ClinVar Miner

List of variants reported as benign for autosomal dominant Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 691
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HGVS dbSNP
NM_001282625.2(LMNA):c.-206-17C>T
NM_015180.5(SYNE2):c.12001_12002inv (p.Trp4001Gln)
NM_033071.3(SYNE1):c.*750G>T rs2813558
NM_033071.3(SYNE1):c.20650-3dupT rs755011653
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.810+13G>T rs11264444
NM_170707.4(LMNA):c.811-13T>A rs80356809
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_182914.2(SYNE2):c.*103G>A rs112904973
NM_182914.2(SYNE2):c.*133C>A rs1152583
NM_182914.2(SYNE2):c.*221T>C rs1048315
NM_182914.2(SYNE2):c.*386G>C rs1152582
NM_182914.2(SYNE2):c.*507C>A rs187600277
NM_182914.2(SYNE2):c.*581G>A rs7229
NM_182914.2(SYNE2):c.*661T>A rs192584109
NM_182914.2(SYNE2):c.*662T>A rs13136
NM_182914.2(SYNE2):c.*663A>T rs544882576
NM_182914.2(SYNE2):c.*696A>G rs184175256
NM_182914.2(SYNE2):c.*720C>T rs539694463
NM_182914.2(SYNE2):c.*827G>A rs870404
NM_182914.2(SYNE2):c.-202G>C rs552973060
NM_182914.2(SYNE2):c.-224C>T rs143315154
NM_182914.2(SYNE2):c.-52+9G>A rs535493323
NM_182914.2(SYNE2):c.10196G>A (p.Arg3399His) rs36039501
NM_182914.2(SYNE2):c.10218G>T (p.Leu3406Phe) rs201421128
NM_182914.2(SYNE2):c.10269C>G (p.Ile3423Met) rs35920722
NM_182914.2(SYNE2):c.10392C>T (p.Cys3464=) rs373646325
NM_182914.2(SYNE2):c.10494A>G (p.Thr3498=) rs201000414
NM_182914.2(SYNE2):c.10510A>G (p.Thr3504Ala) rs190518140
NM_182914.2(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186
NM_182914.2(SYNE2):c.10582C>G (p.Leu3528Val) rs374649578
NM_182914.2(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192
NM_182914.2(SYNE2):c.11023-5C>G rs112833938
NM_182914.2(SYNE2):c.11061A>G (p.Ala3687=) rs769752720
NM_182914.2(SYNE2):c.11313G>C (p.Gln3771His) rs144596211
NM_182914.2(SYNE2):c.11379T>C (p.Leu3793=) rs149391344
NM_182914.2(SYNE2):c.11385G>A (p.Lys3795=) rs34954189
NM_182914.2(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054
NM_182914.2(SYNE2):c.11530A>G (p.Ile3844Val) rs140243093
NM_182914.2(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149
NM_182914.2(SYNE2):c.11613A>G (p.Val3871=) rs17101637
NM_182914.2(SYNE2):c.11671-4C>A rs193068394
NM_182914.2(SYNE2):c.11935C>G (p.Leu3979Val) rs76576553
NM_182914.2(SYNE2):c.11944A>C (p.Asn3982His) rs10137972
NM_182914.2(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.2(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205
NM_182914.2(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377
NM_182914.2(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958
NM_182914.2(SYNE2):c.12121C>T (p.Arg4041Cys) rs146197259
NM_182914.2(SYNE2):c.12122G>A (p.Arg4041His) rs17101661
NM_182914.2(SYNE2):c.12151C>G (p.Gln4051Glu) rs149546014
NM_182914.2(SYNE2):c.12190G>A (p.Val4064Ile) rs144164967
NM_182914.2(SYNE2):c.12378C>T (p.Ser4126=) rs36007735
NM_182914.2(SYNE2):c.12382-14G>T rs77622144
NM_182914.2(SYNE2):c.12492+12C>T rs368374335
NM_182914.2(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848
NM_182914.2(SYNE2):c.12596A>G (p.Asn4199Ser) rs35223918
NM_182914.2(SYNE2):c.12612C>T (p.Gly4204=) rs114604397
NM_182914.2(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235
NM_182914.2(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118
NM_182914.2(SYNE2):c.12655G>A (p.Ala4219Thr) rs138644399
NM_182914.2(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737
NM_182914.2(SYNE2):c.12695C>T (p.Pro4232Leu) rs139959852
NM_182914.2(SYNE2):c.12771G>A (p.Val4257=) rs556280812
NM_182914.2(SYNE2):c.12840+8T>C rs145218296
NM_182914.2(SYNE2):c.12931G>A (p.Glu4311Lys) rs142277402
NM_182914.2(SYNE2):c.1296C>A (p.Ser432Arg) rs35554503
