ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2191
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HGVS dbSNP
NC_000006.11:g.(?_152443551)_(152534914_?)dup
NC_000006.12:g.(?_152122416)_(153426916_?)del
NM_001282625.2(LMNA):c.-206-17C>T
NM_005572.3(LMNA):c.-210T>C rs886045356
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) rs56771886
NM_015180.5(SYNE2):c.11023-24_11023-9del rs756704685
NM_015180.5(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly) rs1555473349
NM_015180.5(SYNE2):c.12001_12002inv (p.Trp4001Gln)
NM_015180.5(SYNE2):c.13695_13707+2dup rs758985012
NM_015180.5(SYNE2):c.16328_16330AAG[1] (p.Glu5444del) rs751691446
NM_015180.5(SYNE2):c.19480_19482CTA[1] (p.Leu6496del) rs886043261
NM_015180.5(SYNE2):c.20566_20568delinsGAA (p.Ser6856Glu) rs1555564487
NM_015180.5(SYNE2):c.8403_8404inv (p.Ser2802Gly)
NM_015180.5(SYNE2):c.9284A>G (p.Lys3095Arg) rs771325522
NM_024334.2(TMEM43):c.253G>A (p.Glu85Lys) rs397514044
NM_024334.2(TMEM43):c.403G>A (p.Glu135Lys) rs140347235
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_033071.3(SYNE1):c.*750G>T rs2813558
NM_033071.3(SYNE1):c.20650-3dupT rs755011653
NM_170707.4(LMNA):c.-128T>C rs80356803
NM_170707.4(LMNA):c.-138T>C rs886045359
NM_170707.4(LMNA):c.-44T>A
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598
NM_170707.4(LMNA):c.1381-5G>A rs730880133
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro) rs1553265999
NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro) rs267607578
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) rs56699480
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188
NM_170707.4(LMNA):c.1488+14C>T rs377700689
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg) rs1572366516
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) rs60934003
NM_170707.4(LMNA):c.1608+5G>C rs267607539
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737
NM_170707.4(LMNA):c.1698+57G>A rs557334569
NM_170707.4(LMNA):c.1698+83G>A
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_170707.4(LMNA):c.356+12C>A
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.513+45T>G rs878853220
NM_170707.4(LMNA):c.514-11C>T rs886045365
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.621_623GAA[1] (p.Lys208del) rs267607540
NM_170707.4(LMNA):c.664C>T (p.His222Tyr) rs28928901
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) rs57207746
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
NM_170707.4(LMNA):c.810+13G>T rs11264444
NM_170707.4(LMNA):c.810+1G>C rs267607632
NM_170707.4(LMNA):c.811-13T>A rs80356809
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_170707.4(LMNA):c.937-8C>A rs751707982
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300
NM_182914.2(SYNE2):c.*103G>A rs112904973
NM_182914.2(SYNE2):c.*133C>A rs1152583
NM_182914.2(SYNE2):c.*145C>A rs886050602
NM_182914.2(SYNE2):c.*149G>C rs886050603
NM_182914.2(SYNE2):c.*219T>G rs886050604
NM_182914.2(SYNE2):c.*221T>C rs1048315
NM_182914.2(SYNE2):c.*305G>T rs886050605
NM_182914.2(SYNE2):c.*315C>T rs183982306
NM_182914.2(SYNE2):c.*359A>C rs886050606
NM_182914.2(SYNE2):c.*386G>C rs1152582
NM_182914.2(SYNE2):c.*489C>A rs886050607
NM_182914.2(SYNE2):c.*507C>A rs187600277
NM_182914.2(SYNE2):c.*581G>A rs7229
NM_182914.2(SYNE2):c.*661T>A rs192584109
NM_182914.2(SYNE2):c.*662T>A rs13136
NM_182914.2(SYNE2):c.*663A>T rs544882576
NM_182914.2(SYNE2):c.*695T>G rs886050608
NM_182914.2(SYNE2):c.*696A>G rs184175256
NM_182914.2(SYNE2):c.*720C>T rs539694463
NM_182914.2(SYNE2):c.*732G>A rs886050609
NM_182914.2(SYNE2):c.*734T>A rs886050610
NM_182914.2(SYNE2):c.*827G>A rs870404
NM_182914.2(SYNE2):c.-107G>A rs886050577
NM_182914.2(SYNE2):c.-128A>T rs886050576
NM_182914.2(SYNE2):c.-169C>T rs886050575
NM_182914.2(SYNE2):c.-202G>C rs552973060
NM_182914.2(SYNE2):c.-209A>T rs886050574
NM_182914.2(SYNE2):c.-224C>T rs143315154
NM_182914.2(SYNE2):c.-52+9G>A rs535493323
NM_182914.2(SYNE2):c.10095A>G (p.Arg3365=) rs756893550
NM_182914.2(SYNE2):c.10164G>A (p.Ser3388=) rs772208833
NM_182914.2(SYNE2):c.10196G>A (p.Arg3399His) rs36039501
NM_182914.2(SYNE2):c.10218G>T (p.Leu3406Phe) rs201421128
NM_182914.2(SYNE2):c.10267A>T (p.Ile3423Phe) rs779367486
NM_182914.2(SYNE2):c.10269C>G (p.Ile3423Met) rs35920722
NM_182914.2(SYNE2):c.10306G>A (p.Gly3436Ser) rs768614412
NM_182914.2(SYNE2):c.10313G>A (p.Cys3438Tyr) rs144108695
NM_182914.2(SYNE2):c.10327G>A (p.Val3443Met) rs564182126
NM_182914.2(SYNE2):c.10331C>T (p.Ser3444Leu) rs372338837
NM_182914.2(SYNE2):c.10386G>A (p.Met3462Ile) rs780632525
NM_182914.2(SYNE2):c.10392C>T (p.Cys3464=) rs373646325
NM_182914.2(SYNE2):c.10494A>G (p.Thr3498=) rs201000414
NM_182914.2(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825
NM_182914.2(SYNE2):c.10510A>G (p.Thr3504Ala) rs190518140
NM_182914.2(SYNE2):c.10552G>A (p.Gly3518Arg) rs1555462898
NM_182914.2(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186
NM_182914.2(SYNE2):c.10582C>G (p.Leu3528Val) rs374649578
NM_182914.2(SYNE2):c.10597C>G (p.Gln3533Glu) rs200040718
NM_182914.2(SYNE2):c.1060C>T (p.Arg354Trp) rs374073818
NM_182914.2(SYNE2):c.10760C>T (p.Ser3587Phe) rs748430621
NM_182914.2(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192
NM_182914.2(SYNE2):c.10844C>T (p.Pro3615Leu) rs549458287
NM_182914.2(SYNE2):c.10881C>T (p.Ile3627=) rs750125057
NM_182914.2(SYNE2):c.10924C>A (p.Leu3642Met) rs1595351833
NM_182914.2(SYNE2):c.10928G>A (p.Arg3643Gln) rs748433814
NM_182914.2(SYNE2):c.10947G>A (p.Met3649Ile) rs772140514
NM_182914.2(SYNE2):c.11016T>C (p.Asp3672=) rs886050584
NM_182914.2(SYNE2):c.11023-5C>G rs112833938
NM_182914.2(SYNE2):c.11047T>A (p.Ser3683Thr) rs199977941
NM_182914.2(SYNE2):c.11061A>G (p.Ala3687=) rs769752720
NM_182914.2(SYNE2):c.11164-4C>T rs370961691
NM_182914.2(SYNE2):c.11174A>G (p.Asp3725Gly) rs1595379549
NM_182914.2(SYNE2):c.11259A>C (p.Gln3753His) rs1226574131
NM_182914.2(SYNE2):c.11282T>A (p.Ile3761Asn) rs767934367
NM_182914.2(SYNE2):c.11313G>C (p.Gln3771His) rs144596211
NM_182914.2(SYNE2):c.11323T>A (p.Cys3775Ser) rs753899883
NM_182914.2(SYNE2):c.11336A>G (p.Gln3779Arg) rs538884693
NM_182914.2(SYNE2):c.11379T>C (p.Leu3793=) rs149391344
NM_182914.2(SYNE2):c.11385G>A (p.Lys3795=) rs34954189
NM_182914.2(SYNE2):c.11411C>G (p.Thr3804Ser) rs367893963
NM_182914.2(SYNE2):c.11441A>G (p.Tyr3814Cys) rs780583186
NM_182914.2(SYNE2):c.11462G>A (p.Ser3821Asn) rs1555469449
NM_182914.2(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054
NM_182914.2(SYNE2):c.11530A>G (p.Ile3844Val) rs140243093
NM_182914.2(SYNE2):c.11549A>G (p.Asp3850Gly) rs527339341
NM_182914.2(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149
NM_182914.2(SYNE2):c.11550C>A (p.Asp3850Glu) rs146261323
NM_182914.2(SYNE2):c.11613A>G (p.Val3871=) rs17101637
NM_182914.2(SYNE2):c.11615C>T (p.Thr3872Ile) rs1595432634
NM_182914.2(SYNE2):c.11656C>G (p.Gln3886Glu) rs1235280357
NM_182914.2(SYNE2):c.11660G>A (p.Arg3887Gln) rs181798411
NM_182914.2(SYNE2):c.11671-4C>A rs193068394
NM_182914.2(SYNE2):c.11729A>G (p.Lys3910Arg) rs142616444
NM_182914.2(SYNE2):c.11834C>T (p.Ala3945Val) rs756937805
NM_182914.2(SYNE2):c.11876C>T (p.Thr3959Ile) rs149790389
NM_182914.2(SYNE2):c.11900T>G (p.Phe3967Cys) rs1567266829
NM_182914.2(SYNE2):c.11905C>T (p.Arg3969Trp) rs141498263
NM_182914.2(SYNE2):c.11906G>A (p.Arg3969Gln) rs563332131
NM_182914.2(SYNE2):c.11935C>G (p.Leu3979Val) rs76576553
NM_182914.2(SYNE2):c.11937A>G (p.Leu3979=) rs147744381
NM_182914.2(SYNE2):c.11944A>C (p.Asn3982His) rs10137972
NM_182914.2(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.2(SYNE2):c.1195C>A (p.Leu399Ile) rs751800008
NM_182914.2(SYNE2):c.11976+5G>A rs772490248
NM_182914.2(SYNE2):c.11993C>T (p.Thr3998Ile) rs886050585
NM_182914.2(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205
NM_182914.2(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377
NM_182914.2(SYNE2):c.12037A>T (p.Asn4013Tyr) rs1555478028
NM_182914.2(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958
NM_182914.2(SYNE2):c.12056T>G (p.Phe4019Cys) rs150105416
NM_182914.2(SYNE2):c.12064G>A (p.Glu4022Lys) rs886050586
NM_182914.2(SYNE2):c.12108+3A>G rs751551602
NM_182914.2(SYNE2):c.12118G>A (p.Glu4040Lys) rs1245656240
NM_182914.2(SYNE2):c.12121C>T (p.Arg4041Cys) rs146197259
NM_182914.2(SYNE2):c.12122G>A (p.Arg4041His) rs17101661
NM_182914.2(SYNE2):c.12151C>G (p.Gln4051Glu) rs149546014
NM_182914.2(SYNE2):c.12190G>A (p.Val4064Ile) rs144164967
NM_182914.2(SYNE2):c.12192A>G (p.Val4064=) rs374645403
NM_182914.2(SYNE2):c.12194T>C (p.Leu4065Pro) rs780016521
NM_182914.2(SYNE2):c.12226G>A (p.Glu4076Lys) rs1567288490
NM_182914.2(SYNE2):c.12238A>G (p.Arg4080Gly) rs769301000
NM_182914.2(SYNE2):c.12239G>A (p.Arg4080Lys) rs886042419
NM_182914.2(SYNE2):c.12253G>A (p.Ala4085Thr) rs772564360
NM_182914.2(SYNE2):c.12299A>C (p.Glu4100Ala) rs779963258
NM_182914.2(SYNE2):c.12302G>A (p.Arg4101Gln) rs372624638
NM_182914.2(SYNE2):c.12311A>C (p.Asn4104Thr) rs886050587
NM_182914.2(SYNE2):c.12325A>G (p.Met4109Val) rs1296085055
NM_182914.2(SYNE2):c.12352G>A (p.Glu4118Lys) rs763188798
NM_182914.2(SYNE2):c.12370G>T (p.Val4124Leu) rs370255444
NM_182914.2(SYNE2):c.12378C>T (p.Ser4126=) rs36007735
NM_182914.2(SYNE2):c.12381+5G>A rs771680833
NM_182914.2(SYNE2):c.12381+6G>A rs781486571
NM_182914.2(SYNE2):c.12382-14G>T rs77622144
NM_182914.2(SYNE2):c.12437A>G (p.His4146Arg) rs375035375
NM_182914.2(SYNE2):c.12445G>T (p.Asp4149Tyr) rs1555485325
NM_182914.2(SYNE2):c.12457G>C (p.Asp4153His) rs1595531126
NM_182914.2(SYNE2):c.12470C>T (p.Ser4157Leu) rs1567303775
NM_182914.2(SYNE2):c.12492+12C>T rs368374335
NM_182914.2(SYNE2):c.12529A>G (p.Met4177Val) rs772354856
NM_182914.2(SYNE2):c.12560A>T (p.Asn4187Ile) rs34480732
NM_182914.2(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848
NM_182914.2(SYNE2):c.12596A>G (p.Asn4199Ser) rs35223918
NM_182914.2(SYNE2):c.12609+1G>T rs745516407
NM_182914.2(SYNE2):c.12610G>T (p.Gly4204Cys) rs886050588
NM_182914.2(SYNE2):c.12612C>T (p.Gly4204=) rs114604397
NM_182914.2(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235
NM_182914.2(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118
NM_182914.2(SYNE2):c.12636C>G (p.Asp4212Glu) rs752924139
NM_182914.2(SYNE2):c.12637A>C (p.Thr4213Pro) rs886050589
NM_182914.2(SYNE2):c.12655G>A (p.Ala4219Thr) rs138644399
NM_182914.2(SYNE2):c.12655G>C (p.Ala4219Pro) rs138644399
NM_182914.2(SYNE2):c.12660A>G (p.Gln4220=) rs745820221
NM_182914.2(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737
NM_182914.2(SYNE2):c.12695C>T (p.Pro4232Leu) rs139959852
NM_182914.2(SYNE2):c.12739G>A (p.Glu4247Lys) rs886050590
NM_182914.2(SYNE2):c.12771G>A (p.Val4257=) rs556280812
NM_182914.2(SYNE2):c.12796G>A (p.Ala4266Thr) rs1316995826
NM_182914.2(SYNE2):c.12840+12A>G rs886050591
NM_182914.2(SYNE2):c.12840+8T>C rs145218296
NM_182914.2(SYNE2):c.128C>T (p.Ser43Leu) rs754783984
NM_182914.2(SYNE2):c.12903C>T (p.Gly4301=) rs148708516
NM_182914.2(SYNE2):c.12931G>A (p.Glu4311Lys) rs142277402
NM_182914.2(SYNE2):c.12941C>T (p.Ala4314Val) rs769993001
