c.1069-10C>T
|
rs751557207
|
|
|
NM_015374.3(SUN2):c.1072G>C (p.Glu358Gln)
|
rs2092858191
|
|
|
NM_015374.3(SUN2):c.1081G>T (p.Ala361Ser)
|
rs2092858095
|
|
|
NM_015374.3(SUN2):c.1090G>C (p.Ala364Pro)
|
rs2145970738
|
|
|
NM_015374.3(SUN2):c.1092A>C (p.Ala364=)
|
|
|
|
NM_015374.3(SUN2):c.1100A>G (p.Gln367Arg)
|
|
|
|
NM_015374.3(SUN2):c.1110AGA[1] (p.Glu371del)
|
rs1448167208
|
|
|
NM_015374.3(SUN2):c.1114G>T (p.Asp372Tyr)
|
|
|
|
NM_015374.3(SUN2):c.1115A>G (p.Asp372Gly)
|
|
|
|
NM_015374.3(SUN2):c.1146+14C>T
|
|
|
|
NM_015374.3(SUN2):c.1146+15G>A
|
|
|
|
NM_015374.3(SUN2):c.1146+3C>A
|
rs2092857349
|
|
|
NM_015374.3(SUN2):c.1146+9G>T
|
|
|
|
NM_015374.3(SUN2):c.1147-11T>C
|
|
|
|
NM_015374.3(SUN2):c.1147-19G>C
|
|
|
|
NM_015374.3(SUN2):c.1184G>A (p.Trp395Ter)
|
|
|
|
NM_015374.3(SUN2):c.1190+15C>A
|
|
|
|
NM_015374.3(SUN2):c.1190+4C>A
|
|
|
|
NM_015374.3(SUN2):c.1191-3C>T
|
rs2145957103
|
|
|
NM_015374.3(SUN2):c.1218C>T (p.Ser406=)
|
rs1368002307
|
|
|
NM_015374.3(SUN2):c.122+17G>A
|
|
|
|
NM_015374.3(SUN2):c.123-14T>C
|
rs759683752
|
|
|
NM_015374.3(SUN2):c.123-19C>G
|
rs767573606
|
|
|
NM_015374.3(SUN2):c.1231C>G (p.Leu411Val)
|
rs552540669
|
|
|
NM_015374.3(SUN2):c.1251G>C (p.Gln417His)
|
|
|
|
NM_015374.3(SUN2):c.1261C>G (p.Leu421Val)
|
rs780688397
|
|
|
NM_015374.3(SUN2):c.1266G>A (p.Gln422=)
|
|
|
|
NM_015374.3(SUN2):c.126C>A (p.Thr42=)
|
|
|
|
NM_015374.3(SUN2):c.1273C>T (p.Leu425=)
|
|
|
|
NM_015374.3(SUN2):c.1278G>A (p.Ala426=)
|
|
|
|
NM_015374.3(SUN2):c.1290G>T (p.Leu430=)
|
|
|
|
NM_015374.3(SUN2):c.1307C>T (p.Ala436Val)
|
|
|
|
NM_015374.3(SUN2):c.1308G>A (p.Ala436=)
|
rs537365600
|
|
|
NM_015374.3(SUN2):c.1338C>T (p.Ile446=)
|
|
|
|
NM_015374.3(SUN2):c.1345G>A (p.Val449Met)
|
rs117350165
|
|
|
NM_015374.3(SUN2):c.1345G>C (p.Val449Leu)
|
rs117350165
|
|
|
NM_015374.3(SUN2):c.1348C>T (p.Arg450Trp)
|
|
|
|
NM_015374.3(SUN2):c.1352A>G (p.Asp451Gly)
|
rs2092844667
|
|
|
NM_015374.3(SUN2):c.1356+20del
|
|
|
|
NM_015374.3(SUN2):c.1356+4_1356+8dup
|
|
|
|
NM_015374.3(SUN2):c.1357-10G>T
|
rs2145950862
|
|
|
NM_015374.3(SUN2):c.1364C>T (p.Ser455Phe)
|
|
|
|
NM_015374.3(SUN2):c.1392C>T (p.Phe464=)
|
|
|
|
NM_015374.3(SUN2):c.1396G>A (p.Ala466Thr)
|
|
|
|
NM_015374.3(SUN2):c.1399C>G (p.Arg467Gly)
|
|
|
|
NM_015374.3(SUN2):c.1400G>A (p.Arg467Gln)
|
|
|
|
NM_015374.3(SUN2):c.1406G>C (p.Gly469Ala)
|
|
|
|
NM_015374.3(SUN2):c.1409G>C (p.Gly470Ala)
|
|
|
|
NM_015374.3(SUN2):c.1414C>T (p.Arg472Cys)
|
|
|
|
NM_015374.3(SUN2):c.1417G>A (p.Val473Met)
|
|
|
|
NM_015374.3(SUN2):c.1421_1429del (p.Gly474_Gln477delinsGlu)
|
rs2145950062
|
|
|
NM_015374.3(SUN2):c.1422G>A (p.Gly474=)
|
|
|
|
NM_015374.3(SUN2):c.1435G>C (p.Glu479Gln)
|
|
|
|
NM_015374.3(SUN2):c.1437G>A (p.Glu479=)
|
rs1426973731
|
|
|
NM_015374.3(SUN2):c.1455G>A (p.Leu485=)
|
rs1049599036
|
|
|
NM_015374.3(SUN2):c.1456C>T (p.Arg486Ter)
|
|
|
|
NM_015374.3(SUN2):c.1485T>C (p.His495=)
|
|
|
|
NM_015374.3(SUN2):c.1510G>C (p.Ala504Pro)
|
|
|
|
NM_015374.3(SUN2):c.1521C>T (p.Ala507=)
|
|
|
|
NM_015374.3(SUN2):c.1523C>T (p.Ala508Val)
|
|
|
|
NM_015374.3(SUN2):c.154C>T (p.Arg52Cys)
|
|
|
|
NM_015374.3(SUN2):c.1562T>C (p.Ile521Thr)
|
|
|
|
NM_015374.3(SUN2):c.1579-16G>A
|
|
|
|
NM_015374.3(SUN2):c.1579C>G (p.Gln527Glu)
|
|
|
|
NM_015374.3(SUN2):c.1585C>T (p.His529Tyr)
|
|
|
|
NM_015374.3(SUN2):c.1593C>T (p.Ile531=)
|
|
|
|
NM_015374.3(SUN2):c.1612C>T (p.Arg538Cys)
|
rs2092835149
|
|
|
NM_015374.3(SUN2):c.1648G>A (p.Ala550Thr)
|
|
|
|
NM_015374.3(SUN2):c.165A>C (p.Pro55=)
|
|
|
|
NM_015374.3(SUN2):c.1663+13C>T
|
|
|
|
NM_015374.3(SUN2):c.1663+4C>G
|
|
|
|
NM_015374.3(SUN2):c.1663+5G>A
|
|
|
|
NM_015374.3(SUN2):c.1664-11T>C
|
|
|
|
NM_015374.3(SUN2):c.1664-18C>T
|
|
|
|
NM_015374.3(SUN2):c.1664-8T>C
|
|
|
|
NM_015374.3(SUN2):c.1672G>A (p.Val558Ile)
|
|
|
|
NM_015374.3(SUN2):c.1677C>T (p.Ile559=)
|
rs1318955450
|
|
|
NM_015374.3(SUN2):c.167C>T (p.Ala56Val)
|
|
|
|
NM_015374.3(SUN2):c.1691C>G (p.Ser564Cys)
|
rs1352285124
|
|
|
NM_015374.3(SUN2):c.1702G>A (p.Glu568Lys)
|
|
|
|
NM_015374.3(SUN2):c.1734C>A (p.Gly578=)
|
|
|
|
NM_015374.3(SUN2):c.1740C>T (p.Pro580=)
|
rs570193292
|
|
|
NM_015374.3(SUN2):c.1765C>T (p.Arg589Ter)
|
|
|
|
NM_015374.3(SUN2):c.1779+17C>A
|
|
|
|
NM_015374.3(SUN2):c.1797C>T (p.Gly599=)
|
rs749129041
|
|
|
NM_015374.3(SUN2):c.1807G>A (p.Ala603Thr)
|
rs1384723835
|
|
|
NM_015374.3(SUN2):c.1826G>C (p.Gly609Ala)
|
rs949979981
|
|
|
NM_015374.3(SUN2):c.182C>T (p.Pro61Leu)
|
|
|
|
NM_015374.3(SUN2):c.1830C>T (p.Phe610=)
|
|
|
|
NM_015374.3(SUN2):c.1838T>C (p.Val613Ala)
|
|
|
|
NM_015374.3(SUN2):c.183G>A (p.Pro61=)
|
|
|
|
NM_015374.3(SUN2):c.1840C>T (p.Arg614Cys)
|
|
|
|
NM_015374.3(SUN2):c.1841G>A (p.Arg614His)
|
|
|
|
NM_015374.3(SUN2):c.185C>G (p.Ser62Cys)
|
|
|
|
NM_015374.3(SUN2):c.1886T>C (p.Val629Ala)
|
rs2092828049
|
|
|
NM_015374.3(SUN2):c.1894G>A (p.Ala632Thr)
|
rs1021027363
|
|
|
NM_015374.3(SUN2):c.1921A>T (p.Ser641Cys)
|
rs2092827661
|
|
|
NM_015374.3(SUN2):c.1940C>T (p.Ala647Val)
|
|
|
|
NM_015374.3(SUN2):c.1947+12T>C
|
|
|
|
NM_015374.3(SUN2):c.1947+7A>G
|
rs1569294585
|
|
|
NM_015374.3(SUN2):c.1948-9T>C
|
|
|
|
NM_015374.3(SUN2):c.1972G>A (p.Glu658Lys)
|
|
|
|
NM_015374.3(SUN2):c.19C>T (p.Arg7Cys)
|
|
|
|
NM_015374.3(SUN2):c.2013C>T (p.Gly671=)
|
|
|
|
NM_015374.3(SUN2):c.2017C>A (p.Pro673Thr)
|
|
|
|
NM_015374.3(SUN2):c.2032C>T (p.His678Tyr)
|
rs771616583
|
|
|
NM_015374.3(SUN2):c.2040+19C>G
|
|
|
|
NM_015374.3(SUN2):c.2040+19_2040+21delinsGCGTACCTGGGCAGATGCAGGTACGGGAT
|
|
|
|
NM_015374.3(SUN2):c.2040+5G>A
|
|
|
|
NM_015374.3(SUN2):c.2040+8A>G
|
|
|
|
NM_015374.3(SUN2):c.2041-16T>C
|
|
|
|
NM_015374.3(SUN2):c.2043C>A (p.Ala681=)
|
rs751159582
|
|
|
NM_015374.3(SUN2):c.2043C>G (p.Ala681=)
|
|
|
|
NM_015374.3(SUN2):c.2048C>T (p.Thr683Met)
|
|
|
|
NM_015374.3(SUN2):c.2053del (p.Ala685fs)
|
rs1264903354
|
|
|
NM_015374.3(SUN2):c.2073G>C (p.Glu691Asp)
|
|
|
|
NM_015374.3(SUN2):c.2074C>T (p.Leu692=)
|
rs1603210228
|
|
|
NM_015374.3(SUN2):c.2077C>T (p.Arg693Trp)
|
|
|
|
NM_015374.3(SUN2):c.2078G>A (p.Arg693Gln)
|
rs137996727
|
|
|
NM_015374.3(SUN2):c.2078G>T (p.Arg693Leu)
|
|
|
|
NM_015374.3(SUN2):c.2094G>C (p.Trp698Cys)
|
|
|
|
NM_015374.3(SUN2):c.20G>A (p.Arg7His)
|
|
|
|
NM_015374.3(SUN2):c.2104G>A (p.Glu702Lys)
|
|
|
|
NM_015374.3(SUN2):c.2104G>C (p.Glu702Gln)
|
|
|
|
NM_015374.3(SUN2):c.2122C>T (p.Arg708Cys)
|
|
|
|
NM_015374.3(SUN2):c.2140G>A (p.Glu714Lys)
|
rs2092804001
|
|
|
NM_015374.3(SUN2):c.2145C>T (p.Pro715=)
|
|
|
|
NM_015374.3(SUN2):c.2147C>A (p.Ala716Asp)
|
|
|
|
NM_015374.3(SUN2):c.2149C>G (p.His717Asp)
|
|
|
|
NM_015374.3(SUN2):c.2151C>A (p.His717Gln)
|
rs917841252
|
|
|
NM_015374.3(SUN2):c.218C>T (p.Ser73Leu)
|
|
|
|
NM_015374.3(SUN2):c.229G>A (p.Glu77Lys)
|
|
|
|
NM_015374.3(SUN2):c.233C>T (p.Ser78Phe)
|
|
|
|
NM_015374.3(SUN2):c.245C>A (p.Pro82His)
|
rs2092943711
|
|
|
NM_015374.3(SUN2):c.247A>C (p.Arg83=)
|
rs1474913633
|
|
|
NM_015374.3(SUN2):c.252C>T (p.Ser84=)
|
|
|
|
NM_015374.3(SUN2):c.254C>A (p.Ser85Tyr)
|
|
|
|
NM_015374.3(SUN2):c.255C>G (p.Ser85=)
|
|
|
|
NM_015374.3(SUN2):c.261G>A (p.Glu87=)
|
|
|
|
NM_015374.3(SUN2):c.265_266delinsTG (p.Leu89Trp)
|
|
|
|
NM_015374.3(SUN2):c.284G>A (p.Trp95Ter)
|
|
|
|
NM_015374.3(SUN2):c.286+12G>T
|
rs2146081428
|
|
|
NM_015374.3(SUN2):c.286+19G>A
|
|
|
|
NM_015374.3(SUN2):c.286+3G>C
|
rs539528181
|
|
|
NM_015374.3(SUN2):c.287-17G>C
|
|
|
|
NM_015374.3(SUN2):c.287-7T>C
|
rs1603230014
|
|
|
NM_015374.3(SUN2):c.299G>A (p.Arg100Gln)
|
|
|
|
NM_015374.3(SUN2):c.29G>A (p.Arg10His)
|
|
|
|
NM_015374.3(SUN2):c.305G>A (p.Arg102Gln)
|
|
|
|
NM_015374.3(SUN2):c.306G>A (p.Arg102=)
|
|
|
|
NM_015374.3(SUN2):c.306GAG[2] (p.Arg105del)
|
rs774003824
|
|
|
NM_015374.3(SUN2):c.309G>T (p.Arg103Ser)
|
|
|
|
NM_015374.3(SUN2):c.311G>A (p.Arg104Lys)
|
|
|
|
NM_015374.3(SUN2):c.320C>G (p.Thr107Arg)
|
rs775966191
|
|
|
NM_015374.3(SUN2):c.321G>A (p.Thr107=)
|
|
|
|
NM_015374.3(SUN2):c.348C>T (p.Ser116=)
|
|
|
|
NM_015374.3(SUN2):c.374A>C (p.Glu125Ala)
|
|
|
|
NM_015374.3(SUN2):c.405C>T (p.Ser135=)
|
|
|
|
NM_015374.3(SUN2):c.415G>A (p.Asp139Asn)
|
rs764864329
|
|
|
NM_015374.3(SUN2):c.425-3C>T
|
rs368321480
|
|
|
NM_015374.3(SUN2):c.425-4G>T
|
|
|
|
NM_015374.3(SUN2):c.437T>C (p.Val146Ala)
|
|
|
|
NM_015374.3(SUN2):c.437T>G (p.Val146Gly)
|
rs777319339
|
|
|
NM_015374.3(SUN2):c.449G>C (p.Ser150Thr)
|
|
|
|
NM_015374.3(SUN2):c.450T>C (p.Ser150=)
|
|
|
|
NM_015374.3(SUN2):c.451T>G (p.Ser151Ala)
|
|
|
|
NM_015374.3(SUN2):c.452C>G (p.Ser151Cys)
|
|
|
|
NM_015374.3(SUN2):c.460C>T (p.Arg154Trp)
|
rs150906372
|
|
|
NM_015374.3(SUN2):c.470G>A (p.Ser157Asn)
|
rs1556013290
|
|
|
NM_015374.3(SUN2):c.482G>A (p.Arg161Gln)
|
|
|
|
NM_015374.3(SUN2):c.486G>A (p.Ala162=)
|
|
|
|
NM_015374.3(SUN2):c.520+14C>T
|
|
|
|
NM_015374.3(SUN2):c.520+18C>G
|
|
|
|
NM_015374.3(SUN2):c.520G>C (p.Gly174Arg)
|
rs1390604251
|
|
|
NM_015374.3(SUN2):c.521-20C>T
|
|
|
|
NM_015374.3(SUN2):c.524G>A (p.Arg175Gln)
|
|
|
|
NM_015374.3(SUN2):c.52_57dup (p.Ser19_Ser20insGlySer)
|
|
|
|
NM_015374.3(SUN2):c.539T>C (p.Leu180Pro)
|
rs2092930754
|
|
|
NM_015374.3(SUN2):c.544T>C (p.Trp182Arg)
|
|
|
|
NM_015374.3(SUN2):c.550G>T (p.Ala184Ser)
|
rs2092930608
|
|
|
NM_015374.3(SUN2):c.55A>G (p.Ser19Gly)
|
|
|
|
NM_015374.3(SUN2):c.55AGC[3] (p.Ser22del)
|
rs781129819
|
|
|
NM_015374.3(SUN2):c.561C>G (p.Thr187=)
|
rs775025047
|
|
|
NM_015374.3(SUN2):c.567C>T (p.Tyr189=)
|
|
|
|
NM_015374.3(SUN2):c.569G>T (p.Arg190Leu)
|
rs149088273
|
|
|
NM_015374.3(SUN2):c.614+14C>T
|
|
|
|
NM_015374.3(SUN2):c.614+18C>T
|
|
|
|
NM_015374.3(SUN2):c.614+3G>A
|
rs2146065638
|
|
|
NM_015374.3(SUN2):c.615-12C>T
|
|
|
|
NM_015374.3(SUN2):c.617G>T (p.Arg206Leu)
|
rs568825133
|
|
|
NM_015374.3(SUN2):c.619T>C (p.Phe207Leu)
|
|
|
|
NM_015374.3(SUN2):c.628C>T (p.Leu210=)
|
|
|
|
NM_015374.3(SUN2):c.66C>T (p.Ser22=)
|
|
|
|
NM_015374.3(SUN2):c.671C>T (p.Thr224Met)
|
|
|
|
NM_015374.3(SUN2):c.686-13C>G
|
|
|
|
NM_015374.3(SUN2):c.686-13C>T
|
|
|
|
NM_015374.3(SUN2):c.688G>C (p.Ala230Pro)
|
|
|
|
NM_015374.3(SUN2):c.697T>A (p.Phe233Ile)
|
|
|
|
NM_015374.3(SUN2):c.705C>T (p.Pro235=)
|
|
|
|
NM_015374.3(SUN2):c.736G>A (p.Val246Ile)
|
|
|
|
NM_015374.3(SUN2):c.74G>A (p.Ser25Asn)
|
|
|
|
NM_015374.3(SUN2):c.752C>G (p.Ala251Gly)
|
rs1051031562
|
|
|
NM_015374.3(SUN2):c.752C>T (p.Ala251Val)
|
|
|
|
NM_015374.3(SUN2):c.753G>A (p.Ala251=)
|
|
|
|
NM_015374.3(SUN2):c.771G>A (p.Pro257=)
|
|
|
|
NM_015374.3(SUN2):c.778G>A (p.Gly260Ser)
|
|
|
|
NM_015374.3(SUN2):c.78G>A (p.Ser26=)
|
rs757655044
|
|
|
NM_015374.3(SUN2):c.78G>T (p.Ser26=)
|
|
|
|
NM_015374.3(SUN2):c.791G>A (p.Arg264Lys)
|
rs901495726
|
|
|
NM_015374.3(SUN2):c.799T>C (p.Ser267Pro)
|
|
|
|
NM_015374.3(SUN2):c.801G>A (p.Ser267=)
|
|
|
|
NM_015374.3(SUN2):c.814-17T>G
|
|
|
|
NM_015374.3(SUN2):c.814-4C>G
|
|
|
|
NM_015374.3(SUN2):c.823C>T (p.Arg275Cys)
|
|
|
|
NM_015374.3(SUN2):c.853C>T (p.Arg285Trp)
|
|
|
|
NM_015374.3(SUN2):c.874G>A (p.Ala292Thr)
|
rs2145981465
|
|
|
NM_015374.3(SUN2):c.915G>A (p.Leu305=)
|
rs1189059505
|
|
|
NM_015374.3(SUN2):c.920G>A (p.Arg307His)
|
|
|
|
NM_015374.3(SUN2):c.924G>C (p.Leu308=)
|
|
|
|
NM_015374.3(SUN2):c.929T>C (p.Leu310Pro)
|
|
|
|
NM_015374.3(SUN2):c.92A>G (p.Gln31Arg)
|
|
|
|
NM_015374.3(SUN2):c.952G>A (p.Gly318Arg)
|
rs762660159
|
|
|
NM_015374.3(SUN2):c.976G>A (p.Glu326Lys)
|
|
|
|
NM_015374.3(SUN2):c.988G>C (p.Ala330Pro)
|
|
|
|
NM_015374.3(SUN2):c.989C>T (p.Ala330Val)
|
rs564884199
|
|
|
NM_015374.3(SUN2):c.992T>C (p.Leu331Pro)
|
|
|
|
NM_015374.3(SUN2):c.993G>A (p.Leu331=)
|
|
|
|
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val)
|
rs769793469
|
|
|
NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs)
|
rs2124997454
|
|
|
NM_024334.3(TMEM43):c.1A>G (p.Met1Val)
|
rs757083718
|
|
|
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val)
|
rs766792876
|
|
|
NM_024334.3(TMEM43):c.201dup (p.Leu68fs)
|
|
|
|
NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys)
|
rs397514044
|
|
|
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu)
|
rs771454768
|
|
|
NM_024334.3(TMEM43):c.265G>A (p.Val89Met)
|
rs147319971
|
|
|
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)
|
rs748343919
|
|
|
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly)
|
rs201085402
|
|
|
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp)
|
rs1695096953
|
|
|
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)
|
rs746639451
|
|
|
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln)
|
rs145619906
|
|
|
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)
|
rs1369869806
|
|
|
NM_024334.3(TMEM43):c.749dup (p.Asp251fs)
|
rs1695151947
|
|
|
NM_024334.3(TMEM43):c.760_780+2dup
|
rs1559361931
|
|
|
NM_024334.3(TMEM43):c.884_886del
|
|
|
|
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile)
|
rs990243563
|
|
|
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val)
|
rs1553603462
|
|
|
NM_033071.3(SYNE1):c.17995_17997delGAG
|
|
|
|
NM_033071.3(SYNE1):c.21832-2dup
|
rs35128811
|
|
|
NM_170707.4(LMNA):c.-142C>A
|
rs886045358
|
|
|
NM_170707.4(LMNA):c.-183C>A
|
rs886045357
|
|
|
NM_170707.4(LMNA):c.-5C>A
|
rs886045362
|
|
|
NM_170707.4(LMNA):c.-62C>A
|
rs886045361
|
|
|
NM_170707.4(LMNA):c.-88G>T
|
rs115800510
|
|
|
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)
|
rs1237093879
|
|
|
NM_170707.4(LMNA):c.1016C>T (p.Ala339Val)
|
rs756538414
|
|
|
NM_170707.4(LMNA):c.1034T>C (p.Met345Thr)
|
|
|
|
NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly)
|
rs1449688220
|
|
|
NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln)
|
|
|
|
NM_170707.4(LMNA):c.1068_1075dup (p.Tyr359fs)
|
|
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
|
NM_170707.4(LMNA):c.1122C>G (p.His374Gln)
|
|
|
|
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)
|
rs61672878
|
|
|
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)
|
rs1553265761
|
|
|
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys)
|
rs267607545
|
|
|
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
|
|
|
|
NM_170707.4(LMNA):c.11C>A (p.Pro4Gln)
|
rs267607620
|
|
|
NM_170707.4(LMNA):c.1230G>A (p.Gln410=)
|
rs1651615685
|
|
|
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp)
|
rs267607647
|
|
|
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp)
|
rs966050612
|
|
|
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys)
|
rs766811975
|
|
|
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn)
|
rs1385994420
|
|
|
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg)
|
rs1651629254
|
|
|
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)
|
rs267607618
|
|
|
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
|
rs505058
|
|
|
NM_170707.4(LMNA):c.1340AGG[1] (p.Glu448del)
|
|
|
|
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)
|
rs58436778
|
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
|
NM_170707.4(LMNA):c.1380+1G>A
|
rs267607552
|
|
|
NM_170707.4(LMNA):c.1381-2A>C
|
|
|
|
NM_170707.4(LMNA):c.1381-6C>G
|
rs371635492
|
|
|
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)
|
rs1553265999
|
|
|
NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro)
|
rs267607578
|
|
|
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)
|
rs11575937
|
|
|
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala)
|
rs886042993
|
|
|
NM_170707.4(LMNA):c.1453C>T (p.Pro485Ser)
|
|
|
|
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)
|
rs56699480
|
|
|
NM_170707.4(LMNA):c.1485G>A (p.Val495=)
|
rs1651703234
|
|
|
NM_170707.4(LMNA):c.1499C>T (p.Ala500Val)
|
|
|
|
NM_170707.4(LMNA):c.1520G>A (p.Ser507Asn)
|
|
|
|
NM_170707.4(LMNA):c.1529C>T (p.Thr510Ile)
|
rs879254163
|
|
|
NM_170707.4(LMNA):c.1549_1550del (p.Gln517fs)
|
|
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
|
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)
|
rs1572366516
|
|
|
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)
|
rs57520892
|
|
|
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)
|
rs57629361
|
|
|
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)
|
rs60580541
|
|
|
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro)
|
rs60934003
|
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
|
NM_170707.4(LMNA):c.1608+5G>C
|
rs267607539
|
|
|
NM_170707.4(LMNA):c.1616_1617delinsTT (p.Ala539Val)
|
|
|
|
NM_170707.4(LMNA):c.161C>T (p.Thr54Met)
|
rs879253992
|
|
|
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)
|
rs2102898301
|
|
|
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala)
|
rs1651785654
|
|
|
NM_170707.4(LMNA):c.1659C>T (p.Asp553=)
|
rs748768783
|
|
|
NM_170707.4(LMNA):c.1685T>C (p.Leu562Pro)
|
|
|
|
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)
|
rs2102817952
|
|
|
NM_170707.4(LMNA):c.1698+124C>T
|
rs1057516022
|
|
|
NM_170707.4(LMNA):c.1699-1_1706dup
|
|
|
|
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)
|
rs61046466
|
|
|
NM_170707.4(LMNA):c.1712G>A (p.Ser571Asn)
|
rs1250355311
|
|
|
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)
|
rs918645468
|
|
|
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)
|
rs57830985
|
|
|
NM_170707.4(LMNA):c.1786_1800del (p.Asp596_Ala600del)
|
rs2102901580
|
|
|
NM_170707.4(LMNA):c.1840G>T (p.Gly614Cys)
|
|
|
|
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)
|
rs1553266553
|
|
|
NM_170707.4(LMNA):c.1894A>G (p.Ser632Gly)
|
|
|
|
NM_170707.4(LMNA):c.1901G>A (p.Gly634Asp)
|
rs1470825986
|
|
|
NM_170707.4(LMNA):c.190A>G (p.Thr64Ala)
|
|
|
|
NM_170707.4(LMNA):c.1968+18dup
|
rs554157057
|
|
|
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg)
|
rs1023544978
|
|
|
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)
|
rs59270054
|
|
|
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)
|
rs794728602
|
|
|
NM_170707.4(LMNA):c.266G>C (p.Arg89Pro)
|
rs59040894
|
|
|
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu)
|
rs1445068583
|
|
|
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile)
|
rs1306829976
|
|
|
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser)
|
rs1553262000
|
|
|
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)
|
rs1553262007
|
|
|
NM_170707.4(LMNA):c.326T>A (p.Val109Glu)
|
rs1649740041
|
|
|
NM_170707.4(LMNA):c.356+12C>A
|
rs1649747809
|
|
|
NM_170707.4(LMNA):c.356+5G>A
|
rs1572332952
|
|
|
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu)
|
rs397517902
|
|
|
NM_170707.4(LMNA):c.357-3735G>A
|
|
|
|
NM_170707.4(LMNA):c.394G>T (p.Ala132Ser)
|
|
|
|
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)
|
rs60864230
|
|
|
NM_170707.4(LMNA):c.409C>G (p.Leu137Val)
|
rs747998566
|
|
|
NM_170707.4(LMNA):c.41C>T (p.Ala14Val)
|
|
|
|
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp)
|
rs770799870
|
|
|
NM_170707.4(LMNA):c.483G>A (p.Glu161=)
|
rs1553264647
|
|
|
NM_170707.4(LMNA):c.507G>A (p.Val169=)
|
|
|
|
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu)
|
rs1650991296
|
|
|
NM_170707.4(LMNA):c.513+45T>G
|
rs878853220
|
|
|
NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)
|
|
|
|
NM_170707.4(LMNA):c.5del (p.Glu2fs)
|
|
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
|
NM_170707.4(LMNA):c.610C>G (p.Leu204Val)
|
rs1553265177
|
|
|
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)
|
rs267607540
|
|
|
NM_170707.4(LMNA):c.64T>C (p.Ser22Pro)
|
|
|
|
NM_170707.4(LMNA):c.664C>T (p.His222Tyr)
|
rs28928901
|
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
|
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly)
|
rs773349450
|
|
|
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)
|
rs267607609
|
|
|
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)
|
rs57207746
|
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
|
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn)
|
rs1553265346
|
|
|
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu)
|
rs1558129629
|
|
|
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)
|
rs58048078
|
|
|
NM_170707.4(LMNA):c.787C>A (p.Leu263Met)
|
rs750246389
|
|
|
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
|
rs1651418246
|
|
|
NM_170707.4(LMNA):c.810+1G>C
|
rs267607632
|
|
|
NM_170707.4(LMNA):c.822del (p.Arg275fs)
|
rs2102883169
|
|
|
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)
|
rs886043109
|
|
|
NM_170707.4(LMNA):c.853G>T (p.Val285Leu)
|
rs746056534
|
|
|
NM_170707.4(LMNA):c.867C>A (p.His289Gln)
|
|
|
|
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu)
|
rs1651454980
|
|
|
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu)
|
rs762653476
|
|
|
NM_170707.4(LMNA):c.927C>A (p.Leu309=)
|
rs752558753
|
|
|
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr)
|
rs769498020
|
|
|
NM_170707.4(LMNA):c.957G>C (p.Lys319Asn)
|
|
|
|
NM_170707.4(LMNA):c.960del (p.Arg321fs)
|
rs56771886
|
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
|
NM_170707.4(LMNA):c.983C>T (p.Ala328Val)
|
rs1651545788
|
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|
|
NM_182914.2(SYNE2):c.-209A>T
|
rs886050574
|
|
|
NM_182914.3(SYNE2):c.*145C>A
|
rs886050602
|
|
|
NM_182914.3(SYNE2):c.*149G>C
|
rs886050603
|
|
|
NM_182914.3(SYNE2):c.*219T>G
|
rs886050604
|
|
|
NM_182914.3(SYNE2):c.*300G>A
|
rs79269713
|
|
|
NM_182914.3(SYNE2):c.*359A>C
|
rs886050606
|
|
|
NM_182914.3(SYNE2):c.*507C>A
|
rs187600277
|
|
|
NM_182914.3(SYNE2):c.*521A>G
|
rs2098717089
|
|
|
NM_182914.3(SYNE2):c.*574A>G
|
rs954643801
|
|
|
NM_182914.3(SYNE2):c.*695T>G
|
rs886050608
|
|
|
NM_182914.3(SYNE2):c.*732G>A
|
rs886050609
|
|
|
NM_182914.3(SYNE2):c.*819G>A
|
rs1300953935
|
|
|
NM_182914.3(SYNE2):c.*820T>G
|
rs941392635
|
|
|
NM_182914.3(SYNE2):c.*824G>A
|
rs2098718315
|
|
|
NM_182914.3(SYNE2):c.-149G>A
|
rs926052381
|
|
|
NM_182914.3(SYNE2):c.-52+9G>A
|
rs535493323
|
|
|
NM_182914.3(SYNE2):c.-52G>A
|
rs1393089319
|
|
|
NM_182914.3(SYNE2):c.10016A>G (p.Lys3339Arg)
|
|
|
|
NM_182914.3(SYNE2):c.10029G>A (p.Met3343Ile)
|
|
|
|
NM_182914.3(SYNE2):c.10031A>C (p.Lys3344Thr)
|
|
|
|
NM_182914.3(SYNE2):c.10046C>T (p.Ala3349Val)
|
|
|
|
NM_182914.3(SYNE2):c.10051G>A (p.Glu3351Lys)
|
|
|
|
NM_182914.3(SYNE2):c.10065A>G (p.Glu3355=)
|
|
|
|
NM_182914.3(SYNE2):c.10067+13C>T
|
|
|
|
NM_182914.3(SYNE2):c.10067+3A>G
|
|
|
|
NM_182914.3(SYNE2):c.10067+6T>C
|
|
|
|
NM_182914.3(SYNE2):c.10067+9T>G
|
|
|
|
NM_182914.3(SYNE2):c.10068-19T>C
|
|
|
|
NM_182914.3(SYNE2):c.10070A>G (p.Tyr3357Cys)
|
rs1034591406
|
|
|
NM_182914.3(SYNE2):c.1008G>T (p.Met336Ile)
|
|
|
|
NM_182914.3(SYNE2):c.10090T>G (p.Tyr3364Asp)
|
|
|
|
NM_182914.3(SYNE2):c.10116C>T (p.Tyr3372=)
|
rs757890554
|
|
|
NM_182914.3(SYNE2):c.1011G>A (p.Glu337=)
|
|
|
|
NM_182914.3(SYNE2):c.10130A>G (p.Lys3377Arg)
|
rs1182521156
|
|
|
NM_182914.3(SYNE2):c.10139C>T (p.Thr3380Ile)
|
|
|
|
NM_182914.3(SYNE2):c.10140A>G (p.Thr3380=)
|
|
|
|
NM_182914.3(SYNE2):c.10194G>A (p.Glu3398=)
|
|
|
|
NM_182914.3(SYNE2):c.1019A>G (p.Asn340Ser)
|
|
|
|
NM_182914.3(SYNE2):c.10212+20G>A
|
rs200261434
|
|
|
NM_182914.3(SYNE2):c.10233A>G (p.Ile3411Met)
|
rs751265049
|
|
|
NM_182914.3(SYNE2):c.10242A>C (p.Lys3414Asn)
|
rs2153592645
|
|
|
NM_182914.3(SYNE2):c.10246G>A (p.Glu3416Lys)
|
|
|
|
NM_182914.3(SYNE2):c.10252A>G (p.Met3418Val)
|
|
|
|
NM_182914.3(SYNE2):c.10262G>A (p.Arg3421Gln)
|
|
|
|
NM_182914.3(SYNE2):c.10267A>T (p.Ile3423Phe)
|
rs779367486
|
|
|
NM_182914.3(SYNE2):c.10294A>C (p.Thr3432Pro)
|
|
|
|
NM_182914.3(SYNE2):c.10310T>C (p.Ile3437Thr)
|
|
|
|
NM_182914.3(SYNE2):c.10327G>T (p.Val3443Leu)
|
rs564182126
|
|
|
NM_182914.3(SYNE2):c.10329G>A (p.Val3443=)
|
rs773990537
|
|
|
NM_182914.3(SYNE2):c.1032G>A (p.Lys344=)
|
|
|
|
NM_182914.3(SYNE2):c.10348T>C (p.Trp3450Arg)
|
rs375398029
|
|
|
NM_182914.3(SYNE2):c.10348T>G (p.Trp3450Gly)
|
rs375398029
|
|
|
NM_182914.3(SYNE2):c.10355G>A (p.Ser3452Asn)
|
|
|
|
NM_182914.3(SYNE2):c.10367C>A (p.Ala3456Asp)
|
rs1423700005
|
|
|
NM_182914.3(SYNE2):c.10370C>T (p.Ala3457Val)
|
rs2153592805
|
|
|
NM_182914.3(SYNE2):c.10372A>G (p.Lys3458Glu)
|
rs1464529475
|
|
|
NM_182914.3(SYNE2):c.10378T>C (p.Trp3460Arg)
|
rs1369723578
|
|
|
NM_182914.3(SYNE2):c.10401G>A (p.Leu3467=)
|
|
|
|
NM_182914.3(SYNE2):c.10427A>G (p.Glu3476Gly)
|
rs866558509
|
|
|
NM_182914.3(SYNE2):c.10431+11C>T
|
|
|
|
NM_182914.3(SYNE2):c.10431+12A>G
|
rs2097353282
|
|
|
NM_182914.3(SYNE2):c.10431+19A>G
|
|
|
|
NM_182914.3(SYNE2):c.10431+4A>C
|
|
|
|
NM_182914.3(SYNE2):c.10431+6T>A
|
rs2097353192
|
|
|
NM_182914.3(SYNE2):c.10431A>G (p.Glu3477=)
|
|
|
|
NM_182914.3(SYNE2):c.10432-7G>C
|
|
|
|
NM_182914.3(SYNE2):c.10432-7G>T
|
rs749169072
|
|
|
NM_182914.3(SYNE2):c.10442A>G (p.Glu3481Gly)
|
|
|
|
NM_182914.3(SYNE2):c.10447A>G (p.Ile3483Val)
|
|
|
|
NM_182914.3(SYNE2):c.10480G>C (p.Glu3494Gln)
|
rs752056288
|
|
|
NM_182914.3(SYNE2):c.10482A>G (p.Glu3494=)
|
|
|
|
NM_182914.3(SYNE2):c.10490A>G (p.Lys3497Arg)
|
rs2153599582
|
|
|
NM_182914.3(SYNE2):c.10490A>T (p.Lys3497Ile)
|
|
|
|
NM_182914.3(SYNE2):c.10502C>T (p.Ala3501Val)
|
rs1042324901
|
|
|
NM_182914.3(SYNE2):c.10508C>T (p.Thr3503Ile)
|
rs1567208804
|
|
|
NM_182914.3(SYNE2):c.10515G>A (p.Glu3505=)
|
|
|
|
NM_182914.3(SYNE2):c.10516_10517insTG (p.Glu3506fs)
|
|
|
|
NM_182914.3(SYNE2):c.10523C>T (p.Ser3508Phe)
|
|
|
|
NM_182914.3(SYNE2):c.10552G>A (p.Gly3518Arg)
|
rs1555462898
|
|
|
NM_182914.3(SYNE2):c.1055T>C (p.Ile352Thr)
|
|
|
|
NM_182914.3(SYNE2):c.10560C>T (p.Asn3520=)
|
|
|
|
NM_182914.3(SYNE2):c.10566G>T (p.Glu3522Asp)
|
|
|
|
NM_182914.3(SYNE2):c.10578G>A (p.Leu3526=)
|
|
|
|
NM_182914.3(SYNE2):c.10583T>C (p.Leu3528Pro)
|
|
|
|
NM_182914.3(SYNE2):c.10588C>G (p.Leu3530Val)
|
|
|
|
NM_182914.3(SYNE2):c.10598A>G (p.Gln3533Arg)
|
rs2153599656
|
|
|
NM_182914.3(SYNE2):c.10601G>A (p.Arg3534His)
|
|
|
|
NM_182914.3(SYNE2):c.10610G>T (p.Ser3537Ile)
|
rs2097400006
|
|
|
NM_182914.3(SYNE2):c.10636G>C (p.Gly3546Arg)
|
|
|
|
NM_182914.3(SYNE2):c.10638G>T (p.Gly3546=)
|
rs201834981
|
|
|
NM_182914.3(SYNE2):c.10639G>A (p.Ala3547Thr)
|
|
|
|
NM_182914.3(SYNE2):c.10645G>A (p.Glu3549Lys)
|
|
|
|
NM_182914.3(SYNE2):c.10669A>T (p.Ile3557Phe)
|
rs2097400485
|
|
|
NM_182914.3(SYNE2):c.1067T>C (p.Leu356Pro)
|
|
|
|
NM_182914.3(SYNE2):c.10686A>G (p.Glu3562=)
|
rs2153599710
|
|
|
NM_182914.3(SYNE2):c.10688G>A (p.Arg3563Gln)
|
|
|
|
NM_182914.3(SYNE2):c.10697+10A>T
|
|
|
|
NM_182914.3(SYNE2):c.10697+4_10697+10del
|
rs1430702045
|
|
|
NM_182914.3(SYNE2):c.10697+6A>G
|
|
|
|
NM_182914.3(SYNE2):c.10698-12G>A
|
|
|
|
NM_182914.3(SYNE2):c.10698-13C>T
|
|
|
|
NM_182914.3(SYNE2):c.10711G>C (p.Val3571Leu)
|
rs2097435549
|
|
|
NM_182914.3(SYNE2):c.10724A>C (p.Lys3575Thr)
|
|
|
|
NM_182914.3(SYNE2):c.10740T>C (p.Thr3580=)
|
|
|
|
NM_182914.3(SYNE2):c.10760C>G (p.Ser3587Cys)
|
|
|
|
NM_182914.3(SYNE2):c.10763T>G (p.Phe3588Cys)
|
|
|
|
NM_182914.3(SYNE2):c.10782T>G (p.Ala3594=)
|
rs1595337089
|
|
|
NM_182914.3(SYNE2):c.10807A>G (p.Thr3603Ala)
|
|
|
|
NM_182914.3(SYNE2):c.10809_10811del (p.Thr3604del)
|
|
|
|
NM_182914.3(SYNE2):c.10838A>G (p.Asp3613Gly)
|
|
|
|
NM_182914.3(SYNE2):c.1084G>T (p.Asp362Tyr)
|
rs2153454333
|
|
|
NM_182914.3(SYNE2):c.10864G>T (p.Glu3622Ter)
|
rs374132878
|
|
|
NM_182914.3(SYNE2):c.10866+14G>A
|
rs2153603601
|
|
|
NM_182914.3(SYNE2):c.10875A>G (p.Gln3625=)
|
|
|
|
NM_182914.3(SYNE2):c.10881C>T (p.Ile3627=)
|
rs750125057
|
|
|
NM_182914.3(SYNE2):c.10910A>C (p.Asn3637Thr)
|
|
|
|
NM_182914.3(SYNE2):c.10924C>A (p.Leu3642Met)
|
rs1595351833
|
|
|
NM_182914.3(SYNE2):c.10928G>A (p.Arg3643Gln)
|
rs748433814
|
|
|
NM_182914.3(SYNE2):c.10935G>C (p.Lys3645Asn)
|
|
|
|
NM_182914.3(SYNE2):c.10941C>T (p.Ser3647=)
|
|
|
|
NM_182914.3(SYNE2):c.10942G>T (p.Glu3648Ter)
|
|
|
|
NM_182914.3(SYNE2):c.10945A>G (p.Met3649Val)
|
|
|
|
NM_182914.3(SYNE2):c.10948T>C (p.Tyr3650His)
|
|
|
|
NM_182914.3(SYNE2):c.1094A>T (p.Gln365Leu)
|
|
|
|
NM_182914.3(SYNE2):c.10974A>G (p.Glu3658=)
|
|
|
|
NM_182914.3(SYNE2):c.10976C>T (p.Ser3659Phe)
|
|
|
|
NM_182914.3(SYNE2):c.10987G>T (p.Glu3663Ter)
|
rs2153606081
|
|
|
NM_182914.3(SYNE2):c.10990T>A (p.Cys3664Ser)
|
rs372299859
|
|
|
NM_182914.3(SYNE2):c.10991G>A (p.Cys3664Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.11011A>G (p.Ile3671Val)
|
|
|
|
NM_182914.3(SYNE2):c.11016T>C (p.Asp3672=)
|
rs886050584
|
|
|
NM_182914.3(SYNE2):c.11022+4A>G
|
|
|
|
NM_182914.3(SYNE2):c.11023-13G>C
|
|
|
|
NM_182914.3(SYNE2):c.11023-14T>C
|
rs2097488518
|
|
|
NM_182914.3(SYNE2):c.11023-19G>A
|
|
|
|
NM_182914.3(SYNE2):c.11023-20C>T
|
|
|
|
NM_182914.3(SYNE2):c.11023A>T (p.Ile3675Phe)
|
|
|
|
NM_182914.3(SYNE2):c.11043A>C (p.Lys3681Asn)
|
|
|
|
NM_182914.3(SYNE2):c.11103T>C (p.Asn3701=)
|
rs369232223
|
|
|
NM_182914.3(SYNE2):c.1111G>T (p.Asp371Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.11138T>G (p.Ile3713Ser)
|
rs201740276
|
|
|
NM_182914.3(SYNE2):c.11139T>G (p.Ile3713Met)
|
rs755177395
|
|
|
NM_182914.3(SYNE2):c.11157_11163+7del
|
rs2097489968
|
|
|
NM_182914.3(SYNE2):c.11159A>G (p.Gln3720Arg)
|
|
|
|
NM_182914.3(SYNE2):c.11163G>A (p.Lys3721=)
|
rs2153609576
|
|
|
NM_182914.3(SYNE2):c.11164-19T>G
|
|
|
|
NM_182914.3(SYNE2):c.11168T>C (p.Met3723Thr)
|
|
|
|
NM_182914.3(SYNE2):c.1117C>G (p.Leu373Val)
|
|
|
|
NM_182914.3(SYNE2):c.11182G>A (p.Asp3728Asn)
|
rs2097511455
|
|
|
NM_182914.3(SYNE2):c.11187A>G (p.Leu3729=)
|
rs202139207
|
|
|
NM_182914.3(SYNE2):c.11239C>G (p.Gln3747Glu)
|
|
|
|
NM_182914.3(SYNE2):c.11246C>T (p.Pro3749Leu)
|
|
|
|
NM_182914.3(SYNE2):c.11255C>G (p.Ala3752Gly)
|
rs1435842315
|
|
|
NM_182914.3(SYNE2):c.11259A>C (p.Gln3753His)
|
rs1226574131
|
|
|
NM_182914.3(SYNE2):c.11261A>G (p.Glu3754Gly)
|
|
|
|
NM_182914.3(SYNE2):c.1128+10T>C
|
rs2096415870
|
|
|
NM_182914.3(SYNE2):c.1128+19T>G
|
|
|
|
NM_182914.3(SYNE2):c.1129-3C>A
|
|
|
|
NM_182914.3(SYNE2):c.1129-4_1129-3del
|
rs886050578
|
|
|
NM_182914.3(SYNE2):c.1129-5T>C
|
|
|
|
NM_182914.3(SYNE2):c.11297A>G (p.Tyr3766Cys)
|
rs2097512603
|
|
|
NM_182914.3(SYNE2):c.11324G>A (p.Cys3775Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.11325T>C (p.Cys3775=)
|
|
|
|
NM_182914.3(SYNE2):c.11327G>A (p.Arg3776Lys)
|
|
|
|
NM_182914.3(SYNE2):c.1133A>G (p.Asn378Ser)
|
|
|
|
NM_182914.3(SYNE2):c.11340G>A (p.Leu3780=)
|
|
|
|
NM_182914.3(SYNE2):c.11342A>G (p.Asn3781Ser)
|
rs746603645
|
|
|
NM_182914.3(SYNE2):c.11346+12A>T
|
|
|
|
NM_182914.3(SYNE2):c.11346+14T>G
|
|
|
|
NM_182914.3(SYNE2):c.11346+16G>A
|
|
|
|
NM_182914.3(SYNE2):c.11346+4T>A
|
rs1039538127
|
|
|
NM_182914.3(SYNE2):c.11346+6G>A
|
|
|
|
NM_182914.3(SYNE2):c.11347-14C>T
|
rs1208369187
|
|
|
NM_182914.3(SYNE2):c.11347-6del
|
|
|
|
NM_182914.3(SYNE2):c.11367A>C (p.Glu3789Asp)
|
rs762999027
|
|
|
NM_182914.3(SYNE2):c.11376C>T (p.Asp3792=)
|
|
|
|
NM_182914.3(SYNE2):c.11390C>T (p.Thr3797Ile)
|
|
|
|
NM_182914.3(SYNE2):c.113C>T (p.Thr38Met)
|
|
|
|
NM_182914.3(SYNE2):c.11410A>G (p.Thr3804Ala)
|
|
|
|
NM_182914.3(SYNE2):c.11411C>T (p.Thr3804Ile)
|
|
|
|
NM_182914.3(SYNE2):c.11422C>T (p.Leu3808=)
|
rs2153612993
|
|
|
NM_182914.3(SYNE2):c.11446T>C (p.Ser3816Pro)
|
|
|
|
NM_182914.3(SYNE2):c.11462G>A (p.Ser3821Asn)
|
rs1555469449
|
|
|
NM_182914.3(SYNE2):c.11478T>G (p.Thr3826=)
|
rs2153613027
|
|
|
NM_182914.3(SYNE2):c.11484+1G>T
|
|
|
|
NM_182914.3(SYNE2):c.11490T>C (p.Ala3830=)
|
rs2153622100
|
|
|
NM_182914.3(SYNE2):c.11498del (p.Asp3833fs)
|
|
|
|
NM_182914.3(SYNE2):c.114G>A (p.Thr38=)
|
rs369020126
|
|
|
NM_182914.3(SYNE2):c.114G>T (p.Thr38=)
|
rs369020126
|
|
|
NM_182914.3(SYNE2):c.11531T>A (p.Ile3844Asn)
|
rs566279122
|
|
|
NM_182914.3(SYNE2):c.11535T>A (p.Phe3845Leu)
|
|
|
|
NM_182914.3(SYNE2):c.11545G>A (p.Glu3849Lys)
|
|
|
|
NM_182914.3(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly)
|
rs1555473349
|
|
|
NM_182914.3(SYNE2):c.11550C>A (p.Asp3850Glu)
|
rs146261323
|
|
|
NM_182914.3(SYNE2):c.11550C>T (p.Asp3850=)
|
rs146261323
|
|
|
NM_182914.3(SYNE2):c.11557A>G (p.Ile3853Val)
|
|
|
|
NM_182914.3(SYNE2):c.11566G>C (p.Glu3856Gln)
|
|
|
|
NM_182914.3(SYNE2):c.11589del (p.Ile3864fs)
|
rs1172418857
|
|
|
NM_182914.3(SYNE2):c.1158T>C (p.Tyr386=)
|
|
|
|
NM_182914.3(SYNE2):c.11592A>G (p.Ile3864Met)
|
|
|
|
NM_182914.3(SYNE2):c.11608C>G (p.Gln3870Glu)
|
|
|
|
NM_182914.3(SYNE2):c.11609A>G (p.Gln3870Arg)
|
|
|
|
NM_182914.3(SYNE2):c.11615C>T (p.Thr3872Ile)
|
rs1595432634
|
|
|
NM_182914.3(SYNE2):c.11637G>C (p.Met3879Ile)
|
|
|
|
NM_182914.3(SYNE2):c.11641A>T (p.Ser3881Cys)
|
rs2153622293
|
|
|
NM_182914.3(SYNE2):c.11645_11647dup (p.Leu3882dup)
|
rs2153622305
|
|
|
NM_182914.3(SYNE2):c.11650C>G (p.Gln3884Glu)
|
|
|
|
NM_182914.3(SYNE2):c.11652G>T (p.Gln3884His)
|
rs2097575346
|
|
|
NM_182914.3(SYNE2):c.11671-13_11671-11del
|
|
|
|
NM_182914.3(SYNE2):c.11671-15C>T
|
|
|
|
NM_182914.3(SYNE2):c.1167C>T (p.Pro389=)
|
|
|
|
NM_182914.3(SYNE2):c.1168C>T (p.Pro390Ser)
|
|
|
|
NM_182914.3(SYNE2):c.11704A>C (p.Met3902Leu)
|
|
|
|
NM_182914.3(SYNE2):c.11704A>G (p.Met3902Val)
|
rs909725905
|
|
|
NM_182914.3(SYNE2):c.1171C>A (p.Pro391Thr)
|
|
|
|
NM_182914.3(SYNE2):c.11729A>G (p.Lys3910Arg)
|
rs142616444
|
|
|
NM_182914.3(SYNE2):c.11729A>T (p.Lys3910Ile)
|
rs142616444
|
|
|
NM_182914.3(SYNE2):c.11760T>C (p.Asp3920=)
|
|
|
|
NM_182914.3(SYNE2):c.1177C>T (p.His393Tyr)
|
rs2096545410
|
|
|
NM_182914.3(SYNE2):c.11793+10G>A
|
|
|
|
NM_182914.3(SYNE2):c.11794-14C>T
|
|
|
|
NM_182914.3(SYNE2):c.11794-9A>G
|
|
|
|
NM_182914.3(SYNE2):c.11798T>C (p.Ile3933Thr)
|
rs752738016
|
|
|
NM_182914.3(SYNE2):c.11807A>G (p.Asn3936Ser)
|
|
|
|
NM_182914.3(SYNE2):c.11812C>T (p.Arg3938Cys)
|
|
|
|
NM_182914.3(SYNE2):c.11813G>A (p.Arg3938His)
|
|
|
|
NM_182914.3(SYNE2):c.11834C>T (p.Ala3945Val)
|
rs756937805
|
|
|
NM_182914.3(SYNE2):c.11854G>A (p.Val3952Met)
|
rs758155150
|
|
|
NM_182914.3(SYNE2):c.11855T>A (p.Val3952Glu)
|
|
|
|
NM_182914.3(SYNE2):c.11868G>A (p.Leu3956=)
|
|
|
|
NM_182914.3(SYNE2):c.1186G>T (p.Glu396Ter)
|
rs1405666656
|
|
|
NM_182914.3(SYNE2):c.11873A>G (p.Gln3958Arg)
|
|
|
|
NM_182914.3(SYNE2):c.11876C>G (p.Thr3959Arg)
|
|
|
|
NM_182914.3(SYNE2):c.11881A>C (p.Met3961Leu)
|
|
|
|
NM_182914.3(SYNE2):c.11900T>G (p.Phe3967Cys)
|
rs1567266829
|
|
|
NM_182914.3(SYNE2):c.11911A>G (p.Asn3971Asp)
|
|
|
|
NM_182914.3(SYNE2):c.11930_11932dup (p.Ile3977_Lys3978insIle)
|
|
|
|
NM_182914.3(SYNE2):c.11931A>G (p.Ile3977Met)
|
rs1316072697
|
|
|
NM_182914.3(SYNE2):c.11935C>T (p.Leu3979=)
|
rs76576553
|
|
|
NM_182914.3(SYNE2):c.11941G>A (p.Glu3981Lys)
|
|
|
|
NM_182914.3(SYNE2):c.11944A>C (p.Asn3982His)
|
rs10137972
|
|
|
NM_182914.3(SYNE2):c.11944A>G (p.Asn3982Asp)
|
rs10137972
|
|
|
NM_182914.3(SYNE2):c.11950A>T (p.Thr3984Ser)
|
|
|
|
NM_182914.3(SYNE2):c.11976+5G>A
|
rs772490248
|
|
|
NM_182914.3(SYNE2):c.11977-18G>A
|
|
|
|
NM_182914.3(SYNE2):c.11977-20T>C
|
|
|
|
NM_182914.3(SYNE2):c.11977-4A>G
|
|
|
|
NM_182914.3(SYNE2):c.11993C>T (p.Thr3998Ile)
|
rs886050585
|
|
|
NM_182914.3(SYNE2):c.11996A>G (p.Asn3999Ser)
|
rs1232744942
|
|
|
NM_182914.3(SYNE2):c.12001_12002delinsGT (p.Trp4001Val)
|
|
|
|
NM_182914.3(SYNE2):c.12001_12002inv (p.Trp4001Gln)
|
|
|
|
NM_182914.3(SYNE2):c.12014T>C (p.Ile4005Thr)
|
|
|
|
NM_182914.3(SYNE2):c.12037A>T (p.Asn4013Tyr)
|
rs1555478028
|
|
|
NM_182914.3(SYNE2):c.12057C>A (p.Phe4019Leu)
|
|
|
|
NM_182914.3(SYNE2):c.12061C>T (p.Leu4021Phe)
|
|
|
|
NM_182914.3(SYNE2):c.12064G>A (p.Glu4022Lys)
|
rs886050586
|
|
|
NM_182914.3(SYNE2):c.12066A>G (p.Glu4022=)
|
rs755552590
|
|
|
NM_182914.3(SYNE2):c.12077C>G (p.Pro4026Arg)
|
rs1009708251
|
|
|
NM_182914.3(SYNE2):c.12089_12096dup (p.Pro4033fs)
|
|
|
|
NM_182914.3(SYNE2):c.12096G>A (p.Leu4032=)
|
|
|
|
NM_182914.3(SYNE2):c.1209A>C (p.Glu403Asp)
|
|
|
|
NM_182914.3(SYNE2):c.12103C>G (p.Leu4035Val)
|
rs1395737115
|
|
|
NM_182914.3(SYNE2):c.12108+10_12108+32dup
|
rs1333520524
|
|
|
NM_182914.3(SYNE2):c.12108+18A>G
|
|
|
|
NM_182914.3(SYNE2):c.12109-10_12109-7del
|
rs755277543
|
|
|
NM_182914.3(SYNE2):c.12117C>T (p.Ile4039=)
|
|
|
|
NM_182914.3(SYNE2):c.12125T>C (p.Met4042Thr)
|
rs2097691016
|
|
|
NM_182914.3(SYNE2):c.12167T>G (p.Leu4056Arg)
|
rs2153635602
|
|
|
NM_182914.3(SYNE2):c.12171G>T (p.Leu4057Phe)
|
|
|
|
NM_182914.3(SYNE2):c.12186C>T (p.Ala4062=)
|
rs1037442946
|
|
|
NM_182914.3(SYNE2):c.12198C>T (p.Asn4066=)
|
|
|
|
NM_182914.3(SYNE2):c.12209A>G (p.His4070Arg)
|
rs2153635653
|
|
|
NM_182914.3(SYNE2):c.12215A>G (p.Lys4072Arg)
|
|
|
|
NM_182914.3(SYNE2):c.12224AAG[1] (p.Glu4076del)
|
rs748493867
|
|
|
NM_182914.3(SYNE2):c.12226G>A (p.Glu4076Lys)
|
rs1567288490
|
|
|
NM_182914.3(SYNE2):c.12229G>A (p.Gly4077Arg)
|
|
|
|
NM_182914.3(SYNE2):c.12239G>A (p.Arg4080Lys)
|
rs886042419
|
|
|
NM_182914.3(SYNE2):c.12243T>A (p.Asp4081Glu)
|
|
|
|
NM_182914.3(SYNE2):c.12244A>G (p.Arg4082Gly)
|
|
|
|
NM_182914.3(SYNE2):c.12253G>A (p.Ala4085Thr)
|
rs772564360
|
|
|
NM_182914.3(SYNE2):c.12254C>T (p.Ala4085Val)
|
rs2153635686
|
|
|
NM_182914.3(SYNE2):c.12274G>A (p.Gly4092Arg)
|
|
|
|
NM_182914.3(SYNE2):c.12287G>A (p.Arg4096Lys)
|
|
|
|
NM_182914.3(SYNE2):c.12295T>C (p.Ser4099Pro)
|
|
|
|
NM_182914.3(SYNE2):c.12299A>C (p.Glu4100Ala)
|
rs779963258
|
|
|
NM_182914.3(SYNE2):c.12299A>T (p.Glu4100Val)
|
|
|
|
NM_182914.3(SYNE2):c.12301C>T (p.Arg4101Trp)
|
|
|
|
NM_182914.3(SYNE2):c.12306+12T>G
|
|
|
|
NM_182914.3(SYNE2):c.12307-11G>A
|
|
|
|
NM_182914.3(SYNE2):c.12307-12T>A
|
|
|
|
NM_182914.3(SYNE2):c.12307-13C>T
|
|
|
|
NM_182914.3(SYNE2):c.12307-16G>C
|
|
|
|
NM_182914.3(SYNE2):c.12307-2A>G
|
|
|
|
NM_182914.3(SYNE2):c.1230G>A (p.Leu410=)
|
|
|
|
NM_182914.3(SYNE2):c.12311A>C (p.Asn4104Thr)
|
rs886050587
|
|
|
NM_182914.3(SYNE2):c.12314G>A (p.Arg4105Lys)
|
rs2097697463
|
|
|
NM_182914.3(SYNE2):c.12320G>C (p.Gly4107Ala)
|
|
|
|
NM_182914.3(SYNE2):c.12323C>T (p.Ser4108Phe)
|