NM_182914.2(SYNE2):c.12984A>G (p.Lys4328=) rs151314114
NM_182914.2(SYNE2):c.13065A>G (p.Gln4355=) rs7147884
NM_182914.2(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551
NM_182914.2(SYNE2):c.1318C>T (p.His440Tyr) rs761844853
NM_182914.2(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513
NM_182914.2(SYNE2):c.13266G>A (p.Gln4422=) rs34944385
NM_182914.2(SYNE2):c.13280+3A>G rs113145581
NM_182914.2(SYNE2):c.13377C>G (p.Leu4459=) rs141379692
NM_182914.2(SYNE2):c.13423-7C>G rs7140414
NM_182914.2(SYNE2):c.13526G>A (p.Arg4509His) rs200946949
NM_182914.2(SYNE2):c.13570G>A (p.Glu4524Lys) rs143646847
NM_182914.2(SYNE2):c.13689C>T (p.Gly4563=) rs186567969
NM_182914.2(SYNE2):c.13707+10T>C rs61987277
NM_182914.2(SYNE2):c.13708-14C>A rs11850329
NM_182914.2(SYNE2):c.13850C>T (p.Thr4617Ile) rs148582250
NM_182914.2(SYNE2):c.13918-10T>C rs184683378
NM_182914.2(SYNE2):c.13918-6T>C rs187859624
NM_182914.2(SYNE2):c.14057A>G (p.Glu4686Gly) rs10133691
NM_182914.2(SYNE2):c.14139+5G>A rs374778697
NM_182914.2(SYNE2):c.14197C>A (p.Pro4733Thr) rs75568433
NM_182914.2(SYNE2):c.14203G>A (p.Val4735Ile) rs538224852
NM_182914.2(SYNE2):c.14340+11C>T rs374706268
NM_182914.2(SYNE2):c.14430A>G (p.Thr4810=) rs34248042
NM_182914.2(SYNE2):c.14518T>C (p.Trp4840Arg) rs148323208
NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398
NM_182914.2(SYNE2):c.14720C>T (p.Ala4907Val) rs144804554
NM_182914.2(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354
NM_182914.2(SYNE2):c.14737G>A (p.Glu4913Lys) rs12881815
NM_182914.2(SYNE2):c.14776T>C (p.Leu4926=) rs8007874
NM_182914.2(SYNE2):c.14792A>G (p.Lys4931Arg) rs147640636
NM_182914.2(SYNE2):c.1482G>A (p.Leu494=) rs117567094
NM_182914.2(SYNE2):c.14844-5G>C rs17825431
NM_182914.2(SYNE2):c.14941T>C (p.Leu4981=) rs376940871
NM_182914.2(SYNE2):c.14976+10A>G rs367888426
NM_182914.2(SYNE2):c.15006C>T (p.Ser5002=) rs143686889
NM_182914.2(SYNE2):c.15180G>A (p.Pro5060=) rs139006816
NM_182914.2(SYNE2):c.15218A>G (p.Asn5073Ser) rs142274277
NM_182914.2(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373
NM_182914.2(SYNE2):c.15252C>T (p.Ser5084=) rs757659613
NM_182914.2(SYNE2):c.15256C>T (p.His5086Tyr) rs2039475
NM_182914.2(SYNE2):c.15543C>T (p.Ile5181=) rs11629287
NM_182914.2(SYNE2):c.15556C>A (p.Leu5186Met) rs10151658
NM_182914.2(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874
NM_182914.2(SYNE2):c.15720A>C (p.Ala5240=) rs370147066
NM_182914.2(SYNE2):c.15794T>C (p.Val5265Ala) rs142660236
NM_182914.2(SYNE2):c.15822A>T (p.Ser5274=) rs184241655
NM_182914.2(SYNE2):c.15848A>G (p.Asp5283Gly) rs138797058
NM_182914.2(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607
NM_182914.2(SYNE2):c.15928T>C (p.Leu5310=) rs74975380
NM_182914.2(SYNE2):c.16065C>A (p.Ile5355=) rs36002764
NM_182914.2(SYNE2):c.16095-10G>A rs139126909
NM_182914.2(SYNE2):c.16156C>T (p.Leu5386Phe) rs184745422
NM_182914.2(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048
NM_182914.2(SYNE2):c.16305G>A (p.Leu5435=) rs116758464
NM_182914.2(SYNE2):c.16374A>T (p.Gln5458His) rs191057574
NM_182914.2(SYNE2):c.16405C>A (p.Pro5469Thr) rs148492034
NM_182914.2(SYNE2):c.16410C>G (p.Gly5470=) rs200393620
NM_182914.2(SYNE2):c.16419C>T (p.His5473=) rs138209076
NM_182914.2(SYNE2):c.16420T>A (p.Ser5474Thr) rs114483901
NM_182914.2(SYNE2):c.16479+15T>G rs80199180
NM_182914.2(SYNE2):c.16522T>A (p.Ser5508Thr) rs35190322
NM_182914.2(SYNE2):c.16591C>A (p.Pro5531Thr) rs145036293
NM_182914.2(SYNE2):c.165C>T (p.Ser55=) rs143451415
NM_182914.2(SYNE2):c.16639G>A (p.Asp5547Asn) rs17179194
NM_182914.2(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847
NM_182914.2(SYNE2):c.16722A>G (p.Gln5574=) rs17101704
NM_182914.2(SYNE2):c.16743G>A (p.Thr5581=) rs138769395