NM_182914.2(SYNE2):c.12942G>A (p.Ala4314=) rs762957203
NM_182914.2(SYNE2):c.1296C>A (p.Ser432Arg) rs35554503
NM_182914.2(SYNE2):c.12984A>G (p.Lys4328=) rs151314114
NM_182914.2(SYNE2):c.13020_13023+12delinsGATCT rs1555495562
NM_182914.2(SYNE2):c.13021C>G (p.Gln4341Glu) rs367698099
NM_182914.2(SYNE2):c.13065A>G (p.Gln4355=) rs7147884
NM_182914.2(SYNE2):c.13141G>T (p.Asp4381Tyr) rs1595663501
NM_182914.2(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551
NM_182914.2(SYNE2):c.13159G>C (p.Val4387Leu) rs764515386
NM_182914.2(SYNE2):c.1318C>T (p.His440Tyr) rs761844853
NM_182914.2(SYNE2):c.13234C>T (p.Gln4412Ter) rs1427446795
NM_182914.2(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513
NM_182914.2(SYNE2):c.13256A>G (p.Asp4419Gly) rs376129364
NM_182914.2(SYNE2):c.13266G>A (p.Gln4422=) rs34944385
NM_182914.2(SYNE2):c.13280+3A>G rs113145581
NM_182914.2(SYNE2):c.13281-6C>T rs376973894
NM_182914.2(SYNE2):c.13377C>G (p.Leu4459=) rs141379692
NM_182914.2(SYNE2):c.13423-7C>G rs7140414
NM_182914.2(SYNE2):c.13423G>A (p.Val4475Ile) rs200498250
NM_182914.2(SYNE2):c.13424T>C (p.Val4475Ala) rs146977539
NM_182914.2(SYNE2):c.13457C>G (p.Thr4486Ser) rs377086810
NM_182914.2(SYNE2):c.13466A>G (p.Asn4489Ser) rs747349342
NM_182914.2(SYNE2):c.13510C>G (p.Gln4504Glu) rs372861398
NM_182914.2(SYNE2):c.13524G>C (p.Leu4508=) rs373702093
NM_182914.2(SYNE2):c.13526G>A (p.Arg4509His) rs200946949
NM_182914.2(SYNE2):c.1356A>C (p.Glu452Asp) rs199748407
NM_182914.2(SYNE2):c.13570G>A (p.Glu4524Lys) rs143646847
NM_182914.2(SYNE2):c.13687G>C (p.Gly4563Arg) rs1595697916
NM_182914.2(SYNE2):c.13689C>T (p.Gly4563=) rs186567969
NM_182914.2(SYNE2):c.13707+10T>C rs61987277
NM_182914.2(SYNE2):c.13708-14C>A rs11850329
NM_182914.2(SYNE2):c.1384A>G (p.Lys462Glu) rs753039223
NM_182914.2(SYNE2):c.13850C>T (p.Thr4617Ile) rs148582250
NM_182914.2(SYNE2):c.13861G>A (p.Ala4621Thr) rs745357432
NM_182914.2(SYNE2):c.13883T>C (p.Leu4628Pro) rs559503999
NM_182914.2(SYNE2):c.13906C>T (p.Arg4636Cys) rs767673156
NM_182914.2(SYNE2):c.13917+10C>T rs760288753
NM_182914.2(SYNE2):c.13918-10T>C rs184683378
NM_182914.2(SYNE2):c.13918-6T>C rs187859624
NM_182914.2(SYNE2):c.13983T>C (p.Asn4661=) rs200656842
NM_182914.2(SYNE2):c.14053G>T (p.Ala4685Ser) rs779457100
NM_182914.2(SYNE2):c.14057A>G (p.Glu4686Gly) rs10133691
NM_182914.2(SYNE2):c.14071A>G (p.Lys4691Glu) rs143798878
NM_182914.2(SYNE2):c.14088G>A (p.Gly4696=) rs200893674
NM_182914.2(SYNE2):c.14104C>A (p.Pro4702Thr) rs111880729
NM_182914.2(SYNE2):c.14110G>T (p.Ala4704Ser) rs886050592
NM_182914.2(SYNE2):c.1412A>G (p.Asn471Ser) rs1596005286
NM_182914.2(SYNE2):c.14139+5G>A rs374778697
NM_182914.2(SYNE2):c.14157G>T (p.Met4719Ile) rs140797941
NM_182914.2(SYNE2):c.14184A>G (p.Thr4728=) rs753123786
NM_182914.2(SYNE2):c.14196C>G (p.Ser4732Arg) rs749317592
NM_182914.2(SYNE2):c.14197C>A (p.Pro4733Thr) rs75568433
NM_182914.2(SYNE2):c.14203G>A (p.Val4735Ile) rs538224852
NM_182914.2(SYNE2):c.14225C>T (p.Ala4742Val) rs373034895
NM_182914.2(SYNE2):c.14229G>T (p.Leu4743Phe) rs772739903
NM_182914.2(SYNE2):c.14313G>A (p.Ala4771=) rs148690779
NM_182914.2(SYNE2):c.14327T>C (p.Ile4776Thr) rs563179946
NM_182914.2(SYNE2):c.14340+11C>T rs374706268
NM_182914.2(SYNE2):c.14430A>G (p.Thr4810=) rs34248042
NM_182914.2(SYNE2):c.14460A>C (p.Lys4820Asn) rs574306382
NM_182914.2(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641
NM_182914.2(SYNE2):c.144C>T (p.His48=) rs751515594
NM_182914.2(SYNE2):c.14518T>C (p.Trp4840Arg) rs148323208
NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398
NM_182914.2(SYNE2):c.14544A>G (p.Ala4848=) rs150819349
NM_182914.2(SYNE2):c.1463A>G (p.Lys488Arg) rs1437677917
NM_182914.2(SYNE2):c.14644C>T (p.Gln4882Ter) rs1555503635
NM_182914.2(SYNE2):c.14646+6T>A rs369760846
NM_182914.2(SYNE2):c.1471G>A (p.Val491Ile) rs1596005659
NM_182914.2(SYNE2):c.14720C>T (p.Ala4907Val) rs144804554
NM_182914.2(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354
NM_182914.2(SYNE2):c.14737G>A (p.Glu4913Lys) rs12881815
NM_182914.2(SYNE2):c.14776T>C (p.Leu4926=) rs8007874
NM_182914.2(SYNE2):c.14792A>G (p.Lys4931Arg) rs147640636
NM_182914.2(SYNE2):c.14812A>G (p.Arg4938Gly) rs1258752132
NM_182914.2(SYNE2):c.1482G>A (p.Leu494=) rs117567094
NM_182914.2(SYNE2):c.14844-5G>C rs17825431
NM_182914.2(SYNE2):c.14900T>C (p.Leu4967Pro) rs1555506605
NM_182914.2(SYNE2):c.14920T>G (p.Ser4974Ala) rs142514437
NM_182914.2(SYNE2):c.14941T>C (p.Leu4981=) rs376940871
NM_182914.2(SYNE2):c.14976+10A>G rs367888426
NM_182914.2(SYNE2):c.14976+3A>G rs747632731
NM_182914.2(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017
NM_182914.2(SYNE2):c.15006C>T (p.Ser5002=) rs143686889
NM_182914.2(SYNE2):c.15028A>G (p.Ser5010Gly) rs754937863
NM_182914.2(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146
NM_182914.2(SYNE2):c.15050A>T (p.His5017Leu) rs1387380431
NM_182914.2(SYNE2):c.15132T>A (p.Leu5044=) rs201429908
NM_182914.2(SYNE2):c.15165A>G (p.Gln5055=) rs145021738
NM_182914.2(SYNE2):c.15180G>A (p.Pro5060=) rs139006816
NM_182914.2(SYNE2):c.15187A>C (p.Lys5063Gln) rs746864967
NM_182914.2(SYNE2):c.15218A>G (p.Asn5073Ser) rs142274277
NM_182914.2(SYNE2):c.15219C>T (p.Asn5073=) rs762722997
NM_182914.2(SYNE2):c.15234A>G (p.Gln5078=) rs139340468
NM_182914.2(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373
NM_182914.2(SYNE2):c.15252C>T (p.Ser5084=) rs757659613
NM_182914.2(SYNE2):c.15256C>T (p.His5086Tyr) rs2039475
NM_182914.2(SYNE2):c.15263C>A (p.Pro5088Gln) rs779934215
NM_182914.2(SYNE2):c.15351C>T (p.Phe5117=) rs569092674
NM_182914.2(SYNE2):c.15385G>A (p.Asp5129Asn) rs931728993
NM_182914.2(SYNE2):c.15446G>T (p.Arg5149Leu) rs142206385
NM_182914.2(SYNE2):c.15457C>T (p.Arg5153Cys) rs770267414
NM_182914.2(SYNE2):c.15483+13G>A rs369303929
NM_182914.2(SYNE2):c.15495A>G (p.Leu5165=) rs1555509783
NM_182914.2(SYNE2):c.15527A>T (p.Glu5176Val) rs1595828652
NM_182914.2(SYNE2):c.15543C>T (p.Ile5181=) rs11629287
NM_182914.2(SYNE2):c.15552C>T (p.Asn5184=) rs201334658
NM_182914.2(SYNE2):c.15556C>A (p.Leu5186Met) rs10151658
NM_182914.2(SYNE2):c.15667T>A (p.Ser5223Thr) rs150361559
NM_182914.2(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874
NM_182914.2(SYNE2):c.15720A>C (p.Ala5240=) rs370147066
NM_182914.2(SYNE2):c.15749G>A (p.Arg5250Gln) rs201962497
NM_182914.2(SYNE2):c.15774A>G (p.Arg5258=) rs1595869914
NM_182914.2(SYNE2):c.15781G>A (p.Val5261Ile) rs144605670
NM_182914.2(SYNE2):c.15794T>C (p.Val5265Ala) rs142660236
NM_182914.2(SYNE2):c.15822A>T (p.Ser5274=) rs184241655
NM_182914.2(SYNE2):c.15848A>G (p.Asp5283Gly) rs138797058
NM_182914.2(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607
NM_182914.2(SYNE2):c.15859G>A (p.Asp5287Asn) rs188953744
NM_182914.2(SYNE2):c.15865G>A (p.Val5289Met) rs181059522
NM_182914.2(SYNE2):c.15884G>T (p.Arg5295Leu) rs769633528
NM_182914.2(SYNE2):c.15928T>C (p.Leu5310=) rs74975380
NM_182914.2(SYNE2):c.15929T>C (p.Leu5310Ser) rs199976741
NM_182914.2(SYNE2):c.16037G>A (p.Gly5346Asp) rs751652922
NM_182914.2(SYNE2):c.16065C>A (p.Ile5355=) rs36002764
NM_182914.2(SYNE2):c.16088A>G (p.His5363Arg) rs150677837
NM_182914.2(SYNE2):c.16095-10G>A rs139126909
NM_182914.2(SYNE2):c.16109A>C (p.Asn5370Thr) rs760687493
NM_182914.2(SYNE2):c.16127A>G (p.Gln5376Arg) rs753646712
NM_182914.2(SYNE2):c.16156C>T (p.Leu5386Phe) rs184745422
NM_182914.2(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048
NM_182914.2(SYNE2):c.16184G>A (p.Gly5395Asp) rs775698210
NM_182914.2(SYNE2):c.16195G>A (p.Ala5399Thr) rs140265039
NM_182914.2(SYNE2):c.16300G>A (p.Glu5434Lys) rs886050594
NM_182914.2(SYNE2):c.16305G>A (p.Leu5435=) rs116758464
NM_182914.2(SYNE2):c.16312G>A (p.Asp5438Asn) rs201134182
NM_182914.2(SYNE2):c.16313A>G (p.Asp5438Gly) rs374348890
NM_182914.2(SYNE2):c.16349C>G (p.Ser5450Cys) rs757857559
NM_182914.2(SYNE2):c.16374A>T (p.Gln5458His) rs191057574
NM_182914.2(SYNE2):c.16378G>A (p.Ala5460Thr) rs775169295
NM_182914.2(SYNE2):c.16405C>A (p.Pro5469Thr) rs148492034
NM_182914.2(SYNE2):c.16410C>G (p.Gly5470=) rs200393620
NM_182914.2(SYNE2):c.16419C>T (p.His5473=) rs138209076
NM_182914.2(SYNE2):c.16420T>A (p.Ser5474Thr) rs114483901
NM_182914.2(SYNE2):c.16479+15T>G rs80199180
NM_182914.2(SYNE2):c.16480-1G>A rs1595931919
NM_182914.2(SYNE2):c.16480-9T>G rs776380039
NM_182914.2(SYNE2):c.16510G>A (p.Val5504Ile) rs1405152996
NM_182914.2(SYNE2):c.16522T>A (p.Ser5508Thr) rs35190322
NM_182914.2(SYNE2):c.16591C>A (p.Pro5531Thr) rs145036293
NM_182914.2(SYNE2):c.165C>T (p.Ser55=) rs143451415
NM_182914.2(SYNE2):c.16605+10A>G rs761193543
NM_182914.2(SYNE2):c.16605+9A>G rs775937516
NM_182914.2(SYNE2):c.16639G>A (p.Asp5547Asn) rs17179194
NM_182914.2(SYNE2):c.16640A>G (p.Asp5547Gly) rs150415189
NM_182914.2(SYNE2):c.16700C>T (p.Thr5567Met) rs527368157
NM_182914.2(SYNE2):c.16701G>T (p.Thr5567=) rs200950664
NM_182914.2(SYNE2):c.16717C>T (p.Arg5573Trp) rs138323662
NM_182914.2(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847
NM_182914.2(SYNE2):c.16722A>G (p.Gln5574=) rs17101704
NM_182914.2(SYNE2):c.16737G>A (p.Thr5579=) rs147156341
NM_182914.2(SYNE2):c.16743G>A (p.Thr5581=) rs138769395
NM_182914.2(SYNE2):c.16754G>A (p.Arg5585His) rs141144237
NM_182914.2(SYNE2):c.16782G>A (p.Leu5594=) rs540356646
NM_182914.2(SYNE2):c.16816A>G (p.Ile5606Val) rs1595946488
NM_182914.2(SYNE2):c.16844C>T (p.Ala5615Val) rs372515789
NM_182914.2(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222
NM_182914.2(SYNE2):c.16863T>C (p.Ala5621=) rs200618488
NM_182914.2(SYNE2):c.1689G>A (p.Val563=) rs756480117
NM_182914.2(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028
NM_182914.2(SYNE2):c.17001-8T>C rs768210935
NM_182914.2(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925
NM_182914.2(SYNE2):c.17038C>T (p.Arg5680Trp) rs143377752
NM_182914.2(SYNE2):c.17177T>C (p.Val5726Ala) rs944538946
NM_182914.2(SYNE2):c.17188G>A (p.Glu5730Lys) rs368540403
NM_182914.2(SYNE2):c.17202C>A (p.Leu5734=) rs7161192
NM_182914.2(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035
NM_182914.2(SYNE2):c.17235+5T>C rs777252251
NM_182914.2(SYNE2):c.17264G>A (p.Arg5755Gln) rs368893421
NM_182914.2(SYNE2):c.17334G>T (p.Glu5778Asp) rs1349823978
NM_182914.2(SYNE2):c.17352C>A (p.Ile5784=) rs371404598
NM_182914.2(SYNE2):c.17388C>T (p.Pro5796=) rs35744699
NM_182914.2(SYNE2):c.17423C>T (p.Thr5808Ile) rs139361264
NM_182914.2(SYNE2):c.17431-3T>C rs886050595
NM_182914.2(SYNE2):c.17431A>G (p.Thr5811Ala) rs1596007501
NM_182914.2(SYNE2):c.17444G>A (p.Cys5815Tyr) rs143784708
NM_182914.2(SYNE2):c.17504A>G (p.Asp5835Gly) rs147097998
NM_182914.2(SYNE2):c.17524G>A (p.Glu5842Lys) rs769564739
NM_182914.2(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580
NM_182914.2(SYNE2):c.17539G>C (p.Glu5847Gln) rs201427580
NM_182914.2(SYNE2):c.17556+4T>C rs2297301
NM_182914.2(SYNE2):c.17557G>C (p.Glu5853Gln) rs1158170304
NM_182914.2(SYNE2):c.17560C>A (p.Leu5854Ile) rs773797629
NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973
NM_182914.2(SYNE2):c.17591A>G (p.Asn5864Ser) rs566886977