|
|
|
NM_182914.3(SYNE2):c.12325A>G (p.Met4109Val)
|
rs1296085055
|
|
|
NM_182914.3(SYNE2):c.12350A>G (p.Glu4117Gly)
|
|
|
|
NM_182914.3(SYNE2):c.12356T>G (p.Val4119Gly)
|
rs932903871
|
|
|
NM_182914.3(SYNE2):c.12369C>T (p.Ser4123=)
|
|
|
|
NM_182914.3(SYNE2):c.12370G>A (p.Val4124Met)
|
rs370255444
|
|
|
NM_182914.3(SYNE2):c.12381+18C>G
|
rs770009960
|
|
|
NM_182914.3(SYNE2):c.12381+3A>G
|
|
|
|
NM_182914.3(SYNE2):c.12382-14G>A
|
|
|
|
NM_182914.3(SYNE2):c.12382-14G>T
|
rs77622144
|
|
|
NM_182914.3(SYNE2):c.12382-17A>G
|
|
|
|
NM_182914.3(SYNE2):c.12382-4del
|
|
|
|
NM_182914.3(SYNE2):c.1238C>A (p.Ser413Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.12397G>C (p.Ala4133Pro)
|
rs758104840
|
|
|
NM_182914.3(SYNE2):c.12408G>A (p.Ser4136=)
|
|
|
|
NM_182914.3(SYNE2):c.1240C>T (p.Gln414Ter)
|
|
|
|
NM_182914.3(SYNE2):c.12413A>T (p.Gln4138Leu)
|
|
|
|
NM_182914.3(SYNE2):c.12424T>A (p.Ser4142Thr)
|
|
|
|
NM_182914.3(SYNE2):c.12445G>T (p.Asp4149Tyr)
|
rs1555485325
|
|
|
NM_182914.3(SYNE2):c.12457G>C (p.Asp4153His)
|
rs1595531126
|
|
|
NM_182914.3(SYNE2):c.12470C>T (p.Ser4157Leu)
|
rs1567303775
|
|
|
NM_182914.3(SYNE2):c.12475T>C (p.Ser4159Pro)
|
|
|
|
NM_182914.3(SYNE2):c.1247A>T (p.His416Leu)
|
|
|
|
NM_182914.3(SYNE2):c.12485T>C (p.Ile4162Thr)
|
|
|
|
NM_182914.3(SYNE2):c.1248C>G (p.His416Gln)
|
|
|
|
NM_182914.3(SYNE2):c.12490C>G (p.Gln4164Glu)
|
|
|
|
NM_182914.3(SYNE2):c.12492+13G>A
|
|
|
|
NM_182914.3(SYNE2):c.12492+13_12492+14dup
|
|
|
|
NM_182914.3(SYNE2):c.12492+9G>A
|
rs765088214
|
|
|
NM_182914.3(SYNE2):c.124A>G (p.Asn42Asp)
|
|
|
|
NM_182914.3(SYNE2):c.12501T>C (p.Tyr4167=)
|
|
|
|
NM_182914.3(SYNE2):c.12508A>G (p.Ile4170Val)
|
rs2153650321
|
|
|
NM_182914.3(SYNE2):c.1253A>T (p.Gln418Leu)
|
|
|
|
NM_182914.3(SYNE2):c.1255G>A (p.Ala419Thr)
|
|
|
|
NM_182914.3(SYNE2):c.12569A>C (p.Gln4190Pro)
|
rs1178890933
|
|
|
NM_182914.3(SYNE2):c.12603A>G (p.Thr4201=)
|
rs1324146518
|
|
|
NM_182914.3(SYNE2):c.12609+14G>A
|
|
|
|
NM_182914.3(SYNE2):c.12609+1G>T
|
rs745516407
|
|
|
NM_182914.3(SYNE2):c.12609+5G>T
|
|
|
|
NM_182914.3(SYNE2):c.12610-15T>C
|
|
|
|
NM_182914.3(SYNE2):c.12610-4T>G
|
rs1265912294
|
|
|
NM_182914.3(SYNE2):c.12610G>T (p.Gly4204Cys)
|
rs886050588
|
|
|
NM_182914.3(SYNE2):c.12613A>C (p.Thr4205Pro)
|
rs1421677072
|
|
|
NM_182914.3(SYNE2):c.12619C>T (p.Pro4207Ser)
|
|
|
|
NM_182914.3(SYNE2):c.12620C>T (p.Pro4207Leu)
|
|
|
|
NM_182914.3(SYNE2):c.12623C>T (p.Pro4208Leu)
|
|
|
|
NM_182914.3(SYNE2):c.12625A>G (p.Ile4209Val)
|
|
|
|
NM_182914.3(SYNE2):c.12637A>C (p.Thr4213Pro)
|
rs886050589
|
|
|
NM_182914.3(SYNE2):c.12639T>G (p.Thr4213=)
|
rs908687663
|
|
|
NM_182914.3(SYNE2):c.12647C>G (p.Ser4216Cys)
|
|
|
|
NM_182914.3(SYNE2):c.12654C>T (p.Asp4218=)
|
|
|
|
NM_182914.3(SYNE2):c.12655G>C (p.Ala4219Pro)
|
rs138644399
|
|
|
NM_182914.3(SYNE2):c.12662G>A (p.Gly4221Glu)
|
|
|
|
NM_182914.3(SYNE2):c.1269A>G (p.Ile423Met)
|
|
|
|
NM_182914.3(SYNE2):c.12703A>G (p.Thr4235Ala)
|
rs2153657597
|
|
|
NM_182914.3(SYNE2):c.12716A>G (p.His4239Arg)
|
|
|
|
NM_182914.3(SYNE2):c.12726G>T (p.Lys4242Asn)
|
|
|
|
NM_182914.3(SYNE2):c.12735G>A (p.Val4245=)
|
|
|
|
NM_182914.3(SYNE2):c.12742C>G (p.Leu4248Val)
|
|
|
|
NM_182914.3(SYNE2):c.12747G>T (p.Glu4249Asp)
|
|
|
|
NM_182914.3(SYNE2):c.12754C>T (p.Leu4252=)
|
|
|
|
NM_182914.3(SYNE2):c.12757C>G (p.Gln4253Glu)
|
|
|
|
NM_182914.3(SYNE2):c.12759A>G (p.Gln4253=)
|
|
|
|
NM_182914.3(SYNE2):c.12764C>T (p.Ala4255Val)
|
|
|
|
NM_182914.3(SYNE2):c.12766A>C (p.Asn4256His)
|
|
|
|
NM_182914.3(SYNE2):c.12768C>T (p.Asn4256=)
|
|
|
|
NM_182914.3(SYNE2):c.1276A>G (p.Lys426Glu)
|
|
|
|
NM_182914.3(SYNE2):c.12776T>C (p.Val4259Ala)
|
|
|
|
NM_182914.3(SYNE2):c.12787A>T (p.Thr4263Ser)
|
|
|
|
NM_182914.3(SYNE2):c.12799G>A (p.Asp4267Asn)
|
rs1274566063
|
|
|
NM_182914.3(SYNE2):c.12811G>A (p.Val4271Met)
|
|
|
|
NM_182914.3(SYNE2):c.12840+12A>G
|
rs886050591
|
|
|
NM_182914.3(SYNE2):c.12840+1G>A
|
rs2097829846
|
|
|
NM_182914.3(SYNE2):c.12844A>T (p.Met4282Leu)
|
|
|
|
NM_182914.3(SYNE2):c.12849A>T (p.Leu4283=)
|
|
|
|
NM_182914.3(SYNE2):c.12873C>G (p.Ala4291=)
|
|
|
|
NM_182914.3(SYNE2):c.12905T>G (p.Leu4302Arg)
|
|
|
|
NM_182914.3(SYNE2):c.1293+18A>G
|
|
|
|
NM_182914.3(SYNE2):c.1293+18dup
|
|
|
|
NM_182914.3(SYNE2):c.1294-15T>C
|
|
|
|
NM_182914.3(SYNE2):c.1294-17G>A
|
|
|
|
NM_182914.3(SYNE2):c.1294-18T>C
|
|
|
|
NM_182914.3(SYNE2):c.1294-3C>T
|
|
|
|
NM_182914.3(SYNE2):c.12964G>T (p.Val4322Leu)
|
|
|
|
NM_182914.3(SYNE2):c.12965T>C (p.Val4322Ala)
|
|
|
|
NM_182914.3(SYNE2):c.12966G>A (p.Val4322=)
|
|
|
|
NM_182914.3(SYNE2):c.129A>T (p.Ser43=)
|
|
|
|
NM_182914.3(SYNE2):c.13001A>G (p.Gln4334Arg)
|
|
|
|
NM_182914.3(SYNE2):c.13015G>A (p.Glu4339Lys)
|
|
|
|
NM_182914.3(SYNE2):c.13020_13023+12delinsGATCT
|
rs1555495562
|
|
|
NM_182914.3(SYNE2):c.13020_13023+9del
|
|
|
|
NM_182914.3(SYNE2):c.13022A>G (p.Gln4341Arg)
|
rs773368959
|
|
|
NM_182914.3(SYNE2):c.13023+11_13023+12insTC
|
|
|
|
NM_182914.3(SYNE2):c.13023+12C>T
|
|
|
|
NM_182914.3(SYNE2):c.13024-17T>C
|
|
|
|
NM_182914.3(SYNE2):c.13024-5dup
|
rs2153665783
|
|
|
NM_182914.3(SYNE2):c.13033A>G (p.Ile4345Val)
|
|
|
|
NM_182914.3(SYNE2):c.13044A>G (p.Lys4348=)
|
rs2153665812
|
|
|
NM_182914.3(SYNE2):c.13056A>G (p.Pro4352=)
|
rs1595663147
|
|
|
NM_182914.3(SYNE2):c.13066G>C (p.Glu4356Gln)
|
|
|
|
NM_182914.3(SYNE2):c.13097T>C (p.Leu4366Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13107T>C (p.Ile4369=)
|
|
|
|
NM_182914.3(SYNE2):c.13113T>C (p.Thr4371=)
|
rs2153665864
|
|
|
NM_182914.3(SYNE2):c.13122A>G (p.Pro4374=)
|
|
|
|
NM_182914.3(SYNE2):c.13125A>G (p.Gln4375=)
|
|
|
|
NM_182914.3(SYNE2):c.13128C>G (p.Phe4376Leu)
|
|
|
|
NM_182914.3(SYNE2):c.13130G>A (p.Ser4377Asn)
|
|
|
|
NM_182914.3(SYNE2):c.13141G>T (p.Asp4381Tyr)
|
rs1595663501
|
|
|
NM_182914.3(SYNE2):c.13142A>G (p.Asp4381Gly)
|
|
|
|
NM_182914.3(SYNE2):c.13156C>T (p.Gln4386Ter)
|
|
|
|
NM_182914.3(SYNE2):c.13159G>A (p.Val4387Ile)
|
|
|
|
NM_182914.3(SYNE2):c.13159G>C (p.Val4387Leu)
|
rs764515386
|
|
|
NM_182914.3(SYNE2):c.13159G>T (p.Val4387Phe)
|
|
|
|
NM_182914.3(SYNE2):c.13188A>T (p.Lys4396Asn)
|
|
|
|
NM_182914.3(SYNE2):c.13196T>C (p.Ile4399Thr)
|
|
|
|
NM_182914.3(SYNE2):c.1320T>C (p.His440=)
|
|
|
|
NM_182914.3(SYNE2):c.13234C>T (p.Gln4412Ter)
|
rs1427446795
|
|
|
NM_182914.3(SYNE2):c.13263T>G (p.Thr4421=)
|
rs1362104612
|
|
|
NM_182914.3(SYNE2):c.13280+20_13280+21del
|
|
|
|
NM_182914.3(SYNE2):c.13291T>A (p.Ser4431Thr)
|
|
|
|
NM_182914.3(SYNE2):c.1329T>C (p.Ile443=)
|
|
|
|
NM_182914.3(SYNE2):c.13312C>T (p.Pro4438Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13320G>A (p.Ser4440=)
|
|
|
|
NM_182914.3(SYNE2):c.13326G>A (p.Leu4442=)
|
|
|
|
NM_182914.3(SYNE2):c.13335G>C (p.Gln4445His)
|
|
|
|
NM_182914.3(SYNE2):c.13343dup (p.Asn4448fs)
|
|
|
|
NM_182914.3(SYNE2):c.13366C>T (p.His4456Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.13371T>G (p.His4457Gln)
|
rs778640413
|
|
|
NM_182914.3(SYNE2):c.1338C>T (p.Thr446=)
|
|
|
|
NM_182914.3(SYNE2):c.13422+10T>C
|
|
|
|
NM_182914.3(SYNE2):c.13422+17A>G
|
|
|
|
NM_182914.3(SYNE2):c.13422+7C>A
|
|
|
|
NM_182914.3(SYNE2):c.13423-5A>G
|
rs2153670816
|
|
|
NM_182914.3(SYNE2):c.13425T>A (p.Val4475=)
|
|
|
|
NM_182914.3(SYNE2):c.13453G>A (p.Val4485Met)
|
|
|
|
NM_182914.3(SYNE2):c.13461G>A (p.Met4487Ile)
|
|
|
|
NM_182914.3(SYNE2):c.13467C>T (p.Asn4489=)
|
|
|
|
NM_182914.3(SYNE2):c.13489G>T (p.Glu4497Ter)
|
rs1350663000
|
|
|
NM_182914.3(SYNE2):c.13490A>T (p.Glu4497Val)
|
|
|
|
NM_182914.3(SYNE2):c.13526G>A (p.Arg4509His)
|
rs200946949
|
|
|
NM_182914.3(SYNE2):c.1352A>G (p.Asp451Gly)
|
|
|
|
NM_182914.3(SYNE2):c.13549A>G (p.Thr4517Ala)
|
rs980737727
|
|
|
NM_182914.3(SYNE2):c.13554+16A>G
|
|
|
|
NM_182914.3(SYNE2):c.13554+18T>C
|
|
|
|
NM_182914.3(SYNE2):c.13554+3A>G
|
|
|
|
NM_182914.3(SYNE2):c.13554+6del
|
rs772829991
|
|
|
NM_182914.3(SYNE2):c.13555-12C>G
|
rs1175752590
|
|
|
NM_182914.3(SYNE2):c.13555-19T>G
|
|
|
|
NM_182914.3(SYNE2):c.13562T>C (p.Met4521Thr)
|
|
|
|
NM_182914.3(SYNE2):c.13566A>G (p.Thr4522=)
|
|
|
|
NM_182914.3(SYNE2):c.13575A>G (p.Ala4525=)
|
|
|
|
NM_182914.3(SYNE2):c.13576T>C (p.Tyr4526His)
|
|
|
|
NM_182914.3(SYNE2):c.13577A>G (p.Tyr4526Cys)
|
|
|
|
NM_182914.3(SYNE2):c.13583A>C (p.Asn4528Thr)
|
|
|
|
NM_182914.3(SYNE2):c.13583A>G (p.Asn4528Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13584T>C (p.Asn4528=)
|
|
|
|
NM_182914.3(SYNE2):c.13588G>T (p.Asp4530Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.13609T>C (p.Phe4537Leu)
|
|
|
|
NM_182914.3(SYNE2):c.13612C>T (p.Leu4538=)
|
rs775368857
|
|
|
NM_182914.3(SYNE2):c.13614G>T (p.Leu4538=)
|
|
|
|
NM_182914.3(SYNE2):c.13644G>A (p.Glu4548=)
|
|
|
|
NM_182914.3(SYNE2):c.13645del (p.Glu4549fs)
|
rs2097945797
|
|
|
NM_182914.3(SYNE2):c.13649T>C (p.Met4550Thr)
|
|
|
|
NM_182914.3(SYNE2):c.13660C>G (p.Pro4554Ala)
|
|
|
|
NM_182914.3(SYNE2):c.13664G>C (p.Arg4555Thr)
|
|
|
|
NM_182914.3(SYNE2):c.13666C>A (p.Leu4556Ile)
|
|
|
|
NM_182914.3(SYNE2):c.13675G>A (p.Glu4559Lys)
|
|
|
|
NM_182914.3(SYNE2):c.13683T>A (p.Gly4561=)
|
rs1342620395
|
|
|
NM_182914.3(SYNE2):c.13687G>C (p.Gly4563Arg)
|
rs1595697916
|
|
|
NM_182914.3(SYNE2):c.13688G>A (p.Gly4563Asp)
|
rs749516915
|
|
|
NM_182914.3(SYNE2):c.13693C>G (p.Gln4565Glu)
|
rs2153672399
|
|
|
NM_182914.3(SYNE2):c.13697T>A (p.Val4566Glu)
|
|
|
|
NM_182914.3(SYNE2):c.13697T>C (p.Val4566Ala)
|
rs2097946367
|
|
|
NM_182914.3(SYNE2):c.13704C>T (p.Tyr4568=)
|
|
|
|
NM_182914.3(SYNE2):c.13705_13706delinsTT (p.Glu4569Leu)
|
rs2153672414
|
|
|
NM_182914.3(SYNE2):c.13707+10T>C
|
rs61987277
|
|
|
NM_182914.3(SYNE2):c.13707+10T>G
|
rs61987277
|
|
|
NM_182914.3(SYNE2):c.13707+16C>T
|
|
|
|
NM_182914.3(SYNE2):c.13707+19G>A
|
|
|
|
NM_182914.3(SYNE2):c.13708-11C>T
|
|
|
|
NM_182914.3(SYNE2):c.13708-13C>G
|
rs146315545
|
|
|
NM_182914.3(SYNE2):c.13708-14C>T
|
|
|
|
NM_182914.3(SYNE2):c.13710G>A (p.Thr4570=)
|
|
|
|
NM_182914.3(SYNE2):c.1372G>C (p.Val458Leu)
|
|
|
|
NM_182914.3(SYNE2):c.13742C>T (p.Ala4581Val)
|
|
|
|
NM_182914.3(SYNE2):c.13747A>C (p.Ser4583Arg)
|
rs886042291
|
|
|
NM_182914.3(SYNE2):c.13760G>A (p.Gly4587Asp)
|
|
|
|
NM_182914.3(SYNE2):c.13775C>T (p.Ala4592Val)
|
rs2153672678
|
|
|
NM_182914.3(SYNE2):c.13777A>T (p.Met4593Leu)
|
rs777253540
|
|
|
NM_182914.3(SYNE2):c.1377A>G (p.Pro459=)
|
|
|
|
NM_182914.3(SYNE2):c.1379C>T (p.Pro460Leu)
|
|
|
|
NM_182914.3(SYNE2):c.13820T>C (p.Phe4607Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13826A>G (p.Asn4609Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13828del (p.Leu4610fs)
|
|
|
|
NM_182914.3(SYNE2):c.13838G>C (p.Cys4613Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13840C>G (p.Leu4614Val)
|
|
|
|
NM_182914.3(SYNE2):c.13845G>A (p.Glu4615=)
|
|
|
|
NM_182914.3(SYNE2):c.13858G>C (p.Ala4620Pro)
|
rs778607522
|
|
|
NM_182914.3(SYNE2):c.13875C>T (p.Ser4625=)
|
rs762342233
|
|
|
NM_182914.3(SYNE2):c.13887A>G (p.Lys4629=)
|
|
|
|
NM_182914.3(SYNE2):c.1388T>G (p.Leu463Trp)
|
|
|
|
NM_182914.3(SYNE2):c.13896C>T (p.Leu4632=)
|
rs766703027
|
|
|
NM_182914.3(SYNE2):c.13898A>G (p.Asp4633Gly)
|
|
|
|
NM_182914.3(SYNE2):c.13904A>G (p.Asn4635Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13906C>T (p.Arg4636Cys)
|
rs767673156
|
|
|
NM_182914.3(SYNE2):c.13917+11G>A
|
|
|
|
NM_182914.3(SYNE2):c.13918-2A>G
|
|
|
|
NM_182914.3(SYNE2):c.13918-3C>T
|
|
|
|
NM_182914.3(SYNE2):c.13918-8T>C
|
rs2153675582
|
|
|
NM_182914.3(SYNE2):c.13919A>G (p.Asn4640Ser)
|
|
|
|
NM_182914.3(SYNE2):c.13945C>T (p.Leu4649Phe)
|
|
|
|
NM_182914.3(SYNE2):c.13947C>T (p.Leu4649=)
|
|
|
|
NM_182914.3(SYNE2):c.13953G>A (p.Lys4651=)
|
|
|
|
NM_182914.3(SYNE2):c.1398G>T (p.Met466Ile)
|
rs2096557553
|
|
|
NM_182914.3(SYNE2):c.14003T>C (p.Val4668Ala)
|
|
|
|
NM_182914.3(SYNE2):c.14019+11C>A
|
|
|
|
NM_182914.3(SYNE2):c.14019+11C>G
|
|
|
|
NM_182914.3(SYNE2):c.14031A>G (p.Ala4677=)
|
|
|
|
NM_182914.3(SYNE2):c.14035A>G (p.Thr4679Ala)
|
|
|
|
NM_182914.3(SYNE2):c.14044C>G (p.Leu4682Val)
|
rs184218195
|
|
|
NM_182914.3(SYNE2):c.14050A>G (p.Asn4684Asp)
|
|
|
|
NM_182914.3(SYNE2):c.14053G>T (p.Ala4685Ser)
|
rs779457100
|
|
|
NM_182914.3(SYNE2):c.14055C>A (p.Ala4685=)
|
|
|
|
NM_182914.3(SYNE2):c.1405C>T (p.Arg469Ter)
|
rs772555259
|
|
|
NM_182914.3(SYNE2):c.1406+15C>T
|
|
|
|
NM_182914.3(SYNE2):c.14061C>T (p.Ser4687=)
|
|
|
|
NM_182914.3(SYNE2):c.1407-13C>T
|
|
|
|
NM_182914.3(SYNE2):c.14074C>T (p.Leu4692=)
|
|
|
|
NM_182914.3(SYNE2):c.14093G>T (p.Arg4698Met)
|
|
|
|
NM_182914.3(SYNE2):c.140G>A (p.Arg47Lys)
|
|
|
|
NM_182914.3(SYNE2):c.141+12A>C
|
|
|
|
NM_182914.3(SYNE2):c.141+18A>G
|
|
|
|
NM_182914.3(SYNE2):c.14112T>G (p.Ala4704=)
|
rs1595719768
|
|
|
NM_182914.3(SYNE2):c.14117T>C (p.Leu4706Pro)
|
rs2097995502
|
|
|
NM_182914.3(SYNE2):c.14120AGG[1] (p.Glu4708del)
|
|
|
|
NM_182914.3(SYNE2):c.14121G>A (p.Gln4707=)
|
|
|
|
NM_182914.3(SYNE2):c.1412A>G (p.Asn471Ser)
|
rs1596005286
|
|
|
NM_182914.3(SYNE2):c.14133A>G (p.Lys4711=)
|
|
|
|
NM_182914.3(SYNE2):c.14139+20A>G
|
rs1185932205
|
|
|
NM_182914.3(SYNE2):c.14146C>T (p.Leu4716Phe)
|
|
|
|
NM_182914.3(SYNE2):c.14153G>C (p.Ser4718Thr)
|
rs374716181
|
|
|
NM_182914.3(SYNE2):c.14157G>A (p.Met4719Ile)
|
rs140797941
|
|
|
NM_182914.3(SYNE2):c.14157G>T (p.Met4719Ile)
|
rs140797941
|
|
|
NM_182914.3(SYNE2):c.14162G>C (p.Gly4721Ala)
|
|
|
|
NM_182914.3(SYNE2):c.14178G>T (p.Arg4726Ser)
|
|
|
|
NM_182914.3(SYNE2):c.14179T>G (p.Tyr4727Asp)
|
rs2097999211
|
|
|
NM_182914.3(SYNE2):c.14180A>G (p.Tyr4727Cys)
|
|
|
|
NM_182914.3(SYNE2):c.14190C>T (p.Leu4730=)
|
|
|
|
NM_182914.3(SYNE2):c.14198C>G (p.Pro4733Arg)
|
|
|
|
NM_182914.3(SYNE2):c.14202C>T (p.Phe4734=)
|
|
|
|
NM_182914.3(SYNE2):c.14224G>C (p.Ala4742Pro)
|
rs768191476
|
|
|
NM_182914.3(SYNE2):c.14233_14241del (p.Gln4745_Met4747del)
|
|
|
|
NM_182914.3(SYNE2):c.14237G>T (p.Gly4746Val)
|
rs2153678880
|
|
|
NM_182914.3(SYNE2):c.14239A>C (p.Met4747Leu)
|
|
|
|
NM_182914.3(SYNE2):c.14242G>A (p.Val4748Met)
|
|
|
|
NM_182914.3(SYNE2):c.14248C>G (p.Leu4750Val)
|
|
|
|
NM_182914.3(SYNE2):c.14257A>G (p.Ile4753Val)
|
rs886042776
|
|
|
NM_182914.3(SYNE2):c.14258T>C (p.Ile4753Thr)
|
|
|
|
NM_182914.3(SYNE2):c.14259T>C (p.Ile4753=)
|
|
|
|
NM_182914.3(SYNE2):c.14270A>G (p.Lys4757Arg)
|
|
|
|
NM_182914.3(SYNE2):c.14279A>G (p.His4760Arg)
|
rs1006840235
|
|
|
NM_182914.3(SYNE2):c.14292_14296del (p.Lys4764fs)
|
|
|
|
NM_182914.3(SYNE2):c.1432T>A (p.Phe478Ile)
|
|
|
|
NM_182914.3(SYNE2):c.14340+12A>G
|
|
|
|
NM_182914.3(SYNE2):c.14340+13C>A
|
|
|
|
NM_182914.3(SYNE2):c.14340+7C>G
|
|
|
|
NM_182914.3(SYNE2):c.14341-11C>A
|
rs369669657
|
|
|
NM_182914.3(SYNE2):c.14341-13C>G
|
rs2153681733
|
|
|
NM_182914.3(SYNE2):c.14341-16T>C
|
|
|
|
NM_182914.3(SYNE2):c.14354A>G (p.Lys4785Arg)
|
rs2153681761
|
|
|
NM_182914.3(SYNE2):c.14356C>T (p.Leu4786Phe)
|
|
|
|
NM_182914.3(SYNE2):c.14369T>C (p.Met4790Thr)
|
rs2153681775
|
|
|
NM_182914.3(SYNE2):c.14371TTG[1] (p.Leu4792del)
|
|
|
|
NM_182914.3(SYNE2):c.14378T>C (p.Ile4793Thr)
|
rs1281282356
|
|
|
NM_182914.3(SYNE2):c.14381A>G (p.Gln4794Arg)
|
|
|
|
NM_182914.3(SYNE2):c.14414T>C (p.Leu4805Ser)
|
rs2153681833
|
|
|
NM_182914.3(SYNE2):c.14421C>G (p.Asn4807Lys)
|
|
|
|
NM_182914.3(SYNE2):c.1444C>G (p.Leu482Val)
|
|
|
|
NM_182914.3(SYNE2):c.14477C>T (p.Ser4826Leu)
|
|
|
|
NM_182914.3(SYNE2):c.14480G>A (p.Arg4827His)
|
|
|
|
NM_182914.3(SYNE2):c.14491A>G (p.Met4831Val)
|
|
|
|
NM_182914.3(SYNE2):c.14496G>A (p.Lys4832=)
|
|
|
|
NM_182914.3(SYNE2):c.14503dup (p.Ser4835fs)
|
|
|
|
NM_182914.3(SYNE2):c.14514+13T>C
|
|
|
|
NM_182914.3(SYNE2):c.14514+19C>T
|
|
|
|
NM_182914.3(SYNE2):c.14514+20G>A
|
|
|
|
NM_182914.3(SYNE2):c.14514+20G>C
|
|
|
|
NM_182914.3(SYNE2):c.14514+20G>T
|
|
|
|
NM_182914.3(SYNE2):c.14527T>C (p.Phe4843Leu)
|
rs1357447966
|
|
|
NM_182914.3(SYNE2):c.14530G>T (p.Asp4844Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.14533G>A (p.Glu4845Lys)
|
|
|
|
NM_182914.3(SYNE2):c.14560C>G (p.Leu4854Val)
|
rs1475889359
|
|
|
NM_182914.3(SYNE2):c.14561T>G (p.Leu4854Arg)
|
|
|
|
NM_182914.3(SYNE2):c.14596T>C (p.Leu4866=)
|
|
|
|
NM_182914.3(SYNE2):c.14598G>A (p.Leu4866=)
|
|
|
|
NM_182914.3(SYNE2):c.14599G>C (p.Val4867Leu)
|
|
|
|
NM_182914.3(SYNE2):c.14601G>A (p.Val4867=)
|
rs1595748002
|
|
|
NM_182914.3(SYNE2):c.14609C>G (p.Thr4870Arg)
|
|
|
|
NM_182914.3(SYNE2):c.1460A>G (p.Tyr487Cys)
|
|
|
|
NM_182914.3(SYNE2):c.14617A>G (p.Arg4873Gly)
|
rs2153684012
|
|
|
NM_182914.3(SYNE2):c.1461C>G (p.Tyr487Ter)
|
|
|
|
NM_182914.3(SYNE2):c.14637A>C (p.Ser4879=)
|
|
|
|
NM_182914.3(SYNE2):c.14644C>T (p.Gln4882Ter)
|
rs1555503635
|
|
|
NM_182914.3(SYNE2):c.14646+20G>T
|
|
|
|
NM_182914.3(SYNE2):c.14647-16C>G
|
|
|
|
NM_182914.3(SYNE2):c.14655A>G (p.Lys4885=)
|
rs1595771604
|
|
|
NM_182914.3(SYNE2):c.14662A>G (p.Ile4888Val)
|
|
|
|
NM_182914.3(SYNE2):c.14667T>C (p.Gly4889=)
|
rs576736744
|
|
|
NM_182914.3(SYNE2):c.14676C>A (p.His4892Gln)
|
rs375987275
|
|
|
NM_182914.3(SYNE2):c.14676C>T (p.His4892=)
|
rs375987275
|
|
|
NM_182914.3(SYNE2):c.14680C>T (p.Arg4894Trp)
|
|
|
|
NM_182914.3(SYNE2):c.146C>G (p.Thr49Ser)
|
rs754768287
|
|
|
NM_182914.3(SYNE2):c.14703A>T (p.Glu4901Asp)
|
|
|
|
NM_182914.3(SYNE2):c.14715G>C (p.Leu4905Phe)
|
rs2098107665
|
|
|
NM_182914.3(SYNE2):c.1471G>A (p.Val491Ile)
|
rs1596005659
|
|
|
NM_182914.3(SYNE2):c.14732G>A (p.Cys4911Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.14769G>A (p.Glu4923=)
|
|
|
|
NM_182914.3(SYNE2):c.14780C>G (p.Ser4927Cys)
|
|
|
|
NM_182914.3(SYNE2):c.14792A>C (p.Lys4931Thr)
|
|
|
|
NM_182914.3(SYNE2):c.14797G>C (p.Asp4933His)
|
|
|
|
NM_182914.3(SYNE2):c.14798A>G (p.Asp4933Gly)
|
rs2153688211
|
|
|
NM_182914.3(SYNE2):c.147T>C (p.Thr49=)
|
|
|
|
NM_182914.3(SYNE2):c.14812A>G (p.Arg4938Gly)
|
rs1258752132
|
|
|
NM_182914.3(SYNE2):c.14831A>C (p.Lys4944Thr)
|
|
|
|
NM_182914.3(SYNE2):c.14832G>A (p.Lys4944=)
|
rs1419168476
|
|
|
NM_182914.3(SYNE2):c.14833C>G (p.His4945Asp)
|
|
|
|
NM_182914.3(SYNE2):c.14843+13G>C
|
|
|
|
NM_182914.3(SYNE2):c.14844-5G>A
|
rs17825431
|
|
|
NM_182914.3(SYNE2):c.14844T>G (p.Ser4948Arg)
|
|
|
|
NM_182914.3(SYNE2):c.14847T>C (p.Tyr4949=)
|
rs779131429
|
|
|
NM_182914.3(SYNE2):c.14859G>A (p.Ser4953=)
|
|
|
|
NM_182914.3(SYNE2):c.14900T>C (p.Leu4967Pro)
|
rs1555506605
|
|
|
NM_182914.3(SYNE2):c.14927A>G (p.Asn4976Ser)
|
rs148883036
|
|
|
NM_182914.3(SYNE2):c.14938G>C (p.Asp4980His)
|
|
|
|
NM_182914.3(SYNE2):c.14944G>C (p.Asp4982His)
|
|
|
|
NM_182914.3(SYNE2):c.14966A>G (p.Asn4989Ser)
|
|
|
|
NM_182914.3(SYNE2):c.14975T>G (p.Phe4992Cys)
|
|
|
|
NM_182914.3(SYNE2):c.14976+16A>G
|
|
|
|
NM_182914.3(SYNE2):c.14977-9C>G
|
|
|
|
NM_182914.3(SYNE2):c.14986A>G (p.Lys4996Glu)
|
|
|
|
NM_182914.3(SYNE2):c.1498T>A (p.Ser500Thr)
|
rs2153471030
|
|
|
NM_182914.3(SYNE2):c.14993T>G (p.Val4998Gly)
|
rs1463128504
|
|
|
NM_182914.3(SYNE2):c.149C>T (p.Ser50Phe)
|
|
|
|
NM_182914.3(SYNE2):c.15008C>T (p.Ser5003Phe)
|
|
|
|
NM_182914.3(SYNE2):c.15013A>G (p.Lys5005Glu)
|
|
|
|
NM_182914.3(SYNE2):c.15017C>T (p.Thr5006Ile)
|
rs1334553031
|
|
|
NM_182914.3(SYNE2):c.15022G>A (p.Val5008Ile)
|
|
|
|
NM_182914.3(SYNE2):c.15034G>A (p.Gly5012Arg)
|
|
|
|
NM_182914.3(SYNE2):c.15050A>T (p.His5017Leu)
|
rs1387380431
|
|
|
NM_182914.3(SYNE2):c.15052C>G (p.Leu5018Val)
|
|
|
|
NM_182914.3(SYNE2):c.15083C>G (p.Ala5028Gly)
|
|
|
|
NM_182914.3(SYNE2):c.15092C>A (p.Ala5031Glu)
|
rs2098138765
|
|
|
NM_182914.3(SYNE2):c.15115A>G (p.Met5039Val)
|
|
|
|
NM_182914.3(SYNE2):c.15129A>G (p.Gln5043=)
|
|
|
|
NM_182914.3(SYNE2):c.15142C>G (p.Gln5048Glu)
|
rs2153692395
|
|
|
NM_182914.3(SYNE2):c.15154C>T (p.His5052Tyr)
|
rs142758563
|
|
|
NM_182914.3(SYNE2):c.15156C>A (p.His5052Gln)
|
|
|
|
NM_182914.3(SYNE2):c.15159+2T>G
|
|
|
|
NM_182914.3(SYNE2):c.15175T>C (p.Leu5059=)
|
|
|
|
NM_182914.3(SYNE2):c.15181T>A (p.Ser5061Thr)
|
|
|
|
NM_182914.3(SYNE2):c.15189A>C (p.Lys5063Asn)
|
rs2098142550
|
|
|
NM_182914.3(SYNE2):c.15193A>G (p.Ile5065Val)
|
|
|
|
NM_182914.3(SYNE2):c.15216G>A (p.Met5072Ile)
|
|
|
|
NM_182914.3(SYNE2):c.15229C>T (p.His5077Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.15233A>C (p.Gln5078Pro)
|
rs751092033
|
|
|
NM_182914.3(SYNE2):c.15237T>A (p.Thr5079=)
|
rs754139822
|
|
|
NM_182914.3(SYNE2):c.15243T>G (p.Asp5081Glu)
|
rs1439636138
|
|
|
NM_182914.3(SYNE2):c.15263C>A (p.Pro5088Gln)
|
rs779934215
|
|
|
NM_182914.3(SYNE2):c.15274T>C (p.Ser5092Pro)
|
|
|
|
NM_182914.3(SYNE2):c.15277C>G (p.Gln5093Glu)
|
|
|
|
NM_182914.3(SYNE2):c.15290T>A (p.Leu5097His)
|
|
|
|
NM_182914.3(SYNE2):c.15290TTC[1] (p.Leu5098del)
|
rs368230785
|
|
|
NM_182914.3(SYNE2):c.15306+2T>G
|
|
|
|
NM_182914.3(SYNE2):c.15307-9T>G
|
|
|
|
NM_182914.3(SYNE2):c.15307G>C (p.Glu5103Gln)
|
|
|
|
NM_182914.3(SYNE2):c.15316A>G (p.Met5106Val)
|
rs376851893
|
|
|
NM_182914.3(SYNE2):c.15351C>T (p.Phe5117=)
|
rs569092674
|
|
|
NM_182914.3(SYNE2):c.15352G>C (p.Val5118Leu)
|
|
|
|
NM_182914.3(SYNE2):c.15386A>T (p.Asp5129Val)
|
|
|
|
NM_182914.3(SYNE2):c.1539A>G (p.Glu513=)
|
rs1596005871
|
|
|
NM_182914.3(SYNE2):c.15400C>T (p.Arg5134Cys)
|
|
|
|
NM_182914.3(SYNE2):c.15401G>A (p.Arg5134His)
|
|
|
|
NM_182914.3(SYNE2):c.15407A>G (p.Glu5136Gly)
|
rs2098160730
|
|
|
NM_182914.3(SYNE2):c.15412A>G (p.Thr5138Ala)
|
|
|
|
NM_182914.3(SYNE2):c.15413C>G (p.Thr5138Arg)
|
|
|
|
NM_182914.3(SYNE2):c.15419T>C (p.Phe5140Ser)
|
|
|
|
NM_182914.3(SYNE2):c.15424G>A (p.Glu5142Lys)
|
rs777915070
|
|
|
NM_182914.3(SYNE2):c.15429C>G (p.His5143Gln)
|
|
|
|
NM_182914.3(SYNE2):c.15436dup (p.Glu5146fs)
|
|
|
|
NM_182914.3(SYNE2):c.15441G>T (p.Met5147Ile)
|
rs2098161023
|
|
|
NM_182914.3(SYNE2):c.15446G>T (p.Arg5149Leu)
|
rs142206385
|
|
|
NM_182914.3(SYNE2):c.15450G>A (p.Gln5150=)
|
|
|
|
NM_182914.3(SYNE2):c.15457C>A (p.Arg5153Ser)
|
|
|
|
NM_182914.3(SYNE2):c.15471G>T (p.Met5157Ile)
|
rs774589129
|
|
|
NM_182914.3(SYNE2):c.15483+12C>T
|
|
|
|
NM_182914.3(SYNE2):c.15483+13G>A
|
rs369303929
|
|
|
NM_182914.3(SYNE2):c.15484-12A>G
|
|
|
|
NM_182914.3(SYNE2):c.15484-14_15484-13del
|
|
|
|
NM_182914.3(SYNE2):c.15495A>G (p.Leu5165=)
|
rs1555509783
|
|
|
NM_182914.3(SYNE2):c.15527A>T (p.Glu5176Val)
|
rs1595828652
|
|
|
NM_182914.3(SYNE2):c.15533_15537del (p.Lys5178fs)
|
|
|
|
NM_182914.3(SYNE2):c.15543C>A (p.Ile5181=)
|
|
|
|
NM_182914.3(SYNE2):c.15556_15557delinsAC (p.Leu5186Thr)
|
rs2153697219
|
|
|
NM_182914.3(SYNE2):c.15575G>T (p.Arg5192Ile)
|
|
|
|
NM_182914.3(SYNE2):c.15581A>G (p.Lys5194Arg)
|
|
|
|
NM_182914.3(SYNE2):c.15594A>C (p.Lys5198Asn)
|
|
|
|
NM_182914.3(SYNE2):c.15599A>G (p.Glu5200Gly)
|
rs2153697258
|
|
|
NM_182914.3(SYNE2):c.15603T>G (p.Ser5201Arg)
|
|
|
|
NM_182914.3(SYNE2):c.15609C>T (p.Ile5203=)
|
|
|
|
NM_182914.3(SYNE2):c.15611C>T (p.Ser5204Leu)
|
|
|
|
NM_182914.3(SYNE2):c.15621G>A (p.Lys5207=)
|
|
|
|
NM_182914.3(SYNE2):c.15624G>T (p.Leu5208=)
|
rs371688900
|
|
|
NM_182914.3(SYNE2):c.15627C>T (p.Leu5209=)
|
|
|
|
NM_182914.3(SYNE2):c.15645A>G (p.Ile5215Met)
|
rs2153704568
|
|
|
NM_182914.3(SYNE2):c.15657T>G (p.Leu5219=)
|
|
|
|
NM_182914.3(SYNE2):c.1566G>T (p.Trp522Cys)
|
|
|
|
NM_182914.3(SYNE2):c.1569+18G>T
|
|
|
|
NM_182914.3(SYNE2):c.1569+2T>G
|
rs1029219568
|
|
|
NM_182914.3(SYNE2):c.1570-14dup
|
|
|
|
NM_182914.3(SYNE2):c.1570-8C>T
|
|
|
|
NM_182914.3(SYNE2):c.15717G>A (p.Gly5239=)
|
rs770064129
|
|
|
NM_182914.3(SYNE2):c.15724C>T (p.Pro5242Ser)
|
rs2153704617
|
|
|
NM_182914.3(SYNE2):c.1573T>C (p.Phe525Leu)
|
|
|
|
NM_182914.3(SYNE2):c.1574T>G (p.Phe525Cys)
|
rs2096578814
|
|
|
NM_182914.3(SYNE2):c.15763T>C (p.Phe5255Leu)
|
|
|
|
NM_182914.3(SYNE2):c.15774A>G (p.Arg5258=)
|
rs1595869914
|
|
|
NM_182914.3(SYNE2):c.15779G>C (p.Ser5260Thr)
|
|
|
|
NM_182914.3(SYNE2):c.15786C>T (p.Leu5262=)
|
|
|
|
NM_182914.3(SYNE2):c.15787A>G (p.Thr5263Ala)
|
|
|
|
NM_182914.3(SYNE2):c.15792+16del
|
|
|
|
NM_182914.3(SYNE2):c.15792+3A>G
|
|
|
|
NM_182914.3(SYNE2):c.15793-12C>G
|
|
|
|
NM_182914.3(SYNE2):c.15812C>A (p.Ser5271Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.15818A>G (p.Gln5273Arg)
|
|
|
|
NM_182914.3(SYNE2):c.15869_15877del (p.Asn5290_Met5292del)
|
rs2098305444
|
|
|
NM_182914.3(SYNE2):c.15878C>T (p.Thr5293Ile)
|
|
|
|
NM_182914.3(SYNE2):c.15884G>T (p.Arg5295Leu)
|
rs769633528
|
|
|
NM_182914.3(SYNE2):c.15909C>A (p.Ser5303Arg)
|
|
|
|
NM_182914.3(SYNE2):c.15916G>A (p.Val5306Met)
|
|
|
|
NM_182914.3(SYNE2):c.15918G>C (p.Val5306=)
|
rs767882664
|
|
|
NM_182914.3(SYNE2):c.15942A>T (p.Arg5314Ser)
|
|
|
|
NM_182914.3(SYNE2):c.1595T>C (p.Leu532Pro)
|
|
|
|
NM_182914.3(SYNE2):c.15963+12A>G
|
|
|
|
NM_182914.3(SYNE2):c.15964-11G>C
|
|
|
|
NM_182914.3(SYNE2):c.15964-19T>G
|
|
|
|
NM_182914.3(SYNE2):c.15964-9_15964-8del
|
rs1205823094
|
|
|
NM_182914.3(SYNE2):c.15965C>T (p.Ser5322Phe)
|
|
|
|
NM_182914.3(SYNE2):c.15990T>C (p.Ser5330=)
|
|
|
|
NM_182914.3(SYNE2):c.15T>C (p.Pro5=)
|
rs2153351102
|
|
|
NM_182914.3(SYNE2):c.1601G>A (p.Arg534Gln)
|
|
|
|
NM_182914.3(SYNE2):c.16034A>G (p.Lys5345Arg)
|
|
|
|
NM_182914.3(SYNE2):c.16037G>A (p.Gly5346Asp)
|
rs751652922
|
|
|
NM_182914.3(SYNE2):c.16049C>T (p.Ser5350Phe)
|
|
|
|
NM_182914.3(SYNE2):c.16066G>A (p.Glu5356Lys)
|
|
|
|
NM_182914.3(SYNE2):c.16094+1G>A
|
|
|
|
NM_182914.3(SYNE2):c.16095-12T>C
|
rs1461495571
|
|
|
NM_182914.3(SYNE2):c.16095-13G>A
|
|
|
|
NM_182914.3(SYNE2):c.16095-13G>C
|
|
|
|
NM_182914.3(SYNE2):c.16095-14C>G
|
|
|
|
NM_182914.3(SYNE2):c.16095-14C>T
|
rs748585321
|
|
|
NM_182914.3(SYNE2):c.16116C>T (p.Ala5372=)
|
|
|
|
NM_182914.3(SYNE2):c.16117A>G (p.Ile5373Val)
|
rs139545002
|
|
|
NM_182914.3(SYNE2):c.16141C>T (p.Gln5381Ter)
|
rs2153715425
|
|
|
NM_182914.3(SYNE2):c.16160G>C (p.Trp5387Ser)
|
|
|
|
NM_182914.3(SYNE2):c.16169A>G (p.Tyr5390Cys)
|
|
|
|
NM_182914.3(SYNE2):c.16169A>T (p.Tyr5390Phe)
|
|
|
|
NM_182914.3(SYNE2):c.16178C>G (p.Ala5393Gly)
|
|
|
|
NM_182914.3(SYNE2):c.16224T>G (p.Phe5408Leu)
|
|
|
|
NM_182914.3(SYNE2):c.16234G>A (p.Ala5412Thr)
|
|
|
|
NM_182914.3(SYNE2):c.16261C>T (p.Leu5421=)
|
rs1477350865
|
|
|
NM_182914.3(SYNE2):c.16270A>T (p.Ile5424Phe)
|
rs2098335261
|
|
|
NM_182914.3(SYNE2):c.16278C>G (p.Pro5426=)
|
|
|
|
NM_182914.3(SYNE2):c.16288C>G (p.Gln5430Glu)
|
|
|
|
NM_182914.3(SYNE2):c.16290G>A (p.Gln5430=)
|
|
|
|
NM_182914.3(SYNE2):c.16294A>G (p.Ile5432Val)
|
|
|
|
NM_182914.3(SYNE2):c.16300-20C>T
|
|
|
|
NM_182914.3(SYNE2):c.16300G>A (p.Glu5434Lys)
|
rs886050594
|
|
|
NM_182914.3(SYNE2):c.16302G>A (p.Glu5434=)
|
|
|
|
NM_182914.3(SYNE2):c.16302G>T (p.Glu5434Asp)
|
|
|
|
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del)
|
rs751691446
|
|
|
NM_182914.3(SYNE2):c.16339C>T (p.Leu5447Phe)
|
rs2153717796
|
|
|
NM_182914.3(SYNE2):c.16348T>G (p.Ser5450Ala)
|
rs916780390
|
|
|
NM_182914.3(SYNE2):c.16349C>G (p.Ser5450Cys)
|
rs757857559
|
|
|
NM_182914.3(SYNE2):c.16361A>C (p.Asp5454Ala)
|
|
|
|
NM_182914.3(SYNE2):c.16364G>T (p.Arg5455Leu)
|
|
|
|
NM_182914.3(SYNE2):c.16368C>G (p.Leu5456=)
|
rs1395361762
|
|
|
NM_182914.3(SYNE2):c.16377C>T (p.Pro5459=)
|
|
|
|
NM_182914.3(SYNE2):c.16385C>T (p.Ser5462Phe)
|
|
|
|
NM_182914.3(SYNE2):c.16390A>G (p.Thr5464Ala)
|
|
|
|
NM_182914.3(SYNE2):c.16392C>T (p.Thr5464=)
|
|
|
|
NM_182914.3(SYNE2):c.16399C>A (p.Leu5467Ile)
|
|
|
|
NM_182914.3(SYNE2):c.16403T>C (p.Leu5468Pro)
|
|
|
|
NM_182914.3(SYNE2):c.16408G>C (p.Gly5470Arg)
|
|
|
|
NM_182914.3(SYNE2):c.16410C>A (p.Gly5470=)
|
|
|
|
NM_182914.3(SYNE2):c.16410C>T (p.Gly5470=)
|
|
|
|
NM_182914.3(SYNE2):c.16411C>G (p.Pro5471Ala)
|
|
|
|
NM_182914.3(SYNE2):c.16413C>G (p.Pro5471=)
|
rs2153717931
|
|
|
NM_182914.3(SYNE2):c.16417C>T (p.His5473Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.16423C>G (p.Leu5475Val)
|
|
|
|
NM_182914.3(SYNE2):c.16424T>G (p.Leu5475Arg)
|
|
|
|
NM_182914.3(SYNE2):c.16437T>C (p.Ala5479=)
|
|
|
|
NM_182914.3(SYNE2):c.16449G>C (p.Lys5483Asn)
|
rs1324537542
|
|
|
NM_182914.3(SYNE2):c.16451T>C (p.Met5484Thr)
|
|
|
|
NM_182914.3(SYNE2):c.16456C>T (p.Leu5486Phe)
|
|
|
|
NM_182914.3(SYNE2):c.16468A>C (p.Asn5490His)
|
rs776258589
|
|
|
NM_182914.3(SYNE2):c.16479+15T>C
|
|
|
|
NM_182914.3(SYNE2):c.16479+15T>G
|
rs80199180
|
|
|
NM_182914.3(SYNE2):c.16480-12C>A
|
|
|
|
NM_182914.3(SYNE2):c.16480-1G>A
|
rs1595931919
|
|
|
NM_182914.3(SYNE2):c.16486C>A (p.Leu5496Ile)
|
|
|
|
NM_182914.3(SYNE2):c.16488C>T (p.Leu5496=)
|
|
|
|
NM_182914.3(SYNE2):c.1649-4G>A
|
rs768330126
|
|
|
NM_182914.3(SYNE2):c.16505T>C (p.Phe5502Ser)
|
|
|
|
NM_182914.3(SYNE2):c.16510G>A (p.Val5504Ile)
|
rs1405152996
|
|
|
NM_182914.3(SYNE2):c.16514G>A (p.Arg5505Gln)
|
rs552897930
|
|
|
NM_182914.3(SYNE2):c.16524T>C (p.Ser5508=)
|
rs2098368173
|
|
|
NM_182914.3(SYNE2):c.16526T>C (p.Leu5509Ser)
|
|
|
|
NM_182914.3(SYNE2):c.16554G>C (p.Glu5518Asp)
|
|
|
|
NM_182914.3(SYNE2):c.16563T>C (p.Asp5521=)
|
rs2153721081
|
|
|
NM_182914.3(SYNE2):c.16568T>G (p.Leu5523Arg)
|
rs2153721084
|
|
|
NM_182914.3(SYNE2):c.16572C>T (p.His5524=)
|
rs746969779
|
|
|
NM_182914.3(SYNE2):c.16572_16574del (p.His5524del)
|
rs1176126760
|
|
|
NM_182914.3(SYNE2):c.16573C>A (p.Gln5525Lys)
|
|
|
|
NM_182914.3(SYNE2):c.16589A>G (p.Asn5530Ser)
|
rs1040531942
|
|
|
NM_182914.3(SYNE2):c.16595A>T (p.Asp5532Val)
|
|
|
|
NM_182914.3(SYNE2):c.16604T>A (p.Leu5535Gln)
|
rs2098368827
|
|
|
NM_182914.3(SYNE2):c.16605+9A>G
|
rs775937516
|
|
|
NM_182914.3(SYNE2):c.16606-7A>T
|
rs778409368
|
|
|
NM_182914.3(SYNE2):c.16607A>G (p.Asn5536Ser)
|
|
|
|
NM_182914.3(SYNE2):c.16608T>C (p.Asn5536=)
|
rs2153722940
|
|
|
NM_182914.3(SYNE2):c.16636C>A (p.Pro5546Thr)
|
|
|
|
NM_182914.3(SYNE2):c.16642A>G (p.Ile5548Val)
|
|
|
|
NM_182914.3(SYNE2):c.16643T>C (p.Ile5548Thr)
|
|
|
|
NM_182914.3(SYNE2):c.16653G>T (p.Leu5551Phe)
|
|
|
|
NM_182914.3(SYNE2):c.16701G>T (p.Thr5567=)
|
rs200950664
|
|
|
NM_182914.3(SYNE2):c.16718G>T (p.Arg5573Leu)
|
|
|
|
NM_182914.3(SYNE2):c.16721A>G (p.Gln5574Arg)
|
|
|
|
NM_182914.3(SYNE2):c.16729C>T (p.Arg5577Trp)
|
|
|
|
NM_182914.3(SYNE2):c.1672A>G (p.Lys558Glu)
|
rs761401589
|
|
|
NM_182914.3(SYNE2):c.16731G>A (p.Arg5577=)
|
|
|
|
NM_182914.3(SYNE2):c.16734CACGGC[1] (p.5579TA[1])
|
|
|
|
NM_182914.3(SYNE2):c.16736C>T (p.Thr5579Met)
|
|
|
|
NM_182914.3(SYNE2):c.16742C>T (p.Thr5581Met)
|
|
|
|
NM_182914.3(SYNE2):c.16746A>C (p.Ala5582=)
|
rs1056022982
|
|
|
NM_182914.3(SYNE2):c.16760+12C>G
|
rs1269780296
|
|
|
NM_182914.3(SYNE2):c.16761-10A>G
|
rs2098386877
|
|
|
NM_182914.3(SYNE2):c.16761-6T>C
|
|
|
|
NM_182914.3(SYNE2):c.1676A>G (p.Gln559Arg)
|
rs764895998
|
|
|
NM_182914.3(SYNE2):c.16772G>T (p.Gly5591Val)
|
|
|
|
NM_182914.3(SYNE2):c.16791G>A (p.Lys5597=)
|
rs2153723202
|
|
|
NM_182914.3(SYNE2):c.16816A>G (p.Ile5606Val)
|
rs1595946488
|
|
|
NM_182914.3(SYNE2):c.16837G>A (p.Glu5613Lys)
|
rs2153723228
|
|
|
NM_182914.3(SYNE2):c.16842A>G (p.Glu5614=)
|
|
|
|
NM_182914.3(SYNE2):c.16843G>A (p.Ala5615Thr)
|
|
|
|
NM_182914.3(SYNE2):c.16845A>G (p.Ala5615=)
|
rs1056275153
|
|
|
NM_182914.3(SYNE2):c.16855G>A (p.Asp5619Asn)
|
rs1220986968
|
|
|
NM_182914.3(SYNE2):c.1686G>C (p.Met562Ile)
|
|
|
|
NM_182914.3(SYNE2):c.16876G>A (p.Glu5626Lys)
|
|
|
|
NM_182914.3(SYNE2):c.16893G>A (p.Gln5631=)
|
rs2153723304
|
|
|
NM_182914.3(SYNE2):c.16905+17T>C
|
|
|
|
NM_182914.3(SYNE2):c.16905+2T>A
|
rs2098387803
|
|
|
NM_182914.3(SYNE2):c.16906-16T>C
|
|
|
|
NM_182914.3(SYNE2):c.16908G>A (p.Met5636Ile)
|
|
|
|
NM_182914.3(SYNE2):c.16922T>C (p.Val5641Ala)
|
|
|
|
NM_182914.3(SYNE2):c.16924T>C (p.Ser5642Pro)
|
rs145661639
|
|
|
NM_182914.3(SYNE2):c.16924T>G (p.Ser5642Ala)
|
rs145661639
|
|
|
NM_182914.3(SYNE2):c.1692A>G (p.Lys564=)
|
|
|
|
NM_182914.3(SYNE2):c.16931A>G (p.Asn5644Ser)
|
|
|
|
NM_182914.3(SYNE2):c.16939A>G (p.Ile5647Val)
|
|
|
|
NM_182914.3(SYNE2):c.1694C>G (p.Ser565Cys)
|
|
|
|
NM_182914.3(SYNE2):c.16952A>G (p.Tyr5651Cys)
|
|
|
|
NM_182914.3(SYNE2):c.16952A>T (p.Tyr5651Phe)
|
|
|
|
NM_182914.3(SYNE2):c.16969C>A (p.Gln5657Lys)
|
|
|
|
NM_182914.3(SYNE2):c.16981A>T (p.Thr5661Ser)
|
|
|
|
NM_182914.3(SYNE2):c.16984A>G (p.Thr5662Ala)
|
|
|
|
NM_182914.3(SYNE2):c.16994A>T (p.Glu5665Val)
|
|
|
|
NM_182914.3(SYNE2):c.17001-8T>C
|
rs768210935
|
|
|
NM_182914.3(SYNE2):c.17001A>G (p.Arg5667=)
|
|
|
|
NM_182914.3(SYNE2):c.17007A>G (p.Glu5669=)
|
|
|
|
NM_182914.3(SYNE2):c.1700T>C (p.Val567Ala)
|
|
|
|
NM_182914.3(SYNE2):c.17012T>C (p.Ile5671Thr)
|
|
|
|
NM_182914.3(SYNE2):c.17013T>C (p.Ile5671=)
|
|
|
|
NM_182914.3(SYNE2):c.17026A>G (p.Lys5676Glu)
|
|
|
|
NM_182914.3(SYNE2):c.17033C>A (p.Thr5678Lys)
|
|
|
|
NM_182914.3(SYNE2):c.17034G>A (p.Thr5678=)
|
|
|
|
NM_182914.3(SYNE2):c.1703G>T (p.Cys568Phe)
|
|
|
|
NM_182914.3(SYNE2):c.17049T>C (p.Asn5683=)
|
|
|
|
NM_182914.3(SYNE2):c.17055C>T (p.Val5685=)
|
|
|
|
NM_182914.3(SYNE2):c.17065C>T (p.Arg5689Trp)
|
|
|
|
NM_182914.3(SYNE2):c.17066G>A (p.Arg5689Gln)
|
rs574093957
|
|
|
NM_182914.3(SYNE2):c.17068C>A (p.Gln5690Lys)
|
|
|
|
NM_182914.3(SYNE2):c.17083G>A (p.Val5695Ile)
|
|
|
|
NM_182914.3(SYNE2):c.17095G>T (p.Val5699Leu)
|
|
|
|
NM_182914.3(SYNE2):c.17099G>A (p.Arg5700Lys)
|
|
|
|
NM_182914.3(SYNE2):c.17100G>A (p.Arg5700=)
|
rs1249953280
|
|
|
NM_182914.3(SYNE2):c.17119A>T (p.Thr5707Ser)
|
|
|
|
NM_182914.3(SYNE2):c.17125G>T (p.Val5709Leu)
|
rs753925813
|
|
|
NM_182914.3(SYNE2):c.17150C>G (p.Thr5717Ser)
|
|
|
|
NM_182914.3(SYNE2):c.17156C>G (p.Thr5719Ser)
|
|
|
|
NM_182914.3(SYNE2):c.17175A>C (p.Ala5725=)
|
|
|
|
NM_182914.3(SYNE2):c.17183G>A (p.Gly5728Asp)
|
|
|
|
NM_182914.3(SYNE2):c.17189A>G (p.Glu5730Gly)
|
|
|
|
NM_182914.3(SYNE2):c.17197A>G (p.Ser5733Gly)
|
|
|
|
NM_182914.3(SYNE2):c.17200C>G (p.Leu5734Val)
|
|
|
|
NM_182914.3(SYNE2):c.17235+15G>A
|
|
|
|
NM_182914.3(SYNE2):c.17235+1_17235+4del
|
|
|
|
NM_182914.3(SYNE2):c.17236-14_17236-11del
|
|
|
|
NM_182914.3(SYNE2):c.17236-14dup
|
|
|
|
NM_182914.3(SYNE2):c.17236-6T>C
|
|
|
|
NM_182914.3(SYNE2):c.17236-6dup
|
rs763046539
|
|
|
NM_182914.3(SYNE2):c.17249A>G (p.His5750Arg)
|
|
|
|
NM_182914.3(SYNE2):c.17293G>A (p.Gly5765Arg)
|
|
|
|
NM_182914.3(SYNE2):c.17295A>G (p.Gly5765=)
|
rs2153731238
|
|
|
NM_182914.3(SYNE2):c.17322G>C (p.Leu5774=)
|
rs2098427101
|
|
|
NM_182914.3(SYNE2):c.17328T>C (p.Thr5776=)
|
rs2098427126
|
|
|
NM_182914.3(SYNE2):c.17329A>G (p.Lys5777Glu)
|
|
|
|
NM_182914.3(SYNE2):c.17352C>A (p.Ile5784=)
|
rs371404598
|
|
|
NM_182914.3(SYNE2):c.17379C>T (p.Asp5793=)
|
|
|
|
NM_182914.3(SYNE2):c.1737C>T (p.Ser579=)
|
|
|
|
NM_182914.3(SYNE2):c.17403G>A (p.Met5801Ile)
|
rs2098427539
|
|
|
NM_182914.3(SYNE2):c.17403G>C (p.Met5801Ile)
|
|
|
|
NM_182914.3(SYNE2):c.17415C>T (p.Phe5805=)
|
|
|
|
NM_182914.3(SYNE2):c.17430+13C>T
|
|
|
|
NM_182914.3(SYNE2):c.17430+18T>G
|
rs2153731336
|
|
|
NM_182914.3(SYNE2):c.17431A>G (p.Thr5811Ala)
|
rs1596007501
|
|
|
NM_182914.3(SYNE2):c.17441A>G (p.Gln5814Arg)
|
|
|
|
NM_182914.3(SYNE2):c.17454A>T (p.Lys5818Asn)
|
|
|
|
NM_182914.3(SYNE2):c.1746A>G (p.Gln582=)
|
rs2096582034
|
|
|
NM_182914.3(SYNE2):c.17474G>C (p.Arg5825Thr)
|
|
|
|
NM_182914.3(SYNE2):c.17523C>A (p.His5841Gln)
|
|
|
|
NM_182914.3(SYNE2):c.17523C>T (p.His5841=)
|
rs202141038
|
|
|
NM_182914.3(SYNE2):c.17526G>C (p.Glu5842Asp)
|
|
|
|
NM_182914.3(SYNE2):c.17539G>C (p.Glu5847Gln)
|
rs201427580
|
|
|
NM_182914.3(SYNE2):c.1753C>T (p.Leu585=)
|
|
|
|
NM_182914.3(SYNE2):c.17546A>G (p.Glu5849Gly)
|
|
|
|
NM_182914.3(SYNE2):c.17549T>C (p.Leu5850Pro)
|
|
|
|
NM_182914.3(SYNE2):c.17552T>G (p.Ile5851Ser)
|
|
|
|
NM_182914.3(SYNE2):c.17554A>C (p.Lys5852Gln)
|
rs886043099
|
|
|
NM_182914.3(SYNE2):c.17556+16C>T
|
|
|
|
NM_182914.3(SYNE2):c.17557-17_17557-15del
|
rs781761095
|
|
|
NM_182914.3(SYNE2):c.17557-4G>T
|
|
|
|
NM_182914.3(SYNE2):c.17557G>A (p.Glu5853Lys)
|
|
|
|
NM_182914.3(SYNE2):c.17557G>C (p.Glu5853Gln)
|
rs1158170304
|
|
|
NM_182914.3(SYNE2):c.17570C>A (p.Ser5857Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.17576C>T (p.Ala5859Val)
|
|
|
|
NM_182914.3(SYNE2):c.17583G>T (p.Trp5861Cys)
|
|
|
|
NM_182914.3(SYNE2):c.17589_17590del (p.Asn5864fs)
|
rs2098491533
|
|
|
NM_182914.3(SYNE2):c.17592C>G (p.Asn5864Lys)
|
|
|
|
NM_182914.3(SYNE2):c.17607A>G (p.Gln5869=)
|
|
|
|
NM_182914.3(SYNE2):c.1760G>T (p.Cys587Phe)
|
rs1555410673
|
|
|
NM_182914.3(SYNE2):c.17611A>G (p.Met5871Val)
|
|
|
|
NM_182914.3(SYNE2):c.17618C>A (p.Ala5873Glu)
|
rs563482043
|
|
|
NM_182914.3(SYNE2):c.17618C>T (p.Ala5873Val)
|
|
|
|
NM_182914.3(SYNE2):c.17629C>T (p.Arg5877Trp)
|
|
|
|
NM_182914.3(SYNE2):c.17640C>T (p.Leu5880=)
|
|
|
|
NM_182914.3(SYNE2):c.17653A>G (p.Met5885Val)
|
|
|
|
NM_182914.3(SYNE2):c.17671A>T (p.Ile5891Leu)
|
|
|
|
NM_182914.3(SYNE2):c.17672T>C (p.Ile5891Thr)
|
rs1208826730
|
|
|
NM_182914.3(SYNE2):c.17685C>T (p.His5895=)
|
rs1596080039
|
|
|
NM_182914.3(SYNE2):c.17707T>C (p.Leu5903=)
|
|
|
|
NM_182914.3(SYNE2):c.17712+10C>G
|
rs2139503640
|
|
|
NM_182914.3(SYNE2):c.17712+1G>T
|
|
|
|
NM_182914.3(SYNE2):c.17712+5G>A
|
|
|
|
NM_182914.3(SYNE2):c.17712G>A (p.Arg5904=)
|
|
|
|
NM_182914.3(SYNE2):c.17713-2A>G
|
|
|
|
NM_182914.3(SYNE2):c.17713-4G>T
|
|
|
|
NM_182914.3(SYNE2):c.17722C>T (p.Arg5908Cys)
|
rs201147247
|
|
|
NM_182914.3(SYNE2):c.17730G>A (p.Gln5910=)
|
rs2139570393
|
|
|
NM_182914.3(SYNE2):c.17737G>A (p.Glu5913Lys)
|
|
|
|
NM_182914.3(SYNE2):c.1774G>C (p.Val592Leu)
|
rs2153473289
|
|
|
NM_182914.3(SYNE2):c.1774G>T (p.Val592Leu)
|
rs2153473289
|
|
|
NM_182914.3(SYNE2):c.17751T>C (p.Asn5917=)
|
rs898812637
|
|
|
NM_182914.3(SYNE2):c.17754A>T (p.Thr5918=)
|
|
|
|
NM_182914.3(SYNE2):c.17768A>G (p.Asn5923Ser)
|
|
|
|
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=)
|
rs572217007
|
|
|
NM_182914.3(SYNE2):c.17812A>G (p.Asn5938Asp)
|
|
|
|
NM_182914.3(SYNE2):c.17814C>T (p.Asn5938=)
|
|
|
|
NM_182914.3(SYNE2):c.17815A>C (p.Lys5939Gln)
|
|
|
|
