ClinVar Miner

List of variants in gene SYNE1 studied for Spinocerebellar ataxia, autosomal recessive 8

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Gene type:
ClinVar version:
Total variants: 578
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HGVS dbSNP
NM_033071.3(SYNE1):c.20050C>T rs780451185
NM_033071.3(SYNE1):c.21832-2dup rs35128811
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
NM_182961.4(SYNE1):c.-223-10T>C rs564226533
NM_182961.4(SYNE1):c.-305G>T
NM_182961.4(SYNE1):c.-347C>A rs570030870
NM_182961.4(SYNE1):c.-352C>T rs886061220
NM_182961.4(SYNE1):c.-361G>T rs886061221
NM_182961.4(SYNE1):c.-391-9T>C rs138926036
NM_182961.4(SYNE1):c.-40A>T
NM_182961.4(SYNE1):c.-49C>T rs373654060
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713
NM_182961.4(SYNE1):c.10105A>G (p.Met3369Val) rs199668467
NM_182961.4(SYNE1):c.10145+12T>C rs112401775
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala) rs546645393
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter) rs1203553546
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=) rs145287138
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839
NM_182961.4(SYNE1):c.10289G>A (p.Gly3430Glu)
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898
NM_182961.4(SYNE1):c.10420A>G (p.Arg3474Gly)
NM_182961.4(SYNE1):c.1047+4T>A rs9397106
NM_182961.4(SYNE1):c.10471G>A (p.Val3491Ile) rs886043016
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.10596G>A (p.Leu3532=)
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln) rs1060499769
NM_182961.4(SYNE1):c.10768C>T (p.Arg3590Ter) rs606231292
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=) rs377049622
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102
NM_182961.4(SYNE1):c.1094T>C (p.Ile365Thr)
NM_182961.4(SYNE1):c.10981A>C (p.Arg3661=) rs767172575
NM_182961.4(SYNE1):c.10981A>G (p.Arg3661Gly) rs767172575
NM_182961.4(SYNE1):c.1099C>T (p.His367Tyr)
NM_182961.4(SYNE1):c.11083-4A>G rs764920428
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=) rs374376301
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119
NM_182961.4(SYNE1):c.1119C>T (p.His373=) rs886061217
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972
NM_182961.4(SYNE1):c.11253+9G>A rs368012172
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln) rs774322624
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=)
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786
NM_182961.4(SYNE1):c.11580+15C>T rs6908392
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127
NM_182961.4(SYNE1):c.11625A>G (p.Ser3875=) rs1057518265
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534
NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu)
NM_182961.4(SYNE1):c.11734-5T>G rs9478320
NM_182961.4(SYNE1):c.1176G>A (p.Val392=) rs776130961
NM_182961.4(SYNE1):c.11909_11910del (p.Met3970fs) rs606231135
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu) rs756840607
NM_182961.4(SYNE1):c.12056C>T (p.Ala4019Val) rs756840607
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472
NM_182961.4(SYNE1):c.12079-12G>T rs73783853
NM_182961.4(SYNE1):c.12090T>A (p.Ser4030Arg)
NM_182961.4(SYNE1):c.12099C>T (p.His4033=) rs375862387
NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly)
NM_182961.4(SYNE1):c.12136C>A (p.Gln4046Lys)
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly) rs377526133
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434
NM_182961.4(SYNE1):c.12225+4G>A rs770448083
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter) rs1590463470
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926
NM_182961.4(SYNE1):c.12354T>G (p.Ile4118Met)
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys) rs148935596
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met) rs148204741
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=) rs143851739
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=) rs138650597
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val) rs150409035
NM_182961.4(SYNE1):c.12666C>G (p.Cys4222Trp)
NM_182961.4(SYNE1):c.12795-12A>G rs9478314
NM_182961.4(SYNE1):c.1291G>T (p.Val431Phe) rs761198236
NM_182961.4(SYNE1):c.1305C>T (p.His435=) rs539575253
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr) rs368709678
NM_182961.4(SYNE1):c.13223C>G (p.Ala4408Gly) rs886061204
NM_182961.4(SYNE1):c.13299del (p.His4433fs) rs1563130387
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys) rs554814659
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093
NM_182961.4(SYNE1):c.1369del (p.Asp457fs) rs1554768245
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238
NM_182961.4(SYNE1):c.1376A>C (p.His459Pro) rs1593394821
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=) rs184264920
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile) rs147125369