NM_182914.2(SYNE2):c.1760G>T (p.Cys587Phe) rs1555410673
NM_182914.2(SYNE2):c.17635G>A (p.Val5879Ile) rs555731479
NM_182914.2(SYNE2):c.17685C>T (p.His5895=) rs1596080039
NM_182914.2(SYNE2):c.17713G>A (p.Val5905Met) rs778679729
NM_182914.2(SYNE2):c.17717C>A (p.Ala5906Asp) rs755652581
NM_182914.2(SYNE2):c.17791G>A (p.Ala5931Thr) rs945430507
NM_182914.2(SYNE2):c.17832G>A (p.Ala5944=) rs886050596
NM_182914.2(SYNE2):c.1787G>A (p.Arg596His) rs764379968
NM_182914.2(SYNE2):c.17892C>T (p.Asn5964=) rs201827003
NM_182914.2(SYNE2):c.17938T>C (p.Leu5980=) rs2256191
NM_182914.2(SYNE2):c.18000C>A (p.Asn6000Lys) rs150002885
NM_182914.2(SYNE2):c.18001G>A (p.Asp6001Asn) rs769737846
NM_182914.2(SYNE2):c.18037A>C (p.Arg6013=) rs375971416
NM_182914.2(SYNE2):c.18038+5G>A rs1328692834
NM_182914.2(SYNE2):c.18039-5T>A rs189611387
NM_182914.2(SYNE2):c.18085A>G (p.Lys6029Glu) rs1016575974
NM_182914.2(SYNE2):c.18104G>A (p.Arg6035His) rs963291095
NM_182914.2(SYNE2):c.18114G>A (p.Leu6038=) rs1567630913
NM_182914.2(SYNE2):c.18121A>G (p.Ile6041Val) rs886050597
NM_182914.2(SYNE2):c.18169C>G (p.Gln6057Glu) rs919132800
NM_182914.2(SYNE2):c.18180G>C (p.Gln6060His) rs771893487
NM_182914.2(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.2(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439
NM_182914.2(SYNE2):c.1823A>G (p.Glu608Gly) rs765250294
NM_182914.2(SYNE2):c.18264C>T (p.Asp6088=) rs182985921
NM_182914.2(SYNE2):c.18304G>A (p.Glu6102Lys) rs560736067
NM_182914.2(SYNE2):c.18315G>A (p.Ser6105=) rs202084149
NM_182914.2(SYNE2):c.18346C>T (p.Arg6116Cys) rs762858190
NM_182914.2(SYNE2):c.1837-11G>A rs770407054
NM_182914.2(SYNE2):c.18385A>G (p.Met6129Val) rs766731181
NM_182914.2(SYNE2):c.18389+7A>T rs372337180
NM_182914.2(SYNE2):c.18429C>T (p.Asp6143=) rs559412468
NM_182914.2(SYNE2):c.1842C>T (p.Pro614=) rs1192547176
NM_182914.2(SYNE2):c.1844T>C (p.Phe615Ser) rs369877790
NM_182914.2(SYNE2):c.18509C>T (p.Thr6170Met) rs200893937
NM_182914.2(SYNE2):c.1852C>G (p.Leu618Val) rs199697908
NM_182914.2(SYNE2):c.18541-9G>A rs886050598
NM_182914.2(SYNE2):c.18595C>G (p.Gln6199Glu) rs375497206
NM_182914.2(SYNE2):c.18603G>A (p.Arg6201=) rs141051652
NM_182914.2(SYNE2):c.18622C>T (p.Arg6208Cys) rs377305355
NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895
NM_182914.2(SYNE2):c.18641G>A (p.Arg6214Lys) rs200152990
NM_182914.2(SYNE2):c.18662A>G (p.Glu6221Gly) rs1410409309
NM_182914.2(SYNE2):c.1867C>G (p.Leu623Val) rs886050579
NM_182914.2(SYNE2):c.18723+8C>T rs200853043
NM_182914.2(SYNE2):c.1873C>T (p.His625Tyr) rs192061494
NM_182914.2(SYNE2):c.18835G>A (p.Ala6279Thr) rs145871645
NM_182914.2(SYNE2):c.18963G>T (p.Leu6321=) rs757232346
NM_182914.2(SYNE2):c.19011T>G (p.Phe6337Leu) rs761432348
NM_182914.2(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853
NM_182914.2(SYNE2):c.19056+10C>T rs369172478
NM_182914.2(SYNE2):c.19088A>G (p.Asn6363Ser) rs199566869
NM_182914.2(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640
NM_182914.2(SYNE2):c.19136G>A (p.Arg6379His) rs150629598
NM_182914.2(SYNE2):c.1914C>T (p.Val638=) rs756044885
NM_182914.2(SYNE2):c.19185T>C (p.His6395=) rs146775592
NM_182914.2(SYNE2):c.19194C>T (p.Ala6398=) rs144599409
NM_182914.2(SYNE2):c.19204G>A (p.Glu6402Lys) rs200971467
NM_182914.2(SYNE2):c.19248C>G (p.Pro6416=) rs150363140
NM_182914.2(SYNE2):c.19310G>A (p.Gly6437Asp) rs1555551887
NM_182914.2(SYNE2):c.19323C>T (p.Ser6441=) rs186839881
NM_182914.2(SYNE2):c.19328T>C (p.Leu6443Pro) rs1555551908
NM_182914.2(SYNE2):c.19333+5C>T rs1152590
NM_182914.2(SYNE2):c.19391A>C (p.Lys6464Thr) rs1555552449
NM_182914.2(SYNE2):c.19415C>T (p.Ser6472Leu) rs150955173
NM_182914.2(SYNE2):c.19417G>C (p.Asp6473His) rs140940287
NM_182914.2(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
NM_182914.2(SYNE2):c.19458C>T (p.Pro6486=) rs144593270
NM_182914.2(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358
NM_182914.2(SYNE2):c.19581A>C (p.Lys6527Asn) rs141550472
NM_182914.2(SYNE2):c.19623C>T (p.Asp6541=) rs150366060
NM_182914.2(SYNE2):c.19636G>A (p.Gly6546Ser) rs199577239
NM_182914.2(SYNE2):c.19639A>G (p.Ile6547Val) rs45453691
NM_182914.2(SYNE2):c.19646A>G (p.Glu6549Gly) rs1567679516
NM_182914.2(SYNE2):c.19691A>G (p.Gln6564Arg) rs1567682749
NM_182914.2(SYNE2):c.19747A>G (p.Ile6583Val) rs771974044
NM_182914.2(SYNE2):c.19763C>T (p.Thr6588Ile) rs752030533
NM_182914.2(SYNE2):c.19823A>T (p.Asp6608Val) rs372546949
NM_182914.2(SYNE2):c.19857G>T (p.Leu6619=) rs35648226
NM_182914.2(SYNE2):c.19867C>T (p.Leu6623=) rs139826953
NM_182914.2(SYNE2):c.19892C>T (p.Ala6631Val) rs747881699
NM_182914.2(SYNE2):c.19938C>T (p.Thr6646=) rs765762035
NM_182914.2(SYNE2):c.19962C>G (p.Leu6654=) rs139326092
NM_182914.2(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500
NM_182914.2(SYNE2):c.19973T>A (p.Leu6658His) rs1555558485
NM_182914.2(SYNE2):c.2001+8C>A rs1594650966
NM_182914.2(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571
NM_182914.2(SYNE2):c.20028A>G (p.Arg6676=) rs759606978
NM_182914.2(SYNE2):c.20029G>A (p.Gly6677Arg) rs767622970
NM_182914.2(SYNE2):c.20045C>T (p.Ser6682Leu) rs201256334
NM_182914.2(SYNE2):c.20061+4C>T rs373128678
NM_182914.2(SYNE2):c.20061+5G>A rs774599138
NM_182914.2(SYNE2):c.20062-119G>C rs1152588
NM_182914.2(SYNE2):c.20073G>C (p.Gln6691His) rs1555559928
NM_182914.2(SYNE2):c.20103G>A (p.Ala6701=) rs75079588
NM_182914.2(SYNE2):c.20117G>A (p.Arg6706Gln) rs35831865
NM_182914.2(SYNE2):c.2013G>A (p.Leu671=) rs371320284
NM_182914.2(SYNE2):c.20140G>A (p.Asp6714Asn) rs751000273
NM_182914.2(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578
NM_182914.2(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155
NM_182914.2(SYNE2):c.20191-8G>C rs1596324923
NM_182914.2(SYNE2):c.20197G>A (p.Glu6733Lys) rs150172232
NM_182914.2(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938
NM_182914.2(SYNE2):c.20206C>G (p.Leu6736Val) rs779852124
NM_182914.2(SYNE2):c.20215C>T (p.Arg6739Cys) rs142809757
NM_182914.2(SYNE2):c.20216G>A (p.Arg6739His) rs532853602
NM_182914.2(SYNE2):c.2023A>G (p.Ile675Val) rs199854951
NM_182914.2(SYNE2):c.20240A>C (p.Gln6747Pro) rs147470935
NM_182914.2(SYNE2):c.20245A>T (p.Ile6749Phe) rs886050599
NM_182914.2(SYNE2):c.2026A>G (p.Lys676Glu) rs78191145
NM_182914.2(SYNE2):c.20286T>C (p.Cys6762=) rs77065534
NM_182914.2(SYNE2):c.20303A>C (p.Lys6768Thr) rs775768707
NM_182914.2(SYNE2):c.20315T>C (p.Ile6772Thr) rs1474759634
NM_182914.2(SYNE2):c.20338C>G (p.Arg6780Gly) rs138437515
NM_182914.2(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.2(SYNE2):c.20366C>A (p.Ala6789Asp) rs765411016
NM_182914.2(SYNE2):c.20382+9A>G rs116394628
NM_182914.2(SYNE2):c.20383-13G>A rs118059639
NM_182914.2(SYNE2):c.20383-15G>T rs886050600
NM_182914.2(SYNE2):c.20383-9G>A rs373857906
NM_182914.2(SYNE2):c.20409C>T (p.Phe6803=) rs1233622581
NM_182914.2(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129
NM_182914.2(SYNE2):c.20423C>T (p.Ser6808Leu) rs372922867
NM_182914.2(SYNE2):c.20424G>A (p.Ser6808=) rs187841473
NM_182914.2(SYNE2):c.20428G>T (p.Asp6810Tyr) rs1370786771
NM_182914.2(SYNE2):c.20448C>T (p.Ser6816=) rs546213944
NM_182914.2(SYNE2):c.2044A>C (p.Thr682Pro) rs1594659210
NM_182914.2(SYNE2):c.20462G>A (p.Arg6821Gln) rs148791608
NM_182914.2(SYNE2):c.20470-7C>G rs1555563835
NM_182914.2(SYNE2):c.20497G>A (p.Glu6833Lys) rs58154675
NM_182914.2(SYNE2):c.20519T>A (p.Val6840Asp) rs758858068
NM_182914.2(SYNE2):c.20523C>T (p.Pro6841=) rs751852545
NM_182914.2(SYNE2):c.20524G>A (p.Gly6842Ser) rs201538331
NM_182914.2(SYNE2):c.20524G>C (p.Gly6842Arg) rs201538331
NM_182914.2(SYNE2):c.20536C>T (p.Pro6846Ser) rs147848144
NM_182914.2(SYNE2):c.20542C>T (p.Arg6848Cys) rs201472187
NM_182914.2(SYNE2):c.20547C>T (p.Ser6849=) rs371041220
NM_182914.2(SYNE2):c.20562G>T (p.Val6854=) rs755188684
NM_182914.2(SYNE2):c.20590C>T (p.Leu6864Phe) rs201554266
NM_182914.2(SYNE2):c.20596C>T (p.Leu6866=) rs141474837
NM_182914.2(SYNE2):c.20641G>C (p.Asp6881His) rs1345320685
NM_182914.2(SYNE2):c.20654C>G (p.Thr6885Ser) rs1596340525
NM_182914.2(SYNE2):c.20702C>A (p.Thr6901Asn) rs760936547
NM_182914.2(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182914.2(SYNE2):c.20721A>G (p.Thr6907=) rs886050601
NM_182914.2(SYNE2):c.2190A>G (p.Thr730=) rs374751877
NM_182914.2(SYNE2):c.2194C>A (p.Gln732Lys) rs758897129
NM_182914.2(SYNE2):c.2260A>C (p.Lys754Gln) rs201892861
NM_182914.2(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405
NM_182914.2(SYNE2):c.2279A>G (p.Asp760Gly) rs1594681467
NM_182914.2(SYNE2):c.22C>T (p.Pro8Ser) rs2275017
NM_182914.2(SYNE2):c.2347C>T (p.Leu783Phe) rs766796829
NM_182914.2(SYNE2):c.238C>T (p.Pro80Ser) rs1595771772
NM_182914.2(SYNE2):c.2402A>G (p.Gln801Arg) rs200848069
NM_182914.2(SYNE2):c.2409C>A (p.Ser803=) rs17101525
NM_182914.2(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492
NM_182914.2(SYNE2):c.2487A>G (p.Lys829=) rs751368683
NM_182914.2(SYNE2):c.2560C>G (p.Gln854Glu) rs34449017
NM_182914.2(SYNE2):c.2646+6A>T rs768967034
NM_182914.2(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852
NM_182914.2(SYNE2):c.2803T>C (p.Leu935=) rs114718315
NM_182914.2(SYNE2):c.280A>G (p.Ile94Val) rs146748294
NM_182914.2(SYNE2):c.2827G>T (p.Asp943Tyr) rs543556397
NM_182914.2(SYNE2):c.2839G>A (p.Gly947Arg) rs1157242509
NM_182914.2(SYNE2):c.2903G>A (p.Arg968His) rs200356303
NM_182914.2(SYNE2):c.2934A>G (p.Glu978=) rs34001379
NM_182914.2(SYNE2):c.2940+6A>G rs371534076
NM_182914.2(SYNE2):c.2960G>A (p.Gly987Asp) rs769535616
NM_182914.2(SYNE2):c.303A>G (p.Leu101=) rs371277498
NM_182914.2(SYNE2):c.3054A>C (p.Leu1018=) rs751740731
NM_182914.2(SYNE2):c.3102C>T (p.Ser1034=) rs886050580
NM_182914.2(SYNE2):c.3103G>A (p.Glu1035Lys) rs770698687
NM_182914.2(SYNE2):c.3141G>A (p.Thr1047=) rs372376442
NM_182914.2(SYNE2):c.3177T>G (p.Asn1059Lys) rs1594758891
NM_182914.2(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801
NM_182914.2(SYNE2):c.3267T>G (p.Phe1089Leu) rs201858632
NM_182914.2(SYNE2):c.3275C>T (p.Ala1092Val) rs1555421275
NM_182914.2(SYNE2):c.3311T>C (p.Met1104Thr) rs778313924
NM_182914.2(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227
NM_182914.2(SYNE2):c.3408G>T (p.Arg1136Ser) rs762347655
NM_182914.2(SYNE2):c.3452G>A (p.Cys1151Tyr) rs1555421819
NM_182914.2(SYNE2):c.3506G>A (p.Arg1169His) rs200437377
NM_182914.2(SYNE2):c.353A>T (p.Asp118Val) rs199860789
NM_182914.2(SYNE2):c.3550G>A (p.Val1184Met) rs377084463
NM_182914.2(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697
NM_182914.2(SYNE2):c.3567G>T (p.Lys1189Asn) rs776221033
NM_182914.2(SYNE2):c.358A>C (p.Asn120His) rs1595773305
NM_182914.2(SYNE2):c.3639-12C>T rs750618626
NM_182914.2(SYNE2):c.3639-6A>G rs369878032
NM_182914.2(SYNE2):c.3715C>G (p.Leu1239Val) rs886050581
NM_182914.2(SYNE2):c.3739C>A (p.Gln1247Lys) rs1594783691
NM_182914.2(SYNE2):c.3767G>A (p.Arg1256His) rs183356628
NM_182914.2(SYNE2):c.3773A>G (p.Tyr1258Cys) rs370541277
NM_182914.2(SYNE2):c.3797A>G (p.Asp1266Gly) rs752582359
NM_182914.2(SYNE2):c.3804A>G (p.Ile1268Met) rs753563194
NM_182914.2(SYNE2):c.3806C>T (p.Ala1269Val) rs757090585
