ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant Emery-Dreifuss muscular dystrophy by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 902
Download table as spreadsheet
HGVS dbSNP
NC_000006.11:g.(?_152443551)_(152534914_?)dup
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.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_182914.2(SYNE2):c.10218G>T (p.Leu3406Phe) rs201421128
NM_182914.2(SYNE2):c.10267A>T (p.Ile3423Phe) rs779367486
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.10552G>A (p.Gly3518Arg) rs1555462898
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.10844C>T (p.Pro3615Leu) rs549458287
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.11047T>A (p.Ser3683Thr) rs199977941
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.11323T>A (p.Cys3775Ser) rs753899883
NM_182914.2(SYNE2):c.11336A>G (p.Gln3779Arg) rs538884693
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.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.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.11905C>T (p.Arg3969Trp) rs141498263
NM_182914.2(SYNE2):c.1195C>A (p.Leu399Ile) rs751800008
NM_182914.2(SYNE2):c.11976+5G>A rs772490248
NM_182914.2(SYNE2):c.12118G>A (p.Glu4040Lys) rs1245656240
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.12325A>G (p.Met4109Val) rs1296085055
NM_182914.2(SYNE2):c.12370G>T (p.Val4124Leu) rs370255444
NM_182914.2(SYNE2):c.12381+5G>A rs771680833
NM_182914.2(SYNE2):c.12381+6G>A rs781486571
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.12529A>G (p.Met4177Val) rs772354856
NM_182914.2(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235
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.12695C>T (p.Pro4232Leu) rs139959852
NM_182914.2(SYNE2):c.12796G>A (p.Ala4266Thr) rs1316995826
NM_182914.2(SYNE2):c.128C>T (p.Ser43Leu) rs754783984
NM_182914.2(SYNE2):c.12941C>T (p.Ala4314Val) rs769993001
NM_182914.2(SYNE2):c.13020_13023+12delinsGATCT rs1555495562
NM_182914.2(SYNE2):c.13021C>G (p.Gln4341Glu) rs367698099
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.13423G>A (p.Val4475Ile) rs200498250
NM_182914.2(SYNE2):c.13466A>G (p.Asn4489Ser) rs747349342
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.13687G>C (p.Gly4563Arg) rs1595697916
NM_182914.2(SYNE2):c.1384A>G (p.Lys462Glu) rs753039223
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.14053G>T (p.Ala4685Ser) rs779457100
NM_182914.2(SYNE2):c.14104C>A (p.Pro4702Thr) rs111880729
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.14196C>G (p.Ser4732Arg) rs749317592
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.14327T>C (p.Ile4776Thr) rs563179946
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.14518T>C (p.Trp4840Arg) rs148323208
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.14812A>G (p.Arg4938Gly) rs1258752132
NM_182914.2(SYNE2):c.14900T>C (p.Leu4967Pro) rs1555506605
NM_182914.2(SYNE2):c.14976+3A>G rs747632731
NM_182914.2(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017
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.15165A>G (p.Gln5055=) rs145021738
NM_182914.2(SYNE2):c.15187A>C (p.Lys5063Gln) rs746864967
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.15527A>T (p.Glu5176Val) rs1595828652
NM_182914.2(SYNE2):c.15667T>A (p.Ser5223Thr) rs150361559
NM_182914.2(SYNE2):c.15749G>A (p.Arg5250Gln) rs201962497
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.15929T>C (p.Leu5310Ser) rs199976741
NM_182914.2(SYNE2):c.16037G>A (p.Gly5346Asp) rs751652922
NM_182914.2(SYNE2):c.16109A>C (p.Asn5370Thr) rs760687493
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.16480-1G>A rs1595931919
NM_182914.2(SYNE2):c.16510G>A (p.Val5504Ile) rs1405152996
NM_182914.2(SYNE2):c.16605+10A>G rs761193543
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.16717C>T (p.Arg5573Trp) rs138323662
NM_182914.2(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847
NM_182914.2(SYNE2):c.16737G>A (p.Thr5579=) rs147156341
NM_182914.2(SYNE2):c.16754G>A (p.Arg5585His) rs141144237
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.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.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.17423C>T (p.Thr5808Ile) rs139361264
NM_182914.2(SYNE2):c.17431A>G (p.Thr5811Ala) rs1596007501
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>C (p.Glu5847Gln) rs201427580
NM_182914.2(SYNE2):c.17560C>A (p.Leu5854Ile) rs773797629
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.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.1787G>A (p.Arg596His) rs764379968
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.18038+5G>A rs1328692834
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.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.18304G>A (p.Glu6102Lys) rs560736067
NM_182914.2(SYNE2):c.18346C>T (p.Arg6116Cys) rs762858190
NM_182914.2(SYNE2):c.18509C>T (p.Thr6170Met) rs200893937
NM_182914.2(SYNE2):c.18622C>T (p.Arg6208Cys) rs377305355
NM_182914.2(SYNE2):c.18662A>G (p.Glu6221Gly) rs1410409309
