ClinVar Miner

List of variants in gene SYNE2 reported as likely benign for Emery-Dreifuss muscular dystrophy 5, autosomal dominant

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Gene type:
ClinVar version:
Total variants: 1144
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His) rs17101661 0.01834
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894 0.01330
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845 0.01198
NM_182914.3(SYNE2):c.888+17A>G rs141247973 0.00534
NM_182914.3(SYNE2):c.2803T>C (p.Leu935=) rs114718315 0.00474
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_182914.3(SYNE2):c.16420T>A (p.Ser5474Thr) rs114483901 0.00399
NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571 0.00341
NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578 0.00335
NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln) rs35831865 0.00309
NM_182914.3(SYNE2):c.15781G>A (p.Val5261Ile) rs144605670 0.00267
NM_182914.3(SYNE2):c.12560A>T (p.Asn4187Ile) rs34480732 0.00262
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_182914.3(SYNE2):c.2560C>G (p.Gln854Glu) rs34449017 0.00250
NM_182914.3(SYNE2):c.19415C>T (p.Ser6472Leu) rs150955173 0.00242
NM_182914.3(SYNE2):c.7872A>C (p.Glu2624Asp) rs140325055 0.00217
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_182914.3(SYNE2):c.11530A>G (p.Ile3844Val) rs140243093 0.00173
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016 0.00172
NM_182914.3(SYNE2):c.16156C>T (p.Leu5386Phe) rs184745422 0.00140
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=) rs74975380 0.00139
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His) rs144596211 0.00133
NM_182914.3(SYNE2):c.10313G>A (p.Cys3438Tyr) rs144108695 0.00132
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys) rs200611311 0.00131
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr) rs145871645 0.00121
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135 0.00116
NM_182914.3(SYNE2):c.7643+6T>C rs144143344 0.00111
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801 0.00103
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg) rs201036334 0.00103
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_182914.3(SYNE2):c.16195G>A (p.Ala5399Thr) rs140265039 0.00096
NM_182914.3(SYNE2):c.1873C>T (p.His625Tyr) rs192061494 0.00096
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
NM_182914.3(SYNE2):c.1852C>G (p.Leu618Val) rs199697908 0.00094
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847 0.00091
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155 0.00091
NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile) rs148582250 0.00086
NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg) rs147640636 0.00086
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373 0.00086
NM_182914.3(SYNE2):c.3767G>A (p.Arg1256His) rs183356628 0.00084
NM_182914.3(SYNE2):c.16619C>G (p.Ala5540Gly) rs146819341 0.00083
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737 0.00082
NM_182914.3(SYNE2):c.14920T>G (p.Ser4974Ala) rs142514437 0.00081
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala) rs146977539 0.00076
NM_182914.3(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925 0.00073
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp) rs142169651 0.00070
NM_182914.3(SYNE2):c.12636C>G (p.Asp4212Glu) rs752924139 0.00065
NM_182914.3(SYNE2):c.16088A>G (p.His5363Arg) rs150677837 0.00065
NM_182914.3(SYNE2):c.14681G>A (p.Arg4894Gln) rs116823334 0.00064
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His) rs200437377 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=) rs201000414 0.00058
NM_182914.3(SYNE2):c.6345C>G (p.Thr2115=) rs373613471 0.00057
NM_182914.3(SYNE2):c.280A>G (p.Ile94Val) rs146748294 0.00056
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=) rs373646325 0.00055
NM_182914.3(SYNE2):c.15218A>G (p.Asn5073Ser) rs142274277 0.00054
NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly) rs138797058 0.00054
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_182914.3(SYNE2):c.14844-8C>G rs375500620 0.00051
NM_182914.3(SYNE2):c.20536C>T (p.Pro6846Ser) rs147848144 0.00051
NM_182914.3(SYNE2):c.3773A>G (p.Tyr1258Cys) rs370541277 0.00051
NM_182914.3(SYNE2):c.6096C>T (p.Ile2032=) rs374097374 0.00051
NM_182914.3(SYNE2):c.8567T>G (p.Leu2856Arg) rs73277593 0.00051
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822 0.00051
NM_182914.3(SYNE2):c.521A>G (p.Lys174Arg) rs139238702 0.00048
NM_182914.3(SYNE2):c.20061+4C>T rs373128678 0.00046
NM_182914.3(SYNE2):c.20632T>G (p.Ser6878Ala) rs562773114 0.00046
NM_182914.3(SYNE2):c.6071C>T (p.Thr2024Ile) rs201401811 0.00046
NM_182914.3(SYNE2):c.14385A>T (p.Ala4795=) rs147001272 0.00044
NM_182914.3(SYNE2):c.1356A>C (p.Glu452Asp) rs199748407 0.00043
NM_182914.3(SYNE2):c.4994C>T (p.Ala1665Val) rs200143024 0.00043
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149 0.00042
NM_182914.3(SYNE2):c.2402A>G (p.Gln801Arg) rs200848069 0.00041
NM_182914.3(SYNE2):c.9231G>A (p.Pro3077=) rs199659722 0.00041
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242 0.00038
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405 0.00037
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551 0.00036
NM_182914.3(SYNE2):c.169C>T (p.Leu57=) rs370692798 0.00036
NM_182914.3(SYNE2):c.2936A>G (p.His979Arg) rs546054742 0.00036
NM_182914.3(SYNE2):c.8964C>T (p.Leu2988=) rs374107455 0.00034
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His) rs142206385 0.00030
NM_182914.3(SYNE2):c.11164-4C>T rs370961691 0.00029
NM_182914.3(SYNE2):c.17158A>G (p.Ser5720Gly) rs151044620 0.00029
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439 0.00029
NM_182914.3(SYNE2):c.3641T>A (p.Met1214Lys) rs201166748 0.00029
NM_182914.3(SYNE2):c.15132T>A (p.Leu5044=) rs201429908 0.00028
NM_182914.3(SYNE2):c.1962G>A (p.Leu654=) rs183609756 0.00026
NM_182914.3(SYNE2):c.3639-6A>G rs369878032 0.00026
NM_182914.3(SYNE2):c.12121C>T (p.Arg4041Cys) rs146197259 0.00025
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048 0.00025
NM_182914.3(SYNE2):c.13065A>G (p.Gln4355=) rs7147884 0.00024
NM_182914.3(SYNE2):c.19313C>T (p.Pro6438Leu) rs149508344 0.00024
NM_182914.3(SYNE2):c.9303A>G (p.Ile3101Met) rs188992180 0.00024
NM_182914.3(SYNE2):c.10008A>C (p.Leu3336=) rs370368366 0.00023
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys) rs144702281 0.00023
NM_182914.3(SYNE2):c.9785A>G (p.Lys3262Arg) rs374766665 0.00023
NM_182914.3(SYNE2):c.12949C>T (p.Leu4317=) rs372251754 0.00022
NM_182914.3(SYNE2):c.14340+11C>T rs374706268 0.00022
NM_182914.3(SYNE2):c.5193G>A (p.Gln1731=) rs373231298 0.00022
NM_182914.3(SYNE2):c.10815A>T (p.Ser3605=) rs377396543 0.00021
NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=) rs148708516 0.00021
NM_182914.3(SYNE2):c.16881C>T (p.Leu5627=) rs149949857 0.00021
NM_182914.3(SYNE2):c.16894A>G (p.Lys5632Glu) rs375876618 0.00021
NM_182914.3(SYNE2):c.22C>T (p.Pro8Ser) rs2275017 0.00021
NM_182914.3(SYNE2):c.11793+12T>C rs568556801 0.00020
NM_182914.3(SYNE2):c.12738C>T (p.Ala4246=) rs143927906 0.00020
NM_182914.3(SYNE2):c.16312G>A (p.Asp5438Asn) rs201134182 0.00020
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His) rs538344879 0.00020
NM_182914.3(SYNE2):c.16875T>G (p.Pro5625=) rs372506361 0.00019
NM_182914.3(SYNE2):c.19402+10C>G rs759119344 0.00019
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492 0.00019
NM_182914.3(SYNE2):c.7410A>G (p.Ala2470=) rs149447818 0.00019
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326 0.00019