NM_182914.2(SYNE2):c.3830G>A (p.Arg1277His) rs367549881
NM_182914.2(SYNE2):c.3885C>G (p.His1295Gln) rs570341792
NM_182914.2(SYNE2):c.3885C>T (p.His1295=) rs570341792
NM_182914.2(SYNE2):c.3990G>A (p.Ala1330=) rs374980509
NM_182914.2(SYNE2):c.399G>C (p.Leu133=) rs33976862
NM_182914.2(SYNE2):c.4013C>T (p.Ser1338Phe) rs1226719188
NM_182914.2(SYNE2):c.4070C>T (p.Thr1357Met) rs769845003
NM_182914.2(SYNE2):c.4071G>A (p.Thr1357=) rs371506443
NM_182914.2(SYNE2):c.4126C>T (p.His1376Tyr) rs765665332
NM_182914.2(SYNE2):c.4177C>T (p.Arg1393Trp) rs17751301
NM_182914.2(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282
NM_182914.2(SYNE2):c.418C>G (p.Leu140Val) rs761503203
NM_182914.2(SYNE2):c.4190C>A (p.Thr1397Asn) rs760136466
NM_182914.2(SYNE2):c.4252G>C (p.Val1418Leu) rs770898049
NM_182914.2(SYNE2):c.4285C>T (p.Leu1429=) rs761375106
NM_182914.2(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158
NM_182914.2(SYNE2):c.430C>G (p.Leu144Val) rs142000273
NM_182914.2(SYNE2):c.4351A>G (p.Ser1451Gly) rs535438406
NM_182914.2(SYNE2):c.4418T>G (p.Leu1473Arg) rs772693998
NM_182914.2(SYNE2):c.4423A>G (p.Lys1475Glu) rs761080544
NM_182914.2(SYNE2):c.4521A>G (p.Gln1507=) rs187183308
NM_182914.2(SYNE2):c.4536A>G (p.Thr1512=) rs11158524
NM_182914.2(SYNE2):c.4578-4T>A rs7146588
NM_182914.2(SYNE2):c.4587A>G (p.Gln1529=) rs774411048
NM_182914.2(SYNE2):c.4614A>G (p.Lys1538=) rs572672283
NM_182914.2(SYNE2):c.4640T>C (p.Leu1547Ser) rs1594836938
NM_182914.2(SYNE2):c.4697G>A (p.Gly1566Glu) rs906789317
NM_182914.2(SYNE2):c.4704G>C (p.Glu1568Asp) rs112802347
NM_182914.2(SYNE2):c.4738G>T (p.Val1580Phe) rs190340029
NM_182914.2(SYNE2):c.475G>T (p.Val159Phe) rs1323596481
NM_182914.2(SYNE2):c.4785C>A (p.Asn1595Lys) rs199704293
NM_182914.2(SYNE2):c.478G>A (p.Asp160Asn) rs1566887934
NM_182914.2(SYNE2):c.4842C>T (p.Pro1614=) rs148564084
NM_182914.2(SYNE2):c.4846T>C (p.Phe1616Leu) rs764521226
NM_182914.2(SYNE2):c.4849G>A (p.Glu1617Lys) rs780380973
NM_182914.2(SYNE2):c.4861A>C (p.Asn1621His) rs746284520
NM_182914.2(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863
NM_182914.2(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942
NM_182914.2(SYNE2):c.4924G>A (p.Gly1642Ser) rs1555431607
NM_182914.2(SYNE2):c.4931C>T (p.Ala1644Val) rs771776215
NM_182914.2(SYNE2):c.4933C>G (p.Leu1645Val) rs1555431632
NM_182914.2(SYNE2):c.4994C>T (p.Ala1665Val) rs200143024
NM_182914.2(SYNE2):c.5020T>C (p.Leu1674=) rs201666704
NM_182914.2(SYNE2):c.5098G>A (p.Val1700Met) rs372345929
NM_182914.2(SYNE2):c.5100G>A (p.Val1700=) rs376691167
NM_182914.2(SYNE2):c.5155A>G (p.Met1719Val) rs189676187
NM_182914.2(SYNE2):c.5156T>C (p.Met1719Thr) rs73277546
NM_182914.2(SYNE2):c.5159A>C (p.Glu1720Ala) rs1013597826
NM_182914.2(SYNE2):c.5174A>G (p.Asn1725Ser) rs200554446
NM_182914.2(SYNE2):c.5187T>A (p.His1729Gln) rs116597541
NM_182914.2(SYNE2):c.521A>G (p.Lys174Arg) rs139238702
NM_182914.2(SYNE2):c.5253G>A (p.Arg1751=) rs375022006
NM_182914.2(SYNE2):c.5284G>A (p.Gly1762Arg) rs754809587
NM_182914.2(SYNE2):c.5395T>C (p.Leu1799=) rs186427714
NM_182914.2(SYNE2):c.5451A>G (p.Gln1817=) rs116369229
NM_182914.2(SYNE2):c.5517A>T (p.Leu1839Phe) rs35883188
NM_182914.2(SYNE2):c.5529A>G (p.Gln1843=) rs757852900
NM_182914.2(SYNE2):c.5534A>G (p.Lys1845Arg) rs76634907
NM_182914.2(SYNE2):c.5608A>C (p.Ser1870Arg) rs368227332
NM_182914.2(SYNE2):c.5637+12A>G rs150233714
NM_182914.2(SYNE2):c.5637+13T>A rs138898760
NM_182914.2(SYNE2):c.5646G>T (p.Leu1882Phe) rs747913558
NM_182914.2(SYNE2):c.5696A>G (p.Lys1899Arg) rs886050582
NM_182914.2(SYNE2):c.5710C>T (p.His1904Tyr) rs762428121
NM_182914.2(SYNE2):c.5726A>G (p.His1909Arg) rs750862490
NM_182914.2(SYNE2):c.5737C>T (p.Leu1913Phe) rs780436538
NM_182914.2(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702
NM_182914.2(SYNE2):c.58G>T (p.Asp20Tyr) rs770930910
NM_182914.2(SYNE2):c.5906T>C (p.Met1969Thr) rs4902264
NM_182914.2(SYNE2):c.5915C>T (p.Pro1972Leu) rs113146258
NM_182914.2(SYNE2):c.593A>G (p.Tyr198Cys) rs377436719
NM_182914.2(SYNE2):c.5987T>C (p.Leu1996Ser) rs780750526
NM_182914.2(SYNE2):c.605A>G (p.Asn202Ser) rs746518493
NM_182914.2(SYNE2):c.6071C>T (p.Thr2024Ile) rs201401811
NM_182914.2(SYNE2):c.6096C>T (p.Ile2032=) rs374097374
NM_182914.2(SYNE2):c.6119C>T (p.Pro2040Leu) rs1277532834
NM_182914.2(SYNE2):c.6247A>T (p.Ile2083Phe) rs200739844
NM_182914.2(SYNE2):c.6321C>T (p.Ser2107=) rs143410137
NM_182914.2(SYNE2):c.6330G>A (p.Pro2110=) rs779101206
NM_182914.2(SYNE2):c.6404+5A>G rs571176673
NM_182914.2(SYNE2):c.6481C>T (p.Leu2161=) rs10151127
NM_182914.2(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242
NM_182914.2(SYNE2):c.6579A>T (p.Gln2193His) rs373963217
NM_182914.2(SYNE2):c.6588A>G (p.Thr2196=) rs367788980
NM_182914.2(SYNE2):c.6599A>G (p.Lys2200Arg) rs551801857
NM_182914.2(SYNE2):c.6604T>A (p.Leu2202Ile) rs571868188
NM_182914.2(SYNE2):c.6664C>G (p.Pro2222Ala) rs201838350
NM_182914.2(SYNE2):c.6685C>G (p.Leu2229Val) rs375543783
NM_182914.2(SYNE2):c.6690C>T (p.His2230=) rs138272705
NM_182914.2(SYNE2):c.6714+3G>A rs142902034
NM_182914.2(SYNE2):c.6714+6G>T rs191541575
NM_182914.2(SYNE2):c.671G>A (p.Arg224Gln) rs764128650
NM_182914.2(SYNE2):c.6736G>A (p.Gly2246Ser) rs774737023
NM_182914.2(SYNE2):c.6746G>A (p.Arg2249Gln) rs764036360
NM_182914.2(SYNE2):c.6764A>G (p.Gln2255Arg) rs750058499
NM_182914.2(SYNE2):c.6772G>A (p.Val2258Ile) rs200336916
NM_182914.2(SYNE2):c.6793T>C (p.Leu2265=) rs746513307
NM_182914.2(SYNE2):c.6817G>C (p.Val2273Leu) rs1274502678
NM_182914.2(SYNE2):c.6851C>T (p.Ala2284Val) rs4027402
NM_182914.2(SYNE2):c.6865T>C (p.Leu2289=) rs11850509
NM_182914.2(SYNE2):c.6880-4G>A rs776756586
NM_182914.2(SYNE2):c.6880-5C>T rs187173455
NM_182914.2(SYNE2):c.6945C>T (p.Ser2315=) rs564454573
NM_182914.2(SYNE2):c.7010G>A (p.Cys2337Tyr) rs762996751
NM_182914.2(SYNE2):c.7028A>G (p.Glu2343Gly) rs770601583
NM_182914.2(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768
NM_182914.2(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465
NM_182914.2(SYNE2):c.7076G>A (p.Ser2359Asn) rs4027404
NM_182914.2(SYNE2):c.7093C>T (p.Arg2365Cys) rs781422804
NM_182914.2(SYNE2):c.7096T>C (p.Ser2366Pro) rs35444312
NM_182914.2(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869
NM_182914.2(SYNE2):c.7128A>G (p.Pro2376=) rs117423703
NM_182914.2(SYNE2):c.7139A>C (p.Lys2380Thr) rs1157953928
NM_182914.2(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904
NM_182914.2(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135
NM_182914.2(SYNE2):c.7183G>A (p.Ala2395Thr) rs4027405
NM_182914.2(SYNE2):c.7222-9G>A rs373161954
NM_182914.2(SYNE2):c.7223A>T (p.Asp2408Val) rs550374867
NM_182914.2(SYNE2):c.7254A>C (p.Gln2418His) rs984046422
NM_182914.2(SYNE2):c.7297G>A (p.Glu2433Lys) rs376116911
NM_182914.2(SYNE2):c.7301G>A (p.Arg2434Gln) rs202200597
NM_182914.2(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647
NM_182914.2(SYNE2):c.7321A>G (p.Asn2441Asp) rs754057512
NM_182914.2(SYNE2):c.7437A>T (p.Glu2479Asp) rs375700055
NM_182914.2(SYNE2):c.7467G>C (p.Leu2489Phe) rs143031135
NM_182914.2(SYNE2):c.7469T>G (p.Val2490Gly) rs34393543
NM_182914.2(SYNE2):c.7483G>A (p.Gly2495Arg) rs201036334
NM_182914.2(SYNE2):c.7569A>T (p.Arg2523Ser) rs763858839
NM_182914.2(SYNE2):c.7606A>G (p.Met2536Val) rs201406395
NM_182914.2(SYNE2):c.7617G>A (p.Leu2539=) rs200359168
NM_182914.2(SYNE2):c.7643+6T>C rs144143344
NM_182914.2(SYNE2):c.7643+9A>G rs115809466
NM_182914.2(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107
NM_182914.2(SYNE2):c.7694C>T (p.Ala2565Val) rs200447122
NM_182914.2(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352
NM_182914.2(SYNE2):c.7720T>A (p.Leu2574Ile) rs759148677
NM_182914.2(SYNE2):c.7762G>A (p.Val2588Met) rs373690979
NM_182914.2(SYNE2):c.7768G>C (p.Asp2590His) rs1555452706
NM_182914.2(SYNE2):c.7872A>C (p.Glu2624Asp) rs140325055
NM_182914.2(SYNE2):c.7889C>A (p.Thr2630Asn) rs1595152259
NM_182914.2(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637
NM_182914.2(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218
NM_182914.2(SYNE2):c.8003T>G (p.Leu2668Trp) rs143558316
NM_182914.2(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613
NM_182914.2(SYNE2):c.802G>A (p.Asp268Asn) rs1555400535
NM_182914.2(SYNE2):c.8041G>A (p.Val2681Ile) rs150946074
NM_182914.2(SYNE2):c.8069T>C (p.Met2690Thr) rs560226719
NM_182914.2(SYNE2):c.8148G>T (p.Leu2716Phe) rs529012269
NM_182914.2(SYNE2):c.8232G>T (p.Lys2744Asn) rs886050583
NM_182914.2(SYNE2):c.8249T>G (p.Leu2750Arg) rs750371615
NM_182914.2(SYNE2):c.8272C>T (p.Pro2758Ser) rs771389608
NM_182914.2(SYNE2):c.8348A>T (p.Glu2783Val) rs773304417
NM_182914.2(SYNE2):c.8404A>G (p.Ser2802Gly) rs1890908
NM_182914.2(SYNE2):c.8417A>G (p.Asn2806Ser) rs765407182
NM_182914.2(SYNE2):c.8422C>T (p.Leu2808=) rs35960129
NM_182914.2(SYNE2):c.844C>T (p.Leu282=) rs1595894315
NM_182914.2(SYNE2):c.8558G>A (p.Ser2853Asn) rs763671728
NM_182914.2(SYNE2):c.8579G>C (p.Arg2860Thr) rs752110658
NM_182914.2(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894
NM_182914.2(SYNE2):c.860A>T (p.Asp287Val) rs1595894380
NM_182914.2(SYNE2):c.865C>T (p.Pro289Ser) rs1459614876
NM_182914.2(SYNE2):c.8691G>C (p.Glu2897Asp) rs758754933
NM_182914.2(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822
NM_182914.2(SYNE2):c.8786G>A (p.Arg2929Lys) rs1177149020
NM_182914.2(SYNE2):c.8824A>G (p.Ile2942Val) rs3829767
NM_182914.2(SYNE2):c.8849A>C (p.Glu2950Ala) rs540706990
NM_182914.2(SYNE2):c.8862G>A (p.Ala2954=) rs373930498
NM_182914.2(SYNE2):c.8862G>T (p.Ala2954=) rs373930498
NM_182914.2(SYNE2):c.8905C>G (p.Leu2969Val) rs773914389
NM_182914.2(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650
NM_182914.2(SYNE2):c.892A>C (p.Lys298Gln) rs866911879
NM_182914.2(SYNE2):c.8931T>C (p.Val2977=) rs1555453730
NM_182914.2(SYNE2):c.8964C>T (p.Leu2988=) rs374107455
NM_182914.2(SYNE2):c.8991G>A (p.Gln2997=) rs773209564
NM_182914.2(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845
NM_182914.2(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668
NM_182914.2(SYNE2):c.907A>G (p.Met303Val) rs377535370
NM_182914.2(SYNE2):c.9088G>A (p.Glu3030Lys) rs60466225
NM_182914.2(SYNE2):c.9140A>G (p.Lys3047Arg) rs201471505
NM_182914.2(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016
NM_182914.2(SYNE2):c.9231G>A (p.Pro3077=) rs199659722
NM_182914.2(SYNE2):c.9241C>T (p.Arg3081Trp) rs150085946
NM_182914.2(SYNE2):c.9252C>T (p.Ala3084=) rs200061977
NM_182914.2(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326
NM_182914.2(SYNE2):c.9347A>G (p.Lys3116Arg) rs138689053
NM_182914.2(SYNE2):c.9366A>G (p.Gln3122=) rs369128922
NM_182914.2(SYNE2):c.9389A>G (p.Asn3130Ser) rs11847087
NM_182914.2(SYNE2):c.9396G>A (p.Lys3132=) rs566182360
NM_182914.2(SYNE2):c.9396G>C (p.Lys3132Asn) rs566182360
NM_182914.2(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197
NM_182914.2(SYNE2):c.9502A>G (p.Ile3168Val) rs193035848
NM_182914.2(SYNE2):c.9519G>A (p.Gln3173=) rs779254549
NM_182914.2(SYNE2):c.9610T>G (p.Cys3204Gly) rs531451940
