ClinVar Miner

List of variants in gene SYNE2 studied for autosomal dominant Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 953
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HGVS dbSNP
NM_015180.5(SYNE2):c.11023-24_11023-9del rs756704685
NM_015180.5(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly) rs1555473349
NM_015180.5(SYNE2):c.12001_12002inv (p.Trp4001Gln)
NM_015180.5(SYNE2):c.13695_13707+2dup rs758985012
NM_015180.5(SYNE2):c.16328_16330AAG[1] (p.Glu5444del) rs751691446
NM_015180.5(SYNE2):c.19480_19482CTA[1] (p.Leu6496del) rs886043261
NM_015180.5(SYNE2):c.20566_20568delinsGAA (p.Ser6856Glu) rs1555564487
NM_015180.5(SYNE2):c.8403_8404inv (p.Ser2802Gly)
NM_015180.5(SYNE2):c.9284A>G (p.Lys3095Arg) rs771325522
NM_182914.2(SYNE2):c.*103G>A rs112904973
NM_182914.2(SYNE2):c.*133C>A rs1152583
NM_182914.2(SYNE2):c.*145C>A rs886050602
NM_182914.2(SYNE2):c.*149G>C rs886050603
NM_182914.2(SYNE2):c.*219T>G rs886050604
NM_182914.2(SYNE2):c.*221T>C rs1048315
NM_182914.2(SYNE2):c.*305G>T rs886050605
NM_182914.2(SYNE2):c.*315C>T rs183982306
NM_182914.2(SYNE2):c.*359A>C rs886050606
NM_182914.2(SYNE2):c.*386G>C rs1152582
NM_182914.2(SYNE2):c.*489C>A rs886050607
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.*695T>G rs886050608
NM_182914.2(SYNE2):c.*696A>G rs184175256
NM_182914.2(SYNE2):c.*720C>T rs539694463
NM_182914.2(SYNE2):c.*732G>A rs886050609
NM_182914.2(SYNE2):c.*734T>A rs886050610
NM_182914.2(SYNE2):c.*827G>A rs870404
NM_182914.2(SYNE2):c.-107G>A rs886050577
NM_182914.2(SYNE2):c.-128A>T rs886050576
NM_182914.2(SYNE2):c.-169C>T rs886050575
NM_182914.2(SYNE2):c.-202G>C rs552973060
NM_182914.2(SYNE2):c.-209A>T rs886050574
NM_182914.2(SYNE2):c.-224C>T rs143315154
NM_182914.2(SYNE2):c.-52+9G>A rs535493323
NM_182914.2(SYNE2):c.10095A>G (p.Arg3365=) rs756893550
NM_182914.2(SYNE2):c.10164G>A (p.Ser3388=) rs772208833
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.10267A>T (p.Ile3423Phe) rs779367486
NM_182914.2(SYNE2):c.10269C>G (p.Ile3423Met) rs35920722
NM_182914.2(SYNE2):c.10306G>A (p.Gly3436Ser) rs768614412
NM_182914.2(SYNE2):c.10313G>A (p.Cys3438Tyr) rs144108695
NM_182914.2(SYNE2):c.10327G>A (p.Val3443Met) rs564182126
NM_182914.2(SYNE2):c.10331C>T (p.Ser3444Leu) rs372338837
NM_182914.2(SYNE2):c.10386G>A (p.Met3462Ile) rs780632525
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.10495A>C (p.Lys3499Gln) rs752900825
NM_182914.2(SYNE2):c.10510A>G (p.Thr3504Ala) rs190518140
NM_182914.2(SYNE2):c.10552G>A (p.Gly3518Arg) rs1555462898
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.10597C>G (p.Gln3533Glu) rs200040718
NM_182914.2(SYNE2):c.1060C>T (p.Arg354Trp) rs374073818
NM_182914.2(SYNE2):c.10760C>T (p.Ser3587Phe) rs748430621
NM_182914.2(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192
NM_182914.2(SYNE2):c.10844C>T (p.Pro3615Leu) rs549458287
NM_182914.2(SYNE2):c.10881C>T (p.Ile3627=) rs750125057
NM_182914.2(SYNE2):c.10924C>A (p.Leu3642Met) rs1595351833
NM_182914.2(SYNE2):c.10928G>A (p.Arg3643Gln) rs748433814
NM_182914.2(SYNE2):c.10947G>A (p.Met3649Ile) rs772140514
NM_182914.2(SYNE2):c.11016T>C (p.Asp3672=) rs886050584
NM_182914.2(SYNE2):c.11023-5C>G rs112833938
NM_182914.2(SYNE2):c.11047T>A (p.Ser3683Thr) rs199977941
NM_182914.2(SYNE2):c.11061A>G (p.Ala3687=) rs769752720
NM_182914.2(SYNE2):c.11164-4C>T rs370961691
NM_182914.2(SYNE2):c.11174A>G (p.Asp3725Gly) rs1595379549
NM_182914.2(SYNE2):c.11259A>C (p.Gln3753His) rs1226574131
NM_182914.2(SYNE2):c.11282T>A (p.Ile3761Asn) rs767934367
NM_182914.2(SYNE2):c.11313G>C (p.Gln3771His) rs144596211
NM_182914.2(SYNE2):c.11323T>A (p.Cys3775Ser) rs753899883
NM_182914.2(SYNE2):c.11336A>G (p.Gln3779Arg) rs538884693
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.11411C>G (p.Thr3804Ser) rs367893963
NM_182914.2(SYNE2):c.11441A>G (p.Tyr3814Cys) rs780583186
NM_182914.2(SYNE2):c.11462G>A (p.Ser3821Asn) rs1555469449
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.11549A>G (p.Asp3850Gly) rs527339341
NM_182914.2(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149
NM_182914.2(SYNE2):c.11550C>A (p.Asp3850Glu) rs146261323
NM_182914.2(SYNE2):c.11613A>G (p.Val3871=) rs17101637
NM_182914.2(SYNE2):c.11615C>T (p.Thr3872Ile) rs1595432634
NM_182914.2(SYNE2):c.11656C>G (p.Gln3886Glu) rs1235280357
NM_182914.2(SYNE2):c.11660G>A (p.Arg3887Gln) rs181798411
NM_182914.2(SYNE2):c.11671-4C>A rs193068394
NM_182914.2(SYNE2):c.11729A>G (p.Lys3910Arg) rs142616444
NM_182914.2(SYNE2):c.11834C>T (p.Ala3945Val) rs756937805
NM_182914.2(SYNE2):c.11876C>T (p.Thr3959Ile) rs149790389
NM_182914.2(SYNE2):c.11900T>G (p.Phe3967Cys) rs1567266829
NM_182914.2(SYNE2):c.11905C>T (p.Arg3969Trp) rs141498263
NM_182914.2(SYNE2):c.11906G>A (p.Arg3969Gln) rs563332131
NM_182914.2(SYNE2):c.11935C>G (p.Leu3979Val) rs76576553
NM_182914.2(SYNE2):c.11937A>G (p.Leu3979=) rs147744381
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.1195C>A (p.Leu399Ile) rs751800008
NM_182914.2(SYNE2):c.11976+5G>A rs772490248
NM_182914.2(SYNE2):c.11993C>T (p.Thr3998Ile) rs886050585
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.12037A>T (p.Asn4013Tyr) rs1555478028
NM_182914.2(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958
NM_182914.2(SYNE2):c.12056T>G (p.Phe4019Cys) rs150105416
NM_182914.2(SYNE2):c.12064G>A (p.Glu4022Lys) rs886050586
NM_182914.2(SYNE2):c.12108+3A>G rs751551602
NM_182914.2(SYNE2):c.12118G>A (p.Glu4040Lys) rs1245656240
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.12192A>G (p.Val4064=) rs374645403