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His) rs199673397
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=) rs17082484
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785
NM_182961.4(SYNE1):c.14033C>T (p.Ser4678Phe)
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=) rs138307449
NM_182961.4(SYNE1):c.14416G>A (p.Glu4806Lys)
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys) rs1554768095
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr) rs747838657
NM_182961.4(SYNE1):c.1463+9A>G rs368846118
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His) rs150266354
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=) rs370314344
NM_182961.4(SYNE1):c.15254T>C (p.Met5085Thr)
NM_182961.4(SYNE1):c.15301G>A (p.Ala5101Thr)
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=)
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala) rs773536890
NM_182961.4(SYNE1):c.15408T>C (p.His5136=) rs776024178
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys) rs187403476
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=) rs774649954
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987
NM_182961.4(SYNE1):c.15615C>T (p.Ile5205=) rs762262465
NM_182961.4(SYNE1):c.15657+5T>A rs199779021
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile)
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868
NM_182961.4(SYNE1):c.15917+9G>A
NM_182961.4(SYNE1):c.15918-12A>G rs606231134
NM_182961.4(SYNE1):c.15952G>A (p.Val5318Met) rs886061203
NM_182961.4(SYNE1):c.15974G>A (p.Arg5325Gln) rs1233067296
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met) rs202105931
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) rs35987150
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789
NM_182961.4(SYNE1):c.16237-10A>T rs201078255
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.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter) rs797046024
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys) rs138745849
NM_182961.4(SYNE1):c.1653G>C (p.Lys551Asn) rs886061216
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604
NM_182961.4(SYNE1):c.16923G>A (p.Leu5641=) rs869025528
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp) rs780794124
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=) rs573806608
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp) rs202171698
NM_182961.4(SYNE1):c.17246A>C (p.His5749Pro)
NM_182961.4(SYNE1):c.1729+14C>T rs76417048
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752
NM_182961.4(SYNE1):c.17346+7G>A rs9383985
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro)
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) rs148731167
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro) rs752135269
NM_182961.4(SYNE1):c.17542-14A>G rs111686341
NM_182961.4(SYNE1):c.17542-7G>A rs199762799
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713
NM_182961.4(SYNE1):c.17683-11T>C rs759219567
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753
NM_182961.4(SYNE1):c.17774A>G (p.Tyr5925Cys)
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=)
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933
NM_182961.4(SYNE1):c.17867G>A (p.Arg5956His) rs80265744
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala) rs200701182
NM_182961.4(SYNE1):c.18012+1G>T rs1562842409
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser) rs774683772
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=) rs146238726
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp) rs200209279
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=)
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp)
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976
NM_182961.4(SYNE1):c.18551A>G (p.His6184Arg)
NM_182961.4(SYNE1):c.18569T>A (p.Met6190Lys)
NM_182961.4(SYNE1):c.18574-13T>C rs148664724
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=) rs552884641
NM_182961.4(SYNE1):c.18628C>T (p.Pro6210Ser)
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile) rs150335599
NM_182961.4(SYNE1):c.18664A>G (p.Thr6222Ala) rs886061202
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp) rs201873107
NM_182961.4(SYNE1):c.18725C>A (p.Ala6242Asp)
NM_182961.4(SYNE1):c.18727G>C (p.Glu6243Gln)
NM_182961.4(SYNE1):c.18776T>C (p.Leu6259Pro) rs886061201
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.18806G>T (p.Gly6269Val)
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087
NM_182961.4(SYNE1):c.18871G>A (p.Ala6291Thr) rs143594709
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=) rs762720357
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.1932+9G>T
NM_182961.4(SYNE1):c.1933-2A>G rs1554753528
NM_182961.4(SYNE1):c.19481A>C (p.Lys6494Thr) rs763051329
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.19555G>A (p.Val6519Ile)
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509