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.19310G>A (p.Gly6437Asp) rs1555551887
NM_182914.2(SYNE2):c.19328T>C (p.Leu6443Pro) rs1555551908
NM_182914.2(SYNE2):c.19391A>C (p.Lys6464Thr) rs1555552449
NM_182914.2(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
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.19892C>T (p.Ala6631Val) rs747881699
NM_182914.2(SYNE2):c.19973T>A (p.Leu6658His) rs1555558485
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+5G>A rs774599138
NM_182914.2(SYNE2):c.20073G>C (p.Gln6691His) rs1555559928
NM_182914.2(SYNE2):c.20140G>A (p.Asp6714Asn) rs751000273
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.20315T>C (p.Ile6772Thr) rs1474759634
NM_182914.2(SYNE2):c.20338C>G (p.Arg6780Gly) rs138437515
NM_182914.2(SYNE2):c.20366C>A (p.Ala6789Asp) rs765411016
NM_182914.2(SYNE2):c.20423C>T (p.Ser6808Leu) rs372922867
NM_182914.2(SYNE2):c.20428G>T (p.Asp6810Tyr) rs1370786771
NM_182914.2(SYNE2):c.2044A>C (p.Thr682Pro) rs1594659210
NM_182914.2(SYNE2):c.20470-7C>G rs1555563835
NM_182914.2(SYNE2):c.20519T>A (p.Val6840Asp) rs758858068
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.20542C>T (p.Arg6848Cys) rs201472187
NM_182914.2(SYNE2):c.20590C>T (p.Leu6864Phe) rs201554266
NM_182914.2(SYNE2):c.20641G>C (p.Asp6881His) rs1345320685
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.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.2477A>G (p.Asn826Ser) rs372150492
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.2940+6A>G rs371534076
NM_182914.2(SYNE2):c.3103G>A (p.Glu1035Lys) rs770698687
NM_182914.2(SYNE2):c.3177T>G (p.Asn1059Lys) rs1594758891
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.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.3567G>T (p.Lys1189Asn) rs776221033
NM_182914.2(SYNE2):c.358A>C (p.Asn120His) rs1595773305
NM_182914.2(SYNE2):c.3739C>A (p.Gln1247Lys) rs1594783691
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.3885C>G (p.His1295Gln) rs570341792
NM_182914.2(SYNE2):c.4013C>T (p.Ser1338Phe) rs1226719188
NM_182914.2(SYNE2):c.4126C>T (p.His1376Tyr) rs765665332
NM_182914.2(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282
NM_182914.2(SYNE2):c.4252G>C (p.Val1418Leu) rs770898049
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.4587A>G (p.Gln1529=) rs774411048
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.478G>A (p.Asp160Asn) rs1566887934
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.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.5098G>A (p.Val1700Met) rs372345929
NM_182914.2(SYNE2):c.5155A>G (p.Met1719Val) rs189676187
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.521A>G (p.Lys174Arg) rs139238702
NM_182914.2(SYNE2):c.5529A>G (p.Gln1843=) rs757852900
NM_182914.2(SYNE2):c.5646G>T (p.Leu1882Phe) rs747913558
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.58G>T (p.Asp20Tyr) rs770930910
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.605A>G (p.Asn202Ser) rs746518493
NM_182914.2(SYNE2):c.6119C>T (p.Pro2040Leu) rs1277532834
NM_182914.2(SYNE2):c.6404+5A>G rs571176673
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.6685C>G (p.Leu2229Val) rs375543783
NM_182914.2(SYNE2):c.671G>A (p.Arg224Gln) rs764128650
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.6817G>C (p.Val2273Leu) rs1274502678
NM_182914.2(SYNE2):c.7028A>G (p.Glu2343Gly) rs770601583
NM_182914.2(SYNE2):c.7093C>T (p.Arg2365Cys) rs781422804
NM_182914.2(SYNE2):c.7139A>C (p.Lys2380Thr) rs1157953928
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.7569A>T (p.Arg2523Ser) rs763858839
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.7889C>A (p.Thr2630Asn) rs1595152259
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.8069T>C (p.Met2690Thr) rs560226719
NM_182914.2(SYNE2):c.8148G>T (p.Leu2716Phe) rs529012269
NM_182914.2(SYNE2):c.8249T>G (p.Leu2750Arg) rs750371615
NM_182914.2(SYNE2):c.8348A>T (p.Glu2783Val) rs773304417
NM_182914.2(SYNE2):c.8417A>G (p.Asn2806Ser) rs765407182
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.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.8786G>A (p.Arg2929Lys) rs1177149020
NM_182914.2(SYNE2):c.8849A>C (p.Glu2950Ala) rs540706990
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.9088G>A (p.Glu3030Lys) rs60466225
NM_182914.2(SYNE2):c.9241C>T (p.Arg3081Trp) rs150085946
NM_182914.2(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197
NM_182914.2(SYNE2):c.9610T>G (p.Cys3204Gly) rs531451940
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.9812G>A (p.Ser3271Asn) rs756481940
NM_182914.2(SYNE2):c.9893G>A (p.Arg3298Gln) rs770399154
NM_182914.2(SYNE2):c.9925_9926inv (p.His3309Cys)
NM_182914.2(SYNE2):c.9926A>T (p.His3309Leu) rs8010699
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.10864G>C (p.Glu3622Gln)
NM_182914.3(SYNE2):c.10990T>C (p.Cys3664Arg)
NM_182914.3(SYNE2):c.11G>A (p.Ser4Asn)
NM_182914.3(SYNE2):c.12253G>T (p.Ala4085Ser)
NM_182914.3(SYNE2):c.12314G>A (p.Arg4105Lys)
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)
NM_182914.3(SYNE2):c.12510A>G (p.Ile4170Met)