NM_182914.2(SYNE2):c.9633T>C (p.Ala3211=) rs1335670113
NM_182914.2(SYNE2):c.9691C>T (p.Arg3231Cys) rs546650178
NM_182914.2(SYNE2):c.9700G>C (p.Glu3234Gln) rs372597797
NM_182914.2(SYNE2):c.9717G>T (p.Gln3239His) rs1428818552
NM_182914.2(SYNE2):c.9745-9A>G rs778028287
NM_182914.2(SYNE2):c.9757G>C (p.Asp3253His) rs8010911
NM_182914.2(SYNE2):c.9812G>A (p.Ser3271Asn) rs756481940
NM_182914.2(SYNE2):c.9813C>T (p.Ser3271=) rs764422613
NM_182914.2(SYNE2):c.9873A>G (p.Glu3291=) rs747745836
NM_182914.2(SYNE2):c.9893G>A (p.Arg3298Gln) rs770399154
NM_182914.2(SYNE2):c.990+10A>G rs145924910
NM_182914.2(SYNE2):c.9925_9926inv (p.His3309Cys)
NM_182914.2(SYNE2):c.9926A>G (p.His3309Arg) rs8010699
NM_182914.2(SYNE2):c.9926A>T (p.His3309Leu) rs8010699
NM_182914.2(SYNE2):c.9943G>A (p.Glu3315Lys) rs372982837
NM_182914.2(SYNE2):c.9974C>T (p.Ala3325Val) rs377173620
NM_182914.3(SYNE2):c.*300G>A
NM_182914.3(SYNE2):c.*372T>C
NM_182914.3(SYNE2):c.*461C>T
NM_182914.3(SYNE2):c.*521A>G
NM_182914.3(SYNE2):c.*574A>G
NM_182914.3(SYNE2):c.*59G>A
NM_182914.3(SYNE2):c.*807G>A
NM_182914.3(SYNE2):c.*819G>A
NM_182914.3(SYNE2):c.*820T>G
NM_182914.3(SYNE2):c.*824G>A
NM_182914.3(SYNE2):c.-149G>A
NM_182914.3(SYNE2):c.-52G>A
NM_182914.3(SYNE2):c.10060G>A (p.Ala3354Thr)
NM_182914.3(SYNE2):c.10275A>C (p.Arg3425Ser)
NM_182914.3(SYNE2):c.10378T>C (p.Trp3460Arg)
NM_182914.3(SYNE2):c.10431+6T>A
NM_182914.3(SYNE2):c.10631G>T (p.Ser3544Ile)
NM_182914.3(SYNE2):c.10669A>T (p.Ile3557Phe)
NM_182914.3(SYNE2):c.10721A>G (p.Asn3574Ser)
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met)
NM_182914.3(SYNE2):c.10802A>G (p.Gln3601Arg)
NM_182914.3(SYNE2):c.10864G>C (p.Glu3622Gln)
NM_182914.3(SYNE2):c.10990T>C (p.Cys3664Arg)
NM_182914.3(SYNE2):c.11023-14T>C
NM_182914.3(SYNE2):c.1105G>A (p.Ala369Thr)
NM_182914.3(SYNE2):c.11468A>G (p.His3823Arg)
NM_182914.3(SYNE2):c.114G>A (p.Thr38=)
NM_182914.3(SYNE2):c.11652G>T (p.Gln3884His)
NM_182914.3(SYNE2):c.11956G>A (p.Glu3986Lys)
NM_182914.3(SYNE2):c.11G>A (p.Ser4Asn)
NM_182914.3(SYNE2):c.12066A>G (p.Glu4022=)
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182914.3(SYNE2):c.12125T>C (p.Met4042Thr)
NM_182914.3(SYNE2):c.12253G>T (p.Ala4085Ser)
NM_182914.3(SYNE2):c.12314G>A (p.Arg4105Lys)
NM_182914.3(SYNE2):c.12368C>G (p.Ser4123Cys)
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn)
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)
NM_182914.3(SYNE2):c.12510A>G (p.Ile4170Met)
NM_182914.3(SYNE2):c.12547C>T (p.Pro4183Ser)
NM_182914.3(SYNE2):c.12767A>G (p.Asn4256Ser)
NM_182914.3(SYNE2):c.13159-3C>T
NM_182914.3(SYNE2):c.13371T>G (p.His4457Gln)
NM_182914.3(SYNE2):c.13422+6T>C
NM_182914.3(SYNE2):c.13534G>A (p.Ala4512Thr)
NM_182914.3(SYNE2):c.13612C>T (p.Leu4538=)
NM_182914.3(SYNE2):c.13622G>A (p.Ser4541Asn)
NM_182914.3(SYNE2):c.13630C>T (p.Leu4544Phe)
NM_182914.3(SYNE2):c.13814A>C (p.Glu4605Ala)
NM_182914.3(SYNE2):c.13918-13A>G
NM_182914.3(SYNE2):c.14020-15T>C
NM_182914.3(SYNE2):c.14252T>C (p.Val4751Ala)
NM_182914.3(SYNE2):c.14298C>G (p.Thr4766=)
NM_182914.3(SYNE2):c.14378T>C (p.Ile4793Thr)
NM_182914.3(SYNE2):c.14527T>C (p.Phe4843Leu)
NM_182914.3(SYNE2):c.14560C>G (p.Leu4854Val)
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met)
NM_182914.3(SYNE2):c.14676C>A (p.His4892Gln)
NM_182914.3(SYNE2):c.14676C>T (p.His4892=)
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu)
NM_182914.3(SYNE2):c.14908T>C (p.Trp4970Arg)
NM_182914.3(SYNE2):c.14984C>T (p.Ser4995Leu)
NM_182914.3(SYNE2):c.15092C>A (p.Ala5031Glu)
NM_182914.3(SYNE2):c.15159+1G>T
NM_182914.3(SYNE2):c.15189A>C (p.Lys5063Asn)
NM_182914.3(SYNE2):c.15233A>C (p.Gln5078Pro)
NM_182914.3(SYNE2):c.15243T>G (p.Asp5081Glu)
NM_182914.3(SYNE2):c.15253G>A (p.Val5085Met)
NM_182914.3(SYNE2):c.15290_15292TTC[1] (p.Leu5098del) rs368230785
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met)
NM_182914.3(SYNE2):c.15441G>T (p.Met5147Ile)
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)
NM_182914.3(SYNE2):c.15484-3T>C
NM_182914.3(SYNE2):c.15659C>G (p.Ala5220Gly)
NM_182914.3(SYNE2):c.15788C>T (p.Thr5263Ile)
NM_182914.3(SYNE2):c.15869A>G (p.Asn5290Ser)
NM_182914.3(SYNE2):c.16024G>A (p.Gly5342Ser)
NM_182914.3(SYNE2):c.16094+4T>A
NM_182914.3(SYNE2):c.16524T>C (p.Ser5508=)
NM_182914.3(SYNE2):c.16753C>T (p.Arg5585Cys)
NM_182914.3(SYNE2):c.16760+6A>G
NM_182914.3(SYNE2):c.16761-10A>G
NM_182914.3(SYNE2):c.16845A>G (p.Ala5615=)
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=)
NM_182914.3(SYNE2):c.16901A>G (p.Tyr5634Cys)
NM_182914.3(SYNE2):c.16905+4A>C
NM_182914.3(SYNE2):c.16985C>T (p.Thr5662Ile)
NM_182914.3(SYNE2):c.17115C>T (p.Phe5705=)
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His)
NM_182914.3(SYNE2):c.17328T>C (p.Thr5776=)
NM_182914.3(SYNE2):c.17672T>C (p.Ile5891Thr)
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=)
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=)
NM_182914.3(SYNE2):c.17908A>T (p.Lys5970Ter)
NM_182914.3(SYNE2):c.18015T>C (p.His6005=)
NM_182914.3(SYNE2):c.18312_18316del (p.Ser6105fs)
NM_182914.3(SYNE2):c.18566G>A (p.Arg6189Gln)
NM_182914.3(SYNE2):c.18631A>G (p.Thr6211Ala)
NM_182914.3(SYNE2):c.18660C>T (p.His6220=)
NM_182914.3(SYNE2):c.18691A>G (p.Arg6231Gly)
NM_182914.3(SYNE2):c.18851G>A (p.Arg6284His)
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln)
NM_182914.3(SYNE2):c.19333+7G>A
NM_182914.3(SYNE2):c.19394C>T (p.Ala6465Val)
NM_182914.3(SYNE2):c.19402+10C>T
NM_182914.3(SYNE2):c.19543-8C>A
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr)
NM_182914.3(SYNE2):c.19861-13C>G
NM_182914.3(SYNE2):c.1996C>A (p.Gln666Lys)
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys)
NM_182914.3(SYNE2):c.19985G>T (p.Ser6662Ile)
NM_182914.3(SYNE2):c.20038C>G (p.Arg6680Gly)
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln)
NM_182914.3(SYNE2):c.20068C>T (p.His6690Tyr)
NM_182914.3(SYNE2):c.20102C>T (p.Ala6701Val)
NM_182914.3(SYNE2):c.20190+14C>T
NM_182914.3(SYNE2):c.20296_20298GAA[1] (p.Glu6767del)
NM_182914.3(SYNE2):c.20381A>G (p.Gln6794Arg)
NM_182914.3(SYNE2):c.20551C>T (p.Leu6851Phe)
NM_182914.3(SYNE2):c.20595_20612del (p.Leu6866_Leu6871del)
NM_182914.3(SYNE2):c.20637_20639AGA[1] (p.Glu6880del) rs781275793
NM_182914.3(SYNE2):c.2300A>T (p.Glu767Val)
NM_182914.3(SYNE2):c.2314-9T>C
NM_182914.3(SYNE2):c.2493T>G (p.Ile831Met)
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys)
NM_182914.3(SYNE2):c.2744T>C (p.Leu915Ser)
NM_182914.3(SYNE2):c.2781+4A>G
NM_182914.3(SYNE2):c.2781+5G>A
NM_182914.3(SYNE2):c.287A>G (p.His96Arg)
NM_182914.3(SYNE2):c.28G>C (p.Glu10Gln)
NM_182914.3(SYNE2):c.2900T>C (p.Ile967Thr)
NM_182914.3(SYNE2):c.3272T>C (p.Leu1091Pro)
NM_182914.3(SYNE2):c.3287G>A (p.Arg1096Lys)
NM_182914.3(SYNE2):c.3325A>G (p.Ser1109Gly)
NM_182914.3(SYNE2):c.3445A>C (p.Ser1149Arg)
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp)
NM_182914.3(SYNE2):c.3696_3698TCT[1] (p.Leu1234del)
NM_182914.3(SYNE2):c.3788A>C (p.Asn1263Thr)
NM_182914.3(SYNE2):c.3829C>T (p.Arg1277Cys)
NM_182914.3(SYNE2):c.3883C>A (p.His1295Asn)
NM_182914.3(SYNE2):c.4222A>G (p.Ile1408Val)
NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro)
NM_182914.3(SYNE2):c.4235A>G (p.Glu1412Gly)
NM_182914.3(SYNE2):c.424C>G (p.Gln142Glu)
NM_182914.3(SYNE2):c.4309A>G (p.Asn1437Asp)
NM_182914.3(SYNE2):c.4375A>C (p.Thr1459Pro)
NM_182914.3(SYNE2):c.4398-11T>A
NM_182914.3(SYNE2):c.4474A>G (p.Asn1492Asp)
NM_182914.3(SYNE2):c.4513G>A (p.Val1505Met)
NM_182914.3(SYNE2):c.4523A>G (p.Gln1508Arg)
NM_182914.3(SYNE2):c.4585C>T (p.Gln1529Ter)
NM_182914.3(SYNE2):c.4728+9A>G
NM_182914.3(SYNE2):c.5068G>A (p.Glu1690Lys)
NM_182914.3(SYNE2):c.5084A>G (p.Glu1695Gly)
NM_182914.3(SYNE2):c.5423C>G (p.Thr1808Ser)
NM_182914.3(SYNE2):c.5728G>A (p.Val1910Met)
NM_182914.3(SYNE2):c.5796G>T (p.Gln1932His)
NM_182914.3(SYNE2):c.5801G>A (p.Arg1934Gln)
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=)
NM_182914.3(SYNE2):c.5895A>G (p.Lys1965=)
NM_182914.3(SYNE2):c.6011G>A (p.Gly2004Glu)
NM_182914.3(SYNE2):c.6058G>C (p.Asp2020His)
NM_182914.3(SYNE2):c.6172A>G (p.Lys2058Glu)
NM_182914.3(SYNE2):c.6302T>C (p.Met2101Thr)
NM_182914.3(SYNE2):c.6307C>G (p.Gln2103Glu)
NM_182914.3(SYNE2):c.6329C>T (p.Pro2110Leu)
NM_182914.3(SYNE2):c.6470T>C (p.Met2157Thr)
NM_182914.3(SYNE2):c.6742G>A (p.Val2248Ile)
NM_182914.3(SYNE2):c.6907G>A (p.Asp2303Asn)
NM_182914.3(SYNE2):c.718G>A (p.Asp240Asn)
NM_182914.3(SYNE2):c.728G>T (p.Arg243Ile)
NM_182914.3(SYNE2):c.7487A>G (p.Tyr2496Cys)
NM_182914.3(SYNE2):c.787+15T>G
NM_182914.3(SYNE2):c.7877A>G (p.Asp2626Gly)
NM_182914.3(SYNE2):c.79+3A>T
NM_182914.3(SYNE2):c.79+5T>A
NM_182914.3(SYNE2):c.7974A>C (p.Glu2658Asp)
NM_182914.3(SYNE2):c.8013C>G (p.Asp2671Glu)
NM_182914.3(SYNE2):c.8171A>T (p.Glu2724Val)
NM_182914.3(SYNE2):c.8351C>T (p.Ser2784Leu)
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe)
NM_182914.3(SYNE2):c.8567T>G (p.Leu2856Arg)
NM_182914.3(SYNE2):c.8775C>T (p.Asn2925=)
NM_182914.3(SYNE2):c.888+11A>G
NM_182914.3(SYNE2):c.888+13A>G
NM_182914.3(SYNE2):c.8890C>T (p.Arg2964Cys)
NM_182914.3(SYNE2):c.9149C>G (p.Ala3050Gly)
NM_182914.3(SYNE2):c.9345C>G (p.Phe3115Leu)
NM_182914.3(SYNE2):c.9618T>C (p.Ile3206=)
NM_182914.3(SYNE2):c.9733G>T (p.Asp3245Tyr)
NM_182914.3(SYNE2):c.9999A>T (p.Leu3333Phe)
NM_182961.4(SYNE1):c.*101C>T rs571719631
NM_182961.4(SYNE1):c.*103C>A rs2250122
NM_182961.4(SYNE1):c.*138A>G
NM_182961.4(SYNE1):c.*166G>A
NM_182961.4(SYNE1):c.*181C>T
NM_182961.4(SYNE1):c.*182G>A rs12681
NM_182961.4(SYNE1):c.*186G>A
NM_182961.4(SYNE1):c.*191A>G rs567194577
NM_182961.4(SYNE1):c.*295T>C rs886061190
NM_182961.4(SYNE1):c.*368T>C
NM_182961.4(SYNE1):c.*433A>G rs886061189
NM_182961.4(SYNE1):c.*449T>A
NM_182961.4(SYNE1):c.*449T>C rs886061188
NM_182961.4(SYNE1):c.*515T>C rs886061187
NM_182961.4(SYNE1):c.*583A>G rs3756933
NM_182961.4(SYNE1):c.*95C>T rs139397787
NM_182961.4(SYNE1):c.-223-10T>C rs564226533
NM_182961.4(SYNE1):c.-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.10060G>C (p.Glu3354Gln) rs773410652
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu) rs748499952
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys) rs774710219
NM_182961.4(SYNE1):c.10105A>G (p.Met3369Val) rs199668467
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val) rs748579024
NM_182961.4(SYNE1):c.10145+12T>C rs112401775
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827
NM_182961.4(SYNE1):c.10181A>T (p.Tyr3394Phe) rs754599705
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=) rs145287138
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839
NM_182961.4(SYNE1):c.10289G>A (p.Gly3430Glu)
NM_182961.4(SYNE1):c.1034A>C (p.Gln345Pro) rs200003096
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.1047+4T>G 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.10557A>T (p.Ser3519=) rs73784326
NM_182961.4(SYNE1):c.10596G>A (p.Leu3532=)
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 rs1590998146
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.10727G>A (p.Arg3576Gln) rs1060499769
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=) rs201715967