NM_182914.2(SYNE2):c.12194T>C (p.Leu4065Pro) rs780016521
NM_182914.2(SYNE2):c.12226G>A (p.Glu4076Lys) rs1567288490
NM_182914.2(SYNE2):c.12238A>G (p.Arg4080Gly) rs769301000
NM_182914.2(SYNE2):c.12239G>A (p.Arg4080Lys) rs886042419
NM_182914.2(SYNE2):c.12253G>A (p.Ala4085Thr) rs772564360
NM_182914.2(SYNE2):c.12299A>C (p.Glu4100Ala) rs779963258
NM_182914.2(SYNE2):c.12302G>A (p.Arg4101Gln) rs372624638
NM_182914.2(SYNE2):c.12311A>C (p.Asn4104Thr) rs886050587
NM_182914.2(SYNE2):c.12325A>G (p.Met4109Val) rs1296085055
NM_182914.2(SYNE2):c.12352G>A (p.Glu4118Lys) rs763188798
NM_182914.2(SYNE2):c.12370G>T (p.Val4124Leu) rs370255444
NM_182914.2(SYNE2):c.12378C>T (p.Ser4126=) rs36007735
NM_182914.2(SYNE2):c.12381+5G>A rs771680833
NM_182914.2(SYNE2):c.12381+6G>A rs781486571
NM_182914.2(SYNE2):c.12382-14G>T rs77622144
NM_182914.2(SYNE2):c.12437A>G (p.His4146Arg) rs375035375
NM_182914.2(SYNE2):c.12445G>T (p.Asp4149Tyr) rs1555485325
NM_182914.2(SYNE2):c.12457G>C (p.Asp4153His) rs1595531126
NM_182914.2(SYNE2):c.12470C>T (p.Ser4157Leu) rs1567303775
NM_182914.2(SYNE2):c.12492+12C>T rs368374335
NM_182914.2(SYNE2):c.12529A>G (p.Met4177Val) rs772354856
NM_182914.2(SYNE2):c.12560A>T (p.Asn4187Ile) rs34480732
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.12609+1G>T rs745516407
NM_182914.2(SYNE2):c.12610G>T (p.Gly4204Cys) rs886050588
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.12636C>G (p.Asp4212Glu) rs752924139
NM_182914.2(SYNE2):c.12637A>C (p.Thr4213Pro) rs886050589
NM_182914.2(SYNE2):c.12655G>A (p.Ala4219Thr) rs138644399
NM_182914.2(SYNE2):c.12655G>C (p.Ala4219Pro) rs138644399
NM_182914.2(SYNE2):c.12660A>G (p.Gln4220=) rs745820221
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.12739G>A (p.Glu4247Lys) rs886050590
NM_182914.2(SYNE2):c.12771G>A (p.Val4257=) rs556280812
NM_182914.2(SYNE2):c.12796G>A (p.Ala4266Thr) rs1316995826
NM_182914.2(SYNE2):c.12840+12A>G rs886050591
NM_182914.2(SYNE2):c.12840+8T>C rs145218296
NM_182914.2(SYNE2):c.128C>T (p.Ser43Leu) rs754783984
NM_182914.2(SYNE2):c.12903C>T (p.Gly4301=) rs148708516
NM_182914.2(SYNE2):c.12931G>A (p.Glu4311Lys) rs142277402
NM_182914.2(SYNE2):c.12941C>T (p.Ala4314Val) rs769993001
NM_182914.2(SYNE2):c.12942G>A (p.Ala4314=) rs762957203
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.13020_13023+12delinsGATCT rs1555495562
NM_182914.2(SYNE2):c.13021C>G (p.Gln4341Glu) rs367698099
NM_182914.2(SYNE2):c.13065A>G (p.Gln4355=) rs7147884
NM_182914.2(SYNE2):c.13141G>T (p.Asp4381Tyr) rs1595663501
NM_182914.2(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551
NM_182914.2(SYNE2):c.13159G>C (p.Val4387Leu) rs764515386
NM_182914.2(SYNE2):c.1318C>T (p.His440Tyr) rs761844853
NM_182914.2(SYNE2):c.13234C>T (p.Gln4412Ter) rs1427446795
NM_182914.2(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513
NM_182914.2(SYNE2):c.13256A>G (p.Asp4419Gly) rs376129364
NM_182914.2(SYNE2):c.13266G>A (p.Gln4422=) rs34944385
NM_182914.2(SYNE2):c.13280+3A>G rs113145581
NM_182914.2(SYNE2):c.13281-6C>T rs376973894
NM_182914.2(SYNE2):c.13377C>G (p.Leu4459=) rs141379692
NM_182914.2(SYNE2):c.13423-7C>G rs7140414
NM_182914.2(SYNE2):c.13423G>A (p.Val4475Ile) rs200498250
NM_182914.2(SYNE2):c.13424T>C (p.Val4475Ala) rs146977539
NM_182914.2(SYNE2):c.13457C>G (p.Thr4486Ser) rs377086810
NM_182914.2(SYNE2):c.13466A>G (p.Asn4489Ser) rs747349342
NM_182914.2(SYNE2):c.13510C>G (p.Gln4504Glu) rs372861398
NM_182914.2(SYNE2):c.13524G>C (p.Leu4508=) rs373702093
NM_182914.2(SYNE2):c.13526G>A (p.Arg4509His) rs200946949
NM_182914.2(SYNE2):c.1356A>C (p.Glu452Asp) rs199748407
NM_182914.2(SYNE2):c.13570G>A (p.Glu4524Lys) rs143646847
NM_182914.2(SYNE2):c.13687G>C (p.Gly4563Arg) rs1595697916
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.1384A>G (p.Lys462Glu) rs753039223
NM_182914.2(SYNE2):c.13850C>T (p.Thr4617Ile) rs148582250
NM_182914.2(SYNE2):c.13861G>A (p.Ala4621Thr) rs745357432
NM_182914.2(SYNE2):c.13883T>C (p.Leu4628Pro) rs559503999
NM_182914.2(SYNE2):c.13906C>T (p.Arg4636Cys) rs767673156
NM_182914.2(SYNE2):c.13917+10C>T rs760288753
NM_182914.2(SYNE2):c.13918-10T>C rs184683378
NM_182914.2(SYNE2):c.13918-6T>C rs187859624
NM_182914.2(SYNE2):c.13983T>C (p.Asn4661=) rs200656842
NM_182914.2(SYNE2):c.14053G>T (p.Ala4685Ser) rs779457100
NM_182914.2(SYNE2):c.14057A>G (p.Glu4686Gly) rs10133691
NM_182914.2(SYNE2):c.14071A>G (p.Lys4691Glu) rs143798878
NM_182914.2(SYNE2):c.14088G>A (p.Gly4696=) rs200893674
NM_182914.2(SYNE2):c.14104C>A (p.Pro4702Thr) rs111880729
NM_182914.2(SYNE2):c.14110G>T (p.Ala4704Ser) rs886050592
NM_182914.2(SYNE2):c.1412A>G (p.Asn471Ser) rs1596005286
NM_182914.2(SYNE2):c.14139+5G>A rs374778697
NM_182914.2(SYNE2):c.14157G>T (p.Met4719Ile) rs140797941
NM_182914.2(SYNE2):c.14184A>G (p.Thr4728=) rs753123786
NM_182914.2(SYNE2):c.14196C>G (p.Ser4732Arg) rs749317592
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.14225C>T (p.Ala4742Val) rs373034895
NM_182914.2(SYNE2):c.14229G>T (p.Leu4743Phe) rs772739903
NM_182914.2(SYNE2):c.14313G>A (p.Ala4771=) rs148690779
NM_182914.2(SYNE2):c.14327T>C (p.Ile4776Thr) rs563179946
NM_182914.2(SYNE2):c.14340+11C>T rs374706268
NM_182914.2(SYNE2):c.14430A>G (p.Thr4810=) rs34248042
NM_182914.2(SYNE2):c.14460A>C (p.Lys4820Asn) rs574306382
NM_182914.2(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641
NM_182914.2(SYNE2):c.144C>T (p.His48=) rs751515594
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.14544A>G (p.Ala4848=) rs150819349