NM_182914.3(SYNE2):c.12767A>G (p.Asn4256Ser)
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.13814A>C (p.Glu4605Ala)
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.14676C>A (p.His4892Gln)
NM_182914.3(SYNE2):c.14908T>C (p.Trp4970Arg)
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.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.16753C>T (p.Arg5585Cys)
NM_182914.3(SYNE2):c.16761-10A>G
NM_182914.3(SYNE2):c.16905+4A>C
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His)
NM_182914.3(SYNE2):c.17908A>T (p.Lys5970Ter)
NM_182914.3(SYNE2):c.18312_18316del (p.Ser6105fs)
NM_182914.3(SYNE2):c.18566G>A (p.Arg6189Gln)
NM_182914.3(SYNE2):c.18851G>A (p.Arg6284His)
NM_182914.3(SYNE2):c.19394C>T (p.Ala6465Val)
NM_182914.3(SYNE2):c.19543-8C>A
NM_182914.3(SYNE2):c.19985G>T (p.Ser6662Ile)
NM_182914.3(SYNE2):c.20102C>T (p.Ala6701Val)
NM_182914.3(SYNE2):c.20296_20298GAA[1] (p.Glu6767del)
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.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.28G>C (p.Glu10Gln)
NM_182914.3(SYNE2):c.2900T>C (p.Ile967Thr)
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.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.4231T>C (p.Ser1411Pro)
NM_182914.3(SYNE2):c.424C>G (p.Gln142Glu)
NM_182914.3(SYNE2):c.4309A>G (p.Asn1437Asp)
NM_182914.3(SYNE2):c.4474A>G (p.Asn1492Asp)
NM_182914.3(SYNE2):c.4513G>A (p.Val1505Met)
NM_182914.3(SYNE2):c.4585C>T (p.Gln1529Ter)
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.6011G>A (p.Gly2004Glu)
NM_182914.3(SYNE2):c.6172A>G (p.Lys2058Glu)
NM_182914.3(SYNE2):c.6307C>G (p.Gln2103Glu)
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.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_182961.4(SYNE1):c.10060G>C (p.Glu3354Gln) rs773410652
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys) rs774710219
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val) rs748579024
NM_182961.4(SYNE1):c.10181A>T (p.Tyr3394Phe) rs754599705
NM_182961.4(SYNE1):c.1034A>C (p.Gln345Pro) rs200003096
NM_182961.4(SYNE1):c.1047+4T>G rs9397106
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser) rs776816480
NM_182961.4(SYNE1):c.10608G>A (p.Gln3536=)
NM_182961.4(SYNE1):c.10669G>A (p.Glu3557Lys)
NM_182961.4(SYNE1):c.10709G>A (p.Arg3570Gln) rs751191478
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser) rs148212715
NM_182961.4(SYNE1):c.10786G>T (p.Val3596Leu)
NM_182961.4(SYNE1):c.1078A>G (p.Met360Val)
NM_182961.4(SYNE1):c.10799T>C (p.Leu3600Ser)
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His) rs758415122
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744
NM_182961.4(SYNE1):c.11253+6C>A
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg) rs780693119
NM_182961.4(SYNE1):c.11413C>T (p.Arg3805Trp) rs572106956
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met) rs375577011
NM_182961.4(SYNE1):c.11486C>T (p.Thr3829Ile) rs770523249
NM_182961.4(SYNE1):c.11656C>A (p.Leu3886Met) rs755039909
NM_182961.4(SYNE1):c.11668G>A (p.Val3890Ile) rs760680769
NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp) rs750372071
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534
NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr)
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu) rs375752705
NM_182961.4(SYNE1):c.12023C>A (p.Ala4008Asp) rs137985190
NM_182961.4(SYNE1):c.12035G>A (p.Gly4012Asp) rs745342797
NM_182961.4(SYNE1):c.12100G>A (p.Glu4034Lys) rs746532554
NM_182961.4(SYNE1):c.12122G>A (p.Arg4041Gln) rs771461121
NM_182961.4(SYNE1):c.12127G>A (p.Asp4043Asn) rs369515853
NM_182961.4(SYNE1):c.12128A>T (p.Asp4043Val)
NM_182961.4(SYNE1):c.12181C>T (p.Pro4061Ser) rs780777858
NM_182961.4(SYNE1):c.12182C>T (p.Pro4061Leu) rs148036239
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn) rs1366322267
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val) rs886044158
NM_182961.4(SYNE1):c.12226G>A (p.Val4076Ile)
NM_182961.4(SYNE1):c.12291T>G (p.Cys4097Trp) rs1554492224
NM_182961.4(SYNE1):c.12302A>G (p.Asn4101Ser)
NM_182961.4(SYNE1):c.12351+4A>C rs375086691
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys) rs139139296
NM_182961.4(SYNE1):c.1244G>A (p.Gly415Asp)
NM_182961.4(SYNE1):c.12457C>A (p.Leu4153Met)
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys) rs145738035
NM_182961.4(SYNE1):c.12734G>A (p.Cys4245Tyr) rs1590300572
NM_182961.4(SYNE1):c.12790G>A (p.Ala4264Thr)
NM_182961.4(SYNE1):c.12795A>G (p.Arg4265=) rs1554474578
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr) rs200140440
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu) rs751661906
NM_182961.4(SYNE1):c.13050G>T (p.Gln4350His) rs34464554
NM_182961.4(SYNE1):c.13102G>A (p.Ala4368Thr) rs201900423
NM_182961.4(SYNE1):c.13231G>T (p.Val4411Phe)
NM_182961.4(SYNE1):c.13307G>A (p.Cys4436Tyr)
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp) rs75153800
NM_182961.4(SYNE1):c.13433T>C (p.Phe4478Ser) rs886042314
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys) rs778601377
NM_182961.4(SYNE1):c.13436G>A (p.Arg4479His) rs768085752