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser) rs148212715
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.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.10800G>A (p.Leu3600=) rs114858512
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.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) rs758415122
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+6C>A
NM_182961.4(SYNE1):c.11253+9G>A rs368012172
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg) rs780693119
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.11413C>T (p.Arg3805Trp) rs572106956
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.11477A>G (p.Lys3826Arg)
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671
NM_182961.4(SYNE1):c.11486C>T (p.Thr3829Ile) rs770523249
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.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.11706T>A (p.Asp3902Glu)
NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr)
NM_182961.4(SYNE1):c.1176G>A (p.Val392=) rs776130961
NM_182961.4(SYNE1):c.11970G>A (p.Leu3990=) rs960254266
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu) rs375752705
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518
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.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.12100G>A (p.Glu4034Lys) rs746532554
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691
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>G (p.Asp4043Gly)
NM_182961.4(SYNE1):c.12128A>T (p.Asp4043Val)
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.12170C>T (p.Pro4057Leu) rs150179494
NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs) rs1564367104
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434
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.12225+4G>A rs770448083
NM_182961.4(SYNE1):c.12226G>A (p.Val4076Ile)
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=) rs145401144
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926
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.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.12362_12363delinsGT (p.Lys4121Ser) rs386707192
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys) rs139139296
NM_182961.4(SYNE1):c.12393C>A (p.Gly4131=) rs375707429
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.1244G>A (p.Gly415Asp)
NM_182961.4(SYNE1):c.12457C>A (p.Leu4153Met)
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.12584del (p.Lys4195fs) rs886042380
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262
NM_182961.4(SYNE1):c.12609G>A (p.Glu4203=) rs186937478
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu) rs140359400
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.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.12795-12A>G rs9478314
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.12832T>C (p.Leu4278=) rs749626940
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu) rs751661906
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) rs755709525
NM_182961.4(SYNE1):c.1291G>T (p.Val431Phe) rs761198236
NM_182961.4(SYNE1):c.12953C>T (p.Thr4318Met) rs200825287
NM_182961.4(SYNE1):c.12954G>A (p.Thr4318=) rs968884551
NM_182961.4(SYNE1):c.13050G>T (p.Gln4350His) rs34464554
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.13102G>A (p.Ala4368Thr) rs201900423
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.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.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.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.13554C>T (p.Arg4518=) rs115535983
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993
NM_182961.4(SYNE1):c.13598T>C (p.Leu4533Pro)
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.13695G>A (p.Lys4565=) rs530630718
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr) rs368653411
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902
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.13786T>A (p.Ser4596Thr) rs6911096
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys) rs371375804
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=) rs184264920
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.13852C>A (p.Leu4618Ile) rs147125369
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645
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.13986G>A (p.Lys4662=) rs17082484
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785
NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr)
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.14115C>T (p.Ala4705=) rs377739292
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.14163C>T (p.Asp4721=) rs3734366
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys) rs35484093
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys) rs150062167
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.14380C>T (p.Leu4794=) rs138307449
NM_182961.4(SYNE1):c.14416G>A (p.Glu4806Lys)
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met) rs373040273
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764
NM_182961.4(SYNE1):c.14513A>G (p.His4838Arg)
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr) rs747838657
NM_182961.4(SYNE1):c.14561C>T (p.Ala4854Val)
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.1463+9A>G rs368846118
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His) rs150266354
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.14727G>A (p.Gly4909=) rs767294195
NM_182961.4(SYNE1):c.14758A>T (p.Ile4920Phe)
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) rs1023433513
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr) rs745978878
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.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.15043T>A (p.Leu5015Met) rs2306916
NM_182961.4(SYNE1):c.15072C>T (p.Asp5024=) rs772100783
NM_182961.4(SYNE1):c.15089A>G (p.Glu5030Gly) rs1563087715
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.15364A>G (p.Lys5122Glu)
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.15451G>A (p.Val5151Met) rs199996504
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys) rs187403476
NM_182961.4(SYNE1):c.15516C>T (p.Thr5172=) rs777234795
NM_182961.4(SYNE1):c.15535G>T (p.Ala5179Ser)
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=) rs774649954
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
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.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.15661A>G (p.Lys5221Glu) rs764500952
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106
NM_182961.4(SYNE1):c.15767C>G (p.Thr5256Arg)
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile)
NM_182961.4(SYNE1):c.15894C>T (p.Thr5298=) rs143416387
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.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.16021G>A (p.Glu5341Lys) rs765080592
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met) rs202105931
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=) rs192936944
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) rs35987150
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val) rs140850000
NM_182961.4(SYNE1):c.16237-10A>T rs201078255
NM_182961.4(SYNE1):c.16237-3del rs752661566
NM_182961.4(SYNE1):c.16272G>A (p.Lys5424=) rs142704460
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.16349C>T (p.Ala5450Val) rs181649865
NM_182961.4(SYNE1):c.16390-6A>G rs886043083
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.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.16831C>T (p.Arg5611Trp) rs369292604
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.16901T>C (p.Met5634Thr) rs138509817
NM_182961.4(SYNE1):c.16923G>A (p.Leu5641=) rs869025528
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser) rs145899734
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
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.17016G>T (p.Arg5672=) rs573806608
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro) rs373679435
NM_182961.4(SYNE1):c.17052G>A (p.Pro5684=) rs148994723
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.17140C>T (p.Arg5714Trp) rs202171698
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.17203-6del rs55633181
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter) rs746328978
NM_182961.4(SYNE1):c.17246A>C (p.His5749Pro)
NM_182961.4(SYNE1):c.1729+14C>T rs76417048
NM_182961.4(SYNE1):c.17326G>A (p.Ala5776Thr)
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val) rs762422242
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752
NM_182961.4(SYNE1):c.17346+7G>A rs9383985
NM_182961.4(SYNE1):c.17347-6C>T rs201692248
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln) rs754105532
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro)
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) rs918895767
NM_182961.4(SYNE1):c.17458G>C (p.Glu5820Gln)
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.17488G>C (p.Asp5830His)
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.17542-5G>A rs776747142
NM_182961.4(SYNE1):c.17542-7G>A rs199762799
NM_182961.4(SYNE1):c.17582C>A (p.Thr5861Asn)
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu) rs767844376
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)
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.17841A>G (p.Leu5947=) rs143490673
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu) rs200589166
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.17990A>G (p.Glu5997Gly) rs1554363340
NM_182961.4(SYNE1):c.18004G>A (p.Glu6002Lys) rs1589456322
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser) rs774683772
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.18090C>T (p.Ser6030=) rs146238726
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.18114G>A (p.Ala6038=) rs149923357
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.181G>A (p.Val61Ile) rs151156420
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375
NM_182961.4(SYNE1):c.18208-4A>G rs1246664941
NM_182961.4(SYNE1):c.18208G>A (p.Glu6070Lys) rs886043015
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.18480C>T (p.Asp6160=) rs142251671
NM_182961.4(SYNE1):c.18551A>G (p.His6184Arg)
NM_182961.4(SYNE1):c.18569T>A (p.Met6190Lys)
NM_182961.4(SYNE1):c.18570G>A (p.Met6190Ile) rs886044368
NM_182961.4(SYNE1):c.18574-13T>C rs148664724
NM_182961.4(SYNE1):c.18576A>G (p.Gly6192=) rs1267116175
NM_182961.4(SYNE1):c.18602A>T (p.Asp6201Val) rs375829264
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=) rs552884641
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.18628C>T (p.Pro6210Ser)
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.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.18680G>T (p.Arg6227Leu) rs778929049
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) rs910956017
NM_182961.4(SYNE1):c.18725C>A (p.Ala6242Asp)
NM_182961.4(SYNE1):c.18727G>C (p.Glu6243Gln)
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys) rs139449273
