ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 601
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HGVS dbSNP
NC_000006.11:g.(?_152443551)_(152534914_?)dup
NC_000006.11:g.(?_152443551)_(153748051_?)del
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713
NM_182961.4(SYNE1):c.10060G>C (p.Glu3354Gln) rs773410652
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys)
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val) rs748579024
NM_182961.4(SYNE1):c.10181A>T (p.Tyr3394Phe)
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839
NM_182961.4(SYNE1):c.1034A>C (p.Gln345Pro)
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769
NM_182961.4(SYNE1):c.1047+4T>G
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382
NM_182961.4(SYNE1):c.10557A>T (p.Ser3519=) rs73784326
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser) rs776816480
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138
NM_182961.4(SYNE1):c.10608+1G>C
NM_182961.4(SYNE1):c.10709G>A (p.Arg3570Gln)
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser) rs148212715
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=) rs114858512
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr) rs148028681
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=) rs374376301
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His)
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg)
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036
NM_182961.4(SYNE1):c.11413C>T (p.Arg3805Trp)
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met) rs375577011
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671
NM_182961.4(SYNE1):c.11486C>T (p.Thr3829Ile)
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127
NM_182961.4(SYNE1):c.11656C>A (p.Leu3886Met)
NM_182961.4(SYNE1):c.11668G>A (p.Val3890Ile)
NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp)
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534
NM_182961.4(SYNE1):c.11970G>A (p.Leu3990=) rs960254266
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu)
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518
NM_182961.4(SYNE1):c.12035G>A (p.Gly4012Asp)
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472
NM_182961.4(SYNE1):c.12122G>A (p.Arg4041Gln) rs771461121
NM_182961.4(SYNE1):c.12127G>A (p.Asp4043Asn)
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494
NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs) rs1564367104
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)
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val) rs886044158
NM_182961.4(SYNE1):c.12291T>G (p.Cys4097Trp) rs1554492224
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178
NM_182961.4(SYNE1):c.12351+4A>C rs375086691
NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser) rs386707192
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys) rs139139296
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met) rs148204741
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) rs886042380
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu) rs140359400
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys)
NM_182961.4(SYNE1):c.12734G>A (p.Cys4245Tyr)
NM_182961.4(SYNE1):c.12795A>G (p.Arg4265=) rs1554474578
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr)
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu)
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) rs755709525
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.13221C>T (p.Asp4407=) rs10499268
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp) rs75153800
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)
NM_182961.4(SYNE1):c.13532C>T (p.Thr4511Ile) rs1554471456
NM_182961.4(SYNE1):c.13628A>T (p.Tyr4543Phe) rs138770612
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr)
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.13832A>C (p.Gln4611Pro)
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.13863G>A (p.Thr4621=) rs112266645
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu)
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.13949G>A (p.Arg4650Gln)
NM_182961.4(SYNE1):c.13952A>G (p.Gln4651Arg) rs374697325
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=) rs17082484
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545
NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=) rs377739292
NM_182961.4(SYNE1):c.14116G>A (p.Val4706Ile)
NM_182961.4(SYNE1):c.14152G>A (p.Ala4718Thr)
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366
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)
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.14577G>C (p.Gln4859His) rs369433602
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=) rs140118684
NM_182961.4(SYNE1):c.14671A>G (p.Thr4891Ala)
NM_182961.4(SYNE1):c.14695T>C (p.Trp4899Arg)
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.148G>A (p.Val50Met)
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679
NM_182961.4(SYNE1):c.14945G>A (p.Arg4982His) rs754495941
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.15313G>A (p.Asp5105Asn) rs35493783
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018
NM_182961.4(SYNE1):c.15399G>A (p.Ser5133=) rs761249756
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys) rs187403476
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys)
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987
NM_182961.4(SYNE1):c.15661A>G (p.Lys5221Glu) rs764500952
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro) rs537825329