NM_182961.4(SYNE1):c.13436G>T (p.Arg4479Leu) rs768085752
NM_182961.4(SYNE1):c.13532C>T (p.Thr4511Ile) rs1554471456
NM_182961.4(SYNE1):c.13598T>C (p.Leu4533Pro)
NM_182961.4(SYNE1):c.13628A>T (p.Tyr4543Phe) rs138770612
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr) rs368653411
NM_182961.4(SYNE1):c.13751T>A (p.Val4584Asp) rs968829958
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys) rs371375804
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro) rs762392590
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464
NM_182961.4(SYNE1):c.13851_13853TCT[1] (p.Leu4620del) rs1085307610
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu) rs377099959
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg) rs141397112
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His) rs199673397
NM_182961.4(SYNE1):c.13949G>A (p.Arg4650Gln) rs763557674
NM_182961.4(SYNE1):c.13952A>G (p.Gln4651Arg) rs374697325
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785
NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr)
NM_182961.4(SYNE1):c.14116G>A (p.Val4706Ile) rs374596074
NM_182961.4(SYNE1):c.14152G>A (p.Ala4718Thr) rs759856569
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys) rs35484093
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.14365C>G (p.Gln4789Glu) rs764205112
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met) rs373040273
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764
NM_182961.4(SYNE1):c.14513A>G (p.His4838Arg)
NM_182961.4(SYNE1):c.14561C>T (p.Ala4854Val)
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His) rs369433602
NM_182961.4(SYNE1):c.14671A>G (p.Thr4891Ala) rs534678815
NM_182961.4(SYNE1):c.14695T>C (p.Trp4899Arg) rs753891807
NM_182961.4(SYNE1):c.14758A>T (p.Ile4920Phe)
NM_182961.4(SYNE1):c.148G>A (p.Val50Met) rs1023433513
NM_182961.4(SYNE1):c.14945G>A (p.Arg4982His) rs754495941
NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr) rs762212036
NM_182961.4(SYNE1):c.14955G>C (p.Gln4985His) rs890021376
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser) rs201306174
NM_182961.4(SYNE1):c.1502T>C (p.Met501Thr) rs202149617
NM_182961.4(SYNE1):c.15089A>G (p.Glu5030Gly) rs1563087715
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018
NM_182961.4(SYNE1):c.15364A>G (p.Lys5122Glu)
NM_182961.4(SYNE1):c.15535G>T (p.Ala5179Ser)
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys) rs757086609
NM_182961.4(SYNE1):c.15661A>G (p.Lys5221Glu) rs764500952
NM_182961.4(SYNE1):c.15767C>G (p.Thr5256Arg)
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.15907C>A (p.Arg5303=)
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro) rs537825329
NM_182961.4(SYNE1):c.16021G>A (p.Glu5341Lys) rs765080592
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val) rs140850000
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806
NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val) rs181649865
NM_182961.4(SYNE1):c.16390-6A>G rs886043083
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp) rs377410590
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln) rs150604289
NM_182961.4(SYNE1):c.16593A>T (p.Glu5531Asp) rs769306377
NM_182961.4(SYNE1):c.16619T>C (p.Leu5540Ser) rs1563012099
NM_182961.4(SYNE1):c.16687C>T (p.Arg5563Trp) rs375097544
NM_182961.4(SYNE1):c.16832G>A (p.Arg5611Gln) rs746879340
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) rs141550859
NM_182961.4(SYNE1):c.16897-6C>G
NM_182961.4(SYNE1):c.169A>G (p.Met57Val) rs1031712545
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp) rs780794124
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro) rs373679435
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His) rs199962439
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala) rs780396166
NM_182961.4(SYNE1):c.17326G>A (p.Ala5776Thr)
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val) rs762422242
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln) rs754105532
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val) rs763218931
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys) rs918895767
NM_182961.4(SYNE1):c.17458G>C (p.Glu5820Gln)
NM_182961.4(SYNE1):c.17488G>C (p.Asp5830His)
NM_182961.4(SYNE1):c.17542-5G>A rs776747142
NM_182961.4(SYNE1):c.17582C>A (p.Thr5861Asn)
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu) rs767844376
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu) rs200589166
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala) rs200701182
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.18080A>G (p.Glu6027Gly) rs780920250
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551
NM_182961.4(SYNE1):c.18103G>T (p.Ala6035Ser) rs557248018
NM_182961.4(SYNE1):c.18106G>C (p.Asp6036His) rs147615757
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp) rs200209279
NM_182961.4(SYNE1):c.181G>A (p.Val61Ile) rs151156420
NM_182961.4(SYNE1):c.18208-4A>G rs1246664941
NM_182961.4(SYNE1):c.18208G>A (p.Glu6070Lys) rs886043015
NM_182961.4(SYNE1):c.18570G>A (p.Met6190Ile) rs886044368