NM_182914.2(SYNE2):c.1463A>G (p.Lys488Arg) rs1437677917
NM_182914.2(SYNE2):c.14644C>T (p.Gln4882Ter) rs1555503635
NM_182914.2(SYNE2):c.14646+6T>A rs369760846
NM_182914.2(SYNE2):c.1471G>A (p.Val491Ile) rs1596005659
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.14812A>G (p.Arg4938Gly) rs1258752132
NM_182914.2(SYNE2):c.1482G>A (p.Leu494=) rs117567094
NM_182914.2(SYNE2):c.14844-5G>C rs17825431
NM_182914.2(SYNE2):c.14900T>C (p.Leu4967Pro) rs1555506605
NM_182914.2(SYNE2):c.14920T>G (p.Ser4974Ala) rs142514437
NM_182914.2(SYNE2):c.14941T>C (p.Leu4981=) rs376940871
NM_182914.2(SYNE2):c.14976+10A>G rs367888426
NM_182914.2(SYNE2):c.14976+3A>G rs747632731
NM_182914.2(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017
NM_182914.2(SYNE2):c.15006C>T (p.Ser5002=) rs143686889
NM_182914.2(SYNE2):c.15028A>G (p.Ser5010Gly) rs754937863
NM_182914.2(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146
NM_182914.2(SYNE2):c.15050A>T (p.His5017Leu) rs1387380431
NM_182914.2(SYNE2):c.15132T>A (p.Leu5044=) rs201429908
NM_182914.2(SYNE2):c.15165A>G (p.Gln5055=) rs145021738
NM_182914.2(SYNE2):c.15180G>A (p.Pro5060=) rs139006816
NM_182914.2(SYNE2):c.15187A>C (p.Lys5063Gln) rs746864967
NM_182914.2(SYNE2):c.15218A>G (p.Asn5073Ser) rs142274277
NM_182914.2(SYNE2):c.15219C>T (p.Asn5073=) rs762722997
NM_182914.2(SYNE2):c.15234A>G (p.Gln5078=) rs139340468
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.15263C>A (p.Pro5088Gln) rs779934215
NM_182914.2(SYNE2):c.15351C>T (p.Phe5117=) rs569092674
NM_182914.2(SYNE2):c.15385G>A (p.Asp5129Asn) rs931728993
NM_182914.2(SYNE2):c.15446G>T (p.Arg5149Leu) rs142206385
NM_182914.2(SYNE2):c.15457C>T (p.Arg5153Cys) rs770267414
NM_182914.2(SYNE2):c.15483+13G>A rs369303929
NM_182914.2(SYNE2):c.15495A>G (p.Leu5165=) rs1555509783
NM_182914.2(SYNE2):c.15527A>T (p.Glu5176Val) rs1595828652
NM_182914.2(SYNE2):c.15543C>T (p.Ile5181=) rs11629287
NM_182914.2(SYNE2):c.15552C>T (p.Asn5184=) rs201334658
NM_182914.2(SYNE2):c.15556C>A (p.Leu5186Met) rs10151658
NM_182914.2(SYNE2):c.15667T>A (p.Ser5223Thr) rs150361559
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.15749G>A (p.Arg5250Gln) rs201962497
NM_182914.2(SYNE2):c.15774A>G (p.Arg5258=) rs1595869914
NM_182914.2(SYNE2):c.15781G>A (p.Val5261Ile) rs144605670
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.15859G>A (p.Asp5287Asn) rs188953744
NM_182914.2(SYNE2):c.15865G>A (p.Val5289Met) rs181059522
NM_182914.2(SYNE2):c.15884G>T (p.Arg5295Leu) rs769633528
NM_182914.2(SYNE2):c.15928T>C (p.Leu5310=) rs74975380
NM_182914.2(SYNE2):c.15929T>C (p.Leu5310Ser) rs199976741
NM_182914.2(SYNE2):c.16037G>A (p.Gly5346Asp) rs751652922
NM_182914.2(SYNE2):c.16065C>A (p.Ile5355=) rs36002764
NM_182914.2(SYNE2):c.16088A>G (p.His5363Arg) rs150677837
NM_182914.2(SYNE2):c.16095-10G>A rs139126909
NM_182914.2(SYNE2):c.16109A>C (p.Asn5370Thr) rs760687493
NM_182914.2(SYNE2):c.16127A>G (p.Gln5376Arg) rs753646712
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.16184G>A (p.Gly5395Asp) rs775698210
NM_182914.2(SYNE2):c.16195G>A (p.Ala5399Thr) rs140265039
NM_182914.2(SYNE2):c.16300G>A (p.Glu5434Lys) rs886050594
NM_182914.2(SYNE2):c.16305G>A (p.Leu5435=) rs116758464
NM_182914.2(SYNE2):c.16312G>A (p.Asp5438Asn) rs201134182
NM_182914.2(SYNE2):c.16313A>G (p.Asp5438Gly) rs374348890
NM_182914.2(SYNE2):c.16349C>G (p.Ser5450Cys) rs757857559
NM_182914.2(SYNE2):c.16374A>T (p.Gln5458His) rs191057574
NM_182914.2(SYNE2):c.16378G>A (p.Ala5460Thr) rs775169295
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.16480-1G>A rs1595931919
NM_182914.2(SYNE2):c.16480-9T>G rs776380039
NM_182914.2(SYNE2):c.16510G>A (p.Val5504Ile) rs1405152996
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.16605+10A>G rs761193543
NM_182914.2(SYNE2):c.16605+9A>G rs775937516
NM_182914.2(SYNE2):c.16639G>A (p.Asp5547Asn) rs17179194
NM_182914.2(SYNE2):c.16640A>G (p.Asp5547Gly) rs150415189
NM_182914.2(SYNE2):c.16700C>T (p.Thr5567Met) rs527368157
NM_182914.2(SYNE2):c.16701G>T (p.Thr5567=) rs200950664
NM_182914.2(SYNE2):c.16717C>T (p.Arg5573Trp) rs138323662
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.16737G>A (p.Thr5579=) rs147156341
NM_182914.2(SYNE2):c.16743G>A (p.Thr5581=) rs138769395
NM_182914.2(SYNE2):c.16754G>A (p.Arg5585His) rs141144237
NM_182914.2(SYNE2):c.16782G>A (p.Leu5594=) rs540356646
NM_182914.2(SYNE2):c.16816A>G (p.Ile5606Val) rs1595946488
NM_182914.2(SYNE2):c.16844C>T (p.Ala5615Val) rs372515789
NM_182914.2(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222
NM_182914.2(SYNE2):c.16863T>C (p.Ala5621=) rs200618488
NM_182914.2(SYNE2):c.1689G>A (p.Val563=) rs756480117
NM_182914.2(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028
NM_182914.2(SYNE2):c.17001-8T>C rs768210935
NM_182914.2(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925
NM_182914.2(SYNE2):c.17038C>T (p.Arg5680Trp) rs143377752
NM_182914.2(SYNE2):c.17177T>C (p.Val5726Ala) rs944538946
NM_182914.2(SYNE2):c.17188G>A (p.Glu5730Lys) rs368540403
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.17235+5T>C rs777252251
NM_182914.2(SYNE2):c.17264G>A (p.Arg5755Gln) rs368893421
NM_182914.2(SYNE2):c.17334G>T (p.Glu5778Asp) rs1349823978
NM_182914.2(SYNE2):c.17352C>A (p.Ile5784=) rs371404598
NM_182914.2(SYNE2):c.17388C>T (p.Pro5796=) rs35744699
NM_182914.2(SYNE2):c.17423C>T (p.Thr5808Ile) rs139361264
NM_182914.2(SYNE2):c.17431-3T>C rs886050595
NM_182914.2(SYNE2):c.17431A>G (p.Thr5811Ala) rs1596007501
NM_182914.2(SYNE2):c.17444G>A (p.Cys5815Tyr) rs143784708