NM_182961.4(SYNE1):c.16021G>A (p.Glu5341Lys) rs765080592
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) rs35987150
NM_182961.4(SYNE1):c.16237-3del rs752661566
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043
NM_182961.4(SYNE1):c.1632+6T>C rs758756977
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys) rs138745849
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)
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) rs141550859
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)
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His) rs199962439
NM_182961.4(SYNE1):c.17118A>G (p.Leu5706=) rs1194006323
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala) rs780396166
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=) rs200002217
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val)
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln) rs754105532
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val) rs763218931
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys)
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) rs148731167
NM_182961.4(SYNE1):c.17542-5G>A rs776747142
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu) rs767844376
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu) rs200589166
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala) rs200701182
NM_182961.4(SYNE1):c.17990A>G (p.Glu5997Gly) rs1554363340
NM_182961.4(SYNE1):c.18004G>A (p.Glu6002Lys)
NM_182961.4(SYNE1):c.18072C>T (p.Leu6024=) rs749375364
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)
NM_182961.4(SYNE1):c.18106G>C (p.Asp6036His) rs147615757
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=) rs149923357
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539
NM_182961.4(SYNE1):c.18208-4A>G
NM_182961.4(SYNE1):c.18208G>A (p.Glu6070Lys) rs886043015
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976
NM_182961.4(SYNE1):c.18570G>A (p.Met6190Ile) rs886044368
NM_182961.4(SYNE1):c.18602A>T (p.Asp6201Val)
NM_182961.4(SYNE1):c.1861A>G (p.Thr621Ala) rs146618884
NM_182961.4(SYNE1):c.18620C>T (p.Thr6207Met)
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.18655G>C (p.Ala6219Pro)
NM_182961.4(SYNE1):c.18680G>T (p.Arg6227Leu) rs778929049
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) rs910956017
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys) rs139449273
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys) rs201346604
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745
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)
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768
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)
NM_182961.4(SYNE1):c.1913A>G (p.Gln638Arg) rs1554756030
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.19260+2T>C
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu)
NM_182961.4(SYNE1):c.19345G>T (p.Asp6449Tyr) rs1315831856
NM_182961.4(SYNE1):c.19351C>G (p.Arg6451Gly)
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)
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met)
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser) rs747674900
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.19636C>T (p.Arg6546Cys)
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp) rs766241487
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509
NM_182961.4(SYNE1):c.19689C>A (p.Leu6563=) rs372285648
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile) rs35654757
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.1983C>T (p.Asn661=) rs149670417
NM_182961.4(SYNE1):c.19893+6T>C rs377413112
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) rs35079654
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln) rs190673256
NM_182961.4(SYNE1):c.20029G>T (p.Ala6677Ser)
NM_182961.4(SYNE1):c.20070G>A (p.Thr6690=) rs141263831
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.20163C>T (p.Asn6721=) rs201221147
NM_182961.4(SYNE1):c.20183G>A (p.Arg6728His) rs139384691
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His) rs767684007
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.20553C>T (p.Ala6851=) rs969664934
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) rs138628147
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile)
NM_182961.4(SYNE1):c.20712+7A>T
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=) rs766515787
NM_182961.4(SYNE1):c.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.21189C>G (p.Asp7063Glu) rs139062689
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His) rs777618601
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=) rs75469773
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu)
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys)
NM_182961.4(SYNE1):c.21474G>A (p.Leu7158=) rs370065996
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr)
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile) rs760451139
NM_182961.4(SYNE1):c.21511G>A (p.Asp7171Asn)
NM_182961.4(SYNE1):c.21523-8T>G rs187773880
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.2174C>T (p.Thr725Met)
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met) rs770171807
NM_182961.4(SYNE1):c.21862-4C>T rs772311271
NM_182961.4(SYNE1):c.21879G>A (p.Leu7293=) rs749164483
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541
NM_182961.4(SYNE1):c.21989G>T (p.Ser7330Ile)
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr)
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317
NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His)