NM_182914.2(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925
NM_182914.2(SYNE2):c.17202C>A (p.Leu5734=) rs7161192
NM_182914.2(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035
NM_182914.2(SYNE2):c.17388C>T (p.Pro5796=) rs35744699
NM_182914.2(SYNE2):c.17444G>A (p.Cys5815Tyr) rs143784708
NM_182914.2(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580
NM_182914.2(SYNE2):c.17556+4T>C rs2297301
NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973
NM_182914.2(SYNE2):c.17892C>T (p.Asn5964=) rs201827003
NM_182914.2(SYNE2):c.17938T>C (p.Leu5980=) rs2256191
NM_182914.2(SYNE2):c.18037A>C (p.Arg6013=) rs375971416
NM_182914.2(SYNE2):c.18039-5T>A rs189611387
NM_182914.2(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.2(SYNE2):c.18264C>T (p.Asp6088=) rs182985921
NM_182914.2(SYNE2):c.18429C>T (p.Asp6143=) rs559412468
NM_182914.2(SYNE2):c.1852C>G (p.Leu618Val) rs199697908
NM_182914.2(SYNE2):c.18595C>G (p.Gln6199Glu) rs375497206
NM_182914.2(SYNE2):c.18603G>A (p.Arg6201=) rs141051652
NM_182914.2(SYNE2):c.18641G>A (p.Arg6214Lys) rs200152990
NM_182914.2(SYNE2):c.18723+8C>T rs200853043
NM_182914.2(SYNE2):c.1873C>T (p.His625Tyr) rs192061494
NM_182914.2(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853
NM_182914.2(SYNE2):c.19088A>G (p.Asn6363Ser) rs199566869
NM_182914.2(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640
NM_182914.2(SYNE2):c.19185T>C (p.His6395=) rs146775592
NM_182914.2(SYNE2):c.19194C>T (p.Ala6398=) rs144599409
NM_182914.2(SYNE2):c.19248C>G (p.Pro6416=) rs150363140
NM_182914.2(SYNE2):c.19323C>T (p.Ser6441=) rs186839881
NM_182914.2(SYNE2):c.19333+5C>T rs1152590
NM_182914.2(SYNE2):c.19415C>T (p.Ser6472Leu) rs150955173
NM_182914.2(SYNE2):c.19417G>C (p.Asp6473His) rs140940287
NM_182914.2(SYNE2):c.19458C>T (p.Pro6486=) rs144593270
NM_182914.2(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358
NM_182914.2(SYNE2):c.19581A>C (p.Lys6527Asn) rs141550472
NM_182914.2(SYNE2):c.19636G>A (p.Gly6546Ser) rs199577239
NM_182914.2(SYNE2):c.19639A>G (p.Ile6547Val) rs45453691
NM_182914.2(SYNE2):c.19857G>T (p.Leu6619=) rs35648226
NM_182914.2(SYNE2):c.19867C>T (p.Leu6623=) rs139826953
NM_182914.2(SYNE2):c.19962C>G (p.Leu6654=) rs139326092
NM_182914.2(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500
NM_182914.2(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571
NM_182914.2(SYNE2):c.20061+4C>T rs373128678
NM_182914.2(SYNE2):c.20062-119G>C rs1152588
NM_182914.2(SYNE2):c.20103G>A (p.Ala6701=) rs75079588
NM_182914.2(SYNE2):c.20117G>A (p.Arg6706Gln) rs35831865
NM_182914.2(SYNE2):c.2013G>A (p.Leu671=) rs371320284
NM_182914.2(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578
NM_182914.2(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155
NM_182914.2(SYNE2):c.20197G>A (p.Glu6733Lys) rs150172232
NM_182914.2(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938
NM_182914.2(SYNE2):c.2026A>G (p.Lys676Glu) rs78191145
NM_182914.2(SYNE2):c.20286T>C (p.Cys6762=) rs77065534
NM_182914.2(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.2(SYNE2):c.20382+9A>G rs116394628
NM_182914.2(SYNE2):c.20383-13G>A rs118059639
NM_182914.2(SYNE2):c.20383-9G>A rs373857906
NM_182914.2(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129
NM_182914.2(SYNE2):c.20423C>T (p.Ser6808Leu) rs372922867
NM_182914.2(SYNE2):c.20424G>A (p.Ser6808=) rs187841473
NM_182914.2(SYNE2):c.20462G>A (p.Arg6821Gln) rs148791608
NM_182914.2(SYNE2):c.20497G>A (p.Glu6833Lys) rs58154675
NM_182914.2(SYNE2):c.20524G>C (p.Gly6842Arg) rs201538331
NM_182914.2(SYNE2):c.20536C>T (p.Pro6846Ser) rs147848144
NM_182914.2(SYNE2):c.20547C>T (p.Ser6849=) rs371041220
NM_182914.2(SYNE2):c.20596C>T (p.Leu6866=) rs141474837