NM_182914.2(SYNE2):c.17504A>G (p.Asp5835Gly) rs147097998
NM_182914.2(SYNE2):c.17524G>A (p.Glu5842Lys) rs769564739
NM_182914.2(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580
NM_182914.2(SYNE2):c.17539G>C (p.Glu5847Gln) rs201427580
NM_182914.2(SYNE2):c.17556+4T>C rs2297301
NM_182914.2(SYNE2):c.17557G>C (p.Glu5853Gln) rs1158170304
NM_182914.2(SYNE2):c.17560C>A (p.Leu5854Ile) rs773797629
NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973
NM_182914.2(SYNE2):c.17591A>G (p.Asn5864Ser) rs566886977
NM_182914.2(SYNE2):c.1760G>T (p.Cys587Phe) rs1555410673
NM_182914.2(SYNE2):c.17635G>A (p.Val5879Ile) rs555731479
NM_182914.2(SYNE2):c.17685C>T (p.His5895=) rs1596080039
NM_182914.2(SYNE2):c.17713G>A (p.Val5905Met) rs778679729
NM_182914.2(SYNE2):c.17717C>A (p.Ala5906Asp) rs755652581
NM_182914.2(SYNE2):c.17791G>A (p.Ala5931Thr) rs945430507
NM_182914.2(SYNE2):c.17832G>A (p.Ala5944=) rs886050596
NM_182914.2(SYNE2):c.1787G>A (p.Arg596His) rs764379968
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.18000C>A (p.Asn6000Lys) rs150002885
NM_182914.2(SYNE2):c.18001G>A (p.Asp6001Asn) rs769737846
NM_182914.2(SYNE2):c.18037A>C (p.Arg6013=) rs375971416
NM_182914.2(SYNE2):c.18038+5G>A rs1328692834
NM_182914.2(SYNE2):c.18039-5T>A rs189611387
NM_182914.2(SYNE2):c.18085A>G (p.Lys6029Glu) rs1016575974
NM_182914.2(SYNE2):c.18104G>A (p.Arg6035His) rs963291095
NM_182914.2(SYNE2):c.18114G>A (p.Leu6038=) rs1567630913
NM_182914.2(SYNE2):c.18121A>G (p.Ile6041Val) rs886050597
NM_182914.2(SYNE2):c.18169C>G (p.Gln6057Glu) rs919132800
NM_182914.2(SYNE2):c.18180G>C (p.Gln6060His) rs771893487
NM_182914.2(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.2(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439
NM_182914.2(SYNE2):c.1823A>G (p.Glu608Gly) rs765250294
NM_182914.2(SYNE2):c.18264C>T (p.Asp6088=) rs182985921
NM_182914.2(SYNE2):c.18304G>A (p.Glu6102Lys) rs560736067
NM_182914.2(SYNE2):c.18315G>A (p.Ser6105=) rs202084149
NM_182914.2(SYNE2):c.18346C>T (p.Arg6116Cys) rs762858190
NM_182914.2(SYNE2):c.1837-11G>A rs770407054
NM_182914.2(SYNE2):c.18385A>G (p.Met6129Val) rs766731181
NM_182914.2(SYNE2):c.18389+7A>T rs372337180
NM_182914.2(SYNE2):c.18429C>T (p.Asp6143=) rs559412468
NM_182914.2(SYNE2):c.1842C>T (p.Pro614=) rs1192547176
NM_182914.2(SYNE2):c.1844T>C (p.Phe615Ser) rs369877790
NM_182914.2(SYNE2):c.18509C>T (p.Thr6170Met) rs200893937
NM_182914.2(SYNE2):c.1852C>G (p.Leu618Val) rs199697908
NM_182914.2(SYNE2):c.18541-9G>A rs886050598
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.18622C>T (p.Arg6208Cys) rs377305355
NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895
NM_182914.2(SYNE2):c.18641G>A (p.Arg6214Lys) rs200152990
NM_182914.2(SYNE2):c.18662A>G (p.Glu6221Gly) rs1410409309
NM_182914.2(SYNE2):c.1867C>G (p.Leu623Val) rs886050579
NM_182914.2(SYNE2):c.18723+8C>T rs200853043
NM_182914.2(SYNE2):c.1873C>T (p.His625Tyr) rs192061494
NM_182914.2(SYNE2):c.18835G>A (p.Ala6279Thr) rs145871645
NM_182914.2(SYNE2):c.18963G>T (p.Leu6321=) rs757232346
NM_182914.2(SYNE2):c.19011T>G (p.Phe6337Leu) rs761432348
NM_182914.2(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853
NM_182914.2(SYNE2):c.19056+10C>T rs369172478
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.19136G>A (p.Arg6379His) rs150629598
NM_182914.2(SYNE2):c.1914C>T (p.Val638=) rs756044885
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.19204G>A (p.Glu6402Lys) rs200971467
NM_182914.2(SYNE2):c.19248C>G (p.Pro6416=) rs150363140
NM_182914.2(SYNE2):c.19310G>A (p.Gly6437Asp) rs1555551887
NM_182914.2(SYNE2):c.19323C>T (p.Ser6441=) rs186839881
NM_182914.2(SYNE2):c.19328T>C (p.Leu6443Pro) rs1555551908
NM_182914.2(SYNE2):c.19333+5C>T rs1152590
NM_182914.2(SYNE2):c.19391A>C (p.Lys6464Thr) rs1555552449
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.19441G>C (p.Asp6481His) rs202052357
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.19623C>T (p.Asp6541=) rs150366060
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.19646A>G (p.Glu6549Gly) rs1567679516
NM_182914.2(SYNE2):c.19691A>G (p.Gln6564Arg) rs1567682749
NM_182914.2(SYNE2):c.19747A>G (p.Ile6583Val) rs771974044
NM_182914.2(SYNE2):c.19763C>T (p.Thr6588Ile) rs752030533
NM_182914.2(SYNE2):c.19823A>T (p.Asp6608Val) rs372546949
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.19892C>T (p.Ala6631Val) rs747881699
NM_182914.2(SYNE2):c.19938C>T (p.Thr6646=) rs765762035
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.19973T>A (p.Leu6658His) rs1555558485
NM_182914.2(SYNE2):c.2001+8C>A rs1594650966
NM_182914.2(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571
NM_182914.2(SYNE2):c.20028A>G (p.Arg6676=) rs759606978
NM_182914.2(SYNE2):c.20029G>A (p.Gly6677Arg) rs767622970
NM_182914.2(SYNE2):c.20045C>T (p.Ser6682Leu) rs201256334
NM_182914.2(SYNE2):c.20061+4C>T rs373128678
NM_182914.2(SYNE2):c.20061+5G>A rs774599138
NM_182914.2(SYNE2):c.20062-119G>C rs1152588
NM_182914.2(SYNE2):c.20073G>C (p.Gln6691His) rs1555559928
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.20140G>A (p.Asp6714Asn) rs751000273
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.20191-8G>C rs1596324923
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.20206C>G (p.Leu6736Val) rs779852124
NM_182914.2(SYNE2):c.20215C>T (p.Arg6739Cys) rs142809757
NM_182914.2(SYNE2):c.20216G>A (p.Arg6739His) rs532853602
NM_182914.2(SYNE2):c.2023A>G (p.Ile675Val) rs199854951
NM_182914.2(SYNE2):c.20240A>C (p.Gln6747Pro) rs147470935
