ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 1897
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HGVS dbSNP gnomAD frequency
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.7483G>A (p.Gly2495Arg) rs201036334 0.00103
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala) rs146977539 0.00076
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp) rs142169651 0.00070
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_182914.3(SYNE2):c.8003T>G (p.Leu2668Trp) rs143558316 0.00056
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822 0.00051
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218 0.00043
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149 0.00042
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00042
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.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_182914.3(SYNE2):c.*315C>T rs183982306 0.00034
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val) rs189676187 0.00032
NM_182914.3(SYNE2):c.13570G>A (p.Glu4524Lys) rs143646847 0.00031
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_182914.3(SYNE2):c.11047T>A (p.Ser3683Thr) rs199977941 0.00030
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His) rs142206385 0.00030
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439 0.00029
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr) rs200836164 0.00027
NM_182914.3(SYNE2):c.4738G>T (p.Val1580Phe) rs190340029 0.00027
NM_182914.3(SYNE2):c.10218G>T (p.Leu3406Phe) rs201421128 0.00026
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys) rs144702281 0.00023
NM_182914.3(SYNE2):c.13417C>T (p.Pro4473Ser) rs146894065 0.00022
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352 0.00022
NM_182914.3(SYNE2):c.9241C>T (p.Arg3081Trp) rs150085946 0.00022
NM_182914.3(SYNE2):c.19823A>T (p.Asp6608Val) rs372546949 0.00021
NM_182914.3(SYNE2):c.5915C>T (p.Pro1972Leu) rs113146258 0.00021
NM_182914.3(SYNE2):c.8632G>A (p.Glu2878Lys) rs61744386 0.00021
NM_182914.3(SYNE2):c.12377G>C (p.Ser4126Thr) rs113360430 0.00020
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His) rs538344879 0.00020
NM_182914.3(SYNE2):c.12370G>T (p.Val4124Leu) rs370255444 0.00019
NM_182914.3(SYNE2):c.15929T>C (p.Leu5310Ser) rs199976741 0.00019
NM_182914.3(SYNE2):c.20509G>A (p.Glu6837Lys) rs146398606 0.00019
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492 0.00019
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326 0.00019
NM_182914.3(SYNE2):c.*807G>A rs755864712 0.00018
NM_182914.3(SYNE2):c.10631G>T (p.Ser3544Ile) rs200109813 0.00018
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_182914.3(SYNE2):c.2425A>G (p.Thr809Ala) rs374684922 0.00018
NM_182914.3(SYNE2):c.14139+5G>A rs374778697 0.00017
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
NM_182914.3(SYNE2):c.5242G>A (p.Ala1748Thr) rs768694081 0.00017
NM_182914.3(SYNE2):c.3267T>G (p.Phe1089Leu) rs201858632 0.00016
NM_182914.3(SYNE2):c.6470T>C (p.Met2157Thr) rs377480048 0.00016
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met) rs373690979 0.00016
NM_182914.3(SYNE2):c.16640A>G (p.Asp5547Gly) rs150415189 0.00015
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222 0.00015
NM_182914.3(SYNE2):c.17423C>T (p.Thr5808Ile) rs139361264 0.00015
NM_182914.3(SYNE2):c.2827G>T (p.Asp943Tyr) rs543556397 0.00015
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val) rs199860789 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_182914.3(SYNE2):c.10988A>C (p.Glu3663Ala) rs369298370 0.00014
NM_182914.3(SYNE2):c.12302G>A (p.Arg4101Gln) rs372624638 0.00014
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met) rs568071525 0.00014
NM_182914.3(SYNE2):c.18304G>A (p.Glu6102Lys) rs560736067 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.17038C>T (p.Arg5680Trp) rs143377752 0.00013
NM_182914.3(SYNE2):c.18622C>T (p.Arg6208Cys) rs377305355 0.00013