NM_182914.2(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182914.2(SYNE2):c.2190A>G (p.Thr730=) rs374751877
NM_182914.2(SYNE2):c.2194C>A (p.Gln732Lys) rs758897129
NM_182914.2(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405
NM_182914.2(SYNE2):c.22C>T (p.Pro8Ser) rs2275017
NM_182914.2(SYNE2):c.2402A>G (p.Gln801Arg) rs200848069
NM_182914.2(SYNE2):c.2409C>A (p.Ser803=) rs17101525
NM_182914.2(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492
NM_182914.2(SYNE2):c.2487A>G (p.Lys829=) rs751368683
NM_182914.2(SYNE2):c.2560C>G (p.Gln854Glu) rs34449017
NM_182914.2(SYNE2):c.2803T>C (p.Leu935=) rs114718315
NM_182914.2(SYNE2):c.280A>G (p.Ile94Val) rs146748294
NM_182914.2(SYNE2):c.2903G>A (p.Arg968His) rs200356303
NM_182914.2(SYNE2):c.2934A>G (p.Glu978=) rs34001379
NM_182914.2(SYNE2):c.2960G>A (p.Gly987Asp) rs769535616
NM_182914.2(SYNE2):c.3054A>C (p.Leu1018=) rs751740731
NM_182914.2(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801
NM_182914.2(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227
NM_182914.2(SYNE2):c.3506G>A (p.Arg1169His) rs200437377
NM_182914.2(SYNE2):c.353A>T (p.Asp118Val) rs199860789
NM_182914.2(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697
NM_182914.2(SYNE2):c.3767G>A (p.Arg1256His) rs183356628
NM_182914.2(SYNE2):c.3830G>A (p.Arg1277His) rs367549881
NM_182914.2(SYNE2):c.3990G>A (p.Ala1330=) rs374980509
NM_182914.2(SYNE2):c.399G>C (p.Leu133=) rs33976862
NM_182914.2(SYNE2):c.4070C>T (p.Thr1357Met) rs769845003
NM_182914.2(SYNE2):c.4177C>T (p.Arg1393Trp) rs17751301
NM_182914.2(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282
NM_182914.2(SYNE2):c.418C>G (p.Leu140Val) rs761503203
NM_182914.2(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158
NM_182914.2(SYNE2):c.430C>G (p.Leu144Val) rs142000273
NM_182914.2(SYNE2):c.4423A>G (p.Lys1475Glu) rs761080544
NM_182914.2(SYNE2):c.4521A>G (p.Gln1507=) rs187183308
NM_182914.2(SYNE2):c.4536A>G (p.Thr1512=) rs11158524
NM_182914.2(SYNE2):c.4578-4T>A rs7146588
NM_182914.2(SYNE2):c.4614A>G (p.Lys1538=) rs572672283
NM_182914.2(SYNE2):c.4785C>A (p.Asn1595Lys) rs199704293
NM_182914.2(SYNE2):c.4842C>T (p.Pro1614=) rs148564084
NM_182914.2(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942
NM_182914.2(SYNE2):c.5020T>C (p.Leu1674=) rs201666704
NM_182914.2(SYNE2):c.5155A>G (p.Met1719Val) rs189676187
NM_182914.2(SYNE2):c.5156T>C (p.Met1719Thr) rs73277546
NM_182914.2(SYNE2):c.5187T>A (p.His1729Gln) rs116597541
NM_182914.2(SYNE2):c.5395T>C (p.Leu1799=) rs186427714
NM_182914.2(SYNE2):c.5451A>G (p.Gln1817=) rs116369229
NM_182914.2(SYNE2):c.5517A>T (p.Leu1839Phe) rs35883188
NM_182914.2(SYNE2):c.5534A>G (p.Lys1845Arg) rs76634907
NM_182914.2(SYNE2):c.5608A>C (p.Ser1870Arg) rs368227332
NM_182914.2(SYNE2):c.5637+12A>G rs150233714
NM_182914.2(SYNE2):c.5637+13T>A rs138898760
NM_182914.2(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702
NM_182914.2(SYNE2):c.5906T>C (p.Met1969Thr) rs4902264
NM_182914.2(SYNE2):c.5987T>C (p.Leu1996Ser) rs780750526
NM_182914.2(SYNE2):c.6071C>T (p.Thr2024Ile) rs201401811
NM_182914.2(SYNE2):c.6321C>T (p.Ser2107=) rs143410137
NM_182914.2(SYNE2):c.6481C>T (p.Leu2161=) rs10151127
NM_182914.2(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242
NM_182914.2(SYNE2):c.6599A>G (p.Lys2200Arg) rs551801857
NM_182914.2(SYNE2):c.6604T>A (p.Leu2202Ile) rs571868188
NM_182914.2(SYNE2):c.6664C>G (p.Pro2222Ala) rs201838350
NM_182914.2(SYNE2):c.6690C>T (p.His2230=) rs138272705
NM_182914.2(SYNE2):c.6714+3G>A rs142902034
NM_182914.2(SYNE2):c.6714+6G>T rs191541575
NM_182914.2(SYNE2):c.6736G>A (p.Gly2246Ser) rs774737023
NM_182914.2(SYNE2):c.6772G>A (p.Val2258Ile) rs200336916
NM_182914.2(SYNE2):c.6851C>T (p.Ala2284Val) rs4027402