NM_182961.4(SYNE1):c.19656C>T (p.Val6552=) rs773211579
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_182961.4(SYNE1):c.19693-15G>A rs187885923
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile) rs35654757
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu) rs376891338
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala) rs367790193
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala) rs753654674
NM_182961.4(SYNE1):c.20530-14G>A rs2296254
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272
NM_182961.4(SYNE1):c.20733T>C (p.Pro6911=)
NM_182961.4(SYNE1):c.20741A>C (p.His6914Pro) rs773155844
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=) rs766515787
NM_182961.4(SYNE1):c.20937T>C (p.Ser6979=)
NM_182961.4(SYNE1):c.20970del (p.Asp6991fs) rs1554247806
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu) rs141275966
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter) rs763325410
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400
NM_182961.4(SYNE1):c.21153T>C (p.Ile7051=) rs886061200
NM_182961.4(SYNE1):c.21195+12A>G rs200930593
NM_182961.4(SYNE1):c.21294C>G (p.Ser7098Arg)
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser) rs777227521
NM_182961.4(SYNE1):c.21351+14C>T
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr) rs140962690
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338
NM_182961.4(SYNE1):c.21501A>G (p.Gln7167=)
NM_182961.4(SYNE1):c.21514A>G (p.Asn7172Asp) rs886061199
NM_182961.4(SYNE1):c.21522G>C (p.Gln7174His) rs886061198
NM_182961.4(SYNE1):c.21523-8T>G rs187773880
NM_182961.4(SYNE1):c.21656+13T>C rs9383976
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) rs202121741
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter) rs1554226673
NM_182961.4(SYNE1):c.21741C>A (p.Tyr7247Ter) rs1269308421
NM_182961.4(SYNE1):c.21758C>T (p.Ser7253Leu)
NM_182961.4(SYNE1):c.21759G>A (p.Ser7253=)
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226
NM_182961.4(SYNE1):c.21783A>C (p.Arg7261=) rs886061197
NM_182961.4(SYNE1):c.21798G>C (p.Leu7266Phe) rs760237153
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp) rs146907132
NM_182961.4(SYNE1):c.2201C>G (p.Pro734Arg) rs886061215
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317
NM_182961.4(SYNE1):c.22044+9C>T rs774609945
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile) rs146001055
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His) rs200135486
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=) rs139362680
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys) rs371642308
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=) rs745722568
NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter) rs119103245
NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter) rs1554573328
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.2247G>A (p.Leu749=) rs201537074
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe) rs886061196
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val)
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr) rs201497427
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp) rs202017153
NM_182961.4(SYNE1):c.2297T>C (p.Ile766Thr) rs886061214
NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs) rs1554553667
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796
NM_182961.4(SYNE1):c.23046A>G (p.Ile7682Met) rs772452257
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter) rs119103244
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961
NM_182961.4(SYNE1):c.23141G>A (p.Cys7714Tyr) rs886061195
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.23335T>C (p.Leu7779=) rs200800604
NM_182961.4(SYNE1):c.23461-6A>C rs145098375
NM_182961.4(SYNE1):c.23666A>G (p.Gln7889Arg)
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile)
NM_182961.4(SYNE1):c.23738T>C (p.Val7913Ala) rs746086003
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=) rs377113267
NM_182961.4(SYNE1):c.23791-13C>T rs371245873
NM_182961.4(SYNE1):c.23832A>G (p.Ala7944=) rs886061194
NM_182961.4(SYNE1):c.2386C>G (p.Leu796Val)
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=) rs767628258
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962
NM_182961.4(SYNE1):c.23978+11A>T rs754355745
NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=) rs572195368
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln) rs267600862
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe) rs139600654
NM_182961.4(SYNE1):c.24097A>G (p.Thr8033Ala)
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=)
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=) rs185088779
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys)
NM_182961.4(SYNE1):c.24252A>G (p.Glu8084=) rs886061193
NM_182961.4(SYNE1):c.24344C>G (p.Thr8115Ser) rs886061192