NM_182961.4(SYNE1):c.18602A>T (p.Asp6201Val) rs375829264
NM_182961.4(SYNE1):c.1861A>G (p.Thr621Ala) rs146618884
NM_182961.4(SYNE1):c.18620C>T (p.Thr6207Met) rs373188583
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu) rs558425673
NM_182961.4(SYNE1):c.18631G>A (p.Gly6211Ser) rs149624155
NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile) rs138258566
NM_182961.4(SYNE1):c.18655G>C (p.Ala6219Pro) rs538161615
NM_182961.4(SYNE1):c.18680G>T (p.Arg6227Leu) rs778929049
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys) rs139449273
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys) rs201346604
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037
NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp) rs140567583
NM_182961.4(SYNE1):c.19114G>A (p.Ala6372Thr) rs769911507
NM_182961.4(SYNE1):c.19117A>G (p.Lys6373Glu) rs1554285472
NM_182961.4(SYNE1):c.19130T>C (p.Ile6377Thr) rs1588858602
NM_182961.4(SYNE1):c.19136T>C (p.Leu6379Ser)
NM_182961.4(SYNE1):c.1913A>G (p.Gln638Arg) rs1554756030
NM_182961.4(SYNE1):c.19199G>A (p.Arg6400His) rs746141355
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys) rs143554730
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu) rs150700669
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu) rs773315032
NM_182961.4(SYNE1):c.19311A>T (p.Lys6437Asn)
NM_182961.4(SYNE1):c.19345G>T (p.Asp6449Tyr) rs1315831856
NM_182961.4(SYNE1):c.19351C>G (p.Arg6451Gly) rs755740366
NM_182961.4(SYNE1):c.19386G>C (p.Leu6462Phe) rs1453005046
NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln) rs781427258
NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln) rs774558249
NM_182961.4(SYNE1):c.1943G>A (p.Arg648Gln) rs768605521
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met) rs553508431
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser) rs747674900
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.19636C>T (p.Arg6546Cys) rs369420729
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp) rs766241487
NM_182961.4(SYNE1):c.19729C>T (p.Arg6577Trp) rs368534747
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338
NM_182961.4(SYNE1):c.19826T>C (p.Met6609Thr)
NM_182961.4(SYNE1):c.19886A>C (p.Lys6629Thr)
NM_182961.4(SYNE1):c.19893+6T>C rs377413112
NM_182961.4(SYNE1):c.20017G>T (p.Val6673Leu)
NM_182961.4(SYNE1):c.20029G>T (p.Ala6677Ser) rs1376604930
NM_182961.4(SYNE1):c.20111A>T (p.Gln6704Leu) rs1189558235
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met) rs145185413
NM_182961.4(SYNE1):c.20157G>C (p.Glu6719Asp) rs769305344
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala) rs367790193
NM_182961.4(SYNE1):c.20183G>A (p.Arg6728His) rs139384691
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His) rs767684007
NM_182961.4(SYNE1):c.20362C>A (p.His6788Asn)
NM_182961.4(SYNE1):c.20441C>T (p.Ala6814Val) rs1562385964
NM_182961.4(SYNE1):c.20546T>C (p.Val6849Ala) rs886043522
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val) rs773506774
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile) rs769943110
NM_182961.4(SYNE1):c.20712+7A>T rs776363510
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)
NM_182961.4(SYNE1):c.20957G>A (p.Arg6986His) rs772675312
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu) rs141275966
NM_182961.4(SYNE1):c.21039+6C>G rs368575705
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400
NM_182961.4(SYNE1):c.21163G>C (p.Ala7055Pro)
NM_182961.4(SYNE1):c.2116A>T (p.Met706Leu)
NM_182961.4(SYNE1):c.21189C>G (p.Asp7063Glu) rs139062689
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His) rs777618601
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu) rs766914765
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956
NM_182961.4(SYNE1):c.21426A>G (p.Ile7142Met)
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys) rs757688642
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr) rs369355230
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile) rs760451139
NM_182961.4(SYNE1):c.21511G>A (p.Asp7171Asn) rs1488536575
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser) rs778441411
NM_182961.4(SYNE1):c.21602G>A (p.Cys7201Tyr) rs794727041
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met) rs377449974
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys) rs536892317
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met) rs374866393
NM_182961.4(SYNE1):c.2175G>A (p.Thr725=)
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716
NM_182961.4(SYNE1):c.21820A>T (p.Ile7274Phe)
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met) rs770171807
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541
NM_182961.4(SYNE1):c.21989G>T (p.Ser7330Ile) rs1588081530
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr) rs1029115177
NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His) rs944485518
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser) rs145518327
NM_182961.4(SYNE1):c.22118A>T (p.Glu7373Val) rs1588067419
NM_182961.4(SYNE1):c.22153G>A (p.Asp7385Asn) rs886043280