NM_182914.2(SYNE2):c.6865T>C (p.Leu2289=) rs11850509
NM_182914.2(SYNE2):c.6880-5C>T rs187173455
NM_182914.2(SYNE2):c.7010G>A (p.Cys2337Tyr) rs762996751
NM_182914.2(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768
NM_182914.2(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465
NM_182914.2(SYNE2):c.7076G>A (p.Ser2359Asn) rs4027404
NM_182914.2(SYNE2):c.7096T>C (p.Ser2366Pro) rs35444312
NM_182914.2(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869
NM_182914.2(SYNE2):c.7128A>G (p.Pro2376=) rs117423703
NM_182914.2(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904
NM_182914.2(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135
NM_182914.2(SYNE2):c.7183G>A (p.Ala2395Thr) rs4027405
NM_182914.2(SYNE2):c.7467G>C (p.Leu2489Phe) rs143031135
NM_182914.2(SYNE2):c.7469T>G (p.Val2490Gly) rs34393543
NM_182914.2(SYNE2):c.7606A>G (p.Met2536Val) rs201406395
NM_182914.2(SYNE2):c.7643+9A>G rs115809466
NM_182914.2(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107
NM_182914.2(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352
NM_182914.2(SYNE2):c.7762G>A (p.Val2588Met) rs373690979
NM_182914.2(SYNE2):c.7872A>C (p.Glu2624Asp) rs140325055
NM_182914.2(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637
NM_182914.2(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218
NM_182914.2(SYNE2):c.8003T>G (p.Leu2668Trp) rs143558316
NM_182914.2(SYNE2):c.8041G>A (p.Val2681Ile) rs150946074
NM_182914.2(SYNE2):c.8404A>G (p.Ser2802Gly) rs1890908
NM_182914.2(SYNE2):c.8422C>T (p.Leu2808=) rs35960129
NM_182914.2(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894
NM_182914.2(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822
NM_182914.2(SYNE2):c.8824A>G (p.Ile2942Val) rs3829767
NM_182914.2(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650
NM_182914.2(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845
NM_182914.2(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668
NM_182914.2(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016
NM_182914.2(SYNE2):c.9252C>T (p.Ala3084=) rs200061977
NM_182914.2(SYNE2):c.9347A>G (p.Lys3116Arg) rs138689053
NM_182914.2(SYNE2):c.9366A>G (p.Gln3122=) rs369128922
NM_182914.2(SYNE2):c.9389A>G (p.Asn3130Ser) rs11847087
NM_182914.2(SYNE2):c.9396G>C (p.Lys3132Asn) rs566182360
NM_182914.2(SYNE2):c.9502A>G (p.Ile3168Val) rs193035848
NM_182914.2(SYNE2):c.9700G>C (p.Glu3234Gln) rs372597797
NM_182914.2(SYNE2):c.9745-9A>G rs778028287
NM_182914.2(SYNE2):c.9757G>C (p.Asp3253His) rs8010911
NM_182914.2(SYNE2):c.990+10A>G rs145924910
NM_182914.2(SYNE2):c.9926A>G (p.His3309Arg) rs8010699
NM_182914.2(SYNE2):c.9974C>T (p.Ala3325Val) rs377173620
NM_182914.3(SYNE2):c.*300G>A
NM_182914.3(SYNE2):c.*461C>T
NM_182914.3(SYNE2):c.10060G>A (p.Ala3354Thr)
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn)
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)
NM_182914.3(SYNE2):c.14020-15T>C
NM_182914.3(SYNE2):c.14676C>T (p.His4892=)
NM_182914.3(SYNE2):c.14984C>T (p.Ser4995Leu)
NM_182914.3(SYNE2):c.15253G>A (p.Val5085Met)
NM_182914.3(SYNE2):c.15290_15292TTC[1] (p.Leu5098del) rs368230785
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)
NM_182914.3(SYNE2):c.16985C>T (p.Thr5662Ile)
NM_182914.3(SYNE2):c.19333+7G>A
NM_182914.3(SYNE2):c.19861-13C>G
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys)
NM_182914.3(SYNE2):c.20190+14C>T
NM_182914.3(SYNE2):c.2493T>G (p.Ile831Met)
NM_182914.3(SYNE2):c.728G>T (p.Arg243Ile)
NM_182914.3(SYNE2):c.7487A>G (p.Tyr2496Cys)
NM_182914.3(SYNE2):c.787+15T>G
NM_182914.3(SYNE2):c.8567T>G (p.Leu2856Arg)
NM_182914.3(SYNE2):c.8890C>T (p.Arg2964Cys)
NM_182914.3(SYNE2):c.9149C>G (p.Ala3050Gly)
NM_182961.4(SYNE1):c.*103C>A rs2250122