NM_182961.4(SYNE1):c.18776T>C (p.Leu6259Pro) rs886061201
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.18806G>T (p.Gly6269Val)
NM_182961.4(SYNE1):c.18813T>C (p.Ala6271=) rs368818393
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys) rs201346604
NM_182961.4(SYNE1):c.18849G>A (p.Gly6283=) rs776505129
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.18930G>T (p.Gln6310His) rs759556319
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.19015T>G (p.Tyr6339Asp) rs140567583
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) 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.19260+2T>C rs1588855714
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu) rs773315032
NM_182961.4(SYNE1):c.19311A>T (p.Lys6437Asn)
NM_182961.4(SYNE1):c.1932+9G>T
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.19481A>C (p.Lys6494Thr) rs763051329
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met) rs553508431
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.19555G>A (p.Val6519Ile)
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.1964A>G (p.Gln655Arg) rs9397509
NM_182961.4(SYNE1):c.19656C>T (p.Val6552=) rs773211579
NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter)
NM_182961.4(SYNE1):c.19689C>A (p.Leu6563=) rs372285648
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.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.1983C>T (p.Asn661=) rs149670417
NM_182961.4(SYNE1):c.19886A>C (p.Lys6629Thr)
NM_182961.4(SYNE1):c.19893+6T>C rs377413112
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu) rs376891338
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) rs35079654
NM_182961.4(SYNE1):c.20017G>T (p.Val6673Leu)
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln) rs190673256
NM_182961.4(SYNE1):c.20029G>T (p.Ala6677Ser) rs1376604930
NM_182961.4(SYNE1):c.20070G>A (p.Thr6690=) rs141263831
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831
NM_182961.4(SYNE1):c.20111A>T (p.Gln6704Leu) rs1189558235
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045
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.20288C>T (p.Ser6763Leu) rs115534729
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His) rs767684007
NM_182961.4(SYNE1):c.20362C>A (p.His6788Asn)
NM_182961.4(SYNE1):c.2037G>A (p.Leu679=) rs1593222147
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala) rs753654674
NM_182961.4(SYNE1):c.20441C>T (p.Ala6814Val) rs1562385964
NM_182961.4(SYNE1):c.20530-14G>A rs2296254
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.2065C>A (p.Arg689=) rs139480065
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile) rs769943110
NM_182961.4(SYNE1):c.20712+7A>T rs776363510
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272
NM_182961.4(SYNE1):c.20733T>C (p.Pro6911=)
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)
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.20955G>A (p.Lys6985=) rs138024258
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.21061T>C (p.Leu7021=) rs202172980
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.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.21195+12A>G rs200930593
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His) rs777618601
NM_182961.4(SYNE1):c.21294C>G (p.Ser7098Arg)
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser) rs777227521
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=) rs75469773
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu) rs766914765
NM_182961.4(SYNE1):c.21351+14C>T
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=) rs144904215
NM_182961.4(SYNE1):c.21426A>G (p.Ile7142Met)
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr) rs140962690
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys) rs757688642
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His) rs34963077
NM_182961.4(SYNE1):c.21474G>A (p.Leu7158=) rs370065996
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr) rs369355230
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338
NM_182961.4(SYNE1):c.21501A>G (p.Gln7167=)
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.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.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.21656+13T>C rs9383976
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.21758C>T (p.Ser7253Leu)
NM_182961.4(SYNE1):c.21759G>A (p.Ser7253=)
NM_182961.4(SYNE1):c.2175G>A (p.Thr725=)
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.21783A>C (p.Arg7261=) rs886061197
NM_182961.4(SYNE1):c.21798G>C (p.Leu7266Phe) rs760237153
NM_182961.4(SYNE1):c.21820A>T (p.Ile7274Phe)
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met) rs770171807
NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=) rs375826346
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.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.21989G>T (p.Ser7330Ile) rs1588081530
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr) rs1029115177
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.22035T>G (p.Thr7345=) rs750669148
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317
NM_182961.4(SYNE1):c.22044+9C>T rs774609945
NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His) rs944485518
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) rs1588067419
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.22235G>A (p.Arg7412His) rs200135486
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.22281C>A (p.Ile7427=) rs139362680
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys) rs371642308
NM_182961.4(SYNE1):c.22346+6G>T rs368678916
NM_182961.4(SYNE1):c.22347-9T>A rs535951024
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=) rs745722568
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.22452A>G (p.Ser7484=) rs36044575
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys) rs139466191
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.22492G>A (p.Glu7498Lys) rs762050668
NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala) rs774655615
NM_182961.4(SYNE1):c.22495-10T>A rs528364885
NM_182961.4(SYNE1):c.22495-17dup rs767966157
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe) rs886061196
NM_182961.4(SYNE1):c.225+5G>C rs1594697066
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277
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.22554G>A (p.Gly7518=) rs148240825
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.22617C>T (p.Leu7539=) rs111367233
NM_182961.4(SYNE1):c.22669A>T (p.Ile7557Phe)
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756
NM_182961.4(SYNE1):c.226C>G (p.Pro76Ala)
NM_182961.4(SYNE1):c.22735T>A (p.Leu7579Met)
NM_182961.4(SYNE1):c.22770C>T (p.Leu7590=) rs765032226
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.22910G>C (p.Ser7637Thr) rs201497427
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628
NM_182961.4(SYNE1):c.22941C>T (p.Leu7647=) rs747134735
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.22986A>C (p.Glu7662Asp) rs763100950
NM_182961.4(SYNE1):c.2299A>C (p.Thr767Pro) rs1350005154
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.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.23141G>A (p.Cys7714Tyr) rs886061195
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.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.23335T>G (p.Leu7779Val) rs200800604
NM_182961.4(SYNE1):c.23406A>G (p.Lys7802=) rs780485635
NM_182961.4(SYNE1):c.23461-1G>A rs1586909309
NM_182961.4(SYNE1):c.23461-6A>C rs145098375
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921
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.23666A>G (p.Gln7889Arg)
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile)
NM_182961.4(SYNE1):c.23707C>T (p.His7903Tyr) rs886042801
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223
NM_182961.4(SYNE1):c.23716T>G (p.Ser7906Ala)
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.23935C>T (p.Arg7979Trp) rs762991088
NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg) rs1586408465
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962
NM_182961.4(SYNE1):c.23978+11A>T rs754355745
NM_182961.4(SYNE1):c.23990C>T (p.Thr7997Met) rs757366114
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.24150C>T (p.His8050=) rs140259310
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=) rs185088779
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.24221C>G (p.Ser8074Ter) rs1586296730
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.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.242G>A (p.Arg81His) rs761189574
NM_182961.4(SYNE1):c.24313-8C>T rs201008999
NM_182961.4(SYNE1):c.24338T>G (p.Phe8113Cys) rs769930534
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.24354C>G (p.Asp8118Glu) rs149940427
NM_182961.4(SYNE1):c.24379A>T (p.Met8127Leu)
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.24502G>T (p.Ala8168Ser) rs17082236
NM_182961.4(SYNE1):c.24549G>A (p.Ala8183=) rs755622688
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.24660C>T (p.His8220=) rs150811468
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.24780G>A (p.Ser8260=) rs766320378
NM_182961.4(SYNE1):c.24783C>T (p.Leu8261=)
NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr) rs886043013
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.24832G>A (p.Val8278Met) rs200663180
NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln)
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.24956G>A (p.Arg8319Gln) rs148008634
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu) rs748328529
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755
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.24977-1774A>G rs2747662
NM_182961.4(SYNE1):c.24977-1777C>T rs761266231
NM_182961.4(SYNE1):c.24977-1785A>T rs372305836
NM_182961.4(SYNE1):c.24977-1786A>G rs377088951
NM_182961.4(SYNE1):c.24977-5C>T rs767722883
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.25037G>A (p.Arg8346His)
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135
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.25056C>T (p.Thr8352=) rs200678102
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.25103C>T (p.Thr8368Ile)
NM_182961.4(SYNE1):c.25119+3A>G rs1057521423
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.25159G>T (p.Val8387Leu) rs119103247
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=)
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg) rs375476506
NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=) rs758276004
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.2536C>T (p.Gln846Ter)
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.25443G>C (p.Gln8481His) rs886061191
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His) rs558046278
NM_182961.4(SYNE1):c.25508A>G (p.Asn8503Ser)
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.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.25637A>G (p.Gln8546Arg) rs529921934
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=) rs747858299