NM_182914.3(SYNE2):c.1782C>A (p.Asn594Lys)
|
|
|
|
NM_182914.3(SYNE2):c.17836A>T (p.Ile5946Phe)
|
|
|
|
NM_182914.3(SYNE2):c.1786C>A (p.Arg596Ser)
|
|
|
|
NM_182914.3(SYNE2):c.1786C>T (p.Arg596Cys)
|
|
|
|
NM_182914.3(SYNE2):c.17877C>T (p.Cys5959=)
|
rs764653982
|
|
|
NM_182914.3(SYNE2):c.1787G>A (p.Arg596His)
|
rs764379968
|
|
|
NM_182914.3(SYNE2):c.17889A>G (p.Ile5963Met)
|
|
|
|
NM_182914.3(SYNE2):c.17902G>C (p.Glu5968Gln)
|
|
|
|
NM_182914.3(SYNE2):c.17908A>T (p.Lys5970Ter)
|
rs2098511234
|
|
|
NM_182914.3(SYNE2):c.17927T>C (p.Met5976Thr)
|
|
|
|
NM_182914.3(SYNE2):c.1792C>A (p.Leu598Ile)
|
|
|
|
NM_182914.3(SYNE2):c.17935C>G (p.Gln5979Glu)
|
|
|
|
NM_182914.3(SYNE2):c.17940G>T (p.Leu5980Phe)
|
rs778928941
|
|
|
NM_182914.3(SYNE2):c.17953A>G (p.Asn5985Asp)
|
|
|
|
NM_182914.3(SYNE2):c.17964A>G (p.Arg5988=)
|
|
|
|
NM_182914.3(SYNE2):c.17976C>T (p.Ile5992=)
|
|
|
|
NM_182914.3(SYNE2):c.18005G>T (p.Arg6002Leu)
|
rs764566778
|
|
|
NM_182914.3(SYNE2):c.18009G>T (p.Trp6003Cys)
|
|
|
|
NM_182914.3(SYNE2):c.18015T>G (p.His6005Gln)
|
rs1323946751
|
|
|
NM_182914.3(SYNE2):c.18022G>T (p.Asp6008Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.18028A>G (p.Ile6010Val)
|
|
|
|
NM_182914.3(SYNE2):c.18030C>T (p.Ile6010=)
|
|
|
|
NM_182914.3(SYNE2):c.18038+15A>G
|
|
|
|
NM_182914.3(SYNE2):c.18038+16A>G
|
|
|
|
NM_182914.3(SYNE2):c.18039-16C>A
|
|
|
|
NM_182914.3(SYNE2):c.18039-3T>C
|
|
|
|
NM_182914.3(SYNE2):c.18039-4G>A
|
|
|
|
NM_182914.3(SYNE2):c.18039-6G>A
|
|
|
|
NM_182914.3(SYNE2):c.18075G>A (p.Gln6025=)
|
|
|
|
NM_182914.3(SYNE2):c.18085A>G (p.Lys6029Glu)
|
rs1016575974
|
|
|
NM_182914.3(SYNE2):c.18091A>G (p.Met6031Val)
|
rs2098581525
|
|
|
NM_182914.3(SYNE2):c.18098A>C (p.Asn6033Thr)
|
|
|
|
NM_182914.3(SYNE2):c.180C>G (p.Asp60Glu)
|
|
|
|
NM_182914.3(SYNE2):c.18103C>A (p.Arg6035Ser)
|
|
|
|
NM_182914.3(SYNE2):c.18105C>T (p.Arg6035=)
|
|
|
|
NM_182914.3(SYNE2):c.18114G>A (p.Leu6038=)
|
rs1567630913
|
|
|
NM_182914.3(SYNE2):c.18119G>A (p.Arg6040Gln)
|
|
|
|
NM_182914.3(SYNE2):c.18121A>G (p.Ile6041Val)
|
rs886050597
|
|
|
NM_182914.3(SYNE2):c.18137C>A (p.Ser6046Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.18139A>G (p.Lys6047Glu)
|
|
|
|
NM_182914.3(SYNE2):c.18145GTT[1] (p.Val6050del)
|
|
|
|
NM_182914.3(SYNE2):c.18148G>A (p.Val6050Ile)
|
|
|
|
NM_182914.3(SYNE2):c.18165T>A (p.Asp6055Glu)
|
rs1567631199
|
|
|
NM_182914.3(SYNE2):c.18169C>G (p.Gln6057Glu)
|
rs919132800
|
|
|
NM_182914.3(SYNE2):c.1816A>C (p.Lys606Gln)
|
|
|
|
NM_182914.3(SYNE2):c.18189C>T (p.Leu6063=)
|
|
|
|
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr)
|
rs182079744
|
|
|
NM_182914.3(SYNE2):c.18190G>T (p.Ala6064Ser)
|
rs182079744
|
|
|
NM_182914.3(SYNE2):c.18201+11C>T
|
|
|
|
NM_182914.3(SYNE2):c.18202-10G>A
|
rs754429236
|
|
|
NM_182914.3(SYNE2):c.18202-6T>C
|
|
|
|
NM_182914.3(SYNE2):c.18205C>A (p.Leu6069Ile)
|
|
|
|
NM_182914.3(SYNE2):c.1823A>G (p.Glu608Gly)
|
rs765250294
|
|
|
NM_182914.3(SYNE2):c.18262G>A (p.Asp6088Asn)
|
|
|
|
NM_182914.3(SYNE2):c.18271C>T (p.Leu6091=)
|
|
|
|
NM_182914.3(SYNE2):c.18274C>T (p.His6092Tyr)
|
rs891176573
|
|
|
NM_182914.3(SYNE2):c.18302C>T (p.Thr6101Ile)
|
|
|
|
NM_182914.3(SYNE2):c.18312C>T (p.Asp6104=)
|
|
|
|
NM_182914.3(SYNE2):c.18312_18316del (p.Ser6105fs)
|
rs1177756267
|
|
|
NM_182914.3(SYNE2):c.18314C>T (p.Ser6105Leu)
|
|
|
|
NM_182914.3(SYNE2):c.18324G>T (p.Gln6108His)
|
rs1761645258
|
|
|
NM_182914.3(SYNE2):c.18326C>T (p.Thr6109Ile)
|
rs1248550076
|
|
|
NM_182914.3(SYNE2):c.18329C>A (p.Thr6110Asn)
|
|
|
|
NM_182914.3(SYNE2):c.18343A>C (p.Arg6115=)
|
|
|
|
NM_182914.3(SYNE2):c.18347G>A (p.Arg6116His)
|
|
|
|
NM_182914.3(SYNE2):c.1837-11G>A
|
rs770407054
|
|
|
NM_182914.3(SYNE2):c.1837-20G>A
|
|
|
|
NM_182914.3(SYNE2):c.1837-5T>C
|
|
|
|
NM_182914.3(SYNE2):c.18389+15C>G
|
|
|
|
NM_182914.3(SYNE2):c.18389+8C>T
|
rs748398363
|
|
|
NM_182914.3(SYNE2):c.18390A>G (p.Lys6130=)
|
|
|
|
NM_182914.3(SYNE2):c.18394G>A (p.Glu6132Lys)
|
|
|
|
NM_182914.3(SYNE2):c.18394GAG[1] (p.Glu6133del)
|
|
|
|
NM_182914.3(SYNE2):c.18401C>T (p.Thr6134Met)
|
|
|
|
NM_182914.3(SYNE2):c.18417G>A (p.Gln6139=)
|
rs371461730
|
|
|
NM_182914.3(SYNE2):c.18417G>T (p.Gln6139His)
|
|
|
|
NM_182914.3(SYNE2):c.18427G>A (p.Asp6143Asn)
|
rs2140144167
|
|
|
NM_182914.3(SYNE2):c.18434A>G (p.Tyr6145Cys)
|
|
|
|
NM_182914.3(SYNE2):c.18464C>T (p.Ala6155Val)
|
|
|
|
NM_182914.3(SYNE2):c.18471G>T (p.Arg6157Ser)
|
|
|
|
NM_182914.3(SYNE2):c.18473C>G (p.Thr6158Arg)
|
|
|
|
NM_182914.3(SYNE2):c.18495A>G (p.Ser6165=)
|
|
|
|
NM_182914.3(SYNE2):c.18497A>T (p.Glu6166Val)
|
|
|
|
NM_182914.3(SYNE2):c.18528G>C (p.Leu6176=)
|
|
|
|
NM_182914.3(SYNE2):c.18541-4G>A
|
rs777089980
|
|
|
NM_182914.3(SYNE2):c.18541-5T>C
|
|
|
|
NM_182914.3(SYNE2):c.18541-6A>G
|
|
|
|
NM_182914.3(SYNE2):c.18541-9G>A
|
rs886050598
|
|
|
NM_182914.3(SYNE2):c.18549G>T (p.Gln6183His)
|
|
|
|
NM_182914.3(SYNE2):c.18553C>T (p.Gln6185Ter)
|
rs1171077128
|
|
|
NM_182914.3(SYNE2):c.18559C>T (p.His6187Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.18560A>G (p.His6187Arg)
|
|
|
|
NM_182914.3(SYNE2):c.18576G>A (p.Gln6192=)
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|
NM_182914.3(SYNE2):c.18576G>C (p.Gln6192His)
|
|
|
|
NM_182914.3(SYNE2):c.18601C>A (p.Arg6201=)
|
rs151081811
|
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|
NM_182914.3(SYNE2):c.18601C>G (p.Arg6201Gly)
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|
|
NM_182914.3(SYNE2):c.18601C>T (p.Arg6201Trp)
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|
NM_182914.3(SYNE2):c.18606G>T (p.Arg6202=)
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|
NM_182914.3(SYNE2):c.1860G>C (p.Gln620His)
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NM_182914.3(SYNE2):c.18614G>A (p.Arg6205Gln)
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|
|
NM_182914.3(SYNE2):c.18621C>T (p.Asn6207=)
|
rs929148063
|
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|
NM_182914.3(SYNE2):c.18640A>G (p.Arg6214Gly)
|
rs2098631907
|
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|
NM_182914.3(SYNE2):c.18653T>C (p.Met6218Thr)
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|
|
NM_182914.3(SYNE2):c.18661G>A (p.Glu6221Lys)
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|
NM_182914.3(SYNE2):c.18662A>G (p.Glu6221Gly)
|
rs1410409309
|
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NM_182914.3(SYNE2):c.18674G>A (p.Arg6225His)
|
rs749491228
|
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NM_182914.3(SYNE2):c.18674G>T (p.Arg6225Leu)
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|
NM_182914.3(SYNE2):c.1867C>G (p.Leu623Val)
|
rs886050579
|
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NM_182914.3(SYNE2):c.18691A>G (p.Arg6231Gly)
|
rs2098632167
|
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|
NM_182914.3(SYNE2):c.18705C>G (p.Ala6235=)
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|
NM_182914.3(SYNE2):c.18708C>G (p.Val6236=)
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NM_182914.3(SYNE2):c.18724-10A>G
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NM_182914.3(SYNE2):c.18724-11C>A
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NM_182914.3(SYNE2):c.18724-11C>G
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NM_182914.3(SYNE2):c.18724-6T>C
|
rs2140199846
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NM_182914.3(SYNE2):c.18767G>A (p.Ser6256Asn)
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|
NM_182914.3(SYNE2):c.1876G>A (p.Ala626Thr)
|
rs766378548
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NM_182914.3(SYNE2):c.18789_18790del (p.Glu6263fs)
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|
NM_182914.3(SYNE2):c.18796C>G (p.Leu6266Val)
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NM_182914.3(SYNE2):c.18797T>G (p.Leu6266Arg)
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NM_182914.3(SYNE2):c.1879A>G (p.Thr627Ala)
|
rs1189381604
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NM_182914.3(SYNE2):c.1880C>A (p.Thr627Asn)
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|
NM_182914.3(SYNE2):c.1881T>A (p.Thr627=)
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NM_182914.3(SYNE2):c.18826G>A (p.Glu6276Lys)
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NM_182914.3(SYNE2):c.18829A>G (p.Ser6277Gly)
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|
NM_182914.3(SYNE2):c.1882T>G (p.Leu628Val)
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|
NM_182914.3(SYNE2):c.18837C>T (p.Ala6279=)
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|
NM_182914.3(SYNE2):c.18838G>A (p.Asp6280Asn)
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|
NM_182914.3(SYNE2):c.18847A>T (p.Met6283Leu)
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|
NM_182914.3(SYNE2):c.18861T>C (p.Asn6287=)
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|
|
|
NM_182914.3(SYNE2):c.18862-13C>T
|
|
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|
NM_182914.3(SYNE2):c.18862-20T>C
|
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|
NM_182914.3(SYNE2):c.18874G>C (p.Glu6292Gln)
|
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|
|
NM_182914.3(SYNE2):c.18877A>G (p.Ile6293Val)
|
|
|
|
NM_182914.3(SYNE2):c.18889A>T (p.Thr6297Ser)
|
|
|
|
NM_182914.3(SYNE2):c.18911T>C (p.Ile6304Thr)
|
|
|
|
NM_182914.3(SYNE2):c.18922G>A (p.Glu6308Lys)
|
|
|
|
NM_182914.3(SYNE2):c.18941G>T (p.Ser6314Ile)
|
rs548600640
|
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|
NM_182914.3(SYNE2):c.18942C>T (p.Ser6314=)
|
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|
NM_182914.3(SYNE2):c.18943G>A (p.Glu6315Lys)
|
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|
NM_182914.3(SYNE2):c.18951G>A (p.Leu6317=)
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|
NM_182914.3(SYNE2):c.18987C>G (p.Leu6329=)
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|
NM_182914.3(SYNE2):c.18991C>T (p.Arg6331Cys)
|
|
|
|
NM_182914.3(SYNE2):c.18998G>A (p.Cys6333Tyr)
|
rs768044506
|
|
|
NM_182914.3(SYNE2):c.18G>C (p.Glu6Asp)
|
rs2095442604
|
|
|
NM_182914.3(SYNE2):c.19002G>A (p.Gln6334=)
|
|
|
|
NM_182914.3(SYNE2):c.19011T>G (p.Phe6337Leu)
|
rs761432348
|
|
|
NM_182914.3(SYNE2):c.19016G>A (p.Arg6339Lys)
|
|
|
|
NM_182914.3(SYNE2):c.19037G>T (p.Arg6346Leu)
|
rs144633663
|
|
|
NM_182914.3(SYNE2):c.1903T>G (p.Leu635Val)
|
|
|
|
NM_182914.3(SYNE2):c.19055C>T (p.Pro6352Leu)
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|
NM_182914.3(SYNE2):c.19056+3A>T
|
|
|
|
NM_182914.3(SYNE2):c.1909G>A (p.Glu637Lys)
|
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|
NM_182914.3(SYNE2):c.19115A>T (p.Glu6372Val)
|
|
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|
NM_182914.3(SYNE2):c.19159C>A (p.Pro6387Thr)
|
|
|
|
NM_182914.3(SYNE2):c.19167T>C (p.Ser6389=)
|
rs747527253
|
|
|
NM_182914.3(SYNE2):c.19179G>C (p.Leu6393=)
|
rs2140246772
|
|
|
NM_182914.3(SYNE2):c.19199G>T (p.Gly6400Val)
|
|
|
|
NM_182914.3(SYNE2):c.19200G>A (p.Gly6400=)
|
rs369292348
|
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|
NM_182914.3(SYNE2):c.19219G>A (p.Glu6407Lys)
|
|
|
|
NM_182914.3(SYNE2):c.19233C>T (p.Ser6411=)
|
|
|
|
NM_182914.3(SYNE2):c.19275G>A (p.Val6425=)
|
rs772092387
|
|
|
NM_182914.3(SYNE2):c.19275G>C (p.Val6425=)
|
rs772092387
|
|
|
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=)
|
rs772092387
|
|
|
NM_182914.3(SYNE2):c.19276G>C (p.Gly6426Arg)
|
|
|
|
NM_182914.3(SYNE2):c.19279G>A (p.Gly6427Ser)
|
|
|
|
NM_182914.3(SYNE2):c.19289C>G (p.Ser6430Cys)
|
rs2098656312
|
|
|
NM_182914.3(SYNE2):c.19296A>G (p.Glu6432=)
|
|
|
|
NM_182914.3(SYNE2):c.19297G>C (p.Glu6433Gln)
|
|
|
|
NM_182914.3(SYNE2):c.19309G>A (p.Gly6437Ser)
|
|
|
|
NM_182914.3(SYNE2):c.1930_1931delinsAA (p.Gly644Lys)
|
|
|
|
NM_182914.3(SYNE2):c.19310G>A (p.Gly6437Asp)
|
rs1555551887
|
|
|
NM_182914.3(SYNE2):c.19324G>A (p.Ala6442Thr)
|
|
|
|
NM_182914.3(SYNE2):c.19328T>C (p.Leu6443Pro)
|
rs1555551908
|
|
|
NM_182914.3(SYNE2):c.19336G>A (p.Val6446Ile)
|
|
|
|
NM_182914.3(SYNE2):c.1933T>A (p.Ser645Thr)
|
rs770407837
|
|
|
NM_182914.3(SYNE2):c.1933T>C (p.Ser645Pro)
|
|
|
|
NM_182914.3(SYNE2):c.19345C>A (p.Pro6449Thr)
|
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|
NM_182914.3(SYNE2):c.19346C>G (p.Pro6449Arg)
|
|
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|
NM_182914.3(SYNE2):c.19357G>A (p.Glu6453Lys)
|
|
|
|
NM_182914.3(SYNE2):c.1935A>G (p.Ser645=)
|
|
|
|
NM_182914.3(SYNE2):c.1937C>G (p.Ser646Cys)
|
|
|
|
NM_182914.3(SYNE2):c.19391A>C (p.Lys6464Thr)
|
rs1555552449
|
|
|
NM_182914.3(SYNE2):c.19395G>A (p.Ala6465=)
|
|
|
|
NM_182914.3(SYNE2):c.19400C>T (p.Ser6467Phe)
|
|
|
|
NM_182914.3(SYNE2):c.19402+10C>T
|
rs759119344
|
|
|
NM_182914.3(SYNE2):c.19402+11G>A
|
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|
NM_182914.3(SYNE2):c.19402+13C>T
|
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|
NM_182914.3(SYNE2):c.19402+14del
|
rs754629074
|
|
|
NM_182914.3(SYNE2):c.19402+18C>T
|
rs2140269081
|
|
|
NM_182914.3(SYNE2):c.19402+20T>C
|
|
|
|
NM_182914.3(SYNE2):c.19402+7C>G
|
rs1435729964
|
|
|
NM_182914.3(SYNE2):c.19403-17G>T
|
|
|
|
NM_182914.3(SYNE2):c.19403-1G>C
|
|
|
|
NM_182914.3(SYNE2):c.19416G>A (p.Ser6472=)
|
|
|
|
NM_182914.3(SYNE2):c.19417G>A (p.Asp6473Asn)
|
|
|
|
NM_182914.3(SYNE2):c.19419T>C (p.Asp6473=)
|
rs1222194629
|
|
|
NM_182914.3(SYNE2):c.19441G>A (p.Asp6481Asn)
|
rs202052357
|
|
|
NM_182914.3(SYNE2):c.19441G>C (p.Asp6481His)
|
rs202052357
|
|
|
NM_182914.3(SYNE2):c.19465C>T (p.His6489Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.19493A>T (p.Asn6498Ile)
|
|
|
|
NM_182914.3(SYNE2):c.19512T>C (p.Pro6504=)
|
rs945745890
|
|
|
NM_182914.3(SYNE2):c.19515G>A (p.Ala6505=)
|
|
|
|
NM_182914.3(SYNE2):c.19523C>G (p.Thr6508Ser)
|
rs2098666518
|
|
|
NM_182914.3(SYNE2):c.19524C>A (p.Thr6508=)
|
|
|
|
NM_182914.3(SYNE2):c.19524C>T (p.Thr6508=)
|
|
|
|
NM_182914.3(SYNE2):c.19538C>G (p.Pro6513Arg)
|
|
|
|
NM_182914.3(SYNE2):c.19538C>T (p.Pro6513Leu)
|
|
|
|
NM_182914.3(SYNE2):c.19539del (p.Tyr6514fs)
|
rs2140289822
|
|
|
NM_182914.3(SYNE2):c.19541A>G (p.Tyr6514Cys)
|
|
|
|
NM_182914.3(SYNE2):c.19542+10_19542+11delinsGT
|
|
|
|
NM_182914.3(SYNE2):c.19543-8C>A
|
rs746189092
|
|
|
NM_182914.3(SYNE2):c.19543G>A (p.Gly6515Arg)
|
|
|
|
NM_182914.3(SYNE2):c.19549CTA[1] (p.Leu6519del)
|
rs886043261
|
|
|
NM_182914.3(SYNE2):c.19558C>G (p.Pro6520Ala)
|
rs2098676992
|
|
|
NM_182914.3(SYNE2):c.19560T>C (p.Pro6520=)
|
rs2140328414
|
|
|
NM_182914.3(SYNE2):c.19561C>G (p.Pro6521Ala)
|
|
|
|
NM_182914.3(SYNE2):c.19568C>T (p.Thr6523Met)
|
|
|
|
NM_182914.3(SYNE2):c.19570G>C (p.Asp6524His)
|
|
|
|
NM_182914.3(SYNE2):c.19600A>G (p.Asn6534Asp)
|
|
|
|
NM_182914.3(SYNE2):c.19601A>G (p.Asn6534Ser)
|
|
|
|
NM_182914.3(SYNE2):c.19620A>G (p.Glu6540=)
|
rs755594887
|
|
|
NM_182914.3(SYNE2):c.19628G>T (p.Gly6543Val)
|
|
|
|
NM_182914.3(SYNE2):c.19630C>G (p.Leu6544Val)
|
|
|
|
NM_182914.3(SYNE2):c.19641C>T (p.Ile6547=)
|
|
|
|
NM_182914.3(SYNE2):c.19644A>G (p.Thr6548=)
|
|
|
|
NM_182914.3(SYNE2):c.19646A>G (p.Glu6549Gly)
|
rs1567679516
|
|
|
NM_182914.3(SYNE2):c.19658-16G>A
|
|
|
|
NM_182914.3(SYNE2):c.19658-17C>T
|
|
|
|
NM_182914.3(SYNE2):c.19658-4C>A
|
|
|
|
NM_182914.3(SYNE2):c.19658-9dup
|
|
|
|
NM_182914.3(SYNE2):c.19658G>A (p.Gly6553Asp)
|
rs1005373982
|
|
|
NM_182914.3(SYNE2):c.19684C>A (p.Gln6562Lys)
|
|
|
|
NM_182914.3(SYNE2):c.19684C>G (p.Gln6562Glu)
|
|
|
|
NM_182914.3(SYNE2):c.19691A>G (p.Gln6564Arg)
|
rs1567682749
|
|
|
NM_182914.3(SYNE2):c.19697T>C (p.Leu6566Pro)
|
|
|
|
NM_182914.3(SYNE2):c.19699C>G (p.His6567Asp)
|
|
|
|
NM_182914.3(SYNE2):c.1969A>G (p.Arg657Gly)
|
|
|
|
NM_182914.3(SYNE2):c.19701C>T (p.His6567=)
|
rs1432528248
|
|
|
NM_182914.3(SYNE2):c.19703A>G (p.Asn6568Ser)
|
|
|
|
NM_182914.3(SYNE2):c.19723_19724del (p.Asn6575fs)
|
rs2140352990
|
|
|
NM_182914.3(SYNE2):c.19734G>A (p.Gln6578=)
|
rs1390602240
|
|
|
NM_182914.3(SYNE2):c.19738A>G (p.Asn6580Asp)
|
|
|
|
NM_182914.3(SYNE2):c.19741T>G (p.Ser6581Ala)
|
rs2140353373
|
|
|
NM_182914.3(SYNE2):c.19745A>G (p.Asp6582Gly)
|
|
|
|
NM_182914.3(SYNE2):c.19752C>G (p.Ser6584Arg)
|
|
|
|
NM_182914.3(SYNE2):c.19753G>A (p.Ala6585Thr)
|
|
|
|
NM_182914.3(SYNE2):c.19763C>T (p.Thr6588Ile)
|
rs752030533
|
|
|
NM_182914.3(SYNE2):c.19780G>A (p.Glu6594Lys)
|
|
|
|
NM_182914.3(SYNE2):c.19783G>A (p.Ala6595Thr)
|
|
|
|
NM_182914.3(SYNE2):c.19802A>G (p.Lys6601Arg)
|
|
|
|
NM_182914.3(SYNE2):c.19806_19813del (p.Met6602fs)
|
rs2098683425
|
|
|
NM_182914.3(SYNE2):c.19809A>G (p.Ala6603=)
|
|
|
|
NM_182914.3(SYNE2):c.1984G>C (p.Val662Leu)
|
|
|
|
NM_182914.3(SYNE2):c.19850A>G (p.Lys6617Arg)
|
|
|
|
NM_182914.3(SYNE2):c.19860+16G>C
|
|
|
|
NM_182914.3(SYNE2):c.19861G>A (p.Glu6621Lys)
|
|
|
|
NM_182914.3(SYNE2):c.19864A>G (p.Ile6622Val)
|
|
|
|
NM_182914.3(SYNE2):c.19894T>C (p.Leu6632=)
|
|
|
|
NM_182914.3(SYNE2):c.19902C>T (p.Val6634=)
|
rs1281358104
|
|
|
NM_182914.3(SYNE2):c.19903T>C (p.Ser6635Pro)
|
|
|
|
NM_182914.3(SYNE2):c.19914G>C (p.Val6638=)
|
|
|
|
NM_182914.3(SYNE2):c.19920C>A (p.Ser6640Arg)
|
|
|
|
NM_182914.3(SYNE2):c.19933C>G (p.Gln6645Glu)
|
|
|
|
NM_182914.3(SYNE2):c.19935A>C (p.Gln6645His)
|
|
|
|
NM_182914.3(SYNE2):c.19944C>T (p.Ser6648=)
|
rs1360220384
|
|
|
NM_182914.3(SYNE2):c.19946C>T (p.Pro6649Leu)
|
|
|
|
NM_182914.3(SYNE2):c.19947C>G (p.Pro6649=)
|
|
|
|
NM_182914.3(SYNE2):c.19947C>T (p.Pro6649=)
|
|
|
|
NM_182914.3(SYNE2):c.19967G>C (p.Ser6656Thr)
|
|
|
|
NM_182914.3(SYNE2):c.19968T>C (p.Ser6656=)
|
|
|
|
NM_182914.3(SYNE2):c.1996C>A (p.Gln666Lys)
|
rs1488229138
|
|
|
NM_182914.3(SYNE2):c.19973T>A (p.Leu6658His)
|
rs1555558485
|
|
|
NM_182914.3(SYNE2):c.19974C>G (p.Leu6658=)
|
|
|
|
NM_182914.3(SYNE2):c.19976G>A (p.Arg6659His)
|
|
|
|
NM_182914.3(SYNE2):c.19981C>T (p.Leu6661=)
|
|
|
|
NM_182914.3(SYNE2):c.19985G>T (p.Ser6662Ile)
|
rs2098689595
|
|
|
NM_182914.3(SYNE2):c.19986C>G (p.Ser6662Arg)
|
|
|
|
NM_182914.3(SYNE2):c.2001+8C>A
|
rs1594650966
|
|
|
NM_182914.3(SYNE2):c.2001+8C>G
|
|
|
|
NM_182914.3(SYNE2):c.20010C>T (p.Gly6670=)
|
rs748703042
|
|
|
NM_182914.3(SYNE2):c.20016G>A (p.Val6672=)
|
rs2140383197
|
|
|
NM_182914.3(SYNE2):c.2002-12T>G
|
|
|
|
NM_182914.3(SYNE2):c.2002-6G>A
|
|
|
|
NM_182914.3(SYNE2):c.20021G>A (p.Ser6674Asn)
|
|
|
|
NM_182914.3(SYNE2):c.20029G>A (p.Gly6677Arg)
|
rs767622970
|
|
|
NM_182914.3(SYNE2):c.20031G>A (p.Gly6677=)
|
|
|
|
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala)
|
rs140676416
|
|
|
NM_182914.3(SYNE2):c.20038C>G (p.Arg6680Gly)
|
rs753598628
|
|
|
NM_182914.3(SYNE2):c.20038C>T (p.Arg6680Ter)
|
rs753598628
|
|
|
NM_182914.3(SYNE2):c.20041C>T (p.Gln6681Ter)
|
rs2098689813
|
|
|
NM_182914.3(SYNE2):c.20043G>A (p.Gln6681=)
|
rs938735293
|
|
|
NM_182914.3(SYNE2):c.20046G>A (p.Ser6682=)
|
|
|
|
NM_182914.3(SYNE2):c.20049C>T (p.Leu6683=)
|
|
|
|
NM_182914.3(SYNE2):c.20061+10C>G
|
rs2098689996
|
|
|
NM_182914.3(SYNE2):c.20062-4dup
|
|
|
|
NM_182914.3(SYNE2):c.20064C>T (p.Asp6688=)
|
|
|
|
NM_182914.3(SYNE2):c.20068C>T (p.His6690Tyr)
|
rs908836747
|
|
|
NM_182914.3(SYNE2):c.2009A>G (p.Asn670Ser)
|
|
|
|
NM_182914.3(SYNE2):c.20102C>T (p.Ala6701Val)
|
rs769553105
|
|
|
NM_182914.3(SYNE2):c.20116C>A (p.Arg6706=)
|
|
|
|
NM_182914.3(SYNE2):c.20118G>C (p.Arg6706=)
|
|
|
|
NM_182914.3(SYNE2):c.20131C>T (p.His6711Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.20144C>T (p.Pro6715Leu)
|
|
|
|
NM_182914.3(SYNE2):c.20150C>G (p.Ala6717Gly)
|
|
|
|
NM_182914.3(SYNE2):c.20150C>T (p.Ala6717Val)
|
|
|
|
NM_182914.3(SYNE2):c.20160G>T (p.Arg6720=)
|
|
|
|
NM_182914.3(SYNE2):c.20172_20173insAAGCCAAATGACTTGCAGGAATGGAGAGCCACAGTCCACAGAACTGAGGACATAGGTGCTCTCGATATCC (p.Cys6725fs)
|
rs1567693129
|
|
|
NM_182914.3(SYNE2):c.20191-8G>C
|
rs1596324923
|
|
|
NM_182914.3(SYNE2):c.20253C>T (p.Asn6751=)
|
rs867115050
|
|
|
NM_182914.3(SYNE2):c.20257C>T (p.Leu6753Phe)
|
rs2140451342
|
|
|
NM_182914.3(SYNE2):c.20296GAA[1] (p.Glu6767del)
|
rs2098703250
|
|
|
NM_182914.3(SYNE2):c.2031dup (p.Gln678fs)
|
rs750736888
|
|
|
NM_182914.3(SYNE2):c.20338C>A (p.Arg6780=)
|
rs138437515
|
|
|
NM_182914.3(SYNE2):c.20338C>G (p.Arg6780Gly)
|
rs138437515
|
|
|
NM_182914.3(SYNE2):c.20338C>T (p.Arg6780Trp)
|
rs138437515
|
|
|
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln)
|
rs202240664
|
|
|
NM_182914.3(SYNE2):c.20339G>T (p.Arg6780Leu)
|
|
|
|
NM_182914.3(SYNE2):c.20366C>A (p.Ala6789Asp)
|
rs765411016
|
|
|
NM_182914.3(SYNE2):c.2037T>G (p.Asp679Glu)
|
|
|
|
NM_182914.3(SYNE2):c.20382+13G>A
|
|
|
|
NM_182914.3(SYNE2):c.20382+1G>A
|
rs113757671
|
|
|
NM_182914.3(SYNE2):c.20383-15G>T
|
rs886050600
|
|
|
NM_182914.3(SYNE2):c.20387C>T (p.Pro6796Leu)
|
|
|
|
NM_182914.3(SYNE2):c.20395C>T (p.Pro6799Ser)
|
|
|
|
NM_182914.3(SYNE2):c.20403C>A (p.Pro6801=)
|
|
|
|
NM_182914.3(SYNE2):c.20411_20412delinsTG (p.Asp6804Val)
|
|
|
|
NM_182914.3(SYNE2):c.20440G>C (p.Ala6814Pro)
|
|
|
|
NM_182914.3(SYNE2):c.20449G>A (p.Val6817Met)
|
rs202235545
|
|
|
NM_182914.3(SYNE2):c.20449G>T (p.Val6817Leu)
|
rs202235545
|
|
|
NM_182914.3(SYNE2):c.2044A>C (p.Thr682Pro)
|
rs1594659210
|
|
|
NM_182914.3(SYNE2):c.20461C>T (p.Arg6821Ter)
|
rs1423117372
|
|
|
NM_182914.3(SYNE2):c.20469+15C>G
|
rs374908266
|
|
|
NM_182914.3(SYNE2):c.20469+8G>T
|
|
|
|
NM_182914.3(SYNE2):c.20470-1G>T
|
|
|
|
NM_182914.3(SYNE2):c.20470-40_20470-18del
|
rs2140501772
|
|
|
NM_182914.3(SYNE2):c.20470-7C>G
|
rs1555563835
|
|
|
NM_182914.3(SYNE2):c.20472C>T (p.Phe6824=)
|
rs1567706037
|
|
|
NM_182914.3(SYNE2):c.20494G>A (p.Gly6832Ser)
|
rs368740030
|
|
|
NM_182914.3(SYNE2):c.20497GAG[2] (p.Glu6835del)
|
rs780096549
|
|
|
NM_182914.3(SYNE2):c.20499_20516+4dup
|
rs2098712389
|
|
|
NM_182914.3(SYNE2):c.20500G>A (p.Glu6834Lys)
|
|
|
|
NM_182914.3(SYNE2):c.20516+17G>A
|
|
|
|
NM_182914.3(SYNE2):c.20516+18T>C
|
rs2098712580
|
|
|
NM_182914.3(SYNE2):c.20516+18_20516+21dup
|
rs2140505248
|
|
|
NM_182914.3(SYNE2):c.20516+5C>T
|
|
|
|
NM_182914.3(SYNE2):c.20517-12C>T
|
|
|
|
NM_182914.3(SYNE2):c.20517-15C>G
|
|
|
|
NM_182914.3(SYNE2):c.20517-15C>T
|
|
|
|
NM_182914.3(SYNE2):c.20517-19C>A
|
rs375356310
|
|
|
NM_182914.3(SYNE2):c.20517-20T>G
|
|
|
|
NM_182914.3(SYNE2):c.20519T>G (p.Val6840Gly)
|
|
|
|
NM_182914.3(SYNE2):c.20521C>T (p.Pro6841Ser)
|
rs1356063795
|
|
|
NM_182914.3(SYNE2):c.20524G>A (p.Gly6842Ser)
|
rs201538331
|
|
|
NM_182914.3(SYNE2):c.20533C>T (p.Arg6845Trp)
|
|
|
|
NM_182914.3(SYNE2):c.20534G>A (p.Arg6845Gln)
|
|
|
|
NM_182914.3(SYNE2):c.2054A>G (p.Asn685Ser)
|
|
|
|
NM_182914.3(SYNE2):c.20551C>G (p.Leu6851Val)
|
rs564532190
|
|
|
NM_182914.3(SYNE2):c.20551C>T (p.Leu6851Phe)
|
rs564532190
|
|
|
NM_182914.3(SYNE2):c.20553C>T (p.Leu6851=)
|
|
|
|
NM_182914.3(SYNE2):c.20562G>T (p.Val6854=)
|
rs755188684
|
|
|
NM_182914.3(SYNE2):c.20566C>T (p.Arg6856Trp)
|
|
|
|
NM_182914.3(SYNE2):c.20567G>T (p.Arg6856Leu)
|
rs756327978
|
|
|
NM_182914.3(SYNE2):c.20570C>T (p.Ala6857Val)
|
|
|
|
NM_182914.3(SYNE2):c.20578C>A (p.Pro6860Thr)
|
rs1284163131
|
|
|
NM_182914.3(SYNE2):c.20595_20612del (p.Leu6866_Leu6871del)
|
rs750984033
|
|
|
NM_182914.3(SYNE2):c.20598G>A (p.Leu6866=)
|
rs369949914
|
|
|
NM_182914.3(SYNE2):c.20598G>C (p.Leu6866=)
|
rs369949914
|
|
|
NM_182914.3(SYNE2):c.20598GCT[1] (p.Leu6869_Leu6871del)
|
|
|
|
NM_182914.3(SYNE2):c.20601G>A (p.Leu6867=)
|
|
|
|
NM_182914.3(SYNE2):c.20602_20603dup (p.Leu6869fs)
|
|
|
|
NM_182914.3(SYNE2):c.20608C>T (p.Leu6870Phe)
|
|
|
|
NM_182914.3(SYNE2):c.20610C>T (p.Leu6870=)
|
|
|
|
NM_182914.3(SYNE2):c.20619C>G (p.Cys6873Trp)
|
|
|
|
NM_182914.3(SYNE2):c.20632_20634delinsGAA (p.Ser6878Glu)
|
rs1555564487
|
|
|
NM_182914.3(SYNE2):c.20634C>A (p.Ser6878=)
|
rs143162390
|
|
|
NM_182914.3(SYNE2):c.20634C>T (p.Ser6878=)
|
rs143162390
|
|
|
NM_182914.3(SYNE2):c.20635G>A (p.Glu6879Lys)
|
rs371152824
|
|
|
NM_182914.3(SYNE2):c.20635G>C (p.Glu6879Gln)
|
|
|
|
NM_182914.3(SYNE2):c.20636A>T (p.Glu6879Val)
|
rs757149542
|
|
|
NM_182914.3(SYNE2):c.20637AGA[1] (p.Glu6880del)
|
rs781275793
|
|
|
NM_182914.3(SYNE2):c.20641G>C (p.Asp6881His)
|
rs1345320685
|
|
|
NM_182914.3(SYNE2):c.20652C>T (p.Cys6884=)
|
|
|
|
NM_182914.3(SYNE2):c.20654C>G (p.Thr6885Ser)
|
rs1596340525
|
|
|
NM_182914.3(SYNE2):c.20674C>T (p.Arg6892Trp)
|
rs534020975
|
|
|
NM_182914.3(SYNE2):c.20675G>A (p.Arg6892Gln)
|
rs774785412
|
|
|
NM_182914.3(SYNE2):c.20693T>G (p.Leu6898Arg)
|
rs2098715170
|
|
|
NM_182914.3(SYNE2):c.20697G>A (p.Arg6899=)
|
|
|
|
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=)
|
rs79037871
|
|
|
NM_182914.3(SYNE2):c.20711C>T (p.Pro6904Leu)
|
|
|
|
NM_182914.3(SYNE2):c.20718C>A (p.Pro6906=)
|
rs547101639
|
|
|
NM_182914.3(SYNE2):c.20718C>T (p.Pro6906=)
|
rs547101639
|
|
|
NM_182914.3(SYNE2):c.20718dup (p.Thr6907fs)
|
|
|
|
NM_182914.3(SYNE2):c.20721A>G (p.Thr6907=)
|
rs886050601
|
|
|
NM_182914.3(SYNE2):c.207T>C (p.Asp69=)
|
rs2153417448
|
|
|
NM_182914.3(SYNE2):c.2082G>T (p.Glu694Asp)
|
rs2096604651
|
|
|
NM_182914.3(SYNE2):c.2119G>C (p.Glu707Gln)
|
|
|
|
NM_182914.3(SYNE2):c.2125C>T (p.Pro709Ser)
|
rs749973572
|
|
|
NM_182914.3(SYNE2):c.2133T>C (p.Asn711=)
|
|
|
|
NM_182914.3(SYNE2):c.2151+15C>T
|
|
|
|
NM_182914.3(SYNE2):c.2151+1G>T
|
|
|
|
NM_182914.3(SYNE2):c.2152-11G>A
|
|
|
|
NM_182914.3(SYNE2):c.2152-12T>C
|
|
|
|
NM_182914.3(SYNE2):c.2156G>C (p.Gly719Ala)
|
rs2096626654
|
|
|
NM_182914.3(SYNE2):c.2158G>A (p.Glu720Lys)
|
|
|
|
NM_182914.3(SYNE2):c.2165A>G (p.His722Arg)
|
|
|
|
NM_182914.3(SYNE2):c.2191G>A (p.Gly731Arg)
|
|
|
|
NM_182914.3(SYNE2):c.2198T>G (p.Leu733Arg)
|
|
|
|
NM_182914.3(SYNE2):c.2203G>A (p.Val735Met)
|
rs994577244
|
|
|
NM_182914.3(SYNE2):c.2233C>G (p.Gln745Glu)
|
rs2153479422
|
|
|
NM_182914.3(SYNE2):c.2279A>G (p.Asp760Gly)
|
rs1594681467
|
|
|
NM_182914.3(SYNE2):c.2284G>A (p.Val762Met)
|
|
|
|
NM_182914.3(SYNE2):c.2291C>T (p.Thr764Ile)
|
rs2153479469
|
|
|
NM_182914.3(SYNE2):c.2304A>G (p.Glu768=)
|
|
|
|
NM_182914.3(SYNE2):c.2313+1G>A
|
rs2096627723
|
|
|
NM_182914.3(SYNE2):c.2314-10G>A
|
|
|
|
NM_182914.3(SYNE2):c.2314-12T>G
|
|
|
|
NM_182914.3(SYNE2):c.2314-14A>G
|
|
|
|
NM_182914.3(SYNE2):c.2314-3T>C
|
|
|
|
NM_182914.3(SYNE2):c.231A>G (p.Gln77=)
|
|
|
|
NM_182914.3(SYNE2):c.2330G>T (p.Gly777Val)
|
|
|
|
NM_182914.3(SYNE2):c.2337G>A (p.Met779Ile)
|
|
|
|
NM_182914.3(SYNE2):c.2351T>G (p.Met784Arg)
|
|
|
|
NM_182914.3(SYNE2):c.2354C>T (p.Ala785Val)
|
rs2153485003
|
|
|
NM_182914.3(SYNE2):c.2360G>C (p.Ser787Thr)
|
|
|
|
NM_182914.3(SYNE2):c.237+20C>A
|
|
|
|
NM_182914.3(SYNE2):c.237+6A>T
|
|
|
|
NM_182914.3(SYNE2):c.2386C>G (p.Gln796Glu)
|
|
|
|
NM_182914.3(SYNE2):c.238C>T (p.Pro80Ser)
|
rs1595771772
|
|
|
NM_182914.3(SYNE2):c.2390A>G (p.Asn797Ser)
|
|
|
|
NM_182914.3(SYNE2):c.2421T>A (p.Val807=)
|
|
|
|
NM_182914.3(SYNE2):c.2426C>T (p.Thr809Ile)
|
|
|
|
NM_182914.3(SYNE2):c.2429C>G (p.Thr810Ser)
|
|
|
|
NM_182914.3(SYNE2):c.2431G>A (p.Gly811Arg)
|
|
|
|
NM_182914.3(SYNE2):c.2441C>T (p.Ala814Val)
|
|
|
|
NM_182914.3(SYNE2):c.2448T>A (p.Ile816=)
|
rs1594712638
|
|
|
NM_182914.3(SYNE2):c.2472+11A>G
|
|
|
|
NM_182914.3(SYNE2):c.2472+18C>G
|
|
|
|
NM_182914.3(SYNE2):c.2472+2TC[2]
|
rs768588312
|
|
|
NM_182914.3(SYNE2):c.2472+3C>A
|
|
|
|
NM_182914.3(SYNE2):c.2472+5C>G
|
rs537534571
|
|
|
NM_182914.3(SYNE2):c.2472+8T>C
|
rs757397771
|
|
|
NM_182914.3(SYNE2):c.2472G>T (p.Gln824His)
|
rs760909392
|
|
|
NM_182914.3(SYNE2):c.2475C>A (p.Ile825=)
|
|
|
|
NM_182914.3(SYNE2):c.2489T>G (p.Leu830Arg)
|
rs868572266
|
|
|
NM_182914.3(SYNE2):c.2492T>C (p.Ile831Thr)
|
|
|
|
NM_182914.3(SYNE2):c.2496A>G (p.Ala832=)
|
|
|
|
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly)
|
rs200503488
|
|
|
NM_182914.3(SYNE2):c.2498C>T (p.Ala833Val)
|
rs200503488
|
|
|
NM_182914.3(SYNE2):c.2499G>T (p.Ala833=)
|
rs761478156
|
|
|
NM_182914.3(SYNE2):c.2500T>C (p.Leu834=)
|
|
|
|
NM_182914.3(SYNE2):c.2525C>A (p.Pro842Gln)
|
rs1230958792
|
|
|
NM_182914.3(SYNE2):c.2527G>C (p.Asp843His)
|
|
|
|
NM_182914.3(SYNE2):c.2563A>G (p.Lys855Glu)
|
|
|
|
NM_182914.3(SYNE2):c.2569C>T (p.Leu857Phe)
|
|
|
|
NM_182914.3(SYNE2):c.256A>G (p.Asn86Asp)
|
|
|
|
NM_182914.3(SYNE2):c.2591C>T (p.Ala864Val)
|
|
|
|
NM_182914.3(SYNE2):c.2593del (p.Gln865fs)
|
rs2153485914
|
|
|
NM_182914.3(SYNE2):c.2595G>A (p.Gln865=)
|
|
|
|
NM_182914.3(SYNE2):c.2596C>A (p.Gln866Lys)
|
|
|
|
NM_182914.3(SYNE2):c.2598G>A (p.Gln866=)
|
rs2153485917
|
|
|
NM_182914.3(SYNE2):c.2622C>T (p.Pro874=)
|
|
|
|
NM_182914.3(SYNE2):c.2644A>G (p.Lys882Glu)
|
|
|
|
NM_182914.3(SYNE2):c.2647-2A>G
|
|
|
|
NM_182914.3(SYNE2):c.2647-3dup
|
rs397726340
|
|
|
NM_182914.3(SYNE2):c.2647-4_2647-3dup
|
rs397726340
|
|
|
NM_182914.3(SYNE2):c.2647-7T>G
|
|
|
|
NM_182914.3(SYNE2):c.2650G>A (p.Ala884Thr)
|
|
|
|
NM_182914.3(SYNE2):c.2652A>G (p.Ala884=)
|
|
|
|
NM_182914.3(SYNE2):c.2664T>C (p.Ser888=)
|
rs2153490426
|
|
|
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp)
|
rs370800852
|
|
|
NM_182914.3(SYNE2):c.2672A>G (p.Lys891Arg)
|
|
|
|
NM_182914.3(SYNE2):c.2722A>C (p.Thr908Pro)
|
|
|
|
NM_182914.3(SYNE2):c.2724T>C (p.Thr908=)
|
|
|
|
NM_182914.3(SYNE2):c.2727G>T (p.Glu909Asp)
|
rs2096689999
|
|
|
NM_182914.3(SYNE2):c.2738T>C (p.Met913Thr)
|
rs770869083
|
|
|
NM_182914.3(SYNE2):c.273A>C (p.Arg91Ser)
|
|
|
|
NM_182914.3(SYNE2):c.2746G>A (p.Glu916Lys)
|
rs2096690257
|
|
|
NM_182914.3(SYNE2):c.2779G>C (p.Glu927Gln)
|
|
|
|
NM_182914.3(SYNE2):c.2782-5T>C
|
|
|
|
NM_182914.3(SYNE2):c.2782-5dup
|
rs750650701
|
|
|
NM_182914.3(SYNE2):c.2806T>C (p.Tyr936His)
|
|
|
|
NM_182914.3(SYNE2):c.2810T>G (p.Val937Gly)
|
|
|
|
NM_182914.3(SYNE2):c.2815C>A (p.Gln939Lys)
|
|
|
|
NM_182914.3(SYNE2):c.2831T>C (p.Ile944Thr)
|
|
|
|
NM_182914.3(SYNE2):c.2841A>G (p.Gly947=)
|
|
|
|
NM_182914.3(SYNE2):c.2844G>C (p.Lys948Asn)
|
|
|
|
NM_182914.3(SYNE2):c.2855A>G (p.Asn952Ser)
|
|
|
|
NM_182914.3(SYNE2):c.2857A>G (p.Ile953Val)
|
rs2096703120
|
|
|
NM_182914.3(SYNE2):c.2874G>A (p.Lys958=)
|
|
|
|
NM_182914.3(SYNE2):c.287A>G (p.His96Arg)
|
rs2095922493
|
|
|
NM_182914.3(SYNE2):c.288T>C (p.His96=)
|
|
|
|
NM_182914.3(SYNE2):c.2899A>G (p.Ile967Val)
|
|
|
|
NM_182914.3(SYNE2):c.28G>C (p.Glu10Gln)
|
rs781375790
|
|
|
NM_182914.3(SYNE2):c.2908G>A (p.Gly970Arg)
|
rs767335788
|
|
|
NM_182914.3(SYNE2):c.290C>G (p.Ala97Gly)
|
|
|
|
NM_182914.3(SYNE2):c.2940+8A>G
|
rs1016739113
|
|
|
NM_182914.3(SYNE2):c.2941-20T>C
|
|
|
|
NM_182914.3(SYNE2):c.2942C>T (p.Ala981Val)
|
rs1466945953
|
|
|
NM_182914.3(SYNE2):c.2950T>G (p.Ser984Ala)
|
|
|
|
NM_182914.3(SYNE2):c.2960G>A (p.Gly987Asp)
|
rs769535616
|
|
|
NM_182914.3(SYNE2):c.2970C>A (p.Tyr990Ter)
|
rs1323140900
|
|
|
NM_182914.3(SYNE2):c.2971C>G (p.Gln991Glu)
|
|
|
|
NM_182914.3(SYNE2):c.2972A>C (p.Gln991Pro)
|
|
|
|
NM_182914.3(SYNE2):c.297A>G (p.Thr99=)
|
|
|
|
NM_182914.3(SYNE2):c.2982C>T (p.His994=)
|
rs1278857159
|
|
|
NM_182914.3(SYNE2):c.3004C>T (p.Leu1002=)
|
|
|
|
NM_182914.3(SYNE2):c.301C>T (p.Leu101=)
|
|
|
|
NM_182914.3(SYNE2):c.3039A>G (p.Gln1013=)
|
rs765896679
|
|
|
NM_182914.3(SYNE2):c.3042A>T (p.Glu1014Asp)
|
rs750783509
|
|
|
NM_182914.3(SYNE2):c.3076A>T (p.Ile1026Leu)
|
rs1395621217
|
|
|
NM_182914.3(SYNE2):c.3097G>A (p.Ala1033Thr)
|
|
|
|
NM_182914.3(SYNE2):c.3113T>C (p.Met1038Thr)
|
rs2096719569
|
|
|
NM_182914.3(SYNE2):c.311G>A (p.Arg104Gln)
|
|
|
|
NM_182914.3(SYNE2):c.3134G>A (p.Gly1045Glu)
|
|
|
|
NM_182914.3(SYNE2):c.3140C>T (p.Thr1047Met)
|
|
|
|
NM_182914.3(SYNE2):c.315+20A>C
|
rs2153417624
|
|
|
NM_182914.3(SYNE2):c.3150C>T (p.Asn1050=)
|
|
|
|
NM_182914.3(SYNE2):c.3152+15A>G
|
|
|
|
NM_182914.3(SYNE2):c.3152+5G>T
|
|
|
|
NM_182914.3(SYNE2):c.3152+9T>C
|
rs2096719929
|
|
|
NM_182914.3(SYNE2):c.3152A>G (p.Glu1051Gly)
|
|
|
|
NM_182914.3(SYNE2):c.3153-16T>C
|
|
|
|
NM_182914.3(SYNE2):c.3153-19A>G
|
|
|
|
NM_182914.3(SYNE2):c.3153-20C>T
|
|
|
|
NM_182914.3(SYNE2):c.3153-9C>G
|
rs1295049768
|
|
|
NM_182914.3(SYNE2):c.3154G>A (p.Gly1052Arg)
|
|
|
|
NM_182914.3(SYNE2):c.316-11T>C
|
rs749478491
|
|
|
NM_182914.3(SYNE2):c.316-2A>G
|
rs2153417734
|
|
|
NM_182914.3(SYNE2):c.3160A>T (p.Ile1054Phe)
|
|
|
|
NM_182914.3(SYNE2):c.3176A>G (p.Asn1059Ser)
|
|
|
|
NM_182914.3(SYNE2):c.3177T>G (p.Asn1059Lys)
|
rs1594758891
|
|
|
NM_182914.3(SYNE2):c.3190C>T (p.Pro1064Ser)
|
|
|
|
NM_182914.3(SYNE2):c.3197_3207del (p.Ser1066fs)
|
|
|
|
NM_182914.3(SYNE2):c.3229C>T (p.Pro1077Ser)
|
|
|
|
NM_182914.3(SYNE2):c.3234A>C (p.Ser1078=)
|
|
|
|
NM_182914.3(SYNE2):c.3244-4T>G
|
|
|
|
NM_182914.3(SYNE2):c.3244-7C>T
|
rs766912711
|
|
|
NM_182914.3(SYNE2):c.3247A>G (p.Met1083Val)
|
rs1335909602
|
|
|
NM_182914.3(SYNE2):c.3275C>T (p.Ala1092Val)
|
rs1555421275
|
|
|
NM_182914.3(SYNE2):c.3279A>G (p.Ser1093=)
|
|
|
|
NM_182914.3(SYNE2):c.3287G>A (p.Arg1096Lys)
|
rs2096728053
|
|
|
NM_182914.3(SYNE2):c.3294G>A (p.Leu1098=)
|
rs766305428
|
|
|
NM_182914.3(SYNE2):c.330_333del (p.Ile111fs)
|
|
|
|
NM_182914.3(SYNE2):c.3319G>T (p.Asp1107Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.332T>G (p.Ile111Ser)
|
|
|
|
NM_182914.3(SYNE2):c.3334A>G (p.Ile1112Val)
|
|
|
|
NM_182914.3(SYNE2):c.3338A>G (p.Asn1113Ser)
|
|
|
|
NM_182914.3(SYNE2):c.3353+18del
|
|
|
|
NM_182914.3(SYNE2):c.3354-13T>G
|
|
|
|
NM_182914.3(SYNE2):c.3354-3C>T
|
|
|
|
NM_182914.3(SYNE2):c.3361A>G (p.Thr1121Ala)
|
|
|
|
NM_182914.3(SYNE2):c.3362C>A (p.Thr1121Lys)
|
rs2153500223
|
|
|
NM_182914.3(SYNE2):c.3381A>G (p.Glu1127=)
|
rs2153500255
|
|
|
NM_182914.3(SYNE2):c.3395A>T (p.Asn1132Ile)
|
rs1175611635
|
|
|
NM_182914.3(SYNE2):c.339T>A (p.Val113=)
|
|
|
|
NM_182914.3(SYNE2):c.3407G>T (p.Arg1136Met)
|
|
|
|
NM_182914.3(SYNE2):c.3416C>T (p.Ser1139Phe)
|
|
|
|
NM_182914.3(SYNE2):c.3425C>G (p.Ser1142Cys)
|
|
|
|
NM_182914.3(SYNE2):c.3445A>C (p.Ser1149Arg)
|
rs2096734093
|
|
|
NM_182914.3(SYNE2):c.3452G>A (p.Cys1151Tyr)
|
rs1555421819
|
|
|
NM_182914.3(SYNE2):c.3456G>T (p.Leu1152=)
|
|
|
|
NM_182914.3(SYNE2):c.3471A>T (p.Thr1157=)
|
|
|
|
NM_182914.3(SYNE2):c.3472G>C (p.Asp1158His)
|
rs750773485
|
|
|
NM_182914.3(SYNE2):c.3480+9del
|
rs754100176
|
|
|
NM_182914.3(SYNE2):c.3481-17T>A
|
|
|
|
NM_182914.3(SYNE2):c.3486A>G (p.Ile1162Met)
|
|
|
|
NM_182914.3(SYNE2):c.3506G>T (p.Arg1169Leu)
|
rs200437377
|
|
|
NM_182914.3(SYNE2):c.3507C>T (p.Arg1169=)
|
|
|
|
NM_182914.3(SYNE2):c.3541del (p.Glu1181fs)
|
rs2096746644
|
|
|
NM_182914.3(SYNE2):c.3550G>C (p.Val1184Leu)
|
|
|
|
NM_182914.3(SYNE2):c.3558C>T (p.Asp1186=)
|
|
|
|
NM_182914.3(SYNE2):c.3577A>G (p.Ile1193Val)
|
|
|
|
NM_182914.3(SYNE2):c.358A>C (p.Asn120His)
|
rs1595773305
|
|
|
NM_182914.3(SYNE2):c.3591C>T (p.Asp1197=)
|
|
|
|
NM_182914.3(SYNE2):c.359A>G (p.Asn120Ser)
|
|
|
|
NM_182914.3(SYNE2):c.3611G>A (p.Arg1204Lys)
|
|
|
|
NM_182914.3(SYNE2):c.361C>A (p.Pro121Thr)
|
|
|
|
NM_182914.3(SYNE2):c.3631A>G (p.Asn1211Asp)
|
rs2096747451
|
|
|
NM_182914.3(SYNE2):c.3641T>C (p.Met1214Thr)
|
|
|
|
NM_182914.3(SYNE2):c.3643G>A (p.Glu1215Lys)
|
|
|
|
NM_182914.3(SYNE2):c.3645A>G (p.Glu1215=)
|
|
|
|
NM_182914.3(SYNE2):c.3688G>A (p.Ala1230Thr)
|
rs1294862758
|
|
|
NM_182914.3(SYNE2):c.3693A>G (p.Ser1231=)
|
|
|
|
NM_182914.3(SYNE2):c.3696TCT[1] (p.Leu1234del)
|
rs777263472
|
|
|
NM_182914.3(SYNE2):c.3700C>T (p.Leu1234Phe)
|
|
|
|
NM_182914.3(SYNE2):c.3715C>G (p.Leu1239Val)
|
rs886050581
|
|
|
NM_182914.3(SYNE2):c.3720T>C (p.Pro1240=)
|
|
|
|
NM_182914.3(SYNE2):c.3730A>G (p.Met1244Val)
|
rs886042631
|
|
|
NM_182914.3(SYNE2):c.3739C>A (p.Gln1247Lys)
|
rs1594783691
|
|
|
NM_182914.3(SYNE2):c.3741G>A (p.Gln1247=)
|
|
|
|
NM_182914.3(SYNE2):c.3766C>T (p.Arg1256Cys)
|
|
|
|
NM_182914.3(SYNE2):c.3786+7A>G
|
rs778686599
|
|
|
NM_182914.3(SYNE2):c.3788A>C (p.Asn1263Thr)
|
rs1021504217
|
|
|
NM_182914.3(SYNE2):c.3794A>G (p.Gln1265Arg)
|
rs759543992
|
|
|
NM_182914.3(SYNE2):c.3797A>G (p.Asp1266Gly)
|
rs752582359
|
|
|
NM_182914.3(SYNE2):c.3809A>G (p.Lys1270Arg)
|
|
|
|
NM_182914.3(SYNE2):c.3812A>G (p.Gln1271Arg)
|
rs2096765172
|
|
|
NM_182914.3(SYNE2):c.381A>G (p.Leu127=)
|
rs2153417791
|
|
|
NM_182914.3(SYNE2):c.3824G>A (p.Cys1275Tyr)
|
rs1309435421
|
|
|
NM_182914.3(SYNE2):c.3846C>T (p.Gly1282=)
|
|
|
|
NM_182914.3(SYNE2):c.3853G>T (p.Val1285Leu)
|
|
|
|
NM_182914.3(SYNE2):c.3855A>T (p.Val1285=)
|
rs371327530
|
|
|
NM_182914.3(SYNE2):c.3862G>T (p.Glu1288Ter)
|
|
|
|
NM_182914.3(SYNE2):c.3868C>G (p.His1290Asp)
|
|
|
|
NM_182914.3(SYNE2):c.3870C>G (p.His1290Gln)
|
|
|
|
NM_182914.3(SYNE2):c.3871C>G (p.Pro1291Ala)
|
|
|
|
NM_182914.3(SYNE2):c.3875T>C (p.Phe1292Ser)
|
rs2096765769
|
|
|
NM_182914.3(SYNE2):c.3880C>A (p.Leu1294Ile)
|
|
|
|
NM_182914.3(SYNE2):c.3882A>C (p.Leu1294=)
|
|
|
|
NM_182914.3(SYNE2):c.3882A>G (p.Leu1294=)
|
|
|
|
NM_182914.3(SYNE2):c.3883C>A (p.His1295Asn)
|
rs749089209
|
|
|
NM_182914.3(SYNE2):c.3885C>G (p.His1295Gln)
|
rs570341792
|
|
|
NM_182914.3(SYNE2):c.3903A>G (p.Ile1301Met)
|
|
|
|
NM_182914.3(SYNE2):c.3912C>T (p.Tyr1304=)
|
|
|
|
NM_182914.3(SYNE2):c.3913_3914insT (p.Lys1305fs)
|
|
|
|
NM_182914.3(SYNE2):c.3916A>G (p.Thr1306Ala)
|
rs2096766111
|
|
|
NM_182914.3(SYNE2):c.3950_3961del (p.Arg1317_Asp1320del)
|
|
|
|
NM_182914.3(SYNE2):c.3953G>C (p.Ser1318Thr)
|
rs2153505738
|
|
|
NM_182914.3(SYNE2):c.3964C>T (p.Leu1322Phe)
|
|
|
|
NM_182914.3(SYNE2):c.39G>T (p.Gln13His)
|
rs1187262903
|
|
|
NM_182914.3(SYNE2):c.4023C>T (p.Pro1341=)
|
|
|
|
NM_182914.3(SYNE2):c.4027A>G (p.Thr1343Ala)
|
rs2096767067
|
|
|
NM_182914.3(SYNE2):c.402C>T (p.His134=)
|
rs2153417811
|
|
|
NM_182914.3(SYNE2):c.4032C>T (p.Asp1344=)
|
|
|
|
NM_182914.3(SYNE2):c.4046A>G (p.Asp1349Gly)
|
|
|
|
NM_182914.3(SYNE2):c.4067A>G (p.Asn1356Ser)
|
|
|
|
NM_182914.3(SYNE2):c.4070C>A (p.Thr1357Lys)
|
rs769845003
|
|
|