NM_182961.4(SYNE1):c.*182G>A rs12681
NM_182961.4(SYNE1):c.*191A>G rs567194577
NM_182961.4(SYNE1):c.*583A>G rs3756933
NM_182961.4(SYNE1):c.*95C>T rs139397787
NM_182961.4(SYNE1):c.-223-10T>C rs564226533
NM_182961.4(SYNE1):c.-391-9T>C rs138926036
NM_182961.4(SYNE1):c.-49C>T rs373654060
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713
NM_182961.4(SYNE1):c.10105A>G (p.Met3369Val) rs199668467
NM_182961.4(SYNE1):c.10145+12T>C rs112401775
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=) rs145287138
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898
NM_182961.4(SYNE1):c.1047+4T>A rs9397106
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382
NM_182961.4(SYNE1):c.10557A>T (p.Ser3519=) rs73784326
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=) rs374376301
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972
NM_182961.4(SYNE1):c.11253+9G>A rs368012172
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786
NM_182961.4(SYNE1):c.11580+15C>T rs6908392
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127
NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu)
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472
NM_182961.4(SYNE1):c.12079-12G>T rs73783853
NM_182961.4(SYNE1):c.12099C>T (p.His4033=) rs375862387
NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly)
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys) rs148935596
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297
NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser) rs386707192
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met) rs148204741
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=) rs138650597
NM_182961.4(SYNE1):c.12795-12A>G rs9478314
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys) rs554814659
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=) rs184264920
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=) rs17082484
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785
NM_182961.4(SYNE1):c.14033C>T (p.Ser4678Phe)
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=) rs138307449
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990
NM_182961.4(SYNE1):c.1463+9A>G rs368846118
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=) rs370314344
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys) rs187403476
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=) rs774649954
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987
NM_182961.4(SYNE1):c.15657+5T>A rs199779021
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met) rs202105931
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=) rs192936944
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) rs35987150
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789
NM_182961.4(SYNE1):c.16237-3del rs752661566
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys) rs138745849
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp) rs780794124
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_182961.4(SYNE1):c.1729+14C>T rs76417048
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752
NM_182961.4(SYNE1):c.17346+7G>A rs9383985
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) rs148731167
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro) rs752135269
NM_182961.4(SYNE1):c.17542-14A>G rs111686341
NM_182961.4(SYNE1):c.17542-7G>A rs199762799
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713
NM_182961.4(SYNE1):c.17683-11T>C rs759219567
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933
NM_182961.4(SYNE1):c.17867G>A (p.Arg5956His) rs80265744
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala) rs200701182
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=) rs146238726