NM_182914.3(SYNE2):c.20524G>C (p.Gly6842Arg) rs201538331 0.00013
NM_182914.3(SYNE2):c.13883T>C (p.Leu4628Pro) rs559503999 0.00012
NM_182914.3(SYNE2):c.14518T>C (p.Trp4840Arg) rs148323208 0.00012
NM_182914.3(SYNE2):c.15179C>T (p.Pro5060Leu) rs371146862 0.00012
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580 0.00012
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu) rs375497206 0.00012
NM_182914.3(SYNE2):c.10561G>A (p.Val3521Met) rs202224612 0.00011
NM_182914.3(SYNE2):c.13281-4A>G rs369446724 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.15719C>T (p.Ala5240Val) rs140863307 0.00011
NM_182914.3(SYNE2):c.18001G>A (p.Asp6001Asn) rs769737846 0.00011
NM_182914.3(SYNE2):c.19056+5G>A rs774990082 0.00011
NM_182914.3(SYNE2):c.20462G>A (p.Arg6821Gln) rs148791608 0.00011
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile) rs773841153 0.00011
NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln) rs202200597 0.00011
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn) rs145874555 0.00010
NM_182914.3(SYNE2):c.12381+6G>A rs781486571 0.00010
NM_182914.3(SYNE2):c.16753C>T (p.Arg5585Cys) rs370674900 0.00010
NM_182914.3(SYNE2):c.17653A>T (p.Met5885Leu) rs137866467 0.00010
NM_182914.3(SYNE2):c.18000C>A (p.Asn6000Lys) rs150002885 0.00010
NM_182914.3(SYNE2):c.3244-3T>C rs764351817 0.00010
NM_182914.3(SYNE2):c.7720T>A (p.Leu2574Ile) rs759148677 0.00010
NM_182914.3(SYNE2):c.10331C>T (p.Ser3444Leu) rs372338837 0.00009
NM_182914.3(SYNE2):c.1060C>T (p.Arg354Trp) rs374073818 0.00009
NM_182914.3(SYNE2):c.12656C>T (p.Ala4219Val) rs767658277 0.00009
NM_182914.3(SYNE2):c.14104C>A (p.Pro4702Thr) rs111880729 0.00009
NM_182914.3(SYNE2):c.14969A>G (p.Asn4990Ser) rs577518631 0.00009
NM_182914.3(SYNE2):c.16700C>T (p.Thr5567Met) rs527368157 0.00009
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp) rs761998546 0.00009
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His) rs367549881 0.00009
NM_182914.3(SYNE2):c.6011G>A (p.Gly2004Glu) rs771507854 0.00009
NM_182914.3(SYNE2):c.6056T>G (p.Met2019Arg) rs200404150 0.00009
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala) rs201838350 0.00009
NM_182914.3(SYNE2):c.7039G>T (p.Ala2347Ser) rs759251788 0.00009
NM_182914.3(SYNE2):c.907A>G (p.Met303Val) rs377535370 0.00009
NM_182914.3(SYNE2):c.10864G>C (p.Glu3622Gln) rs374132878 0.00008
NM_182914.3(SYNE2):c.11843T>C (p.Val3948Ala) rs372848864 0.00008
NM_182914.3(SYNE2):c.12437A>G (p.His4146Arg) rs375035375 0.00008
NM_182914.3(SYNE2):c.16127A>G (p.Gln5376Arg) rs753646712 0.00008
NM_182914.3(SYNE2):c.16905+4A>C rs369093036 0.00008
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028 0.00008
NM_182914.3(SYNE2):c.17630G>A (p.Arg5877Gln) rs746459100 0.00008
NM_182914.3(SYNE2):c.17717C>A (p.Ala5906Asp) rs755652581 0.00008
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp) rs773994020 0.00008
NM_182914.3(SYNE2):c.3889A>G (p.Met1297Val) rs368642506 0.00008
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197 0.00008
NM_182914.3(SYNE2):c.10457A>G (p.Asp3486Gly) rs768214736 0.00007
NM_182914.3(SYNE2):c.12492+4A>T rs1016611009 0.00007
NM_182914.3(SYNE2):c.12782C>T (p.Pro4261Leu) rs147278548 0.00007
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641 0.00007
NM_182914.3(SYNE2):c.16244G>T (p.Ser5415Ile) rs377399289 0.00007
NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn) rs760936547 0.00007
NM_182914.3(SYNE2):c.2472G>A (p.Gln824=) rs760909392 0.00007
NM_182914.3(SYNE2):c.4704G>C (p.Glu1568Asp) rs112802347 0.00007
NM_182914.3(SYNE2):c.7151C>A (p.Ser2384Tyr) rs759415502 0.00007
NM_182914.3(SYNE2):c.7457_7459del (p.Thr2486_Gly2487delinsArg) rs775671986 0.00007
NM_182914.3(SYNE2):c.8861C>T (p.Ala2954Val) rs369713092 0.00007
NM_182914.3(SYNE2):c.10051G>C (p.Glu3351Gln) rs750654159 0.00006
NM_182914.3(SYNE2):c.1031A>G (p.Lys344Arg) rs776084455 0.00006
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825 0.00006