NM_182914.2(SYNE2):c.20245A>T (p.Ile6749Phe) rs886050599
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.20303A>C (p.Lys6768Thr) rs775768707
NM_182914.2(SYNE2):c.20315T>C (p.Ile6772Thr) rs1474759634
NM_182914.2(SYNE2):c.20338C>G (p.Arg6780Gly) rs138437515
NM_182914.2(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.2(SYNE2):c.20366C>A (p.Ala6789Asp) rs765411016
NM_182914.2(SYNE2):c.20382+9A>G rs116394628
NM_182914.2(SYNE2):c.20383-13G>A rs118059639
NM_182914.2(SYNE2):c.20383-15G>T rs886050600
NM_182914.2(SYNE2):c.20383-9G>A rs373857906
NM_182914.2(SYNE2):c.20409C>T (p.Phe6803=) rs1233622581
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.20428G>T (p.Asp6810Tyr) rs1370786771
NM_182914.2(SYNE2):c.20448C>T (p.Ser6816=) rs546213944
NM_182914.2(SYNE2):c.2044A>C (p.Thr682Pro) rs1594659210
NM_182914.2(SYNE2):c.20462G>A (p.Arg6821Gln) rs148791608
NM_182914.2(SYNE2):c.20470-7C>G rs1555563835
NM_182914.2(SYNE2):c.20497G>A (p.Glu6833Lys) rs58154675
NM_182914.2(SYNE2):c.20519T>A (p.Val6840Asp) rs758858068
NM_182914.2(SYNE2):c.20523C>T (p.Pro6841=) rs751852545
NM_182914.2(SYNE2):c.20524G>A (p.Gly6842Ser) rs201538331
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.20542C>T (p.Arg6848Cys) rs201472187
NM_182914.2(SYNE2):c.20547C>T (p.Ser6849=) rs371041220
NM_182914.2(SYNE2):c.20562G>T (p.Val6854=) rs755188684
NM_182914.2(SYNE2):c.20590C>T (p.Leu6864Phe) rs201554266
NM_182914.2(SYNE2):c.20596C>T (p.Leu6866=) rs141474837
NM_182914.2(SYNE2):c.20641G>C (p.Asp6881His) rs1345320685
NM_182914.2(SYNE2):c.20654C>G (p.Thr6885Ser) rs1596340525
NM_182914.2(SYNE2):c.20702C>A (p.Thr6901Asn) rs760936547
NM_182914.2(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182914.2(SYNE2):c.20721A>G (p.Thr6907=) rs886050601
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.2260A>C (p.Lys754Gln) rs201892861
NM_182914.2(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405
NM_182914.2(SYNE2):c.2279A>G (p.Asp760Gly) rs1594681467
NM_182914.2(SYNE2):c.22C>T (p.Pro8Ser) rs2275017
NM_182914.2(SYNE2):c.2347C>T (p.Leu783Phe) rs766796829
NM_182914.2(SYNE2):c.238C>T (p.Pro80Ser) rs1595771772
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.2646+6A>T rs768967034
NM_182914.2(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852
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.2827G>T (p.Asp943Tyr) rs543556397
NM_182914.2(SYNE2):c.2839G>A (p.Gly947Arg) rs1157242509
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.2940+6A>G rs371534076
NM_182914.2(SYNE2):c.2960G>A (p.Gly987Asp) rs769535616
NM_182914.2(SYNE2):c.303A>G (p.Leu101=) rs371277498
NM_182914.2(SYNE2):c.3054A>C (p.Leu1018=) rs751740731
NM_182914.2(SYNE2):c.3102C>T (p.Ser1034=) rs886050580
NM_182914.2(SYNE2):c.3103G>A (p.Glu1035Lys) rs770698687
NM_182914.2(SYNE2):c.3141G>A (p.Thr1047=) rs372376442
NM_182914.2(SYNE2):c.3177T>G (p.Asn1059Lys) rs1594758891
NM_182914.2(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801
NM_182914.2(SYNE2):c.3267T>G (p.Phe1089Leu) rs201858632
NM_182914.2(SYNE2):c.3275C>T (p.Ala1092Val) rs1555421275
NM_182914.2(SYNE2):c.3311T>C (p.Met1104Thr) rs778313924
NM_182914.2(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227
NM_182914.2(SYNE2):c.3408G>T (p.Arg1136Ser) rs762347655
NM_182914.2(SYNE2):c.3452G>A (p.Cys1151Tyr) rs1555421819
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.3550G>A (p.Val1184Met) rs377084463
NM_182914.2(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697
NM_182914.2(SYNE2):c.3567G>T (p.Lys1189Asn) rs776221033
NM_182914.2(SYNE2):c.358A>C (p.Asn120His) rs1595773305
NM_182914.2(SYNE2):c.3639-12C>T rs750618626
NM_182914.2(SYNE2):c.3639-6A>G rs369878032
NM_182914.2(SYNE2):c.3715C>G (p.Leu1239Val) rs886050581
NM_182914.2(SYNE2):c.3739C>A (p.Gln1247Lys) rs1594783691
NM_182914.2(SYNE2):c.3767G>A (p.Arg1256His) rs183356628
NM_182914.2(SYNE2):c.3773A>G (p.Tyr1258Cys) rs370541277
NM_182914.2(SYNE2):c.3797A>G (p.Asp1266Gly) rs752582359
NM_182914.2(SYNE2):c.3804A>G (p.Ile1268Met) rs753563194
NM_182914.2(SYNE2):c.3806C>T (p.Ala1269Val) rs757090585
NM_182914.2(SYNE2):c.3830G>A (p.Arg1277His) rs367549881
NM_182914.2(SYNE2):c.3885C>G (p.His1295Gln) rs570341792
NM_182914.2(SYNE2):c.3885C>T (p.His1295=) rs570341792
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.4013C>T (p.Ser1338Phe) rs1226719188
NM_182914.2(SYNE2):c.4070C>T (p.Thr1357Met) rs769845003
NM_182914.2(SYNE2):c.4071G>A (p.Thr1357=) rs371506443
NM_182914.2(SYNE2):c.4126C>T (p.His1376Tyr) rs765665332
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.4190C>A (p.Thr1397Asn) rs760136466
NM_182914.2(SYNE2):c.4252G>C (p.Val1418Leu) rs770898049
NM_182914.2(SYNE2):c.4285C>T (p.Leu1429=) rs761375106
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.4351A>G (p.Ser1451Gly) rs535438406
NM_182914.2(SYNE2):c.4418T>G (p.Leu1473Arg) rs772693998
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.4587A>G (p.Gln1529=) rs774411048
NM_182914.2(SYNE2):c.4614A>G (p.Lys1538=) rs572672283
NM_182914.2(SYNE2):c.4640T>C (p.Leu1547Ser) rs1594836938
NM_182914.2(SYNE2):c.4697G>A (p.Gly1566Glu) rs906789317
NM_182914.2(SYNE2):c.4704G>C (p.Glu1568Asp) rs112802347
NM_182914.2(SYNE2):c.4738G>T (p.Val1580Phe) rs190340029
NM_182914.2(SYNE2):c.475G>T (p.Val159Phe) rs1323596481
NM_182914.2(SYNE2):c.4785C>A (p.Asn1595Lys) rs199704293
NM_182914.2(SYNE2):c.478G>A (p.Asp160Asn) rs1566887934
NM_182914.2(SYNE2):c.4842C>T (p.Pro1614=) rs148564084