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=) rs149923357
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp)
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976
NM_182961.4(SYNE1):c.18574-13T>C rs148664724
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=) rs552884641
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087
NM_182961.4(SYNE1):c.18871G>A (p.Ala6291Thr) rs143594709
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509
NM_182961.4(SYNE1):c.19656C>T (p.Val6552=) rs773211579
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_182961.4(SYNE1):c.19693-15G>A rs187885923
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile) rs35654757
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu) rs376891338
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) rs35079654
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386
NM_182961.4(SYNE1):c.20530-14G>A rs2296254
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) rs138628147
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=) rs766515787
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400
NM_182961.4(SYNE1):c.21195+12A>G rs200930593
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser) rs777227521
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=) rs75469773
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338
NM_182961.4(SYNE1):c.21523-8T>G rs187773880
NM_182961.4(SYNE1):c.21656+13T>C rs9383976
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile) rs146001055
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His) rs200135486
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=) rs139362680
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys) rs371642308
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr) rs201497427
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796
NM_182961.4(SYNE1):c.23046A>G (p.Ile7682Met) rs772452257
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771
NM_182961.4(SYNE1):c.23461-6A>C rs145098375
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=) rs377113267
NM_182961.4(SYNE1):c.23791-13C>T rs371245873
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=) rs767628258
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962
NM_182961.4(SYNE1):c.23978+11A>T rs754355745
NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=) rs572195368
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe) rs139600654
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=) rs185088779
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn) rs267600861
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) rs201548223
NM_182961.4(SYNE1):c.24783C>T (p.Leu8261=)
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln) rs201029723
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368
NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln)
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755
NM_182961.4(SYNE1):c.24977-1719A>G rs202030113
NM_182961.4(SYNE1):c.24977-1774A>G rs2747662
NM_182961.4(SYNE1):c.24977-1786A>G rs377088951
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=) rs200678102
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885
NM_182961.4(SYNE1):c.25120-6A>G rs201898019
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=) rs776288515
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp) rs764235096
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=) rs201344762
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=) rs747858299
NM_182961.4(SYNE1):c.2569-8C>T rs376033376
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.26002-4A>G rs77220999
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln) rs2295192