NM_182961.4(SYNE1):c.22171G>A (p.Glu7391Lys) rs751761981
NM_182961.4(SYNE1):c.22245G>T (p.Glu7415Asp) rs767375107
NM_182961.4(SYNE1):c.2224G>A (p.Val742Ile) rs777920461
NM_182961.4(SYNE1):c.22253A>G (p.Tyr7418Cys)
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys) rs371642308
NM_182961.4(SYNE1):c.22346+6G>T rs368678916
NM_182961.4(SYNE1):c.22405A>G (p.Met7469Val) rs751450784
NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly) rs1587952687
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys) rs762050668
NM_182961.4(SYNE1):c.225+5G>C rs1594697066
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys) rs141278167
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His) rs776733924
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val)
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His) rs752057121
NM_182961.4(SYNE1):c.22589+4G>T rs563408259
NM_182961.4(SYNE1):c.22590-3T>C
NM_182961.4(SYNE1):c.226-2dup rs774388631
NM_182961.4(SYNE1):c.22669A>T (p.Ile7557Phe)
NM_182961.4(SYNE1):c.226C>G (p.Pro76Ala)
NM_182961.4(SYNE1):c.22735T>A (p.Leu7579Met)
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179
NM_182961.4(SYNE1):c.22873G>C (p.Val7625Leu) rs749743156
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del) rs1360697609
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628
NM_182961.4(SYNE1):c.22986A>C (p.Glu7662Asp) rs763100950
NM_182961.4(SYNE1):c.2299A>C (p.Thr767Pro) rs1350005154
NM_182961.4(SYNE1):c.23051A>T (p.Asp7684Val) rs139077054
NM_182961.4(SYNE1):c.23052T>G (p.Asp7684Glu)
NM_182961.4(SYNE1):c.2308G>A (p.Ala770Thr)
NM_182961.4(SYNE1):c.23102C>T (p.Pro7701Leu) rs780201995
NM_182961.4(SYNE1):c.23116G>C (p.Glu7706Gln) rs200066979
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961
NM_182961.4(SYNE1):c.23162T>C (p.Val7721Ala) rs374073415
NM_182961.4(SYNE1):c.23196C>G (p.Ser7732Arg) rs1554518143
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys) rs34974663
NM_182961.4(SYNE1):c.23243C>G (p.Ser7748Cys)
NM_182961.4(SYNE1):c.23248C>T (p.Leu7750Phe) rs778500015
NM_182961.4(SYNE1):c.23257C>T (p.Arg7753Cys)
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His) rs779568455
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013
NM_182961.4(SYNE1):c.23335T>G (p.Leu7779Val) rs200800604
NM_182961.4(SYNE1):c.23562G>T (p.Glu7854Asp) rs894257787
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys) rs1593187196
NM_182961.4(SYNE1):c.23618T>C (p.Ile7873Thr)
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met) rs143842011
NM_182961.4(SYNE1):c.23707C>T (p.His7903Tyr) rs886042801
NM_182961.4(SYNE1):c.23716T>G (p.Ser7906Ala)
NM_182961.4(SYNE1):c.23935C>T (p.Arg7979Trp) rs762991088
NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg) rs1586408465
NM_182961.4(SYNE1):c.23990C>T (p.Thr7997Met) rs757366114
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe) rs139600654
NM_182961.4(SYNE1):c.24191G>A (p.Arg8064His) rs1042685641
NM_182961.4(SYNE1):c.24194G>A (p.Arg8065His) rs201956180
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys) rs375917264
NM_182961.4(SYNE1):c.24211C>T (p.Arg8071Cys) rs1380424994
NM_182961.4(SYNE1):c.242G>A (p.Arg81His) rs761189574
NM_182961.4(SYNE1):c.24338T>G (p.Phe8113Cys) rs769930534
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu) rs149940427
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr) rs139643725
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp) rs772761179
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His) rs376102438
NM_182961.4(SYNE1):c.24634C>T (p.Arg8212Cys) rs139885317
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn) rs267600861
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) rs201548223
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001
NM_182961.4(SYNE1):c.24724G>A (p.Asp8242Asn) rs751624606
NM_182961.4(SYNE1):c.24779C>T (p.Ser8260Leu)
NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr) rs886043013
NM_182961.4(SYNE1):c.24832G>A (p.Val8278Met) rs200663180
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu) rs748328529
NM_182961.4(SYNE1):c.24972A>C (p.Leu8324Phe) rs1554420700
NM_182961.4(SYNE1):c.24977-1718G>A rs370143116
NM_182961.4(SYNE1):c.24977-1719A>G rs202030113
NM_182961.4(SYNE1):c.24977-1785A>T rs372305836
NM_182961.4(SYNE1):c.24991C>G (p.Leu8331Val) rs776807564
NM_182961.4(SYNE1):c.25046T>C (p.Ile8349Thr) rs927451522
NM_182961.4(SYNE1):c.25051C>G (p.Gln8351Glu) rs886044213
NM_182961.4(SYNE1):c.25085C>T (p.Thr8362Met) rs147814237
NM_182961.4(SYNE1):c.25086G>A (p.Thr8362=) rs377302991
NM_182961.4(SYNE1):c.25103C>T (p.Thr8368Ile)
NM_182961.4(SYNE1):c.25119+3A>G rs1057521423
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg) rs375476506
NM_182961.4(SYNE1):c.25241C>T (p.Thr8414Met) rs759512753
NM_182961.4(SYNE1):c.2528G>A (p.Arg843His) rs191723029
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn) rs139679692
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His) rs143049227
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His) rs558046278