NM_182914.3(SYNE2):c.11876C>T (p.Thr3959Ile) rs149790389 0.00006
NM_182914.3(SYNE2):c.12397G>T (p.Ala4133Ser) rs758104840 0.00006
NM_182914.3(SYNE2):c.12407C>T (p.Ser4136Leu) rs148970735 0.00006
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_182914.3(SYNE2):c.14646+6T>A rs369760846 0.00006
NM_182914.3(SYNE2):c.14976+3A>G rs747632731 0.00006
NM_182914.3(SYNE2):c.15185G>A (p.Arg5062His) rs760110795 0.00006
NM_182914.3(SYNE2):c.15439A>G (p.Met5147Val) rs778595864 0.00006
NM_182914.3(SYNE2):c.16084A>G (p.Thr5362Ala) rs141943858 0.00006
NM_182914.3(SYNE2):c.17524G>A (p.Glu5842Lys) rs769564739 0.00006
NM_182914.3(SYNE2):c.17591A>G (p.Asn5864Ser) rs566886977 0.00006
NM_182914.3(SYNE2):c.17791G>A (p.Ala5931Thr) rs945430507 0.00006
NM_182914.3(SYNE2):c.18706G>A (p.Val6236Ile) rs113434745 0.00006
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln) rs140857065 0.00006
NM_182914.3(SYNE2):c.19151G>A (p.Ser6384Asn) rs1440528762 0.00006
NM_182914.3(SYNE2):c.19316A>C (p.Tyr6439Ser) rs753261176 0.00006
NM_182914.3(SYNE2):c.20140G>A (p.Asp6714Asn) rs751000273 0.00006
NM_182914.3(SYNE2):c.296C>G (p.Thr99Arg) rs557215551 0.00006
NM_182914.3(SYNE2):c.303A>G (p.Leu101=) rs371277498 0.00006
NM_182914.3(SYNE2):c.3829C>T (p.Arg1277Cys) rs530177448 0.00006
NM_182914.3(SYNE2):c.4252G>C (p.Val1418Leu) rs770898049 0.00006
NM_182914.3(SYNE2):c.4906G>A (p.Asp1636Asn) rs1030213853 0.00006
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702 0.00006
NM_182914.3(SYNE2):c.593A>G (p.Tyr198Cys) rs377436719 0.00006
NM_182914.3(SYNE2):c.6172A>G (p.Lys2058Glu) rs762452734 0.00006
NM_182914.3(SYNE2):c.6946G>A (p.Val2316Ile) rs192424808 0.00006
NM_182914.3(SYNE2):c.7300C>T (p.Arg2434Trp) rs570233690 0.00006
NM_182914.3(SYNE2):c.7358A>T (p.Glu2453Val) rs367811181 0.00006
NM_182914.3(SYNE2):c.7846A>C (p.Lys2616Gln) rs765783307 0.00006
NM_182914.3(SYNE2):c.8524A>G (p.Ile2842Val) rs370213701 0.00006
NM_182914.3(SYNE2):c.8546T>C (p.Met2849Thr) rs759525460 0.00006
NM_182914.3(SYNE2):c.8691G>C (p.Glu2897Asp) rs758754933 0.00006
NM_182914.3(SYNE2):c.10867-3T>C rs764840139 0.00005
NM_182914.3(SYNE2):c.13000C>G (p.Gln4334Glu) rs374108464 0.00005
NM_182914.3(SYNE2):c.13423G>A (p.Val4475Ile) rs200498250 0.00005
NM_182914.3(SYNE2):c.15073A>G (p.Thr5025Ala) rs527550049 0.00005
NM_182914.3(SYNE2):c.15307-3T>C rs781158552 0.00005
NM_182914.3(SYNE2):c.15667T>A (p.Ser5223Thr) rs150361559 0.00005
NM_182914.3(SYNE2):c.18265G>A (p.Val6089Ile) rs759251568 0.00005
NM_182914.3(SYNE2):c.19657+6G>A rs202159156 0.00005
NM_182914.3(SYNE2):c.20177G>A (p.Arg6726Gln) rs200847772 0.00005
NM_182914.3(SYNE2):c.20413G>A (p.Glu6805Lys) rs199923651 0.00005
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys) rs758897129 0.00005
NM_182914.3(SYNE2):c.2940+6A>G rs371534076 0.00005
NM_182914.3(SYNE2):c.3755T>C (p.Ile1252Thr) rs767383909 0.00005
NM_182914.3(SYNE2):c.3971C>T (p.Ala1324Val) rs778039158 0.00005
NM_182914.3(SYNE2):c.3989C>T (p.Ala1330Val) rs762901807 0.00005
NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val) rs375543783 0.00005
NM_182914.3(SYNE2):c.7223A>T (p.Asp2408Val) rs550374867 0.00005
NM_182914.3(SYNE2):c.10556A>G (p.Glu3519Gly) rs75146753 0.00004
NM_182914.3(SYNE2):c.10721A>G (p.Asn3574Ser) rs755972675 0.00004
NM_182914.3(SYNE2):c.10844C>T (p.Pro3615Leu) rs549458287 0.00004
NM_182914.3(SYNE2):c.11108A>G (p.Glu3703Gly) rs763363520 0.00004
NM_182914.3(SYNE2):c.11665G>A (p.Ala3889Thr) rs759802358 0.00004
NM_182914.3(SYNE2):c.11867T>C (p.Leu3956Ser) rs746480532 0.00004
NM_182914.3(SYNE2):c.12151C>G (p.Gln4051Glu) rs149546014 0.00004
NM_182914.3(SYNE2):c.12238A>G (p.Arg4080Gly) rs769301000 0.00004
NM_182914.3(SYNE2):c.12547C>T (p.Pro4183Ser) rs751766809 0.00004
NM_182914.3(SYNE2):c.12660A>G (p.Gln4220=) rs745820221 0.00004
NM_182914.3(SYNE2):c.12991A>T (p.Met4331Leu) rs144392904 0.00004