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525
NM_182961.4(SYNE1):c.24350G>A (p.Arg8117Gln) rs777435137
NM_182961.4(SYNE1):c.24379A>T (p.Met8127Leu)
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn) rs267600861
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) rs201548223
NM_182961.4(SYNE1):c.24783C>T (p.Leu8261=)
NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln)
NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu) rs148367376
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln) rs201029723
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368
NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln)
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755
NM_182961.4(SYNE1):c.24977-1719A>G rs202030113
NM_182961.4(SYNE1):c.24977-1774A>G rs2747662
NM_182961.4(SYNE1):c.24977-1786A>G rs377088951
NM_182961.4(SYNE1):c.24977-5C>T rs767722883
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter) rs797046025
NM_182961.4(SYNE1):c.25037G>A (p.Arg8346His)
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=) rs200678102
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885
NM_182961.4(SYNE1):c.25120-6A>G rs201898019
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=) rs576598951
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170
NM_182961.4(SYNE1):c.25157C>A (p.Ser8386Tyr)
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=)
NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=) rs758276004
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248
NM_182961.4(SYNE1):c.25443G>C (p.Gln8481His) rs886061191
NM_182961.4(SYNE1):c.25508A>G (p.Asn8503Ser)
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=) rs776288515
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp) rs764235096
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=) rs201344762
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=) rs747858299
NM_182961.4(SYNE1):c.2569-8C>T rs376033376
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu) rs1562922141
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.26002-4A>G rs77220999
NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=) rs746159592
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg) rs369192821
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638
NM_182961.4(SYNE1):c.2893-5G>A rs370196519
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter) rs1564136499
NM_182961.4(SYNE1):c.3055T>C (p.Leu1019=)
NM_182961.4(SYNE1):c.309+14A>G rs368595280
NM_182961.4(SYNE1):c.310-468G>A rs143635963
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701
NM_182961.4(SYNE1):c.336C>T (p.Thr112=) rs149008539
NM_182961.4(SYNE1):c.3382G>C (p.Asp1128His) rs886061213
NM_182961.4(SYNE1):c.3396-10_3396delinsC rs863224929
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala) rs148733093
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer) rs1554721227
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala) rs555800735
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489
NM_182961.4(SYNE1):c.3587C>T (p.Ser1196Phe) rs886061212
NM_182961.4(SYNE1):c.3670-4A>G rs377058395
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly) rs1564070652
NM_182961.4(SYNE1):c.3691T>C (p.Phe1231Leu) rs146403390
NM_182961.4(SYNE1):c.3723C>G (p.Val1241=)
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260
NM_182961.4(SYNE1):c.3930_3931dup (p.His1311fs) rs1592773965
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242
NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp) rs200763530
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln) rs201144728
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766
NM_182961.4(SYNE1):c.4008+15T>C rs368542446
NM_182961.4(SYNE1):c.402+11A>G rs80276170
NM_182961.4(SYNE1):c.403-10T>G rs886061219
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822
NM_182961.4(SYNE1):c.4189G>C (p.Glu1397Gln)
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile) rs1245972676
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=) rs146567226
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379
NM_182961.4(SYNE1):c.4461+15C>T
NM_182961.4(SYNE1):c.4461+6C>T
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=) rs776593228
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.4625G>A (p.Cys1542Tyr)
NM_182961.4(SYNE1):c.4637C>A (p.Thr1546Lys)
NM_182961.4(SYNE1):c.4650T>G (p.His1550Gln)
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624
NM_182961.4(SYNE1):c.4789-13G>A rs142900784
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe) rs151002514
NM_182961.4(SYNE1):c.480_481CT[1] (p.Ser160_Ser161insTer) rs1554829141
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_182961.4(SYNE1):c.4844G>C (p.Ser1615Thr)
NM_182961.4(SYNE1):c.487A>T (p.Thr163Ser) rs886061218
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter) rs771955377