NM_182914.3(SYNE2):c.13377C>G (p.Leu4459=) rs141379692 0.00018
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_182914.3(SYNE2):c.5100G>A (p.Val1700=) rs376691167 0.00018
NM_182914.3(SYNE2):c.9843C>A (p.Pro3281=) rs373355920 0.00018
NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr) rs138644399 0.00017
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
NM_182914.3(SYNE2):c.19417G>C (p.Asp6473His) rs140940287 0.00017
NM_182914.3(SYNE2):c.11061A>G (p.Ala3687=) rs769752720 0.00016
NM_182914.3(SYNE2):c.15165A>G (p.Gln5055=) rs145021738 0.00016
NM_182914.3(SYNE2):c.13708-13C>T rs146315545 0.00015
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222 0.00015
NM_182914.3(SYNE2):c.18540+20C>T rs373805773 0.00015
NM_182914.3(SYNE2):c.19635C>T (p.Ala6545=) rs149510065 0.00015
NM_182914.3(SYNE2):c.20448C>T (p.Ser6816=) rs546213944 0.00015
NM_182914.3(SYNE2):c.2473-13T>C rs370070538 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_182914.3(SYNE2):c.*59G>A rs776787883 0.00014
NM_182914.3(SYNE2):c.13707+17G>A rs190625160 0.00014
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met) rs568071525 0.00014
NM_182914.3(SYNE2):c.14976+10A>G rs367888426 0.00014
NM_182914.3(SYNE2):c.20383-9G>A rs373857906 0.00014
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647 0.00014
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00014
NM_182914.3(SYNE2):c.11549A>G (p.Asp3850Gly) rs527339341 0.00013
NM_182914.3(SYNE2):c.15234A>G (p.Gln5078=) rs139340468 0.00013
NM_182914.3(SYNE2):c.17000+20T>C rs376879878 0.00013
NM_182914.3(SYNE2):c.14019+7A>C rs193073523 0.00012
NM_182914.3(SYNE2):c.15414G>A (p.Thr5138=) rs368919032 0.00012
NM_182914.3(SYNE2):c.1706T>C (p.Met569Thr) rs530677710 0.00012
NM_182914.3(SYNE2):c.20469+7A>G rs370305948 0.00012
NM_182914.3(SYNE2):c.2190A>G (p.Thr730=) rs374751877 0.00012
NM_182914.3(SYNE2):c.11586A>G (p.Gln3862=) rs761417555 0.00011
NM_182914.3(SYNE2):c.12056T>G (p.Phe4019Cys) rs150105416 0.00011
NM_182914.3(SYNE2):c.13023+8A>G rs372360775 0.00011
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met) rs145018323 0.00011
NM_182914.3(SYNE2):c.16985C>T (p.Thr5662Ile) rs201850995 0.00011
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile) rs773841153 0.00011
NM_182914.3(SYNE2):c.6772G>A (p.Val2258Ile) rs200336916 0.00011
NM_182914.3(SYNE2):c.12381+6G>A rs781486571 0.00010
NM_182914.3(SYNE2):c.1359T>C (p.Asn453=) rs377273531 0.00010
NM_182914.3(SYNE2):c.14388C>T (p.Tyr4796=) rs767447208 0.00010
NM_182914.3(SYNE2):c.14544A>G (p.Ala4848=) rs150819349 0.00010
NM_182914.3(SYNE2):c.16410C>G (p.Gly5470=) rs200393620 0.00010
NM_182914.3(SYNE2):c.17209A>C (p.Thr5737Pro) rs576835974 0.00010
NM_182914.3(SYNE2):c.20240A>C (p.Gln6747Pro) rs147470935 0.00010
NM_182914.3(SYNE2):c.5020T>C (p.Leu1674=) rs201666704 0.00010
NM_182914.3(SYNE2):c.6404+7G>C rs369461571 0.00010
NM_182914.3(SYNE2):c.7144G>A (p.Ala2382Thr) rs774232167 0.00010
NM_182914.3(SYNE2):c.9745-9A>G rs778028287 0.00010
NM_182914.3(SYNE2):c.10306G>A (p.Gly3436Ser) rs768614412 0.00009
NM_182914.3(SYNE2):c.10760C>T (p.Ser3587Phe) rs748430621 0.00009
NM_182914.3(SYNE2):c.12931G>A (p.Glu4311Lys) rs142277402 0.00009
NM_182914.3(SYNE2):c.18429C>T (p.Asp6143=) rs559412468 0.00009
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp) rs761998546 0.00009
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=) rs186839881 0.00009
NM_182914.3(SYNE2):c.19623C>T (p.Asp6541=) rs150366060 0.00009
NM_182914.3(SYNE2):c.20061+20C>T rs772301268 0.00009
NM_182914.3(SYNE2):c.20190+14C>T rs201963415 0.00009
NM_182914.3(SYNE2):c.20322G>A (p.Lys6774=) rs375687942 0.00009
NM_182914.3(SYNE2):c.20590C>T (p.Leu6864Phe) rs201554266 0.00009
NM_182914.3(SYNE2):c.354T>C (p.Asp118=) rs376281752 0.00009
NM_182914.3(SYNE2):c.6338A>G (p.Gln2113Arg) rs772206760 0.00009
NM_182914.3(SYNE2):c.907A>G (p.Met303Val) rs377535370 0.00009
NM_182914.3(SYNE2):c.11790G>C (p.Gly3930=) rs139751176 0.00008
NM_182914.3(SYNE2):c.16127A>G (p.Gln5376Arg) rs753646712 0.00008
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028 0.00008
NM_182914.3(SYNE2):c.18389+7A>T rs372337180 0.00008
NM_182914.3(SYNE2):c.19403-7G>A rs376162746 0.00008
NM_182914.3(SYNE2):c.2903G>A (p.Arg968His) rs200356303 0.00008
NM_182914.3(SYNE2):c.3141G>A (p.Thr1047=) rs372376442 0.00008
NM_182914.3(SYNE2):c.3513A>G (p.Lys1171=) rs201622508 0.00008
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp) rs773994020 0.00008
NM_182914.3(SYNE2):c.4071G>A (p.Thr1357=) rs371506443 0.00008
NM_182914.3(SYNE2):c.5751C>T (p.Leu1917=) rs373040509 0.00008
NM_182914.3(SYNE2):c.5840+20T>C rs755302292 0.00008
NM_182914.3(SYNE2):c.687C>G (p.Asp229Glu) rs118004985 0.00008
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197 0.00008
NM_182914.3(SYNE2):c.9763T>G (p.Tyr3255Asp) rs550381432 0.00008
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641 0.00007
NM_182914.3(SYNE2):c.14984C>T (p.Ser4995Leu) rs149790950 0.00007
NM_182914.3(SYNE2):c.17091G>C (p.Gly5697=) rs146814777 0.00007
NM_182914.3(SYNE2):c.19636G>A (p.Gly6546Ser) rs199577239 0.00007
NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn) rs760936547 0.00007
NM_182914.3(SYNE2):c.3786+19A>G rs374889181 0.00007
NM_182914.3(SYNE2):c.4116C>T (p.Asp1372=) rs752238427 0.00007
NM_182914.3(SYNE2):c.6715-11T>G rs538625441 0.00007
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825 0.00006
NM_182914.3(SYNE2):c.11055A>G (p.Ser3685=) rs377064380 0.00006
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_182914.3(SYNE2):c.14088G>A (p.Gly4696=) rs200893674 0.00006
NM_182914.3(SYNE2):c.14184A>G (p.Thr4728=) rs753123786 0.00006
NM_182914.3(SYNE2):c.14976+7T>C rs373748782 0.00006
NM_182914.3(SYNE2):c.15552C>T (p.Asn5184=) rs201334658 0.00006
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874 0.00006
NM_182914.3(SYNE2):c.16374A>T (p.Gln5458His) rs191057574 0.00006
NM_182914.3(SYNE2):c.17409G>A (p.Lys5803=) rs746000868 0.00006
NM_182914.3(SYNE2):c.17973G>A (p.Glu5991=) rs146253751 0.00006
NM_182914.3(SYNE2):c.18834C>T (p.Asp6278=) rs757742735 0.00006
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln) rs140857065 0.00006
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358 0.00006
NM_182914.3(SYNE2):c.19911C>T (p.Asn6637=) rs201444715 0.00006
NM_182914.3(SYNE2):c.2289C>T (p.Asp763=) rs201026780 0.00006
NM_182914.3(SYNE2):c.303A>G (p.Leu101=) rs371277498 0.00006
NM_182914.3(SYNE2):c.3708C>T (p.Gly1236=) rs373420375 0.00006
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702 0.00006
NM_182914.3(SYNE2):c.7664C>T (p.Thr2555Met) rs201297144 0.00006
NM_182914.3(SYNE2):c.787+15T>G rs374295389 0.00006
NM_182914.3(SYNE2):c.788-6T>C rs200037313 0.00006
NM_182914.3(SYNE2):c.8691G>C (p.Glu2897Asp) rs758754933 0.00006
NM_182914.3(SYNE2):c.8862G>T (p.Ala2954=) rs373930498 0.00006
NM_182914.3(SYNE2):c.9813C>T (p.Ser3271=) rs764422613 0.00006
NM_182914.3(SYNE2):c.1119C>T (p.Leu373=) rs1480808285 0.00005
NM_182914.3(SYNE2):c.11937A>G (p.Leu3979=) rs147744381 0.00005
NM_182914.3(SYNE2):c.13791C>A (p.Gly4597=) rs149350389 0.00005
NM_182914.3(SYNE2):c.14227T>C (p.Leu4743=) rs201872454 0.00005
NM_182914.3(SYNE2):c.14298C>G (p.Thr4766=) rs779655754 0.00005
NM_182914.3(SYNE2):c.16754G>A (p.Arg5585His) rs141144237 0.00005
NM_182914.3(SYNE2):c.1698T>C (p.Asp566=) rs764373442 0.00005
NM_182914.3(SYNE2):c.17713-20A>G rs754951624 0.00005
NM_182914.3(SYNE2):c.1875C>T (p.His625=) rs372968718 0.00005
NM_182914.3(SYNE2):c.19938C>T (p.Thr6646=) rs765762035 0.00005
NM_182914.3(SYNE2):c.2877A>G (p.Gln959=) rs757754481 0.00005