NM_182914.3(SYNE2):c.407A>T (p.His136Leu)
|
|
|
|
NM_182914.3(SYNE2):c.408+15G>A
|
|
|
|
NM_182914.3(SYNE2):c.409-14T>A
|
|
|
|
NM_182914.3(SYNE2):c.409-16A>T
|
rs1358509460
|
|
|
NM_182914.3(SYNE2):c.4092G>C (p.Glu1364Asp)
|
|
|
|
NM_182914.3(SYNE2):c.4102C>G (p.His1368Asp)
|
rs1166480761
|
|
|
NM_182914.3(SYNE2):c.4110G>A (p.Met1370Ile)
|
|
|
|
NM_182914.3(SYNE2):c.4114G>T (p.Asp1372Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.4119G>A (p.Lys1373=)
|
|
|
|
NM_182914.3(SYNE2):c.4136A>G (p.Lys1379Arg)
|
rs2153505913
|
|
|
NM_182914.3(SYNE2):c.4148T>A (p.Met1383Lys)
|
|
|
|
NM_182914.3(SYNE2):c.4152C>T (p.Leu1384=)
|
|
|
|
NM_182914.3(SYNE2):c.4178G>T (p.Arg1393Leu)
|
|
|
|
NM_182914.3(SYNE2):c.4190C>A (p.Thr1397Asn)
|
rs760136466
|
|
|
NM_182914.3(SYNE2):c.4194C>G (p.Ser1398=)
|
|
|
|
NM_182914.3(SYNE2):c.4196G>A (p.Cys1399Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.419T>G (p.Leu140Arg)
|
|
|
|
NM_182914.3(SYNE2):c.4219dup (p.Ser1407fs)
|
rs1567023881
|
|
|
NM_182914.3(SYNE2):c.4228T>G (p.Leu1410Val)
|
|
|
|
NM_182914.3(SYNE2):c.4235A>G (p.Glu1412Gly)
|
rs1421966833
|
|
|
NM_182914.3(SYNE2):c.4242T>A (p.His1414Gln)
|
|
|
|
NM_182914.3(SYNE2):c.4248T>C (p.Tyr1416=)
|
|
|
|
NM_182914.3(SYNE2):c.4249G>A (p.Gly1417Arg)
|
|
|
|
NM_182914.3(SYNE2):c.424C>G (p.Gln142Glu)
|
rs2096122537
|
|
|
NM_182914.3(SYNE2):c.4260G>A (p.Glu1420=)
|
rs2153506009
|
|
|
NM_182914.3(SYNE2):c.4266C>T (p.Phe1422=)
|
|
|
|
NM_182914.3(SYNE2):c.4278C>G (p.Asn1426Lys)
|
|
|
|
NM_182914.3(SYNE2):c.4333G>T (p.Asp1445Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.4336G>A (p.Val1446Met)
|
|
|
|
NM_182914.3(SYNE2):c.4338G>C (p.Val1446=)
|
|
|
|
NM_182914.3(SYNE2):c.4351A>G (p.Ser1451Gly)
|
rs535438406
|
|
|
NM_182914.3(SYNE2):c.4367A>G (p.Lys1456Arg)
|
rs373113826
|
|
|
NM_182914.3(SYNE2):c.4370A>G (p.Asp1457Gly)
|
|
|
|
NM_182914.3(SYNE2):c.4375A>C (p.Thr1459Pro)
|
rs1482814444
|
|
|
NM_182914.3(SYNE2):c.4383A>G (p.Pro1461=)
|
|
|
|
NM_182914.3(SYNE2):c.438C>G (p.Cys146Trp)
|
rs765943821
|
|
|
NM_182914.3(SYNE2):c.4396C>T (p.Arg1466Trp)
|
|
|
|
NM_182914.3(SYNE2):c.4397+13C>T
|
|
|
|
NM_182914.3(SYNE2):c.4398-11T>A
|
rs2096801796
|
|
|
NM_182914.3(SYNE2):c.4398-8T>A
|
|
|
|
NM_182914.3(SYNE2):c.4406C>G (p.Ser1469Ter)
|
rs1191099437
|
|
|
NM_182914.3(SYNE2):c.440A>G (p.Asn147Ser)
|
|
|
|
NM_182914.3(SYNE2):c.4418T>G (p.Leu1473Arg)
|
rs772693998
|
|
|
NM_182914.3(SYNE2):c.4432G>C (p.Asp1478His)
|
rs1423801252
|
|
|
NM_182914.3(SYNE2):c.4440T>C (p.Tyr1480=)
|
|
|
|
NM_182914.3(SYNE2):c.4457A>G (p.His1486Arg)
|
|
|
|
NM_182914.3(SYNE2):c.446A>G (p.Asn149Ser)
|
|
|
|
NM_182914.3(SYNE2):c.4471G>A (p.Ala1491Thr)
|
|
|
|
NM_182914.3(SYNE2):c.4474A>G (p.Asn1492Asp)
|
rs759496296
|
|
|
NM_182914.3(SYNE2):c.4512C>T (p.Thr1504=)
|
rs935097653
|
|
|
NM_182914.3(SYNE2):c.4572C>T (p.Thr1524=)
|
|
|
|
NM_182914.3(SYNE2):c.4576T>C (p.Cys1526Arg)
|
rs2153513257
|
|
|
NM_182914.3(SYNE2):c.4577+15dup
|
|
|
|
NM_182914.3(SYNE2):c.4577+6del
|
|
|
|
NM_182914.3(SYNE2):c.4578-8A>G
|
rs1315906572
|
|
|
NM_182914.3(SYNE2):c.4585C>T (p.Gln1529Ter)
|
rs2096831020
|
|
|
NM_182914.3(SYNE2):c.4597G>T (p.Val1533Phe)
|
|
|
|
NM_182914.3(SYNE2):c.4603G>C (p.Glu1535Gln)
|
|
|
|
NM_182914.3(SYNE2):c.4607T>C (p.Leu1536Pro)
|
|
|
|
NM_182914.3(SYNE2):c.4617A>G (p.Gln1539=)
|
rs2153516799
|
|
|
NM_182914.3(SYNE2):c.4640T>C (p.Leu1547Ser)
|
rs1594836938
|
|
|
NM_182914.3(SYNE2):c.4646C>G (p.Thr1549Ser)
|
rs1223928872
|
|
|
NM_182914.3(SYNE2):c.4647T>A (p.Thr1549=)
|
|
|
|
NM_182914.3(SYNE2):c.4651A>G (p.Ile1551Val)
|
|
|
|
NM_182914.3(SYNE2):c.4672A>G (p.Ile1558Val)
|
rs781515176
|
|
|
NM_182914.3(SYNE2):c.4697G>A (p.Gly1566Glu)
|
rs906789317
|
|
|
NM_182914.3(SYNE2):c.4699A>G (p.Lys1567Glu)
|
|
|
|
NM_182914.3(SYNE2):c.4720A>G (p.Ile1574Val)
|
|
|
|
NM_182914.3(SYNE2):c.4726G>A (p.Glu1576Lys)
|
|
|
|
NM_182914.3(SYNE2):c.4728+14C>T
|
|
|
|
NM_182914.3(SYNE2):c.4728+16A>C
|
|
|
|
NM_182914.3(SYNE2):c.4728+16A>G
|
|
|
|
NM_182914.3(SYNE2):c.4728+9A>G
|
rs2096831894
|
|
|
NM_182914.3(SYNE2):c.4729-15A>G
|
|
|
|
NM_182914.3(SYNE2):c.4729-15A>T
|
|
|
|
NM_182914.3(SYNE2):c.474G>C (p.Val158=)
|
|
|
|
NM_182914.3(SYNE2):c.4752T>C (p.Phe1584=)
|
rs377521714
|
|
|
NM_182914.3(SYNE2):c.475G>T (p.Val159Phe)
|
rs1323596481
|
|
|
NM_182914.3(SYNE2):c.4768G>T (p.Val1590Phe)
|
rs1018808319
|
|
|
NM_182914.3(SYNE2):c.4769T>C (p.Val1590Ala)
|
rs1345072464
|
|
|
NM_182914.3(SYNE2):c.476T>C (p.Val159Ala)
|
|
|
|
NM_182914.3(SYNE2):c.4787A>C (p.Gln1596Pro)
|
rs2096893453
|
|
|
NM_182914.3(SYNE2):c.478G>A (p.Asp160Asn)
|
rs1566887934
|
|
|
NM_182914.3(SYNE2):c.4791C>T (p.Val1597=)
|
|
|
|
NM_182914.3(SYNE2):c.4799A>C (p.Asn1600Thr)
|
rs2096893538
|
|
|
NM_182914.3(SYNE2):c.4803A>T (p.Leu1601=)
|
|
|
|
NM_182914.3(SYNE2):c.4806A>G (p.Gln1602=)
|
|
|
|
NM_182914.3(SYNE2):c.4810T>C (p.Tyr1604His)
|
|
|
|
NM_182914.3(SYNE2):c.4819A>G (p.Lys1607Glu)
|
|
|
|
NM_182914.3(SYNE2):c.4826A>C (p.Lys1609Thr)
|
|
|
|
NM_182914.3(SYNE2):c.4839G>A (p.Glu1613=)
|
rs751067571
|
|
|
NM_182914.3(SYNE2):c.4844C>A (p.Pro1615His)
|
|
|
|
NM_182914.3(SYNE2):c.4861A>C (p.Asn1621His)
|
rs746284520
|
|
|
NM_182914.3(SYNE2):c.4864ATT[1] (p.Ile1623del)
|
rs1430734342
|
|
|
NM_182914.3(SYNE2):c.4868T>C (p.Ile1623Thr)
|
|
|
|
NM_182914.3(SYNE2):c.4888-7A>G
|
rs2096903178
|
|
|
NM_182914.3(SYNE2):c.489T>C (p.Pro163=)
|
rs2153430559
|
|
|
NM_182914.3(SYNE2):c.4905A>C (p.Glu1635Asp)
|
|
|
|
NM_182914.3(SYNE2):c.4909T>C (p.Tyr1637His)
|
|
|
|
NM_182914.3(SYNE2):c.4924G>A (p.Gly1642Ser)
|
rs1555431607
|
|
|
NM_182914.3(SYNE2):c.4927C>T (p.Arg1643Ter)
|
|
|
|
NM_182914.3(SYNE2):c.4933C>G (p.Leu1645Val)
|
rs1555431632
|
|
|
NM_182914.3(SYNE2):c.4936G>C (p.Ala1646Pro)
|
|
|
|
NM_182914.3(SYNE2):c.4941G>A (p.Leu1647=)
|
|
|
|
NM_182914.3(SYNE2):c.4959C>A (p.Asn1653Lys)
|
rs2096903791
|
|
|
NM_182914.3(SYNE2):c.4964A>C (p.Lys1655Thr)
|
rs1594893225
|
|
|
NM_182914.3(SYNE2):c.4967A>C (p.Asn1656Thr)
|
|
|
|
NM_182914.3(SYNE2):c.4967A>G (p.Asn1656Ser)
|
|
|
|
NM_182914.3(SYNE2):c.4971C>A (p.Val1657=)
|
rs2153528215
|
|
|
NM_182914.3(SYNE2):c.4992G>A (p.Lys1664=)
|
rs367993417
|
|
|
NM_182914.3(SYNE2):c.5010A>G (p.Glu1670=)
|
rs2153528258
|
|
|
NM_182914.3(SYNE2):c.5013A>G (p.Leu1671=)
|
|
|
|
NM_182914.3(SYNE2):c.5023A>G (p.Thr1675Ala)
|
|
|
|
NM_182914.3(SYNE2):c.5040A>G (p.Glu1680=)
|
|
|
|
NM_182914.3(SYNE2):c.5060A>G (p.Gln1687Arg)
|
rs1448142743
|
|
|
NM_182914.3(SYNE2):c.5066A>G (p.His1689Arg)
|
|
|
|
NM_182914.3(SYNE2):c.5068G>A (p.Glu1690Lys)
|
rs2096924669
|
|
|
NM_182914.3(SYNE2):c.5069A>G (p.Glu1690Gly)
|
|
|
|
NM_182914.3(SYNE2):c.5090C>T (p.Ser1697Phe)
|
|
|
|
NM_182914.3(SYNE2):c.5107A>G (p.Ile1703Val)
|
|
|
|
NM_182914.3(SYNE2):c.5131G>A (p.Glu1711Lys)
|
|
|
|
NM_182914.3(SYNE2):c.5132A>G (p.Glu1711Gly)
|
|
|
|
NM_182914.3(SYNE2):c.5151+17_5151+18insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTTTATTTA
|
|
|
|
NM_182914.3(SYNE2):c.5151+1G>T
|
rs2153531508
|
|
|
NM_182914.3(SYNE2):c.515G>T (p.Cys172Phe)
|
rs2096123588
|
|
|
NM_182914.3(SYNE2):c.5162C>T (p.Ser1721Phe)
|
|
|
|
NM_182914.3(SYNE2):c.5208A>C (p.Gly1736=)
|
|
|
|
NM_182914.3(SYNE2):c.5221C>T (p.His1741Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.5222A>G (p.His1741Arg)
|
rs1221262801
|
|
|
NM_182914.3(SYNE2):c.5226A>G (p.Ala1742=)
|
|
|
|
NM_182914.3(SYNE2):c.5234G>A (p.Gly1745Asp)
|
|
|
|
NM_182914.3(SYNE2):c.5238C>T (p.Ser1746=)
|
|
|
|
NM_182914.3(SYNE2):c.5240C>T (p.Thr1747Ile)
|
|
|
|
NM_182914.3(SYNE2):c.5250A>G (p.Leu1750=)
|
|
|
|
NM_182914.3(SYNE2):c.5276C>G (p.Thr1759Ser)
|
|
|
|
NM_182914.3(SYNE2):c.5297C>T (p.Ser1766Phe)
|
|
|
|
NM_182914.3(SYNE2):c.5298C>T (p.Ser1766=)
|
rs1216620814
|
|
|
NM_182914.3(SYNE2):c.5301C>T (p.Leu1767=)
|
|
|
|
NM_182914.3(SYNE2):c.5312T>C (p.Leu1771Pro)
|
|
|
|
NM_182914.3(SYNE2):c.5316T>G (p.Ser1772=)
|
|
|
|
NM_182914.3(SYNE2):c.5352+6A>G
|
rs572125775
|
|
|
NM_182914.3(SYNE2):c.5352+9G>A
|
|
|
|
NM_182914.3(SYNE2):c.5359C>A (p.Gln1787Lys)
|
rs2096938300
|
|
|
NM_182914.3(SYNE2):c.5409A>G (p.Gln1803=)
|
|
|
|
NM_182914.3(SYNE2):c.5422A>G (p.Thr1808Ala)
|
|
|
|
NM_182914.3(SYNE2):c.5431C>T (p.Leu1811Phe)
|
|
|
|
NM_182914.3(SYNE2):c.5438A>G (p.Glu1813Gly)
|
|
|
|
NM_182914.3(SYNE2):c.544del (p.Ser182fs)
|
rs2153430619
|
|
|
NM_182914.3(SYNE2):c.5478T>C (p.Asn1826=)
|
|
|
|
NM_182914.3(SYNE2):c.5488A>C (p.Ser1830Arg)
|
|
|
|
NM_182914.3(SYNE2):c.5490T>A (p.Ser1830Arg)
|
|
|
|
NM_182914.3(SYNE2):c.5499A>G (p.Gln1833=)
|
|
|
|
NM_182914.3(SYNE2):c.54C>T (p.Ile18=)
|
|
|
|
NM_182914.3(SYNE2):c.5500G>C (p.Asp1834His)
|
rs760548610
|
|
|
NM_182914.3(SYNE2):c.5503C>A (p.His1835Asn)
|
|
|
|
NM_182914.3(SYNE2):c.550A>G (p.Arg184Gly)
|
|
|
|
NM_182914.3(SYNE2):c.5511T>G (p.Ser1837=)
|
|
|
|
NM_182914.3(SYNE2):c.5524+10A>G
|
|
|
|
NM_182914.3(SYNE2):c.5524+12A>G
|
rs2153533933
|
|
|
NM_182914.3(SYNE2):c.5524+15T>G
|
|
|
|
NM_182914.3(SYNE2):c.5524+17T>C
|
|
|
|
NM_182914.3(SYNE2):c.5525-11del
|
rs769496095
|
|
|
NM_182914.3(SYNE2):c.5525-11dup
|
|
|
|
NM_182914.3(SYNE2):c.5525-12T>C
|
|
|
|
NM_182914.3(SYNE2):c.5525-7C>T
|
|
|
|
NM_182914.3(SYNE2):c.5535G>A (p.Lys1845=)
|
rs753226338
|
|
|
NM_182914.3(SYNE2):c.5545G>T (p.Asp1849Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.5573T>A (p.Leu1858His)
|
|
|
|
NM_182914.3(SYNE2):c.5589_5592dup (p.Ser1865fs)
|
|
|
|
NM_182914.3(SYNE2):c.55G>A (p.Asp19Asn)
|
|
|
|
NM_182914.3(SYNE2):c.5606_5608del (p.Lys1869del)
|
|
|
|
NM_182914.3(SYNE2):c.5606dup (p.Ser1870fs)
|
|
|
|
NM_182914.3(SYNE2):c.5637+11T>C
|
|
|
|
NM_182914.3(SYNE2):c.5637+15T>C
|
|
|
|
NM_182914.3(SYNE2):c.5637+8AT[2]
|
|
|
|
NM_182914.3(SYNE2):c.5646G>T (p.Leu1882Phe)
|
rs747913558
|
|
|
NM_182914.3(SYNE2):c.5650C>T (p.Leu1884Phe)
|
|
|
|
NM_182914.3(SYNE2):c.566T>C (p.Leu189Ser)
|
|
|
|
NM_182914.3(SYNE2):c.5688C>A (p.Ser1896Arg)
|
|
|
|
NM_182914.3(SYNE2):c.5688C>T (p.Ser1896=)
|
|
|
|
NM_182914.3(SYNE2):c.5696A>G (p.Lys1899Arg)
|
rs886050582
|
|
|
NM_182914.3(SYNE2):c.5726A>G (p.His1909Arg)
|
rs750862490
|
|
|
NM_182914.3(SYNE2):c.5728G>A (p.Val1910Met)
|
rs2096960883
|
|
|
NM_182914.3(SYNE2):c.5729T>C (p.Val1910Ala)
|
rs758536054
|
|
|
NM_182914.3(SYNE2):c.5737C>T (p.Leu1913Phe)
|
rs780436538
|
|
|
NM_182914.3(SYNE2):c.5746T>G (p.Trp1916Gly)
|
|
|
|
NM_182914.3(SYNE2):c.5752G>A (p.Val1918Met)
|
rs199898588
|
|
|
NM_182914.3(SYNE2):c.5766C>T (p.Phe1922=)
|
|
|
|
NM_182914.3(SYNE2):c.5767G>A (p.Glu1923Lys)
|
|
|
|
NM_182914.3(SYNE2):c.5768A>T (p.Glu1923Val)
|
|
|
|
NM_182914.3(SYNE2):c.5776A>G (p.Lys1926Glu)
|
|
|
|
NM_182914.3(SYNE2):c.5789T>C (p.Ile1930Thr)
|
|
|
|
NM_182914.3(SYNE2):c.5792G>A (p.Cys1931Tyr)
|
rs2153537144
|
|
|
NM_182914.3(SYNE2):c.5795A>G (p.Gln1932Arg)
|
|
|
|
NM_182914.3(SYNE2):c.5796G>T (p.Gln1932His)
|
rs1567083049
|
|
|
NM_182914.3(SYNE2):c.5840+10A>G
|
rs751855197
|
|
|
NM_182914.3(SYNE2):c.5840+16G>A
|
rs1359053735
|
|
|
NM_182914.3(SYNE2):c.5840+16G>C
|
|
|
|
NM_182914.3(SYNE2):c.5840G>C (p.Arg1947Thr)
|
|
|
|
NM_182914.3(SYNE2):c.5841-17G>C
|
rs376253496
|
|
|
NM_182914.3(SYNE2):c.5841-18T>C
|
|
|
|
NM_182914.3(SYNE2):c.5841-8T>C
|
|
|
|
NM_182914.3(SYNE2):c.5864T>C (p.Leu1955Pro)
|
|
|
|
NM_182914.3(SYNE2):c.5894A>C (p.Lys1965Thr)
|
|
|
|
NM_182914.3(SYNE2):c.5895A>G (p.Lys1965=)
|
rs2096966269
|
|
|
NM_182914.3(SYNE2):c.5896T>C (p.Trp1966Arg)
|
|
|
|
NM_182914.3(SYNE2):c.58G>A (p.Asp20Asn)
|
|
|
|
NM_182914.3(SYNE2):c.58G>T (p.Asp20Tyr)
|
rs770930910
|
|
|
NM_182914.3(SYNE2):c.590+15A>G
|
|
|
|
NM_182914.3(SYNE2):c.590+16T>A
|
|
|
|
NM_182914.3(SYNE2):c.590+6T>C
|
rs1011848200
|
|
|
NM_182914.3(SYNE2):c.5906T>G (p.Met1969Arg)
|
rs4902264
|
|
|
NM_182914.3(SYNE2):c.5906_5907inv (p.Met1969Thr)
|
|
|
|
NM_182914.3(SYNE2):c.590C>T (p.Thr197Ile)
|
|
|
|
NM_182914.3(SYNE2):c.591-4A>T
|
|
|
|
NM_182914.3(SYNE2):c.5912A>G (p.Glu1971Gly)
|
|
|
|
NM_182914.3(SYNE2):c.5918G>C (p.Gly1973Ala)
|
|
|
|
NM_182914.3(SYNE2):c.5943A>G (p.Gln1981=)
|
rs2153537897
|
|
|
NM_182914.3(SYNE2):c.5961-17G>A
|
|
|
|
NM_182914.3(SYNE2):c.5967G>A (p.Gln1989=)
|
rs1367701552
|
|
|
NM_182914.3(SYNE2):c.6011G>C (p.Gly2004Ala)
|
|
|
|
NM_182914.3(SYNE2):c.6012G>T (p.Gly2004=)
|
rs2096968280
|
|
|
NM_182914.3(SYNE2):c.6019GAA[3] (p.Glu2010del)
|
rs908642792
|
|
|
NM_182914.3(SYNE2):c.6021A>G (p.Glu2007=)
|
rs554969084
|
|
|
NM_182914.3(SYNE2):c.6060T>C (p.Asp2020=)
|
|
|
|
NM_182914.3(SYNE2):c.6063A>G (p.Arg2021=)
|
rs2096968604
|
|
|
NM_182914.3(SYNE2):c.6078G>A (p.Leu2026=)
|
|
|
|
NM_182914.3(SYNE2):c.6081A>T (p.Arg2027Ser)
|
|
|
|
NM_182914.3(SYNE2):c.6097G>A (p.Glu2033Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6124G>A (p.Glu2042Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6152A>G (p.His2051Arg)
|
|
|
|
NM_182914.3(SYNE2):c.6153T>G (p.His2051Gln)
|
|
|
|
NM_182914.3(SYNE2):c.6154G>C (p.Asp2052His)
|
|
|
|
NM_182914.3(SYNE2):c.6165T>C (p.His2055=)
|
|
|
|
NM_182914.3(SYNE2):c.6173A>G (p.Lys2058Arg)
|
|
|
|
NM_182914.3(SYNE2):c.6185A>G (p.Glu2062Gly)
|
|
|
|
NM_182914.3(SYNE2):c.6201G>C (p.Leu2067Phe)
|
rs2096969652
|
|
|
NM_182914.3(SYNE2):c.6210C>T (p.Ser2070=)
|
|
|
|
NM_182914.3(SYNE2):c.6211G>A (p.Glu2071Lys)
|
rs551783338
|
|
|
NM_182914.3(SYNE2):c.6225A>G (p.Pro2075=)
|
rs773319758
|
|
|
NM_182914.3(SYNE2):c.6247A>T (p.Ile2083Phe)
|
rs200739844
|
|
|
NM_182914.3(SYNE2):c.6250A>C (p.Lys2084Gln)
|
|
|
|
NM_182914.3(SYNE2):c.6252+3A>G
|
|
|
|
NM_182914.3(SYNE2):c.6297C>T (p.Thr2099=)
|
rs2153539753
|
|
|
NM_182914.3(SYNE2):c.6300C>T (p.Ile2100=)
|
|
|
|
NM_182914.3(SYNE2):c.6302T>C (p.Met2101Thr)
|
rs1473588731
|
|
|
NM_182914.3(SYNE2):c.6307C>G (p.Gln2103Glu)
|
rs2096981266
|
|
|
NM_182914.3(SYNE2):c.6313G>A (p.Glu2105Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6314A>G (p.Glu2105Gly)
|
|
|
|
NM_182914.3(SYNE2):c.6324G>C (p.Glu2108Asp)
|
|
|
|
NM_182914.3(SYNE2):c.6325G>A (p.Ala2109Thr)
|
rs1342257701
|
|
|
NM_182914.3(SYNE2):c.6327C>T (p.Ala2109=)
|
rs778614480
|
|
|
NM_182914.3(SYNE2):c.6328C>T (p.Pro2110Ser)
|
|
|
|
NM_182914.3(SYNE2):c.6330G>A (p.Pro2110=)
|
rs779101206
|
|
|
NM_182914.3(SYNE2):c.633A>G (p.Arg211=)
|
|
|
|
NM_182914.3(SYNE2):c.6383A>T (p.His2128Leu)
|
|
|
|
NM_182914.3(SYNE2):c.6384T>A (p.His2128Gln)
|
rs752995209
|
|
|
NM_182914.3(SYNE2):c.6405-15T>C
|
|
|
|
NM_182914.3(SYNE2):c.6405-9G>C
|
|
|
|
NM_182914.3(SYNE2):c.6412G>A (p.Glu2138Lys)
|
rs2153540879
|
|
|
NM_182914.3(SYNE2):c.641T>A (p.Met214Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6424C>T (p.Leu2142=)
|
|
|
|
NM_182914.3(SYNE2):c.644C>T (p.Ala215Val)
|
|
|
|
NM_182914.3(SYNE2):c.6466T>G (p.Leu2156Val)
|
rs2096990417
|
|
|
NM_182914.3(SYNE2):c.6476T>C (p.Ile2159Thr)
|
|
|
|
NM_182914.3(SYNE2):c.6485A>G (p.Lys2162Arg)
|
rs2096990635
|
|
|
NM_182914.3(SYNE2):c.6516A>G (p.Gln2172=)
|
|
|
|
NM_182914.3(SYNE2):c.652G>A (p.Ala218Thr)
|
|
|
|
NM_182914.3(SYNE2):c.6553T>C (p.Tyr2185His)
|
|
|
|
NM_182914.3(SYNE2):c.6557A>C (p.Lys2186Thr)
|
|
|
|
NM_182914.3(SYNE2):c.6569A>G (p.Lys2190Arg)
|
|
|
|
NM_182914.3(SYNE2):c.6579A>T (p.Gln2193His)
|
rs373963217
|
|
|
NM_182914.3(SYNE2):c.6599A>G (p.Lys2200Arg)
|
rs551801857
|
|
|
NM_182914.3(SYNE2):c.6601G>A (p.Glu2201Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6604T>A (p.Leu2202Ile)
|
rs571868188
|
|
|
NM_182914.3(SYNE2):c.6620A>G (p.Asn2207Ser)
|
rs2153541057
|
|
|
NM_182914.3(SYNE2):c.6621C>G (p.Asn2207Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6639T>G (p.Thr2213=)
|
|
|
|
NM_182914.3(SYNE2):c.6654C>T (p.Phe2218=)
|
rs2153541094
|
|
|
NM_182914.3(SYNE2):c.6658G>A (p.Glu2220Lys)
|
|
|
|
NM_182914.3(SYNE2):c.6674A>C (p.Glu2225Ala)
|
|
|
|
NM_182914.3(SYNE2):c.6676A>G (p.Ile2226Val)
|
rs2153541111
|
|
|
NM_182914.3(SYNE2):c.6691G>A (p.Glu2231Lys)
|
|
|
|
NM_182914.3(SYNE2):c.66T>C (p.His22=)
|
|
|
|
NM_182914.3(SYNE2):c.6708A>C (p.Gln2236His)
|
|
|
|
NM_182914.3(SYNE2):c.670C>T (p.Arg224Ter)
|
|
|
|
NM_182914.3(SYNE2):c.6714+18A>G
|
|
|
|
NM_182914.3(SYNE2):c.6714G>A (p.Gln2238=)
|
|
|
|
NM_182914.3(SYNE2):c.6715-13G>A
|
|
|
|
NM_182914.3(SYNE2):c.6715-13G>T
|
|
|
|
NM_182914.3(SYNE2):c.671G>A (p.Arg224Gln)
|
rs764128650
|
|
|
NM_182914.3(SYNE2):c.6728A>C (p.Asn2243Thr)
|
|
|
|
NM_182914.3(SYNE2):c.672A>G (p.Arg224=)
|
|
|
|
NM_182914.3(SYNE2):c.6732G>A (p.Leu2244=)
|
rs1442241383
|
|
|
NM_182914.3(SYNE2):c.6735C>A (p.Asp2245Glu)
|
|
|
|
NM_182914.3(SYNE2):c.6741C>T (p.His2247=)
|
|
|
|
NM_182914.3(SYNE2):c.6752A>T (p.His2251Leu)
|
rs2153543846
|
|
|
NM_182914.3(SYNE2):c.6766G>A (p.Val2256Ile)
|
|
|
|
NM_182914.3(SYNE2):c.6817G>C (p.Val2273Leu)
|
rs1274502678
|
|
|
NM_182914.3(SYNE2):c.6829G>C (p.Asp2277His)
|
|
|
|
NM_182914.3(SYNE2):c.6830A>T (p.Asp2277Val)
|
|
|
|
NM_182914.3(SYNE2):c.6836C>T (p.Pro2279Leu)
|
rs2097019470
|
|
|
NM_182914.3(SYNE2):c.6879+17A>G
|
|
|
|
NM_182914.3(SYNE2):c.6879+20C>T
|
|
|
|
NM_182914.3(SYNE2):c.6879+5T>C
|
|
|
|
NM_182914.3(SYNE2):c.6879+9C>T
|
|
|
|
NM_182914.3(SYNE2):c.6880-10C>T
|
rs2097030118
|
|
|
NM_182914.3(SYNE2):c.6880-4G>T
|
rs776756586
|
|
|
NM_182914.3(SYNE2):c.688A>G (p.Met230Val)
|
|
|
|
NM_182914.3(SYNE2):c.6907G>A (p.Asp2303Asn)
|
rs2097030466
|
|
|
NM_182914.3(SYNE2):c.6908A>G (p.Asp2303Gly)
|
|
|
|
NM_182914.3(SYNE2):c.690G>C (p.Met230Ile)
|
rs2096220312
|
|
|
NM_182914.3(SYNE2):c.6916T>C (p.Leu2306=)
|
|
|
|
NM_182914.3(SYNE2):c.6945C>A (p.Ser2315=)
|
|
|
|
NM_182914.3(SYNE2):c.697G>A (p.Val233Met)
|
rs2153436709
|
|
|
NM_182914.3(SYNE2):c.6989A>G (p.Asp2330Gly)
|
|
|
|
NM_182914.3(SYNE2):c.6991G>T (p.Asp2331Tyr)
|
rs2153545498
|
|
|
NM_182914.3(SYNE2):c.6992A>G (p.Asp2331Gly)
|
|
|
|
NM_182914.3(SYNE2):c.6A>G (p.Ala2=)
|
|
|
|
NM_182914.3(SYNE2):c.7010G>A (p.Cys2337Tyr)
|
rs762996751
|
|
|
NM_182914.3(SYNE2):c.7014A>G (p.Lys2338=)
|
|
|
|
NM_182914.3(SYNE2):c.7023T>C (p.Asp2341=)
|
rs2153545532
|
|
|
NM_182914.3(SYNE2):c.7024T>C (p.Leu2342=)
|
|
|
|
NM_182914.3(SYNE2):c.7034G>A (p.Arg2345Lys)
|
|
|
|
NM_182914.3(SYNE2):c.7059G>A (p.Met2353Ile)
|
|
|
|
NM_182914.3(SYNE2):c.7066T>C (p.Cys2356Arg)
|
|
|
|
NM_182914.3(SYNE2):c.7074C>T (p.Asn2358=)
|
|
|
|
NM_182914.3(SYNE2):c.7074_7075inv (p.Ser2359Gly)
|
|
|
|
NM_182914.3(SYNE2):c.7112G>T (p.Gly2371Val)
|
|
|
|
NM_182914.3(SYNE2):c.7147A>G (p.Thr2383Ala)
|
|
|
|
NM_182914.3(SYNE2):c.7156G>A (p.Val2386Met)
|
|
|
|
NM_182914.3(SYNE2):c.7166C>T (p.Ser2389Phe)
|
|
|
|
NM_182914.3(SYNE2):c.7185A>T (p.Ala2395=)
|
|
|
|
NM_182914.3(SYNE2):c.718G>A (p.Asp240Asn)
|
rs1226057811
|
|
|
NM_182914.3(SYNE2):c.7194G>A (p.Lys2398=)
|
|
|
|
NM_182914.3(SYNE2):c.7214T>A (p.Ile2405Lys)
|
|
|
|
NM_182914.3(SYNE2):c.7221+5G>C
|
|
|
|
NM_182914.3(SYNE2):c.7221+9T>C
|
|
|
|
NM_182914.3(SYNE2):c.7221G>C (p.Lys2407Asn)
|
|
|
|
NM_182914.3(SYNE2):c.7254A>C (p.Gln2418His)
|
rs984046422
|
|
|
NM_182914.3(SYNE2):c.7256T>C (p.Leu2419Pro)
|
rs2097198733
|
|
|
NM_182914.3(SYNE2):c.7257T>G (p.Leu2419=)
|
|
|
|
NM_182914.3(SYNE2):c.7268C>A (p.Ala2423Asp)
|
|
|
|
NM_182914.3(SYNE2):c.7299G>A (p.Glu2433=)
|
|
|
|
NM_182914.3(SYNE2):c.7318C>A (p.Gln2440Lys)
|
|
|
|
NM_182914.3(SYNE2):c.7377+11A>G
|
|
|
|
NM_182914.3(SYNE2):c.7378-17G>T
|
|
|
|
NM_182914.3(SYNE2):c.7378-19C>G
|
|
|
|
NM_182914.3(SYNE2):c.739A>G (p.Arg247Gly)
|
|
|
|
NM_182914.3(SYNE2):c.7407A>G (p.Lys2469=)
|
|
|
|
NM_182914.3(SYNE2):c.7417A>C (p.Lys2473Gln)
|
rs2097210469
|
|
|
NM_182914.3(SYNE2):c.7439G>T (p.Cys2480Phe)
|
|
|
|
NM_182914.3(SYNE2):c.744T>G (p.Ile248Met)
|
|
|
|
NM_182914.3(SYNE2):c.7451C>T (p.Thr2484Ile)
|
|
|
|
NM_182914.3(SYNE2):c.7467G>T (p.Leu2489Phe)
|
|
|
|
NM_182914.3(SYNE2):c.7478A>G (p.Asn2493Ser)
|
|
|
|
NM_182914.3(SYNE2):c.7487A>G (p.Tyr2496Cys)
|
rs536644359
|
|
|
NM_182914.3(SYNE2):c.7489T>C (p.Ser2497Pro)
|
rs2153573752
|
|
|
NM_182914.3(SYNE2):c.7491G>A (p.Ser2497=)
|
rs375202949
|
|
|
NM_182914.3(SYNE2):c.7491G>C (p.Ser2497=)
|
|
|
|
NM_182914.3(SYNE2):c.750A>G (p.Glu250=)
|
|
|
|
NM_182914.3(SYNE2):c.7513C>T (p.Leu2505Phe)
|
rs749522550
|
|
|
NM_182914.3(SYNE2):c.7522C>T (p.Leu2508Phe)
|
rs1434034677
|
|
|
NM_182914.3(SYNE2):c.7526T>C (p.Ile2509Thr)
|
|
|
|
NM_182914.3(SYNE2):c.7536G>C (p.Lys2512Asn)
|
rs2097211326
|
|
|
NM_182914.3(SYNE2):c.753A>G (p.Gln251=)
|
|
|
|
NM_182914.3(SYNE2):c.7554A>G (p.Gln2518=)
|
|
|
|
NM_182914.3(SYNE2):c.7579G>A (p.Glu2527Lys)
|
rs1483967595
|
|
|
NM_182914.3(SYNE2):c.7581A>G (p.Glu2527=)
|
|
|
|
NM_182914.3(SYNE2):c.7585C>T (p.Leu2529Phe)
|
|
|
|
NM_182914.3(SYNE2):c.7601C>A (p.Ser2534Tyr)
|
rs749911464
|
|
|
NM_182914.3(SYNE2):c.7617G>A (p.Leu2539=)
|
rs200359168
|
|
|
NM_182914.3(SYNE2):c.7617G>T (p.Leu2539Phe)
|
rs200359168
|
|
|
NM_182914.3(SYNE2):c.7642G>A (p.Val2548Ile)
|
|
|
|
NM_182914.3(SYNE2):c.7643+16T>C
|
|
|
|
NM_182914.3(SYNE2):c.7643+7G>A
|
|
|
|
NM_182914.3(SYNE2):c.7644-10del
|
|
|
|
NM_182914.3(SYNE2):c.766C>T (p.Pro256Ser)
|
rs1195315926
|
|
|
NM_182914.3(SYNE2):c.7681A>T (p.Lys2561Ter)
|
|
|
|
NM_182914.3(SYNE2):c.7695A>T (p.Ala2565=)
|
|
|
|
NM_182914.3(SYNE2):c.7703A>G (p.Glu2568Gly)
|
rs1460075302
|
|
|
NM_182914.3(SYNE2):c.7707A>G (p.Lys2569=)
|
|
|
|
NM_182914.3(SYNE2):c.7716T>C (p.Asp2572=)
|
|
|
|
NM_182914.3(SYNE2):c.7718C>G (p.Ser2573Cys)
|
rs2097227855
|
|
|
NM_182914.3(SYNE2):c.772T>G (p.Leu258Val)
|
rs935787094
|
|
|
NM_182914.3(SYNE2):c.7731G>A (p.Leu2577=)
|
|
|
|
NM_182914.3(SYNE2):c.7748A>G (p.Asn2583Ser)
|
|
|
|
NM_182914.3(SYNE2):c.7760A>G (p.His2587Arg)
|
|
|
|
NM_182914.3(SYNE2):c.7768G>C (p.Asp2590His)
|
rs1555452706
|
|
|
NM_182914.3(SYNE2):c.7811A>T (p.Glu2604Val)
|
|
|
|
NM_182914.3(SYNE2):c.7812A>G (p.Glu2604=)
|
rs2153576146
|
|
|
NM_182914.3(SYNE2):c.7816G>T (p.Gly2606Cys)
|
rs201069405
|
|
|
NM_182914.3(SYNE2):c.7821G>C (p.Trp2607Cys)
|
|
|
|
NM_182914.3(SYNE2):c.7858C>T (p.Gln2620Ter)
|
|
|
|
NM_182914.3(SYNE2):c.7875TGA[1] (p.Asp2626del)
|
|
|
|
NM_182914.3(SYNE2):c.7877A>G (p.Asp2626Gly)
|
rs2097229314
|
|
|
NM_182914.3(SYNE2):c.7878T>C (p.Asp2626=)
|
|
|
|
NM_182914.3(SYNE2):c.788-7C>G
|
rs769211907
|
|
|
NM_182914.3(SYNE2):c.7880A>G (p.Glu2627Gly)
|
rs1440652896
|
|
|
NM_182914.3(SYNE2):c.7889C>A (p.Thr2630Asn)
|
rs1595152259
|
|
|
NM_182914.3(SYNE2):c.7890C>T (p.Thr2630=)
|
|
|
|
NM_182914.3(SYNE2):c.7895T>C (p.Met2632Thr)
|
|
|
|
NM_182914.3(SYNE2):c.79+14G>A
|
|
|
|
NM_182914.3(SYNE2):c.79+19G>A
|
|
|
|
NM_182914.3(SYNE2):c.79+3A>T
|
rs760448281
|
|
|
NM_182914.3(SYNE2):c.79+40G>T
|
rs2275018
|
|
|
NM_182914.3(SYNE2):c.79+5T>A
|
rs776230510
|
|
|
NM_182914.3(SYNE2):c.7914T>G (p.Thr2638=)
|
|
|
|
NM_182914.3(SYNE2):c.7931_7932insTCTACAGTTGCAACA (p.Gln2643_Gln2644insHisLeuGlnLeuGln)
|
rs2097229779
|
|
|
NM_182914.3(SYNE2):c.7943A>G (p.His2648Arg)
|
|
|
|
NM_182914.3(SYNE2):c.7947A>G (p.Leu2649=)
|
|
|
|
NM_182914.3(SYNE2):c.794A>C (p.Asp265Ala)
|
|
|
|
NM_182914.3(SYNE2):c.7974A>C (p.Glu2658Asp)
|
rs2097230167
|
|
|
NM_182914.3(SYNE2):c.7976G>C (p.Arg2659Pro)
|
rs199561218
|
|
|
NM_182914.3(SYNE2):c.7977G>A (p.Arg2659=)
|
|
|
|
NM_182914.3(SYNE2):c.7995del (p.Met2665fs)
|
|
|
|
NM_182914.3(SYNE2):c.80-11T>G
|
|
|
|
NM_182914.3(SYNE2):c.80-14T>A
|
|
|
|
NM_182914.3(SYNE2):c.80-16G>A
|
|
|
|
NM_182914.3(SYNE2):c.80-4A>G
|
rs774804800
|
|
|
NM_182914.3(SYNE2):c.8000C>A (p.Ala2667Asp)
|
|
|
|
NM_182914.3(SYNE2):c.8000C>T (p.Ala2667Val)
|
|
|
|
NM_182914.3(SYNE2):c.8013C>G (p.Asp2671Glu)
|
rs1324986561
|
|
|
NM_182914.3(SYNE2):c.8019G>C (p.Gln2673His)
|
rs2097230524
|
|
|
NM_182914.3(SYNE2):c.8026A>G (p.Lys2676Glu)
|
rs756185609
|
|
|
NM_182914.3(SYNE2):c.802G>A (p.Asp268Asn)
|
rs1555400535
|
|
|
NM_182914.3(SYNE2):c.803A>T (p.Asp268Val)
|
rs1566917767
|
|
|
NM_182914.3(SYNE2):c.8042T>C (p.Val2681Ala)
|
|
|
|
NM_182914.3(SYNE2):c.8067G>C (p.Gln2689His)
|
|
|
|
NM_182914.3(SYNE2):c.8069T>C (p.Met2690Thr)
|
rs560226719
|
|
|
NM_182914.3(SYNE2):c.8080T>A (p.Trp2694Arg)
|
|
|
|
NM_182914.3(SYNE2):c.8097GAA[1] (p.Lys2700del)
|
|
|
|
NM_182914.3(SYNE2):c.8118A>T (p.Ile2706=)
|
|
|
|
NM_182914.3(SYNE2):c.8125T>A (p.Leu2709Met)
|
|
|
|
NM_182914.3(SYNE2):c.8146T>C (p.Leu2716=)
|
rs1353602939
|
|
|
NM_182914.3(SYNE2):c.8167_8172del (p.Ala2723_Glu2724del)
|
|
|
|
NM_182914.3(SYNE2):c.8229C>T (p.Ala2743=)
|
|
|
|
NM_182914.3(SYNE2):c.8232G>T (p.Lys2744Asn)
|
rs886050583
|
|
|
NM_182914.3(SYNE2):c.8257T>C (p.Ser2753Pro)
|
rs1214897374
|
|
|
NM_182914.3(SYNE2):c.8260A>G (p.Ile2754Val)
|
|
|
|
NM_182914.3(SYNE2):c.8263C>T (p.Pro2755Ser)
|
|
|
|
NM_182914.3(SYNE2):c.8264C>G (p.Pro2755Arg)
|
|
|
|
NM_182914.3(SYNE2):c.8272C>T (p.Pro2758Ser)
|
rs771389608
|
|
|
NM_182914.3(SYNE2):c.8282T>C (p.Ile2761Thr)
|
|
|
|
NM_182914.3(SYNE2):c.8306A>G (p.Lys2769Arg)
|
|
|
|
NM_182914.3(SYNE2):c.8308G>A (p.Val2770Met)
|
|
|
|
NM_182914.3(SYNE2):c.8309T>C (p.Val2770Ala)
|
|
|
|
NM_182914.3(SYNE2):c.831T>C (p.Tyr277=)
|
|
|
|
NM_182914.3(SYNE2):c.833T>C (p.Val278Ala)
|
|
|
|
NM_182914.3(SYNE2):c.8345T>C (p.Val2782Ala)
|
rs201852964
|
|
|
NM_182914.3(SYNE2):c.8351C>T (p.Ser2784Leu)
|
rs765459823
|
|
|
NM_182914.3(SYNE2):c.8352G>A (p.Ser2784=)
|
|
|
|
NM_182914.3(SYNE2):c.8362G>A (p.Glu2788Lys)
|
|
|
|
NM_182914.3(SYNE2):c.8364G>A (p.Glu2788=)
|
|
|
|
NM_182914.3(SYNE2):c.8372A>G (p.Asp2791Gly)
|
|
|
|
NM_182914.3(SYNE2):c.8377G>T (p.Val2793Phe)
|
rs747840683
|
|
|
NM_182914.3(SYNE2):c.8403_8404inv (p.Ser2802Gly)
|
|
|
|
NM_182914.3(SYNE2):c.8405G>A (p.Ser2802Asn)
|
|
|
|
NM_182914.3(SYNE2):c.8407G>A (p.Asp2803Asn)
|
|
|
|
NM_182914.3(SYNE2):c.8408A>G (p.Asp2803Gly)
|
|
|
|
NM_182914.3(SYNE2):c.8434C>A (p.Arg2812=)
|
|
|
|
NM_182914.3(SYNE2):c.8434C>T (p.Arg2812Trp)
|
|
|
|
NM_182914.3(SYNE2):c.8435G>A (p.Arg2812Gln)
|
rs553109676
|
|
|
NM_182914.3(SYNE2):c.8442A>G (p.Gln2814=)
|
|
|
|
NM_182914.3(SYNE2):c.844C>T (p.Leu282=)
|
rs1595894315
|
|
|
NM_182914.3(SYNE2):c.8467A>G (p.Thr2823Ala)
|
|
|
|
NM_182914.3(SYNE2):c.8499G>T (p.Leu2833Phe)
|
rs2153576700
|
|
|
NM_182914.3(SYNE2):c.8512A>G (p.Asn2838Asp)
|
rs2153576715
|
|
|
NM_182914.3(SYNE2):c.8513A>G (p.Asn2838Ser)
|
|
|
|
NM_182914.3(SYNE2):c.8516T>G (p.Phe2839Cys)
|
|
|
|
NM_182914.3(SYNE2):c.8528T>A (p.Ile2843Lys)
|
|
|
|
NM_182914.3(SYNE2):c.8531G>A (p.Arg2844Lys)
|
|
|
|
NM_182914.3(SYNE2):c.8532_8535del (p.Arg2844fs)
|
rs2153576735
|
|
|
NM_182914.3(SYNE2):c.8542C>G (p.Leu2848Val)
|
|
|
|
NM_182914.3(SYNE2):c.8582T>C (p.Val2861Ala)
|
|
|
|
NM_182914.3(SYNE2):c.8584G>C (p.Glu2862Gln)
|
|
|
|
NM_182914.3(SYNE2):c.8591C>T (p.Ala2864Val)
|
rs2153576784
|
|
|
NM_182914.3(SYNE2):c.8621A>G (p.His2874Arg)
|
|
|
|
NM_182914.3(SYNE2):c.8626A>C (p.Thr2876Pro)
|
rs1322044514
|
|
|
NM_182914.3(SYNE2):c.8655A>G (p.Gln2885=)
|
|
|
|
NM_182914.3(SYNE2):c.865C>T (p.Pro289Ser)
|
rs1459614876
|
|
|
NM_182914.3(SYNE2):c.8680C>T (p.His2894Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.8698A>C (p.Asn2900His)
|
|
|
|
NM_182914.3(SYNE2):c.8698A>G (p.Asn2900Asp)
|
|
|
|
NM_182914.3(SYNE2):c.8712G>A (p.Glu2904=)
|
|
|
|
NM_182914.3(SYNE2):c.8726A>G (p.Glu2909Gly)
|
|
|
|
NM_182914.3(SYNE2):c.8733A>G (p.Leu2911=)
|
|
|
|
NM_182914.3(SYNE2):c.8748G>T (p.Gln2916His)
|
|
|
|
NM_182914.3(SYNE2):c.8756A>G (p.Asn2919Ser)
|
|
|
|
NM_182914.3(SYNE2):c.8764A>G (p.Ile2922Val)
|
|
|
|
NM_182914.3(SYNE2):c.8765T>C (p.Ile2922Thr)
|
rs2097236290
|
|
|
NM_182914.3(SYNE2):c.8775C>T (p.Asn2925=)
|
rs778905999
|
|
|
NM_182914.3(SYNE2):c.8798A>G (p.Asn2933Ser)
|
|
|
|
NM_182914.3(SYNE2):c.8799T>C (p.Asn2933=)
|
rs2097236513
|
|
|
NM_182914.3(SYNE2):c.8808T>C (p.Asn2936=)
|
|
|
|
NM_182914.3(SYNE2):c.8819A>G (p.His2940Arg)
|
|
|
|
NM_182914.3(SYNE2):c.8820C>T (p.His2940=)
|
rs1177872028
|
|
|
NM_182914.3(SYNE2):c.8825T>C (p.Ile2942Thr)
|
rs2097236781
|
|
|
NM_182914.3(SYNE2):c.8834G>A (p.Cys2945Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.8844C>T (p.Phe2948=)
|
|
|
|
NM_182914.3(SYNE2):c.8862G>A (p.Ala2954=)
|
rs373930498
|
|
|
NM_182914.3(SYNE2):c.886C>A (p.Gln296Lys)
|
|
|
|
NM_182914.3(SYNE2):c.8873A>T (p.Glu2958Val)
|
|
|
|
NM_182914.3(SYNE2):c.888+10C>A
|
|
|
|
NM_182914.3(SYNE2):c.888+13A>G
|
rs2096315740
|
|
|
NM_182914.3(SYNE2):c.888+15G>A
|
|
|
|
NM_182914.3(SYNE2):c.8884A>G (p.Ile2962Val)
|
rs2153576994
|
|
|
NM_182914.3(SYNE2):c.889-9A>G
|
|
|
|
NM_182914.3(SYNE2):c.8900T>C (p.Leu2967Pro)
|
|
|
|
NM_182914.3(SYNE2):c.8902T>C (p.Leu2968=)
|
|
|
|
NM_182914.3(SYNE2):c.8908A>G (p.Asn2970Asp)
|
|
|
|
NM_182914.3(SYNE2):c.8928T>G (p.Gly2976=)
|
rs373828834
|
|
|
NM_182914.3(SYNE2):c.8929del (p.Val2977fs)
|
|
|
|
NM_182914.3(SYNE2):c.8931T>C (p.Val2977=)
|
rs1555453730
|
|
|
NM_182914.3(SYNE2):c.8960G>A (p.Arg2987Lys)
|
|
|
|
NM_182914.3(SYNE2):c.896T>A (p.Val299Glu)
|
|
|
|
NM_182914.3(SYNE2):c.9004A>C (p.Lys3002Gln)
|
|
|
|
NM_182914.3(SYNE2):c.9034T>G (p.Trp3012Gly)
|
rs373784533
|
|
|
NM_182914.3(SYNE2):c.9037G>A (p.Asp3013Asn)
|
|
|
|
NM_182914.3(SYNE2):c.9048A>C (p.Gln3016His)
|
|
|
|
NM_182914.3(SYNE2):c.9065C>T (p.Thr3022Ile)
|
|
|
|
NM_182914.3(SYNE2):c.9081del (p.Glu3028fs)
|
rs1253969126
|
|
|
NM_182914.3(SYNE2):c.9085A>G (p.Lys3029Glu)
|
|
|
|
NM_182914.3(SYNE2):c.9144T>C (p.Tyr3048=)
|
rs1331113396
|
|
|
NM_182914.3(SYNE2):c.9144T>G (p.Tyr3048Ter)
|
rs1331113396
|
|
|
NM_182914.3(SYNE2):c.9153A>G (p.Leu3051=)
|
|
|
|
NM_182914.3(SYNE2):c.9157A>C (p.Ser3053Arg)
|
rs2153577267
|
|
|
NM_182914.3(SYNE2):c.9183A>G (p.Gln3061=)
|
|
|
|
NM_182914.3(SYNE2):c.9189G>C (p.Lys3063Asn)
|
|
|
|
NM_182914.3(SYNE2):c.9207A>G (p.Val3069=)
|
|
|
|
NM_182914.3(SYNE2):c.9213dup (p.Ala3072fs)
|
|
|
|
NM_182914.3(SYNE2):c.921T>G (p.Thr307=)
|
|
|
|
NM_182914.3(SYNE2):c.9231G>C (p.Pro3077=)
|
rs199659722
|
|
|
NM_182914.3(SYNE2):c.9286T>C (p.Cys3096Arg)
|
rs2153577355
|
|
|
NM_182914.3(SYNE2):c.9289T>A (p.Leu3097Ile)
|
|
|
|
NM_182914.3(SYNE2):c.9328A>G (p.Thr3110Ala)
|
|
|
|
NM_182914.3(SYNE2):c.9330C>A (p.Thr3110=)
|
|
|
|
NM_182914.3(SYNE2):c.9331T>C (p.Phe3111Leu)
|
|
|
|
NM_182914.3(SYNE2):c.9345C>G (p.Phe3115Leu)
|
rs768731460
|
|
|
NM_182914.3(SYNE2):c.9377_9378insGAAA (p.Asn3126fs)
|
|
|
|
NM_182914.3(SYNE2):c.9396G>A (p.Lys3132=)
|
rs566182360
|
|
|
NM_182914.3(SYNE2):c.9423A>G (p.Val3141=)
|
|
|
|
NM_182914.3(SYNE2):c.942G>T (p.Gln314His)
|
rs2096356090
|
|
|
NM_182914.3(SYNE2):c.9438A>G (p.Pro3146=)
|
|
|
|
NM_182914.3(SYNE2):c.9442G>A (p.Glu3148Lys)
|
|
|
|
NM_182914.3(SYNE2):c.9443A>T (p.Glu3148Val)
|
|
|
|
NM_182914.3(SYNE2):c.9466G>A (p.Asp3156Asn)
|
|
|
|
NM_182914.3(SYNE2):c.9466G>T (p.Asp3156Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.9478A>C (p.Thr3160Pro)
|
|
|
|
NM_182914.3(SYNE2):c.9508T>C (p.Ser3170Pro)
|
|
|
|
NM_182914.3(SYNE2):c.9509C>A (p.Ser3170Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.9513A>G (p.Gln3171=)
|
|
|
|
NM_182914.3(SYNE2):c.9516A>G (p.Leu3172=)
|
|
|
|
NM_182914.3(SYNE2):c.9519G>A (p.Gln3173=)
|
rs779254549
|
|
|
NM_182914.3(SYNE2):c.9529C>T (p.Leu3177Phe)
|
rs780632657
|
|
|
NM_182914.3(SYNE2):c.9552T>C (p.His3184=)
|
rs2153577571
|
|
|
NM_182914.3(SYNE2):c.9554T>C (p.Ile3185Thr)
|
|
|
|
NM_182914.3(SYNE2):c.9558A>C (p.Gln3186His)
|
rs776801026
|
|
|
NM_182914.3(SYNE2):c.9573T>C (p.Asn3191=)
|
rs2097243006
|
|
|
NM_182914.3(SYNE2):c.9576T>G (p.Cys3192Trp)
|
|
|
|
NM_182914.3(SYNE2):c.9609G>A (p.Met3203Ile)
|
|
|
|
NM_182914.3(SYNE2):c.9610T>G (p.Cys3204Gly)
|
rs531451940
|
|
|
NM_182914.3(SYNE2):c.9633T>C (p.Ala3211=)
|
rs1335670113
|
|
|
NM_182914.3(SYNE2):c.9634A>G (p.Ile3212Val)
|
|
|
|
NM_182914.3(SYNE2):c.9669G>A (p.Ala3223=)
|
|
|
|
NM_182914.3(SYNE2):c.9670A>T (p.Ser3224Cys)
|
rs545062561
|
|
|
NM_182914.3(SYNE2):c.9683C>T (p.Thr3228Ile)
|
|
|
|
NM_182914.3(SYNE2):c.9711G>T (p.Gln3237His)
|
rs1406827932
|
|
|
NM_182914.3(SYNE2):c.9739C>T (p.Arg3247Cys)
|
|
|
|
NM_182914.3(SYNE2):c.9744+17A>G
|
|
|
|
NM_182914.3(SYNE2):c.9744+18T>G
|
|
|
|
NM_182914.3(SYNE2):c.9745-11C>T
|
|
|
|
NM_182914.3(SYNE2):c.9768A>G (p.Glu3256=)
|
rs2153580472
|
|
|
NM_182914.3(SYNE2):c.9777_9778del (p.Arg3260fs)
|
rs2153580475
|
|
|
NM_182914.3(SYNE2):c.9789A>G (p.Glu3263=)
|
rs1202584954
|
|
|
NM_182914.3(SYNE2):c.9812G>A (p.Ser3271Asn)
|
rs756481940
|
|
|
NM_182914.3(SYNE2):c.9816C>T (p.Ile3272=)
|
|
|
|
NM_182914.3(SYNE2):c.9825C>T (p.Leu3275=)
|
|
|
|
NM_182914.3(SYNE2):c.9870A>G (p.Glu3290=)
|
|
|
|
NM_182914.3(SYNE2):c.9873A>G (p.Glu3291=)
|
rs747745836
|
|
|
NM_182914.3(SYNE2):c.9893G>A (p.Arg3298Gln)
|
rs770399154
|
|
|
NM_182914.3(SYNE2):c.990+11T>C
|
|
|
|
NM_182914.3(SYNE2):c.990+14dup
|
rs754502584
|
|
|
NM_182914.3(SYNE2):c.990+18C>T
|
|
|
|
NM_182914.3(SYNE2):c.990_990+4del
|
|
|
|
NM_182914.3(SYNE2):c.991-12T>A
|
|
|
|
NM_182914.3(SYNE2):c.991-16A>T
|
|
|
|
NM_182914.3(SYNE2):c.9925C>T (p.His3309Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.9925_9926inv (p.His3309Cys)
|
|
|
|
NM_182914.3(SYNE2):c.9926A>G (p.His3309Arg)
|
rs8010699
|
|
|
NM_182914.3(SYNE2):c.9926A>T (p.His3309Leu)
|
rs8010699
|
|
|
NM_182914.3(SYNE2):c.9929T>C (p.Ile3310Thr)
|
|
|
|
NM_182914.3(SYNE2):c.9939C>T (p.Leu3313=)
|
|
|
|
NM_182914.3(SYNE2):c.9952G>A (p.Gly3318Arg)
|
|
|
|
NM_182914.3(SYNE2):c.995T>G (p.Leu332Arg)
|
rs2153454245
|
|
|
NM_182914.3(SYNE2):c.9962C>G (p.Ser3321Cys)
|
|
|
|
NM_182914.3(SYNE2):c.9967C>T (p.Pro3323Ser)
|
|
|
|
NM_182914.3(SYNE2):c.9979C>T (p.Leu3327=)
|
|
|
|
NM_182914.3(SYNE2):c.9994A>G (p.Thr3332Ala)
|
rs2153580640
|
|
|
NM_182914.3(SYNE2):c.9999A>T (p.Leu3333Phe)
|
rs2097267152
|
|
|
NM_182961.3(SYNE1):c.23146-7dup
|
rs770820426
|
|
|
NM_182961.4(SYNE1):c.*295T>C
|
rs886061190
|
|
|
NM_182961.4(SYNE1):c.*449T>A
|
rs886061188
|
|
|
NM_182961.4(SYNE1):c.*449T>C
|
rs886061188
|
|
|
NM_182961.4(SYNE1):c.*515T>C
|
rs886061187
|
|
|
NM_182961.4(SYNE1):c.*580del
|
rs886061186
|
|
|
NM_182961.4(SYNE1):c.*666_*667del
|
rs71660056
|
|
|
NM_182961.4(SYNE1):c.*667del
|
rs71660056
|
|
|
NM_182961.4(SYNE1):c.-224+1G>A
|
|
|
|
NM_182961.4(SYNE1):c.-352C>T
|
rs886061220
|
|
|
NM_182961.4(SYNE1):c.-40A>T
|
rs2099690467
|
|
|
NM_182961.4(SYNE1):c.10020A>G (p.Ile3340Met)
|
rs756088149
|
|
|
NM_182961.4(SYNE1):c.10051A>G (p.Thr3351Ala)
|
rs2097039682
|
|
|
NM_182961.4(SYNE1):c.10051A>T (p.Thr3351Ser)
|
rs2097039682
|
|
|
NM_182961.4(SYNE1):c.10053T>C (p.Thr3351=)
|
|
|
|
NM_182961.4(SYNE1):c.10071C>G (p.Pro3357=)
|
|
|
|
NM_182961.4(SYNE1):c.10078C>G (p.Gln3360Glu)
|
|
|
|
NM_182961.4(SYNE1):c.10092G>A (p.Gln3364=)
|
rs2154076978
|
|
|
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val)
|
rs748579024
|
|
|
NM_182961.4(SYNE1):c.10132A>C (p.Ile3378Leu)
|
rs758060339
|
|
|
NM_182961.4(SYNE1):c.10133T>C (p.Ile3378Thr)
|
|
|
|
NM_182961.4(SYNE1):c.10135C>T (p.Arg3379Cys)
|
|
|
|
NM_182961.4(SYNE1):c.10143A>G (p.Lys3381=)
|
|
|
|
NM_182961.4(SYNE1):c.10145+1G>A
|
rs1563391747
|
|
|
NM_182961.4(SYNE1):c.10162C>T (p.Leu3388Phe)
|
|
|
|
NM_182961.4(SYNE1):c.10181A>T (p.Tyr3394Phe)
|
rs754599705
|
|
|
NM_182961.4(SYNE1):c.10182T>C (p.Tyr3394=)
|
rs2154069329
|
|
|
NM_182961.4(SYNE1):c.10190_10191delinsCA (p.Gly3397Ala)
|
rs2154069302
|
|
|
NM_182961.4(SYNE1):c.10195C>A (p.Arg3399=)
|
|
|
|
NM_182961.4(SYNE1):c.1020G>A (p.Val340=)
|
|
|
|
NM_182961.4(SYNE1):c.10212G>T (p.Trp3404Cys)
|
rs1179568983
|
|
|
NM_182961.4(SYNE1):c.10217A>T (p.Asp3406Val)
|
rs546645393
|
|
|
NM_182961.4(SYNE1):c.10221T>C (p.Ser3407=)
|
|
|
|
NM_182961.4(SYNE1):c.10223T>C (p.Met3408Thr)
|
rs1212823311
|
|
|
NM_182961.4(SYNE1):c.10259C>A (p.Ala3420Glu)
|
rs748911036
|
|
|
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=)
|
rs145287138
|
|
|
NM_182961.4(SYNE1):c.10264C>T (p.Leu3422=)
|
|
|
|
NM_182961.4(SYNE1):c.10269G>C (p.Arg3423=)
|
|
|
|
NM_182961.4(SYNE1):c.10277C>T (p.Thr3426Ile)
|
rs2096943501
|
|
|
NM_182961.4(SYNE1):c.10280C>G (p.Thr3427Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10283T>C (p.Met3428Thr)
|
|
|
|
NM_182961.4(SYNE1):c.10287C>T (p.Leu3429=)
|
|
|
|
NM_182961.4(SYNE1):c.10288G>A (p.Gly3430Arg)
|
rs1047722501
|
|
|
NM_182961.4(SYNE1):c.10296C>A (p.Ala3432=)
|
rs2096943229
|
|
|
NM_182961.4(SYNE1):c.102A>G (p.Thr34=)
|
|
|
|
NM_182961.4(SYNE1):c.10300-13A>T
|
|
|
|
NM_182961.4(SYNE1):c.10300-5T>C
|
rs1295479380
|
|
|
NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=)
|
rs886061205
|
|
|
NM_182961.4(SYNE1):c.10313A>T (p.Glu3438Val)
|
|
|
|
NM_182961.4(SYNE1):c.10332C>T (p.Ser3444=)
|
|
|
|
NM_182961.4(SYNE1):c.10335G>A (p.Leu3445=)
|
|
|
|
NM_182961.4(SYNE1):c.10347C>G (p.Ile3449Met)
|
rs201204269
|
|
|
NM_182961.4(SYNE1):c.10347C>T (p.Ile3449=)
|
|
|
|
NM_182961.4(SYNE1):c.1034A>C (p.Gln345Pro)
|
rs200003096
|
|
|
NM_182961.4(SYNE1):c.10356A>G (p.Lys3452=)
|
rs1318434658
|
|
|
NM_182961.4(SYNE1):c.10379A>G (p.Tyr3460Cys)
|
|
|
|
NM_182961.4(SYNE1):c.10383C>T (p.Val3461=)
|
|
|
|
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter)
|
rs2096893099
|
|
|
NM_182961.4(SYNE1):c.10420A>G (p.Arg3474Gly)
|
rs2096893025
|
|
|
NM_182961.4(SYNE1):c.10430A>G (p.Gln3477Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10444-27_10444-20del
|
|
|
|
NM_182961.4(SYNE1):c.10450G>A (p.Val3484Ile)
|
|
|
|
NM_182961.4(SYNE1):c.10469T>C (p.Leu3490Pro)
|
|
|
|
NM_182961.4(SYNE1):c.1047+12A>G
|
|
|
|
NM_182961.4(SYNE1):c.1047+4T>G
|
rs9397106
|
|
|
NM_182961.4(SYNE1):c.1047+7T>C
|
|
|
|
NM_182961.4(SYNE1):c.1048-4_1048-3del
|
rs755509246
|
|
|
NM_182961.4(SYNE1):c.1048-7del
|
rs2154296673
|
|
|
NM_182961.4(SYNE1):c.10486G>A (p.Glu3496Lys)
|
|
|
|
NM_182961.4(SYNE1):c.10488G>A (p.Glu3496=)
|
|
|
|
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
|
|
|
|
NM_182961.4(SYNE1):c.10539A>C (p.Glu3513Asp)
|
|
|
|
NM_182961.4(SYNE1):c.10543C>T (p.Leu3515Phe)
|
rs1447737732
|
|
|
NM_182961.4(SYNE1):c.10545C>T (p.Leu3515=)
|
rs527448479
|
|
|
NM_182961.4(SYNE1):c.10557A>G (p.Ser3519=)
|
|
|
|
NM_182961.4(SYNE1):c.10574C>T (p.Ala3525Val)