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) rs144206837
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg) rs369192821
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599
NM_182961.4(SYNE1):c.309+14A>G rs368595280
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=) rs147176678
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701
NM_182961.4(SYNE1):c.336C>T (p.Thr112=) rs149008539
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala) rs555800735
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489
NM_182961.4(SYNE1):c.3669+10T>C rs187598275
NM_182961.4(SYNE1):c.3670-4A>G rs377058395
NM_182961.4(SYNE1):c.3691T>C (p.Phe1231Leu) rs146403390
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242
NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp) rs200763530
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln) rs201144728
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766
NM_182961.4(SYNE1):c.402+11A>G rs80276170
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=) rs146567226
NM_182961.4(SYNE1):c.4461+15C>T
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705
NM_182961.4(SYNE1):c.4637C>A (p.Thr1546Lys)
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624
NM_182961.4(SYNE1):c.4789-13G>A rs142900784
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=) rs771955377
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) rs150702500
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177
NM_182961.4(SYNE1):c.5341A>T (p.Ile1781Phe) rs141796889
NM_182961.4(SYNE1):c.5421+9G>T rs376218204
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val) rs76393834
NM_182961.4(SYNE1):c.581+7A>G
NM_182961.4(SYNE1):c.582-9A>G rs200412221
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=) rs533039765
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr) rs577979265
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284
NM_182961.4(SYNE1):c.6826-6A>G rs183683592
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) rs117184249
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546
NM_182961.4(SYNE1):c.7029+15A>G rs757201043
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys) rs370082646
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088
NM_182961.4(SYNE1):c.7556+14A>G rs78034368
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673
NM_182961.4(SYNE1):c.7713-11C>T rs201131946
NM_182961.4(SYNE1):c.7713-12C>T rs550804556
NM_182961.4(SYNE1):c.7713-4T>C rs571742202
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=) rs79449810
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635
NM_182961.4(SYNE1):c.8005-3C>T rs117084693
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241
NM_182961.4(SYNE1):c.8177+9C>T rs56877632
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro) rs757960938
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn) rs77221231
NM_182961.4(SYNE1):c.9147-13G>A rs214955
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=) rs188913729
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn) rs140508714
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071
NM_182961.4(SYNE1):c.9651+12G>A rs143173603
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu) rs114954026
NM_182961.4(SYNE1):c.9807+14C>G rs182453040
NM_182961.4(SYNE1):c.9807+5C>T rs185350092
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) rs150912982
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=) rs200222988
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=) rs184006845
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn) rs147281213
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656

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