NM_182914.3(SYNE2):c.13021C>G (p.Gln4341Glu) rs367698099 0.00004
NM_182914.3(SYNE2):c.13159-7A>G rs759110381 0.00004
NM_182914.3(SYNE2):c.13525C>T (p.Arg4509Cys) rs752451899 0.00004
NM_182914.3(SYNE2):c.13814A>C (p.Glu4605Ala) rs766721405 0.00004
NM_182914.3(SYNE2):c.13907G>A (p.Arg4636His) rs752745004 0.00004
NM_182914.3(SYNE2):c.13917+10C>T rs760288753 0.00004
NM_182914.3(SYNE2):c.14047G>A (p.Glu4683Lys) rs146157227 0.00004
NM_182914.3(SYNE2):c.14071A>G (p.Lys4691Glu) rs143798878 0.00004
NM_182914.3(SYNE2):c.14239A>G (p.Met4747Val) rs759983332 0.00004
NM_182914.3(SYNE2):c.14479C>T (p.Arg4827Cys) rs146052780 0.00004
NM_182914.3(SYNE2):c.14827C>T (p.Leu4943Phe) rs150137142 0.00004
NM_182914.3(SYNE2):c.15028A>G (p.Ser5010Gly) rs754937863 0.00004
NM_182914.3(SYNE2):c.15130C>T (p.Leu5044Phe) rs551007724 0.00004
NM_182914.3(SYNE2):c.16024G>A (p.Gly5342Ser) rs34541826 0.00004
NM_182914.3(SYNE2):c.16313A>G (p.Asp5438Gly) rs374348890 0.00004
NM_182914.3(SYNE2):c.16671G>C (p.Lys5557Asn) rs777646941 0.00004
NM_182914.3(SYNE2):c.17140C>T (p.Arg5714Cys) rs375246083 0.00004
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His) rs200137127 0.00004
NM_182914.3(SYNE2):c.17504A>G (p.Asp5835Gly) rs147097998 0.00004
NM_182914.3(SYNE2):c.17713G>A (p.Val5905Met) rs778679729 0.00004
NM_182914.3(SYNE2):c.17959T>C (p.Ser5987Pro) rs772035517 0.00004
NM_182914.3(SYNE2):c.18317T>C (p.Ile6106Thr) rs144624224 0.00004
NM_182914.3(SYNE2):c.1844T>C (p.Phe615Ser) rs369877790 0.00004
NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser) rs199566869 0.00004
NM_182914.3(SYNE2):c.19153G>A (p.Glu6385Lys) rs374948516 0.00004
NM_182914.3(SYNE2):c.1919A>G (p.Asn640Ser) rs111890751 0.00004
NM_182914.3(SYNE2):c.19269C>T (p.Gly6423=) rs145411822 0.00004
NM_182914.3(SYNE2):c.19478T>C (p.Met6493Thr) rs138514714 0.00004
NM_182914.3(SYNE2):c.19726T>C (p.Leu6576=) rs772308280 0.00004
NM_182914.3(SYNE2):c.20045C>T (p.Ser6682Leu) rs201256334 0.00004
NM_182914.3(SYNE2):c.20061+5G>A rs774599138 0.00004
NM_182914.3(SYNE2):c.20206C>G (p.Leu6736Val) rs779852124 0.00004
NM_182914.3(SYNE2):c.2023A>G (p.Ile675Val) rs199854951 0.00004
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys) rs201472187 0.00004
NM_182914.3(SYNE2):c.2296A>G (p.Met766Val) rs556342048 0.00004
NM_182914.3(SYNE2):c.2347C>T (p.Leu783Phe) rs766796829 0.00004
NM_182914.3(SYNE2):c.2781+5G>A rs371516053 0.00004
NM_182914.3(SYNE2):c.2858T>A (p.Ile953Asn) rs756623151 0.00004
NM_182914.3(SYNE2):c.2902C>T (p.Arg968Cys) rs758515221 0.00004
NM_182914.3(SYNE2):c.2933A>G (p.Glu978Gly) rs769589509 0.00004
NM_182914.3(SYNE2):c.3143C>T (p.Ser1048Leu) rs763314715 0.00004
NM_182914.3(SYNE2):c.3408G>T (p.Arg1136Ser) rs762347655 0.00004
NM_182914.3(SYNE2):c.3665G>A (p.Arg1222Gln) rs370747910 0.00004
NM_182914.3(SYNE2):c.5294A>T (p.Glu1765Val) rs558820427 0.00004
NM_182914.3(SYNE2):c.5423C>G (p.Thr1808Ser) rs780659094 0.00004
NM_182914.3(SYNE2):c.5540T>G (p.Phe1847Cys) rs182807926 0.00004
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu) rs201327410 0.00004
NM_182914.3(SYNE2):c.7399G>A (p.Ala2467Thr) rs752492583 0.00004
NM_182914.3(SYNE2):c.7481T>C (p.Ile2494Thr) rs377113182 0.00004
NM_182914.3(SYNE2):c.7816G>A (p.Gly2606Ser) rs201069405 0.00004
NM_182914.3(SYNE2):c.8148G>T (p.Leu2716Phe) rs529012269 0.00004
NM_182914.3(SYNE2):c.8786G>A (p.Arg2929Lys) rs1177149020 0.00004
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe) rs886044254 0.00004
NM_182914.3(SYNE2):c.9976A>C (p.Lys3326Gln) rs747991604 0.00004
NM_182914.3(SYNE2):c.*305G>T rs886050605 0.00003
NM_182914.3(SYNE2):c.10164G>A (p.Ser3388=) rs772208833 0.00003
NM_182914.3(SYNE2):c.10327G>A (p.Val3443Met) rs564182126 0.00003
NM_182914.3(SYNE2):c.10393G>A (p.Glu3465Lys) rs376654106 0.00003
NM_182914.3(SYNE2):c.10424G>A (p.Ser3475Asn) rs769912217 0.00003
NM_182914.3(SYNE2):c.10454T>C (p.Leu3485Ser) rs533363453 0.00003