NM_182961.4(SYNE1):c.25552C>T (p.Arg8518Trp) rs375616724
NM_182961.4(SYNE1):c.25553G>A (p.Arg8518Gln)
NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His) rs759577495
NM_182961.4(SYNE1):c.25637A>G (p.Gln8546Arg) rs529921934
NM_182961.4(SYNE1):c.25705A>G (p.Ile8569Val) rs1260198851
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val) rs200178554
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val) rs746864807
NM_182961.4(SYNE1):c.2593T>A (p.Cys865Ser)
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp) rs200346529
NM_182961.4(SYNE1):c.26001+4A>G rs746958913
NM_182961.4(SYNE1):c.26023G>A (p.Ala8675Thr) rs1554376325
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg) rs201664645
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn) rs767663894
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe) rs751627369
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>T (p.Arg8735Leu) rs2295192
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr) rs1258213221
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) rs144206837
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) rs757466963
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg)
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe)
NM_182961.4(SYNE1):c.2684C>T (p.Thr895Met) rs373633207
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly) rs141214076
NM_182961.4(SYNE1):c.2728A>T (p.Ser910Cys) rs141214076
NM_182961.4(SYNE1):c.274A>G (p.Ile92Val)
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr) rs1007703591
NM_182961.4(SYNE1):c.2761C>T (p.His921Tyr) rs746476950
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn) rs1374710512
NM_182961.4(SYNE1):c.2975A>C (p.Gln992Pro) rs1564137172
NM_182961.4(SYNE1):c.298G>A (p.Glu100Lys)
NM_182961.4(SYNE1):c.3028-4G>A rs1380560355
NM_182961.4(SYNE1):c.3046C>T (p.Pro1016Ser)
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185
NM_182961.4(SYNE1):c.310-468G>A rs143635963
NM_182961.4(SYNE1):c.3109G>A (p.Glu1037Lys) rs545152377
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln) rs199888697
NM_182961.4(SYNE1):c.3256G>A (p.Val1086Met) rs1592962615
NM_182961.4(SYNE1):c.3262C>T (p.Leu1088Phe)
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761
NM_182961.4(SYNE1):c.3388A>T (p.Thr1130Ser) rs1194769025
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala) rs148733093
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu) rs760256766
NM_182961.4(SYNE1):c.3446G>A (p.Gly1149Glu) rs1592939078
NM_182961.4(SYNE1):c.3454G>A (p.Gly1152Ser) rs749547744
NM_182961.4(SYNE1):c.3499G>A (p.Val1167Ile) rs142734877
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val) rs750101869
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489
NM_182961.4(SYNE1):c.3541C>T (p.Leu1181Phe) rs1203451912
NM_182961.4(SYNE1):c.3647C>T (p.Ala1216Val) rs200629713
NM_182961.4(SYNE1):c.3656C>T (p.Thr1219Met)
NM_182961.4(SYNE1):c.3669+4C>G rs376511242
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725
NM_182961.4(SYNE1):c.38A>G (p.Asp13Gly)
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala) rs141164314
NM_182961.4(SYNE1):c.3917T>C (p.Leu1306Pro) rs1417438989
NM_182961.4(SYNE1):c.3933C>A (p.His1311Gln) rs774093065
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.3971T>G (p.Leu1324Arg)
NM_182961.4(SYNE1):c.3982C>T (p.Arg1328Trp) rs1465224604
NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=) rs762887399
NM_182961.4(SYNE1):c.4121G>A (p.Ser1374Asn) rs1554707111
NM_182961.4(SYNE1):c.4125A>T (p.Leu1375Phe) rs544182159
NM_182961.4(SYNE1):c.4156T>C (p.Ser1386Pro) rs1554696981
NM_182961.4(SYNE1):c.41T>A (p.Ile14Asn) rs202235488
NM_182961.4(SYNE1):c.4257G>T (p.Gln1419His) rs142705233
NM_182961.4(SYNE1):c.4274A>T (p.Glu1425Val) rs767783076
NM_182961.4(SYNE1):c.4411G>A (p.Ala1471Thr) rs1350630909
NM_182961.4(SYNE1):c.4439A>G (p.Asp1480Gly) rs1289977041
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu) rs144276162
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val) rs139544072
NM_182961.4(SYNE1):c.4524G>T (p.Gln1508His) rs1378400021
NM_182961.4(SYNE1):c.4528T>C (p.Phe1510Leu) rs1554687302
NM_182961.4(SYNE1):c.454G>A (p.Ala152Thr) rs750659947
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln) rs149606474
NM_182961.4(SYNE1):c.4659G>C (p.Gln1553His) rs144533000
NM_182961.4(SYNE1):c.4668G>C (p.Lys1556Asn) rs774194598
NM_182961.4(SYNE1):c.4676A>T (p.Glu1559Val) rs1554686616
NM_182961.4(SYNE1):c.4729G>C (p.Val1577Leu)
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val) rs138691290
NM_182961.4(SYNE1):c.4756A>G (p.Thr1586Ala)
NM_182961.4(SYNE1):c.4789-3T>C
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_182961.4(SYNE1):c.4943C>T (p.Thr1648Met) rs199797561
NM_182961.4(SYNE1):c.5032G>A (p.Ala1678Thr) rs1554680800
NM_182961.4(SYNE1):c.5056T>C (p.Ser1686Pro) rs1364310674
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp) rs777175001
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424
NM_182961.4(SYNE1):c.5146C>G (p.Leu1716Val) rs202081505