NM_182914.3(SYNE2):c.3532T>C (p.Leu1178=) rs749552415 0.00005
NM_182914.3(SYNE2):c.3885C>T (p.His1295=) rs570341792 0.00005
NM_182914.3(SYNE2):c.4070C>T (p.Thr1357Met) rs769845003 0.00005
NM_182914.3(SYNE2):c.5045T>C (p.Leu1682Pro) rs199668814 0.00005
NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val) rs375543783 0.00005
NM_182914.3(SYNE2):c.80-7T>G rs769250456 0.00005
NM_182914.3(SYNE2):c.1014A>G (p.Ser338=) rs1205640366 0.00004
NM_182914.3(SYNE2):c.10432-17T>G rs376299946 0.00004
NM_182914.3(SYNE2):c.10770A>G (p.Lys3590=) rs200301350 0.00004
NM_182914.3(SYNE2):c.12189C>T (p.Thr4063=) rs372251838 0.00004
NM_182914.3(SYNE2):c.12192A>G (p.Val4064=) rs374645403 0.00004
NM_182914.3(SYNE2):c.12492+12C>T rs368374335 0.00004
NM_182914.3(SYNE2):c.12600A>G (p.Gln4200=) rs189167925 0.00004
NM_182914.3(SYNE2):c.12660A>G (p.Gln4220=) rs745820221 0.00004
NM_182914.3(SYNE2):c.12783G>A (p.Pro4261=) rs373978139 0.00004
NM_182914.3(SYNE2):c.13281-6C>T rs376973894 0.00004
NM_182914.3(SYNE2):c.13452C>T (p.Ser4484=) rs138084733 0.00004
NM_182914.3(SYNE2):c.13917+10C>T rs760288753 0.00004
NM_182914.3(SYNE2):c.14052C>T (p.Asn4684=) rs755641355 0.00004
NM_182914.3(SYNE2):c.14071A>G (p.Lys4691Glu) rs143798878 0.00004
NM_182914.3(SYNE2):c.14140-14T>C rs745639925 0.00004
NM_182914.3(SYNE2):c.14313G>A (p.Ala4771=) rs148690779 0.00004
NM_182914.3(SYNE2):c.1598C>T (p.Ala533Val) rs371740578 0.00004
NM_182914.3(SYNE2):c.16194C>T (p.Ala5398=) rs764264884 0.00004
NM_182914.3(SYNE2):c.16310A>G (p.His5437Arg) rs202122347 0.00004
NM_182914.3(SYNE2):c.16848C>T (p.Leu5616=) rs375802845 0.00004
NM_182914.3(SYNE2):c.17236-16C>T rs372327611 0.00004
NM_182914.3(SYNE2):c.17321T>C (p.Leu5774Pro) rs756967024 0.00004
NM_182914.3(SYNE2):c.18037A>C (p.Arg6013=) rs375971416 0.00004
NM_182914.3(SYNE2):c.18641G>A (p.Arg6214Lys) rs200152990 0.00004
NM_182914.3(SYNE2):c.1908C>T (p.Val636=) rs201309132 0.00004
NM_182914.3(SYNE2):c.19333+7G>A rs779312321 0.00004
NM_182914.3(SYNE2):c.19861-5G>C rs182600079 0.00004
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys) rs201472187 0.00004
NM_182914.3(SYNE2):c.3639-12C>T rs750618626 0.00004
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu) rs201327410 0.00004
NM_182914.3(SYNE2):c.5742C>T (p.Ile1914=) rs755138752 0.00004
NM_182914.3(SYNE2):c.5987T>C (p.Leu1996Ser) rs780750526 0.00004
NM_182914.3(SYNE2):c.6714+17A>G rs910718478 0.00004
NM_182914.3(SYNE2):c.6736G>A (p.Gly2246Ser) rs774737023 0.00004
NM_182914.3(SYNE2):c.7146C>A (p.Ala2382=) rs1463651183 0.00004
NM_182914.3(SYNE2):c.7222-9G>A rs373161954 0.00004
NM_182914.3(SYNE2):c.7830G>A (p.Val2610=) rs371302175 0.00004
NM_182914.3(SYNE2):c.8484A>G (p.Gln2828=) rs747556170 0.00004
NM_182914.3(SYNE2):c.9057A>G (p.Gln3019=) rs367619644 0.00004
NM_182914.3(SYNE2):c.9691C>T (p.Arg3231Cys) rs546650178 0.00004
NM_182914.3(SYNE2):c.10947G>A (p.Met3649Ile) rs772140514 0.00003
NM_182914.3(SYNE2):c.12465T>C (p.Ala4155=) rs1367399695 0.00003
NM_182914.3(SYNE2):c.12657G>A (p.Ala4219=) rs76668149 0.00003
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017 0.00003
NM_182914.3(SYNE2):c.15253G>A (p.Val5085Met) rs144471413 0.00003
NM_182914.3(SYNE2):c.16480-10C>G rs768388576 0.00003
NM_182914.3(SYNE2):c.16737G>A (p.Thr5579=) rs147156341 0.00003
NM_182914.3(SYNE2):c.16857T>C (p.Asp5619=) rs370160896 0.00003
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln) rs554186246 0.00003
NM_182914.3(SYNE2):c.17172T>C (p.Ser5724=) rs761070657 0.00003
NM_182914.3(SYNE2):c.18231C>T (p.Ser6077=) rs747245462 0.00003
NM_182914.3(SYNE2):c.18273G>A (p.Leu6091=) rs1051308118 0.00003
NM_182914.3(SYNE2):c.18315G>A (p.Ser6105=) rs202084149 0.00003
NM_182914.3(SYNE2):c.18724-14C>A rs1294405956 0.00003
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=) rs757232346 0.00003
NM_182914.3(SYNE2):c.19204G>A (p.Glu6402Lys) rs200971467 0.00003
NM_182914.3(SYNE2):c.20028A>G (p.Arg6676=) rs759606978 0.00003
NM_182914.3(SYNE2):c.2016A>G (p.Pro672=) rs1277454250 0.00003
NM_182914.3(SYNE2):c.2333C>G (p.Ser778Cys) rs186652746 0.00003
NM_182914.3(SYNE2):c.27C>T (p.Thr9=) rs755131989 0.00003
NM_182914.3(SYNE2):c.57C>T (p.Asp19=) rs749130552 0.00003
NM_182914.3(SYNE2):c.590+20C>T rs747991198 0.00003
NM_182914.3(SYNE2):c.6183A>G (p.Lys2061=) rs758892069 0.00003
NM_182914.3(SYNE2):c.6880-4G>A rs776756586 0.00003
NM_182914.3(SYNE2):c.7071C>A (p.Leu2357=) rs750860738 0.00003
NM_182914.3(SYNE2):c.7222-12T>C rs370855587 0.00003
NM_182914.3(SYNE2):c.8841A>G (p.Gln2947=) rs375616798 0.00003
NM_182914.3(SYNE2):c.8856A>G (p.Thr2952=) rs542751414 0.00003
NM_182914.3(SYNE2):c.9252C>T (p.Ala3084=) rs200061977 0.00003
NM_182914.3(SYNE2):c.10697+20A>G rs754817209 0.00002
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met) rs373340663 0.00002
NM_182914.3(SYNE2):c.11175C>T (p.Asp3725=) rs138545972 0.00002
NM_182914.3(SYNE2):c.1129-4T>C rs1231962702 0.00002
NM_182914.3(SYNE2):c.1257C>T (p.Ala419=) rs1308417745 0.00002
NM_182914.3(SYNE2):c.12609+20A>T rs1005221695 0.00002
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=) rs762957203 0.00002
NM_182914.3(SYNE2):c.13422+11_13422+15dup rs1334187345 0.00002
NM_182914.3(SYNE2):c.13918-13A>G rs775576281 0.00002
NM_182914.3(SYNE2):c.14252T>C (p.Val4751Ala) rs752935094 0.00002
NM_182914.3(SYNE2):c.14700C>T (p.Asn4900=) rs372676140 0.00002
NM_182914.3(SYNE2):c.14721G>T (p.Ala4907=) rs547898559 0.00002
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu) rs145031656 0.00002
NM_182914.3(SYNE2):c.14976+15C>T rs764391251 0.00002
NM_182914.3(SYNE2):c.15444C>T (p.Asn5148=) rs771629482 0.00002
NM_182914.3(SYNE2):c.15612A>C (p.Ser5204=) rs200252872 0.00002
NM_182914.3(SYNE2):c.15865G>A (p.Val5289Met) rs181059522 0.00002
NM_182914.3(SYNE2):c.15888C>T (p.Phe5296=) rs772838959 0.00002
NM_182914.3(SYNE2):c.16023C>T (p.Ile5341=) rs201645739 0.00002
NM_182914.3(SYNE2):c.16701G>A (p.Thr5567=) rs200950664 0.00002
NM_182914.3(SYNE2):c.16760+6A>G rs756707482 0.00002
NM_182914.3(SYNE2):c.16782G>A (p.Leu5594=) rs540356646 0.00002
NM_182914.3(SYNE2):c.17529C>T (p.Asp5843=) rs1166564255 0.00002
NM_182914.3(SYNE2):c.17557-6A>T rs775211172 0.00002
NM_182914.3(SYNE2):c.17623T>C (p.Leu5875=) rs370682788 0.00002
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=) rs971473774 0.00002
NM_182914.3(SYNE2):c.17823A>G (p.Leu5941=) rs766073729 0.00002
NM_182914.3(SYNE2):c.18054G>A (p.Lys6018=) rs752686051 0.00002
NM_182914.3(SYNE2):c.18276C>T (p.His6092=) rs1006988639 0.00002
NM_182914.3(SYNE2):c.18282C>T (p.Ser6094=) rs201056822 0.00002
NM_182914.3(SYNE2):c.18564G>A (p.Glu6188=) rs766542908 0.00002
NM_182914.3(SYNE2):c.18660C>T (p.His6220=) rs757875136 0.00002
NM_182914.3(SYNE2):c.19152C>T (p.Ser6384=) rs777311548 0.00002
NM_182914.3(SYNE2):c.19272C>T (p.Asp6424=) rs774346816 0.00002
NM_182914.3(SYNE2):c.19293C>T (p.His6431=) rs149178992 0.00002
NM_182914.3(SYNE2):c.19569G>A (p.Thr6523=) rs376821513 0.00002
NM_182914.3(SYNE2):c.19658-15A>G rs767490912 0.00002
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr) rs143077670 0.00002
NM_182914.3(SYNE2):c.20154C>A (p.Asp6718Glu) rs201738236 0.00002
NM_182914.3(SYNE2):c.20516+16C>T rs548855641 0.00002
NM_182914.3(SYNE2):c.20523C>T (p.Pro6841=) rs751852545 0.00002
NM_182914.3(SYNE2):c.20592C>G (p.Leu6864=) rs879099788 0.00002
NM_182914.3(SYNE2):c.2499G>A (p.Ala833=) rs761478156 0.00002
NM_182914.3(SYNE2):c.3710C>T (p.Ser1237Leu) rs200305811 0.00002
NM_182914.3(SYNE2):c.4285C>T (p.Leu1429=) rs761375106 0.00002