NM_182914.3(SYNE2):c.10460A>C (p.Asn3487Thr) rs776293614 0.00003
NM_182914.3(SYNE2):c.10639G>T (p.Ala3547Ser) rs1198798280 0.00003
NM_182914.3(SYNE2):c.10947G>A (p.Met3649Ile) rs772140514 0.00003
NM_182914.3(SYNE2):c.11323T>A (p.Cys3775Ser) rs753899883 0.00003
NM_182914.3(SYNE2):c.11336A>G (p.Gln3779Arg) rs538884693 0.00003
NM_182914.3(SYNE2):c.11441A>G (p.Tyr3814Cys) rs780583186 0.00003
NM_182914.3(SYNE2):c.12529A>G (p.Met4177Val) rs772354856 0.00003
NM_182914.3(SYNE2):c.12856A>C (p.Ile4286Leu) rs763081757 0.00003
NM_182914.3(SYNE2):c.13524G>C (p.Leu4508=) rs373702093 0.00003
NM_182914.3(SYNE2):c.13670A>G (p.Tyr4557Cys) rs1215002631 0.00003
NM_182914.3(SYNE2):c.13709C>T (p.Thr4570Met) rs199750072 0.00003
NM_182914.3(SYNE2):c.13855G>T (p.Ala4619Ser) rs374462333 0.00003
NM_182914.3(SYNE2):c.13861G>A (p.Ala4621Thr) rs745357432 0.00003
NM_182914.3(SYNE2):c.14225C>T (p.Ala4742Val) rs373034895 0.00003
NM_182914.3(SYNE2):c.14400A>G (p.Ile4800Met) rs368522050 0.00003
NM_182914.3(SYNE2):c.14701G>A (p.Glu4901Lys) rs766116136 0.00003
NM_182914.3(SYNE2):c.14962A>G (p.Ile4988Val) rs912250826 0.00003
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017 0.00003
NM_182914.3(SYNE2):c.15749G>A (p.Arg5250Gln) rs201962497 0.00003
NM_182914.3(SYNE2):c.15792G>C (p.Gln5264His) rs368363575 0.00003
NM_182914.3(SYNE2):c.16094+4T>A rs769120290 0.00003
NM_182914.3(SYNE2):c.16109A>C (p.Asn5370Thr) rs760687493 0.00003
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln) rs554186246 0.00003
NM_182914.3(SYNE2):c.17177T>C (p.Val5726Ala) rs944538946 0.00003
NM_182914.3(SYNE2):c.17188G>A (p.Glu5730Lys) rs368540403 0.00003
NM_182914.3(SYNE2):c.17235+5T>C rs777252251 0.00003
NM_182914.3(SYNE2):c.17444G>A (p.Cys5815Tyr) rs143784708 0.00003
NM_182914.3(SYNE2):c.17692T>C (p.Trp5898Arg) rs147971588 0.00003
NM_182914.3(SYNE2):c.18104G>A (p.Arg6035His) rs963291095 0.00003
NM_182914.3(SYNE2):c.18379C>T (p.Arg6127Trp) rs368136441 0.00003
NM_182914.3(SYNE2):c.18407G>A (p.Arg6136His) rs761163756 0.00003
NM_182914.3(SYNE2):c.18440G>A (p.Arg6147His) rs761124507 0.00003
NM_182914.3(SYNE2):c.18566G>A (p.Arg6189Gln) rs751450273 0.00003
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=) rs757232346 0.00003
NM_182914.3(SYNE2):c.19394C>T (p.Ala6465Val) rs762635611 0.00003
NM_182914.3(SYNE2):c.19609C>G (p.Pro6537Ala) rs570564199 0.00003
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys) rs35763782 0.00003
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln) rs761684738 0.00003
NM_182914.3(SYNE2):c.20050A>G (p.Met6684Val) rs1489141038 0.00003
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938 0.00003
NM_182914.3(SYNE2):c.20314A>G (p.Ile6772Val) rs566278939 0.00003
NM_182914.3(SYNE2):c.242G>A (p.Arg81Gln) rs756729566 0.00003
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys) rs763133096 0.00003
NM_182914.3(SYNE2):c.2663C>T (p.Ser888Phe) rs763645041 0.00003
NM_182914.3(SYNE2):c.2680G>A (p.Ala894Thr) rs752011037 0.00003
NM_182914.3(SYNE2):c.3917C>A (p.Thr1306Lys) rs749834245 0.00003
NM_182914.3(SYNE2):c.418C>G (p.Leu140Val) rs761503203 0.00003
NM_182914.3(SYNE2):c.4513G>A (p.Val1505Met) rs542064510 0.00003
NM_182914.3(SYNE2):c.4587A>G (p.Gln1529=) rs774411048 0.00003
NM_182914.3(SYNE2):c.4742A>C (p.Lys1581Thr) rs746066706 0.00003
NM_182914.3(SYNE2):c.4748A>T (p.Glu1583Val) rs775635485 0.00003
NM_182914.3(SYNE2):c.5098G>A (p.Val1700Met) rs372345929 0.00003
NM_182914.3(SYNE2):c.5159A>C (p.Glu1720Ala) rs1013597826 0.00003
NM_182914.3(SYNE2):c.5174A>G (p.Asn1725Ser) rs200554446 0.00003
NM_182914.3(SYNE2):c.6064T>C (p.Tyr2022His) rs1264331455 0.00003
NM_182914.3(SYNE2):c.6329C>T (p.Pro2110Leu) rs770940744 0.00003
NM_182914.3(SYNE2):c.6880-4G>A rs776756586 0.00003
NM_182914.3(SYNE2):c.7254A>G (p.Gln2418=) rs984046422 0.00003
NM_182914.3(SYNE2):c.8474G>A (p.Arg2825Lys) rs748757670 0.00003
NM_182914.3(SYNE2):c.8849A>C (p.Glu2950Ala) rs540706990 0.00003