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser) rs145518327
NM_182961.4(SYNE1):c.22118A>T (p.Glu7373Val)
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501
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.2220G>A (p.Met740Ile) rs146001055
NM_182961.4(SYNE1):c.2224G>A (p.Val742Ile)
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=) rs139362680
NM_182961.4(SYNE1):c.22346+6G>T rs368678916
NM_182961.4(SYNE1):c.22347-9T>A rs535951024
NM_182961.4(SYNE1):c.22405A>G (p.Met7469Val)
NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly)
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys)
NM_182961.4(SYNE1):c.22495-17dup rs767966157
NM_182961.4(SYNE1):c.225+5G>C
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys)
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His)
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.22589+4G>T rs563408259
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198
NM_182961.4(SYNE1):c.22873G>C (p.Val7625Leu) rs749743156
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del) rs1360697609
NM_182961.4(SYNE1):c.22902G>A (p.Ser7634=) rs140577642
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)
NM_182961.4(SYNE1):c.23051A>T (p.Asp7684Val) rs139077054
NM_182961.4(SYNE1):c.23102C>T (p.Pro7701Leu)
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961
NM_182961.4(SYNE1):c.23162T>C (p.Val7721Ala)
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.23248C>T (p.Leu7750Phe)
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His)
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771
NM_182961.4(SYNE1):c.23406A>G (p.Lys7802=) rs780485635
NM_182961.4(SYNE1):c.23461-6A>C rs145098375
NM_182961.4(SYNE1):c.23562G>T (p.Glu7854Asp) rs894257787
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys)
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.23743G>A (p.Asp7915Asn) rs76699382
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=) rs767628258
NM_182961.4(SYNE1):c.23935C>T (p.Arg7979Trp) rs762991088
NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg)
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962
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)
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys) rs375917264
NM_182961.4(SYNE1):c.24211C>T (p.Arg8071Cys)
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=) rs910415
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.24349C>T (p.Arg8117Trp) rs144056525
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu) rs149940427
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251
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.24555C>T (p.Ile8185=) rs201799566
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.24633C>T (p.Ile8211=) rs201078523
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)
NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr) rs886043013
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368
NM_182961.4(SYNE1):c.24832G>A (p.Val8278Met)
NM_182961.4(SYNE1):c.24861C>T (p.His8287=) rs202207154
NM_182961.4(SYNE1):c.2487C>T (p.Asp829=) rs753367709
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu)
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
NM_182961.4(SYNE1):c.24977-1785A>T rs372305836
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727
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.25085C>T (p.Thr8362Met) rs147814237
NM_182961.4(SYNE1):c.25086G>A (p.Thr8362=) rs377302991
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170
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.2527C>T (p.Arg843Cys) rs34610829
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.25568G>A (p.Arg8523His) rs759577495
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=) rs201344762
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.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp) rs200346529
NM_182961.4(SYNE1):c.26001+4A>G rs746958913
NM_182961.4(SYNE1):c.26002-4A>G rs77220999
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)
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe)
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu) rs1554349162
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu)
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr) rs1258213221
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) rs757466963
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=) rs370645510
NM_182961.4(SYNE1):c.2684C>T (p.Thr895Met) rs373633207
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012
NM_182961.4(SYNE1):c.2728A>T (p.Ser910Cys) rs141214076
NM_182961.4(SYNE1):c.2761C>T (p.His921Tyr)
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn)
NM_182961.4(SYNE1):c.2975A>C (p.Gln992Pro) rs1564137172
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599
NM_182961.4(SYNE1):c.3028-4G>A rs1380560355
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.3120T>A (p.Thr1040=) rs147176678
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln) rs199888697
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.3256G>A (p.Val1086Met)
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)
NM_182961.4(SYNE1):c.3454G>A (p.Gly1152Ser) rs749547744
NM_182961.4(SYNE1):c.3499G>A (p.Val1167Ile)
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)
NM_182961.4(SYNE1):c.3669+10T>C rs187598275
NM_182961.4(SYNE1):c.3669+4C>G rs376511242
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260
NM_182961.4(SYNE1):c.3917T>C (p.Leu1306Pro)