NM_182914.2(SYNE2):c.4846T>C (p.Phe1616Leu) rs764521226
NM_182914.2(SYNE2):c.4849G>A (p.Glu1617Lys) rs780380973
NM_182914.2(SYNE2):c.4861A>C (p.Asn1621His) rs746284520
NM_182914.2(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863
NM_182914.2(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942
NM_182914.2(SYNE2):c.4924G>A (p.Gly1642Ser) rs1555431607
NM_182914.2(SYNE2):c.4931C>T (p.Ala1644Val) rs771776215
NM_182914.2(SYNE2):c.4933C>G (p.Leu1645Val) rs1555431632
NM_182914.2(SYNE2):c.4994C>T (p.Ala1665Val) rs200143024
NM_182914.2(SYNE2):c.5020T>C (p.Leu1674=) rs201666704
NM_182914.2(SYNE2):c.5098G>A (p.Val1700Met) rs372345929
NM_182914.2(SYNE2):c.5100G>A (p.Val1700=) rs376691167
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.5159A>C (p.Glu1720Ala) rs1013597826
NM_182914.2(SYNE2):c.5174A>G (p.Asn1725Ser) rs200554446
NM_182914.2(SYNE2):c.5187T>A (p.His1729Gln) rs116597541
NM_182914.2(SYNE2):c.521A>G (p.Lys174Arg) rs139238702
NM_182914.2(SYNE2):c.5253G>A (p.Arg1751=) rs375022006
NM_182914.2(SYNE2):c.5284G>A (p.Gly1762Arg) rs754809587
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.5529A>G (p.Gln1843=) rs757852900
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.5646G>T (p.Leu1882Phe) rs747913558
NM_182914.2(SYNE2):c.5696A>G (p.Lys1899Arg) rs886050582
NM_182914.2(SYNE2):c.5710C>T (p.His1904Tyr) rs762428121
NM_182914.2(SYNE2):c.5726A>G (p.His1909Arg) rs750862490
NM_182914.2(SYNE2):c.5737C>T (p.Leu1913Phe) rs780436538
NM_182914.2(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702
NM_182914.2(SYNE2):c.58G>T (p.Asp20Tyr) rs770930910
NM_182914.2(SYNE2):c.5906T>C (p.Met1969Thr) rs4902264
NM_182914.2(SYNE2):c.5915C>T (p.Pro1972Leu) rs113146258
NM_182914.2(SYNE2):c.593A>G (p.Tyr198Cys) rs377436719
NM_182914.2(SYNE2):c.5987T>C (p.Leu1996Ser) rs780750526
NM_182914.2(SYNE2):c.605A>G (p.Asn202Ser) rs746518493
NM_182914.2(SYNE2):c.6071C>T (p.Thr2024Ile) rs201401811
NM_182914.2(SYNE2):c.6096C>T (p.Ile2032=) rs374097374
NM_182914.2(SYNE2):c.6119C>T (p.Pro2040Leu) rs1277532834
NM_182914.2(SYNE2):c.6247A>T (p.Ile2083Phe) rs200739844
NM_182914.2(SYNE2):c.6321C>T (p.Ser2107=) rs143410137
NM_182914.2(SYNE2):c.6330G>A (p.Pro2110=) rs779101206
NM_182914.2(SYNE2):c.6404+5A>G rs571176673
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.6579A>T (p.Gln2193His) rs373963217
NM_182914.2(SYNE2):c.6588A>G (p.Thr2196=) rs367788980
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.6685C>G (p.Leu2229Val) rs375543783
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.671G>A (p.Arg224Gln) rs764128650
NM_182914.2(SYNE2):c.6736G>A (p.Gly2246Ser) rs774737023
NM_182914.2(SYNE2):c.6746G>A (p.Arg2249Gln) rs764036360
NM_182914.2(SYNE2):c.6764A>G (p.Gln2255Arg) rs750058499
NM_182914.2(SYNE2):c.6772G>A (p.Val2258Ile) rs200336916
NM_182914.2(SYNE2):c.6793T>C (p.Leu2265=) rs746513307
NM_182914.2(SYNE2):c.6817G>C (p.Val2273Leu) rs1274502678
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.6880-4G>A rs776756586
NM_182914.2(SYNE2):c.6880-5C>T rs187173455
NM_182914.2(SYNE2):c.6945C>T (p.Ser2315=) rs564454573
NM_182914.2(SYNE2):c.7010G>A (p.Cys2337Tyr) rs762996751
NM_182914.2(SYNE2):c.7028A>G (p.Glu2343Gly) rs770601583
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.7093C>T (p.Arg2365Cys) rs781422804
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.7139A>C (p.Lys2380Thr) rs1157953928
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.7222-9G>A rs373161954
NM_182914.2(SYNE2):c.7223A>T (p.Asp2408Val) rs550374867
NM_182914.2(SYNE2):c.7254A>C (p.Gln2418His) rs984046422
NM_182914.2(SYNE2):c.7297G>A (p.Glu2433Lys) rs376116911
NM_182914.2(SYNE2):c.7301G>A (p.Arg2434Gln) rs202200597
NM_182914.2(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647
NM_182914.2(SYNE2):c.7321A>G (p.Asn2441Asp) rs754057512
NM_182914.2(SYNE2):c.7437A>T (p.Glu2479Asp) rs375700055
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.7483G>A (p.Gly2495Arg) rs201036334
NM_182914.2(SYNE2):c.7569A>T (p.Arg2523Ser) rs763858839
NM_182914.2(SYNE2):c.7606A>G (p.Met2536Val) rs201406395
NM_182914.2(SYNE2):c.7617G>A (p.Leu2539=) rs200359168
NM_182914.2(SYNE2):c.7643+6T>C rs144143344
NM_182914.2(SYNE2):c.7643+9A>G rs115809466
NM_182914.2(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107
NM_182914.2(SYNE2):c.7694C>T (p.Ala2565Val) rs200447122
NM_182914.2(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352
NM_182914.2(SYNE2):c.7720T>A (p.Leu2574Ile) rs759148677
NM_182914.2(SYNE2):c.7762G>A (p.Val2588Met) rs373690979
NM_182914.2(SYNE2):c.7768G>C (p.Asp2590His) rs1555452706
NM_182914.2(SYNE2):c.7872A>C (p.Glu2624Asp) rs140325055
NM_182914.2(SYNE2):c.7889C>A (p.Thr2630Asn) rs1595152259
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.8005A>G (p.Thr2669Ala) rs374946613
NM_182914.2(SYNE2):c.802G>A (p.Asp268Asn) rs1555400535
NM_182914.2(SYNE2):c.8041G>A (p.Val2681Ile) rs150946074
NM_182914.2(SYNE2):c.8069T>C (p.Met2690Thr) rs560226719
NM_182914.2(SYNE2):c.8148G>T (p.Leu2716Phe) rs529012269
NM_182914.2(SYNE2):c.8232G>T (p.Lys2744Asn) rs886050583
NM_182914.2(SYNE2):c.8249T>G (p.Leu2750Arg) rs750371615
NM_182914.2(SYNE2):c.8272C>T (p.Pro2758Ser) rs771389608
NM_182914.2(SYNE2):c.8348A>T (p.Glu2783Val) rs773304417
NM_182914.2(SYNE2):c.8404A>G (p.Ser2802Gly) rs1890908
NM_182914.2(SYNE2):c.8417A>G (p.Asn2806Ser) rs765407182
NM_182914.2(SYNE2):c.8422C>T (p.Leu2808=) rs35960129
NM_182914.2(SYNE2):c.844C>T (p.Leu282=) rs1595894315
NM_182914.2(SYNE2):c.8558G>A (p.Ser2853Asn) rs763671728