NM_182914.3(SYNE2):c.8905C>G (p.Leu2969Val) rs773914389 0.00003
NM_182914.3(SYNE2):c.8968G>A (p.Ala2990Thr) rs748085293 0.00003
NM_182914.3(SYNE2):c.9001C>G (p.Leu3001Val) rs771518864 0.00003
NM_182914.3(SYNE2):c.9124G>C (p.Glu3042Gln) rs1364501437 0.00003
NM_182914.3(SYNE2):c.10036G>A (p.Ala3346Thr) rs536877053 0.00002
NM_182914.3(SYNE2):c.10163C>T (p.Ser3388Leu) rs759908590 0.00002
NM_182914.3(SYNE2):c.10597C>G (p.Gln3533Glu) rs200040718 0.00002
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met) rs373340663 0.00002
NM_182914.3(SYNE2):c.10970T>C (p.Ile3657Thr) rs765755231 0.00002
NM_182914.3(SYNE2):c.11030A>G (p.Asn3677Ser) rs1044882220 0.00002
NM_182914.3(SYNE2):c.1105G>A (p.Ala369Thr) rs746878775 0.00002
NM_182914.3(SYNE2):c.1106C>T (p.Ala369Val) rs550699600 0.00002
NM_182914.3(SYNE2):c.11090A>G (p.Asn3697Ser) rs771556616 0.00002
NM_182914.3(SYNE2):c.11282T>A (p.Ile3761Asn) rs767934367 0.00002
NM_182914.3(SYNE2):c.11906G>A (p.Arg3969Gln) rs563332131 0.00002
NM_182914.3(SYNE2):c.11930T>C (p.Ile3977Thr) rs1459437577 0.00002
NM_182914.3(SYNE2):c.1195C>A (p.Leu399Ile) rs751800008 0.00002
NM_182914.3(SYNE2):c.11G>A (p.Ser4Asn) rs750823503 0.00002
NM_182914.3(SYNE2):c.12108+3A>G rs751551602 0.00002
NM_182914.3(SYNE2):c.12194T>C (p.Leu4065Pro) rs780016521 0.00002
NM_182914.3(SYNE2):c.12227A>G (p.Glu4076Gly) rs556962500 0.00002
NM_182914.3(SYNE2):c.1238C>T (p.Ser413Phe) rs777663838 0.00002
NM_182914.3(SYNE2):c.12608A>T (p.Glu4203Val) rs949678604 0.00002
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu) rs139959852 0.00002
NM_182914.3(SYNE2):c.12941C>T (p.Ala4314Val) rs769993001 0.00002
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=) rs762957203 0.00002
NM_182914.3(SYNE2):c.13159-3C>T rs1277619996 0.00002
NM_182914.3(SYNE2):c.13241G>A (p.Cys4414Tyr) rs1020799360 0.00002
NM_182914.3(SYNE2):c.13707+6G>A rs776316108 0.00002
NM_182914.3(SYNE2):c.13897G>A (p.Asp4633Asn) rs751862856 0.00002
NM_182914.3(SYNE2):c.14053G>A (p.Ala4685Thr) rs779457100 0.00002
NM_182914.3(SYNE2):c.14203G>A (p.Val4735Ile) rs538224852 0.00002
NM_182914.3(SYNE2):c.14207C>T (p.Thr4736Ile) rs141148067 0.00002
NM_182914.3(SYNE2):c.14229G>T (p.Leu4743Phe) rs772739903 0.00002
NM_182914.3(SYNE2):c.14312C>T (p.Ala4771Val) rs573850693 0.00002
NM_182914.3(SYNE2):c.14614G>A (p.Glu4872Lys) rs140203936 0.00002
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu) rs145031656 0.00002
NM_182914.3(SYNE2):c.15058G>C (p.Glu5020Gln) rs747472621 0.00002
NM_182914.3(SYNE2):c.15159+1G>T rs778511275 0.00002
NM_182914.3(SYNE2):c.15457C>T (p.Arg5153Cys) rs770267414 0.00002
NM_182914.3(SYNE2):c.15464A>G (p.His5155Arg) rs112886641 0.00002
NM_182914.3(SYNE2):c.15865G>A (p.Val5289Met) rs181059522 0.00002
NM_182914.3(SYNE2):c.16094G>A (p.Arg5365Lys) rs1007733286 0.00002
NM_182914.3(SYNE2):c.16246A>C (p.Met5416Leu) rs772402331 0.00002
NM_182914.3(SYNE2):c.16304T>G (p.Leu5435Arg) rs750900424 0.00002
NM_182914.3(SYNE2):c.16760+6A>G rs756707482 0.00002
NM_182914.3(SYNE2):c.16901A>G (p.Tyr5634Cys) rs747214483 0.00002
NM_182914.3(SYNE2):c.17049T>G (p.Asn5683Lys) rs1163559639 0.00002
NM_182914.3(SYNE2):c.17191C>T (p.Arg5731Cys) rs376008959 0.00002
NM_182914.3(SYNE2):c.17443T>C (p.Cys5815Arg) rs765907856 0.00002
NM_182914.3(SYNE2):c.17635G>A (p.Val5879Ile) rs555731479 0.00002
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=) rs971473774 0.00002
NM_182914.3(SYNE2):c.18163G>A (p.Asp6055Asn) rs543875232 0.00002
NM_182914.3(SYNE2):c.18180G>C (p.Gln6060His) rs771893487 0.00002
NM_182914.3(SYNE2):c.18385A>G (p.Met6129Val) rs766731181 0.00002
NM_182914.3(SYNE2):c.18660C>T (p.His6220=) rs757875136 0.00002
NM_182914.3(SYNE2):c.18851G>A (p.Arg6284His) rs202157687 0.00002
NM_182914.3(SYNE2):c.19141C>T (p.Arg6381Trp) rs372959292 0.00002
NM_182914.3(SYNE2):c.19502C>G (p.Pro6501Arg) rs763965173 0.00002
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr) rs143077670 0.00002