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=) rs771955377
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile) rs755866233
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter) rs1563941569
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.5161G>T (p.Glu1721Ter) rs1554676394
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177
NM_182961.4(SYNE1):c.5421+9G>T rs376218204
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val) rs76393834
NM_182961.4(SYNE1):c.553T>C (p.Leu185=)
NM_182961.4(SYNE1):c.5666A>C (p.Gln1889Pro)
NM_182961.4(SYNE1):c.5693A>C (p.Asn1898Thr) rs917922270
NM_182961.4(SYNE1):c.581+7A>G
NM_182961.4(SYNE1):c.582-9A>G rs200412221
NM_182961.4(SYNE1):c.5820G>A (p.Gly1940=) rs773819434
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.6117A>C (p.Lys2039Asn)
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265
NM_182961.4(SYNE1):c.6226G>T (p.Glu2076Ter)
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr) rs577979265
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284
NM_182961.4(SYNE1):c.6541-12T>A
NM_182961.4(SYNE1):c.6560A>G (p.Glu2187Gly) rs886061211
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser)
NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr) rs371609288
NM_182961.4(SYNE1):c.6739A>G (p.Lys2247Glu)
NM_182961.4(SYNE1):c.68-14C>A
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe)
NM_182961.4(SYNE1):c.6826-6A>G rs183683592
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs) rs797046026
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) rs117184249
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly)
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546
NM_182961.4(SYNE1):c.6983T>C (p.Met2328Thr)
NM_182961.4(SYNE1):c.7029+15A>G rs757201043
NM_182961.4(SYNE1):c.7030-14C>T
NM_182961.4(SYNE1):c.7030-4G>C
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe) rs370016934
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.7238-11T>C rs200802315
NM_182961.4(SYNE1):c.7277A>C (p.Lys2426Thr)
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys) rs370082646
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=) rs144910464
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088
NM_182961.4(SYNE1):c.7556+14A>G rs78034368
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673
NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met) rs550027519
NM_182961.4(SYNE1):c.7713-11C>T rs201131946
NM_182961.4(SYNE1):c.7713-12C>T rs550804556
NM_182961.4(SYNE1):c.7713-4T>C rs571742202
NM_182961.4(SYNE1):c.7714G>A (p.Glu2572Lys) rs886061209
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=) rs79449810
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys) rs577888458
NM_182961.4(SYNE1):c.8004+5A>G
NM_182961.4(SYNE1):c.8005-3C>T rs117084693
NM_182961.4(SYNE1):c.8065G>A (p.Glu2689Lys)
NM_182961.4(SYNE1):c.8124G>C (p.Glu2708Asp) rs886061208
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241
NM_182961.4(SYNE1):c.8177+9C>T rs56877632
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro) rs757960938
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836
NM_182961.4(SYNE1):c.8462T>C (p.Phe2821Ser)
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132
NM_182961.4(SYNE1):c.8571T>C (p.His2857=) rs886061207
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter) rs119103243
NM_182961.4(SYNE1):c.888+4G>C
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389
NM_182961.4(SYNE1):c.9074A>T (p.Glu3025Val)
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn) rs77221231
NM_182961.4(SYNE1):c.9147-13G>A rs214955
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=) rs199554198
NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln) rs747634832
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=) rs188913729
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn) rs140508714
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071
NM_182961.4(SYNE1):c.9651+12G>A rs143173603
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys) rs1024177161
NM_182961.4(SYNE1):c.9679G>C (p.Glu3227Gln)
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.9746G>C (p.Ser3249Thr) rs886061206
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu) rs114954026
NM_182961.4(SYNE1):c.9807+14C>G rs182453040
NM_182961.4(SYNE1):c.9807+5C>T rs185350092
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) rs150912982
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=) rs200222988
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=) rs184006845
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn) rs147281213
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=) rs747731841
NM_182961.4(SYNE1):c.[20263C>T;8889del]
SYNE1, 5-BP DEL, NT334338

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