|
|
|
|
NM_182961.4(SYNE1):c.1058A>C (p.His353Pro)
|
|
|
|
NM_182961.4(SYNE1):c.10593A>G (p.Thr3531=)
|
|
|
|
NM_182961.4(SYNE1):c.10596G>A (p.Leu3532=)
|
rs765669433
|
|
|
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser)
|
rs776816480
|
|
|
NM_182961.4(SYNE1):c.10608+11C>T
|
|
|
|
NM_182961.4(SYNE1):c.10608+12T>A
|
|
|
|
NM_182961.4(SYNE1):c.10608+1G>C
|
rs1590998146
|
|
|
NM_182961.4(SYNE1):c.10614A>G (p.Leu3538=)
|
|
|
|
NM_182961.4(SYNE1):c.10627G>A (p.Ala3543Thr)
|
|
|
|
NM_182961.4(SYNE1):c.10633G>A (p.Gly3545Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10635G>A (p.Gly3545=)
|
|
|
|
NM_182961.4(SYNE1):c.10649A>G (p.Asn3550Ser)
|
|
|
|
NM_182961.4(SYNE1):c.10662C>T (p.His3554=)
|
|
|
|
NM_182961.4(SYNE1):c.10665C>T (p.Thr3555=)
|
rs2154051145
|
|
|
NM_182961.4(SYNE1):c.1066G>A (p.Val356Ile)
|
rs1156294695
|
|
|
NM_182961.4(SYNE1):c.10699G>A (p.Ala3567Thr)
|
|
|
|
NM_182961.4(SYNE1):c.10700C>T (p.Ala3567Val)
|
rs2154051091
|
|
|
NM_182961.4(SYNE1):c.1072T>C (p.Tyr358His)
|
rs779366372
|
|
|
NM_182961.4(SYNE1):c.10735T>C (p.Trp3579Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10749G>C (p.Gln3583His)
|
|
|
|
NM_182961.4(SYNE1):c.1075G>A (p.Glu359Lys)
|
|
|
|
NM_182961.4(SYNE1):c.10766C>G (p.Thr3589Ser)
|
|
|
|
NM_182961.4(SYNE1):c.10786G>T (p.Val3596Leu)
|
rs143034104
|
|
|
NM_182961.4(SYNE1):c.10788G>T (p.Val3596=)
|
|
|
|
NM_182961.4(SYNE1):c.1078A>G (p.Met360Val)
|
rs2098931426
|
|
|
NM_182961.4(SYNE1):c.10791G>A (p.Val3597=)
|
|
|
|
NM_182961.4(SYNE1):c.10807A>G (p.Met3603Val)
|
|
|
|
NM_182961.4(SYNE1):c.10818G>C (p.Lys3606Asn)
|
|
|
|
NM_182961.4(SYNE1):c.10847C>T (p.Thr3616Ile)
|
|
|
|
NM_182961.4(SYNE1):c.10855G>A (p.Glu3619Lys)
|
rs1214109688
|
|
|
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
|
|
|
|
NM_182961.4(SYNE1):c.10863_10866del (p.Ser3622fs)
|
|
|
|
NM_182961.4(SYNE1):c.1086G>A (p.Arg362=)
|
|
|
|
NM_182961.4(SYNE1):c.10870A>G (p.Arg3624Gly)
|
rs766081119
|
|
|
NM_182961.4(SYNE1):c.10875C>T (p.Thr3625=)
|
|
|
|
NM_182961.4(SYNE1):c.10879C>A (p.Arg3627Ser)
|
rs149712464
|
|
|
NM_182961.4(SYNE1):c.10880G>A (p.Arg3627His)
|
rs755667715
|
|
|
NM_182961.4(SYNE1):c.10927-14C>T
|
rs2154047106
|
|
|
NM_182961.4(SYNE1):c.10927-19C>T
|
rs765562019
|
|
|
NM_182961.4(SYNE1):c.1094T>C (p.Ile365Thr)
|
rs2098931353
|
|
|
NM_182961.4(SYNE1):c.10956A>G (p.Arg3652=)
|
|
|
|
NM_182961.4(SYNE1):c.10969G>C (p.Glu3657Gln)
|
|
|
|
NM_182961.4(SYNE1):c.10981A>C (p.Arg3661=)
|
rs767172575
|
|
|
NM_182961.4(SYNE1):c.10981A>G (p.Arg3661Gly)
|
rs767172575
|
|
|
NM_182961.4(SYNE1):c.11007C>A (p.Ser3669Arg)
|
|
|
|
NM_182961.4(SYNE1):c.11010C>A (p.His3670Gln)
|
rs143673038
|
|
|
NM_182961.4(SYNE1):c.11010C>T (p.His3670=)
|
rs143673038
|
|
|
NM_182961.4(SYNE1):c.11011G>A (p.Val3671Met)
|
rs567753957
|
|
|
NM_182961.4(SYNE1):c.11016C>T (p.Asn3672=)
|
|
|
|
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)
|
rs148028681
|
|
|
NM_182961.4(SYNE1):c.11059C>A (p.Gln3687Lys)
|
|
|
|
NM_182961.4(SYNE1):c.11067G>T (p.Leu3689=)
|
rs2154046463
|
|
|
NM_182961.4(SYNE1):c.11073C>T (p.Leu3691=)
|
|
|
|
NM_182961.4(SYNE1):c.11076A>C (p.Gln3692His)
|
|
|
|
NM_182961.4(SYNE1):c.11082+14del
|
rs2154046352
|
|
|
NM_182961.4(SYNE1):c.11082+8G>A
|
|
|
|
NM_182961.4(SYNE1):c.11083-19T>G
|
|
|
|
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
|
|
|
|
NM_182961.4(SYNE1):c.11091A>C (p.Ile3697=)
|
|
|
|
NM_182961.4(SYNE1):c.11115G>C (p.Gln3705His)
|
rs2154045109
|
|
|
NM_182961.4(SYNE1):c.11166C>T (p.Gly3722=)
|
|
|
|
NM_182961.4(SYNE1):c.11172T>C (p.Thr3724=)
|
|
|
|
NM_182961.4(SYNE1):c.1119C>T (p.His373=)
|
rs886061217
|
|
|
NM_182961.4(SYNE1):c.11208C>A (p.Asp3736Glu)
|
|
|
|
NM_182961.4(SYNE1):c.11248T>C (p.Leu3750=)
|
|
|
|
NM_182961.4(SYNE1):c.11253+6C>A
|
rs2096773869
|
|
|
NM_182961.4(SYNE1):c.11253+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.11254-31T>G
|
rs6932325
|
|
|
NM_182961.4(SYNE1):c.11284A>C (p.Ser3762Arg)
|
rs953580081
|
|
|
NM_182961.4(SYNE1):c.11316G>A (p.Glu3772=)
|
|
|
|
NM_182961.4(SYNE1):c.11331C>T (p.Tyr3777=)
|
|
|
|
NM_182961.4(SYNE1):c.11342G>A (p.Gly3781Asp)
|
|
|
|
NM_182961.4(SYNE1):c.11344G>A (p.Glu3782Lys)
|
|
|
|
NM_182961.4(SYNE1):c.1135T>C (p.Ser379Pro)
|
|
|
|
NM_182961.4(SYNE1):c.11377C>A (p.His3793Asn)
|
|
|
|
NM_182961.4(SYNE1):c.11385G>A (p.Glu3795=)
|
|
|
|
NM_182961.4(SYNE1):c.11391G>A (p.Leu3797=)
|
rs2154039780
|
|
|
NM_182961.4(SYNE1):c.11398C>T (p.Leu3800=)
|
|
|
|
NM_182961.4(SYNE1):c.11408C>T (p.Thr3803Ile)
|
rs2096753111
|
|
|
NM_182961.4(SYNE1):c.11414G>A (p.Arg3805Gln)
|
|
|
|
NM_182961.4(SYNE1):c.11416A>G (p.Lys3806Glu)
|
rs1207624769
|
|
|
NM_182961.4(SYNE1):c.11420A>G (p.Glu3807Gly)
|
rs2096752876
|
|
|
NM_182961.4(SYNE1):c.11425A>G (p.Met3809Val)
|
|
|
|
NM_182961.4(SYNE1):c.11439A>G (p.Lys3813=)
|
|
|
|
NM_182961.4(SYNE1):c.11463C>A (p.Phe3821Leu)
|
rs2154039505
|
|
|
NM_182961.4(SYNE1):c.11464T>A (p.Ser3822Thr)
|
|
|
|
NM_182961.4(SYNE1):c.11475C>T (p.Cys3825=)
|
rs146919170
|
|
|
NM_182961.4(SYNE1):c.11486C>T (p.Thr3829Ile)
|
rs770523249
|
|
|
NM_182961.4(SYNE1):c.11494A>T (p.Ile3832Leu)
|
|
|
|
NM_182961.4(SYNE1):c.11538A>G (p.Lys3846=)
|
|
|
|
NM_182961.4(SYNE1):c.11560G>C (p.Ala3854Pro)
|
rs776601282
|
|
|
NM_182961.4(SYNE1):c.11569T>C (p.Ser3857Pro)
|
|
|
|
NM_182961.4(SYNE1):c.11581-15dup
|
rs5880967
|
|
|
NM_182961.4(SYNE1):c.11581-16_11581-15dup
|
rs5880967
|
|
|
NM_182961.4(SYNE1):c.11581-20T>G
|
|
|
|
NM_182961.4(SYNE1):c.11616A>G (p.Ser3872=)
|
|
|
|
NM_182961.4(SYNE1):c.11625A>G (p.Ser3875=)
|
rs1057518265
|
|
|
NM_182961.4(SYNE1):c.11652G>C (p.Leu3884Phe)
|
|
|
|
NM_182961.4(SYNE1):c.11656C>A (p.Leu3886Met)
|
rs755039909
|
|
|
NM_182961.4(SYNE1):c.11657T>C (p.Leu3886Pro)
|
|
|
|
NM_182961.4(SYNE1):c.11662C>A (p.Gln3888Lys)
|
rs1590820792
|
|
|
NM_182961.4(SYNE1):c.11664G>A (p.Gln3888=)
|
rs1563267356
|
|
|
NM_182961.4(SYNE1):c.11666A>G (p.Asp3889Gly)
|
|
|
|
NM_182961.4(SYNE1):c.11667C>T (p.Asp3889=)
|
|
|
|
NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp)
|
rs750372071
|
|
|
NM_182961.4(SYNE1):c.11685A>G (p.Lys3895=)
|
rs774133216
|
|
|
NM_182961.4(SYNE1):c.11690A>G (p.Asp3897Gly)
|
rs935958519
|
|
|
NM_182961.4(SYNE1):c.11691T>C (p.Asp3897=)
|
rs794727886
|
|
|
NM_182961.4(SYNE1):c.1171A>G (p.Arg391Gly)
|
|
|
|
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
|
|
|
|
NM_182961.4(SYNE1):c.1172del (p.Arg391fs)
|
|
|
|
NM_182961.4(SYNE1):c.1173A>C (p.Arg391Ser)
|
|
|
|
NM_182961.4(SYNE1):c.1176G>C (p.Val392=)
|
|
|
|
NM_182961.4(SYNE1):c.1178C>T (p.Thr393Ile)
|
|
|
|
NM_182961.4(SYNE1):c.117T>C (p.Ser39=)
|
|
|
|
NM_182961.4(SYNE1):c.1185+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.1186-14T>A
|
rs1388629828
|
|
|
NM_182961.4(SYNE1):c.1186-15C>A
|
|
|
|
NM_182961.4(SYNE1):c.1188C>G (p.Leu396=)
|
rs1252508397
|
|
|
NM_182961.4(SYNE1):c.11902-14T>C
|
rs1192832505
|
|
|
NM_182961.4(SYNE1):c.11902-21_11902-19dup
|
|
|
|
NM_182961.4(SYNE1):c.11902-3C>T
|
|
|
|
NM_182961.4(SYNE1):c.11913A>G (p.Glu3971=)
|
|
|
|
NM_182961.4(SYNE1):c.11920G>T (p.Ala3974Ser)
|
rs2154025706
|
|
|
NM_182961.4(SYNE1):c.11935C>A (p.Arg3979Ser)
|
rs755560676
|
|
|
NM_182961.4(SYNE1):c.11936G>T (p.Arg3979Leu)
|
|
|
|
NM_182961.4(SYNE1):c.11992C>T (p.Leu3998=)
|
|
|
|
NM_182961.4(SYNE1):c.11999C>T (p.Ala4000Val)
|
|
|
|
NM_182961.4(SYNE1):c.12011A>T (p.Gln4004Leu)
|
|
|
|
NM_182961.4(SYNE1):c.12015C>T (p.Asn4005=)
|
rs1370153399
|
|
|
NM_182961.4(SYNE1):c.12018G>T (p.Val4006=)
|
|
|
|
NM_182961.4(SYNE1):c.12035G>T (p.Gly4012Val)
|
rs745342797
|
|
|
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu)
|
rs756840607
|
|
|
NM_182961.4(SYNE1):c.12056C>T (p.Ala4019Val)
|
rs756840607
|
|
|
NM_182961.4(SYNE1):c.12059T>A (p.Ile4020Asn)
|
rs2154025477
|
|
|
NM_182961.4(SYNE1):c.12060C>A (p.Ile4020=)
|
|
|
|
NM_182961.4(SYNE1):c.12060C>G (p.Ile4020Met)
|
rs2096650506
|
|
|
NM_182961.4(SYNE1):c.12066C>G (p.Ser4022Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12068C>G (p.Thr4023Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12071C>T (p.Ala4024Val)
|
rs2154025456
|
|
|
NM_182961.4(SYNE1):c.12079-15A>T
|
|
|
|
NM_182961.4(SYNE1):c.12079-2A>T
|
rs2154019221
|
|
|
NM_182961.4(SYNE1):c.1208T>C (p.Leu403Pro)
|
|
|
|
NM_182961.4(SYNE1):c.12090T>A (p.Ser4030Arg)
|
rs2096590726
|
|
|
NM_182961.4(SYNE1):c.12097C>T (p.His4033Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.12128A>T (p.Asp4043Val)
|
rs761744256
|
|
|
NM_182961.4(SYNE1):c.12136C>A (p.Gln4046Lys)
|
rs1159138676
|
|
|
NM_182961.4(SYNE1):c.12168G>A (p.Gln4056=)
|
|
|
|
NM_182961.4(SYNE1):c.12185G>A (p.Ser4062Asn)
|
|
|
|
NM_182961.4(SYNE1):c.12190C>G (p.Gln4064Glu)
|
|
|
|
NM_182961.4(SYNE1):c.12194C>G (p.Pro4065Arg)
|
|
|
|
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs)
|
rs1564367104
|
|
|
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn)
|
rs1366322267
|
|
|
NM_182961.4(SYNE1):c.12213A>G (p.Glu4071=)
|
|
|
|
NM_182961.4(SYNE1):c.12215C>T (p.Ala4072Val)
|
|
|
|
NM_182961.4(SYNE1):c.12219T>C (p.Ile4073=)
|
rs2154018582
|
|
|
NM_182961.4(SYNE1):c.12225+16A>C
|
|
|
|
NM_182961.4(SYNE1):c.12226-17A>G
|
|
|
|
NM_182961.4(SYNE1):c.12234C>T (p.His4078=)
|
|
|
|
NM_182961.4(SYNE1):c.12256G>A (p.Ala4086Thr)
|
|
|
|
NM_182961.4(SYNE1):c.12267C>T (p.Tyr4089=)
|
|
|
|
NM_182961.4(SYNE1):c.12270A>G (p.Leu4090=)
|
rs1436148487
|
|
|
NM_182961.4(SYNE1):c.12285C>G (p.Ser4095=)
|
|
|
|
NM_182961.4(SYNE1):c.12287T>A (p.Met4096Lys)
|
rs771323185
|
|
|
NM_182961.4(SYNE1):c.12287T>C (p.Met4096Thr)
|
rs771323185
|
|
|
NM_182961.4(SYNE1):c.12291T>G (p.Cys4097Trp)
|
rs1554492224
|
|
|
NM_182961.4(SYNE1):c.12309G>A (p.Ser4103=)
|
|
|
|
NM_182961.4(SYNE1):c.12345G>A (p.Glu4115=)
|
|
|
|
NM_182961.4(SYNE1):c.12349A>G (p.Thr4117Ala)
|
|
|
|
NM_182961.4(SYNE1):c.12351+19A>G
|
|
|
|
NM_182961.4(SYNE1):c.12351+2T>C
|
rs2154000325
|
|
|
NM_182961.4(SYNE1):c.12354T>C (p.Ile4118=)
|
|
|
|
NM_182961.4(SYNE1):c.12354T>G (p.Ile4118Met)
|
rs144274149
|
|
|
NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser)
|
rs386707192
|
|
|
NM_182961.4(SYNE1):c.12368T>C (p.Val4123Ala)
|
|
|
|
NM_182961.4(SYNE1):c.12371A>C (p.Gln4124Pro)
|
rs911413208
|
|
|
NM_182961.4(SYNE1):c.12380A>G (p.Asn4127Ser)
|
|
|
|
NM_182961.4(SYNE1):c.12400G>A (p.Glu4134Lys)
|
rs898572784
|
|
|
NM_182961.4(SYNE1):c.12408G>A (p.Lys4136=)
|
|
|
|
NM_182961.4(SYNE1):c.12444T>C (p.Asp4148=)
|
rs2096403666
|
|
|
NM_182961.4(SYNE1):c.12446C>A (p.Ala4149Asp)
|
|
|
|
NM_182961.4(SYNE1):c.12457C>A (p.Leu4153Met)
|
rs2096403501
|
|
|
NM_182961.4(SYNE1):c.12470A>G (p.Lys4157Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12476G>T (p.Arg4159Met)
|
|
|
|
NM_182961.4(SYNE1):c.12489G>A (p.Leu4163=)
|
|
|
|
NM_182961.4(SYNE1):c.12492G>T (p.Glu4164Asp)
|
rs763067012
|
|
|
NM_182961.4(SYNE1):c.12496A>C (p.Asn4166His)
|
rs147385939
|
|
|
NM_182961.4(SYNE1):c.12514G>T (p.Val4172Phe)
|
|
|
|
NM_182961.4(SYNE1):c.12528+8T>C
|
rs1590375315
|
|
|
NM_182961.4(SYNE1):c.12529-18G>A
|
|
|
|
NM_182961.4(SYNE1):c.12535_12537del (p.Val4179del)
|
rs1356327027
|
|
|
NM_182961.4(SYNE1):c.12546A>G (p.Leu4182=)
|
|
|
|
NM_182961.4(SYNE1):c.1254G>A (p.Leu418=)
|
|
|
|
NM_182961.4(SYNE1):c.1254G>T (p.Leu418=)
|
rs777939640
|
|
|
NM_182961.4(SYNE1):c.12552C>G (p.Ser4184Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12573C>A (p.Thr4191=)
|
rs143851739
|
|
|
NM_182961.4(SYNE1):c.12574A>G (p.Ile4192Val)
|
|
|
|
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs)
|
rs886042380
|
|
|
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)
|
rs149536991
|
|
|
NM_182961.4(SYNE1):c.12585G>T (p.Lys4195Asn)
|
rs149536991
|
|
|
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
|
|
|
|
NM_182961.4(SYNE1):c.12598A>G (p.Thr4200Ala)
|
|
|
|
NM_182961.4(SYNE1):c.1259G>A (p.Arg420Lys)
|
|
|
|
NM_182961.4(SYNE1):c.12606G>A (p.Lys4202=)
|
|
|
|
NM_182961.4(SYNE1):c.12636T>C (p.Asn4212=)
|
|
|
|
NM_182961.4(SYNE1):c.12638A>G (p.His4213Arg)
|
rs1032510868
|
|
|
NM_182961.4(SYNE1):c.1263G>C (p.Ala421=)
|
rs949049150
|
|
|
NM_182961.4(SYNE1):c.12647A>G (p.Asp4216Gly)
|
rs1363382711
|
|
|
NM_182961.4(SYNE1):c.12666C>G (p.Cys4222Trp)
|
rs866991892
|
|
|
NM_182961.4(SYNE1):c.12668G>A (p.Arg4223His)
|
|
|
|
NM_182961.4(SYNE1):c.12668G>T (p.Arg4223Leu)
|
rs140492158
|
|
|
NM_182961.4(SYNE1):c.12676A>C (p.Asn4226His)
|
rs2096319568
|
|
|
NM_182961.4(SYNE1):c.12679A>C (p.Asn4227His)
|
|
|
|
NM_182961.4(SYNE1):c.12684G>A (p.Leu4228=)
|
|
|
|
NM_182961.4(SYNE1):c.12684G>C (p.Leu4228=)
|
rs2153982221
|
|
|
NM_182961.4(SYNE1):c.1269G>A (p.Val423=)
|
|
|
|
NM_182961.4(SYNE1):c.12719G>A (p.Arg4240Lys)
|
|
|
|
NM_182961.4(SYNE1):c.1271C>T (p.Ala424Val)
|
|
|
|
NM_182961.4(SYNE1):c.12734G>A (p.Cys4245Tyr)
|
rs1590300572
|
|
|
NM_182961.4(SYNE1):c.12743T>C (p.Val4248Ala)
|
|
|
|
NM_182961.4(SYNE1):c.12795-14C>A
|
|
|
|
NM_182961.4(SYNE1):c.12795A>G (p.Arg4265=)
|
rs1554474578
|
|
|
NM_182961.4(SYNE1):c.12809G>A (p.Ser4270Asn)
|
|
|
|
NM_182961.4(SYNE1):c.1284A>C (p.Glu428Asp)
|
|
|
|
NM_182961.4(SYNE1):c.12852A>G (p.Ala4284=)
|
|
|
|
NM_182961.4(SYNE1):c.12871G>T (p.Ala4291Ser)
|
|
|
|
NM_182961.4(SYNE1):c.12876T>C (p.Ile4292=)
|
|
|
|
NM_182961.4(SYNE1):c.12887A>T (p.Lys4296Ile)
|
|
|
|
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
|
|
|
|
NM_182961.4(SYNE1):c.12897G>A (p.Lys4299=)
|
|
|
|
NM_182961.4(SYNE1):c.129+3A>G
|
|
|
|
NM_182961.4(SYNE1):c.129+7G>A
|
rs1219452466
|
|
|
NM_182961.4(SYNE1):c.12907A>G (p.Ile4303Val)
|
rs758301679
|
|
|
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=)
|
rs755709525
|
|
|
NM_182961.4(SYNE1):c.12914A>T (p.His4305Leu)
|
|
|
|
NM_182961.4(SYNE1):c.1291G>A (p.Val431Ile)
|
|
|
|
NM_182961.4(SYNE1):c.1291G>T (p.Val431Phe)
|
rs761198236
|
|
|
NM_182961.4(SYNE1):c.12923T>C (p.Leu4308Ser)
|
|
|
|
NM_182961.4(SYNE1):c.12927T>C (p.Asp4309=)
|
|
|
|
NM_182961.4(SYNE1):c.12936G>A (p.Glu4312=)
|
|
|
|
NM_182961.4(SYNE1):c.12941T>C (p.Val4314Ala)
|
rs2153974951
|
|
|
NM_182961.4(SYNE1):c.12948A>G (p.Glu4316=)
|
rs1590242706
|
|
|
NM_182961.4(SYNE1):c.12956G>A (p.Ser4319Asn)
|
rs2153974889
|
|
|
NM_182961.4(SYNE1):c.12971G>A (p.Arg4324His)
|
|
|
|
NM_182961.4(SYNE1):c.12997A>G (p.Lys4333Glu)
|
|
|
|
NM_182961.4(SYNE1):c.12C>T (p.Ser4=)
|
|
|
|
NM_182961.4(SYNE1):c.130-13T>G
|
|
|
|
NM_182961.4(SYNE1):c.13002G>A (p.Arg4334=)
|
rs2096250896
|
|
|
NM_182961.4(SYNE1):c.13011A>T (p.Gln4337His)
|
|
|
|
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
|
|
|
|
NM_182961.4(SYNE1):c.13023C>G (p.Thr4341=)
|
|
|
|
NM_182961.4(SYNE1):c.13050G>C (p.Gln4350His)
|
|
|
|
NM_182961.4(SYNE1):c.13064A>G (p.Glu4355Gly)
|
rs2153974617
|
|
|
NM_182961.4(SYNE1):c.13075T>C (p.Trp4359Arg)
|
|
|
|
NM_182961.4(SYNE1):c.13089A>T (p.Gln4363His)
|
|
|
|
NM_182961.4(SYNE1):c.1309G>A (p.Glu437Lys)
|
rs2154294590
|
|
|
NM_182961.4(SYNE1):c.13102G>T (p.Ala4368Ser)
|
rs201900423
|
|
|
NM_182961.4(SYNE1):c.13120A>G (p.Ser4374Gly)
|
|
|
|
NM_182961.4(SYNE1):c.13136T>C (p.Met4379Thr)
|
|
|
|
NM_182961.4(SYNE1):c.13153A>G (p.Met4385Val)
|
|
|
|
NM_182961.4(SYNE1):c.13172G>C (p.Cys4391Ser)
|
|
|
|
NM_182961.4(SYNE1):c.13187C>T (p.Ala4396Val)
|
|
|
|
NM_182961.4(SYNE1):c.13191G>A (p.Lys4397=)
|
rs2153974179
|
|
|
NM_182961.4(SYNE1):c.13195A>T (p.Met4399Leu)
|
|
|
|
NM_182961.4(SYNE1):c.13197G>T (p.Met4399Ile)
|
|
|
|
NM_182961.4(SYNE1):c.13223C>G (p.Ala4408Gly)
|
rs886061204
|
|
|
NM_182961.4(SYNE1):c.13239A>T (p.Ala4413=)
|
|
|
|
NM_182961.4(SYNE1):c.1323G>A (p.Thr441=)
|
rs748132028
|
|
|
NM_182961.4(SYNE1):c.13240G>T (p.Asp4414Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.13257G>A (p.Glu4419=)
|
rs777483692
|
|
|
NM_182961.4(SYNE1):c.13259G>A (p.Arg4420Gln)
|
rs766831979
|
|
|
NM_182961.4(SYNE1):c.13279C>G (p.Leu4427Val)
|
|
|
|
NM_182961.4(SYNE1):c.13289C>T (p.Ala4430Val)
|
|
|
|
NM_182961.4(SYNE1):c.13307G>A (p.Cys4436Tyr)
|
rs1405025412
|
|
|
NM_182961.4(SYNE1):c.13323G>T (p.Val4441=)
|
rs770562637
|
|
|
NM_182961.4(SYNE1):c.13341C>T (p.Tyr4447=)
|
|
|
|
NM_182961.4(SYNE1):c.13347C>T (p.Asn4449=)
|
|
|
|
NM_182961.4(SYNE1):c.13359C>T (p.Ser4453=)
|
|
|
|
NM_182961.4(SYNE1):c.13372T>A (p.Phe4458Ile)
|
rs2153973664
|
|
|
NM_182961.4(SYNE1):c.13381G>A (p.Ala4461Thr)
|
|
|
|
NM_182961.4(SYNE1):c.1338T>C (p.Leu446=)
|
|
|
|
NM_182961.4(SYNE1):c.13416T>C (p.His4472=)
|
|
|
|
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys)
|
rs554814659
|
|
|
NM_182961.4(SYNE1):c.13418A>G (p.Glu4473Gly)
|
rs1202464044
|
|
|
NM_182961.4(SYNE1):c.13422A>G (p.Arg4474=)
|
rs1590231826
|
|
|
NM_182961.4(SYNE1):c.13436G>T (p.Arg4479Leu)
|
rs768085752
|
|
|
NM_182961.4(SYNE1):c.13443C>T (p.His4481=)
|
|
|
|
NM_182961.4(SYNE1):c.13475A>T (p.Gln4492Leu)
|
|
|
|
NM_182961.4(SYNE1):c.13486T>G (p.Cys4496Gly)
|
rs2153973254
|
|
|
NM_182961.4(SYNE1):c.1351-15T>A
|
rs750754911
|
|
|
NM_182961.4(SYNE1):c.1351-15del
|
|
|
|
NM_182961.4(SYNE1):c.1351-20T>A
|
|
|
|
NM_182961.4(SYNE1):c.1351-6T>C
|
rs1441507558
|
|
|
NM_182961.4(SYNE1):c.13511A>C (p.Lys4504Thr)
|
|
|
|
NM_182961.4(SYNE1):c.13513A>T (p.Thr4505Ser)
|
|
|
|
NM_182961.4(SYNE1):c.13532C>T (p.Thr4511Ile)
|
rs1554471456
|
|
|
NM_182961.4(SYNE1):c.13535G>C (p.Gly4512Ala)
|
rs933108692
|
|
|
NM_182961.4(SYNE1):c.13536A>T (p.Gly4512=)
|
|
|
|
NM_182961.4(SYNE1):c.13537C>G (p.Leu4513Val)
|
|
|
|
NM_182961.4(SYNE1):c.13543G>C (p.Ala4515Pro)
|
|
|
|
NM_182961.4(SYNE1):c.13545C>A (p.Ala4515=)
|
|
|
|
NM_182961.4(SYNE1):c.13545C>T (p.Ala4515=)
|
rs2153973054
|
|
|
NM_182961.4(SYNE1):c.13554C>G (p.Arg4518=)
|
rs115535983
|
|
|
NM_182961.4(SYNE1):c.13562T>C (p.Met4521Thr)
|
|
|
|
NM_182961.4(SYNE1):c.13587G>C (p.Lys4529Asn)
|
rs1265607198
|
|
|
NM_182961.4(SYNE1):c.13598T>C (p.Leu4533Pro)
|
rs2096237841
|
|
|
NM_182961.4(SYNE1):c.1360C>G (p.Gln454Glu)
|
rs542819749
|
|
|
NM_182961.4(SYNE1):c.13620G>C (p.Gln4540His)
|
rs755192690
|
|
|
NM_182961.4(SYNE1):c.13626C>T (p.Val4542=)
|
rs766469216
|
|
|
NM_182961.4(SYNE1):c.13628A>T (p.Tyr4543Phe)
|
rs138770612
|
|
|
NM_182961.4(SYNE1):c.13658G>A (p.Arg4553Gln)
|
|
|
|
NM_182961.4(SYNE1):c.13725C>T (p.Cys4575=)
|
|
|
|
NM_182961.4(SYNE1):c.13749_13751delinsGTG (p.Ile4583_Val4584delinsMetCys)
|
rs1590225545
|
|
|
NM_182961.4(SYNE1):c.13751T>A (p.Val4584Asp)
|
rs968829958
|
|
|
NM_182961.4(SYNE1):c.13752T>C (p.Val4584=)
|
|
|
|
NM_182961.4(SYNE1):c.13796A>G (p.His4599Arg)
|
|
|
|
NM_182961.4(SYNE1):c.13818A>G (p.Gln4606=)
|
|
|
|
NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile)
|
rs2153972296
|
|
|
NM_182961.4(SYNE1):c.13832A>T (p.Gln4611Leu)
|
rs762392590
|
|
|
NM_182961.4(SYNE1):c.13845T>C (p.Tyr4615=)
|
|
|
|
NM_182961.4(SYNE1):c.13851TCT[1] (p.Leu4620del)
|
rs1085307610
|
|
|
NM_182961.4(SYNE1):c.13863G>T (p.Thr4621=)
|
|
|
|
NM_182961.4(SYNE1):c.13877G>C (p.Gly4626Ala)
|
rs2096230090
|
|
|
NM_182961.4(SYNE1):c.13884C>A (p.Thr4628=)
|
|
|
|
NM_182961.4(SYNE1):c.13886T>C (p.Ile4629Thr)
|
|
|
|
NM_182961.4(SYNE1):c.13893A>G (p.Pro4631=)
|
|
|
|
NM_182961.4(SYNE1):c.13902T>C (p.Asn4634=)
|
|
|
|
NM_182961.4(SYNE1):c.13934_13935insTTT (p.Leu4645dup)
|
rs886043161
|
|
|
NM_182961.4(SYNE1):c.13952A>G (p.Gln4651Arg)
|
rs374697325
|
|
|
NM_182961.4(SYNE1):c.13998C>G (p.Val4666=)
|
|
|
|
NM_182961.4(SYNE1):c.14052C>T (p.Thr4684=)
|
|
|
|
NM_182961.4(SYNE1):c.14061G>T (p.Leu4687=)
|
rs3734365
|
|
|
NM_182961.4(SYNE1):c.14095A>G (p.Lys4699Glu)
|
|
|
|
NM_182961.4(SYNE1):c.14105C>T (p.Thr4702Ile)
|
|
|
|
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=)
|
rs146180064
|
|
|
NM_182961.4(SYNE1):c.1410G>T (p.Arg470Ser)
|
|
|
|
NM_182961.4(SYNE1):c.14116G>C (p.Val4706Leu)
|
rs374596074
|
|
|
NM_182961.4(SYNE1):c.1413T>C (p.Ser471=)
|
|
|
|
NM_182961.4(SYNE1):c.14147G>A (p.Cys4716Tyr)
|
rs1346910826
|
|
|
NM_182961.4(SYNE1):c.14164G>C (p.Glu4722Gln)
|
|
|
|
NM_182961.4(SYNE1):c.14180G>A (p.Gly4727Glu)
|
|
|
|
NM_182961.4(SYNE1):c.14198T>A (p.Leu4733Gln)
|
|
|
|
NM_182961.4(SYNE1):c.1419C>T (p.Asn473=)
|
|
|
|
NM_182961.4(SYNE1):c.14226C>T (p.Ser4742=)
|
rs2153970972
|
|
|
NM_182961.4(SYNE1):c.1422G>C (p.Gly474=)
|
|
|
|
NM_182961.4(SYNE1):c.14234A>G (p.Gln4745Arg)
|
|
|
|
NM_182961.4(SYNE1):c.14247A>G (p.Pro4749=)
|
|
|
|
NM_182961.4(SYNE1):c.1424T>C (p.Ile475Thr)
|
|
|
|
NM_182961.4(SYNE1):c.14253G>C (p.Lys4751Asn)
|
rs766721753
|
|
|
NM_182961.4(SYNE1):c.14278del (p.His4760fs)
|
rs2153970781
|
|
|
NM_182961.4(SYNE1):c.14279A>T (p.His4760Leu)
|
|
|
|
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
|
|
|
|
NM_182961.4(SYNE1):c.14299G>A (p.Glu4767Lys)
|
|
|
|
NM_182961.4(SYNE1):c.14318T>C (p.Leu4773Ser)
|
|
|
|
NM_182961.4(SYNE1):c.14319A>T (p.Leu4773Phe)
|
|
|
|
NM_182961.4(SYNE1):c.1432C>T (p.Pro478Ser)
|
rs756636517
|
|
|
NM_182961.4(SYNE1):c.14331C>T (p.Thr4777=)
|
rs768076321
|
|
|
NM_182961.4(SYNE1):c.14335G>A (p.Ala4779Thr)
|
rs368490158
|
|
|
NM_182961.4(SYNE1):c.14353A>G (p.Lys4785Glu)
|
rs2153970528
|
|
|
NM_182961.4(SYNE1):c.14359T>C (p.Cys4787Arg)
|
|
|
|
NM_182961.4(SYNE1):c.14378A>G (p.Gln4793Arg)
|
|
|
|
NM_182961.4(SYNE1):c.14398G>C (p.Glu4800Gln)
|
rs2096215013
|
|
|
NM_182961.4(SYNE1):c.14416G>A (p.Glu4806Lys)
|
rs746657854
|
|
|
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met)
|
rs373040273
|
|
|
NM_182961.4(SYNE1):c.14439G>A (p.Glu4813=)
|
|
|
|
NM_182961.4(SYNE1):c.14441A>G (p.Lys4814Arg)
|
|
|
|
NM_182961.4(SYNE1):c.14465C>A (p.Ala4822Glu)
|
|
|
|
NM_182961.4(SYNE1):c.14508C>T (p.Thr4836=)
|
|
|
|
NM_182961.4(SYNE1):c.14522A>G (p.Asp4841Gly)
|
rs2096212044
|
|
|
NM_182961.4(SYNE1):c.14548G>A (p.Ala4850Thr)
|
|
|
|
NM_182961.4(SYNE1):c.1455G>A (p.Met485Ile)
|
rs2154279827
|
|
|
NM_182961.4(SYNE1):c.14565G>A (p.Arg4855=)
|
|
|
|
NM_182961.4(SYNE1):c.14571G>A (p.Gln4857=)
|
rs1327323805
|
|
|
NM_182961.4(SYNE1):c.14578T>A (p.Ser4860Thr)
|
|
|
|
NM_182961.4(SYNE1):c.1458C>A (p.Ala486=)
|
|
|
|
NM_182961.4(SYNE1):c.1459G>A (p.Glu487Lys)
|
|
|
|
NM_182961.4(SYNE1):c.14609C>T (p.Ser4870Phe)
|
|
|
|
NM_182961.4(SYNE1):c.14611G>A (p.Ala4871Thr)
|
rs2096210316
|
|
|
NM_182961.4(SYNE1):c.14617G>A (p.Gly4873Ser)
|
rs2153969748
|
|
|
NM_182961.4(SYNE1):c.14619T>G (p.Gly4873=)
|
rs1355049690
|
|
|
NM_182961.4(SYNE1):c.14626G>A (p.Val4876Met)
|
rs1297328408
|
|
|
NM_182961.4(SYNE1):c.1463+17A>G
|
|
|
|
NM_182961.4(SYNE1):c.14636G>A (p.Cys4879Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.14639A>G (p.Glu4880Gly)
|
|
|
|
NM_182961.4(SYNE1):c.14649G>A (p.Met4883Ile)
|
rs922999800
|
|
|
NM_182961.4(SYNE1):c.14664C>T (p.Asp4888=)
|
|
|
|
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
|
|
|
|
NM_182961.4(SYNE1):c.14681G>A (p.Ser4894Asn)
|
rs2096207947
|
|
|
NM_182961.4(SYNE1):c.14695T>C (p.Trp4899Arg)
|
rs753891807
|
|
|
NM_182961.4(SYNE1):c.14738T>C (p.Leu4913Pro)
|
rs2096206184
|
|
|
NM_182961.4(SYNE1):c.14739A>G (p.Leu4913=)
|
|
|
|
NM_182961.4(SYNE1):c.14741A>G (p.Asp4914Gly)
|
|
|
|
NM_182961.4(SYNE1):c.14750T>A (p.Leu4917Gln)
|
rs2153969244
|
|
|
NM_182961.4(SYNE1):c.14751G>A (p.Leu4917=)
|
rs769489729
|
|
|
NM_182961.4(SYNE1):c.14756A>G (p.Asp4919Gly)
|
rs2096205614
|
|
|
NM_182961.4(SYNE1):c.14782C>G (p.Gln4928Glu)
|
|
|
|
NM_182961.4(SYNE1):c.14808C>T (p.Ser4936=)
|
rs886044346
|
|
|
NM_182961.4(SYNE1):c.14809A>C (p.Ser4937Arg)
|
rs780093837
|
|
|
NM_182961.4(SYNE1):c.1481C>T (p.Ser494Phe)
|
|
|
|
NM_182961.4(SYNE1):c.14829G>T (p.Ala4943=)
|
|
|
|
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala)
|
rs200954103
|
|
|
NM_182961.4(SYNE1):c.14854T>C (p.Phe4952Leu)
|
rs1044018341
|
|
|
NM_182961.4(SYNE1):c.14856C>T (p.Phe4952=)
|
|
|
|
NM_182961.4(SYNE1):c.14883G>C (p.Ala4961=)
|
rs539549948
|
|
|
NM_182961.4(SYNE1):c.148G>A (p.Val50Met)
|
rs1023433513
|
|
|
NM_182961.4(SYNE1):c.14917C>G (p.Leu4973Val)
|
rs35085679
|
|
|
NM_182961.4(SYNE1):c.14928C>T (p.Asp4976=)
|
rs2153968669
|
|
|
NM_182961.4(SYNE1):c.14955+19C>T
|
|
|
|
NM_182961.4(SYNE1):c.14955+7A>G
|
|
|
|
NM_182961.4(SYNE1):c.14956-14T>G
|
rs368344443
|
|
|
NM_182961.4(SYNE1):c.14956-19T>A
|
|
|
|
NM_182961.4(SYNE1):c.14978G>A (p.Ser4993Asn)
|
|
|
|
NM_182961.4(SYNE1):c.1498C>T (p.Leu500=)
|
|
|
|
NM_182961.4(SYNE1):c.1500A>G (p.Leu500=)
|
|
|
|
NM_182961.4(SYNE1):c.15038A>T (p.Gln5013Leu)
|
|
|
|
NM_182961.4(SYNE1):c.15045G>A (p.Leu5015=)
|
rs2153955529
|
|
|
NM_182961.4(SYNE1):c.15065G>T (p.Gly5022Val)
|
|
|
|
NM_182961.4(SYNE1):c.15073G>A (p.Val5025Met)
|
|
|
|
NM_182961.4(SYNE1):c.15080G>A (p.Ser5027Asn)
|
|
|
|
NM_182961.4(SYNE1):c.15089A>G (p.Glu5030Gly)
|
rs1563087715
|
|
|
NM_182961.4(SYNE1):c.15095T>C (p.Leu5032Pro)
|
rs2153955400
|
|
|
NM_182961.4(SYNE1):c.15122C>T (p.Thr5041Ile)
|
|
|
|
NM_182961.4(SYNE1):c.15124G>A (p.Glu5042Lys)
|
rs533927341
|
|
|
NM_182961.4(SYNE1):c.15140G>T (p.Ser5047Ile)
|
|
|
|
NM_182961.4(SYNE1):c.15151_15152delinsAT (p.Glu5051Met)
|
rs2096068834
|
|
|
NM_182961.4(SYNE1):c.15162C>A (p.Ser5054Arg)
|
|
|
|
NM_182961.4(SYNE1):c.1516T>C (p.Leu506=)
|
rs2154279133
|
|
|
NM_182961.4(SYNE1):c.15181C>G (p.Pro5061Ala)
|
rs886042595
|
|
|
NM_182961.4(SYNE1):c.15188T>C (p.Ile5063Thr)
|
rs1486769103
|
|
|
NM_182961.4(SYNE1):c.15220A>G (p.Lys5074Glu)
|
|
|
|
NM_182961.4(SYNE1):c.15227C>T (p.Ala5076Val)
|
rs756766678
|
|
|
NM_182961.4(SYNE1):c.15279G>A (p.Val5093=)
|
|
|
|
NM_182961.4(SYNE1):c.1528T>A (p.Tyr510Asn)
|
rs2154279114
|
|
|
NM_182961.4(SYNE1):c.15294-14T>C
|
|
|
|
NM_182961.4(SYNE1):c.15294-15T>C
|
rs2153953166
|
|
|
NM_182961.4(SYNE1):c.152A>G (p.Asp51Gly)
|
|
|
|
NM_182961.4(SYNE1):c.15301G>A (p.Ala5101Thr)
|
rs759275432
|
|
|
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter)
|
rs1270730854
|
|
|
NM_182961.4(SYNE1):c.1532G>A (p.Arg511His)
|
rs1432273399
|
|
|
NM_182961.4(SYNE1):c.15335A>C (p.Glu5112Ala)
|
rs2153953000
|
|
|
NM_182961.4(SYNE1):c.15341T>C (p.Ile5114Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15363A>G (p.Glu5121=)
|
rs2153952873
|
|
|
NM_182961.4(SYNE1):c.15364A>G (p.Lys5122Glu)
|
rs1309063617
|
|
|
NM_182961.4(SYNE1):c.15368A>G (p.Lys5123Arg)
|
rs2153952840
|
|
|
NM_182961.4(SYNE1):c.1539C>G (p.Leu513=)
|
|
|
|
NM_182961.4(SYNE1):c.1539C>T (p.Leu513=)
|
|
|
|
NM_182961.4(SYNE1):c.153C>T (p.Asp51=)
|
rs779081280
|
|
|
NM_182961.4(SYNE1):c.15423A>C (p.Lys5141Asn)
|
|
|
|
NM_182961.4(SYNE1):c.15428C>T (p.Ser5143Leu)
|
|
|
|
NM_182961.4(SYNE1):c.15434A>G (p.His5145Arg)
|
rs2153952625
|
|
|
NM_182961.4(SYNE1):c.15438+2T>C
|
|
|
|
NM_182961.4(SYNE1):c.15453G>A (p.Val5151=)
|
|
|
|
NM_182961.4(SYNE1):c.1546C>A (p.Leu516Met)
|
|
|
|
NM_182961.4(SYNE1):c.15470A>T (p.Glu5157Val)
|
|
|
|
NM_182961.4(SYNE1):c.15497C>T (p.Ala5166Val)
|
rs2153949505
|
|
|
NM_182961.4(SYNE1):c.154G>A (p.Asp52Asn)
|
rs560155321
|
|
|
NM_182961.4(SYNE1):c.15500C>T (p.Ser5167Leu)
|
|
|
|
NM_182961.4(SYNE1):c.15516C>G (p.Thr5172=)
|
rs777234795
|
|
|
NM_182961.4(SYNE1):c.15516C>T (p.Thr5172=)
|
rs777234795
|
|
|
NM_182961.4(SYNE1):c.15533A>T (p.Lys5178Ile)
|
rs2096026505
|
|
|
NM_182961.4(SYNE1):c.15535G>A (p.Ala5179Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15540C>G (p.Thr5180=)
|
rs748254961
|
|
|
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=)
|
rs774649954
|
|
|
NM_182961.4(SYNE1):c.15554T>C (p.Met5185Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15561C>A (p.Thr5187=)
|
rs780148867
|
|
|
NM_182961.4(SYNE1):c.15561C>T (p.Thr5187=)
|
|
|
|
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)
|
rs1554451078
|
|
|
NM_182961.4(SYNE1):c.1557A>G (p.Ala519=)
|
|
|
|
NM_182961.4(SYNE1):c.15580C>G (p.Arg5194Gly)
|
|
|
|
NM_182961.4(SYNE1):c.15581G>A (p.Arg5194His)
|
rs751121212
|
|
|
NM_182961.4(SYNE1):c.15584T>G (p.Leu5195Arg)
|
rs758161214
|
|
|
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
|
|
|
|
NM_182961.4(SYNE1):c.15587G>C (p.Arg5196Pro)
|
rs752229373
|
|
|
NM_182961.4(SYNE1):c.15615C>T (p.Ile5205=)
|
rs762262465
|
|
|
NM_182961.4(SYNE1):c.15618G>A (p.Leu5206=)
|
rs143034606
|
|
|
NM_182961.4(SYNE1):c.15620A>G (p.Glu5207Gly)
|
|
|
|
NM_182961.4(SYNE1):c.15636G>A (p.Glu5212=)
|
|
|
|
NM_182961.4(SYNE1):c.1563A>G (p.Ser521=)
|
|
|
|
NM_182961.4(SYNE1):c.15641C>T (p.Thr5214Met)
|
|
|
|
NM_182961.4(SYNE1):c.15657+19G>A
|
|
|
|
NM_182961.4(SYNE1):c.15657+7T>G
|
|
|
|
NM_182961.4(SYNE1):c.15658-12A>G
|
|
|
|
NM_182961.4(SYNE1):c.15658-16G>A
|
|
|
|
NM_182961.4(SYNE1):c.15658-17T>G
|
|
|
|
NM_182961.4(SYNE1):c.15678G>A (p.Met5226Ile)
|
rs2095955611
|
|
|
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs)
|
rs1291249200
|
|
|
NM_182961.4(SYNE1):c.15704C>T (p.Pro5235Leu)
|
rs2095954870
|
|
|
NM_182961.4(SYNE1):c.15725C>T (p.Ala5242Val)
|
|
|
|
NM_182961.4(SYNE1):c.15729G>A (p.Ser5243=)
|
rs1417590001
|
|
|
NM_182961.4(SYNE1):c.15750T>A (p.Leu5250=)
|
rs779480129
|
|
|
NM_182961.4(SYNE1):c.15763G>A (p.Asp5255Asn)
|
|
|
|
NM_182961.4(SYNE1):c.15767C>G (p.Thr5256Arg)
|
rs1379759625
|
|
|
NM_182961.4(SYNE1):c.15767C>T (p.Thr5256Met)
|
|
|
|
NM_182961.4(SYNE1):c.15771C>T (p.Phe5257=)
|
rs763330101
|
|
|
NM_182961.4(SYNE1):c.15772G>A (p.Val5258Ile)
|
|
|
|
NM_182961.4(SYNE1):c.15774T>A (p.Val5258=)
|
rs2095952504
|
|
|
NM_182961.4(SYNE1):c.15791A>G (p.Gln5264Arg)
|
rs2153938686
|
|
|
NM_182961.4(SYNE1):c.15797C>T (p.Ser5266Leu)
|
|
|
|
NM_182961.4(SYNE1):c.15798G>A (p.Ser5266=)
|
|
|
|
NM_182961.4(SYNE1):c.15816G>C (p.Arg5272=)
|
rs762050069
|
|
|
NM_182961.4(SYNE1):c.15823A>G (p.Thr5275Ala)
|
|
|
|
NM_182961.4(SYNE1):c.15830G>A (p.Ser5277Asn)
|
rs2095950565
|
|
|
NM_182961.4(SYNE1):c.15837_15917+69del
|
rs2153937126
|
|
|
NM_182961.4(SYNE1):c.15841G>A (p.Asp5281Asn)
|
rs1322082202
|
|
|
NM_182961.4(SYNE1):c.15849C>G (p.Ala5283=)
|
|
|
|
NM_182961.4(SYNE1):c.15849C>T (p.Ala5283=)
|
rs748953708
|
|
|
NM_182961.4(SYNE1):c.1584del (p.Lys529fs)
|
|
|
|
NM_182961.4(SYNE1):c.15850G>A (p.Ala5284Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15858C>G (p.Thr5286=)
|
|
|
|
NM_182961.4(SYNE1):c.15860C>T (p.Pro5287Leu)
|
rs758942889
|
|
|
NM_182961.4(SYNE1):c.15880A>G (p.Met5294Val)
|
rs768403781
|
|
|
NM_182961.4(SYNE1):c.15881T>C (p.Met5294Thr)
|
rs748905719
|
|
|
NM_182961.4(SYNE1):c.15897C>T (p.Ala5299=)
|
rs1590061246
|
|
|
NM_182961.4(SYNE1):c.15898A>T (p.Met5300Leu)
|
rs1221150819
|
|
|
NM_182961.4(SYNE1):c.15907C>A (p.Arg5303=)
|
rs149215868
|
|
|
NM_182961.4(SYNE1):c.15913C>A (p.Leu5305Met)
|
rs2153937753
|
|
|
NM_182961.4(SYNE1):c.15917+3A>T
|
rs2153937725
|
|
|
NM_182961.4(SYNE1):c.15918-15G>C
|
|
|
|
NM_182961.4(SYNE1):c.15919A>T (p.Met5307Leu)
|
rs1554441847
|
|
|
NM_182961.4(SYNE1):c.15951G>C (p.Leu5317Phe)
|
|
|
|
NM_182961.4(SYNE1):c.15952G>A (p.Val5318Met)
|
rs886061203
|
|
|
NM_182961.4(SYNE1):c.1596G>A (p.Arg532=)
|
rs771982103
|
|
|
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter)
|
rs781354327
|
|
|
NM_182961.4(SYNE1):c.15978A>C (p.Glu5326Asp)
|
rs2095874810
|
|
|
NM_182961.4(SYNE1):c.16021G>A (p.Glu5341Lys)
|
rs765080592
|
|
|
NM_182961.4(SYNE1):c.16039G>T (p.Gly5347Trp)
|
|
|
|
NM_182961.4(SYNE1):c.1603T>A (p.Ser535Thr)
|
|
|
|
NM_182961.4(SYNE1):c.16048A>G (p.Thr5350Ala)
|
rs2095873538
|
|
|
NM_182961.4(SYNE1):c.16050AATAGA[1] (p.Glu5352_Ile5353del)
|
rs1487695655
|
|
|
NM_182961.4(SYNE1):c.16067A>T (p.Gln5356Leu)
|
|
|
|
NM_182961.4(SYNE1):c.16083+16_16083+18del
|
rs756884141
|
|
|
NM_182961.4(SYNE1):c.16083+19A>G
|
|
|
|
NM_182961.4(SYNE1):c.16084-11C>A
|
|
|
|
NM_182961.4(SYNE1):c.16084-13A>G
|
|
|
|
NM_182961.4(SYNE1):c.16102A>G (p.Thr5368Ala)
|
rs1342214470
|
|
|
NM_182961.4(SYNE1):c.16103C>G (p.Thr5368Arg)
|
|
|
|
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)
|
rs772587027
|
|
|
NM_182961.4(SYNE1):c.16156T>C (p.Leu5386=)
|
rs2095864787
|
|
|
NM_182961.4(SYNE1):c.16158A>T (p.Leu5386Phe)
|
rs942561370
|
|
|
NM_182961.4(SYNE1):c.1617T>C (p.Leu539=)
|
rs886043491
|
|
|
NM_182961.4(SYNE1):c.16204G>A (p.Glu5402Lys)
|
rs1320150804
|
|
|
NM_182961.4(SYNE1):c.16205A>T (p.Glu5402Val)
|
rs2153923807
|
|
|
NM_182961.4(SYNE1):c.16228C>G (p.Arg5410Gly)
|
|
|
|
NM_182961.4(SYNE1):c.16236+4A>C
|
|
|
|
NM_182961.4(SYNE1):c.16236+7C>T
|
|
|
|
NM_182961.4(SYNE1):c.16237-2A>G
|
rs2153903647
|
|
|
NM_182961.4(SYNE1):c.16237-3del
|
rs752661566
|
|
|
NM_182961.4(SYNE1):c.16237-3dup
|
|
|
|
NM_182961.4(SYNE1):c.1623A>G (p.Gln541=)
|
|
|
|
NM_182961.4(SYNE1):c.16248A>C (p.Lys5416Asn)
|
rs2095804308
|
|
|
NM_182961.4(SYNE1):c.16257A>G (p.Glu5419=)
|
|
|
|
NM_182961.4(SYNE1):c.16278G>T (p.Thr5426=)
|
|
|
|
NM_182961.4(SYNE1):c.16294C>A (p.Arg5432=)
|
rs575137601
|
|
|
NM_182961.4(SYNE1):c.1632+11del
|
rs763013262
|
|
|
NM_182961.4(SYNE1):c.1632+12G>A
|
|
|
|
NM_182961.4(SYNE1):c.1632+3G>A
|
|
|
|
NM_182961.4(SYNE1):c.1632+7C>A
|
rs779081729
|
|
|
NM_182961.4(SYNE1):c.16326A>G (p.Thr5442=)
|
|
|
|
NM_182961.4(SYNE1):c.16342C>A (p.Leu5448Met)
|
|
|
|
NM_182961.4(SYNE1):c.16349C>A (p.Ala5450Glu)
|
rs181649865
|
|
|
NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val)
|
rs181649865
|
|
|
NM_182961.4(SYNE1):c.16355C>T (p.Thr5452Ile)
|
|
|
|
NM_182961.4(SYNE1):c.16383C>T (p.Asp5461=)
|
|
|
|
NM_182961.4(SYNE1):c.16388A>T (p.Lys5463Met)
|
|
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
|
NM_182961.4(SYNE1):c.16390-6A>G
|
rs886043083
|
|
|
NM_182961.4(SYNE1):c.16410T>C (p.Asp5470=)
|
|
|
|
NM_182961.4(SYNE1):c.16415G>A (p.Cys5472Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.16434A>G (p.Glu5478=)
|
|
|
|
NM_182961.4(SYNE1):c.16442C>T (p.Ala5481Val)
|
|
|
|
NM_182961.4(SYNE1):c.16443A>C (p.Ala5481=)
|
rs1255821455
|
|
|
NM_182961.4(SYNE1):c.16461G>A (p.Leu5487=)
|
|
|
|
NM_182961.4(SYNE1):c.16472G>T (p.Gly5491Val)
|
rs530429418
|
|
|
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=)
|
rs141380170
|
|
|
NM_182961.4(SYNE1):c.16495A>C (p.Lys5499Gln)
|
rs2153899250
|
|
|
NM_182961.4(SYNE1):c.16501A>G (p.Ile5501Val)
|
rs2153899235
|
|
|
NM_182961.4(SYNE1):c.16501_16504del (p.Ile5501fs)
|
|
|
|
NM_182961.4(SYNE1):c.1650C>G (p.Ser550Arg)
|
|
|
|
NM_182961.4(SYNE1):c.16534A>G (p.Ile5512Val)
|
rs2095781749
|
|
|
NM_182961.4(SYNE1):c.1653G>C (p.Lys551Asn)
|
rs886061216
|
|
|
NM_182961.4(SYNE1):c.16551T>C (p.Asn5517=)
|
|
|
|
NM_182961.4(SYNE1):c.16573-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.16575A>G (p.Ala5525=)
|
|
|
|
NM_182961.4(SYNE1):c.16578A>G (p.Ala5526=)
|
rs1589922810
|
|
|
NM_182961.4(SYNE1):c.16584T>C (p.His5528=)
|
|
|
|
NM_182961.4(SYNE1):c.16618T>C (p.Leu5540=)
|
rs2153893153
|
|
|
NM_182961.4(SYNE1):c.16619T>C (p.Leu5540Ser)
|
rs1563012099
|
|
|
NM_182961.4(SYNE1):c.16641A>T (p.Lys5547Asn)
|
rs2153893118
|
|
|
NM_182961.4(SYNE1):c.16648G>C (p.Ala5550Pro)
|
|
|
|
NM_182961.4(SYNE1):c.16662T>C (p.Ile5554=)
|
rs2153892983
|
|
|
NM_182961.4(SYNE1):c.16666T>A (p.Trp5556Arg)
|
rs2095739223
|
|
|
NM_182961.4(SYNE1):c.16673C>T (p.Ser5558Phe)
|
rs1379717748
|
|
|
NM_182961.4(SYNE1):c.16688G>A (p.Arg5563Gln)
|
|
|
|
NM_182961.4(SYNE1):c.16711-4C>G
|
rs2153837083
|
|
|
NM_182961.4(SYNE1):c.16746G>A (p.Glu5582=)
|
|
|
|
NM_182961.4(SYNE1):c.16763A>G (p.Glu5588Gly)
|
|
|
|
NM_182961.4(SYNE1):c.16764G>A (p.Glu5588=)
|
|
|
|
NM_182961.4(SYNE1):c.167A>G (p.Asp56Gly)
|
|
|
|
NM_182961.4(SYNE1):c.16809T>C (p.Ser5603=)
|
|
|
|
NM_182961.4(SYNE1):c.1680C>T (p.Tyr560=)
|
|
|
|
NM_182961.4(SYNE1):c.16811A>C (p.Gln5604Pro)
|
rs886043922
|
|
|
NM_182961.4(SYNE1):c.16813C>A (p.Gln5605Lys)
|
rs1045463275
|
|
|
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs)
|
rs886043923
|
|
|
NM_182961.4(SYNE1):c.16834G>A (p.Glu5612Lys)
|
|
|
|
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter)
|
rs777656140
|
|
|
NM_182961.4(SYNE1):c.16842G>A (p.Glu5614=)
|
|
|
|
NM_182961.4(SYNE1):c.16849C>A (p.Arg5617=)
|
|
|
|
NM_182961.4(SYNE1):c.16859T>G (p.Ile5620Ser)
|
rs765080468
|
|
|
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter)
|
rs2153836962
|
|
|
NM_182961.4(SYNE1):c.16896+1G>T
|
|
|
|
NM_182961.4(SYNE1):c.16896+20del
|
rs545568394
|
|
|
NM_182961.4(SYNE1):c.16896+9dup
|
rs761957607
|
|
|
NM_182961.4(SYNE1):c.16897-20C>T
|
|
|
|
NM_182961.4(SYNE1):c.16897-6C>G
|
rs372179792
|
|
|
NM_182961.4(SYNE1):c.16909T>A (p.Phe5637Ile)
|
|
|
|
NM_182961.4(SYNE1):c.16921T>C (p.Leu5641=)
|
rs1554410681
|
|
|
NM_182961.4(SYNE1):c.16923G>A (p.Leu5641=)
|
rs869025528
|
|
|
NM_182961.4(SYNE1):c.16929G>A (p.Lys5643=)
|
|
|
|
NM_182961.4(SYNE1):c.16942T>C (p.Leu5648=)
|
|
|
|
NM_182961.4(SYNE1):c.16945G>A (p.Glu5649Lys)
|
rs2153836745
|
|
|
NM_182961.4(SYNE1):c.16958C>A (p.Ala5653Glu)
|
rs776905124
|
|
|
NM_182961.4(SYNE1):c.16963C>T (p.Leu5655=)
|
|
|
|
NM_182961.4(SYNE1):c.16974A>G (p.Pro5658=)
|
rs771166232
|
|
|
NM_182961.4(SYNE1):c.16978G>A (p.Val5660Ile)
|
|
|
|
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser)
|
rs145899734
|
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
|
NM_182961.4(SYNE1):c.17001G>A (p.Glu5667=)
|
rs2153836703
|
|
|
NM_182961.4(SYNE1):c.17015G>A (p.Arg5672Gln)
|
rs886043150
|
|
|
NM_182961.4(SYNE1):c.17019+7C>T
|
rs2095511412
|
|
|
NM_182961.4(SYNE1):c.1701T>C (p.Ala567=)
|
|
|
|
NM_182961.4(SYNE1):c.17020-10G>A
|
rs1307856395
|
|
|
NM_182961.4(SYNE1):c.17020-12T>G
|
rs1236300785
|
|
|
NM_182961.4(SYNE1):c.17020-9C>A
|
rs2153836238
|
|
|
NM_182961.4(SYNE1):c.17037G>A (p.Met5679Ile)
|
rs2095499163
|
|
|
NM_182961.4(SYNE1):c.17051C>T (p.Pro5684Leu)
|
|
|
|
NM_182961.4(SYNE1):c.17053A>G (p.Lys5685Glu)
|
|
|
|
NM_182961.4(SYNE1):c.17063C>A (p.Ala5688Glu)
|
|
|
|
NM_182961.4(SYNE1):c.17065G>A (p.Val5689Met)
|
rs1479722158
|
|
|
NM_182961.4(SYNE1):c.17067G>A (p.Val5689=)
|
|
|
|
NM_182961.4(SYNE1):c.17067G>C (p.Val5689=)
|
|
|
|
NM_182961.4(SYNE1):c.17079G>A (p.Gln5693=)
|
|
|
|
NM_182961.4(SYNE1):c.1707G>A (p.Met569Ile)
|
|
|
|
NM_182961.4(SYNE1):c.17121T>G (p.Pro5707=)
|