NM_182914.3(SYNE2):c.20215C>T (p.Arg6739Cys) rs142809757 0.00002
NM_182914.3(SYNE2):c.20288T>C (p.Ile6763Thr) rs758317659 0.00002
NM_182914.3(SYNE2):c.20543G>A (p.Arg6848His) rs759174521 0.00002
NM_182914.3(SYNE2):c.237+6A>G rs766604570 0.00002
NM_182914.3(SYNE2):c.241C>T (p.Arg81Trp) rs964727357 0.00002
NM_182914.3(SYNE2):c.2646+6A>T rs768967034 0.00002
NM_182914.3(SYNE2):c.2744T>C (p.Leu915Ser) rs376041943 0.00002
NM_182914.3(SYNE2):c.332T>C (p.Ile111Thr) rs771063078 0.00002
NM_182914.3(SYNE2):c.3368G>A (p.Arg1123Lys) rs748431472 0.00002
NM_182914.3(SYNE2):c.3505C>T (p.Arg1169Cys) rs574167855 0.00002
NM_182914.3(SYNE2):c.3567G>T (p.Lys1189Asn) rs776221033 0.00002
NM_182914.3(SYNE2):c.3804A>G (p.Ile1268Met) rs753563194 0.00002
NM_182914.3(SYNE2):c.3823T>C (p.Cys1275Arg) rs2096765246 0.00002
NM_182914.3(SYNE2):c.4013C>T (p.Ser1338Phe) rs1226719188 0.00002
NM_182914.3(SYNE2):c.4024G>A (p.Val1342Ile) rs747274988 0.00002
NM_182914.3(SYNE2):c.4332A>G (p.Gln1444=) rs753910622 0.00002
NM_182914.3(SYNE2):c.4394A>G (p.His1465Arg) rs537177665 0.00002
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu) rs764521226 0.00002
NM_182914.3(SYNE2):c.4931C>T (p.Ala1644Val) rs771776215 0.00002
NM_182914.3(SYNE2):c.4972A>G (p.Ile1658Val) rs1202099367 0.00002
NM_182914.3(SYNE2):c.5015A>T (p.His1672Leu) rs927045912 0.00002
NM_182914.3(SYNE2):c.6164A>G (p.His2055Arg) rs368032214 0.00002
NM_182914.3(SYNE2):c.6398A>T (p.Tyr2133Phe) rs1307365295 0.00002
NM_182914.3(SYNE2):c.660T>G (p.Ile220Met) rs375642734 0.00002
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln) rs764036360 0.00002
NM_182914.3(SYNE2):c.7321A>G (p.Asn2441Asp) rs754057512 0.00002
NM_182914.3(SYNE2):c.7541A>T (p.Asn2514Ile) rs771061486 0.00002
NM_182914.3(SYNE2):c.7727A>T (p.Asn2576Ile) rs754276862 0.00002
NM_182914.3(SYNE2):c.8329G>A (p.Ala2777Thr) rs187045714 0.00002
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe) rs200570324 0.00002
NM_182914.3(SYNE2):c.8472A>G (p.Gln2824=) rs888692979 0.00002
NM_182914.3(SYNE2):c.8547G>T (p.Met2849Ile) rs755461661 0.00002
NM_182914.3(SYNE2):c.8558G>A (p.Ser2853Asn) rs763671728 0.00002
NM_182914.3(SYNE2):c.8729G>A (p.Arg2910Lys) rs367802102 0.00002
NM_182914.3(SYNE2):c.892A>C (p.Lys298Gln) rs866911879 0.00002
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=) rs773209564 0.00002
NM_182914.3(SYNE2):c.9692G>A (p.Arg3231His) rs773533722 0.00002
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys) rs570116954 0.00002
NM_182914.3(SYNE2):c.*372T>C rs964393717 0.00001
NM_182914.3(SYNE2):c.*489C>A rs886050607 0.00001
NM_182914.3(SYNE2):c.*734T>A rs886050610 0.00001
NM_182914.3(SYNE2):c.10073T>G (p.Leu3358Arg) rs752681009 0.00001
NM_182914.3(SYNE2):c.10201G>C (p.Glu3401Gln) rs935239194 0.00001
NM_182914.3(SYNE2):c.10237A>T (p.Thr3413Ser) rs780825872 0.00001
NM_182914.3(SYNE2):c.10275A>C (p.Arg3425Ser) rs886285721 0.00001
NM_182914.3(SYNE2):c.10303G>T (p.Asp3435Tyr) rs931738357 0.00001
NM_182914.3(SYNE2):c.10308C>T (p.Gly3436=) rs1408955404 0.00001
NM_182914.3(SYNE2):c.10386G>A (p.Met3462Ile) rs780632525 0.00001
NM_182914.3(SYNE2):c.10536C>A (p.Asp3512Glu) rs557133901 0.00001
NM_182914.3(SYNE2):c.1063G>T (p.Asp355Tyr) rs765413747 0.00001
NM_182914.3(SYNE2):c.10802A>G (p.Gln3601Arg) rs759503520 0.00001
NM_182914.3(SYNE2):c.10910A>G (p.Asn3637Ser) rs753086381 0.00001
NM_182914.3(SYNE2):c.10990T>C (p.Cys3664Arg) rs372299859 0.00001
NM_182914.3(SYNE2):c.11023-24_11023-9del rs756704685 0.00001
NM_182914.3(SYNE2):c.11027G>A (p.Ser3676Asn) rs200505107 0.00001
NM_182914.3(SYNE2):c.11071A>G (p.Lys3691Glu) rs147104686 0.00001
NM_182914.3(SYNE2):c.11084T>C (p.Ile3695Thr) rs774045803 0.00001
NM_182914.3(SYNE2):c.11174A>G (p.Asp3725Gly) rs1595379549 0.00001
NM_182914.3(SYNE2):c.11389A>G (p.Thr3797Ala) rs1323998717 0.00001
NM_182914.3(SYNE2):c.11411C>G (p.Thr3804Ser) rs367893963 0.00001