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu) rs141996707
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys) rs540091060
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly) rs201366911
NM_182961.4(SYNE1):c.5390T>C (p.Met1797Thr) rs1481121106
NM_182961.4(SYNE1):c.5413C>T (p.Arg1805Trp)
NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly) rs557081125
NM_182961.4(SYNE1):c.5461C>G (p.Gln1821Glu)
NM_182961.4(SYNE1):c.5489T>G (p.Leu1830Trp)
NM_182961.4(SYNE1):c.5491G>T (p.Gly1831Cys) rs184779168
NM_182961.4(SYNE1):c.5675A>G (p.Glu1892Gly) rs757761843
NM_182961.4(SYNE1):c.5686A>C (p.Ser1896Arg)
NM_182961.4(SYNE1):c.5780A>G (p.Asp1927Gly) rs144732736
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp) rs555846215
NM_182961.4(SYNE1):c.582-6A>G rs199728167
NM_182961.4(SYNE1):c.5828A>G (p.Glu1943Gly) rs963256304
NM_182961.4(SYNE1):c.592A>G (p.Ile198Val) rs746384499
NM_182961.4(SYNE1):c.6032G>C (p.Arg2011Pro) rs1199419170
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro) rs376518010
NM_182961.4(SYNE1):c.6185G>T (p.Arg2062Leu) rs542032376
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr) rs577979265
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly) rs368938119
NM_182961.4(SYNE1):c.6332C>T (p.Thr2111Ile) rs760835706
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu) rs765343767
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile) rs377531174
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu) rs555536675
NM_182961.4(SYNE1):c.68A>G (p.Asp23Gly) rs370851746
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604
NM_182961.4(SYNE1):c.6982A>G (p.Met2328Val) rs1250755900
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile) rs372524102
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430
NM_182961.4(SYNE1):c.7091A>G (p.Asn2364Ser)
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070
NM_182961.4(SYNE1):c.7303C>G (p.Arg2435Gly)
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser) rs140948068
NM_182961.4(SYNE1):c.7402C>G (p.Gln2468Glu) rs1384323646
NM_182961.4(SYNE1):c.7475C>A (p.Ala2492Asp) rs773876679
NM_182961.4(SYNE1):c.7478A>G (p.Asn2493Ser)
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu) rs201127061
NM_182961.4(SYNE1):c.7603G>A (p.Glu2535Lys) rs764800126
NM_182961.4(SYNE1):c.7644G>C (p.Gln2548His)
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val) rs528549317
NM_182961.4(SYNE1):c.781G>A (p.Val261Ile) rs144069436
NM_182961.4(SYNE1):c.7933G>A (p.Asp2645Asn) rs775185806
NM_182961.4(SYNE1):c.7951G>A (p.Glu2651Lys) rs147040672
NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu) rs370644295
NM_182961.4(SYNE1):c.7989G>T (p.Arg2663=) rs1268841274
NM_182961.4(SYNE1):c.8014C>G (p.Leu2672Val) rs1563634104
NM_182961.4(SYNE1):c.8069A>C (p.Gln2690Pro) rs1591716331
NM_182961.4(SYNE1):c.8210A>G (p.Asp2737Gly) rs886044469
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile) rs374862218
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His) rs139175290
NM_182961.4(SYNE1):c.83T>G (p.Val28Gly) rs1554878579
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala) rs375079396
NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr) rs371025400
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr) rs770907182
NM_182961.4(SYNE1):c.8705C>T (p.Ser2902Leu) rs576979843
NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys) rs140568392
NM_182961.4(SYNE1):c.8762C>T (p.Thr2921Met) rs371229610
NM_182961.4(SYNE1):c.8779C>G (p.Arg2927Gly) rs372633466
NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His) rs148998248
NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn) rs143313866
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560
NM_182961.4(SYNE1):c.8888C>A (p.Ala2963Asp) rs570962334
NM_182961.4(SYNE1):c.9009+5G>T rs1252397404
NM_182961.4(SYNE1):c.9040C>T (p.Pro3014Ser) rs200939886
NM_182961.4(SYNE1):c.9052G>T (p.Asp3018Tyr) rs910446340
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly) rs144643941
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr) rs398123005
NM_182961.4(SYNE1):c.9280C>A (p.Pro3094Thr) rs1591443794
NM_182961.4(SYNE1):c.9374T>C (p.Leu3125Pro) rs1563477104
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly) rs138481762
NM_182961.4(SYNE1):c.9394A>T (p.Ser3132Cys) rs138481762
NM_182961.4(SYNE1):c.941G>T (p.Arg314Ile) rs1554795128
NM_182961.4(SYNE1):c.952G>A (p.Val318Ile)
NM_182961.4(SYNE1):c.9572A>T (p.Lys3191Ile) rs1563437567
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys) rs761121679
NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr) rs1398398021
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His) rs146769373
NM_182961.4(SYNE1):c.9719T>C (p.Leu3240Pro) rs56308121
NM_182961.4(SYNE1):c.9733G>T (p.Ala3245Ser) rs753548717
NM_182961.4(SYNE1):c.9788C>T (p.Ala3263Val) rs780460827
NM_182961.4(SYNE1):c.9807+6G>A rs376694958
NM_182961.4(SYNE1):c.9832A>G (p.Ile3278Val)
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn) rs147281213

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.