NM_182914.2(SYNE2):c.8579G>C (p.Arg2860Thr) rs752110658
NM_182914.2(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894
NM_182914.2(SYNE2):c.860A>T (p.Asp287Val) rs1595894380
NM_182914.2(SYNE2):c.865C>T (p.Pro289Ser) rs1459614876
NM_182914.2(SYNE2):c.8691G>C (p.Glu2897Asp) rs758754933
NM_182914.2(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822
NM_182914.2(SYNE2):c.8786G>A (p.Arg2929Lys) rs1177149020
NM_182914.2(SYNE2):c.8824A>G (p.Ile2942Val) rs3829767
NM_182914.2(SYNE2):c.8849A>C (p.Glu2950Ala) rs540706990
NM_182914.2(SYNE2):c.8862G>A (p.Ala2954=) rs373930498
NM_182914.2(SYNE2):c.8862G>T (p.Ala2954=) rs373930498
NM_182914.2(SYNE2):c.8905C>G (p.Leu2969Val) rs773914389
NM_182914.2(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650
NM_182914.2(SYNE2):c.892A>C (p.Lys298Gln) rs866911879
NM_182914.2(SYNE2):c.8931T>C (p.Val2977=) rs1555453730
NM_182914.2(SYNE2):c.8964C>T (p.Leu2988=) rs374107455
NM_182914.2(SYNE2):c.8991G>A (p.Gln2997=) rs773209564
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.907A>G (p.Met303Val) rs377535370
NM_182914.2(SYNE2):c.9088G>A (p.Glu3030Lys) rs60466225
NM_182914.2(SYNE2):c.9140A>G (p.Lys3047Arg) rs201471505
NM_182914.2(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016
NM_182914.2(SYNE2):c.9231G>A (p.Pro3077=) rs199659722
NM_182914.2(SYNE2):c.9241C>T (p.Arg3081Trp) rs150085946
NM_182914.2(SYNE2):c.9252C>T (p.Ala3084=) rs200061977
NM_182914.2(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326
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>A (p.Lys3132=) rs566182360
NM_182914.2(SYNE2):c.9396G>C (p.Lys3132Asn) rs566182360
NM_182914.2(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197
NM_182914.2(SYNE2):c.9502A>G (p.Ile3168Val) rs193035848
NM_182914.2(SYNE2):c.9519G>A (p.Gln3173=) rs779254549
NM_182914.2(SYNE2):c.9610T>G (p.Cys3204Gly) rs531451940
NM_182914.2(SYNE2):c.9633T>C (p.Ala3211=) rs1335670113
NM_182914.2(SYNE2):c.9691C>T (p.Arg3231Cys) rs546650178
NM_182914.2(SYNE2):c.9700G>C (p.Glu3234Gln) rs372597797
NM_182914.2(SYNE2):c.9717G>T (p.Gln3239His) rs1428818552
NM_182914.2(SYNE2):c.9745-9A>G rs778028287
NM_182914.2(SYNE2):c.9757G>C (p.Asp3253His) rs8010911
NM_182914.2(SYNE2):c.9812G>A (p.Ser3271Asn) rs756481940
NM_182914.2(SYNE2):c.9813C>T (p.Ser3271=) rs764422613
NM_182914.2(SYNE2):c.9873A>G (p.Glu3291=) rs747745836
NM_182914.2(SYNE2):c.9893G>A (p.Arg3298Gln) rs770399154
NM_182914.2(SYNE2):c.990+10A>G rs145924910
NM_182914.2(SYNE2):c.9925_9926inv (p.His3309Cys)
NM_182914.2(SYNE2):c.9926A>G (p.His3309Arg) rs8010699
NM_182914.2(SYNE2):c.9926A>T (p.His3309Leu) rs8010699
NM_182914.2(SYNE2):c.9943G>A (p.Glu3315Lys) rs372982837
NM_182914.2(SYNE2):c.9974C>T (p.Ala3325Val) rs377173620
NM_182914.3(SYNE2):c.*300G>A
NM_182914.3(SYNE2):c.*372T>C
NM_182914.3(SYNE2):c.*461C>T
NM_182914.3(SYNE2):c.*521A>G
NM_182914.3(SYNE2):c.*574A>G
NM_182914.3(SYNE2):c.*59G>A
NM_182914.3(SYNE2):c.*807G>A
NM_182914.3(SYNE2):c.*819G>A
NM_182914.3(SYNE2):c.*820T>G
NM_182914.3(SYNE2):c.*824G>A
NM_182914.3(SYNE2):c.-149G>A
NM_182914.3(SYNE2):c.-52G>A
NM_182914.3(SYNE2):c.10060G>A (p.Ala3354Thr)
NM_182914.3(SYNE2):c.10275A>C (p.Arg3425Ser)
NM_182914.3(SYNE2):c.10378T>C (p.Trp3460Arg)
NM_182914.3(SYNE2):c.10431+6T>A
NM_182914.3(SYNE2):c.10631G>T (p.Ser3544Ile)
NM_182914.3(SYNE2):c.10669A>T (p.Ile3557Phe)
NM_182914.3(SYNE2):c.10721A>G (p.Asn3574Ser)
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met)
NM_182914.3(SYNE2):c.10802A>G (p.Gln3601Arg)
NM_182914.3(SYNE2):c.10864G>C (p.Glu3622Gln)
NM_182914.3(SYNE2):c.10990T>C (p.Cys3664Arg)
NM_182914.3(SYNE2):c.11023-14T>C
NM_182914.3(SYNE2):c.1105G>A (p.Ala369Thr)
NM_182914.3(SYNE2):c.11468A>G (p.His3823Arg)
NM_182914.3(SYNE2):c.114G>A (p.Thr38=)
NM_182914.3(SYNE2):c.11652G>T (p.Gln3884His)
NM_182914.3(SYNE2):c.11956G>A (p.Glu3986Lys)
NM_182914.3(SYNE2):c.11G>A (p.Ser4Asn)
NM_182914.3(SYNE2):c.12066A>G (p.Glu4022=)
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182914.3(SYNE2):c.12125T>C (p.Met4042Thr)
NM_182914.3(SYNE2):c.12253G>T (p.Ala4085Ser)
NM_182914.3(SYNE2):c.12314G>A (p.Arg4105Lys)
NM_182914.3(SYNE2):c.12368C>G (p.Ser4123Cys)
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn)
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)
NM_182914.3(SYNE2):c.12510A>G (p.Ile4170Met)
NM_182914.3(SYNE2):c.12547C>T (p.Pro4183Ser)
NM_182914.3(SYNE2):c.12767A>G (p.Asn4256Ser)
NM_182914.3(SYNE2):c.13159-3C>T
NM_182914.3(SYNE2):c.13371T>G (p.His4457Gln)
NM_182914.3(SYNE2):c.13422+6T>C
NM_182914.3(SYNE2):c.13534G>A (p.Ala4512Thr)
NM_182914.3(SYNE2):c.13612C>T (p.Leu4538=)
NM_182914.3(SYNE2):c.13622G>A (p.Ser4541Asn)
NM_182914.3(SYNE2):c.13630C>T (p.Leu4544Phe)
NM_182914.3(SYNE2):c.13814A>C (p.Glu4605Ala)
NM_182914.3(SYNE2):c.13918-13A>G
NM_182914.3(SYNE2):c.14020-15T>C
NM_182914.3(SYNE2):c.14252T>C (p.Val4751Ala)
NM_182914.3(SYNE2):c.14298C>G (p.Thr4766=)
NM_182914.3(SYNE2):c.14378T>C (p.Ile4793Thr)
NM_182914.3(SYNE2):c.14527T>C (p.Phe4843Leu)
NM_182914.3(SYNE2):c.14560C>G (p.Leu4854Val)
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met)
NM_182914.3(SYNE2):c.14676C>A (p.His4892Gln)
NM_182914.3(SYNE2):c.14676C>T (p.His4892=)
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu)
NM_182914.3(SYNE2):c.14908T>C (p.Trp4970Arg)
NM_182914.3(SYNE2):c.14984C>T (p.Ser4995Leu)
NM_182914.3(SYNE2):c.15092C>A (p.Ala5031Glu)
NM_182914.3(SYNE2):c.15159+1G>T
NM_182914.3(SYNE2):c.15189A>C (p.Lys5063Asn)