NM_182914.3(SYNE2):c.4689G>A (p.Ser1563=) rs372617436 0.00002
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu) rs764521226 0.00002
NM_182914.3(SYNE2):c.5121C>T (p.Leu1707=) rs199819734 0.00002
NM_182914.3(SYNE2):c.5525-11T>C rs1186914371 0.00002
NM_182914.3(SYNE2):c.5960+13T>C rs377327088 0.00002
NM_182914.3(SYNE2):c.6555T>C (p.Tyr2185=) rs112241770 0.00002
NM_182914.3(SYNE2):c.6588A>G (p.Thr2196=) rs367788980 0.00002
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln) rs764036360 0.00002
NM_182914.3(SYNE2):c.6793T>C (p.Leu2265=) rs746513307 0.00002
NM_182914.3(SYNE2):c.7248A>G (p.Ser2416=) rs1440802099 0.00002
NM_182914.3(SYNE2):c.7266T>C (p.Asn2422=) rs747796543 0.00002
NM_182914.3(SYNE2):c.7695A>C (p.Ala2565=) rs373434720 0.00002
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe) rs200570324 0.00002
NM_182914.3(SYNE2):c.8424A>G (p.Leu2808=) rs751330977 0.00002
NM_182914.3(SYNE2):c.8598G>A (p.Thr2866=) rs199771856 0.00002
NM_182914.3(SYNE2):c.8928T>C (p.Gly2976=) rs373828834 0.00002
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=) rs773209564 0.00002
NM_182914.3(SYNE2):c.9088G>A (p.Glu3030Lys) rs60466225 0.00002
NM_182914.3(SYNE2):c.9140A>G (p.Lys3047Arg) rs201471505 0.00002
NM_182914.3(SYNE2):c.939A>G (p.Leu313=) rs369246311 0.00002
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys) rs570116954 0.00002
NM_182914.3(SYNE2):c.10095A>G (p.Arg3365=) rs756893550 0.00001
NM_182914.3(SYNE2):c.10195C>T (p.Arg3399Cys) rs528064472 0.00001
NM_182914.3(SYNE2):c.10332G>A (p.Ser3444=) rs1200933436 0.00001
NM_182914.3(SYNE2):c.10432-5A>G rs778528402 0.00001
NM_182914.3(SYNE2):c.10965A>G (p.Ala3655=) rs762605398 0.00001
NM_182914.3(SYNE2):c.11023-10T>C rs1485815530 0.00001
NM_182914.3(SYNE2):c.11163+7T>C rs1439914153 0.00001
NM_182914.3(SYNE2):c.11229C>T (p.Asp3743=) rs779841354 0.00001
NM_182914.3(SYNE2):c.11528C>T (p.Ser3843Leu) rs757893794 0.00001
NM_182914.3(SYNE2):c.1152A>G (p.Leu384=) rs1379407865 0.00001
NM_182914.3(SYNE2):c.11670+8T>G rs758440569 0.00001
NM_182914.3(SYNE2):c.11670+9G>A rs780011944 0.00001
NM_182914.3(SYNE2):c.12307-9G>A rs376765095 0.00001
NM_182914.3(SYNE2):c.12345C>T (p.Val4115=) rs762079506 0.00001
NM_182914.3(SYNE2):c.12352G>A (p.Glu4118Lys) rs763188798 0.00001
NM_182914.3(SYNE2):c.12537A>G (p.Gln4179=) rs369330578 0.00001
NM_182914.3(SYNE2):c.12594C>G (p.Pro4198=) rs770716382 0.00001
NM_182914.3(SYNE2):c.12618A>C (p.Thr4206=) rs766785640 0.00001
NM_182914.3(SYNE2):c.12795C>T (p.Asn4265=) rs780647420 0.00001
NM_182914.3(SYNE2):c.12841-10T>C rs1387619527 0.00001
NM_182914.3(SYNE2):c.12841-5C>T rs1425905308 0.00001
NM_182914.3(SYNE2):c.12945T>G (p.Leu4315=) rs1308459272 0.00001
NM_182914.3(SYNE2):c.13011C>T (p.His4337=) rs2097882431 0.00001
NM_182914.3(SYNE2):c.1323G>A (p.Ser441=) rs765911939 0.00001
NM_182914.3(SYNE2):c.13256A>G (p.Asp4419Gly) rs376129364 0.00001
NM_182914.3(SYNE2):c.13371T>C (p.His4457=) rs778640413 0.00001
NM_182914.3(SYNE2):c.13457C>G (p.Thr4486Ser) rs377086810 0.00001
NM_182914.3(SYNE2):c.13510C>G (p.Gln4504Glu) rs372861398 0.00001
NM_182914.3(SYNE2):c.13554+7G>C rs776811933 0.00001
NM_182914.3(SYNE2):c.13743G>A (p.Ala4581=) rs543426485 0.00001
NM_182914.3(SYNE2):c.13752C>T (p.Asp4584=) rs770594903 0.00001
NM_182914.3(SYNE2):c.13983T>C (p.Asn4661=) rs200656842 0.00001
NM_182914.3(SYNE2):c.14013G>A (p.Gln4671=) rs1228539994 0.00001
NM_182914.3(SYNE2):c.14028T>C (p.Asp4676=) rs766123007 0.00001
NM_182914.3(SYNE2):c.1407-15T>G rs537583390 0.00001
NM_182914.3(SYNE2):c.14187A>G (p.Glu4729=) rs149662402 0.00001
NM_182914.3(SYNE2):c.14451A>G (p.Thr4817=) rs777338731 0.00001
NM_182914.3(SYNE2):c.144C>T (p.His48=) rs751515594 0.00001
NM_182914.3(SYNE2):c.14586C>G (p.Pro4862=) rs779659277 0.00001
NM_182914.3(SYNE2):c.14643C>T (p.Tyr4881=) rs747393237 0.00001
NM_182914.3(SYNE2):c.1468T>C (p.Leu490=) rs999610655 0.00001
NM_182914.3(SYNE2):c.15159+11A>G rs755542471 0.00001
NM_182914.3(SYNE2):c.15219C>T (p.Asn5073=) rs762722997 0.00001
NM_182914.3(SYNE2):c.15474G>A (p.Leu5158=) rs374906011 0.00001
NM_182914.3(SYNE2):c.15484-10A>T rs1442139129 0.00001
NM_182914.3(SYNE2):c.15484-6A>T rs1009151850 0.00001
NM_182914.3(SYNE2):c.15666A>G (p.Lys5222=) rs1212070796 0.00001
NM_182914.3(SYNE2):c.1570-4C>G rs564220213 0.00001
NM_182914.3(SYNE2):c.15810C>T (p.Thr5270=) rs182449286 0.00001
NM_182914.3(SYNE2):c.16378G>A (p.Ala5460Thr) rs775169295 0.00001
NM_182914.3(SYNE2):c.16480-9T>G rs776380039 0.00001
NM_182914.3(SYNE2):c.16605+10A>G rs761193543 0.00001
NM_182914.3(SYNE2):c.16641T>C (p.Asp5547=) rs767615577 0.00001
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=) rs1490325276 0.00001
NM_182914.3(SYNE2):c.16863T>C (p.Ala5621=) rs200618488 0.00001
NM_182914.3(SYNE2):c.1689G>A (p.Val563=) rs756480117 0.00001
NM_182914.3(SYNE2):c.17082C>T (p.Asp5694=) rs973393555 0.00001
NM_182914.3(SYNE2):c.17430+17C>T rs768432917 0.00001
NM_182914.3(SYNE2):c.17577T>C (p.Ala5859=) rs1408686631 0.00001
NM_182914.3(SYNE2):c.17745A>G (p.Arg5915=) rs747187442 0.00001
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=) rs886050596 0.00001
NM_182914.3(SYNE2):c.18015T>C (p.His6005=) rs1323946751 0.00001
NM_182914.3(SYNE2):c.18038+9T>C rs779922538 0.00001
NM_182914.3(SYNE2):c.18039-13C>A rs763230839 0.00001
NM_182914.3(SYNE2):c.18162C>T (p.Cys6054=) rs1340810234 0.00001
NM_182914.3(SYNE2):c.18240G>A (p.Val6080=) rs897434313 0.00001
NM_182914.3(SYNE2):c.18246C>T (p.Ser6082=) rs371505187 0.00001
NM_182914.3(SYNE2):c.18267C>T (p.Val6089=) rs1303670860 0.00001
NM_182914.3(SYNE2):c.1837-4G>T rs1351178002 0.00001
NM_182914.3(SYNE2):c.18402G>A (p.Thr6134=) rs374459819 0.00001
NM_182914.3(SYNE2):c.1842C>T (p.Pro614=) rs1192547176 0.00001
NM_182914.3(SYNE2):c.18509C>T (p.Thr6170Met) rs200893937 0.00001
NM_182914.3(SYNE2):c.18633G>A (p.Thr6211=) rs755914136 0.00001
NM_182914.3(SYNE2):c.18717A>G (p.Arg6239=) rs764900964 0.00001
NM_182914.3(SYNE2):c.18723+20G>T rs771206230 0.00001
NM_182914.3(SYNE2):c.18744A>G (p.Glu6248=) rs370847169 0.00001
NM_182914.3(SYNE2):c.18771T>C (p.Ile6257=) rs769603327 0.00001
NM_182914.3(SYNE2):c.18810C>T (p.Asn6270=) rs750950612 0.00001
NM_182914.3(SYNE2):c.18873G>A (p.Gln6291=) rs528469386 0.00001
NM_182914.3(SYNE2):c.19023C>A (p.Ser6341=) rs759765636 0.00001
NM_182914.3(SYNE2):c.19056+10C>T rs369172478 0.00001
NM_182914.3(SYNE2):c.19057-6G>C rs1404626317 0.00001
NM_182914.3(SYNE2):c.1914C>T (p.Val638=) rs756044885 0.00001
NM_182914.3(SYNE2):c.19224C>T (p.Thr6408=) rs372802910 0.00001
NM_182914.3(SYNE2):c.19302C>T (p.Asp6434=) rs370677320 0.00001
NM_182914.3(SYNE2):c.19428G>A (p.Ser6476=) rs749018683 0.00001
NM_182914.3(SYNE2):c.19494T>C (p.Asn6498=) rs1381540183 0.00001
NM_182914.3(SYNE2):c.19497T>C (p.Val6499=) rs1176808345 0.00001
NM_182914.3(SYNE2):c.19509C>A (p.Pro6503=) rs1211489077 0.00001
NM_182914.3(SYNE2):c.19554A>G (p.Leu6518=) rs775682046 0.00001
NM_182914.3(SYNE2):c.19657+19A>G rs759411356 0.00001
NM_182914.3(SYNE2):c.19773A>G (p.Lys6591=) rs1046553272 0.00001
NM_182914.3(SYNE2):c.20139C>T (p.Thr6713=) rs765716455 0.00001
NM_182914.3(SYNE2):c.20409C>T (p.Phe6803=) rs1233622581 0.00001
NM_182914.3(SYNE2):c.20423C>T (p.Ser6808Leu) rs372922867 0.00001
NM_182914.3(SYNE2):c.20511G>A (p.Glu6837=) rs559718346 0.00001
NM_182914.3(SYNE2):c.20517-13C>T rs752222544 0.00001
NM_182914.3(SYNE2):c.20547C>T (p.Ser6849=) rs371041220 0.00001
NM_182914.3(SYNE2):c.20631C>T (p.Ser6877=) rs1473688689 0.00001
NM_182914.3(SYNE2):c.2067T>C (p.Ile689=) rs375396479 0.00001
NM_182914.3(SYNE2):c.20688C>T (p.Pro6896=) rs1419099314 0.00001