|
|
|
NM_182961.4(SYNE1):c.17133T>G (p.Ala5711=)
|
rs2153836101
|
|
|
NM_182961.4(SYNE1):c.17134G>T (p.Ala5712Ser)
|
rs2153836097
|
|
|
NM_182961.4(SYNE1):c.17145G>A (p.Leu5715=)
|
|
|
|
NM_182961.4(SYNE1):c.17150A>G (p.Glu5717Gly)
|
rs780396166
|
|
|
NM_182961.4(SYNE1):c.1715A>G (p.Lys572Arg)
|
rs1192063694
|
|
|
NM_182961.4(SYNE1):c.17161C>A (p.Arg5721=)
|
rs138941941
|
|
|
NM_182961.4(SYNE1):c.17161C>T (p.Arg5721Trp)
|
rs138941941
|
|
|
NM_182961.4(SYNE1):c.17176G>A (p.Ala5726Thr)
|
rs775685010
|
|
|
NM_182961.4(SYNE1):c.17176G>T (p.Ala5726Ser)
|
|
|
|
NM_182961.4(SYNE1):c.17202+16C>T
|
|
|
|
NM_182961.4(SYNE1):c.17202G>A (p.Gln5734=)
|
|
|
|
NM_182961.4(SYNE1):c.17203-15T>G
|
|
|
|
NM_182961.4(SYNE1):c.17203-3A>T
|
rs1156531105
|
|
|
NM_182961.4(SYNE1):c.17203-6del
|
rs55633181
|
|
|
NM_182961.4(SYNE1):c.17203-7_17203-6del
|
rs55633181
|
|
|
NM_182961.4(SYNE1):c.17203-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)
|
rs746328978
|
|
|
NM_182961.4(SYNE1):c.17226A>G (p.Gln5742=)
|
|
|
|
NM_182961.4(SYNE1):c.17246A>C (p.His5749Pro)
|
rs2095450657
|
|
|
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
|
|
|
|
NM_182961.4(SYNE1):c.1729+8A>C
|
|
|
|
NM_182961.4(SYNE1):c.17308A>G (p.Asn5770Asp)
|
|
|
|
NM_182961.4(SYNE1):c.17314C>A (p.Gln5772Lys)
|
rs2095448965
|
|
|
NM_182961.4(SYNE1):c.17322G>A (p.Leu5774=)
|
rs752995421
|
|
|
NM_182961.4(SYNE1):c.17326G>A (p.Ala5776Thr)
|
rs774018511
|
|
|
NM_182961.4(SYNE1):c.17346+16G>A
|
|
|
|
NM_182961.4(SYNE1):c.17346+17C>T
|
|
|
|
NM_182961.4(SYNE1):c.17346+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.17347-13A>G
|
|
|
|
NM_182961.4(SYNE1):c.17347-5C>T
|
rs886043152
|
|
|
NM_182961.4(SYNE1):c.17367G>A (p.Lys5789=)
|
|
|
|
NM_182961.4(SYNE1):c.17368G>A (p.Gly5790Ser)
|
rs764611066
|
|
|
NM_182961.4(SYNE1):c.17369G>A (p.Gly5790Asp)
|
rs2153813360
|
|
|
NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
|
|
|
|
NM_182961.4(SYNE1):c.17426C>G (p.Ala5809Gly)
|
rs2095195177
|
|
|
NM_182961.4(SYNE1):c.17427C>T (p.Ala5809=)
|
|
|
|
NM_182961.4(SYNE1):c.17448G>C (p.Leu5816=)
|
|
|
|
NM_182961.4(SYNE1):c.17450C>T (p.Thr5817Met)
|
|
|
|
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys)
|
rs918895767
|
|
|
NM_182961.4(SYNE1):c.17458G>C (p.Glu5820Gln)
|
rs918895767
|
|
|
NM_182961.4(SYNE1):c.17459A>G (p.Glu5820Gly)
|
rs886042413
|
|
|
NM_182961.4(SYNE1):c.17466G>A (p.Glu5822=)
|
|
|
|
NM_182961.4(SYNE1):c.17471T>A (p.Leu5824Gln)
|
|
|
|
NM_182961.4(SYNE1):c.1747G>T (p.Val583Leu)
|
|
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
|
NM_182961.4(SYNE1):c.17484A>G (p.Thr5828=)
|
|
|
|
NM_182961.4(SYNE1):c.17488G>C (p.Asp5830His)
|
rs2095191599
|
|
|
NM_182961.4(SYNE1):c.17494G>A (p.Asp5832Asn)
|
|
|
|
NM_182961.4(SYNE1):c.17496T>C (p.Asp5832=)
|
|
|
|
NM_182961.4(SYNE1):c.17499G>A (p.Gly5833=)
|
rs754642929
|
|
|
NM_182961.4(SYNE1):c.17501A>T (p.Glu5834Val)
|
rs2153813002
|
|
|
NM_182961.4(SYNE1):c.17521G>A (p.Ala5841Thr)
|
rs2095189465
|
|
|
NM_182961.4(SYNE1):c.17529C>G (p.Pro5843=)
|
rs775771199
|
|
|
NM_182961.4(SYNE1):c.17529C>T (p.Pro5843=)
|
rs775771199
|
|
|
NM_182961.4(SYNE1):c.17541+12G>T
|
|
|
|
NM_182961.4(SYNE1):c.17541+13_17541+15del
|
|
|
|
NM_182961.4(SYNE1):c.17541+17T>A
|
|
|
|
NM_182961.4(SYNE1):c.17542-5G>A
|
rs776747142
|
|
|
NM_182961.4(SYNE1):c.17582C>A (p.Thr5861Asn)
|
rs1450245566
|
|
|
NM_182961.4(SYNE1):c.17586G>A (p.Glu5862=)
|
rs186716473
|
|
|
NM_182961.4(SYNE1):c.17597A>C (p.Glu5866Ala)
|
|
|
|
NM_182961.4(SYNE1):c.17605A>G (p.Thr5869Ala)
|
rs2153809663
|
|
|
NM_182961.4(SYNE1):c.17610C>T (p.Asn5870=)
|
|
|
|
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs)
|
rs2153809530
|
|
|
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu)
|
rs767844376
|
|
|
NM_182961.4(SYNE1):c.17652T>C (p.Pro5884=)
|
|
|
|
NM_182961.4(SYNE1):c.17661T>C (p.Asn5887=)
|
|
|
|
NM_182961.4(SYNE1):c.17682+4C>T
|
|
|
|
NM_182961.4(SYNE1):c.17683-18T>C
|
|
|
|
NM_182961.4(SYNE1):c.17698C>G (p.Gln5900Glu)
|
|
|
|
NM_182961.4(SYNE1):c.17703C>T (p.Ala5901=)
|
|
|
|
NM_182961.4(SYNE1):c.1770C>T (p.Thr590=)
|
|
|
|
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
|
|
|
|
NM_182961.4(SYNE1):c.17716A>C (p.Arg5906=)
|
rs1178186821
|
|
|
NM_182961.4(SYNE1):c.17733T>G (p.Ala5911=)
|
rs1240369601
|
|
|
NM_182961.4(SYNE1):c.1773C>T (p.Thr591=)
|
|
|
|
NM_182961.4(SYNE1):c.17748C>T (p.Pro5916=)
|
|
|
|
NM_182961.4(SYNE1):c.1774G>A (p.Ala592Thr)
|
rs747150703
|
|
|
NM_182961.4(SYNE1):c.17758G>T (p.Ala5920Ser)
|
rs765300968
|
|
|
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=)
|
rs997194150
|
|
|
NM_182961.4(SYNE1):c.17796C>T (p.Ser5932=)
|
rs531884117
|
|
|
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
|
|
|
|
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs)
|
rs794727986
|
|
|
NM_182961.4(SYNE1):c.17839T>C (p.Leu5947=)
|
rs2153785123
|
|
|
NM_182961.4(SYNE1):c.17850+4A>G
|
rs200922100
|
|
|
NM_182961.4(SYNE1):c.17851-11T>A
|
|
|
|
NM_182961.4(SYNE1):c.17851-6G>A
|
|
|
|
NM_182961.4(SYNE1):c.17865G>A (p.Gln5955=)
|
|
|
|
NM_182961.4(SYNE1):c.1786A>C (p.Asn596His)
|
|
|
|
NM_182961.4(SYNE1):c.17890C>T (p.Arg5964Cys)
|
|
|
|
NM_182961.4(SYNE1):c.17925C>A (p.Ile5975=)
|
|
|
|
NM_182961.4(SYNE1):c.17931G>A (p.Thr5977=)
|
|
|
|
NM_182961.4(SYNE1):c.17943C>T (p.Ala5981=)
|
|
|
|
NM_182961.4(SYNE1):c.1794A>G (p.Ser598=)
|
rs141424852
|
|
|
NM_182961.4(SYNE1):c.17956C>A (p.Leu5986Ile)
|
|
|
|
NM_182961.4(SYNE1):c.17959A>G (p.Ser5987Gly)
|
|
|
|
NM_182961.4(SYNE1):c.17964G>A (p.Glu5988=)
|
rs1589457034
|
|
|
NM_182961.4(SYNE1):c.17967C>A (p.Ser5989Arg)
|
rs2153782971
|
|
|
NM_182961.4(SYNE1):c.17990A>G (p.Glu5997Gly)
|
rs1554363340
|
|
|
NM_182961.4(SYNE1):c.18004G>A (p.Glu6002Lys)
|
rs1589456322
|
|
|
NM_182961.4(SYNE1):c.18007C>T (p.His6003Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.18010C>G (p.Gln6004Glu)
|
|
|
|
NM_182961.4(SYNE1):c.18012+12del
|
|
|
|
NM_182961.4(SYNE1):c.18013-11C>T
|
|
|
|
NM_182961.4(SYNE1):c.18013-3C>T
|
rs2153732604
|
|
|
NM_182961.4(SYNE1):c.18016T>C (p.Leu6006=)
|
rs1589316417
|
|
|
NM_182961.4(SYNE1):c.18039C>G (p.Leu6013=)
|
|
|
|
NM_182961.4(SYNE1):c.18052A>G (p.Asn6018Asp)
|
|
|
|
NM_182961.4(SYNE1):c.18073G>T (p.Ala6025Ser)
|
|
|
|
NM_182961.4(SYNE1):c.18078G>A (p.Glu6026=)
|
|
|
|
NM_182961.4(SYNE1):c.18080A>G (p.Glu6027Gly)
|
rs780920250
|
|
|
NM_182961.4(SYNE1):c.180T>A (p.Gly60=)
|
rs761395846
|
|
|
NM_182961.4(SYNE1):c.180T>C (p.Gly60=)
|
rs761395846
|
|
|
NM_182961.4(SYNE1):c.180T>G (p.Gly60=)
|
rs761395846
|
|
|
NM_182961.4(SYNE1):c.18106G>C (p.Asp6036His)
|
rs147615757
|
|
|
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs)
|
rs2153732048
|
|
|
NM_182961.4(SYNE1):c.18147C>T (p.Val6049=)
|
|
|
|
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=)
|
rs201090220
|
|
|
NM_182961.4(SYNE1):c.18161T>C (p.Met6054Thr)
|
rs2153731962
|
|
|
NM_182961.4(SYNE1):c.18186G>C (p.Ser6062=)
|
rs1057523204
|
|
|
NM_182961.4(SYNE1):c.18202T>C (p.Leu6068=)
|
rs995318683
|
|
|
NM_182961.4(SYNE1):c.18207+13T>G
|
|
|
|
NM_182961.4(SYNE1):c.18208-1G>A
|
rs2153725036
|
|
|
NM_182961.4(SYNE1):c.18208-26_18208-12del
|
|
|
|
NM_182961.4(SYNE1):c.18208-4A>G
|
rs1246664941
|
|
|
NM_182961.4(SYNE1):c.18208G>A (p.Glu6070Lys)
|
rs886043015
|
|
|
NM_182961.4(SYNE1):c.18240G>A (p.Arg6080=)
|
rs567954466
|
|
|
NM_182961.4(SYNE1):c.18242A>G (p.Gln6081Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18259A>C (p.Arg6087=)
|
rs2153724903
|
|
|
NM_182961.4(SYNE1):c.1825G>A (p.Glu609Lys)
|
rs2154269816
|
|
|
NM_182961.4(SYNE1):c.18265C>T (p.Arg6089Cys)
|
|
|
|
NM_182961.4(SYNE1):c.18276C>T (p.Ala6092=)
|
rs2153724828
|
|
|
NM_182961.4(SYNE1):c.18290G>A (p.Ser6097Asn)
|
|
|
|
NM_182961.4(SYNE1):c.18308A>G (p.Lys6103Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18361_18362delinsAT (p.Ala6121Ile)
|
rs2153724594
|
|
|
NM_182961.4(SYNE1):c.18381+12G>C
|
rs1405193041
|
|
|
NM_182961.4(SYNE1):c.18381+3A>C
|
rs2153724535
|
|
|
NM_182961.4(SYNE1):c.18381+9dup
|
rs1160319452
|
|
|
NM_182961.4(SYNE1):c.18382-19_18382-17dup
|
rs1379525352
|
|
|
NM_182961.4(SYNE1):c.18382-1G>A
|
rs762660111
|
|
|
NM_182961.4(SYNE1):c.18382-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.18389T>G (p.Leu6130Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18414G>A (p.Val6138=)
|
|
|
|
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter)
|
rs2153709458
|
|
|
NM_182961.4(SYNE1):c.18447C>T (p.Asn6149=)
|
rs374468447
|
|
|
NM_182961.4(SYNE1):c.18459G>A (p.Glu6153=)
|
|
|
|
NM_182961.4(SYNE1):c.18486C>G (p.Ala6162=)
|
rs140168690
|
|
|
NM_182961.4(SYNE1):c.18487G>A (p.Glu6163Lys)
|
|
|
|
NM_182961.4(SYNE1):c.18504G>T (p.Lys6168Asn)
|
|
|
|
NM_182961.4(SYNE1):c.18520G>A (p.Gly6174Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18528G>C (p.Leu6176=)
|
|
|
|
NM_182961.4(SYNE1):c.18537G>T (p.Leu6179=)
|
|
|
|
NM_182961.4(SYNE1):c.18551A>G (p.His6184Arg)
|
rs2093773675
|
|
|
NM_182961.4(SYNE1):c.18565A>G (p.Asn6189Asp)
|
|
|
|
NM_182961.4(SYNE1):c.18569T>A (p.Met6190Lys)
|
rs867471417
|
|
|
NM_182961.4(SYNE1):c.18570G>A (p.Met6190Ile)
|
rs886044368
|
|
|
NM_182961.4(SYNE1):c.18573+13G>C
|
|
|
|
NM_182961.4(SYNE1):c.18573+16G>A
|
rs368633364
|
|
|
NM_182961.4(SYNE1):c.18574-11G>A
|
rs1477560269
|
|
|
NM_182961.4(SYNE1):c.18574-11G>C
|
|
|
|
NM_182961.4(SYNE1):c.18574-12C>T
|
|
|
|
NM_182961.4(SYNE1):c.18576A>G (p.Gly6192=)
|
rs1267116175
|
|
|
NM_182961.4(SYNE1):c.18588G>A (p.Glu6196=)
|
|
|
|
NM_182961.4(SYNE1):c.18592GAG[1] (p.Glu6199del)
|
rs771543751
|
|
|
NM_182961.4(SYNE1):c.18602A>G (p.Asp6201Gly)
|
rs375829264
|
|
|
NM_182961.4(SYNE1):c.18602A>T (p.Asp6201Val)
|
rs375829264
|
|
|
NM_182961.4(SYNE1):c.18605T>A (p.Val6202Asp)
|
|
|
|
NM_182961.4(SYNE1):c.18619A>T (p.Thr6207Ser)
|
|
|
|
NM_182961.4(SYNE1):c.18633C>G (p.Gly6211=)
|
|
|
|
NM_182961.4(SYNE1):c.18658C>A (p.Arg6220Ser)
|
rs201685248
|
|
|
NM_182961.4(SYNE1):c.18659G>T (p.Arg6220Leu)
|
rs377307244
|
|
|
NM_182961.4(SYNE1):c.18664A>G (p.Thr6222Ala)
|
rs886061202
|
|
|
NM_182961.4(SYNE1):c.1867G>A (p.Ala623Thr)
|
|
|
|
NM_182961.4(SYNE1):c.18680G>A (p.Arg6227Gln)
|
|
|
|
NM_182961.4(SYNE1):c.18680G>T (p.Arg6227Leu)
|
rs778929049
|
|
|
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)
|
rs910956017
|
|
|
NM_182961.4(SYNE1):c.18683A>G (p.Gln6228Arg)
|
|
|
|
NM_182961.4(SYNE1):c.186A>G (p.Lys62=)
|
rs768365924
|
|
|
NM_182961.4(SYNE1):c.18705+15A>G
|
|
|
|
NM_182961.4(SYNE1):c.18705+6G>A
|
rs2153679070
|
|
|
NM_182961.4(SYNE1):c.18705+7T>C
|
rs2153679057
|
|
|
NM_182961.4(SYNE1):c.18706-12T>C
|
|
|
|
NM_182961.4(SYNE1):c.18706-15C>T
|
|
|
|
NM_182961.4(SYNE1):c.18706-3C>T
|
|
|
|
NM_182961.4(SYNE1):c.1871G>A (p.Ser624Asn)
|
|
|
|
NM_182961.4(SYNE1):c.18720A>G (p.Glu6240=)
|
|
|
|
NM_182961.4(SYNE1):c.18725C>A (p.Ala6242Asp)
|
rs2092880052
|
|
|
NM_182961.4(SYNE1):c.18726C>T (p.Ala6242=)
|
|
|
|
NM_182961.4(SYNE1):c.18727G>C (p.Glu6243Gln)
|
rs200360218
|
|
|
NM_182961.4(SYNE1):c.18737G>A (p.Ser6246Asn)
|
rs2092878526
|
|
|
NM_182961.4(SYNE1):c.18759T>C (p.Ser6253=)
|
rs2153673156
|
|
|
NM_182961.4(SYNE1):c.18776T>C (p.Leu6259Pro)
|
rs886061201
|
|
|
NM_182961.4(SYNE1):c.18789G>T (p.Ser6263=)
|
|
|
|
NM_182961.4(SYNE1):c.18806G>T (p.Gly6269Val)
|
rs1275027623
|
|
|
NM_182961.4(SYNE1):c.18807T>C (p.Gly6269=)
|
rs1235198872
|
|
|
NM_182961.4(SYNE1):c.18815+8T>C
|
rs2153672915
|
|
|
NM_182961.4(SYNE1):c.18823C>T (p.Pro6275Ser)
|
|
|
|
NM_182961.4(SYNE1):c.18824C>T (p.Pro6275Leu)
|
rs2092093757
|
|
|
NM_182961.4(SYNE1):c.18840G>A (p.Gln6280=)
|
|
|
|
NM_182961.4(SYNE1):c.18844T>C (p.Leu6282=)
|
|
|
|
NM_182961.4(SYNE1):c.18849G>A (p.Gly6283=)
|
rs776505129
|
|
|
NM_182961.4(SYNE1):c.18864A>G (p.Lys6288=)
|
|
|
|
NM_182961.4(SYNE1):c.18875A>G (p.Glu6292Gly)
|
|
|
|
NM_182961.4(SYNE1):c.18876A>C (p.Glu6292Asp)
|
rs778537486
|
|
|
NM_182961.4(SYNE1):c.18885G>A (p.Met6295Ile)
|
|
|
|
NM_182961.4(SYNE1):c.1890G>A (p.Glu630=)
|
|
|
|
NM_182961.4(SYNE1):c.1891G>T (p.Asp631Tyr)
|
rs771327791
|
|
|
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
|
|
|
|
NM_182961.4(SYNE1):c.18945T>C (p.Asn6315=)
|
|
|
|
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
|
|
|
|
NM_182961.4(SYNE1):c.18954A>G (p.Glu6318=)
|
|
|
|
NM_182961.4(SYNE1):c.18964G>C (p.Glu6322Gln)
|
rs376472604
|
|
|
NM_182961.4(SYNE1):c.18972G>C (p.Val6324=)
|
rs1316935433
|
|
|
NM_182961.4(SYNE1):c.18973-11_18973-9delinsATG
|
|
|
|
NM_182961.4(SYNE1):c.18973-12G>A
|
|
|
|
NM_182961.4(SYNE1):c.18981C>T (p.Ser6327=)
|
|
|
|
NM_182961.4(SYNE1):c.19001C>T (p.Ser6334Phe)
|
|
|
|
NM_182961.4(SYNE1):c.19010C>G (p.Pro6337Arg)
|
rs2090949177
|
|
|
NM_182961.4(SYNE1):c.19051G>A (p.Val6351Ile)
|
rs2090941359
|
|
|
NM_182961.4(SYNE1):c.19071A>T (p.Gly6357=)
|
|
|
|
NM_182961.4(SYNE1):c.19084T>A (p.Phe6362Ile)
|
rs2090937224
|
|
|
NM_182961.4(SYNE1):c.19092G>A (p.Glu6364=)
|
|
|
|
NM_182961.4(SYNE1):c.19093G>T (p.Val6365Phe)
|
rs2153628762
|
|
|
NM_182961.4(SYNE1):c.19104+11G>A
|
rs1210886004
|
|
|
NM_182961.4(SYNE1):c.19104+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.19105-15T>C
|
|
|
|
NM_182961.4(SYNE1):c.19105-16G>A
|
|
|
|
NM_182961.4(SYNE1):c.19105-19C>T
|
|
|
|
NM_182961.4(SYNE1):c.19114G>A (p.Ala6372Thr)
|
rs769911507
|
|
|
NM_182961.4(SYNE1):c.19114G>T (p.Ala6372Ser)
|
|
|
|
NM_182961.4(SYNE1):c.19117A>G (p.Lys6373Glu)
|
rs1554285472
|
|
|
NM_182961.4(SYNE1):c.19122G>T (p.Arg6374Ser)
|
|
|
|
NM_182961.4(SYNE1):c.19130T>C (p.Ile6377Thr)
|
rs1588858602
|
|
|
NM_182961.4(SYNE1):c.19132C>G (p.His6378Asp)
|
rs781479222
|
|
|
NM_182961.4(SYNE1):c.1913A>G (p.Gln638Arg)
|
rs1554756030
|
|
|
NM_182961.4(SYNE1):c.19141C>A (p.Gln6381Lys)
|
|
|
|
NM_182961.4(SYNE1):c.19155T>C (p.Asp6385=)
|
rs2153623542
|
|
|
NM_182961.4(SYNE1):c.19158A>C (p.Gly6386=)
|
|
|
|
NM_182961.4(SYNE1):c.19163C>T (p.Ser6388Leu)
|
|
|
|
NM_182961.4(SYNE1):c.19166C>G (p.Ala6389Gly)
|
|
|
|
NM_182961.4(SYNE1):c.19170C>G (p.Thr6390=)
|
|
|
|
NM_182961.4(SYNE1):c.19176T>G (p.Thr6392=)
|
rs2153623427
|
|
|
NM_182961.4(SYNE1):c.19182G>A (p.Leu6394=)
|
rs2090636581
|
|
|
NM_182961.4(SYNE1):c.19193A>C (p.Glu6398Ala)
|
|
|
|
NM_182961.4(SYNE1):c.19203A>T (p.Leu6401Phe)
|
rs966960053
|
|
|
NM_182961.4(SYNE1):c.19214C>T (p.Thr6405Ile)
|
rs2153623229
|
|
|
NM_182961.4(SYNE1):c.19218A>C (p.Ala6406=)
|
rs199869602
|
|
|
NM_182961.4(SYNE1):c.19260+10G>A
|
|
|
|
NM_182961.4(SYNE1):c.19260+1G>C
|
|
|
|
NM_182961.4(SYNE1):c.19260+1G>T
|
|
|
|
NM_182961.4(SYNE1):c.19260+20C>T
|
|
|
|
NM_182961.4(SYNE1):c.19260+2T>C
|
rs1588855714
|
|
|
NM_182961.4(SYNE1):c.19260+3A>G
|
|
|
|
NM_182961.4(SYNE1):c.19261-19G>T
|
|
|
|
NM_182961.4(SYNE1):c.19289C>G (p.Ser6430Cys)
|
|
|
|
NM_182961.4(SYNE1):c.19293A>G (p.Glu6431=)
|
|
|
|
NM_182961.4(SYNE1):c.19300G>C (p.Asp6434His)
|
|
|
|
NM_182961.4(SYNE1):c.19305G>C (p.Lys6435Asn)
|
|
|
|
NM_182961.4(SYNE1):c.19306A>T (p.Asn6436Tyr)
|
rs996252466
|
|
|
NM_182961.4(SYNE1):c.19311A>T (p.Lys6437Asn)
|
rs2090468441
|
|
|
NM_182961.4(SYNE1):c.19316T>C (p.Leu6439Ser)
|
|
|
|
NM_182961.4(SYNE1):c.1932+17C>A
|
|
|
|
NM_182961.4(SYNE1):c.1932+19A>G
|
|
|
|
NM_182961.4(SYNE1):c.1932+9G>T
|
rs746181375
|
|
|
NM_182961.4(SYNE1):c.1933-6G>T
|
rs1451399398
|
|
|
NM_182961.4(SYNE1):c.1933-8T>C
|
rs2154267701
|
|
|
NM_182961.4(SYNE1):c.19335A>C (p.Pro6445=)
|
rs749079132
|
|
|
NM_182961.4(SYNE1):c.19345G>T (p.Asp6449Tyr)
|
rs1315831856
|
|
|
NM_182961.4(SYNE1):c.19365A>G (p.Glu6455=)
|
rs886044212
|
|
|
NM_182961.4(SYNE1):c.19373T>C (p.Leu6458Ser)
|
rs2153620062
|
|
|
NM_182961.4(SYNE1):c.19392G>T (p.Arg6464Ser)
|
|
|
|
NM_182961.4(SYNE1):c.19402C>G (p.Leu6468Val)
|
|
|
|
NM_182961.4(SYNE1):c.19410A>G (p.Ser6470=)
|
|
|
|
NM_182961.4(SYNE1):c.1941dup (p.Arg648fs)
|
rs775516009
|
|
|
NM_182961.4(SYNE1):c.19422A>G (p.Gln6474=)
|
|
|
|
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter)
|
rs1258745040
|
|
|
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
|
|
|
|
NM_182961.4(SYNE1):c.19433A>G (p.Gln6478Arg)
|
rs2153619732
|
|
|
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs)
|
rs2153619687
|
|
|
NM_182961.4(SYNE1):c.19446A>G (p.Arg6482=)
|
|
|
|
NM_182961.4(SYNE1):c.19459C>T (p.Leu6487=)
|
|
|
|
NM_182961.4(SYNE1):c.1945A>G (p.Asn649Asp)
|
|
|
|
NM_182961.4(SYNE1):c.19467C>T (p.Phe6489=)
|
rs919585920
|
|
|
NM_182961.4(SYNE1):c.19470+13T>A
|
|
|
|
NM_182961.4(SYNE1):c.19470+14T>C
|
|
|
|
NM_182961.4(SYNE1):c.19470+14_19470+16del
|
|
|
|
NM_182961.4(SYNE1):c.19470+8A>G
|
|
|
|
NM_182961.4(SYNE1):c.19471-13C>T
|
rs1161750776
|
|
|
NM_182961.4(SYNE1):c.19488G>A (p.Leu6496=)
|
rs1393141949
|
|
|
NM_182961.4(SYNE1):c.1948T>G (p.Leu650Val)
|
rs2154267666
|
|
|
NM_182961.4(SYNE1):c.19496C>T (p.Ser6499Leu)
|
rs779049973
|
|
|
NM_182961.4(SYNE1):c.194C>T (p.Ala65Val)
|
|
|
|
NM_182961.4(SYNE1):c.19572+15C>T
|
|
|
|
NM_182961.4(SYNE1):c.19572+6T>G
|
|
|
|
NM_182961.4(SYNE1):c.19577T>C (p.Ile6526Thr)
|
rs2086639076
|
|
|
NM_182961.4(SYNE1):c.19580A>T (p.Gln6527Leu)
|
|
|
|
NM_182961.4(SYNE1):c.19584G>A (p.Gln6528=)
|
|
|
|
NM_182961.4(SYNE1):c.19588G>A (p.Glu6530Lys)
|
rs2086635846
|
|
|
NM_182961.4(SYNE1):c.19622T>C (p.Ile6541Thr)
|
|
|
|
NM_182961.4(SYNE1):c.19624G>A (p.Glu6542Lys)
|
rs1290381941
|
|
|
NM_182961.4(SYNE1):c.19627T>C (p.Leu6543=)
|
|
|
|
NM_182961.4(SYNE1):c.19635G>C (p.Arg6545Ser)
|
rs147143947
|
|
|
NM_182961.4(SYNE1):c.19656C>T (p.Val6552=)
|
rs773211579
|
|
|
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
|
|
|
|
NM_182961.4(SYNE1):c.19665G>A (p.Pro6555=)
|
|
|
|
NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter)
|
rs2086610889
|
|
|
NM_182961.4(SYNE1):c.19680C>G (p.Leu6560=)
|
|
|
|
NM_182961.4(SYNE1):c.19686G>A (p.Lys6562=)
|
rs1562462293
|
|
|
NM_182961.4(SYNE1):c.19692+7C>G
|
|
|
|
NM_182961.4(SYNE1):c.19693-19T>C
|
|
|
|
NM_182961.4(SYNE1):c.19693-20T>C
|
rs2153563935
|
|
|
NM_182961.4(SYNE1):c.19720A>G (p.Ile6574Val)
|
|
|
|
NM_182961.4(SYNE1):c.19779G>A (p.Arg6593=)
|
|
|
|
NM_182961.4(SYNE1):c.19787A>G (p.Gln6596Arg)
|
rs2085923878
|
|
|
NM_182961.4(SYNE1):c.19812T>C (p.Thr6604=)
|
|
|
|
NM_182961.4(SYNE1):c.19815T>C (p.Gly6605=)
|
rs776418227
|
|
|
NM_182961.4(SYNE1):c.19826T>C (p.Met6609Thr)
|
rs769943207
|
|
|
NM_182961.4(SYNE1):c.19853C>T (p.Ser6618Phe)
|
|
|
|
NM_182961.4(SYNE1):c.19863G>A (p.Glu6621=)
|
rs2153563113
|
|
|
NM_182961.4(SYNE1):c.1986T>C (p.Asp662=)
|
rs754185293
|
|
|
NM_182961.4(SYNE1):c.19893+18G>T
|
rs1306460593
|
|
|
NM_182961.4(SYNE1):c.19893+5A>G
|
rs374102244
|
|
|
NM_182961.4(SYNE1):c.19893+6T>C
|
rs377413112
|
|
|
NM_182961.4(SYNE1):c.19894-17T>A
|
rs542545053
|
|
|
NM_182961.4(SYNE1):c.19894-17T>C
|
|
|
|
NM_182961.4(SYNE1):c.19894-20T>C
|
|
|
|
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)
|
rs1057520134
|
|
|
NM_182961.4(SYNE1):c.19914A>G (p.Glu6638=)
|
|
|
|
NM_182961.4(SYNE1):c.19918C>T (p.His6640Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.19951A>C (p.Ile6651Leu)
|
|
|
|
NM_182961.4(SYNE1):c.19968C>A (p.Val6656=)
|
|
|
|
NM_182961.4(SYNE1):c.19980_19981delinsAA (p.Gln6661Lys)
|
rs2153551621
|
|
|
NM_182961.4(SYNE1):c.19987C>T (p.His6663Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.19996C>T (p.Leu6666=)
|
|
|
|
NM_182961.4(SYNE1):c.20000T>C (p.Met6667Thr)
|
rs2085071185
|
|
|
NM_182961.4(SYNE1):c.20002G>T (p.Ala6668Ser)
|
rs770873356
|
|
|
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)
|
rs1385280819
|
|
|
NM_182961.4(SYNE1):c.20008G>A (p.Ala6670Thr)
|
|
|
|
NM_182961.4(SYNE1):c.20017G>T (p.Val6673Leu)
|
rs578055399
|
|
|
NM_182961.4(SYNE1):c.20029G>T (p.Ala6677Ser)
|
rs1376604930
|
|
|
NM_182961.4(SYNE1):c.2004T>A (p.Ile668=)
|
|
|
|
NM_182961.4(SYNE1):c.20067+18A>C
|
rs186247729
|
|
|
NM_182961.4(SYNE1):c.20067+18A>G
|
|
|
|
NM_182961.4(SYNE1):c.20067+18A>T
|
|
|
|
NM_182961.4(SYNE1):c.20068-13G>A
|
|
|
|
NM_182961.4(SYNE1):c.20070G>A (p.Thr6690=)
|
rs141263831
|
|
|
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter)
|
rs766499430
|
|
|
NM_182961.4(SYNE1):c.20082G>A (p.Leu6694=)
|
|
|
|
NM_182961.4(SYNE1):c.20092C>A (p.Gln6698Lys)
|
|
|
|
NM_182961.4(SYNE1):c.20104A>G (p.Ser6702Gly)
|
rs2084228622
|
|
|
NM_182961.4(SYNE1):c.20111A>T (p.Gln6704Leu)
|
rs1189558235
|
|
|
NM_182961.4(SYNE1):c.20122G>C (p.Val6708Leu)
|
rs765132195
|
|
|
NM_182961.4(SYNE1):c.20136C>G (p.Ile6712Met)
|
rs761906590
|
|
|
NM_182961.4(SYNE1):c.20136C>T (p.Ile6712=)
|
|
|
|
NM_182961.4(SYNE1):c.20157G>C (p.Glu6719Asp)
|
rs769305344
|
|
|
NM_182961.4(SYNE1):c.20162A>G (p.Asn6721Ser)
|
|
|
|
NM_182961.4(SYNE1):c.20178T>A (p.Ile6726=)
|
rs1588441873
|
|
|
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs)
|
rs2153537904
|
|
|
NM_182961.4(SYNE1):c.20190A>G (p.Thr6730=)
|
rs1244012304
|
|
|
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
|
|
|
|
NM_182961.4(SYNE1):c.20199+17G>T
|
|
|
|
NM_182961.4(SYNE1):c.20199+18C>A
|
|
|
|
NM_182961.4(SYNE1):c.20200-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.20208A>G (p.Lys6736=)
|
rs1020385567
|
|
|
NM_182961.4(SYNE1):c.20230C>T (p.Pro6744Ser)
|
|
|
|
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
|
|
|
|
NM_182961.4(SYNE1):c.20315T>G (p.Leu6772Arg)
|
|
|
|
NM_182961.4(SYNE1):c.20346A>G (p.Lys6782=)
|
|
|
|
NM_182961.4(SYNE1):c.20362C>A (p.His6788Asn)
|
rs949257779
|
|
|
NM_182961.4(SYNE1):c.20364C>A (p.His6788Gln)
|
|
|
|
NM_182961.4(SYNE1):c.2037G>A (p.Leu679=)
|
rs1593222147
|
|
|
NM_182961.4(SYNE1):c.20395A>G (p.Arg6799Gly)
|
rs2153534806
|
|
|
NM_182961.4(SYNE1):c.20396+18T>C
|
rs2153534765
|
|
|
NM_182961.4(SYNE1):c.20397-11A>G
|
|
|
|
NM_182961.4(SYNE1):c.20397-16A>C
|
|
|
|
NM_182961.4(SYNE1):c.20397-16A>G
|
|
|
|
NM_182961.4(SYNE1):c.20401C>G (p.Gln6801Glu)
|
|
|
|
NM_182961.4(SYNE1):c.20419C>G (p.Leu6807Val)
|
rs2083603543
|
|
|
NM_182961.4(SYNE1):c.20419C>T (p.Leu6807=)
|
|
|
|
NM_182961.4(SYNE1):c.20436del (p.Gln6812fs)
|
|
|
|
NM_182961.4(SYNE1):c.20441C>T (p.Ala6814Val)
|
rs1562385964
|
|
|
NM_182961.4(SYNE1):c.20450G>A (p.Arg6817Gln)
|
|
|
|
NM_182961.4(SYNE1):c.20460T>C (p.Phe6820=)
|
|
|
|
NM_182961.4(SYNE1):c.20506C>T (p.Arg6836Cys)
|
|
|
|
NM_182961.4(SYNE1):c.20507G>A (p.Arg6836His)
|
|
|
|
NM_182961.4(SYNE1):c.20514T>C (p.His6838=)
|
rs2153528771
|
|
|
NM_182961.4(SYNE1):c.20529+7C>A
|
|
|
|
NM_182961.4(SYNE1):c.20530-16T>A
|
rs2083385032
|
|
|
NM_182961.4(SYNE1):c.20530-19A>G
|
|
|
|
NM_182961.4(SYNE1):c.20530-9T>A
|
rs2153525429
|
|
|
NM_182961.4(SYNE1):c.20580G>A (p.Leu6860=)
|
rs188203038
|
|
|
NM_182961.4(SYNE1):c.20580G>C (p.Leu6860=)
|
|
|
|
NM_182961.4(SYNE1):c.20586T>C (p.Thr6862=)
|
rs2083373670
|
|
|
NM_182961.4(SYNE1):c.20603G>A (p.Arg6868Gln)
|
rs757835316
|
|
|
NM_182961.4(SYNE1):c.20614G>T (p.Val6872Leu)
|
|
|
|
NM_182961.4(SYNE1):c.20619C>T (p.Asp6873=)
|
|
|
|
NM_182961.4(SYNE1):c.20629C>T (p.Leu6877=)
|
|
|
|
NM_182961.4(SYNE1):c.20636C>T (p.Ser6879Phe)
|
rs769820392
|
|
|
NM_182961.4(SYNE1):c.20645C>G (p.Ser6882Trp)
|
|
|
|
NM_182961.4(SYNE1):c.20648G>A (p.Arg6883His)
|
rs758105121
|
|
|
NM_182961.4(SYNE1):c.20648G>T (p.Arg6883Leu)
|
|
|
|
NM_182961.4(SYNE1):c.20658C>G (p.Ser6886Arg)
|
|
|
|
NM_182961.4(SYNE1):c.20666C>G (p.Thr6889Ser)
|
rs2083351978
|
|
|
NM_182961.4(SYNE1):c.2067G>A (p.Arg689=)
|
rs2154267528
|
|
|
NM_182961.4(SYNE1):c.20687C>T (p.Pro6896Leu)
|
|
|
|
NM_182961.4(SYNE1):c.20690C>T (p.Ala6897Val)
|
rs369855513
|
|
|
NM_182961.4(SYNE1):c.20692G>T (p.Val6898Phe)
|
|
|
|
NM_182961.4(SYNE1):c.20712G>T (p.Gln6904His)
|
|
|
|
NM_182961.4(SYNE1):c.20733T>C (p.Pro6911=)
|
rs2082942186
|
|
|
NM_182961.4(SYNE1):c.20746A>G (p.Ile6916Val)
|
|
|
|
NM_182961.4(SYNE1):c.20757C>T (p.Val6919=)
|
|
|
|
NM_182961.4(SYNE1):c.20773C>G (p.Leu6925Val)
|
|
|
|
NM_182961.4(SYNE1):c.20795A>C (p.Lys6932Thr)
|
|
|
|
NM_182961.4(SYNE1):c.20796G>A (p.Lys6932=)
|
|
|
|
NM_182961.4(SYNE1):c.20817T>A (p.Asn6939Lys)
|
|
|
|
NM_182961.4(SYNE1):c.20818T>G (p.Ser6940Ala)
|
|
|
|
NM_182961.4(SYNE1):c.20829C>T (p.Tyr6943=)
|
rs1327298373
|
|
|
NM_182961.4(SYNE1):c.20843A>G (p.Glu6948Gly)
|
rs886044105
|
|
|
NM_182961.4(SYNE1):c.20851C>G (p.Gln6951Glu)
|
rs2153517122
|
|
|
NM_182961.4(SYNE1):c.20862+3A>C
|
|
|
|
NM_182961.4(SYNE1):c.20862+5T>A
|
|
|
|
NM_182961.4(SYNE1):c.20863-12dup
|
|
|
|
NM_182961.4(SYNE1):c.20863-3dup
|
rs755011653
|
|
|
NM_182961.4(SYNE1):c.20863-7T>G
|
|
|
|
NM_182961.4(SYNE1):c.20875G>A (p.Asp6959Asn)
|
rs778417284
|
|
|
NM_182961.4(SYNE1):c.20900T>C (p.Val6967Ala)
|
|
|
|
NM_182961.4(SYNE1):c.20919C>T (p.Ser6973=)
|
|
|
|
NM_182961.4(SYNE1):c.20928A>C (p.Gln6976His)
|
rs763904392
|
|
|
NM_182961.4(SYNE1):c.20941G>T (p.Asp6981Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.20956C>T (p.Arg6986Cys)
|
|
|
|
NM_182961.4(SYNE1):c.20961T>C (p.Ser6987=)
|
|
|
|
NM_182961.4(SYNE1):c.2097+20A>C
|
rs201761319
|
|
|
NM_182961.4(SYNE1):c.2097+20A>G
|
|
|
|
NM_182961.4(SYNE1):c.20975T>A (p.Phe6992Tyr)
|
rs2082727720
|
|
|
NM_182961.4(SYNE1):c.2098-13C>G
|
|
|
|
NM_182961.4(SYNE1):c.20985A>G (p.Gln6995=)
|
|
|
|
NM_182961.4(SYNE1):c.21005_21006delinsAG (p.Ser7002Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21007T>A (p.Trp7003Arg)
|
rs2082723314
|
|
|
NM_182961.4(SYNE1):c.21007T>C (p.Trp7003Arg)
|
rs2082723314
|
|
|
NM_182961.4(SYNE1):c.21011A>G (p.Gln7004Arg)
|
|
|
|
NM_182961.4(SYNE1):c.21039+12G>A
|
|
|
|
NM_182961.4(SYNE1):c.21039+17C>T
|
|
|
|
NM_182961.4(SYNE1):c.21039+8A>G
|
|
|
|
NM_182961.4(SYNE1):c.21040-6G>A
|
|
|
|
NM_182961.4(SYNE1):c.21040A>C (p.Ile7014Leu)
|
|
|
|
NM_182961.4(SYNE1):c.21042C>A (p.Ile7014=)
|
|
|
|
NM_182961.4(SYNE1):c.21048G>T (p.Leu7016=)
|
|
|
|
NM_182961.4(SYNE1):c.21058T>G (p.Leu7020Val)
|
|
|
|
NM_182961.4(SYNE1):c.21069T>A (p.Ser7023=)
|
|
|
|
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
|
|
|
|
NM_182961.4(SYNE1):c.21090T>G (p.Asn7030Lys)
|
rs758318901
|
|
|
NM_182961.4(SYNE1):c.210G>A (p.Leu70=)
|
|
|
|
NM_182961.4(SYNE1):c.21113T>C (p.Phe7038Ser)
|
rs2153509730
|
|
|
NM_182961.4(SYNE1):c.21131G>A (p.Arg7044Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21141A>G (p.Gln7047=)
|
|
|
|
NM_182961.4(SYNE1):c.21153T>C (p.Ile7051=)
|
rs886061200
|
|
|
NM_182961.4(SYNE1):c.2116A>T (p.Met706Leu)
|
rs2098742431
|
|
|
NM_182961.4(SYNE1):c.21179C>T (p.Ala7060Val)
|
|
|
|
NM_182961.4(SYNE1):c.21181C>T (p.Leu7061=)
|
|
|
|
NM_182961.4(SYNE1):c.21184A>C (p.Lys7062Gln)
|
rs771203839
|
|
|
NM_182961.4(SYNE1):c.21187G>C (p.Asp7063His)
|
rs1267961945
|
|
|
NM_182961.4(SYNE1):c.21193C>G (p.Gln7065Glu)
|
rs2153509038
|
|
|
NM_182961.4(SYNE1):c.21195+14G>C
|
rs2082553069
|
|
|
NM_182961.4(SYNE1):c.21195+17G>A
|
|
|
|
NM_182961.4(SYNE1):c.21221A>G (p.Lys7074Arg)
|
rs749981989
|
|
|
NM_182961.4(SYNE1):c.21235G>C (p.Glu7079Gln)
|
rs2081454702
|
|
|
NM_182961.4(SYNE1):c.2123G>A (p.Arg708Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21251A>G (p.Asn7084Ser)
|
|
|
|
NM_182961.4(SYNE1):c.21259G>T (p.Ala7087Ser)
|
rs1321824454
|
|
|
NM_182961.4(SYNE1):c.21271A>T (p.Asn7091Tyr)
|
rs777618601
|
|
|
NM_182961.4(SYNE1):c.21279A>G (p.Lys7093=)
|
|
|
|
NM_182961.4(SYNE1):c.21286G>A (p.Val7096Ile)
|
|
|
|
NM_182961.4(SYNE1):c.21294C>G (p.Ser7098Arg)
|
rs2081442642
|
|
|
NM_182961.4(SYNE1):c.21317A>T (p.Glu7106Val)
|
rs2153485074
|
|
|
NM_182961.4(SYNE1):c.21351+14C>T
|
rs2081426061
|
|
|
NM_182961.4(SYNE1):c.21351+20G>A
|
|
|
|
NM_182961.4(SYNE1):c.21351+4A>G
|
rs2081431126
|
|
|
NM_182961.4(SYNE1):c.21352-20A>G
|
|
|
|
NM_182961.4(SYNE1):c.21352-7T>G
|
rs756684680
|
|
|
NM_182961.4(SYNE1):c.21370C>G (p.Leu7124Val)
|
|
|
|
NM_182961.4(SYNE1):c.21373C>T (p.Leu7125=)
|
|
|
|
NM_182961.4(SYNE1):c.21384G>A (p.Val7128=)
|
|
|
|
NM_182961.4(SYNE1):c.21388G>A (p.Asp7130Asn)
|
|
|
|
NM_182961.4(SYNE1):c.21405C>T (p.His7135=)
|
rs2153478766
|
|
|
NM_182961.4(SYNE1):c.21414C>G (p.Ala7138=)
|
rs144904215
|
|
|
NM_182961.4(SYNE1):c.21426A>G (p.Ile7142Met)
|
rs775691059
|
|
|
NM_182961.4(SYNE1):c.21435C>T (p.Tyr7145=)
|
|
|
|
NM_182961.4(SYNE1):c.21436C>T (p.Leu7146Phe)
|
rs776459203
|
|
|
NM_182961.4(SYNE1):c.21445G>A (p.Ala7149Thr)
|
|
|
|
NM_182961.4(SYNE1):c.21447C>T (p.Ala7149=)
|
|
|
|
NM_182961.4(SYNE1):c.21453C>T (p.Tyr7151=)
|
|
|
|
NM_182961.4(SYNE1):c.21462C>T (p.Ser7154=)
|
|
|
|
NM_182961.4(SYNE1):c.21464G>A (p.Arg7155Gln)
|
|
|
|
NM_182961.4(SYNE1):c.21468C>G (p.Phe7156Leu)
|
|
|
|
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr)
|
rs369355230
|
|
|
NM_182961.4(SYNE1):c.21501A>G (p.Gln7167=)
|
rs1427603497
|
|
|
NM_182961.4(SYNE1):c.21514A>G (p.Asn7172Asp)
|
rs886061199
|
|
|
NM_182961.4(SYNE1):c.21522+14T>C
|
|
|
|
NM_182961.4(SYNE1):c.21522+18C>T
|
rs1588175016
|
|
|
NM_182961.4(SYNE1):c.21522+6del
|
|
|
|
NM_182961.4(SYNE1):c.21522G>C (p.Gln7174His)
|
rs886061198
|
|
|
NM_182961.4(SYNE1):c.21523-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.21523-6G>C
|
rs774046000
|
|
|
NM_182961.4(SYNE1):c.21523-8del
|
|
|
|
NM_182961.4(SYNE1):c.21523-8dup
|
rs761577958
|
|
|
NM_182961.4(SYNE1):c.21586C>A (p.Gln7196Lys)
|
rs780059512
|
|
|
NM_182961.4(SYNE1):c.21594A>G (p.Leu7198=)
|
|
|
|
NM_182961.4(SYNE1):c.21602G>A (p.Cys7201Tyr)
|
rs794727041
|
|
|
NM_182961.4(SYNE1):c.21685G>A (p.Glu7229Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21694C>G (p.Gln7232Glu)
|
|
|
|
NM_182961.4(SYNE1):c.21711A>G (p.Leu7237=)
|
|
|
|
NM_182961.4(SYNE1):c.21717G>A (p.Gln7239=)
|
|
|
|
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter)
|
rs138032057
|
|
|
NM_182961.4(SYNE1):c.21783A>C (p.Arg7261=)
|
rs886061197
|
|
|
NM_182961.4(SYNE1):c.21793C>T (p.Leu7265=)
|
rs2153463509
|
|
|
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
|
|
|
|
NM_182961.4(SYNE1):c.2181C>G (p.Ala727=)
|
rs1593209190
|
|
|
NM_182961.4(SYNE1):c.21820A>T (p.Ile7274Phe)
|
rs775870306
|
|
|
NM_182961.4(SYNE1):c.21826G>A (p.Asp7276Asn)
|
|
|
|
NM_182961.4(SYNE1):c.21832G>A (p.Glu7278Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21843A>G (p.Thr7281=)
|
rs1562279050
|
|
|
NM_182961.4(SYNE1):c.21861+9A>G
|
|
|
|
NM_182961.4(SYNE1):c.2186A>G (p.Lys729Arg)
|
rs2098742034
|
|
|
NM_182961.4(SYNE1):c.21879G>A (p.Leu7293=)
|
rs749164483
|
|
|
NM_182961.4(SYNE1):c.21880G>A (p.Gly7294Ser)
|
|
|
|
NM_182961.4(SYNE1):c.21881G>A (p.Gly7294Asp)
|
rs1377401737
|
|
|
NM_182961.4(SYNE1):c.218A>C (p.Gln73Pro)
|
rs2154353751
|
|
|
NM_182961.4(SYNE1):c.21909C>G (p.Leu7303=)
|
|
|
|
NM_182961.4(SYNE1):c.21911A>G (p.His7304Arg)
|
rs557878312
|
|
|
NM_182961.4(SYNE1):c.21934C>T (p.Gln7312Ter)
|
rs886042421
|
|
|
NM_182961.4(SYNE1):c.21936A>T (p.Gln7312His)
|
rs968163245
|
|
|
NM_182961.4(SYNE1):c.21952G>T (p.Ala7318Ser)
|
|
|
|
NM_182961.4(SYNE1):c.21961G>A (p.Ala7321Thr)
|
|
|
|
NM_182961.4(SYNE1):c.21964A>G (p.Ile7322Val)
|
|
|
|
NM_182961.4(SYNE1):c.21972G>A (p.Ser7324=)
|
|
|
|
NM_182961.4(SYNE1):c.21977A>T (p.Gln7326Leu)
|
|
|
|
NM_182961.4(SYNE1):c.21978A>C (p.Gln7326His)
|
|
|
|
NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His)
|
rs756758310
|
|
|
NM_182961.4(SYNE1):c.21981C>G (p.Leu7327=)
|
rs148868250
|
|
|
NM_182961.4(SYNE1):c.21981C>T (p.Leu7327=)
|
rs148868250
|
|
|
NM_182961.4(SYNE1):c.21984T>A (p.Ser7328=)
|
rs779374633
|
|
|
NM_182961.4(SYNE1):c.21986T>C (p.Leu7329Ser)
|
rs2079440770
|
|
|
NM_182961.4(SYNE1):c.21989G>T (p.Ser7330Ile)
|
rs1588081530
|
|
|
NM_182961.4(SYNE1):c.22009G>C (p.Glu7337Gln)
|
|
|
|
NM_182961.4(SYNE1):c.2201C>G (p.Pro734Arg)
|
rs886061215
|
|
|
NM_182961.4(SYNE1):c.22023C>T (p.Cys7341=)
|
|
|
|
NM_182961.4(SYNE1):c.22035T>C (p.Thr7345=)
|
|
|
|
NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu)
|
rs2079430530
|
|
|
NM_182961.4(SYNE1):c.22043A>G (p.Gln7348Arg)
|
|
|
|
NM_182961.4(SYNE1):c.22044+14A>G
|
|
|
|
NM_182961.4(SYNE1):c.22044+1G>A
|
rs1372915935
|
|
|
NM_182961.4(SYNE1):c.22044+8G>T
|
|
|
|
NM_182961.4(SYNE1):c.22044+9C>T
|
rs774609945
|
|
|
NM_182961.4(SYNE1):c.22045-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.2204T>C (p.Leu735Ser)
|
|
|
|
NM_182961.4(SYNE1):c.22054C>A (p.Leu7352Ile)
|
rs1199232781
|
|
|
NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His)
|
rs944485518
|
|
|
NM_182961.4(SYNE1):c.22066A>G (p.Thr7356Ala)
|
|
|
|
NM_182961.4(SYNE1):c.22073C>T (p.Ala7358Val)
|
|
|
|
NM_182961.4(SYNE1):c.2209G>A (p.Val737Ile)
|
rs2154266865
|
|
|
NM_182961.4(SYNE1):c.2209G>T (p.Val737Phe)
|
|
|
|
NM_182961.4(SYNE1):c.22106T>C (p.Val7369Ala)
|
|
|
|
NM_182961.4(SYNE1):c.22118A>T (p.Glu7373Val)
|
rs1588067419
|
|
|
NM_182961.4(SYNE1):c.22128A>G (p.Gln7376=)
|
|
|
|
NM_182961.4(SYNE1):c.22131G>A (p.Gly7377=)
|
rs1419205712
|
|
|
NM_182961.4(SYNE1):c.22135G>A (p.Asp7379Asn)
|
|
|
|
NM_182961.4(SYNE1):c.2214T>C (p.Ser738=)
|
|
|
|
NM_182961.4(SYNE1):c.22153G>A (p.Asp7385Asn)
|
rs886043280
|
|
|
NM_182961.4(SYNE1):c.22154A>T (p.Asp7385Val)
|
rs2153454164
|
|
|
NM_182961.4(SYNE1):c.22191+15A>T
|
|
|
|
NM_182961.4(SYNE1):c.22191+20A>T
|
|
|
|
NM_182961.4(SYNE1):c.22191+4A>G
|
rs2153454005
|
|
|
NM_182961.4(SYNE1):c.22191+7G>A
|
|
|
|
NM_182961.4(SYNE1):c.22191+7G>T
|
|
|
|
NM_182961.4(SYNE1):c.22192-14A>G
|
|
|
|
NM_182961.4(SYNE1):c.22194A>T (p.Gly7398=)
|
|
|
|
NM_182961.4(SYNE1):c.22200G>A (p.Met7400Ile)
|
|
|
|
NM_182961.4(SYNE1):c.22214G>T (p.Ser7405Ile)
|
rs778036632
|
|
|
NM_182961.4(SYNE1):c.22215C>T (p.Ser7405=)
|
rs560939744
|
|
|
NM_182961.4(SYNE1):c.22227T>C (p.Asp7409=)
|
|
|
|
NM_182961.4(SYNE1):c.22241A>G (p.Asn7414Ser)
|
rs760439015
|
|
|
NM_182961.4(SYNE1):c.22245G>T (p.Glu7415Asp)
|
rs767375107
|
|
|
NM_182961.4(SYNE1):c.22253A>G (p.Tyr7418Cys)
|
rs554483231
|
|
|
NM_182961.4(SYNE1):c.2230C>T (p.Leu744=)
|
|
|
|
NM_182961.4(SYNE1):c.22320CTC[1] (p.Ser7442del)
|
rs756712103
|
|
|
NM_182961.4(SYNE1):c.22346+12A>C
|
|
|
|
NM_182961.4(SYNE1):c.22346+6G>A
|
|
|
|
NM_182961.4(SYNE1):c.22346+7T>A
|
|
|
|
NM_182961.4(SYNE1):c.22347-10G>T
|
|
|
|
NM_182961.4(SYNE1):c.22347-13T>C
|
|
|
|
NM_182961.4(SYNE1):c.22347-20C>T
|
|
|
|
NM_182961.4(SYNE1):c.22347-6T>G
|
rs886044017
|
|
|
NM_182961.4(SYNE1):c.22347-9T>A
|
rs535951024
|
|
|
NM_182961.4(SYNE1):c.22356G>A (p.Gln7452=)
|
|
|
|
NM_182961.4(SYNE1):c.22362T>A (p.Phe7454Leu)
|
rs371289584
|
|
|
NM_182961.4(SYNE1):c.22377G>T (p.Gln7459His)
|
|
|
|
NM_182961.4(SYNE1):c.22433A>C (p.Lys7478Thr)
|
|
|
|
NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly)
|
rs1587952687
|
|
|
NM_182961.4(SYNE1):c.22476A>G (p.Glu7492=)
|
|
|
|
NM_182961.4(SYNE1):c.22479G>T (p.Gln7493His)
|
|
|
|
NM_182961.4(SYNE1):c.22485A>G (p.Arg7495=)
|
|
|
|
NM_182961.4(SYNE1):c.22491C>G (p.His7497Gln)
|
|
|
|
NM_182961.4(SYNE1):c.22494+10A>G
|
|
|
|
NM_182961.4(SYNE1):c.22494+19T>A
|
|
|
|
NM_182961.4(SYNE1):c.22494+4A>G
|
|
|
|
NM_182961.4(SYNE1):c.22494+7del
|
|
|
|
NM_182961.4(SYNE1):c.22494G>A (p.Glu7498=)
|
|
|
|
NM_182961.4(SYNE1):c.22495-10dup
|
rs767966157
|
|
|
NM_182961.4(SYNE1):c.22495-18_22495-16del
|
rs1438172102
|
|
|
NM_182961.4(SYNE1):c.225+14dup
|
|
|
|
NM_182961.4(SYNE1):c.225+16T>C
|
|
|
|
NM_182961.4(SYNE1):c.225+16T>G
|
|
|
|
NM_182961.4(SYNE1):c.225+1del
|
rs2154353746
|
|
|
NM_182961.4(SYNE1):c.225+5G>C
|
rs1594697066
|
|
|
NM_182961.4(SYNE1):c.2250+14G>T
|
|
|
|
NM_182961.4(SYNE1):c.2250+8del
|
|
|
|
NM_182961.4(SYNE1):c.22503A>G (p.Gln7501=)
|
|
|
|
NM_182961.4(SYNE1):c.2251-15C>T
|
rs758553708
|
|
|
NM_182961.4(SYNE1):c.22515C>T (p.Phe7505=)
|
|
|
|
NM_182961.4(SYNE1):c.22536C>T (p.His7512=)
|
|
|
|
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val)
|
rs963496863
|
|
|
NM_182961.4(SYNE1):c.22551T>C (p.Asp7517=)
|
|
|
|
NM_182961.4(SYNE1):c.22561C>A (p.Leu7521Ile)
|
|
|
|
NM_182961.4(SYNE1):c.22579G>A (p.Val7527Ile)
|
rs1554568810
|
|
|
NM_182961.4(SYNE1):c.22582G>A (p.Asp7528Asn)
|
|
|
|
NM_182961.4(SYNE1):c.22589+4G>A
|
|
|
|
NM_182961.4(SYNE1):c.22589+4G>T
|
rs563408259
|
|
|
NM_182961.4(SYNE1):c.22590-1G>A
|
rs2153409815
|
|
|
NM_182961.4(SYNE1):c.22590-3T>C
|
rs1400330082
|
|
|
NM_182961.4(SYNE1):c.22590-5A>G
|
|
|
|
NM_182961.4(SYNE1):c.22592A>T (p.Asp7531Val)
|
rs2153409793
|
|
|
NM_182961.4(SYNE1):c.226-12C>T
|
|
|
|
NM_182961.4(SYNE1):c.226-7T>G
|
|
|
|
NM_182961.4(SYNE1):c.22664G>A (p.Arg7555Gln)
|
|
|
|
NM_182961.4(SYNE1):c.22669A>T (p.Ile7557Phe)
|
rs760818352
|
|
|
NM_182961.4(SYNE1):c.22673T>C (p.Ile7558Thr)
|
|
|
|
NM_182961.4(SYNE1):c.22688G>A (p.Arg7563His)
|
rs768489386
|
|
|
NM_182961.4(SYNE1):c.226C>G (p.Pro76Ala)
|
rs775028308
|
|
|
NM_182961.4(SYNE1):c.22726C>T (p.Arg7576Cys)
|
|
|
|
NM_182961.4(SYNE1):c.22727G>A (p.Arg7576His)
|
|
|
|
NM_182961.4(SYNE1):c.22749C>G (p.Ser7583=)
|
|
|
|
NM_182961.4(SYNE1):c.22764T>C (p.Ser7588=)
|
rs2153408930
|
|
|
NM_182961.4(SYNE1):c.22777G>T (p.Val7593Phe)
|
rs2076839550
|
|
|
NM_182961.4(SYNE1):c.22790T>G (p.Leu7597Arg)
|
rs2153408771
|
|
|
NM_182961.4(SYNE1):c.22792C>G (p.Gln7598Glu)
|
|
|
|
NM_182961.4(SYNE1):c.22806C>T (p.Thr7602=)
|
|
|
|
NM_182961.4(SYNE1):c.22814A>G (p.Asp7605Gly)
|
rs2153408610
|
|
|
NM_182961.4(SYNE1):c.22824+13_22824+15del
|
|
|
|
NM_182961.4(SYNE1):c.22824+17A>G
|
|
|
|
NM_182961.4(SYNE1):c.22824+2T>A
|
|
|
|
NM_182961.4(SYNE1):c.22824+9C>T
|
|
|
|
NM_182961.4(SYNE1):c.22825-3C>A
|
rs2153398590
|
|
|
NM_182961.4(SYNE1):c.22825-8C>A
|
|
|
|
NM_182961.4(SYNE1):c.22836A>G (p.Lys7612=)
|
|
|
|
NM_182961.4(SYNE1):c.22839G>A (p.Val7613=)
|
rs1048202250
|
|
|
NM_182961.4(SYNE1):c.22842T>C (p.Phe7614=)
|
rs2076502631
|
|
|
NM_182961.4(SYNE1):c.22856G>A (p.Gly7619Asp)
|
rs2153398375
|
|
|
NM_182961.4(SYNE1):c.22863C>T (p.Tyr7621=)
|
|
|
|
NM_182961.4(SYNE1):c.22872T>C (p.Thr7624=)
|
|
|
|
NM_182961.4(SYNE1):c.22873G>A (p.Val7625Met)
|
rs749743156
|
|
|
NM_182961.4(SYNE1):c.22874T>G (p.Val7625Gly)
|
|
|
|
NM_182961.4(SYNE1):c.22878G>A (p.Glu7626=)