NM_182914.3(SYNE2):c.15233A>C (p.Gln5078Pro)
NM_182914.3(SYNE2):c.15243T>G (p.Asp5081Glu)
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.15413C>T (p.Thr5138Met)
NM_182914.3(SYNE2):c.15441G>T (p.Met5147Ile)
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)
NM_182914.3(SYNE2):c.15484-3T>C
NM_182914.3(SYNE2):c.15659C>G (p.Ala5220Gly)
NM_182914.3(SYNE2):c.15788C>T (p.Thr5263Ile)
NM_182914.3(SYNE2):c.15869A>G (p.Asn5290Ser)
NM_182914.3(SYNE2):c.16024G>A (p.Gly5342Ser)
NM_182914.3(SYNE2):c.16094+4T>A
NM_182914.3(SYNE2):c.16524T>C (p.Ser5508=)
NM_182914.3(SYNE2):c.16753C>T (p.Arg5585Cys)
NM_182914.3(SYNE2):c.16760+6A>G
NM_182914.3(SYNE2):c.16761-10A>G
NM_182914.3(SYNE2):c.16845A>G (p.Ala5615=)
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=)
NM_182914.3(SYNE2):c.16901A>G (p.Tyr5634Cys)
NM_182914.3(SYNE2):c.16905+4A>C
NM_182914.3(SYNE2):c.16985C>T (p.Thr5662Ile)
NM_182914.3(SYNE2):c.17115C>T (p.Phe5705=)
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His)
NM_182914.3(SYNE2):c.17328T>C (p.Thr5776=)
NM_182914.3(SYNE2):c.17672T>C (p.Ile5891Thr)
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=)
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=)
NM_182914.3(SYNE2):c.17908A>T (p.Lys5970Ter)
NM_182914.3(SYNE2):c.18015T>C (p.His6005=)
NM_182914.3(SYNE2):c.18312_18316del (p.Ser6105fs)
NM_182914.3(SYNE2):c.18566G>A (p.Arg6189Gln)
NM_182914.3(SYNE2):c.18631A>G (p.Thr6211Ala)
NM_182914.3(SYNE2):c.18660C>T (p.His6220=)
NM_182914.3(SYNE2):c.18691A>G (p.Arg6231Gly)
NM_182914.3(SYNE2):c.18851G>A (p.Arg6284His)
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln)
NM_182914.3(SYNE2):c.19333+7G>A
NM_182914.3(SYNE2):c.19394C>T (p.Ala6465Val)
NM_182914.3(SYNE2):c.19402+10C>T
NM_182914.3(SYNE2):c.19543-8C>A
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr)
NM_182914.3(SYNE2):c.19861-13C>G
NM_182914.3(SYNE2):c.1996C>A (p.Gln666Lys)
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys)
NM_182914.3(SYNE2):c.19985G>T (p.Ser6662Ile)
NM_182914.3(SYNE2):c.20038C>G (p.Arg6680Gly)
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln)
NM_182914.3(SYNE2):c.20068C>T (p.His6690Tyr)
NM_182914.3(SYNE2):c.20102C>T (p.Ala6701Val)
NM_182914.3(SYNE2):c.20190+14C>T
NM_182914.3(SYNE2):c.20296_20298GAA[1] (p.Glu6767del)
NM_182914.3(SYNE2):c.20381A>G (p.Gln6794Arg)
NM_182914.3(SYNE2):c.20551C>T (p.Leu6851Phe)
NM_182914.3(SYNE2):c.20595_20612del (p.Leu6866_Leu6871del)
NM_182914.3(SYNE2):c.20637_20639AGA[1] (p.Glu6880del) rs781275793
NM_182914.3(SYNE2):c.2300A>T (p.Glu767Val)
NM_182914.3(SYNE2):c.2314-9T>C
NM_182914.3(SYNE2):c.2493T>G (p.Ile831Met)
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys)
NM_182914.3(SYNE2):c.2744T>C (p.Leu915Ser)
NM_182914.3(SYNE2):c.2781+4A>G
NM_182914.3(SYNE2):c.2781+5G>A
NM_182914.3(SYNE2):c.287A>G (p.His96Arg)
NM_182914.3(SYNE2):c.28G>C (p.Glu10Gln)
NM_182914.3(SYNE2):c.2900T>C (p.Ile967Thr)
NM_182914.3(SYNE2):c.3272T>C (p.Leu1091Pro)
NM_182914.3(SYNE2):c.3287G>A (p.Arg1096Lys)
NM_182914.3(SYNE2):c.3325A>G (p.Ser1109Gly)
NM_182914.3(SYNE2):c.3445A>C (p.Ser1149Arg)
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp)
NM_182914.3(SYNE2):c.3696_3698TCT[1] (p.Leu1234del)
NM_182914.3(SYNE2):c.3788A>C (p.Asn1263Thr)
NM_182914.3(SYNE2):c.3829C>T (p.Arg1277Cys)
NM_182914.3(SYNE2):c.3883C>A (p.His1295Asn)
NM_182914.3(SYNE2):c.4222A>G (p.Ile1408Val)
NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro)
NM_182914.3(SYNE2):c.4235A>G (p.Glu1412Gly)
NM_182914.3(SYNE2):c.424C>G (p.Gln142Glu)
NM_182914.3(SYNE2):c.4309A>G (p.Asn1437Asp)
NM_182914.3(SYNE2):c.4375A>C (p.Thr1459Pro)
NM_182914.3(SYNE2):c.4398-11T>A
NM_182914.3(SYNE2):c.4474A>G (p.Asn1492Asp)
NM_182914.3(SYNE2):c.4513G>A (p.Val1505Met)
NM_182914.3(SYNE2):c.4523A>G (p.Gln1508Arg)
NM_182914.3(SYNE2):c.4585C>T (p.Gln1529Ter)
NM_182914.3(SYNE2):c.4728+9A>G
NM_182914.3(SYNE2):c.5068G>A (p.Glu1690Lys)
NM_182914.3(SYNE2):c.5084A>G (p.Glu1695Gly)
NM_182914.3(SYNE2):c.5423C>G (p.Thr1808Ser)
NM_182914.3(SYNE2):c.5728G>A (p.Val1910Met)
NM_182914.3(SYNE2):c.5796G>T (p.Gln1932His)
NM_182914.3(SYNE2):c.5801G>A (p.Arg1934Gln)
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=)
NM_182914.3(SYNE2):c.5895A>G (p.Lys1965=)
NM_182914.3(SYNE2):c.6011G>A (p.Gly2004Glu)
NM_182914.3(SYNE2):c.6058G>C (p.Asp2020His)
NM_182914.3(SYNE2):c.6172A>G (p.Lys2058Glu)
NM_182914.3(SYNE2):c.6302T>C (p.Met2101Thr)
NM_182914.3(SYNE2):c.6307C>G (p.Gln2103Glu)
NM_182914.3(SYNE2):c.6329C>T (p.Pro2110Leu)
NM_182914.3(SYNE2):c.6470T>C (p.Met2157Thr)
NM_182914.3(SYNE2):c.6742G>A (p.Val2248Ile)
NM_182914.3(SYNE2):c.6907G>A (p.Asp2303Asn)
NM_182914.3(SYNE2):c.718G>A (p.Asp240Asn)
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.7877A>G (p.Asp2626Gly)
NM_182914.3(SYNE2):c.79+3A>T
NM_182914.3(SYNE2):c.79+5T>A
NM_182914.3(SYNE2):c.7974A>C (p.Glu2658Asp)
NM_182914.3(SYNE2):c.8013C>G (p.Asp2671Glu)
NM_182914.3(SYNE2):c.8171A>T (p.Glu2724Val)
NM_182914.3(SYNE2):c.8351C>T (p.Ser2784Leu)
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe)
NM_182914.3(SYNE2):c.8567T>G (p.Leu2856Arg)
NM_182914.3(SYNE2):c.8775C>T (p.Asn2925=)
NM_182914.3(SYNE2):c.888+11A>G
NM_182914.3(SYNE2):c.888+13A>G
NM_182914.3(SYNE2):c.8890C>T (p.Arg2964Cys)
NM_182914.3(SYNE2):c.9149C>G (p.Ala3050Gly)
NM_182914.3(SYNE2):c.9345C>G (p.Phe3115Leu)
NM_182914.3(SYNE2):c.9618T>C (p.Ile3206=)
NM_182914.3(SYNE2):c.9733G>T (p.Asp3245Tyr)
NM_182914.3(SYNE2):c.9999A>T (p.Leu3333Phe)

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