NM_182914.3(SYNE2):c.20715C>A (p.Pro6905=) rs765218485 0.00001
NM_182914.3(SYNE2):c.2493T>G (p.Ile831Met) rs754886522 0.00001
NM_182914.3(SYNE2):c.2517C>T (p.Asp839=) rs776136245 0.00001
NM_182914.3(SYNE2):c.2532G>A (p.Leu844=) rs769024558 0.00001
NM_182914.3(SYNE2):c.2787T>A (p.Leu929=) rs1422696880 0.00001
NM_182914.3(SYNE2):c.2967G>A (p.Leu989=) rs1166230456 0.00001
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=) rs886050580 0.00001
NM_182914.3(SYNE2):c.3152+11C>G rs1351316005 0.00001
NM_182914.3(SYNE2):c.3429T>C (p.Ser1143=) rs752244351 0.00001
NM_182914.3(SYNE2):c.3639-7C>T rs1372182084 0.00001
NM_182914.3(SYNE2):c.3711G>A (p.Ser1237=) rs773704983 0.00001
NM_182914.3(SYNE2):c.3787-12T>A rs1321975749 0.00001
NM_182914.3(SYNE2):c.408+8G>A rs753202342 0.00001
NM_182914.3(SYNE2):c.4380T>G (p.Val1460=) rs746868605 0.00001
NM_182914.3(SYNE2):c.4710G>C (p.Leu1570=) rs774571797 0.00001
NM_182914.3(SYNE2):c.4939T>C (p.Leu1647=) rs760189953 0.00001
NM_182914.3(SYNE2):c.495A>G (p.Ser165=) rs758680110 0.00001
NM_182914.3(SYNE2):c.4977T>C (p.Asp1659=) rs369766827 0.00001
NM_182914.3(SYNE2):c.5019A>G (p.Gln1673=) rs577536564 0.00001
NM_182914.3(SYNE2):c.5253G>A (p.Arg1751=) rs375022006 0.00001
NM_182914.3(SYNE2):c.5463C>T (p.Val1821=) rs2096938872 0.00001
NM_182914.3(SYNE2):c.5525-5T>C rs368511555 0.00001
NM_182914.3(SYNE2):c.5529A>G (p.Gln1843=) rs757852900 0.00001
NM_182914.3(SYNE2):c.5619A>G (p.Gln1873=) rs371756347 0.00001
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=) rs766666230 0.00001
NM_182914.3(SYNE2):c.585C>T (p.Cys195=) rs762405319 0.00001
NM_182914.3(SYNE2):c.5985A>G (p.Gln1995=) rs754628340 0.00001
NM_182914.3(SYNE2):c.6315G>A (p.Glu2105=) rs931196719 0.00001
NM_182914.3(SYNE2):c.6381C>T (p.Leu2127=) rs1293504177 0.00001
NM_182914.3(SYNE2):c.654C>T (p.Ala218=) rs759694907 0.00001
NM_182914.3(SYNE2):c.6585G>A (p.Leu2195=) rs1468484964 0.00001
NM_182914.3(SYNE2):c.6915A>G (p.Thr2305=) rs767578236 0.00001
NM_182914.3(SYNE2):c.6945C>T (p.Ser2315=) rs564454573 0.00001
NM_182914.3(SYNE2):c.6993T>C (p.Asp2331=) rs781188791 0.00001
NM_182914.3(SYNE2):c.711C>G (p.Ser237=) rs758188083 0.00001
NM_182914.3(SYNE2):c.7227A>G (p.Ser2409=) rs1351381991 0.00001
NM_182914.3(SYNE2):c.7257T>C (p.Leu2419=) rs768146609 0.00001
NM_182914.3(SYNE2):c.7378-17G>A rs765573084 0.00001
NM_182914.3(SYNE2):c.7463C>T (p.Ala2488Val) rs763317566 0.00001
NM_182914.3(SYNE2):c.7563C>T (p.Val2521=) rs760651832 0.00001
NM_182914.3(SYNE2):c.7614C>T (p.Ala2538=) rs1377164548 0.00001
NM_182914.3(SYNE2):c.7665G>A (p.Thr2555=) rs772344164 0.00001
NM_182914.3(SYNE2):c.787+12T>C rs775758502 0.00001
NM_182914.3(SYNE2):c.8013C>T (p.Asp2671=) rs1324986561 0.00001
NM_182914.3(SYNE2):c.8247A>G (p.Glu2749=) rs957070747 0.00001
NM_182914.3(SYNE2):c.888+11A>G rs747593732 0.00001
NM_182914.3(SYNE2):c.888+18T>C rs1237235458 0.00001
NM_182914.3(SYNE2):c.9186T>C (p.Ile3062=) rs1178929783 0.00001
NM_182914.3(SYNE2):c.9330C>T (p.Thr3110=) rs765014161 0.00001
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His) rs1026697162 0.00001
NM_182914.3(SYNE2):c.9558A>G (p.Gln3186=) rs776801026 0.00001
NM_182914.3(SYNE2):c.9744+10A>C rs1242432428 0.00001
NM_182914.3(SYNE2):c.990+12T>G rs775463750 0.00001
NM_182914.3(SYNE2):c.9993T>C (p.Tyr3331=) rs777547599 0.00001
NM_182914.3(SYNE2):c.10065A>G (p.Glu3355=)
NM_182914.3(SYNE2):c.10067+13C>T
NM_182914.3(SYNE2):c.10068-19T>C
NM_182914.3(SYNE2):c.10116C>T (p.Tyr3372=) rs757890554
NM_182914.3(SYNE2):c.1011G>A (p.Glu337=)
NM_182914.3(SYNE2):c.10140A>G (p.Thr3380=)
NM_182914.3(SYNE2):c.10194G>A (p.Glu3398=)
NM_182914.3(SYNE2):c.10212+20G>A rs200261434
NM_182914.3(SYNE2):c.10329G>A (p.Val3443=) rs773990537
NM_182914.3(SYNE2):c.1032G>A (p.Lys344=)
NM_182914.3(SYNE2):c.10401G>A (p.Leu3467=)
NM_182914.3(SYNE2):c.10431+11C>T
NM_182914.3(SYNE2):c.10431+12A>G rs2097353282
NM_182914.3(SYNE2):c.10431+19A>G
NM_182914.3(SYNE2):c.10432-7G>C
NM_182914.3(SYNE2):c.10432-7G>T rs749169072
NM_182914.3(SYNE2):c.10515G>A (p.Glu3505=)
NM_182914.3(SYNE2):c.10560C>T (p.Asn3520=)
NM_182914.3(SYNE2):c.10638G>T (p.Gly3546=) rs201834981
NM_182914.3(SYNE2):c.10686A>G (p.Glu3562=) rs2153599710
NM_182914.3(SYNE2):c.10697+10A>T
NM_182914.3(SYNE2):c.10698-12G>A
NM_182914.3(SYNE2):c.10698-13C>T
NM_182914.3(SYNE2):c.10740T>C (p.Thr3580=)
NM_182914.3(SYNE2):c.10782T>G (p.Ala3594=) rs1595337089
NM_182914.3(SYNE2):c.10866+14G>A rs2153603601
NM_182914.3(SYNE2):c.10875A>G (p.Gln3625=)
NM_182914.3(SYNE2):c.10941C>T (p.Ser3647=)
NM_182914.3(SYNE2):c.11023-13G>C
NM_182914.3(SYNE2):c.11023-20C>T
NM_182914.3(SYNE2):c.11103T>C (p.Asn3701=) rs369232223
NM_182914.3(SYNE2):c.11164-19T>G
NM_182914.3(SYNE2):c.1128+10T>C rs2096415870
NM_182914.3(SYNE2):c.1128+19T>G
NM_182914.3(SYNE2):c.1129-5T>C
NM_182914.3(SYNE2):c.11325T>C (p.Cys3775=)
NM_182914.3(SYNE2):c.11346+12A>T
NM_182914.3(SYNE2):c.11346+16G>A
NM_182914.3(SYNE2):c.11347-14C>T rs1208369187
NM_182914.3(SYNE2):c.11422C>T (p.Leu3808=) rs2153612993
NM_182914.3(SYNE2):c.11478T>G (p.Thr3826=) rs2153613027
NM_182914.3(SYNE2):c.11490T>C (p.Ala3830=) rs2153622100
NM_182914.3(SYNE2):c.114G>T (p.Thr38=) rs369020126
NM_182914.3(SYNE2):c.11550C>A (p.Asp3850Glu) rs146261323
NM_182914.3(SYNE2):c.11550C>T (p.Asp3850=) rs146261323
NM_182914.3(SYNE2):c.11589del (p.Ile3864fs) rs1172418857
NM_182914.3(SYNE2):c.1158T>C (p.Tyr386=)
NM_182914.3(SYNE2):c.11671-15C>T
NM_182914.3(SYNE2):c.1167C>T (p.Pro389=)
NM_182914.3(SYNE2):c.11760T>C (p.Asp3920=)
NM_182914.3(SYNE2):c.11793+10G>A
NM_182914.3(SYNE2):c.11794-14C>T
NM_182914.3(SYNE2):c.11794-9A>G
NM_182914.3(SYNE2):c.11935C>T (p.Leu3979=) rs76576553
NM_182914.3(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.3(SYNE2):c.11977-18G>A
NM_182914.3(SYNE2):c.11977-20T>C
NM_182914.3(SYNE2):c.12096G>A (p.Leu4032=)
NM_182914.3(SYNE2):c.12108+10_12108+32dup rs1333520524
NM_182914.3(SYNE2):c.12108+18A>G
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182914.3(SYNE2):c.12117C>T (p.Ile4039=)
NM_182914.3(SYNE2):c.12186C>T (p.Ala4062=) rs1037442946
NM_182914.3(SYNE2):c.12306+12T>G
NM_182914.3(SYNE2):c.12307-11G>A
NM_182914.3(SYNE2):c.12307-13C>T
NM_182914.3(SYNE2):c.12307-16G>C
NM_182914.3(SYNE2):c.1230G>A (p.Leu410=)
NM_182914.3(SYNE2):c.12369C>T (p.Ser4123=)
NM_182914.3(SYNE2):c.12381+18C>G rs770009960
NM_182914.3(SYNE2):c.12382-14G>A
NM_182914.3(SYNE2):c.12382-4del
NM_182914.3(SYNE2):c.12492+13G>A
NM_182914.3(SYNE2):c.12492+13_12492+14dup
NM_182914.3(SYNE2):c.12492+9G>A rs765088214
NM_182914.3(SYNE2):c.12501T>C (p.Tyr4167=)
NM_182914.3(SYNE2):c.12603A>G (p.Thr4201=) rs1324146518
NM_182914.3(SYNE2):c.12609+14G>A
NM_182914.3(SYNE2):c.12610-15T>C
NM_182914.3(SYNE2):c.12610-4T>G rs1265912294
NM_182914.3(SYNE2):c.12639T>G (p.Thr4213=) rs908687663
NM_182914.3(SYNE2):c.12654C>T (p.Asp4218=)
NM_182914.3(SYNE2):c.12754C>T (p.Leu4252=)
NM_182914.3(SYNE2):c.12759A>G (p.Gln4253=)
NM_182914.3(SYNE2):c.12849A>T (p.Leu4283=)
NM_182914.3(SYNE2):c.12873C>G (p.Ala4291=)
NM_182914.3(SYNE2):c.1293+18A>G
NM_182914.3(SYNE2):c.1294-15T>C
NM_182914.3(SYNE2):c.1294-17G>A
NM_182914.3(SYNE2):c.1294-18T>C
NM_182914.3(SYNE2):c.12966G>A (p.Val4322=)
NM_182914.3(SYNE2):c.129A>T (p.Ser43=)
NM_182914.3(SYNE2):c.13023+11_13023+12insTC
NM_182914.3(SYNE2):c.13023+12C>T
NM_182914.3(SYNE2):c.13024-17T>C
NM_182914.3(SYNE2):c.13044A>G (p.Lys4348=) rs2153665812
NM_182914.3(SYNE2):c.13056A>G (p.Pro4352=) rs1595663147
NM_182914.3(SYNE2):c.13107T>C (p.Ile4369=)
NM_182914.3(SYNE2):c.13113T>C (p.Thr4371=) rs2153665864