|
|
|
|
NM_182961.4(SYNE1):c.22879G>T (p.Ala7627Ser)
|
rs2153398279
|
|
|
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del)
|
rs1360697609
|
|
|
NM_182961.4(SYNE1):c.22904C>T (p.Ala7635Val)
|
rs555792275
|
|
|
NM_182961.4(SYNE1):c.22924G>A (p.Ala7642Thr)
|
rs776115026
|
|
|
NM_182961.4(SYNE1):c.22927T>G (p.Leu7643Val)
|
|
|
|
NM_182961.4(SYNE1):c.2292G>A (p.Lys764=)
|
|
|
|
NM_182961.4(SYNE1):c.22936G>A (p.Glu7646Lys)
|
|
|
|
NM_182961.4(SYNE1):c.22952A>G (p.Gln7651Arg)
|
rs993798442
|
|
|
NM_182961.4(SYNE1):c.2296A>G (p.Ile766Val)
|
|
|
|
NM_182961.4(SYNE1):c.2297T>C (p.Ile766Thr)
|
rs886061214
|
|
|
NM_182961.4(SYNE1):c.23007C>T (p.Ala7669=)
|
|
|
|
NM_182961.4(SYNE1):c.23020-7A>G
|
|
|
|
NM_182961.4(SYNE1):c.23020-9C>G
|
|
|
|
NM_182961.4(SYNE1):c.23046A>G (p.Ile7682Met)
|
rs772452257
|
|
|
NM_182961.4(SYNE1):c.23047G>A (p.Ala7683Thr)
|
rs1161832578
|
|
|
NM_182961.4(SYNE1):c.23052T>G (p.Asp7684Glu)
|
rs1201437684
|
|
|
NM_182961.4(SYNE1):c.23059G>C (p.Glu7687Gln)
|
rs768705708
|
|
|
NM_182961.4(SYNE1):c.23068C>T (p.Arg7690Ter)
|
rs749432519
|
|
|
NM_182961.4(SYNE1):c.23076C>T (p.Phe7692=)
|
|
|
|
NM_182961.4(SYNE1):c.2308G>A (p.Ala770Thr)
|
rs767407271
|
|
|
NM_182961.4(SYNE1):c.23091G>A (p.Ser7697=)
|
|
|
|
NM_182961.4(SYNE1):c.23093A>G (p.Gln7698Arg)
|
rs1452755990
|
|
|
NM_182961.4(SYNE1):c.23131C>A (p.Gln7711Lys)
|
|
|
|
NM_182961.4(SYNE1):c.23139T>C (p.Arg7713=)
|
rs899533876
|
|
|
NM_182961.4(SYNE1):c.23141G>A (p.Cys7714Tyr)
|
rs886061195
|
|
|
NM_182961.4(SYNE1):c.23145+10T>C
|
|
|
|
NM_182961.4(SYNE1):c.23146-10T>C
|
rs2153229720
|
|
|
NM_182961.4(SYNE1):c.23146-1G>A
|
|
|
|
NM_182961.4(SYNE1):c.23146-7T>C
|
|
|
|
NM_182961.4(SYNE1):c.23146-7del
|
rs770820426
|
|
|
NM_182961.4(SYNE1):c.23146-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.23170T>C (p.Trp7724Arg)
|
|
|
|
NM_182961.4(SYNE1):c.23196C>G (p.Ser7732Arg)
|
rs1554518143
|
|
|
NM_182961.4(SYNE1):c.23211C>T (p.Thr7737=)
|
|
|
|
NM_182961.4(SYNE1):c.23214C>A (p.Leu7738=)
|
rs543882781
|
|
|
NM_182961.4(SYNE1):c.23222A>C (p.Tyr7741Ser)
|
|
|
|
NM_182961.4(SYNE1):c.23222A>T (p.Tyr7741Phe)
|
|
|
|
NM_182961.4(SYNE1):c.23234A>G (p.Asp7745Gly)
|
|
|
|
NM_182961.4(SYNE1):c.23242T>A (p.Ser7748Thr)
|
rs2153229567
|
|
|
NM_182961.4(SYNE1):c.23245A>G (p.Ile7749Val)
|
|
|
|
NM_182961.4(SYNE1):c.23257C>T (p.Arg7753Cys)
|
rs138747167
|
|
|
NM_182961.4(SYNE1):c.23271G>T (p.Leu7757=)
|
|
|
|
NM_182961.4(SYNE1):c.23296C>T (p.His7766Tyr)
|
rs886043037
|
|
|
NM_182961.4(SYNE1):c.23301+13C>A
|
|
|
|
NM_182961.4(SYNE1):c.23301+13C>T
|
|
|
|
NM_182961.4(SYNE1):c.23301+1G>A
|
|
|
|
NM_182961.4(SYNE1):c.23301+20T>A
|
rs2153229361
|
|
|
NM_182961.4(SYNE1):c.23302-18C>T
|
rs2153180743
|
|
|
NM_182961.4(SYNE1):c.23302-4T>C
|
|
|
|
NM_182961.4(SYNE1):c.23302-5T>C
|
|
|
|
NM_182961.4(SYNE1):c.2330_2353dup (p.Glu784_Met785insSerProGlnGluGluGlyLysGlu)
|
|
|
|
NM_182961.4(SYNE1):c.23327G>A (p.Gly7776Asp)
|
|
|
|
NM_182961.4(SYNE1):c.23335T>G (p.Leu7779Val)
|
rs200800604
|
|
|
NM_182961.4(SYNE1):c.23367C>T (p.Asn7789=)
|
|
|
|
NM_182961.4(SYNE1):c.23374C>T (p.Leu7792Phe)
|
|
|
|
NM_182961.4(SYNE1):c.23378G>T (p.Cys7793Phe)
|
|
|
|
NM_182961.4(SYNE1):c.23407G>A (p.Val7803Ile)
|
|
|
|
NM_182961.4(SYNE1):c.23419G>A (p.Gly7807Arg)
|
rs2067600593
|
|
|
NM_182961.4(SYNE1):c.23425A>G (p.Ile7809Val)
|
|
|
|
NM_182961.4(SYNE1):c.23460+10G>C
|
|
|
|
NM_182961.4(SYNE1):c.23460+10G>T
|
rs376484866
|
|
|
NM_182961.4(SYNE1):c.23460+11C>G
|
|
|
|
NM_182961.4(SYNE1):c.23461-11T>G
|
|
|
|
NM_182961.4(SYNE1):c.23461-1G>A
|
rs1586909309
|
|
|
NM_182961.4(SYNE1):c.23470G>A (p.Glu7824Lys)
|
|
|
|
NM_182961.4(SYNE1):c.23547A>G (p.Glu7849=)
|
rs1057522829
|
|
|
NM_182961.4(SYNE1):c.23548A>T (p.Ser7850Cys)
|
rs2066481563
|
|
|
NM_182961.4(SYNE1):c.23550C>T (p.Ser7850=)
|
|
|
|
NM_182961.4(SYNE1):c.23562G>T (p.Glu7854Asp)
|
rs894257787
|
|
|
NM_182961.4(SYNE1):c.23577G>A (p.Leu7859=)
|
rs2153132926
|
|
|
NM_182961.4(SYNE1):c.2359G>A (p.Ala787Thr)
|
|
|
|
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys)
|
rs1593187196
|
|
|
NM_182961.4(SYNE1):c.2360C>T (p.Ala787Val)
|
rs147406318
|
|
|
NM_182961.4(SYNE1):c.23617A>C (p.Ile7873Leu)
|
|
|
|
NM_182961.4(SYNE1):c.23618T>C (p.Ile7873Thr)
|
rs1331488136
|
|
|
NM_182961.4(SYNE1):c.2361G>A (p.Ala787=)
|
|
|
|
NM_182961.4(SYNE1):c.23627+20A>G
|
|
|
|
NM_182961.4(SYNE1):c.23628-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.23628-16C>T
|
|
|
|
NM_182961.4(SYNE1):c.23628-17C>G
|
|
|
|
NM_182961.4(SYNE1):c.23628-1G>A
|
|
|
|
NM_182961.4(SYNE1):c.23635A>G (p.Lys7879Glu)
|
rs2153026780
|
|
|
NM_182961.4(SYNE1):c.23639T>C (p.Leu7880Pro)
|
|
|
|
NM_182961.4(SYNE1):c.23640G>A (p.Leu7880=)
|
|
|
|
NM_182961.4(SYNE1):c.23650C>T (p.Leu7884=)
|
rs1259207970
|
|
|
NM_182961.4(SYNE1):c.23658C>T (p.Ala7886=)
|
|
|
|
NM_182961.4(SYNE1):c.23666A>G (p.Gln7889Arg)
|
rs2063159798
|
|
|
NM_182961.4(SYNE1):c.2367G>C (p.Met789Ile)
|
|
|
|
NM_182961.4(SYNE1):c.23681T>C (p.Met7894Thr)
|
|
|
|
NM_182961.4(SYNE1):c.23685C>A (p.Ser7895Arg)
|
rs192734406
|
|
|
NM_182961.4(SYNE1):c.23692A>C (p.Arg7898=)
|
|
|
|
NM_182961.4(SYNE1):c.23694G>T (p.Arg7898Ser)
|
rs1028548586
|
|
|
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile)
|
rs757122298
|
|
|
NM_182961.4(SYNE1):c.23716T>G (p.Ser7906Ala)
|
rs2063146847
|
|
|
NM_182961.4(SYNE1):c.23717C>T (p.Ser7906Leu)
|
rs2153025842
|
|
|
NM_182961.4(SYNE1):c.23727C>G (p.Ala7909=)
|
rs200146485
|
|
|
NM_182961.4(SYNE1):c.23735T>C (p.Ile7912Thr)
|
rs2153025589
|
|
|
NM_182961.4(SYNE1):c.23738T>C (p.Val7913Ala)
|
rs746086003
|
|
|
NM_182961.4(SYNE1):c.23779A>C (p.Asn7927His)
|
rs2063133832
|
|
|
NM_182961.4(SYNE1):c.23790+11A>G
|
rs1462193161
|
|
|
NM_182961.4(SYNE1):c.23790+1G>A
|
rs2153025020
|
|
|
NM_182961.4(SYNE1):c.23790+9T>C
|
rs2153024919
|
|
|
NM_182961.4(SYNE1):c.23791-12G>A
|
rs754785678
|
|
|
NM_182961.4(SYNE1):c.23791-6C>G
|
|
|
|
NM_182961.4(SYNE1):c.23791-6del
|
rs757124573
|
|
|
NM_182961.4(SYNE1):c.23802A>G (p.Arg7934=)
|
|
|
|
NM_182961.4(SYNE1):c.23815C>T (p.His7939Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.23824G>A (p.Gly7942Ser)
|
|
|
|
NM_182961.4(SYNE1):c.23832A>G (p.Ala7944=)
|
rs886061194
|
|
|
NM_182961.4(SYNE1):c.23841C>G (p.Leu7947=)
|
rs760917529
|
|
|
NM_182961.4(SYNE1):c.23856C>G (p.Val7952=)
|
rs772056716
|
|
|
NM_182961.4(SYNE1):c.2385G>A (p.Gln795=)
|
|
|
|
NM_182961.4(SYNE1):c.23865C>T (p.His7955=)
|
|
|
|
NM_182961.4(SYNE1):c.23868C>T (p.Asp7956=)
|
|
|
|
NM_182961.4(SYNE1):c.23883C>T (p.Ala7961=)
|
|
|
|
NM_182961.4(SYNE1):c.23892C>T (p.Ala7964=)
|
|
|
|
NM_182961.4(SYNE1):c.23901C>T (p.Asp7967=)
|
|
|
|
NM_182961.4(SYNE1):c.23903C>G (p.Ser7968Cys)
|
rs1554441768
|
|
|
NM_182961.4(SYNE1):c.23905A>G (p.Ile7969Val)
|
rs766732148
|
|
|
NM_182961.4(SYNE1):c.23914G>A (p.Ala7972Thr)
|
rs1000667542
|
|
|
NM_182961.4(SYNE1):c.2391C>A (p.Thr797=)
|
rs201500601
|
|
|
NM_182961.4(SYNE1):c.23934G>C (p.Arg7978=)
|
|
|
|
NM_182961.4(SYNE1):c.2394+1G>A
|
|
|
|
NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg)
|
rs1586408465
|
|
|
NM_182961.4(SYNE1):c.23956A>G (p.Met7986Val)
|
|
|
|
NM_182961.4(SYNE1):c.23978+16G>T
|
|
|
|
NM_182961.4(SYNE1):c.23979-7G>A
|
rs376918337
|
|
|
NM_182961.4(SYNE1):c.23990C>T (p.Thr7997Met)
|
rs757366114
|
|
|
NM_182961.4(SYNE1):c.23999T>C (p.Leu8000Ser)
|
|
|
|
NM_182961.4(SYNE1):c.24000G>A (p.Leu8000=)
|
|
|
|
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
|
|
|
|
NM_182961.4(SYNE1):c.2404T>C (p.Cys802Arg)
|
rs2098714288
|
|
|
NM_182961.4(SYNE1):c.2405G>A (p.Cys802Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.24078C>T (p.Ser8026=)
|
rs2061111726
|
|
|
NM_182961.4(SYNE1):c.24097A>G (p.Thr8033Ala)
|
rs2061108490
|
|
|
NM_182961.4(SYNE1):c.2409C>T (p.Tyr803=)
|
|
|
|
NM_182961.4(SYNE1):c.24105C>T (p.Ala8035=)
|
rs2061106684
|
|
|
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=)
|
rs2061105872
|
|
|
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
|
|
|
|
NM_182961.4(SYNE1):c.24120G>C (p.Lys8040Asn)
|
rs2152941881
|
|
|
NM_182961.4(SYNE1):c.24122A>C (p.Lys8041Thr)
|
rs2152941858
|
|
|
NM_182961.4(SYNE1):c.24130-12C>G
|
|
|
|
NM_182961.4(SYNE1):c.24130-3T>C
|
|
|
|
NM_182961.4(SYNE1):c.24157C>T (p.Leu8053=)
|
rs2152920109
|
|
|
NM_182961.4(SYNE1):c.24160A>T (p.Thr8054Ser)
|
|
|
|
NM_182961.4(SYNE1):c.24174G>A (p.Leu8058=)
|
rs928170278
|
|
|
NM_182961.4(SYNE1):c.24183G>A (p.Lys8061=)
|
rs2152919904
|
|
|
NM_182961.4(SYNE1):c.24191G>T (p.Arg8064Leu)
|
|
|
|
NM_182961.4(SYNE1):c.24194G>A (p.Arg8065His)
|
rs201956180
|
|
|
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)
|
rs1586296730
|
|
|
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=)
|
rs910415
|
|
|
NM_182961.4(SYNE1):c.24225A>T (p.Ala8075=)
|
rs910415
|
|
|
NM_182961.4(SYNE1):c.24232C>G (p.Leu8078Val)
|
|
|
|
NM_182961.4(SYNE1):c.24249C>T (p.His8083=)
|
|
|
|
NM_182961.4(SYNE1):c.24252A>G (p.Glu8084=)
|
rs886061193
|
|
|
NM_182961.4(SYNE1):c.24263G>A (p.Arg8088Lys)
|
|
|
|
NM_182961.4(SYNE1):c.24274C>T (p.Leu8092=)
|
rs2152919136
|
|
|
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His)
|
rs119103246
|
|
|
NM_182961.4(SYNE1):c.24303C>T (p.Arg8101=)
|
|
|
|
NM_182961.4(SYNE1):c.24309C>T (p.Leu8103=)
|
|
|
|
NM_182961.4(SYNE1):c.24310A>G (p.Lys8104Glu)
|
rs1563054108
|
|
|
NM_182961.4(SYNE1):c.24313-12C>T
|
|
|
|
NM_182961.4(SYNE1):c.24328C>T (p.Arg8110Cys)
|
rs749473816
|
|
|
NM_182961.4(SYNE1):c.24344C>G (p.Thr8115Ser)
|
rs886061192
|
|
|
NM_182961.4(SYNE1):c.24366C>G (p.Val8122=)
|
rs764796963
|
|
|
NM_182961.4(SYNE1):c.2436G>C (p.Gln812His)
|
|
|
|
NM_182961.4(SYNE1):c.24373A>C (p.Thr8125Pro)
|
rs2152915749
|
|
|
NM_182961.4(SYNE1):c.24378G>A (p.Glu8126=)
|
rs754573881
|
|
|
NM_182961.4(SYNE1):c.24379A>T (p.Met8127Leu)
|
rs2060437692
|
|
|
NM_182961.4(SYNE1):c.24393C>T (p.Leu8131=)
|
|
|
|
NM_182961.4(SYNE1):c.243C>T (p.Arg81=)
|
|
|
|
NM_182961.4(SYNE1):c.24405A>G (p.Glu8135=)
|
rs2152915378
|
|
|
NM_182961.4(SYNE1):c.24433A>G (p.Lys8145Glu)
|
|
|
|
NM_182961.4(SYNE1):c.24441G>A (p.Lys8147=)
|
rs2060427405
|
|
|
NM_182961.4(SYNE1):c.24444A>G (p.Gln8148=)
|
rs2152914979
|
|
|
NM_182961.4(SYNE1):c.24450+15T>C
|
|
|
|
NM_182961.4(SYNE1):c.24450+8A>G
|
|
|
|
NM_182961.4(SYNE1):c.24451-20A>T
|
|
|
|
NM_182961.4(SYNE1):c.24462G>C (p.Gln8154His)
|
|
|
|
NM_182961.4(SYNE1):c.2446C>A (p.Pro816Thr)
|
rs2098714101
|
|
|
NM_182961.4(SYNE1):c.2447C>T (p.Pro816Leu)
|
|
|
|
NM_182961.4(SYNE1):c.24481A>G (p.Asn8161Asp)
|
rs36215251
|
|
|
NM_182961.4(SYNE1):c.24489T>A (p.Ile8163=)
|
|
|
|
NM_182961.4(SYNE1):c.24493C>A (p.Gln8165Lys)
|
|
|
|
NM_182961.4(SYNE1):c.24495G>A (p.Gln8165=)
|
rs760658485
|
|
|
NM_182961.4(SYNE1):c.24497T>C (p.Ile8166Thr)
|
rs201904925
|
|
|
NM_182961.4(SYNE1):c.24503C>A (p.Ala8168Asp)
|
rs1297857077
|
|
|
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
|
|
|
|
NM_182961.4(SYNE1):c.2454G>A (p.Glu818=)
|
rs2098714051
|
|
|
NM_182961.4(SYNE1):c.24551T>C (p.Ile8184Thr)
|
rs1344598258
|
|
|
NM_182961.4(SYNE1):c.24555C>G (p.Ile8185Met)
|
rs201799566
|
|
|
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
|
|
|
|
NM_182961.4(SYNE1):c.24597C>T (p.Val8199=)
|
|
|
|
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)
|
rs143900928
|
|
|
NM_182961.4(SYNE1):c.24643-14G>A
|
|
|
|
NM_182961.4(SYNE1):c.24643-20del
|
|
|
|
NM_182961.4(SYNE1):c.24643-7C>T
|
|
|
|
NM_182961.4(SYNE1):c.24664C>G (p.Leu8222Val)
|
rs2152881730
|
|
|
NM_182961.4(SYNE1):c.24673A>G (p.Arg8225Gly)
|
rs759109611
|
|
|
NM_182961.4(SYNE1):c.24675G>T (p.Arg8225Ser)
|
|
|
|
NM_182961.4(SYNE1):c.24679C>A (p.Leu8227Met)
|
|
|
|
NM_182961.4(SYNE1):c.24681G>A (p.Leu8227=)
|
|
|
|
NM_182961.4(SYNE1):c.24683A>G (p.Glu8228Gly)
|
|
|
|
NM_182961.4(SYNE1):c.24684G>A (p.Glu8228=)
|
|
|
|
NM_182961.4(SYNE1):c.24687G>A (p.Leu8229=)
|
rs1418252063
|
|
|
NM_182961.4(SYNE1):c.24694T>C (p.Ser8232Pro)
|
|
|
|
NM_182961.4(SYNE1):c.24707C>T (p.Ser8236Leu)
|
|
|
|
NM_182961.4(SYNE1):c.24708G>A (p.Ser8236=)
|
|
|
|
NM_182961.4(SYNE1):c.24709G>T (p.Asp8237Tyr)
|
rs2152881229
|
|
|
NM_182961.4(SYNE1):c.24723C>T (p.His8241=)
|
rs141586001
|
|
|
NM_182961.4(SYNE1):c.24757C>G (p.Pro8253Ala)
|
rs952705892
|
|
|
NM_182961.4(SYNE1):c.24776T>C (p.Leu8259Pro)
|
|
|
|
NM_182961.4(SYNE1):c.24777C>G (p.Leu8259=)
|
|
|
|
NM_182961.4(SYNE1):c.24780G>T (p.Ser8260=)
|
rs766320378
|
|
|
NM_182961.4(SYNE1):c.24805C>T (p.Arg8269Trp)
|
|
|
|
NM_182961.4(SYNE1):c.24806G>A (p.Arg8269Gln)
|
|
|
|
NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu)
|
rs148367376
|
|
|
NM_182961.4(SYNE1):c.24810A>G (p.Ser8270=)
|
|
|
|
NM_182961.4(SYNE1):c.24813A>G (p.Gly8271=)
|
|
|
|
NM_182961.4(SYNE1):c.24832G>A (p.Val8278Met)
|
rs200663180
|
|
|
NM_182961.4(SYNE1):c.24837C>G (p.Asp8279Glu)
|
|
|
|
NM_182961.4(SYNE1):c.24843C>A (p.Ile8281=)
|
|
|
|
NM_182961.4(SYNE1):c.24875G>A (p.Ser8292Asn)
|
rs754883031
|
|
|
NM_182961.4(SYNE1):c.24892G>A (p.Ala8298Thr)
|
|
|
|
NM_182961.4(SYNE1):c.24927A>G (p.Glu8309=)
|
|
|
|
NM_182961.4(SYNE1):c.24929G>A (p.Gly8310Asp)
|
rs1253089660
|
|
|
NM_182961.4(SYNE1):c.24933G>A (p.Gln8311=)
|
|
|
|
NM_182961.4(SYNE1):c.24972A>C (p.Leu8324Phe)
|
rs1554420700
|
|
|
NM_182961.4(SYNE1):c.24976+8A>G
|
|
|
|
NM_182961.4(SYNE1):c.24976+9G>A
|
rs749217089
|
|
|
NM_182961.4(SYNE1):c.24977-13_24996del
|
|
|
|
NM_182961.4(SYNE1):c.24977-15T>C
|
|
|
|
NM_182961.4(SYNE1):c.24977-1706C>T
|
|
|
|
NM_182961.4(SYNE1):c.24977-1711_24977-1709del
|
|
|
|
NM_182961.4(SYNE1):c.24977-1714C>G
|
|
|
|
NM_182961.4(SYNE1):c.24977-1795dup
|
|
|
|
NM_182961.4(SYNE1):c.24977-17T>A
|
|
|
|
NM_182961.4(SYNE1):c.24977-1803G>C
|
|
|
|
NM_182961.4(SYNE1):c.24977-4G>A
|
|
|
|
NM_182961.4(SYNE1):c.24978G>T (p.Gly8326=)
|
|
|
|
NM_182961.4(SYNE1):c.24987T>C (p.Ser8329=)
|
rs1562984259
|
|
|
NM_182961.4(SYNE1):c.24989C>T (p.Ala8330Val)
|
|
|
|
NM_182961.4(SYNE1):c.24992T>C (p.Leu8331Pro)
|
rs532387179
|
|
|
NM_182961.4(SYNE1):c.25011A>G (p.Gln8337=)
|
|
|
|
NM_182961.4(SYNE1):c.25014_25015delinsCT (p.Gly8339Cys)
|
rs2152832436
|
|
|
NM_182961.4(SYNE1):c.25030G>A (p.Asp8344Asn)
|
|
|
|
NM_182961.4(SYNE1):c.25037_25038delinsTC (p.Arg8346Leu)
|
|
|
|
NM_182961.4(SYNE1):c.25047A>T (p.Ile8349=)
|
|
|
|
NM_182961.4(SYNE1):c.25051C>G (p.Gln8351Glu)
|
rs886044213
|
|
|
NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His)
|
rs766534980
|
|
|
NM_182961.4(SYNE1):c.25091C>G (p.Pro8364Arg)
|
|
|
|
NM_182961.4(SYNE1):c.25115G>T (p.Gly8372Val)
|
|
|
|
NM_182961.4(SYNE1):c.25119+18C>A
|
|
|
|
NM_182961.4(SYNE1):c.25119+1G>A
|
rs1164612098
|
|
|
NM_182961.4(SYNE1):c.25120-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.25120-20G>A
|
|
|
|
NM_182961.4(SYNE1):c.25120-3C>T
|
rs749447242
|
|
|
NM_182961.4(SYNE1):c.25120-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.25129C>T (p.Leu8377=)
|
|
|
|
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=)
|
rs576598951
|
|
|
NM_182961.4(SYNE1):c.25135G>C (p.Glu8379Gln)
|
|
|
|
NM_182961.4(SYNE1):c.25139G>T (p.Cys8380Phe)
|
|
|
|
NM_182961.4(SYNE1):c.25140C>T (p.Cys8380=)
|
rs1585993590
|
|
|
NM_182961.4(SYNE1):c.25150A>G (p.Ile8384Val)
|
rs1421570389
|
|
|
NM_182961.4(SYNE1):c.25151T>C (p.Ile8384Thr)
|
|
|
|
NM_182961.4(SYNE1):c.25157C>A (p.Ser8386Tyr)
|
rs1466825112
|
|
|
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu)
|
rs119103247
|
|
|
NM_182961.4(SYNE1):c.25192GAG[1] (p.Glu8399del)
|
|
|
|
NM_182961.4(SYNE1):c.25193A>G (p.Glu8398Gly)
|
rs2152810960
|
|
|
NM_182961.4(SYNE1):c.25199G>A (p.Ser8400Asn)
|
rs769976238
|
|
|
NM_182961.4(SYNE1):c.25199G>T (p.Ser8400Ile)
|
rs769976238
|
|
|
NM_182961.4(SYNE1):c.25218C>T (p.Asn8406=)
|
|
|
|
NM_182961.4(SYNE1):c.25231G>C (p.Glu8411Gln)
|
rs371211999
|
|
|
NM_182961.4(SYNE1):c.25234A>G (p.Thr8412Ala)
|
|
|
|
NM_182961.4(SYNE1):c.25242G>A (p.Thr8414=)
|
|
|
|
NM_182961.4(SYNE1):c.25246+7G>A
|
rs1585989458
|
|
|
NM_182961.4(SYNE1):c.25246+8C>G
|
rs760126474
|
|
|
NM_182961.4(SYNE1):c.25247-16A>G
|
|
|
|
NM_182961.4(SYNE1):c.25247-16_25247-15dup
|
rs2152800859
|
|
|
NM_182961.4(SYNE1):c.25258C>T (p.Arg8420Ter)
|
|
|
|
NM_182961.4(SYNE1):c.25259G>A (p.Arg8420Gln)
|
rs556231915
|
|
|
NM_182961.4(SYNE1):c.25267C>T (p.Leu8423Phe)
|
|
|
|
NM_182961.4(SYNE1):c.25347G>A (p.Leu8449=)
|
rs1292954995
|
|
|
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
|
|
|
|
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)
|
rs2098713648
|
|
|
NM_182961.4(SYNE1):c.25375A>C (p.Thr8459Pro)
|
rs754937504
|
|
|
NM_182961.4(SYNE1):c.25377G>C (p.Thr8459=)
|
rs755748581
|
|
|
NM_182961.4(SYNE1):c.25383G>A (p.Glu8461=)
|
rs2152799773
|
|
|
NM_182961.4(SYNE1):c.25384G>A (p.Glu8462Lys)
|
|
|
|
NM_182961.4(SYNE1):c.25386G>C (p.Glu8462Asp)
|
|
|
|
NM_182961.4(SYNE1):c.25387T>C (p.Leu8463=)
|
|
|
|
NM_182961.4(SYNE1):c.25434C>T (p.Ile8478=)
|
|
|
|
NM_182961.4(SYNE1):c.25435G>A (p.Glu8479Lys)
|
rs754577367
|
|
|
NM_182961.4(SYNE1):c.25439T>A (p.Leu8480His)
|
rs2152799197
|
|
|
NM_182961.4(SYNE1):c.25443G>C (p.Gln8481His)
|
rs886061191
|
|
|
NM_182961.4(SYNE1):c.25458+13T>C
|
|
|
|
NM_182961.4(SYNE1):c.25459-8C>A
|
|
|
|
NM_182961.4(SYNE1):c.25464C>G (p.Leu8488=)
|
rs2152753360
|
|
|
NM_182961.4(SYNE1):c.25498C>G (p.Leu8500Val)
|
|
|
|
NM_182961.4(SYNE1):c.25504A>G (p.Ile8502Val)
|
rs2057180997
|
|
|
NM_182961.4(SYNE1):c.25509T>C (p.Asn8503=)
|
|
|
|
NM_182961.4(SYNE1):c.25528A>C (p.Thr8510Pro)
|
|
|
|
NM_182961.4(SYNE1):c.25529C>T (p.Thr8510Ile)
|
rs1404247560
|
|
|
NM_182961.4(SYNE1):c.25542C>T (p.Ser8514=)
|
|
|
|
NM_182961.4(SYNE1):c.25589G>A (p.Arg8530His)
|
|
|
|
NM_182961.4(SYNE1):c.25591T>A (p.Trp8531Arg)
|
|
|
|
NM_182961.4(SYNE1):c.25598G>A (p.Arg8533Gln)
|
rs1420121296
|
|
|
NM_182961.4(SYNE1):c.25604G>A (p.Cys8535Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.25634T>G (p.Leu8545Arg)
|
|
|
|
NM_182961.4(SYNE1):c.25659+16G>C
|
|
|
|
NM_182961.4(SYNE1):c.25659+18C>G
|
|
|
|
NM_182961.4(SYNE1):c.25660-11_25660-10del
|
rs1585772300
|
|
|
NM_182961.4(SYNE1):c.25660-4G>A
|
|
|
|
NM_182961.4(SYNE1):c.25660-8T>C
|
rs371504964
|
|
|
NM_182961.4(SYNE1):c.25679A>G (p.His8560Arg)
|
rs1164254591
|
|
|
NM_182961.4(SYNE1):c.2568+1G>A
|
rs2154261629
|
|
|
NM_182961.4(SYNE1):c.2569-14T>G
|
rs2154258222
|
|
|
NM_182961.4(SYNE1):c.2569-19G>C
|
|
|
|
NM_182961.4(SYNE1):c.25704C>T (p.Asn8568=)
|
rs559811773
|
|
|
NM_182961.4(SYNE1):c.25705A>G (p.Ile8569Val)
|
rs1260198851
|
|
|
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu)
|
rs1562922141
|
|
|
NM_182961.4(SYNE1):c.2572C>T (p.Leu858=)
|
|
|
|
NM_182961.4(SYNE1):c.25731C>G (p.Val8577=)
|
rs2152737515
|
|
|
NM_182961.4(SYNE1):c.25746C>T (p.Asn8582=)
|
rs774875575
|
|
|
NM_182961.4(SYNE1):c.25747C>G (p.Leu8583Val)
|
|
|
|
NM_182961.4(SYNE1):c.25750G>A (p.Asp8584Asn)
|
|
|
|
NM_182961.4(SYNE1):c.25751A>G (p.Asp8584Gly)
|
|
|
|
NM_182961.4(SYNE1):c.25756G>A (p.Glu8586Lys)
|
|
|
|
NM_182961.4(SYNE1):c.25758G>A (p.Glu8586=)
|
|
|
|
NM_182961.4(SYNE1):c.25776C>A (p.His8592Gln)
|
rs544950546
|
|
|
NM_182961.4(SYNE1):c.25788+18dup
|
rs1187750937
|
|
|
NM_182961.4(SYNE1):c.25788+6A>G
|
|
|
|
NM_182961.4(SYNE1):c.25789-10G>A
|
rs2056337983
|
|
|
NM_182961.4(SYNE1):c.25791A>T (p.Gln8597His)
|
|
|
|
NM_182961.4(SYNE1):c.25797G>T (p.Lys8599Asn)
|
|
|
|
NM_182961.4(SYNE1):c.25807T>C (p.Leu8603=)
|
|
|
|
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
|
|
|
|
NM_182961.4(SYNE1):c.25820T>C (p.Leu8607Pro)
|
rs2152720317
|
|
|
NM_182961.4(SYNE1):c.25840G>C (p.Asp8614His)
|
rs756313747
|
|
|
NM_182961.4(SYNE1):c.25843A>C (p.Met8615Leu)
|
|
|
|
NM_182961.4(SYNE1):c.25866T>C (p.Asn8622=)
|
|
|
|
NM_182961.4(SYNE1):c.25888G>T (p.Glu8630Ter)
|
|
|
|
NM_182961.4(SYNE1):c.25904T>C (p.Val8635Ala)
|
|
|
|
NM_182961.4(SYNE1):c.25916G>C (p.Gly8639Ala)
|
|
|
|
NM_182961.4(SYNE1):c.2591A>G (p.Asn864Ser)
|
rs13210845
|
|
|
NM_182961.4(SYNE1):c.25926C>G (p.Leu8642=)
|
|
|
|
NM_182961.4(SYNE1):c.25935C>T (p.Leu8645=)
|
|
|
|
NM_182961.4(SYNE1):c.2593T>A (p.Cys865Ser)
|
rs1192925822
|
|
|
NM_182961.4(SYNE1):c.25984G>A (p.Val8662Met)
|
|
|
|
NM_182961.4(SYNE1):c.2598G>A (p.Lys866=)
|
rs1288453744
|
|
|
NM_182961.4(SYNE1):c.25992T>C (p.Ser8664=)
|
rs2152718592
|
|
|
NM_182961.4(SYNE1):c.25993A>T (p.Ser8665Cys)
|
|
|
|
NM_182961.4(SYNE1):c.25999C>A (p.Gln8667Lys)
|
|
|
|
NM_182961.4(SYNE1):c.25C>A (p.Arg9=)
|
|
|
|
NM_182961.4(SYNE1):c.26001+11A>T
|
|
|
|
NM_182961.4(SYNE1):c.26001+15G>A
|
|
|
|
NM_182961.4(SYNE1):c.26001+7_26001+8delinsTC
|
rs2152718365
|
|
|
NM_182961.4(SYNE1):c.26002-17A>G
|
|
|
|
NM_182961.4(SYNE1):c.26002-7C>T
|
|
|
|
NM_182961.4(SYNE1):c.26017T>C (p.Ser8673Pro)
|
|
|
|
NM_182961.4(SYNE1):c.26023G>A (p.Ala8675Thr)
|
rs1554376325
|
|
|
NM_182961.4(SYNE1):c.26040C>T (p.Thr8680=)
|
|
|
|
NM_182961.4(SYNE1):c.26043A>G (p.Ser8681=)
|
rs1657226622
|
|
|
NM_182961.4(SYNE1):c.2604C>A (p.Thr868=)
|
|
|
|
NM_182961.4(SYNE1):c.26055T>C (p.Ser8685=)
|
|
|
|
NM_182961.4(SYNE1):c.26066G>A (p.Gly8689Glu)
|
rs2152705585
|
|
|
NM_182961.4(SYNE1):c.26068A>G (p.Arg8690Gly)
|
|
|
|
NM_182961.4(SYNE1):c.26073C>A (p.Ser8691Arg)
|
|
|
|
NM_182961.4(SYNE1):c.26094+17C>T
|
|
|
|
NM_182961.4(SYNE1):c.26094+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.26095-15G>A
|
|
|
|
NM_182961.4(SYNE1):c.26095-17dup
|
|
|
|
NM_182961.4(SYNE1):c.26100A>G (p.Arg8700=)
|
rs1554372048
|
|
|
NM_182961.4(SYNE1):c.26138G>T (p.Ser8713Ile)
|
|
|
|
NM_182961.4(SYNE1):c.26148T>C (p.His8716=)
|
|
|
|
NM_182961.4(SYNE1):c.26153+18T>A
|
rs1057523744
|
|
|
NM_182961.4(SYNE1):c.26153+5C>T
|
|
|
|
NM_182961.4(SYNE1):c.26153+6T>C
|
|
|
|
NM_182961.4(SYNE1):c.26153+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.26154-10C>A
|
rs749838365
|
|
|
NM_182961.4(SYNE1):c.26154-10C>T
|
rs749838365
|
|
|
NM_182961.4(SYNE1):c.26154-16T>A
|
|
|
|
NM_182961.4(SYNE1):c.26154-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.26172C>T (p.Ser8724=)
|
|
|
|
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe)
|
rs1585315718
|
|
|
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu)
|
rs1554349162
|
|
|
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln)
|
rs2295192
|
|
|
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu)
|
rs2295192
|
|
|
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr)
|
rs1258213221
|
|
|
NM_182961.4(SYNE1):c.26241A>G (p.Ala8747=)
|
rs2152525767
|
|
|
NM_182961.4(SYNE1):c.2624del (p.Gly875fs)
|
|
|
|
NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del)
|
rs1310428962
|
|
|
NM_182961.4(SYNE1):c.26277C>T (p.Ile8759=)
|
|
|
|
NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val)
|
rs983040762
|
|
|
NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)
|
|
|
|
NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=)
|
|
|
|
NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu)
|
rs2051624339
|
|
|
NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys)
|
rs567376316
|
|
|
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met)
|
rs567376316
|
|
|
NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser)
|
rs754932611
|
|
|
NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=)
|
rs2152524493
|
|
|
NM_182961.4(SYNE1):c.2684C>G (p.Thr895Arg)
|
rs373633207
|
|
|
NM_182961.4(SYNE1):c.2684C>T (p.Thr895Met)
|
rs373633207
|
|
|
NM_182961.4(SYNE1):c.2688G>A (p.Arg896=)
|
rs766583731
|
|
|
NM_182961.4(SYNE1):c.2688G>C (p.Arg896Ser)
|
|
|
|
NM_182961.4(SYNE1):c.2727+14C>T
|
|
|
|
NM_182961.4(SYNE1):c.2728-14T>C
|
|
|
|
NM_182961.4(SYNE1):c.2728A>T (p.Ser910Cys)
|
rs141214076
|
|
|
NM_182961.4(SYNE1):c.274A>G (p.Ile92Val)
|
rs756151309
|
|
|
NM_182961.4(SYNE1):c.2761C>T (p.His921Tyr)
|
rs746476950
|
|
|
NM_182961.4(SYNE1):c.2766G>A (p.Val922=)
|
|
|
|
NM_182961.4(SYNE1):c.2772C>T (p.Thr924=)
|
|
|
|
NM_182961.4(SYNE1):c.2779C>T (p.Arg927Cys)
|
|
|
|
NM_182961.4(SYNE1):c.2780G>A (p.Arg927His)
|
|
|
|
NM_182961.4(SYNE1):c.2798A>G (p.Glu933Gly)
|
rs2098689694
|
|
|
NM_182961.4(SYNE1):c.2810C>A (p.Ala937Glu)
|
|
|
|
NM_182961.4(SYNE1):c.281C>T (p.Thr94Met)
|
|
|
|
NM_182961.4(SYNE1):c.2821A>G (p.Lys941Glu)
|
rs2154257288
|
|
|
NM_182961.4(SYNE1):c.2830C>T (p.Arg944Trp)
|
|
|
|
NM_182961.4(SYNE1):c.2831G>A (p.Arg944Gln)
|
|
|
|
NM_182961.4(SYNE1):c.2835T>A (p.Ile945=)
|
|
|
|
NM_182961.4(SYNE1):c.2846G>A (p.Gly949Asp)
|
|
|
|
NM_182961.4(SYNE1):c.2859G>A (p.Lys953=)
|
rs2098689434
|
|
|
NM_182961.4(SYNE1):c.285A>G (p.Ala95=)
|
rs2154348348
|
|
|
NM_182961.4(SYNE1):c.2869G>C (p.Glu957Gln)
|
rs2154257153
|
|
|
NM_182961.4(SYNE1):c.2871G>A (p.Glu957=)
|
|
|
|
NM_182961.4(SYNE1):c.2881C>A (p.Arg961=)
|
|
|
|
NM_182961.4(SYNE1):c.2886A>G (p.Arg962=)
|
|
|
|
NM_182961.4(SYNE1):c.288C>G (p.Leu96=)
|
|
|
|
NM_182961.4(SYNE1):c.2892+11C>T
|
|
|
|
NM_182961.4(SYNE1):c.2893-12C>G
|
|
|
|
NM_182961.4(SYNE1):c.2893-15C>T
|
|
|
|
NM_182961.4(SYNE1):c.2893-6T>C
|
rs886042945
|
|
|
NM_182961.4(SYNE1):c.2946T>C (p.Cys982=)
|
|
|
|
NM_182961.4(SYNE1):c.2958C>T (p.Thr986=)
|
|
|
|
NM_182961.4(SYNE1):c.2974C>A (p.Gln992Lys)
|
|
|
|
NM_182961.4(SYNE1):c.2975A>C (p.Gln992Pro)
|
rs1564137172
|
|
|
NM_182961.4(SYNE1):c.297C>T (p.Leu99=)
|
rs1355556442
|
|
|
NM_182961.4(SYNE1):c.2988G>C (p.Gly996=)
|
|
|
|
NM_182961.4(SYNE1):c.2991G>C (p.Leu997=)
|
|
|
|
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter)
|
rs2154254291
|
|
|
NM_182961.4(SYNE1):c.2998G>A (p.Ala1000Thr)
|
rs771446969
|
|
|
NM_182961.4(SYNE1):c.299A>C (p.Glu100Ala)
|
|
|
|
NM_182961.4(SYNE1):c.3004C>A (p.Arg1002=)
|
rs1264723962
|
|
|
NM_182961.4(SYNE1):c.3009G>A (p.Lys1003=)
|
|
|
|
NM_182961.4(SYNE1):c.3027+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.3055T>C (p.Leu1019=)
|
rs2098645628
|
|
|
NM_182961.4(SYNE1):c.3077T>C (p.Val1026Ala)
|
rs776586157
|
|
|
NM_182961.4(SYNE1):c.3083A>G (p.Lys1028Arg)
|
rs369619658
|
|
|
NM_182961.4(SYNE1):c.309+3A>G
|
rs2099133351
|
|
|
NM_182961.4(SYNE1):c.309+5G>C
|
rs2154348308
|
|
|
NM_182961.4(SYNE1):c.3090G>T (p.Arg1030Ser)
|
rs925892033
|
|
|
NM_182961.4(SYNE1):c.310-18T>G
|
rs1353458809
|
|
|
NM_182961.4(SYNE1):c.310-482C>T
|
rs561359644
|
|
|
NM_182961.4(SYNE1):c.310-495A>G
|
|
|
|
NM_182961.4(SYNE1):c.310-498T>C
|
|
|
|
NM_182961.4(SYNE1):c.310-498_310-497del
|
|
|
|
NM_182961.4(SYNE1):c.310-506C>A
|
|
|
|
NM_182961.4(SYNE1):c.310-506C>T
|
|
|
|
NM_182961.4(SYNE1):c.310-7T>A
|
rs1341089745
|
|
|
NM_182961.4(SYNE1):c.310-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.3109G>A (p.Glu1037Lys)
|
rs545152377
|
|
|
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
|
|
|
|
NM_182961.4(SYNE1):c.3175A>T (p.Lys1059Ter)
|
|
|
|
NM_182961.4(SYNE1):c.3180G>C (p.Glu1060Asp)
|
|
|
|
NM_182961.4(SYNE1):c.3186+18C>T
|
|
|
|
NM_182961.4(SYNE1):c.3186+18del
|
rs2154250649
|
|
|
NM_182961.4(SYNE1):c.3186+20A>G
|
rs2154250647
|
|
|
NM_182961.4(SYNE1):c.3186+9C>A
|
|
|
|
NM_182961.4(SYNE1):c.3208C>A (p.Pro1070Thr)
|
|
|
|
NM_182961.4(SYNE1):c.3211C>T (p.His1071Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.3217C>T (p.Leu1073Phe)
|
|
|
|
NM_182961.4(SYNE1):c.3230G>C (p.Arg1077Thr)
|
|
|
|
NM_182961.4(SYNE1):c.3230G>T (p.Arg1077Met)
|
|
|
|
NM_182961.4(SYNE1):c.323A>G (p.Asn108Ser)
|
|
|
|
NM_182961.4(SYNE1):c.3243C>T (p.Ile1081=)
|
|
|
|
NM_182961.4(SYNE1):c.3254G>A (p.Cys1085Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.3256G>A (p.Val1086Met)
|
rs1592962615
|
|
|
NM_182961.4(SYNE1):c.3258G>A (p.Val1086=)
|
|
|
|
NM_182961.4(SYNE1):c.3262C>T (p.Leu1088Phe)
|
rs2098641244
|
|
|
NM_182961.4(SYNE1):c.3304C>T (p.His1102Tyr)
|
rs2098640852
|
|
|
NM_182961.4(SYNE1):c.3319_3320delinsAT (p.Glu1107Met)
|
|
|
|
NM_182961.4(SYNE1):c.3321G>T (p.Glu1107Asp)
|
rs2154250248
|
|
|
NM_182961.4(SYNE1):c.3324C>A (p.Leu1108=)
|
rs1392215550
|
|
|
NM_182961.4(SYNE1):c.3341G>A (p.Ser1114Asn)
|
rs377684975
|
|
|
NM_182961.4(SYNE1):c.3348C>T (p.Tyr1116=)
|
|
|
|
NM_182961.4(SYNE1):c.3376T>C (p.Trp1126Arg)
|
|
|
|
NM_182961.4(SYNE1):c.3388A>T (p.Thr1130Ser)
|
rs1194769025
|
|
|
NM_182961.4(SYNE1):c.3389C>G (p.Thr1130Ser)
|
|
|
|
NM_182961.4(SYNE1):c.338A>G (p.Asp113Gly)
|
rs886044019
|
|
|
NM_182961.4(SYNE1):c.3395+20C>G
|
|
|
|
NM_182961.4(SYNE1):c.3395+7T>C
|
|
|
|
NM_182961.4(SYNE1):c.3396-16G>A
|
|
|
|
NM_182961.4(SYNE1):c.339T>C (p.Asp113=)
|
|
|
|
NM_182961.4(SYNE1):c.3419T>C (p.Ile1140Thr)
|
rs1352916426
|
|
|
NM_182961.4(SYNE1):c.3446G>A (p.Gly1149Glu)
|
rs1592939078
|
|
|
NM_182961.4(SYNE1):c.3494G>T (p.Arg1165Leu)
|
rs201354687
|
|
|
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer)
|
rs1554721227
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NM_182961.4(SYNE1):c.3504+13T>C
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NM_182961.4(SYNE1):c.3504+5G>C
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rs1398879746
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NM_182961.4(SYNE1):c.3504+9A>G
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NM_182961.4(SYNE1):c.3549G>T (p.Trp1183Cys)
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rs2098603484
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NM_182961.4(SYNE1):c.3556T>C (p.Ser1186Pro)
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NM_182961.4(SYNE1):c.3621G>A (p.Leu1207=)
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NM_182961.4(SYNE1):c.3630A>T (p.Leu1210Phe)
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NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
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NM_182961.4(SYNE1):c.3649C>A (p.Leu1217Ile)
|
rs2154244956
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NM_182961.4(SYNE1):c.3650T>C (p.Leu1217Pro)
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NM_182961.4(SYNE1):c.3660G>A (p.Leu1220=)
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NM_182961.4(SYNE1):c.3669+13C>T
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NM_182961.4(SYNE1):c.3669+20T>G
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NM_182961.4(SYNE1):c.3670-14T>C
|
rs780827995
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NM_182961.4(SYNE1):c.3670-14del
|
rs111322292
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NM_182961.4(SYNE1):c.3670-14dup
|
rs111322292
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NM_182961.4(SYNE1):c.3670-17T>C
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NM_182961.4(SYNE1):c.3720A>G (p.Ile1240Met)
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NM_182961.4(SYNE1):c.3723C>G (p.Val1241=)
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rs1041302788
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NM_182961.4(SYNE1):c.3736G>C (p.Glu1246Gln)
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NM_182961.4(SYNE1):c.3749C>G (p.Ser1250Cys)
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rs775456029
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NM_182961.4(SYNE1):c.3769G>A (p.Glu1257Lys)
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NM_182961.4(SYNE1):c.3772C>A (p.Gln1258Lys)
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NM_182961.4(SYNE1):c.3795T>C (p.Thr1265=)
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NM_182961.4(SYNE1):c.3803T>A (p.Leu1268Gln)
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rs2154239333
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NM_182961.4(SYNE1):c.3810A>G (p.Glu1270=)
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rs2154239316
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NM_182961.4(SYNE1):c.3837+17C>A
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NM_182961.4(SYNE1):c.3837+9G>A
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rs756594812
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NM_182961.4(SYNE1):c.384C>T (p.Thr128=)
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rs773315965
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NM_182961.4(SYNE1):c.3852G>A (p.Arg1284=)
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NM_182961.4(SYNE1):c.3869G>C (p.Arg1290Thr)
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NM_182961.4(SYNE1):c.3873T>C (p.Asp1291=)
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rs778275142
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NM_182961.4(SYNE1):c.3873T>G (p.Asp1291Glu)
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NM_182961.4(SYNE1):c.3897G>A (p.Ala1299=)
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NM_182961.4(SYNE1):c.3897G>T (p.Ala1299=)
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NM_182961.4(SYNE1):c.3899A>G (p.Gln1300Arg)
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NM_182961.4(SYNE1):c.38A>G (p.Asp13Gly)
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rs2099690291
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NM_182961.4(SYNE1):c.3911G>T (p.Gly1304Val)
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NM_182961.4(SYNE1):c.3912G>C (p.Gly1304=)
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NM_182961.4(SYNE1):c.3913G>A (p.Gly1305Arg)
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rs1350747356
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NM_182961.4(SYNE1):c.3914G>T (p.Gly1305Val)
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NM_182961.4(SYNE1):c.3917T>C (p.Leu1306Pro)
|
rs1417438989
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NM_182961.4(SYNE1):c.3925C>T (p.Arg1309Ter)
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NM_182961.4(SYNE1):c.3926G>C (p.Arg1309Pro)
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NM_182961.4(SYNE1):c.393A>C (p.Leu131=)
|
rs139291592
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NM_182961.4(SYNE1):c.393A>G (p.Leu131=)
|
rs139291592
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NM_182961.4(SYNE1):c.3956G>A (p.Ser1319Asn)
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NM_182961.4(SYNE1):c.3958A>G (p.Thr1320Ala)
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NM_182961.4(SYNE1):c.396T>C (p.Tyr132=)
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NM_182961.4(SYNE1):c.3971T>G (p.Leu1324Arg)
|
rs911005692
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NM_182961.4(SYNE1):c.3977G>A (p.Arg1326His)
|
rs371842938
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NM_182961.4(SYNE1):c.3977G>T (p.Arg1326Leu)
|
rs371842938
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NM_182961.4(SYNE1):c.3982C>T (p.Arg1328Trp)
|
rs1465224604
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NM_182961.4(SYNE1):c.4000C>G (p.Arg1334Gly)
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NM_182961.4(SYNE1):c.4008+18G>A
|
rs2154232610
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NM_182961.4(SYNE1):c.4008+20G>A
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NM_182961.4(SYNE1):c.4008+5G>T
|
rs1350714036
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NM_182961.4(SYNE1):c.4009-19T>C
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NM_182961.4(SYNE1):c.402+16del
|
rs1459487255
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NM_182961.4(SYNE1):c.402+18C>A
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NM_182961.4(SYNE1):c.403-10T>G
|
rs886061219
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NM_182961.4(SYNE1):c.403-16G>A
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NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs)
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rs2098527248
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NM_182961.4(SYNE1):c.4063T>C (p.Tyr1355His)
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NM_182961.4(SYNE1):c.408A>G (p.Glu136=)
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NM_182961.4(SYNE1):c.4098C>T (p.Phe1366=)
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NM_182961.4(SYNE1):c.4103G>C (p.Ser1368Thr)
|
rs998116525
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NM_182961.4(SYNE1):c.4121G>A (p.Ser1374Asn)
|
rs1554707111
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NM_182961.4(SYNE1):c.4149+11del
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NM_182961.4(SYNE1):c.4149+14C>T
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NM_182961.4(SYNE1):c.4149+17T>G
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NM_182961.4(SYNE1):c.4149+9T>C
|
rs1554706986
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NM_182961.4(SYNE1):c.4150-12T>C
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NM_182961.4(SYNE1):c.4150-20G>A
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NM_182961.4(SYNE1):c.4150-20G>T
|
rs372652425
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NM_182961.4(SYNE1):c.4150-5dup
|
rs776033844
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NM_182961.4(SYNE1):c.4156T>C (p.Ser1386Pro)
|
rs1554696981
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NM_182961.4(SYNE1):c.4162C>A (p.Arg1388=)
|
rs34028822
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NM_182961.4(SYNE1):c.4163G>A (p.Arg1388Gln)
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NM_182961.4(SYNE1):c.4183C>A (p.Gln1395Lys)
|
rs2098471423
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NM_182961.4(SYNE1):c.4189G>C (p.Glu1397Gln)
|
rs149918889
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NM_182961.4(SYNE1):c.4215G>A (p.Glu1405=)
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NM_182961.4(SYNE1):c.4218A>C (p.Ile1406=)
|
rs368727420
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NM_182961.4(SYNE1):c.4218A>T (p.Ile1406=)
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NM_182961.4(SYNE1):c.4220C>T (p.Pro1407Leu)