NM_182961.4(SYNE1):c.3933C>A (p.His1311Gln) rs774093065
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766
NM_182961.4(SYNE1):c.3982C>T (p.Arg1328Trp) rs1465224604
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713
NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=) rs762887399
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801
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.4149+9T>C rs1554706986
NM_182961.4(SYNE1):c.4156T>C (p.Ser1386Pro) rs1554696981
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822
NM_182961.4(SYNE1):c.41T>A (p.Ile14Asn)
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)
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.4513G>T (p.Glu1505Ter)
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)
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln)
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705
NM_182961.4(SYNE1):c.4659G>C (p.Gln1553His)
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.4732C>T (p.Pro1578Ser) rs199769508
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val)
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_182961.4(SYNE1):c.4824G>A (p.Ala1608=) rs369587906
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=) rs886042121
NM_182961.4(SYNE1):c.4975_4976+8del
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988
NM_182961.4(SYNE1):c.5032G>A (p.Ala1678Thr) rs1554680800
NM_182961.4(SYNE1):c.5056T>C (p.Ser1686Pro)
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp) rs777175001
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) rs150702500
NM_182961.4(SYNE1):c.5146C>G (p.Leu1716Val)
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu) rs141996707
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys)
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669
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.5421+9G>T rs376218204
NM_182961.4(SYNE1):c.5421+9del rs774622835
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val) rs76393834
NM_182961.4(SYNE1):c.5491G>T (p.Gly1831Cys)
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)
NM_182961.4(SYNE1):c.5675A>G (p.Glu1892Gly) rs757761843
NM_182961.4(SYNE1):c.5780A>G (p.Asp1927Gly) rs144732736
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp)
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)
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=) rs533039765
NM_182961.4(SYNE1):c.6032G>C (p.Arg2011Pro) rs1199419170
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro)
NM_182961.4(SYNE1):c.6185G>T (p.Arg2062Leu) rs542032376
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly)
NM_182961.4(SYNE1):c.6332C>T (p.Thr2111Ile) rs760835706
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu)
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.6889G>A (p.Gly2297Arg) rs117184249
NM_182961.4(SYNE1):c.6894C>A (p.Thr2298=) rs1554629711
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val) rs116721144
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546
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.7156A>G (p.Ile2386Val) rs147947903
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser)
NM_182961.4(SYNE1):c.7402C>G (p.Gln2468Glu)
NM_182961.4(SYNE1):c.7475C>A (p.Ala2492Asp) rs773876679
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu) rs201127061
NM_182961.4(SYNE1):c.7603G>A (p.Glu2535Lys)
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375
NM_182961.4(SYNE1):c.7713-4T>C rs571742202
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val)
NM_182961.4(SYNE1):c.7797C>G (p.Ser2599=) rs748909185
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)
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635
NM_182961.4(SYNE1):c.7977C>A (p.Thr2659=) rs1032522783
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.8015T>C (p.Leu2672Pro) rs147870520
NM_182961.4(SYNE1):c.8069A>C (p.Gln2690Pro)
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241
NM_182961.4(SYNE1):c.8177+9C>T rs56877632
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile) rs374862218
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206
NM_182961.4(SYNE1):c.83T>G (p.Val28Gly) rs1554878579
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836
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)
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.8973G>A (p.Thr2991=) rs146424389
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)
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly) rs144643941
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr) rs398123005
NM_182961.4(SYNE1):c.9280C>A (p.Pro3094Thr)
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg) rs566953005
NM_182961.4(SYNE1):c.9374T>C (p.Leu3125Pro) rs1563477104
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.9489A>G (p.Gln3163=) rs35379711
NM_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn) rs140508714
NM_182961.4(SYNE1):c.9572A>T (p.Lys3191Ile) rs1563437567
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys)
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.9733G>T (p.Ala3245Ser) rs753548717
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu) rs114954026
NM_182961.4(SYNE1):c.9788C>T (p.Ala3263Val) rs780460827
NM_182961.4(SYNE1):c.9807+6G>A rs376694958
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) rs150912982
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn) rs147281213
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=) rs747731841

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