NM_182914.3(SYNE2):c.13122A>G (p.Pro4374=)
NM_182914.3(SYNE2):c.13125A>G (p.Gln4375=)
NM_182914.3(SYNE2):c.1320T>C (p.His440=)
NM_182914.3(SYNE2):c.13263T>G (p.Thr4421=) rs1362104612
NM_182914.3(SYNE2):c.13280+20_13280+21del
NM_182914.3(SYNE2):c.13326G>A (p.Leu4442=)
NM_182914.3(SYNE2):c.13422+10T>C
NM_182914.3(SYNE2):c.13422+7C>A
NM_182914.3(SYNE2):c.13425T>A (p.Val4475=)
NM_182914.3(SYNE2):c.13554+16A>G
NM_182914.3(SYNE2):c.13554+18T>C
NM_182914.3(SYNE2):c.13555-12C>G rs1175752590
NM_182914.3(SYNE2):c.13566A>G (p.Thr4522=)
NM_182914.3(SYNE2):c.13575A>G (p.Ala4525=)
NM_182914.3(SYNE2):c.13614G>T (p.Leu4538=)
NM_182914.3(SYNE2):c.13644G>A (p.Glu4548=)
NM_182914.3(SYNE2):c.13649T>C (p.Met4550Thr)
NM_182914.3(SYNE2):c.13683T>A (p.Gly4561=) rs1342620395
NM_182914.3(SYNE2):c.13704C>T (p.Tyr4568=)
NM_182914.3(SYNE2):c.13707+10T>G rs61987277
NM_182914.3(SYNE2):c.13707+16C>T
NM_182914.3(SYNE2):c.13707+19G>A
NM_182914.3(SYNE2):c.13708-13C>G rs146315545
NM_182914.3(SYNE2):c.13708-14C>T
NM_182914.3(SYNE2):c.1377A>G (p.Pro459=)
NM_182914.3(SYNE2):c.13845G>A (p.Glu4615=)
NM_182914.3(SYNE2):c.13887A>G (p.Lys4629=)
NM_182914.3(SYNE2):c.13896C>T (p.Leu4632=) rs766703027
NM_182914.3(SYNE2):c.13917+11G>A
NM_182914.3(SYNE2):c.13918-2A>G
NM_182914.3(SYNE2):c.13918-8T>C rs2153675582
NM_182914.3(SYNE2):c.13947C>T (p.Leu4649=)
NM_182914.3(SYNE2):c.14019+11C>G
NM_182914.3(SYNE2):c.14031A>G (p.Ala4677=)
NM_182914.3(SYNE2):c.1406+15C>T
NM_182914.3(SYNE2):c.14061C>T (p.Ser4687=)
NM_182914.3(SYNE2):c.1407-13C>T
NM_182914.3(SYNE2):c.14074C>T (p.Leu4692=)
NM_182914.3(SYNE2):c.141+12A>C
NM_182914.3(SYNE2):c.141+18A>G
NM_182914.3(SYNE2):c.14112T>G (p.Ala4704=) rs1595719768
NM_182914.3(SYNE2):c.14121G>A (p.Gln4707=)
NM_182914.3(SYNE2):c.14133A>G (p.Lys4711=)
NM_182914.3(SYNE2):c.14139+20A>G rs1185932205
NM_182914.3(SYNE2):c.14153G>C (p.Ser4718Thr) rs374716181
NM_182914.3(SYNE2):c.14190C>T (p.Leu4730=)
NM_182914.3(SYNE2):c.14202C>T (p.Phe4734=)
NM_182914.3(SYNE2):c.14259T>C (p.Ile4753=)
NM_182914.3(SYNE2):c.14340+12A>G
NM_182914.3(SYNE2):c.14340+13C>A
NM_182914.3(SYNE2):c.14340+7C>G
NM_182914.3(SYNE2):c.14341-11C>A rs369669657
NM_182914.3(SYNE2):c.14341-13C>G rs2153681733
NM_182914.3(SYNE2):c.14341-16T>C
NM_182914.3(SYNE2):c.14496G>A (p.Lys4832=)
NM_182914.3(SYNE2):c.14514+19C>T
NM_182914.3(SYNE2):c.14514+20G>C
NM_182914.3(SYNE2):c.14596T>C (p.Leu4866=)
NM_182914.3(SYNE2):c.14598G>A (p.Leu4866=)
NM_182914.3(SYNE2):c.14601G>A (p.Val4867=) rs1595748002
NM_182914.3(SYNE2):c.14637A>C (p.Ser4879=)
NM_182914.3(SYNE2):c.14646+20G>T
NM_182914.3(SYNE2):c.14655A>G (p.Lys4885=) rs1595771604
NM_182914.3(SYNE2):c.14667T>C (p.Gly4889=) rs576736744
NM_182914.3(SYNE2):c.14676C>T (p.His4892=) rs375987275
NM_182914.3(SYNE2):c.147T>C (p.Thr49=)
NM_182914.3(SYNE2):c.14832G>A (p.Lys4944=) rs1419168476
NM_182914.3(SYNE2):c.14843+13G>C
NM_182914.3(SYNE2):c.14844-5G>A rs17825431
NM_182914.3(SYNE2):c.14847T>C (p.Tyr4949=) rs779131429
NM_182914.3(SYNE2):c.14976+16A>G
NM_182914.3(SYNE2):c.14977-9C>G
NM_182914.3(SYNE2):c.15129A>G (p.Gln5043=)
NM_182914.3(SYNE2):c.15175T>C (p.Leu5059=)
NM_182914.3(SYNE2):c.15237T>A (p.Thr5079=) rs754139822
NM_182914.3(SYNE2):c.15307-9T>G
NM_182914.3(SYNE2):c.15351C>T (p.Phe5117=) rs569092674
NM_182914.3(SYNE2):c.1539A>G (p.Glu513=) rs1596005871
NM_182914.3(SYNE2):c.15450G>A (p.Gln5150=)
NM_182914.3(SYNE2):c.15483+12C>T
NM_182914.3(SYNE2):c.15483+13G>A rs369303929
NM_182914.3(SYNE2):c.15484-14_15484-13del
NM_182914.3(SYNE2):c.15495A>G (p.Leu5165=) rs1555509783
NM_182914.3(SYNE2):c.15543C>A (p.Ile5181=)
NM_182914.3(SYNE2):c.15609C>T (p.Ile5203=)
NM_182914.3(SYNE2):c.15621G>A (p.Lys5207=)
NM_182914.3(SYNE2):c.15624G>T (p.Leu5208=) rs371688900
NM_182914.3(SYNE2):c.15627C>T (p.Leu5209=)
NM_182914.3(SYNE2):c.15657T>G (p.Leu5219=)
NM_182914.3(SYNE2):c.1570-8C>T
NM_182914.3(SYNE2):c.15717G>A (p.Gly5239=) rs770064129
NM_182914.3(SYNE2):c.15774A>G (p.Arg5258=) rs1595869914
NM_182914.3(SYNE2):c.15786C>T (p.Leu5262=)
NM_182914.3(SYNE2):c.15792+16del
NM_182914.3(SYNE2):c.15918G>C (p.Val5306=) rs767882664
NM_182914.3(SYNE2):c.15963+12A>G
NM_182914.3(SYNE2):c.15964-11G>C
NM_182914.3(SYNE2):c.15964-19T>G
NM_182914.3(SYNE2):c.15964-9_15964-8del rs1205823094
NM_182914.3(SYNE2):c.15990T>C (p.Ser5330=)
NM_182914.3(SYNE2):c.15T>C (p.Pro5=) rs2153351102
NM_182914.3(SYNE2):c.16095-12T>C rs1461495571
NM_182914.3(SYNE2):c.16095-13G>A
NM_182914.3(SYNE2):c.16095-13G>C
NM_182914.3(SYNE2):c.16095-14C>G
NM_182914.3(SYNE2):c.16095-14C>T rs748585321
NM_182914.3(SYNE2):c.16116C>T (p.Ala5372=)
NM_182914.3(SYNE2):c.16261C>T (p.Leu5421=) rs1477350865
NM_182914.3(SYNE2):c.16290G>A (p.Gln5430=)
NM_182914.3(SYNE2):c.16300-20C>T
NM_182914.3(SYNE2):c.16302G>A (p.Glu5434=)
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del) rs751691446
NM_182914.3(SYNE2):c.16368C>G (p.Leu5456=) rs1395361762
NM_182914.3(SYNE2):c.16377C>T (p.Pro5459=)
NM_182914.3(SYNE2):c.16392C>T (p.Thr5464=)
NM_182914.3(SYNE2):c.16410C>T (p.Gly5470=)
NM_182914.3(SYNE2):c.16413C>G (p.Pro5471=) rs2153717931
NM_182914.3(SYNE2):c.16437T>C (p.Ala5479=)
NM_182914.3(SYNE2):c.16479+15T>G rs80199180
NM_182914.3(SYNE2):c.16480-12C>A
NM_182914.3(SYNE2):c.16488C>T (p.Leu5496=)
NM_182914.3(SYNE2):c.1649-4G>A rs768330126
NM_182914.3(SYNE2):c.16563T>C (p.Asp5521=) rs2153721081
NM_182914.3(SYNE2):c.16572C>T (p.His5524=) rs746969779
NM_182914.3(SYNE2):c.16606-7A>T rs778409368
NM_182914.3(SYNE2):c.16608T>C (p.Asn5536=) rs2153722940
NM_182914.3(SYNE2):c.16701G>T (p.Thr5567=) rs200950664
NM_182914.3(SYNE2):c.16731G>A (p.Arg5577=)
NM_182914.3(SYNE2):c.16746A>C (p.Ala5582=) rs1056022982
NM_182914.3(SYNE2):c.16760+12C>G rs1269780296
NM_182914.3(SYNE2):c.16761-6T>C
NM_182914.3(SYNE2):c.16791G>A (p.Lys5597=) rs2153723202
NM_182914.3(SYNE2):c.16842A>G (p.Glu5614=)
NM_182914.3(SYNE2):c.16893G>A (p.Gln5631=) rs2153723304
NM_182914.3(SYNE2):c.17007A>G (p.Glu5669=)
NM_182914.3(SYNE2):c.17034G>A (p.Thr5678=)
NM_182914.3(SYNE2):c.17055C>T (p.Val5685=)
NM_182914.3(SYNE2):c.17100G>A (p.Arg5700=) rs1249953280
NM_182914.3(SYNE2):c.17175A>C (p.Ala5725=)
NM_182914.3(SYNE2):c.17235+15G>A
NM_182914.3(SYNE2):c.17236-14_17236-11del
NM_182914.3(SYNE2):c.17236-6T>C
NM_182914.3(SYNE2):c.17295A>G (p.Gly5765=) rs2153731238
NM_182914.3(SYNE2):c.17322G>C (p.Leu5774=) rs2098427101
NM_182914.3(SYNE2):c.17352C>A (p.Ile5784=) rs371404598
NM_182914.3(SYNE2):c.1737C>T (p.Ser579=)
NM_182914.3(SYNE2):c.17415C>T (p.Phe5805=)
NM_182914.3(SYNE2):c.17430+13C>T
NM_182914.3(SYNE2):c.17430+18T>G rs2153731336
NM_182914.3(SYNE2):c.1746A>G (p.Gln582=) rs2096582034
NM_182914.3(SYNE2):c.17523C>T (p.His5841=) rs202141038
NM_182914.3(SYNE2):c.1753C>T (p.Leu585=)
NM_182914.3(SYNE2):c.17556+16C>T
NM_182914.3(SYNE2):c.17557-17_17557-15del rs781761095
NM_182914.3(SYNE2):c.17557-4G>T
NM_182914.3(SYNE2):c.17618C>A (p.Ala5873Glu) rs563482043
NM_182914.3(SYNE2):c.17640C>T (p.Leu5880=)
NM_182914.3(SYNE2):c.17685C>T (p.His5895=) rs1596080039
NM_182914.3(SYNE2):c.17712+10C>G rs2139503640
NM_182914.3(SYNE2):c.17713-4G>T
NM_182914.3(SYNE2):c.17730G>A (p.Gln5910=) rs2139570393
NM_182914.3(SYNE2):c.17751T>C (p.Asn5917=) rs898812637
NM_182914.3(SYNE2):c.17754A>T (p.Thr5918=)
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=) rs572217007
NM_182914.3(SYNE2):c.17814C>T (p.Asn5938=)
NM_182914.3(SYNE2):c.17877C>T (p.Cys5959=) rs764653982
NM_182914.3(SYNE2):c.17964A>G (p.Arg5988=)
NM_182914.3(SYNE2):c.17976C>T (p.Ile5992=)
NM_182914.3(SYNE2):c.18030C>T (p.Ile6010=)
NM_182914.3(SYNE2):c.18038+15A>G