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NM_182961.4(SYNE1):c.4221G>A (p.Pro1407=)
|
rs200370595
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NM_182961.4(SYNE1):c.4233A>G (p.Gln1411=)
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NM_182961.4(SYNE1):c.4239G>A (p.Lys1413=)
|
rs895948901
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NM_182961.4(SYNE1):c.4244T>G (p.Leu1415Arg)
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NM_182961.4(SYNE1):c.4257G>A (p.Gln1419=)
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NM_182961.4(SYNE1):c.4275A>G (p.Glu1425=)
|
rs2154214696
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NM_182961.4(SYNE1):c.4292A>G (p.Glu1431Gly)
|
rs779044367
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NM_182961.4(SYNE1):c.4298C>A (p.Thr1433Lys)
|
rs139798419
|
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NM_182961.4(SYNE1):c.42C>T (p.Ile14=)
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NM_182961.4(SYNE1):c.4305A>G (p.Glu1435=)
|
rs2098470446
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NM_182961.4(SYNE1):c.4310+7G>C
|
rs1564002853
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NM_182961.4(SYNE1):c.4313T>A (p.Ile1438Asn)
|
rs886044260
|
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NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
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NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)
|
rs794727577
|
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NM_182961.4(SYNE1):c.4373T>C (p.Leu1458Pro)
|
rs2154210873
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NM_182961.4(SYNE1):c.4378G>C (p.Val1460Leu)
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NM_182961.4(SYNE1):c.4378G>T (p.Val1460Phe)
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NM_182961.4(SYNE1):c.4388C>G (p.Thr1463Ser)
|
rs2154210826
|
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NM_182961.4(SYNE1):c.4411G>A (p.Ala1471Thr)
|
rs1350630909
|
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NM_182961.4(SYNE1):c.4413C>T (p.Ala1471=)
|
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NM_182961.4(SYNE1):c.4425G>A (p.Ser1475=)
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NM_182961.4(SYNE1):c.4444C>G (p.Gln1482Glu)
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NM_182961.4(SYNE1):c.4449C>G (p.Ile1483Met)
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NM_182961.4(SYNE1):c.4461+12A>C
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NM_182961.4(SYNE1):c.4461+16A>G
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NM_182961.4(SYNE1):c.4461+18_4461+20del
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NM_182961.4(SYNE1):c.4461+19A>G
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NM_182961.4(SYNE1):c.4461+6C>T
|
rs776194459
|
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NM_182961.4(SYNE1):c.4462-10T>C
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NM_182961.4(SYNE1):c.4462G>A (p.Val1488Ile)
|
rs2154201681
|
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NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)
|
rs757744079
|
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NM_182961.4(SYNE1):c.4521C>A (p.Ala1507=)
|
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NM_182961.4(SYNE1):c.4523_4524insTCA (p.Ala1507_Gln1508insHis)
|
rs2098420279
|
|
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NM_182961.4(SYNE1):c.4528T>C (p.Phe1510Leu)
|
rs1554687302
|
|
|
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)
|
rs988770583
|
|
|
NM_182961.4(SYNE1):c.4535A>G (p.Gln1512Arg)
|
rs141597053
|
|
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NM_182961.4(SYNE1):c.453C>T (p.Ser151=)
|
rs749920635
|
|
|
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=)
|
rs776593228
|
|
|
NM_182961.4(SYNE1):c.4603G>A (p.Glu1535Lys)
|
rs1209224800
|
|
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NM_182961.4(SYNE1):c.4619C>A (p.Ala1540Glu)
|
rs1187109031
|
|
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NM_182961.4(SYNE1):c.4625G>A (p.Cys1542Tyr)
|
rs1487588055
|
|
|
NM_182961.4(SYNE1):c.4650T>G (p.His1550Gln)
|
rs1295935097
|
|
|
NM_182961.4(SYNE1):c.4659G>C (p.Gln1553His)
|
rs144533000
|
|
|
NM_182961.4(SYNE1):c.4676A>T (p.Glu1559Val)
|
rs1554686616
|
|
|
NM_182961.4(SYNE1):c.4680C>A (p.Asn1560Lys)
|
|
|
|
NM_182961.4(SYNE1):c.4689+12T>A
|
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NM_182961.4(SYNE1):c.4689+13C>G
|
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NM_182961.4(SYNE1):c.4689+15A>G
|
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NM_182961.4(SYNE1):c.4689+16C>G
|
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NM_182961.4(SYNE1):c.4690-10A>G
|
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NM_182961.4(SYNE1):c.4690-14C>T
|
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NM_182961.4(SYNE1):c.4690-15G>A
|
rs2154201104
|
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|
NM_182961.4(SYNE1):c.4695G>T (p.Gln1565His)
|
rs2154201077
|
|
|
NM_182961.4(SYNE1):c.4703T>C (p.Val1568Ala)
|
rs2154201070
|
|
|
NM_182961.4(SYNE1):c.4729G>C (p.Val1577Leu)
|
rs2098415660
|
|
|
NM_182961.4(SYNE1):c.4744T>A (p.Cys1582Ser)
|
rs1394715779
|
|
|
NM_182961.4(SYNE1):c.4756A>G (p.Thr1586Ala)
|
rs749571011
|
|
|
NM_182961.4(SYNE1):c.4765T>C (p.Tyr1589His)
|
|
|
|
NM_182961.4(SYNE1):c.4782A>G (p.Glu1594=)
|
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|
NM_182961.4(SYNE1):c.4787T>A (p.Met1596Lys)
|
|
|
|
NM_182961.4(SYNE1):c.4788+19A>G
|
rs764033698
|
|
|
NM_182961.4(SYNE1):c.4788+20T>C
|
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|
NM_182961.4(SYNE1):c.4789-10C>T
|
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|
NM_182961.4(SYNE1):c.4789-13G>C
|
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|
NM_182961.4(SYNE1):c.4789-3T>C
|
rs1228194784
|
|
|
NM_182961.4(SYNE1):c.4789-5_4789-3del
|
rs1592495200
|
|
|
NM_182961.4(SYNE1):c.4789-6T>C
|
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|
|
NM_182961.4(SYNE1):c.4789-9T>G
|
|
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|
NM_182961.4(SYNE1):c.4824G>C (p.Ala1608=)
|
|
|
|
NM_182961.4(SYNE1):c.487A>T (p.Thr163Ser)
|
rs886061218
|
|
|
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly)
|
rs566004273
|
|
|
NM_182961.4(SYNE1):c.4890G>A (p.Ala1630=)
|
|
|
|
NM_182961.4(SYNE1):c.4892C>T (p.Ala1631Val)
|
rs1268913905
|
|
|
NM_182961.4(SYNE1):c.4894C>T (p.Leu1632=)
|
|
|
|
NM_182961.4(SYNE1):c.4899G>A (p.Gln1633=)
|
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|
|
NM_182961.4(SYNE1):c.4902G>A (p.Gln1634=)
|
rs886044228
|
|
|
NM_182961.4(SYNE1):c.4909G>C (p.Glu1637Gln)
|
|
|
|
NM_182961.4(SYNE1):c.4923G>A (p.Arg1641=)
|
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|
NM_182961.4(SYNE1):c.4928C>G (p.Ala1643Gly)
|
|
|
|
NM_182961.4(SYNE1):c.4944G>A (p.Thr1648=)
|
|
|
|
NM_182961.4(SYNE1):c.4959G>C (p.Leu1653=)
|
|
|
|
NM_182961.4(SYNE1):c.4975_4976+8del
|
rs1592490234
|
|
|
NM_182961.4(SYNE1):c.4976+10A>G
|
|
|
|
NM_182961.4(SYNE1):c.4977-16T>C
|
|
|
|
NM_182961.4(SYNE1):c.4977-18G>T
|
|
|
|
NM_182961.4(SYNE1):c.4981G>A (p.Glu1661Lys)
|
rs2154197911
|
|
|
NM_182961.4(SYNE1):c.5018G>C (p.Arg1673Pro)
|
rs749115727
|
|
|
NM_182961.4(SYNE1):c.5019G>A (p.Arg1673=)
|
|
|
|
NM_182961.4(SYNE1):c.5026G>T (p.Ala1676Ser)
|
|
|
|
NM_182961.4(SYNE1):c.503G>C (p.Ser168Thr)
|
|
|
|
NM_182961.4(SYNE1):c.5051A>G (p.Asp1684Gly)
|
|
|
|
NM_182961.4(SYNE1):c.5058T>C (p.Ser1686=)
|
|
|
|
NM_182961.4(SYNE1):c.5070C>A (p.Val1690=)
|
rs146789107
|
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
|
NM_182961.4(SYNE1):c.509G>T (p.Arg170Leu)
|
rs779239788
|
|
|
NM_182961.4(SYNE1):c.5100+15G>A
|
|
|
|
NM_182961.4(SYNE1):c.5100+19G>A
|
rs901073481
|
|
|
NM_182961.4(SYNE1):c.5100+20A>T
|
|
|
|
NM_182961.4(SYNE1):c.5101-10T>C
|
|
|
|
NM_182961.4(SYNE1):c.5101-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.5105T>C (p.Leu1702Pro)
|
|
|
|
NM_182961.4(SYNE1):c.5138A>T (p.Tyr1713Phe)
|
rs2098338003
|
|
|
NM_182961.4(SYNE1):c.5146C>G (p.Leu1716Val)
|
rs202081505
|
|
|
NM_182961.4(SYNE1):c.514G>T (p.Val172Leu)
|
|
|
|
NM_182961.4(SYNE1):c.5163A>C (p.Glu1721Asp)
|
|
|
|
NM_182961.4(SYNE1):c.5165C>T (p.Ser1722Leu)
|
|
|
|
NM_182961.4(SYNE1):c.521C>G (p.Thr174Ser)
|
|
|
|
NM_182961.4(SYNE1):c.5222A>G (p.Gln1741Arg)
|
|
|
|
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter)
|
rs2154194664
|
|
|
NM_182961.4(SYNE1):c.525G>A (p.Lys175=)
|
|
|
|
NM_182961.4(SYNE1):c.5260A>G (p.Asn1754Asp)
|
rs2154194638
|
|
|
NM_182961.4(SYNE1):c.5267+17A>G
|
|
|
|
NM_182961.4(SYNE1):c.5267+18A>G
|
|
|
|
NM_182961.4(SYNE1):c.5287G>A (p.Val1763Met)
|
|
|
|
NM_182961.4(SYNE1):c.5322G>A (p.Leu1774=)
|
|
|
|
NM_182961.4(SYNE1):c.5346A>G (p.Lys1782=)
|
rs2098221960
|
|
|
NM_182961.4(SYNE1):c.5396A>G (p.His1799Arg)
|
|
|
|
NM_182961.4(SYNE1):c.5412T>A (p.Thr1804=)
|
rs2154186762
|
|
|
NM_182961.4(SYNE1):c.5414G>A (p.Arg1805Gln)
|
rs749200824
|
|
|
NM_182961.4(SYNE1):c.5421+16T>C
|
|
|
|
NM_182961.4(SYNE1):c.5421+8G>A
|
rs750258642
|
|
|
NM_182961.4(SYNE1):c.5421+9del
|
rs774622835
|
|
|
NM_182961.4(SYNE1):c.5422-7C>G
|
|
|
|
NM_182961.4(SYNE1):c.5424C>T (p.Asp1808=)
|
|
|
|
NM_182961.4(SYNE1):c.5461C>G (p.Gln1821Glu)
|
rs1289357494
|
|
|
NM_182961.4(SYNE1):c.5469G>A (p.Leu1823=)
|
|
|
|
NM_182961.4(SYNE1):c.5489T>G (p.Leu1830Trp)
|
rs763296949
|
|
|
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)
|
rs1466752822
|
|
|
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs)
|
rs2154182611
|
|
|
NM_182961.4(SYNE1):c.5539G>A (p.Glu1847Lys)
|
rs778264930
|
|
|
NM_182961.4(SYNE1):c.553T>C (p.Leu185=)
|
rs2099078168
|
|
|
NM_182961.4(SYNE1):c.554T>C (p.Leu185Ser)
|
|
|
|
NM_182961.4(SYNE1):c.5563_5564delinsAT (p.Glu1855Met)
|
rs2154182549
|
|
|
NM_182961.4(SYNE1):c.5587C>A (p.Arg1863=)
|
|
|
|
NM_182961.4(SYNE1):c.5600T>A (p.Leu1867Gln)
|
|
|
|
NM_182961.4(SYNE1):c.561G>T (p.Trp187Cys)
|
rs376693048
|
|
|
NM_182961.4(SYNE1):c.5622C>G (p.Leu1874=)
|
rs1481434570
|
|
|
NM_182961.4(SYNE1):c.5624A>T (p.Gln1875Leu)
|
|
|
|
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
|
|
|
|
NM_182961.4(SYNE1):c.5655C>G (p.Arg1885=)
|
|
|
|
NM_182961.4(SYNE1):c.5658G>C (p.Gln1886His)
|
rs1305356670
|
|
|
NM_182961.4(SYNE1):c.5675A>G (p.Glu1892Gly)
|
rs757761843
|
|
|
NM_182961.4(SYNE1):c.567G>A (p.Gln189=)
|
|
|
|
NM_182961.4(SYNE1):c.5686A>C (p.Ser1896Arg)
|
rs989623011
|
|
|
NM_182961.4(SYNE1):c.5693A>C (p.Asn1898Thr)
|
rs917922270
|
|
|
NM_182961.4(SYNE1):c.5706T>C (p.Ser1902=)
|
|
|
|
NM_182961.4(SYNE1):c.5717A>G (p.Glu1906Gly)
|
rs2154182301
|
|
|
NM_182961.4(SYNE1):c.5721G>A (p.Lys1907=)
|
|
|
|
NM_182961.4(SYNE1):c.5728A>G (p.Asn1910Asp)
|
rs1459660658
|
|
|
NM_182961.4(SYNE1):c.5734G>A (p.Ala1912Thr)
|
|
|
|
NM_182961.4(SYNE1):c.5754A>G (p.Ala1918=)
|
rs1350643988
|
|
|
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp)
|
rs555846215
|
|
|
NM_182961.4(SYNE1):c.5798C>T (p.Ala1933Val)
|
rs2154182197
|
|
|
NM_182961.4(SYNE1):c.5808T>C (p.His1936=)
|
|
|
|
NM_182961.4(SYNE1):c.5809C>A (p.Leu1937Met)
|
rs1384241452
|
|
|
NM_182961.4(SYNE1):c.580A>G (p.Lys194Glu)
|
|
|
|
NM_182961.4(SYNE1):c.581+13A>G
|
|
|
|
NM_182961.4(SYNE1):c.581+15T>A
|
|
|
|
NM_182961.4(SYNE1):c.581+3A>T
|
|
|
|
NM_182961.4(SYNE1):c.581+7A>T
|
|
|
|
NM_182961.4(SYNE1):c.5811G>A (p.Leu1937=)
|
|
|
|
NM_182961.4(SYNE1):c.581A>G (p.Lys194Arg)
|
rs2099078036
|
|
|
NM_182961.4(SYNE1):c.582-12T>C
|
|
|
|
NM_182961.4(SYNE1):c.582-7C>T
|
rs1328050233
|
|
|
NM_182961.4(SYNE1):c.5820G>A (p.Gly1940=)
|
rs773819434
|
|
|
NM_182961.4(SYNE1):c.5828A>G (p.Glu1943Gly)
|
rs963256304
|
|
|
NM_182961.4(SYNE1):c.5834G>A (p.Arg1945Lys)
|
|
|
|
NM_182961.4(SYNE1):c.5848G>A (p.Ala1950Thr)
|
|
|
|
NM_182961.4(SYNE1):c.5852C>T (p.Thr1951Met)
|
|
|
|
NM_182961.4(SYNE1):c.5874G>A (p.Glu1958=)
|
rs2098158523
|
|
|
NM_182961.4(SYNE1):c.5883G>A (p.Arg1961=)
|
rs997152435
|
|
|
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs)
|
rs2098158268
|
|
|
NM_182961.4(SYNE1):c.5910G>A (p.Gln1970=)
|
|
|
|
NM_182961.4(SYNE1):c.5935T>C (p.Leu1979=)
|
rs2098157630
|
|
|
NM_182961.4(SYNE1):c.5943A>G (p.Lys1981=)
|
rs1195163643
|
|
|
NM_182961.4(SYNE1):c.5946A>G (p.Ala1982=)
|
|
|
|
NM_182961.4(SYNE1):c.5951A>G (p.Gln1984Arg)
|
|
|
|
NM_182961.4(SYNE1):c.5965G>C (p.Glu1989Gln)
|
rs2098157118
|
|
|
NM_182961.4(SYNE1):c.5966A>G (p.Glu1989Gly)
|
rs762574786
|
|
|
NM_182961.4(SYNE1):c.5980A>G (p.Ile1994Val)
|
rs2098156852
|
|
|
NM_182961.4(SYNE1):c.5981T>C (p.Ile1994Thr)
|
|
|
|
NM_182961.4(SYNE1):c.5990T>C (p.Ile1997Thr)
|
|
|
|
NM_182961.4(SYNE1):c.6014G>A (p.Arg2005Gln)
|
|
|
|
NM_182961.4(SYNE1):c.6014G>T (p.Arg2005Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6032G>C (p.Arg2011Pro)
|
rs1199419170
|
|
|
NM_182961.4(SYNE1):c.6037G>A (p.Ala2013Thr)
|
|
|
|
NM_182961.4(SYNE1):c.6050+14T>G
|
|
|
|
NM_182961.4(SYNE1):c.6051-13T>C
|
|
|
|
NM_182961.4(SYNE1):c.6051-18T>C
|
|
|
|
NM_182961.4(SYNE1):c.609T>G (p.Phe203Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6105A>G (p.Leu2035=)
|
|
|
|
NM_182961.4(SYNE1):c.6112T>C (p.Leu2038=)
|
|
|
|
NM_182961.4(SYNE1):c.611G>A (p.Gly204Glu)
|
|
|
|
NM_182961.4(SYNE1):c.6128A>T (p.Lys2043Met)
|
rs1015453687
|
|
|
NM_182961.4(SYNE1):c.6128del (p.Lys2043fs)
|
|
|
|
NM_182961.4(SYNE1):c.6145G>A (p.Asp2049Asn)
|
rs774941465
|
|
|
NM_182961.4(SYNE1):c.6147T>C (p.Asp2049=)
|
|
|
|
NM_182961.4(SYNE1):c.6150A>C (p.Val2050=)
|
|
|
|
NM_182961.4(SYNE1):c.6157G>T (p.Ala2053Ser)
|
rs2154176994
|
|
|
NM_182961.4(SYNE1):c.615G>A (p.Lys205=)
|
rs1594201432
|
|
|
NM_182961.4(SYNE1):c.6162T>A (p.Pro2054=)
|
rs2154176982
|
|
|
NM_182961.4(SYNE1):c.6185G>A (p.Arg2062His)
|
|
|
|
NM_182961.4(SYNE1):c.6185G>T (p.Arg2062Leu)
|
rs542032376
|
|
|
NM_182961.4(SYNE1):c.6191A>G (p.Glu2064Gly)
|
|
|
|
NM_182961.4(SYNE1):c.6193G>C (p.Val2065Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6199T>A (p.Trp2067Arg)
|
|
|
|
NM_182961.4(SYNE1):c.6201G>C (p.Trp2067Cys)
|
rs2154176931
|
|
|
NM_182961.4(SYNE1):c.6202G>A (p.Asp2068Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6223C>T (p.His2075Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.6225T>C (p.His2075=)
|
|
|
|
NM_182961.4(SYNE1):c.6230+14C>T
|
|
|
|
NM_182961.4(SYNE1):c.6231T>G (p.Asn2077Lys)
|
rs2097980458
|
|
|
NM_182961.4(SYNE1):c.6234G>A (p.Gln2078=)
|
|
|
|
NM_182961.4(SYNE1):c.624A>G (p.Arg208=)
|
rs2154331618
|
|
|
NM_182961.4(SYNE1):c.6275A>G (p.Gln2092Arg)
|
|
|
|
NM_182961.4(SYNE1):c.6288A>T (p.Ser2096=)
|
rs2154170171
|
|
|
NM_182961.4(SYNE1):c.628G>A (p.Gly210Arg)
|
|
|
|
NM_182961.4(SYNE1):c.6292G>C (p.Val2098Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6294A>G (p.Val2098=)
|
|
|
|
NM_182961.4(SYNE1):c.6332C>T (p.Thr2111Ile)
|
rs760835706
|
|
|
NM_182961.4(SYNE1):c.6349G>A (p.Asp2117Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6349G>T (p.Asp2117Tyr)
|
rs200640405
|
|
|
NM_182961.4(SYNE1):c.6357G>A (p.Glu2119=)
|
|
|
|
NM_182961.4(SYNE1):c.6358G>A (p.Asp2120Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6363T>C (p.Leu2121=)
|
|
|
|
NM_182961.4(SYNE1):c.6370G>T (p.Ala2124Ser)
|
|
|
|
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs)
|
rs2154170060
|
|
|
NM_182961.4(SYNE1):c.6398A>G (p.Asn2133Ser)
|
|
|
|
NM_182961.4(SYNE1):c.639del (p.His214fs)
|
rs1412791793
|
|
|
NM_182961.4(SYNE1):c.6412A>G (p.Lys2138Glu)
|
rs2097962380
|
|
|
NM_182961.4(SYNE1):c.6415C>A (p.Gln2139Lys)
|
|
|
|
NM_182961.4(SYNE1):c.6417G>A (p.Gln2139=)
|
|
|
|
NM_182961.4(SYNE1):c.6421G>T (p.Asp2141Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.6432C>T (p.Asn2144=)
|
|
|
|
NM_182961.4(SYNE1):c.6444A>C (p.Lys2148Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6461C>T (p.Ser2154Phe)
|
|
|
|
NM_182961.4(SYNE1):c.6478C>T (p.His2160Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.647T>C (p.Val216Ala)
|
rs1564513288
|
|
|
NM_182961.4(SYNE1):c.6480C>T (p.His2160=)
|
|
|
|
NM_182961.4(SYNE1):c.6482G>A (p.Ser2161Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6487G>A (p.Asp2163Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6526G>A (p.Asp2176Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6540+14del
|
|
|
|
NM_182961.4(SYNE1):c.6540+15T>C
|
|
|
|
NM_182961.4(SYNE1):c.6540+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.6541-12T>A
|
rs2097913765
|
|
|
NM_182961.4(SYNE1):c.6555T>C (p.Leu2185=)
|
|
|
|
NM_182961.4(SYNE1):c.6560A>G (p.Glu2187Gly)
|
rs886061211
|
|
|
NM_182961.4(SYNE1):c.6586C>T (p.Leu2196=)
|
|
|
|
NM_182961.4(SYNE1):c.6588G>A (p.Leu2196=)
|
|
|
|
NM_182961.4(SYNE1):c.658A>C (p.Ile220Leu)
|
rs146053885
|
|
|
NM_182961.4(SYNE1):c.6606A>G (p.Val2202=)
|
rs2154165470
|
|
|
NM_182961.4(SYNE1):c.661C>A (p.Arg221=)
|
rs750266004
|
|
|
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter)
|
rs1417491327
|
|
|
NM_182961.4(SYNE1):c.6636G>T (p.Trp2212Cys)
|
rs2154165420
|
|
|
NM_182961.4(SYNE1):c.6642C>T (p.Asn2214=)
|
|
|
|
NM_182961.4(SYNE1):c.6645C>T (p.Asn2215=)
|
rs1193871694
|
|
|
NM_182961.4(SYNE1):c.6646T>A (p.Cys2216Ser)
|
|
|
|
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser)
|
rs2099051828
|
|
|
NM_182961.4(SYNE1):c.6658A>G (p.Met2220Val)
|
rs2097912504
|
|
|
NM_182961.4(SYNE1):c.665C>T (p.Pro222Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6661G>A (p.Ala2221Thr)
|
rs2154165359
|
|
|
NM_182961.4(SYNE1):c.6680T>A (p.Leu2227Gln)
|
|
|
|
NM_182961.4(SYNE1):c.669A>G (p.Glu223=)
|
rs1294047431
|
|
|
NM_182961.4(SYNE1):c.67+2T>A
|
rs762743107
|
|
|
NM_182961.4(SYNE1):c.67+8G>A
|
|
|
|
NM_182961.4(SYNE1):c.6719T>C (p.Phe2240Ser)
|
|
|
|
NM_182961.4(SYNE1):c.6723+20A>G
|
|
|
|
NM_182961.4(SYNE1):c.672G>A (p.Leu224=)
|
rs2099051768
|
|
|
NM_182961.4(SYNE1):c.6738C>A (p.Asn2246Lys)
|
|
|
|
NM_182961.4(SYNE1):c.6739A>G (p.Lys2247Glu)
|
rs1374881204
|
|
|
NM_182961.4(SYNE1):c.6745T>C (p.Leu2249=)
|
rs1563754171
|
|
|
NM_182961.4(SYNE1):c.6752T>G (p.Leu2251Trp)
|
|
|
|
NM_182961.4(SYNE1):c.6794C>T (p.Thr2265Ile)
|
|
|
|
NM_182961.4(SYNE1):c.6795T>C (p.Thr2265=)
|
rs2154157073
|
|
|
NM_182961.4(SYNE1):c.68-14C>A
|
rs554675581
|
|
|
NM_182961.4(SYNE1):c.68-19G>T
|
|
|
|
NM_182961.4(SYNE1):c.6811C>G (p.Pro2271Ala)
|
|
|
|
NM_182961.4(SYNE1):c.6813G>C (p.Pro2271=)
|
|
|
|
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe)
|
rs867285350
|
|
|
NM_182961.4(SYNE1):c.6825+19C>G
|
|
|
|
NM_182961.4(SYNE1):c.6826-7T>C
|
|
|
|
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter)
|
rs2154151091
|
|
|
NM_182961.4(SYNE1):c.6894C>A (p.Thr2298=)
|
rs1554629711
|
|
|
NM_182961.4(SYNE1):c.6895C>G (p.Leu2299Val)
|
|
|
|
NM_182961.4(SYNE1):c.6897G>A (p.Leu2299=)
|
|
|
|
NM_182961.4(SYNE1):c.68A>T (p.Asp23Val)
|
|
|
|
NM_182961.4(SYNE1):c.6900G>T (p.Lys2300Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6907A>G (p.Thr2303Ala)
|
|
|
|
NM_182961.4(SYNE1):c.6913C>A (p.Gln2305Lys)
|
|
|
|
NM_182961.4(SYNE1):c.6921A>C (p.Thr2307=)
|
rs898678358
|
|
|
NM_182961.4(SYNE1):c.6926T>C (p.Val2309Ala)
|
rs1384232957
|
|
|
NM_182961.4(SYNE1):c.6937A>G (p.Ile2313Val)
|
rs2154150998
|
|
|
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly)
|
rs1395736433
|
|
|
NM_182961.4(SYNE1):c.6959T>C (p.Phe2320Ser)
|
rs2097810439
|
|
|
NM_182961.4(SYNE1):c.696C>A (p.Gly232=)
|
|
|
|
NM_182961.4(SYNE1):c.6975A>G (p.Glu2325=)
|
|
|
|
NM_182961.4(SYNE1):c.6975A>T (p.Glu2325Asp)
|
|
|
|
NM_182961.4(SYNE1):c.6978G>A (p.Ser2326=)
|
|
|
|
NM_182961.4(SYNE1):c.6982A>G (p.Met2328Val)
|
rs1250755900
|
|
|
NM_182961.4(SYNE1):c.6983T>C (p.Met2328Thr)
|
rs1317403604
|
|
|
NM_182961.4(SYNE1):c.69T>A (p.Asp23Glu)
|
rs1564735123
|
|
|
NM_182961.4(SYNE1):c.7017G>A (p.Leu2339=)
|
|
|
|
NM_182961.4(SYNE1):c.7023A>T (p.Lys2341Asn)
|
|
|
|
NM_182961.4(SYNE1):c.7029+12A>G
|
|
|
|
NM_182961.4(SYNE1):c.7029+18A>G
|
|
|
|
NM_182961.4(SYNE1):c.7029+19T>C
|
|
|
|
NM_182961.4(SYNE1):c.7029G>T (p.Lys2343Asn)
|
|
|
|
NM_182961.4(SYNE1):c.7030-14C>G
|
|
|
|
NM_182961.4(SYNE1):c.7030-14C>T
|
rs1257361080
|
|
|
NM_182961.4(SYNE1):c.7032T>C (p.Asp2344=)
|
|
|
|
NM_182961.4(SYNE1):c.7041A>G (p.Lys2347=)
|
rs1035633192
|
|
|
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)
|
rs2154331501
|
|
|
NM_182961.4(SYNE1):c.707G>A (p.Arg236Gln)
|
|
|
|
NM_182961.4(SYNE1):c.7091A>G (p.Asn2364Ser)
|
rs776339735
|
|
|
NM_182961.4(SYNE1):c.7104C>G (p.Arg2368=)
|
|
|
|
NM_182961.4(SYNE1):c.7109A>G (p.Tyr2370Cys)
|
|
|
|
NM_182961.4(SYNE1):c.7110C>T (p.Tyr2370=)
|
|
|
|
NM_182961.4(SYNE1):c.7131C>T (p.Ser2377=)
|
|
|
|
NM_182961.4(SYNE1):c.7141G>T (p.Ala2381Ser)
|
rs766789322
|
|
|
NM_182961.4(SYNE1):c.7156A>T (p.Ile2386Leu)
|
|
|
|
NM_182961.4(SYNE1):c.7165C>T (p.His2389Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.7181A>C (p.Gln2394Pro)
|
rs1244195756
|
|
|
NM_182961.4(SYNE1):c.7201G>A (p.Ala2401Thr)
|
rs780924006
|
|
|
NM_182961.4(SYNE1):c.7237+14G>A
|
|
|
|
NM_182961.4(SYNE1):c.7237+16C>A
|
|
|
|
NM_182961.4(SYNE1):c.7237+17del
|
|
|
|
NM_182961.4(SYNE1):c.7238-9T>C
|
rs1591882273
|
|
|
NM_182961.4(SYNE1):c.723T>C (p.Asp241=)
|
|
|
|
NM_182961.4(SYNE1):c.7261T>C (p.Trp2421Arg)
|
|
|
|
NM_182961.4(SYNE1):c.7280C>T (p.Ala2427Val)
|
rs2097770762
|
|
|
NM_182961.4(SYNE1):c.7284A>C (p.Ala2428=)
|
rs886043162
|
|
|
NM_182961.4(SYNE1):c.7296A>G (p.Ser2432=)
|
|
|
|
NM_182961.4(SYNE1):c.7303C>G (p.Arg2435Gly)
|
rs370082646
|
|
|
NM_182961.4(SYNE1):c.7312G>T (p.Asp2438Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.7334A>C (p.Lys2445Thr)
|
rs2154145830
|
|
|
NM_182961.4(SYNE1):c.7335G>C (p.Lys2445Asn)
|
rs770329883
|
|
|
NM_182961.4(SYNE1):c.7345C>T (p.Leu2449Phe)
|
rs757562714
|
|
|
NM_182961.4(SYNE1):c.7350+15A>T
|
|
|
|
NM_182961.4(SYNE1):c.735C>T (p.Ile245=)
|
|
|
|
NM_182961.4(SYNE1):c.7365A>G (p.Ser2455=)
|
rs761520305
|
|
|
NM_182961.4(SYNE1):c.7392T>G (p.Asp2464Glu)
|
|
|
|
NM_182961.4(SYNE1):c.739G>A (p.Glu247Lys)
|
|
|
|
NM_182961.4(SYNE1):c.7402C>G (p.Gln2468Glu)
|
rs1384323646
|
|
|
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
|
|
|
|
NM_182961.4(SYNE1):c.7406A>G (p.Glu2469Gly)
|
rs371796151
|
|
|
NM_182961.4(SYNE1):c.742A>G (p.Thr248Ala)
|
rs2154331462
|
|
|
NM_182961.4(SYNE1):c.7462C>G (p.Gln2488Glu)
|
rs756083446
|
|
|
NM_182961.4(SYNE1):c.7488T>C (p.Phe2496=)
|
|
|
|
NM_182961.4(SYNE1):c.7494A>G (p.Ala2498=)
|
|
|
|
NM_182961.4(SYNE1):c.7502A>C (p.Lys2501Thr)
|
|
|
|
NM_182961.4(SYNE1):c.7550T>A (p.Leu2517His)
|
|
|
|
NM_182961.4(SYNE1):c.7556+15C>T
|
|
|
|
NM_182961.4(SYNE1):c.7557-18G>A
|
|
|
|
NM_182961.4(SYNE1):c.7569G>A (p.Gln2523=)
|
|
|
|
NM_182961.4(SYNE1):c.756C>A (p.Ile252=)
|
rs1241383804
|
|
|
NM_182961.4(SYNE1):c.7593C>T (p.Ile2531=)
|
rs201679896
|
|
|
NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met)
|
rs550027519
|
|
|
NM_182961.4(SYNE1):c.7642C>T (p.Gln2548Ter)
|
|
|
|
NM_182961.4(SYNE1):c.7644G>C (p.Gln2548His)
|
rs2097719630
|
|
|
NM_182961.4(SYNE1):c.7666G>A (p.Glu2556Lys)
|
rs2154141021
|
|
|
NM_182961.4(SYNE1):c.7672C>A (p.His2558Asn)
|
rs2097719253
|
|
|
NM_182961.4(SYNE1):c.7685T>C (p.Met2562Thr)
|
|
|
|
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
|
|
|
|
NM_182961.4(SYNE1):c.7707T>C (p.Ala2569=)
|
|
|
|
NM_182961.4(SYNE1):c.7709C>G (p.Ala2570Gly)
|
|
|
|
NM_182961.4(SYNE1):c.7713-10T>C
|
rs2154134126
|
|
|
NM_182961.4(SYNE1):c.7713-11C>T
|
rs201131946
|
|
|
NM_182961.4(SYNE1):c.7713-12_7713-11del
|
|
|
|
NM_182961.4(SYNE1):c.7713-12_7713-11delinsTTTTTTTCT
|
rs764324594
|
|
|
NM_182961.4(SYNE1):c.7713-12_7713-11insTTTTTTTT
|
|
|
|
NM_182961.4(SYNE1):c.7713-13_7713-12insTTTTTTC
|
|
|
|
NM_182961.4(SYNE1):c.7713-17_7713-13dup
|
|
|
|
NM_182961.4(SYNE1):c.7713-17_7713-16insTTTTTTC
|
|
|
|
NM_182961.4(SYNE1):c.7713-18_7713-13dup
|
rs756232172
|
|
|
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTC
|
rs1554611398
|
|
|
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTTC
|
rs746802599
|
|
|
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTTTC
|
rs2097634535
|
|
|
NM_182961.4(SYNE1):c.7713-19_7713-13dup
|
rs756232172
|
|
|
NM_182961.4(SYNE1):c.7713-19_7713-18insTTTTTTC
|
rs781073860
|
|
|
NM_182961.4(SYNE1):c.7713-23_7713-13dup
|
rs756232172
|
|
|
NM_182961.4(SYNE1):c.7713-4T>A
|
rs571742202
|
|
|
NM_182961.4(SYNE1):c.7713-5T>C
|
rs893217390
|
|
|
NM_182961.4(SYNE1):c.7713-5_7713-4del
|
|
|
|
NM_182961.4(SYNE1):c.7719T>G (p.Ser2573=)
|
|
|
|
NM_182961.4(SYNE1):c.7724A>T (p.Asp2575Val)
|
rs1382595953
|
|
|
NM_182961.4(SYNE1):c.7754G>C (p.Ser2585Thr)
|
|
|
|
NM_182961.4(SYNE1):c.7778A>T (p.Gln2593Leu)
|
rs761902124
|
|
|
NM_182961.4(SYNE1):c.778+12A>G
|
|
|
|
NM_182961.4(SYNE1):c.778+13T>G
|
rs775117869
|
|
|
NM_182961.4(SYNE1):c.778+17T>C
|
rs2154331395
|
|
|
NM_182961.4(SYNE1):c.7781A>G (p.Glu2594Gly)
|
rs1591742558
|
|
|
NM_182961.4(SYNE1):c.779-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.779-11dup
|
rs769649801
|
|
|
NM_182961.4(SYNE1):c.779-17C>A
|
|
|
|
NM_182961.4(SYNE1):c.779-4dup
|
rs567435072
|
|
|
NM_182961.4(SYNE1):c.7801C>G (p.Leu2601Val)
|
|
|
|
NM_182961.4(SYNE1):c.7814A>G (p.His2605Arg)
|
rs2097627280
|
|
|
NM_182961.4(SYNE1):c.7853G>A (p.Ser2618Asn)
|
|
|
|
NM_182961.4(SYNE1):c.7858C>A (p.Gln2620Lys)
|
|
|
|
NM_182961.4(SYNE1):c.7866C>G (p.Ala2622=)
|
|
|
|
NM_182961.4(SYNE1):c.7870C>G (p.Gln2624Glu)
|
|
|
|
NM_182961.4(SYNE1):c.7878C>A (p.His2626Gln)
|
|
|
|
NM_182961.4(SYNE1):c.7885C>G (p.Leu2629Val)
|
|
|
|
NM_182961.4(SYNE1):c.7946G>C (p.Cys2649Ser)
|
|
|
|
NM_182961.4(SYNE1):c.7951G>A (p.Glu2651Lys)
|
rs147040672
|
|
|
NM_182961.4(SYNE1):c.7965G>A (p.Gly2655=)
|
|
|
|
NM_182961.4(SYNE1):c.7971A>G (p.Lys2657=)
|
|
|
|
NM_182961.4(SYNE1):c.7977C>A (p.Thr2659=)
|
rs1032522783
|
|
|
NM_182961.4(SYNE1):c.7980G>A (p.Leu2660=)
|
|
|
|
NM_182961.4(SYNE1):c.7988G>A (p.Arg2663Gln)
|
rs370644295
|
|
|
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys)
|
rs577888458
|
|
|
NM_182961.4(SYNE1):c.8003A>G (p.Gln2668Arg)
|
rs2154133685
|
|
|
NM_182961.4(SYNE1):c.8004+16G>A
|
|
|
|
NM_182961.4(SYNE1):c.8004+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.8005-7_8005-6insA
|
|
|
|
NM_182961.4(SYNE1):c.8014C>G (p.Leu2672Val)
|
rs1563634104
|
|
|
NM_182961.4(SYNE1):c.8025T>G (p.Gly2675=)
|
|
|
|
NM_182961.4(SYNE1):c.8046T>C (p.Asn2682=)
|
|
|
|
NM_182961.4(SYNE1):c.8051C>T (p.Ala2684Val)
|
|
|
|
NM_182961.4(SYNE1):c.8063G>A (p.Gly2688Glu)
|
|
|
|
NM_182961.4(SYNE1):c.8065G>A (p.Glu2689Lys)
|
rs766019755
|
|
|
NM_182961.4(SYNE1):c.8065G>C (p.Glu2689Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
|
|
|
|
NM_182961.4(SYNE1):c.8069A>C (p.Gln2690Pro)
|
rs1591716331
|
|
|
NM_182961.4(SYNE1):c.8098C>G (p.Gln2700Glu)
|
rs2097590125
|
|
|
NM_182961.4(SYNE1):c.8124G>C (p.Glu2708Asp)
|
rs886061208
|
|
|
NM_182961.4(SYNE1):c.8147A>G (p.Asp2716Gly)
|
|
|
|
NM_182961.4(SYNE1):c.8151C>G (p.Ile2717Met)
|
|
|
|
NM_182961.4(SYNE1):c.8152A>G (p.Met2718Val)
|
rs765054617
|
|
|
NM_182961.4(SYNE1):c.8172T>C (p.Ala2724=)
|
|
|
|
NM_182961.4(SYNE1):c.8177+12A>G
|
|
|
|
NM_182961.4(SYNE1):c.8178-4C>T
|
|
|
|
NM_182961.4(SYNE1):c.8204G>T (p.Trp2735Leu)
|
|
|
|
NM_182961.4(SYNE1):c.8210A>G (p.Asp2737Gly)
|
rs886044469
|
|
|
NM_182961.4(SYNE1):c.8214T>C (p.Tyr2738=)
|
rs561155086
|
|
|
NM_182961.4(SYNE1):c.821A>G (p.Tyr274Cys)
|
rs2099036274
|
|
|
NM_182961.4(SYNE1):c.8233T>A (p.Leu2745Met)
|
|
|
|
NM_182961.4(SYNE1):c.8248G>A (p.Glu2750Lys)
|
|
|
|
NM_182961.4(SYNE1):c.8276C>T (p.Pro2759Leu)
|
rs1438857220
|
|
|
NM_182961.4(SYNE1):c.8285C>A (p.Pro2762Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)
|
rs946657984
|
|
|
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=)
|
rs749172868
|
|
|
NM_182961.4(SYNE1):c.8325C>A (p.His2775Gln)
|
rs770073509
|
|
|
NM_182961.4(SYNE1):c.8328C>G (p.Leu2776=)
|
|
|
|
NM_182961.4(SYNE1):c.832T>A (p.Phe278Ile)
|
|
|
|
NM_182961.4(SYNE1):c.8360C>G (p.Thr2787Arg)
|
|
|
|
NM_182961.4(SYNE1):c.8389T>G (p.Ser2797Ala)
|
|
|
|
NM_182961.4(SYNE1):c.8394G>A (p.Arg2798=)
|
rs1212269934
|
|
|
NM_182961.4(SYNE1):c.83T>G (p.Val28Gly)
|
rs1554878579
|
|
|
NM_182961.4(SYNE1):c.8401T>C (p.Tyr2801His)
|
|
|
|
NM_182961.4(SYNE1):c.8412A>G (p.Thr2804=)
|
rs1352615188
|
|
|
NM_182961.4(SYNE1):c.8415G>A (p.Glu2805=)
|
rs200537411
|
|
|
NM_182961.4(SYNE1):c.8468A>T (p.Asp2823Val)
|
|
|
|
NM_182961.4(SYNE1):c.8470A>T (p.Ile2824Leu)
|
|
|
|
NM_182961.4(SYNE1):c.8487+6T>C
|
rs2097536510
|
|
|
NM_182961.4(SYNE1):c.8488-15T>C
|
rs754541640
|
|
|
NM_182961.4(SYNE1):c.8488-5A>T
|
|
|
|
NM_182961.4(SYNE1):c.8531T>A (p.Met2844Lys)
|
rs577620830
|
|
|
NM_182961.4(SYNE1):c.8543C>T (p.Ala2848Val)
|
|
|
|
NM_182961.4(SYNE1):c.8544G>A (p.Ala2848=)
|
rs776642978
|
|
|
NM_182961.4(SYNE1):c.8544G>T (p.Ala2848=)
|
|
|
|
NM_182961.4(SYNE1):c.8555T>A (p.Phe2852Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.8559A>G (p.Thr2853=)
|
rs2154124074
|
|
|
NM_182961.4(SYNE1):c.8570A>G (p.His2857Arg)
|
|
|
|
NM_182961.4(SYNE1):c.8580G>A (p.Lys2860=)
|
rs2154124018
|
|
|
NM_182961.4(SYNE1):c.8593C>G (p.Arg2865Gly)
|
rs757720748
|
|
|
NM_182961.4(SYNE1):c.8594G>A (p.Arg2865Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8595G>C (p.Arg2865=)
|
|
|
|
NM_182961.4(SYNE1):c.8609C>T (p.Ser2870Phe)
|
rs2097516831
|
|
|
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs)
|
rs2097516516
|
|
|
NM_182961.4(SYNE1):c.8640A>G (p.Leu2880=)
|
|
|
|
NM_182961.4(SYNE1):c.8652+3C>T
|
|
|
|
NM_182961.4(SYNE1):c.8652+9A>T
|
|
|
|
NM_182961.4(SYNE1):c.8653-17G>A
|
|
|
|
NM_182961.4(SYNE1):c.8657T>A (p.Leu2886Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8663A>T (p.Asp2888Val)
|
rs1184722528
|
|
|
NM_182961.4(SYNE1):c.8701G>A (p.Glu2901Lys)
|
|
|
|
NM_182961.4(SYNE1):c.8705C>G (p.Ser2902Trp)
|
rs576979843
|
|
|
NM_182961.4(SYNE1):c.8706G>A (p.Ser2902=)
|
|
|
|
NM_182961.4(SYNE1):c.870T>C (p.Thr290=)
|
|
|
|
NM_182961.4(SYNE1):c.8715C>T (p.Pro2905=)
|
|
|
|
NM_182961.4(SYNE1):c.8719G>T (p.Val2907Leu)
|
|
|
|
NM_182961.4(SYNE1):c.8730C>T (p.Asn2910=)
|
rs1591551475
|
|
|
NM_182961.4(SYNE1):c.8733A>T (p.Thr2911=)
|
|
|
|
NM_182961.4(SYNE1):c.8754C>T (p.Leu2918=)
|
|
|
|
NM_182961.4(SYNE1):c.8773G>T (p.Ala2925Ser)
|
|
|
|
NM_182961.4(SYNE1):c.8779C>G (p.Arg2927Gly)
|
rs372633466
|
|
|
NM_182961.4(SYNE1):c.8779C>T (p.Arg2927Cys)
|
rs372633466
|
|
|
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter)
|
rs2154115529
|
|
|
NM_182961.4(SYNE1):c.8819C>T (p.Thr2940Met)
|
|
|
|
NM_182961.4(SYNE1):c.8825G>C (p.Ser2942Thr)
|
rs2154115485
|
|
|
NM_182961.4(SYNE1):c.8838C>T (p.Asn2946=)
|
rs2154115463
|
|
|
NM_182961.4(SYNE1):c.888+2T>C
|
|
|
|
NM_182961.4(SYNE1):c.888+4G>A
|
rs749258298
|
|
|
NM_182961.4(SYNE1):c.888+9T>C
|
|
|
|
NM_182961.4(SYNE1):c.8882A>G (p.Gln2961Arg)
|
rs1366579684
|
|
|
NM_182961.4(SYNE1):c.8883A>G (p.Gln2961=)
|
|
|
|
NM_182961.4(SYNE1):c.8884G>C (p.Val2962Leu)
|
rs2097406538
|
|
|
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
|
rs750544827
|
|
|
NM_182961.4(SYNE1):c.8888C>A (p.Ala2963Asp)
|
rs570962334
|
|
|
NM_182961.4(SYNE1):c.8893C>T (p.Leu2965=)
|
|
|
|
NM_182961.4(SYNE1):c.8914T>A (p.Phe2972Ile)
|
|
|
|
NM_182961.4(SYNE1):c.892A>G (p.Ile298Val)
|
rs2154319036
|
|
|
NM_182961.4(SYNE1):c.8957T>C (p.Leu2986Pro)
|
|
|
|
NM_182961.4(SYNE1):c.8983A>T (p.Ile2995Leu)
|
|
|
|
NM_182961.4(SYNE1):c.898C>A (p.Pro300Thr)
|
|
|
|
NM_182961.4(SYNE1):c.898C>T (p.Pro300Ser)
|
|
|
|
NM_182961.4(SYNE1):c.9006A>G (p.Gly3002=)
|
|
|
|
NM_182961.4(SYNE1):c.9009+12T>C
|
|
|
|
NM_182961.4(SYNE1):c.9009+1G>A
|
|
|
|
NM_182961.4(SYNE1):c.9009+5G>T
|
rs1252397404
|
|
|
NM_182961.4(SYNE1):c.9016C>G (p.Leu3006Val)
|
|
|
|
NM_182961.4(SYNE1):c.9052G>T (p.Asp3018Tyr)
|
rs910446340
|
|
|
NM_182961.4(SYNE1):c.9074A>T (p.Glu3025Val)
|
rs1591451162
|
|
|
NM_182961.4(SYNE1):c.9082C>A (p.Arg3028=)
|
rs369163343
|
|
|
NM_182961.4(SYNE1):c.9083G>A (p.Arg3028Gln)
|
|
|
|
NM_182961.4(SYNE1):c.9124G>A (p.Gly3042Ser)
|
rs1554580101
|
|
|
NM_182961.4(SYNE1):c.9147-15G>T
|
|
|
|
NM_182961.4(SYNE1):c.9160G>A (p.Ala3054Thr)
|
rs2154103548
|
|
|
NM_182961.4(SYNE1):c.916G>A (p.Ala306Thr)
|
|
|
|
NM_182961.4(SYNE1):c.9170G>T (p.Gly3057Val)
|
rs761071366
|
|
|
NM_182961.4(SYNE1):c.9177G>A (p.Gln3059=)
|
|
|
|
NM_182961.4(SYNE1):c.9178A>G (p.Asn3060Asp)
|
|
|
|
NM_182961.4(SYNE1):c.9183A>G (p.Lys3061=)
|
|
|
|
NM_182961.4(SYNE1):c.9209G>A (p.Arg3070Gln)
|
|
|
|
NM_182961.4(SYNE1):c.9214G>A (p.Ala3072Thr)
|
|
|
|
NM_182961.4(SYNE1):c.9220A>G (p.Arg3074Gly)
|
rs2097283597
|
|
|
NM_182961.4(SYNE1):c.9243T>A (p.Val3081=)
|
|
|
|
NM_182961.4(SYNE1):c.9250A>G (p.Lys3084Glu)
|
rs1391282600
|
|
|
NM_182961.4(SYNE1):c.9261C>A (p.Thr3087=)
|
|
|
|
NM_182961.4(SYNE1):c.9289A>G (p.Ile3097Val)
|
rs2154103329
|
|
|
NM_182961.4(SYNE1):c.9304A>C (p.Thr3102Pro)
|
|
|
|
NM_182961.4(SYNE1):c.9309T>C (p.Ser3103=)
|
|
|
|
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
|
|
|
|
NM_182961.4(SYNE1):c.9324+20A>T
|
|
|
|
NM_182961.4(SYNE1):c.9324+7G>T
|
rs2097282528
|
|
|
NM_182961.4(SYNE1):c.9325-10T>C
|
|
|
|
NM_182961.4(SYNE1):c.9325-4A>G
|
rs1444975317
|
|
|
NM_182961.4(SYNE1):c.9333G>T (p.Leu3111Phe)
|
|
|
|
NM_182961.4(SYNE1):c.9337G>C (p.Glu3113Gln)
|
rs2154097171
|
|
|
NM_182961.4(SYNE1):c.9347A>T (p.Asn3116Ile)
|
|
|
|
NM_182961.4(SYNE1):c.9357C>T (p.His3119=)
|
|
|
|
NM_182961.4(SYNE1):c.9374T>C (p.Leu3125Pro)
|
rs1563477104
|
|
|
NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=)
|
rs376622495
|
|
|
NM_182961.4(SYNE1):c.9382G>A (p.Gly3128Arg)
|
|
|
|
NM_182961.4(SYNE1):c.9389T>A (p.Leu3130His)
|
|
|
|
NM_182961.4(SYNE1):c.939+14A>T
|
rs531123529
|
|
|
NM_182961.4(SYNE1):c.939+15A>C
|
|
|
|
NM_182961.4(SYNE1):c.9394A>T (p.Ser3132Cys)
|
rs138481762
|
|
|
NM_182961.4(SYNE1):c.9399C>A (p.Thr3133=)
|
|
|
|
NM_182961.4(SYNE1):c.940-4C>T
|
|
|
|
NM_182961.4(SYNE1):c.9411A>G (p.Lys3137=)
|
rs975537862
|
|
|
NM_182961.4(SYNE1):c.9417A>G (p.Lys3139=)
|
|
|
|
NM_182961.4(SYNE1):c.941G>T (p.Arg314Ile)
|
rs1554795128
|
|
|
NM_182961.4(SYNE1):c.9449C>G (p.Ala3150Gly)
|
|
|
|
NM_182961.4(SYNE1):c.9450A>G (p.Ala3150=)
|
|
|
|
NM_182961.4(SYNE1):c.9469T>C (p.Phe3157Leu)
|
|
|
|
NM_182961.4(SYNE1):c.946G>A (p.Asp316Asn)
|
rs369574011
|
|
|
NM_182961.4(SYNE1):c.9480T>C (p.Asn3160=)
|
|
|
|
NM_182961.4(SYNE1):c.9483C>T (p.Leu3161=)
|
rs778123025
|
|
|
NM_182961.4(SYNE1):c.9484C>T (p.His3162Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.948C>G (p.Asp316Glu)
|
|
|
|
NM_182961.4(SYNE1):c.9494_9495delinsTG (p.Glu3165Val)
|
|
|
|
NM_182961.4(SYNE1):c.9495A>C (p.Glu3165Asp)
|
rs6913579
|
|
|
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)
|
rs6913579
|
|
|
NM_182961.4(SYNE1):c.9507+7A>G
|
|
|
|
NM_182961.4(SYNE1):c.9508-12A>G
|
|
|
|
NM_182961.4(SYNE1):c.9508-16A>G
|
|
|
|
NM_182961.4(SYNE1):c.9508-20C>T
|
|
|
|
NM_182961.4(SYNE1):c.9508-4G>A
|
|
|
|
NM_182961.4(SYNE1):c.9514A>G (p.Lys3172Glu)
|
rs2154085901
|
|
|
NM_182961.4(SYNE1):c.9524T>C (p.Met3175Thr)
|
|
|
|
NM_182961.4(SYNE1):c.9543T>G (p.Ser3181Arg)
|
|
|
|
NM_182961.4(SYNE1):c.9544_9545delinsAA (p.Ala3182Asn)
|
rs1057519421
|
|
|
NM_182961.4(SYNE1):c.955A>G (p.Ile319Val)
|
|
|
|
NM_182961.4(SYNE1):c.9572A>T (p.Lys3191Ile)
|
rs1563437567
|
|
|
NM_182961.4(SYNE1):c.9586G>A (p.Val3196Ile)
|
|
|
|
NM_182961.4(SYNE1):c.9596G>T (p.Ser3199Ile)
|
rs768692140
|
|
|
NM_182961.4(SYNE1):c.9609C>T (p.Leu3203=)
|
rs1591297339
|
|
|
NM_182961.4(SYNE1):c.9611A>G (p.Tyr3204Cys)
|
|
|
|
NM_182961.4(SYNE1):c.9612T>C (p.Tyr3204=)
|
rs1030698096
|
|
|
NM_182961.4(SYNE1):c.9634G>A (p.Glu3212Lys)
|
|
|
|
NM_182961.4(SYNE1):c.9634G>C (p.Glu3212Gln)
|
rs751257864
|
|
|
NM_182961.4(SYNE1):c.9645G>A (p.Lys3215=)
|
|
|
|
NM_182961.4(SYNE1):c.9649C>A (p.Gln3217Lys)
|
rs2154085638
|
|
|
NM_182961.4(SYNE1):c.9651+15T>G
|
|
|
|
NM_182961.4(SYNE1):c.9652-15G>T
|
|
|
|
NM_182961.4(SYNE1):c.9652-18C>T
|
|
|
|
NM_182961.4(SYNE1):c.9652-8C>T
|
|
|
|
NM_182961.4(SYNE1):c.9670C>G (p.His3224Asp)
|
|
|
|
NM_182961.4(SYNE1):c.9676T>C (p.Tyr3226His)
|
|
|
|
NM_182961.4(SYNE1):c.9678C>T (p.Tyr3226=)
|
|
|
|
NM_182961.4(SYNE1):c.9679G>C (p.Glu3227Gln)
|
rs1024177161
|
|
|
NM_182961.4(SYNE1):c.9682C>T (p.Pro3228Ser)
|
rs1563432555
|
|
|
NM_182961.4(SYNE1):c.9695G>A (p.Arg3232Lys)
|
|
|
|
NM_182961.4(SYNE1):c.9697C>T (p.Leu3233=)
|
|
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
|
NM_182961.4(SYNE1):c.9733G>T (p.Ala3245Ser)
|
rs753548717
|
|
|
NM_182961.4(SYNE1):c.9744G>A (p.Lys3248=)
|
rs2097133437
|
|
|
NM_182961.4(SYNE1):c.9746G>A (p.Ser3249Asn)
|
rs886061206
|
|
|
NM_182961.4(SYNE1):c.9746G>C (p.Ser3249Thr)
|
rs886061206
|
|
|
NM_182961.4(SYNE1):c.9765G>T (p.Ser3255=)
|
rs759631028
|
|
|
NM_182961.4(SYNE1):c.9797A>G (p.Asn3266Ser)
|
|
|
|
NM_182961.4(SYNE1):c.9807+7C>T
|
|
|
|
NM_182961.4(SYNE1):c.9808-16T>C
|
|
|
|
NM_182961.4(SYNE1):c.9808-17A>G
|
|
|
|
NM_182961.4(SYNE1):c.9822A>G (p.Arg3274=)
|
|
|
|
NM_182961.4(SYNE1):c.9847A>T (p.Asn3283Tyr)
|
rs745707616
|
|
|
NM_182961.4(SYNE1):c.9864G>A (p.Gly3288=)
|
rs1591250414
|
|
|
NM_182961.4(SYNE1):c.9864G>C (p.Gly3288=)
|
|
|
|
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=)
|
rs184006845
|
|
|
NM_182961.4(SYNE1):c.9903C>T (p.His3301=)
|
rs767709050
|
|
|
NM_182961.4(SYNE1):c.9925C>A (p.Pro3309Thr)
|
rs1247321590
|
|
|
NM_182961.4(SYNE1):c.9966G>A (p.Lys3322=)
|
|
|
|
NM_182961.4(SYNE1):c.9972+16C>T
|
|
|
|
NM_182961.4(SYNE1):c.9978A>G (p.Leu3326=)
|
rs1286630366
|
|
|
NM_182961.4(SYNE1):c.998A>G (p.Asp333Gly)
|
rs2154300492
|
|
|
NM_182961.4(SYNE1):c.9990A>G (p.Lys3330=)
|
|
|