NM_182961.4(SYNE1):c.25660-11_25660-10del rs1585772300
NM_182961.4(SYNE1):c.2569-7G>A rs372744173
NM_182961.4(SYNE1):c.2569-8C>T rs376033376
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.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.26002-4A>G rs77220999
NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=) rs746159592
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.26060C>T (p.Thr8687Ile) rs35591210
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>A (p.Arg8735Gln) rs2295192
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.26209G>A (p.Gly8737Ser) rs2295191
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) rs144206837
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) rs757466963
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg)
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg) rs369192821
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe)
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) rs567376316
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=) rs370645510
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709
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>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.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.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.2995G>A (p.Glu999Lys) rs148346599
NM_182961.4(SYNE1):c.3028-4G>A rs1380560355
NM_182961.4(SYNE1):c.3046C>T (p.Pro1016Ser)
NM_182961.4(SYNE1):c.3055T>C (p.Leu1019=)
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185
NM_182961.4(SYNE1):c.309+14A>G rs368595280
NM_182961.4(SYNE1):c.3099C>T (p.Ala1033=) rs201752079
NM_182961.4(SYNE1):c.310-468G>A rs143635963
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976
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) 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.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.3387C>T (p.Tyr1129=) rs561575834
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.3481G>A (p.Gly1161Arg)
NM_182961.4(SYNE1):c.3499G>A (p.Val1167Ile) rs142734877
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala) rs555800735
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.3587C>T (p.Ser1196Phe) rs886061212
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+10T>C rs187598275
NM_182961.4(SYNE1):c.3669+4C>G rs376511242
NM_182961.4(SYNE1):c.3670-4A>G rs377058395
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.3850C>T (p.Arg1284Trp) rs140780725
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.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.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.3971T>G (p.Leu1324Arg)
NM_182961.4(SYNE1):c.3975G>A (p.Glu1325=) rs372832470
NM_182961.4(SYNE1):c.3982C>T (p.Arg1328Trp) rs1465224604
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.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.4189G>C (p.Glu1397Gln)
NM_182961.4(SYNE1):c.41T>A (p.Ile14Asn) rs202235488
NM_182961.4(SYNE1):c.4218A>C (p.Ile1406=) rs368727420
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.4377C>T (p.Ser1459=) rs146567226
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379
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.4461+15C>T
NM_182961.4(SYNE1):c.4461+6C>T
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.4499T>A (p.Ile1500Asn) rs746438011
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter) rs757744079
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.4548T>C (p.Thr1516=) rs776593228
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.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.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.4723C>T (p.Leu1575Phe) rs200424447
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.4757C>A (p.Thr1586Lys) rs77675624
NM_182961.4(SYNE1):c.4789-13G>A rs142900784
NM_182961.4(SYNE1):c.4789-3T>C
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe) rs151002514
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.4844G>C (p.Ser1615Thr)
NM_182961.4(SYNE1):c.487A>T (p.Thr163Ser) rs886061218
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=) rs886042121
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=) rs771955377
NM_182961.4(SYNE1):c.4943C>T (p.Thr1648Met) rs199797561
NM_182961.4(SYNE1):c.4975_4976+8del rs1592490234
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.5049G>T (p.Met1683Ile) rs755866233
NM_182961.4(SYNE1):c.5056T>C (p.Ser1686Pro) rs1364310674
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
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) rs202081505
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) rs540091060
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.5341A>T (p.Ile1781Phe) rs141796889
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.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.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.551T>A (p.Leu184Ter) rs1466752822
NM_182961.4(SYNE1):c.553T>C (p.Leu185=)
NM_182961.4(SYNE1):c.5622C>G (p.Leu1874=) rs1481434570
NM_182961.4(SYNE1):c.5666A>C (p.Gln1889Pro)
NM_182961.4(SYNE1):c.5675A>G (p.Glu1892Gly) rs757761843
NM_182961.4(SYNE1):c.5686A>C (p.Ser1896Arg)
NM_182961.4(SYNE1):c.5693A>C (p.Asn1898Thr) rs917922270
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.5807A>G (p.His1936Arg) rs112744561
NM_182961.4(SYNE1):c.581+7A>G
NM_182961.4(SYNE1):c.582-6A>G rs199728167
NM_182961.4(SYNE1):c.582-9A>G rs200412221
NM_182961.4(SYNE1):c.5820G>A (p.Gly1940=) rs773819434
NM_182961.4(SYNE1):c.5828A>G (p.Glu1943Gly) rs963256304
NM_182961.4(SYNE1):c.5850C>A (p.Ala1950=) rs373129942
NM_182961.4(SYNE1):c.592A>G (p.Ile198Val) rs746384499
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.6093C>T (p.His2031=) rs150072383
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn)
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265
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.6339T>C (p.Thr2113=) rs141671123
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys) rs144435836
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284
NM_182961.4(SYNE1):c.6541-12T>A
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp) rs144797998
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu) rs765343767
NM_182961.4(SYNE1):c.6560A>G (p.Glu2187Gly) rs886061211
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile) rs377531174
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser)
NM_182961.4(SYNE1):c.6723+1G>C
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.6812C>T (p.Pro2271Leu) rs555536675
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe)
NM_182961.4(SYNE1):c.6826-6A>G rs183683592
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) rs117184249
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.6934T>C (p.Phe2312Leu) rs138004884
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly)
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.6983T>C (p.Met2328Thr)
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile) rs372524102
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.7076C>A (p.Thr2359Asn) rs142747430
NM_182961.4(SYNE1):c.7091A>G (p.Asn2364Ser)
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.7238-9T>C rs1591882273
NM_182961.4(SYNE1):c.7277A>C (p.Lys2426Thr)
NM_182961.4(SYNE1):c.7284A>C (p.Ala2428=) rs886043162
NM_182961.4(SYNE1):c.7303C>G (p.Arg2435Gly)
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.7309G>A (p.Gly2437Ser) rs140948068
NM_182961.4(SYNE1):c.7402C>G (p.Gln2468Glu) rs1384323646
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452
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.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.7556+14A>G rs78034368
NM_182961.4(SYNE1):c.7603G>A (p.Glu2535Lys) rs764800126
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.7644G>C (p.Gln2548His)
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375
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.7737G>A (p.Gln2579=) rs1275065218
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val) rs528549317
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.7854C>T (p.Ser2618=) rs79449810
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.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.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.8014C>G (p.Leu2672Val) rs1563634104
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520
NM_182961.4(SYNE1):c.8065G>A (p.Glu2689Lys)
NM_182961.4(SYNE1):c.8069A>C (p.Gln2690Pro) rs1591716331
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.8210A>G (p.Asp2737Gly) rs886044469
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048
NM_182961.4(SYNE1):c.8241G>C (p.Gln2747His) rs200658991
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.8339T>C (p.Leu2780Pro) rs757960938
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His) rs139175290
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950
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.8462T>C (p.Phe2821Ser)
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala) rs375079396
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.8606T>C (p.Met2869Thr) rs371025400
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr) rs770907182
NM_182961.4(SYNE1):c.866G>C (p.Ser289Thr) rs139190745
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.888+4G>C
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.9027G>A (p.Leu3009=) rs148486281
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.9074A>T (p.Glu3025Val)
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly) rs144643941
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.91C>T (p.Arg31Ter) rs199708211
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=) rs199554198
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.92G>A (p.Arg31Gln) rs747634832
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>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.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.952G>A (p.Val318Ile)
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052
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) 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.9651+12G>A rs143173603
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945
NM_182961.4(SYNE1):c.9679G>C (p.Glu3227Gln)
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
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.9738C>T (p.Ala3246=) rs140123292
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.9788C>T (p.Ala3263Val) rs780460827
NM_182961.4(SYNE1):c.9807+14C>G rs182453040
NM_182961.4(SYNE1):c.9807+5C>T rs185350092
NM_182961.4(SYNE1):c.9807+6G>A rs376694958
NM_182961.4(SYNE1):c.9832A>G (p.Ile3278Val)
NM_182961.4(SYNE1):c.9855C>T (p.Phe3285=) rs776394371
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.9953G>A (p.Ser3318Asn) rs746689638
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=) rs747731841

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