NM_182914.3(SYNE2):c.18038+16A>G
NM_182914.3(SYNE2):c.18039-16C>A
NM_182914.3(SYNE2):c.18039-4G>A
NM_182914.3(SYNE2):c.18039-6G>A
NM_182914.3(SYNE2):c.18105C>T (p.Arg6035=)
NM_182914.3(SYNE2):c.18189C>T (p.Leu6063=)
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.3(SYNE2):c.18201+11C>T
NM_182914.3(SYNE2):c.18202-10G>A rs754429236
NM_182914.3(SYNE2):c.18202-6T>C
NM_182914.3(SYNE2):c.18271C>T (p.Leu6091=)
NM_182914.3(SYNE2):c.1837-20G>A
NM_182914.3(SYNE2):c.1837-5T>C
NM_182914.3(SYNE2):c.18389+8C>T rs748398363
NM_182914.3(SYNE2):c.18417G>A (p.Gln6139=) rs371461730
NM_182914.3(SYNE2):c.18464C>T (p.Ala6155Val)
NM_182914.3(SYNE2):c.18495A>G (p.Ser6165=)
NM_182914.3(SYNE2):c.18528G>C (p.Leu6176=)
NM_182914.3(SYNE2):c.18541-4G>A rs777089980
NM_182914.3(SYNE2):c.18541-5T>C
NM_182914.3(SYNE2):c.18541-6A>G
NM_182914.3(SYNE2):c.18576G>A (p.Gln6192=)
NM_182914.3(SYNE2):c.18601C>A (p.Arg6201=) rs151081811
NM_182914.3(SYNE2):c.18606G>T (p.Arg6202=)
NM_182914.3(SYNE2):c.18621C>T (p.Asn6207=) rs929148063
NM_182914.3(SYNE2):c.18705C>G (p.Ala6235=)
NM_182914.3(SYNE2):c.18724-11C>A
NM_182914.3(SYNE2):c.18724-6T>C rs2140199846
NM_182914.3(SYNE2):c.1881T>A (p.Thr627=)
NM_182914.3(SYNE2):c.18837C>T (p.Ala6279=)
NM_182914.3(SYNE2):c.18838G>A (p.Asp6280Asn)
NM_182914.3(SYNE2):c.18862-13C>T
NM_182914.3(SYNE2):c.18951G>A (p.Leu6317=)
NM_182914.3(SYNE2):c.19002G>A (p.Gln6334=)
NM_182914.3(SYNE2):c.19167T>C (p.Ser6389=) rs747527253
NM_182914.3(SYNE2):c.19179G>C (p.Leu6393=) rs2140246772
NM_182914.3(SYNE2):c.19200G>A (p.Gly6400=) rs369292348
NM_182914.3(SYNE2):c.19233C>T (p.Ser6411=)
NM_182914.3(SYNE2):c.19275G>A (p.Val6425=) rs772092387
NM_182914.3(SYNE2):c.19275G>C (p.Val6425=) rs772092387
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=) rs772092387
NM_182914.3(SYNE2):c.19296A>G (p.Glu6432=)
NM_182914.3(SYNE2):c.19395G>A (p.Ala6465=)
NM_182914.3(SYNE2):c.19402+11G>A
NM_182914.3(SYNE2):c.19402+13C>T
NM_182914.3(SYNE2):c.19402+14del rs754629074
NM_182914.3(SYNE2):c.19402+20T>C
NM_182914.3(SYNE2):c.19402+7C>G rs1435729964
NM_182914.3(SYNE2):c.19403-17G>T
NM_182914.3(SYNE2):c.19416G>A (p.Ser6472=)
NM_182914.3(SYNE2):c.19419T>C (p.Asp6473=) rs1222194629
NM_182914.3(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
NM_182914.3(SYNE2):c.19512T>C (p.Pro6504=) rs945745890
NM_182914.3(SYNE2):c.19515G>A (p.Ala6505=)
NM_182914.3(SYNE2):c.19524C>A (p.Thr6508=)
NM_182914.3(SYNE2):c.19524C>T (p.Thr6508=)
NM_182914.3(SYNE2):c.19542+10_19542+11delinsGT
NM_182914.3(SYNE2):c.19560T>C (p.Pro6520=) rs2140328414
NM_182914.3(SYNE2):c.19620A>G (p.Glu6540=) rs755594887
NM_182914.3(SYNE2):c.19641C>T (p.Ile6547=)
NM_182914.3(SYNE2):c.19644A>G (p.Thr6548=)
NM_182914.3(SYNE2):c.19658-16G>A
NM_182914.3(SYNE2):c.19658-4C>A
NM_182914.3(SYNE2):c.19701C>T (p.His6567=) rs1432528248
NM_182914.3(SYNE2):c.19734G>A (p.Gln6578=) rs1390602240
NM_182914.3(SYNE2):c.19860+16G>C
NM_182914.3(SYNE2):c.19894T>C (p.Leu6632=)
NM_182914.3(SYNE2):c.19902C>T (p.Val6634=) rs1281358104
NM_182914.3(SYNE2):c.19914G>C (p.Val6638=)
NM_182914.3(SYNE2):c.19944C>T (p.Ser6648=) rs1360220384
NM_182914.3(SYNE2):c.19947C>G (p.Pro6649=)
NM_182914.3(SYNE2):c.19947C>T (p.Pro6649=)
NM_182914.3(SYNE2):c.19974C>G (p.Leu6658=)
NM_182914.3(SYNE2):c.2001+8C>A rs1594650966
NM_182914.3(SYNE2):c.2001+8C>G
NM_182914.3(SYNE2):c.20010C>T (p.Gly6670=) rs748703042
NM_182914.3(SYNE2):c.20016G>A (p.Val6672=) rs2140383197
NM_182914.3(SYNE2):c.2002-12T>G
NM_182914.3(SYNE2):c.20031G>A (p.Gly6677=)
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala) rs140676416
NM_182914.3(SYNE2):c.20043G>A (p.Gln6681=) rs938735293
NM_182914.3(SYNE2):c.20046G>A (p.Ser6682=)
NM_182914.3(SYNE2):c.20061+10C>G rs2098689996
NM_182914.3(SYNE2):c.20116C>A (p.Arg6706=)
NM_182914.3(SYNE2):c.20160G>T (p.Arg6720=)
NM_182914.3(SYNE2):c.20191-8G>C rs1596324923
NM_182914.3(SYNE2):c.20253C>T (p.Asn6751=) rs867115050
NM_182914.3(SYNE2):c.20338C>A (p.Arg6780=) rs138437515
NM_182914.3(SYNE2):c.20382+13G>A
NM_182914.3(SYNE2):c.20403C>A (p.Pro6801=)
NM_182914.3(SYNE2):c.20469+15C>G rs374908266
NM_182914.3(SYNE2):c.20469+8G>T
NM_182914.3(SYNE2):c.20470-40_20470-18del rs2140501772
NM_182914.3(SYNE2):c.20470-7C>G rs1555563835
NM_182914.3(SYNE2):c.20472C>T (p.Phe6824=) rs1567706037
NM_182914.3(SYNE2):c.20516+18T>C rs2098712580
NM_182914.3(SYNE2):c.20516+18_20516+21dup rs2140505248
NM_182914.3(SYNE2):c.20517-12C>T
NM_182914.3(SYNE2):c.20517-15C>G
NM_182914.3(SYNE2):c.20517-19C>A rs375356310
NM_182914.3(SYNE2):c.20551C>G (p.Leu6851Val) rs564532190
NM_182914.3(SYNE2):c.20553C>T (p.Leu6851=)
NM_182914.3(SYNE2):c.20598G>A (p.Leu6866=) rs369949914
NM_182914.3(SYNE2):c.20598G>C (p.Leu6866=) rs369949914
NM_182914.3(SYNE2):c.20610C>T (p.Leu6870=)
NM_182914.3(SYNE2):c.20634C>T (p.Ser6878=) rs143162390
NM_182914.3(SYNE2):c.20718C>T (p.Pro6906=) rs547101639
NM_182914.3(SYNE2):c.207T>C (p.Asp69=) rs2153417448
NM_182914.3(SYNE2):c.2133T>C (p.Asn711=)
NM_182914.3(SYNE2):c.2152-11G>A
NM_182914.3(SYNE2):c.2304A>G (p.Glu768=)
NM_182914.3(SYNE2):c.2314-10G>A
NM_182914.3(SYNE2):c.237+20C>A
NM_182914.3(SYNE2):c.2421T>A (p.Val807=)
NM_182914.3(SYNE2):c.2448T>A (p.Ile816=) rs1594712638
NM_182914.3(SYNE2):c.2472+11A>G
NM_182914.3(SYNE2):c.2472+2TC[2] rs768588312
NM_182914.3(SYNE2):c.2472+8T>C rs757397771
NM_182914.3(SYNE2):c.2475C>A (p.Ile825=)
NM_182914.3(SYNE2):c.2496A>G (p.Ala832=)
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly) rs200503488
NM_182914.3(SYNE2):c.2499G>T (p.Ala833=) rs761478156
NM_182914.3(SYNE2):c.2595G>A (p.Gln865=)
NM_182914.3(SYNE2):c.2598G>A (p.Gln866=) rs2153485917
NM_182914.3(SYNE2):c.2622C>T (p.Pro874=)
NM_182914.3(SYNE2):c.2652A>G (p.Ala884=)
NM_182914.3(SYNE2):c.2664T>C (p.Ser888=) rs2153490426
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852
NM_182914.3(SYNE2):c.2724T>C (p.Thr908=)
NM_182914.3(SYNE2):c.2782-5T>C
NM_182914.3(SYNE2):c.2782-5dup rs750650701
NM_182914.3(SYNE2):c.2874G>A (p.Lys958=)
NM_182914.3(SYNE2):c.288T>C (p.His96=)
NM_182914.3(SYNE2):c.2940+8A>G rs1016739113
NM_182914.3(SYNE2):c.2941-20T>C
NM_182914.3(SYNE2):c.297A>G (p.Thr99=)
NM_182914.3(SYNE2):c.2982C>T (p.His994=) rs1278857159
NM_182914.3(SYNE2):c.3004C>T (p.Leu1002=)
NM_182914.3(SYNE2):c.3039A>G (p.Gln1013=) rs765896679
NM_182914.3(SYNE2):c.315+20A>C rs2153417624
NM_182914.3(SYNE2):c.3150C>T (p.Asn1050=)
NM_182914.3(SYNE2):c.3152+9T>C rs2096719929
NM_182914.3(SYNE2):c.3153-16T>C
NM_182914.3(SYNE2):c.3153-19A>G
NM_182914.3(SYNE2):c.3153-20C>T
NM_182914.3(SYNE2):c.3153-9C>G rs1295049768
NM_182914.3(SYNE2):c.316-11T>C rs749478491
NM_182914.3(SYNE2):c.3234A>C (p.Ser1078=)
NM_182914.3(SYNE2):c.3244-7C>T rs766912711
NM_182914.3(SYNE2):c.3279A>G (p.Ser1093=)
NM_182914.3(SYNE2):c.3294G>A (p.Leu1098=) rs766305428
NM_182914.3(SYNE2):c.3354-13T>G
NM_182914.3(SYNE2):c.3381A>G (p.Glu1127=) rs2153500255
NM_182914.3(SYNE2):c.339T>A (p.Val113=)
NM_182914.3(SYNE2):c.3456G>T (p.Leu1152=)
NM_182914.3(SYNE2):c.3471A>T (p.Thr1157=)
NM_182914.3(SYNE2):c.3480+9del rs754100176
NM_182914.3(SYNE2):c.3481-17T>A
NM_182914.3(SYNE2):c.3558C>T (p.Asp1186=)
NM_182914.3(SYNE2):c.3591C>T (p.Asp1197=)
NM_182914.3(SYNE2):c.3645A>G (p.Glu1215=)
NM_182914.3(SYNE2):c.3696TCT[1] (p.Leu1234del) rs777263472
NM_182914.3(SYNE2):c.3720T>C (p.Pro1240=)
NM_182914.3(SYNE2):c.3786+7A>G rs778686599
NM_182914.3(SYNE2):c.381A>G (p.Leu127=) rs2153417791
NM_182914.3(SYNE2):c.3846C>T (p.Gly1282=)
NM_182914.3(SYNE2):c.3855A>T (p.Val1285=) rs371327530
NM_182914.3(SYNE2):c.3882A>G (p.Leu1294=)
NM_182914.3(SYNE2):c.4023C>T (p.Pro1341=)
NM_182914.3(SYNE2):c.402C>T (p.His134=) rs2153417811
NM_182914.3(SYNE2):c.4032C>T (p.Asp1344=)
NM_182914.3(SYNE2):c.408+15G>A
NM_182914.3(SYNE2):c.409-16A>T rs1358509460
NM_182914.3(SYNE2):c.4119G>A (p.Lys1373=)
NM_182914.3(SYNE2):c.4194C>G (p.Ser1398=)
NM_182914.3(SYNE2):c.4248T>C (p.Tyr1416=)
NM_182914.3(SYNE2):c.4260G>A (p.Glu1420=) rs2153506009
NM_182914.3(SYNE2):c.4338G>C (p.Val1446=)
NM_182914.3(SYNE2):c.4397+13C>T
NM_182914.3(SYNE2):c.4398-11T>A rs2096801796
NM_182914.3(SYNE2):c.4398-8T>A
NM_182914.3(SYNE2):c.4440T>C (p.Tyr1480=)
NM_182914.3(SYNE2):c.4512C>T (p.Thr1504=) rs935097653
NM_182914.3(SYNE2):c.4572C>T (p.Thr1524=)
NM_182914.3(SYNE2):c.4577+15dup
NM_182914.3(SYNE2):c.4578-8A>G rs1315906572
NM_182914.3(SYNE2):c.4617A>G (p.Gln1539=) rs2153516799
NM_182914.3(SYNE2):c.4647T>A (p.Thr1549=)
NM_182914.3(SYNE2):c.4728+14C>T
NM_182914.3(SYNE2):c.4728+16A>C
NM_182914.3(SYNE2):c.4728+16A>G
NM_182914.3(SYNE2):c.4729-15A>G
NM_182914.3(SYNE2):c.4729-15A>T
NM_182914.3(SYNE2):c.474G>C (p.Val158=)
NM_182914.3(SYNE2):c.4752T>C (p.Phe1584=) rs377521714
NM_182914.3(SYNE2):c.4791C>T (p.Val1597=)
NM_182914.3(SYNE2):c.4803A>T (p.Leu1601=)
NM_182914.3(SYNE2):c.4806A>G (p.Gln1602=)
NM_182914.3(SYNE2):c.4839G>A (p.Glu1613=) rs751067571
NM_182914.3(SYNE2):c.4888-7A>G rs2096903178
NM_182914.3(SYNE2):c.489T>C (p.Pro163=) rs2153430559
NM_182914.3(SYNE2):c.4941G>A (p.Leu1647=)
NM_182914.3(SYNE2):c.4971C>A (p.Val1657=) rs2153528215
NM_182914.3(SYNE2):c.4992G>A (p.Lys1664=) rs367993417
NM_182914.3(SYNE2):c.5010A>G (p.Glu1670=) rs2153528258
NM_182914.3(SYNE2):c.5040A>G (p.Glu1680=)
NM_182914.3(SYNE2):c.5208A>C (p.Gly1736=)
NM_182914.3(SYNE2):c.5221C>T (p.His1741Tyr)
NM_182914.3(SYNE2):c.5226A>G (p.Ala1742=)
NM_182914.3(SYNE2):c.5238C>T (p.Ser1746=)
NM_182914.3(SYNE2):c.5298C>T (p.Ser1766=) rs1216620814
NM_182914.3(SYNE2):c.5301C>T (p.Leu1767=)
NM_182914.3(SYNE2):c.5316T>G (p.Ser1772=)
NM_182914.3(SYNE2):c.5352+9G>A
NM_182914.3(SYNE2):c.5478T>C (p.Asn1826=)
NM_182914.3(SYNE2):c.5499A>G (p.Gln1833=)
NM_182914.3(SYNE2):c.54C>T (p.Ile18=)
NM_182914.3(SYNE2):c.5511T>G (p.Ser1837=)
NM_182914.3(SYNE2):c.5524+10A>G
NM_182914.3(SYNE2):c.5524+12A>G rs2153533933
NM_182914.3(SYNE2):c.5525-12T>C
NM_182914.3(SYNE2):c.5525-7C>T
NM_182914.3(SYNE2):c.5535G>A (p.Lys1845=) rs753226338
NM_182914.3(SYNE2):c.5637+15T>C
NM_182914.3(SYNE2):c.5637+8AT[2]
NM_182914.3(SYNE2):c.5766C>T (p.Phe1922=)
NM_182914.3(SYNE2):c.5840+10A>G rs751855197
NM_182914.3(SYNE2):c.5840+16G>A rs1359053735
NM_182914.3(SYNE2):c.5841-17G>C rs376253496
NM_182914.3(SYNE2):c.5841-8T>C
NM_182914.3(SYNE2):c.590+15A>G
NM_182914.3(SYNE2):c.5906_5907inv (p.Met1969Thr)
NM_182914.3(SYNE2):c.5943A>G (p.Gln1981=) rs2153537897
NM_182914.3(SYNE2):c.5967G>A (p.Gln1989=) rs1367701552
NM_182914.3(SYNE2):c.6012G>T (p.Gly2004=) rs2096968280
NM_182914.3(SYNE2):c.6021A>G (p.Glu2007=) rs554969084
NM_182914.3(SYNE2):c.6060T>C (p.Asp2020=)
NM_182914.3(SYNE2):c.6165T>C (p.His2055=)
NM_182914.3(SYNE2):c.6210C>T (p.Ser2070=)
NM_182914.3(SYNE2):c.6225A>G (p.Pro2075=) rs773319758
NM_182914.3(SYNE2):c.6297C>T (p.Thr2099=) rs2153539753
NM_182914.3(SYNE2):c.6300C>T (p.Ile2100=)
NM_182914.3(SYNE2):c.6327C>T (p.Ala2109=) rs778614480
NM_182914.3(SYNE2):c.6330G>A (p.Pro2110=) rs779101206
NM_182914.3(SYNE2):c.633A>G (p.Arg211=)
NM_182914.3(SYNE2):c.6405-15T>C
NM_182914.3(SYNE2):c.6405-9G>C
NM_182914.3(SYNE2):c.6424C>T (p.Leu2142=)
NM_182914.3(SYNE2):c.6516A>G (p.Gln2172=)
NM_182914.3(SYNE2):c.6599A>G (p.Lys2200Arg) rs551801857
NM_182914.3(SYNE2):c.6654C>T (p.Phe2218=) rs2153541094
NM_182914.3(SYNE2):c.66T>C (p.His22=)
NM_182914.3(SYNE2):c.6714+18A>G
NM_182914.3(SYNE2):c.6715-13G>T
NM_182914.3(SYNE2):c.672A>G (p.Arg224=)
NM_182914.3(SYNE2):c.6732G>A (p.Leu2244=) rs1442241383
NM_182914.3(SYNE2):c.6741C>T (p.His2247=)
NM_182914.3(SYNE2):c.6879+17A>G
NM_182914.3(SYNE2):c.6879+20C>T
NM_182914.3(SYNE2):c.6880-10C>T rs2097030118
NM_182914.3(SYNE2):c.6880-4G>T rs776756586
NM_182914.3(SYNE2):c.6916T>C (p.Leu2306=)
NM_182914.3(SYNE2):c.6A>G (p.Ala2=)
NM_182914.3(SYNE2):c.7010G>A (p.Cys2337Tyr) rs762996751
NM_182914.3(SYNE2):c.7014A>G (p.Lys2338=)
NM_182914.3(SYNE2):c.7023T>C (p.Asp2341=) rs2153545532
NM_182914.3(SYNE2):c.7024T>C (p.Leu2342=)
NM_182914.3(SYNE2):c.7074C>T (p.Asn2358=)
NM_182914.3(SYNE2):c.7185A>T (p.Ala2395=)
NM_182914.3(SYNE2):c.7194G>A (p.Lys2398=)
NM_182914.3(SYNE2):c.7214T>A (p.Ile2405Lys)
NM_182914.3(SYNE2):c.7257T>G (p.Leu2419=)
NM_182914.3(SYNE2):c.7299G>A (p.Glu2433=)
NM_182914.3(SYNE2):c.7377+11A>G
NM_182914.3(SYNE2):c.7378-17G>T
NM_182914.3(SYNE2):c.7378-19C>G
NM_182914.3(SYNE2):c.7407A>G (p.Lys2469=)
NM_182914.3(SYNE2):c.7487A>G (p.Tyr2496Cys) rs536644359
NM_182914.3(SYNE2):c.7491G>A (p.Ser2497=) rs375202949
NM_182914.3(SYNE2):c.7491G>C (p.Ser2497=)
NM_182914.3(SYNE2):c.750A>G (p.Glu250=)
NM_182914.3(SYNE2):c.753A>G (p.Gln251=)
NM_182914.3(SYNE2):c.7581A>G (p.Glu2527=)
NM_182914.3(SYNE2):c.7617G>A (p.Leu2539=) rs200359168
NM_182914.3(SYNE2):c.7644-10del
NM_182914.3(SYNE2):c.7695A>T (p.Ala2565=)
NM_182914.3(SYNE2):c.7716T>C (p.Asp2572=)
NM_182914.3(SYNE2):c.7731G>A (p.Leu2577=)
NM_182914.3(SYNE2):c.7812A>G (p.Glu2604=) rs2153576146
NM_182914.3(SYNE2):c.7878T>C (p.Asp2626=)
NM_182914.3(SYNE2):c.788-7C>G rs769211907
NM_182914.3(SYNE2):c.7890C>T (p.Thr2630=)
NM_182914.3(SYNE2):c.7914T>G (p.Thr2638=)
NM_182914.3(SYNE2):c.7947A>G (p.Leu2649=)
NM_182914.3(SYNE2):c.80-11T>G
NM_182914.3(SYNE2):c.80-14T>A
NM_182914.3(SYNE2):c.80-4A>G rs774804800
NM_182914.3(SYNE2):c.8118A>T (p.Ile2706=)
NM_182914.3(SYNE2):c.8146T>C (p.Leu2716=) rs1353602939
NM_182914.3(SYNE2):c.8352G>A (p.Ser2784=)
NM_182914.3(SYNE2):c.8364G>A (p.Glu2788=)
NM_182914.3(SYNE2):c.8403_8404inv (p.Ser2802Gly)
NM_182914.3(SYNE2):c.8434C>A (p.Arg2812=)
NM_182914.3(SYNE2):c.8435G>A (p.Arg2812Gln) rs553109676
NM_182914.3(SYNE2):c.8442A>G (p.Gln2814=)
NM_182914.3(SYNE2):c.844C>T (p.Leu282=) rs1595894315
NM_182914.3(SYNE2):c.8655A>G (p.Gln2885=)
NM_182914.3(SYNE2):c.8712G>A (p.Glu2904=)
NM_182914.3(SYNE2):c.8733A>G (p.Leu2911=)
NM_182914.3(SYNE2):c.8799T>C (p.Asn2933=) rs2097236513
NM_182914.3(SYNE2):c.8820C>T (p.His2940=) rs1177872028
NM_182914.3(SYNE2):c.8844C>T (p.Phe2948=)
NM_182914.3(SYNE2):c.8862G>A (p.Ala2954=) rs373930498
NM_182914.3(SYNE2):c.888+10C>A
NM_182914.3(SYNE2):c.889-9A>G
NM_182914.3(SYNE2):c.8902T>C (p.Leu2968=)
NM_182914.3(SYNE2):c.8931T>C (p.Val2977=) rs1555453730
NM_182914.3(SYNE2):c.9144T>C (p.Tyr3048=) rs1331113396
NM_182914.3(SYNE2):c.9183A>G (p.Gln3061=)
NM_182914.3(SYNE2):c.9231G>C (p.Pro3077=) rs199659722
NM_182914.3(SYNE2):c.9330C>A (p.Thr3110=)
NM_182914.3(SYNE2):c.9423A>G (p.Val3141=)
NM_182914.3(SYNE2):c.9438A>G (p.Pro3146=)
NM_182914.3(SYNE2):c.9516A>G (p.Leu3172=)
NM_182914.3(SYNE2):c.9519G>A (p.Gln3173=) rs779254549
NM_182914.3(SYNE2):c.9552T>C (p.His3184=) rs2153577571
NM_182914.3(SYNE2):c.9573T>C (p.Asn3191=) rs2097243006
NM_182914.3(SYNE2):c.9633T>C (p.Ala3211=) rs1335670113
NM_182914.3(SYNE2):c.9669G>A (p.Ala3223=)
NM_182914.3(SYNE2):c.9744+18T>G
NM_182914.3(SYNE2):c.9745-11C>T
NM_182914.3(SYNE2):c.9768A>G (p.Glu3256=) rs2153580472
NM_182914.3(SYNE2):c.9789A>G (p.Glu3263=) rs1202584954
NM_182914.3(SYNE2):c.9816C>T (p.Ile3272=)
NM_182914.3(SYNE2):c.9870A>G (p.Glu3290=)
NM_182914.3(SYNE2):c.990+11T>C
NM_182914.3(SYNE2):c.991-16A>T
NM_182914.3(SYNE2):c.9926A>T (p.His3309Leu) rs8010699
NM_182914.3(SYNE2):c.9939C>T (p.Leu3313=)
NM_182914.3(SYNE2):c.9979C>T (p.Leu3327=)

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