NM_182914.3(SYNE2):c.11468A>G (p.His3823Arg) rs745526712 0.00001
NM_182914.3(SYNE2):c.11488G>T (p.Ala3830Ser) rs2097574430 0.00001
NM_182914.3(SYNE2):c.11508G>C (p.Gln3836His) rs1315959283 0.00001
NM_182914.3(SYNE2):c.11539G>A (p.Asp3847Asn) rs376684112 0.00001
NM_182914.3(SYNE2):c.11656C>G (p.Gln3886Glu) rs1235280357 0.00001
NM_182914.3(SYNE2):c.11660G>A (p.Arg3887Gln) rs181798411 0.00001
NM_182914.3(SYNE2):c.11702C>T (p.Ser3901Leu) rs1311942649 0.00001
NM_182914.3(SYNE2):c.11725A>C (p.Ile3909Leu) rs1484721302 0.00001
NM_182914.3(SYNE2):c.11879G>A (p.Gly3960Glu) rs775836079 0.00001
NM_182914.3(SYNE2):c.11905C>T (p.Arg3969Trp) rs141498263 0.00001
NM_182914.3(SYNE2):c.11956G>A (p.Glu3986Lys) rs779441612 0.00001
NM_182914.3(SYNE2):c.12118G>A (p.Glu4040Lys) rs1245656240 0.00001
NM_182914.3(SYNE2):c.12253G>T (p.Ala4085Ser) rs772564360 0.00001
NM_182914.3(SYNE2):c.12368C>G (p.Ser4123Cys) rs759668362 0.00001
NM_182914.3(SYNE2):c.12381+5G>A rs771680833 0.00001
NM_182914.3(SYNE2):c.12461G>A (p.Arg4154Lys) rs1455878545 0.00001
NM_182914.3(SYNE2):c.12510A>G (p.Ile4170Met) rs200113549 0.00001
NM_182914.3(SYNE2):c.12512G>A (p.Ser4171Asn) rs758662885 0.00001
NM_182914.3(SYNE2):c.12539T>G (p.Ile4180Ser) rs780306283 0.00001
NM_182914.3(SYNE2):c.12609+1G>A rs745516407 0.00001
NM_182914.3(SYNE2):c.12739G>A (p.Glu4247Lys) rs886050590 0.00001
NM_182914.3(SYNE2):c.12767A>G (p.Asn4256Ser) rs552966507 0.00001
NM_182914.3(SYNE2):c.12769G>A (p.Val4257Met) rs765323829 0.00001
NM_182914.3(SYNE2):c.12796G>A (p.Ala4266Thr) rs1316995826 0.00001
NM_182914.3(SYNE2):c.128C>T (p.Ser43Leu) rs754783984 0.00001
NM_182914.3(SYNE2):c.1298T>C (p.Leu433Pro) rs2096556875 0.00001
NM_182914.3(SYNE2):c.13030A>G (p.Thr4344Ala) rs776545846 0.00001
NM_182914.3(SYNE2):c.13160T>C (p.Val4387Ala) rs2097902343 0.00001
NM_182914.3(SYNE2):c.13180G>C (p.Glu4394Gln) rs757620618 0.00001
NM_182914.3(SYNE2):c.1318C>T (p.His440Tyr) rs761844853 0.00001
NM_182914.3(SYNE2):c.13217C>T (p.Ala4406Val) rs1309450077 0.00001
NM_182914.3(SYNE2):c.13422+6T>C rs1451114476 0.00001
NM_182914.3(SYNE2):c.13459A>G (p.Met4487Val) rs370050400 0.00001
NM_182914.3(SYNE2):c.13463A>G (p.Tyr4488Cys) rs775876760 0.00001
NM_182914.3(SYNE2):c.13466A>G (p.Asn4489Ser) rs747349342 0.00001
NM_182914.3(SYNE2):c.13473A>G (p.Arg4491=) rs886042596 0.00001
NM_182914.3(SYNE2):c.13534G>A (p.Ala4512Thr) rs758884582 0.00001
NM_182914.3(SYNE2):c.13613T>A (p.Leu4538Gln) rs370464923 0.00001
NM_182914.3(SYNE2):c.13622G>A (p.Ser4541Asn) rs375241792 0.00001
NM_182914.3(SYNE2):c.13630C>T (p.Leu4544Phe) rs368105920 0.00001
NM_182914.3(SYNE2):c.13695_13707+2dup rs758985012 0.00001
NM_182914.3(SYNE2):c.13707+3A>G rs201254784 0.00001
NM_182914.3(SYNE2):c.13826A>C (p.Asn4609Thr) rs751525888 0.00001
NM_182914.3(SYNE2):c.1384A>G (p.Lys462Glu) rs753039223 0.00001
NM_182914.3(SYNE2):c.13880C>A (p.Ser4627Tyr) rs2097950027 0.00001
NM_182914.3(SYNE2):c.13964C>T (p.Ser4655Phe) rs758010581 0.00001
NM_182914.3(SYNE2):c.14063G>A (p.Arg4688Gln) rs188252400 0.00001
NM_182914.3(SYNE2):c.14110G>T (p.Ala4704Ser) rs886050592 0.00001
NM_182914.3(SYNE2):c.1417A>G (p.Ile473Val) rs755692006 0.00001
NM_182914.3(SYNE2):c.14196C>G (p.Ser4732Arg) rs749317592 0.00001
NM_182914.3(SYNE2):c.14251G>C (p.Val4751Leu) rs768078645 0.00001
NM_182914.3(SYNE2):c.14327T>C (p.Ile4776Thr) rs563179946 0.00001
NM_182914.3(SYNE2):c.1433T>A (p.Phe478Tyr) rs750998654 0.00001
NM_182914.3(SYNE2):c.14393C>T (p.Ala4798Val) rs770006520 0.00001
NM_182914.3(SYNE2):c.14441A>C (p.Glu4814Ala) rs944539742 0.00001
NM_182914.3(SYNE2):c.14460A>C (p.Lys4820Asn) rs574306382 0.00001
NM_182914.3(SYNE2):c.1463A>G (p.Lys488Arg) rs1437677917 0.00001
NM_182914.3(SYNE2):c.14755G>A (p.Ala4919Thr) rs781072783 0.00001
NM_182914.3(SYNE2):c.14801A>G (p.His4934Arg) rs758936935 0.00001
NM_182914.3(SYNE2):c.14908T>C (p.Trp4970Arg) rs1442905244 0.00001
NM_182914.3(SYNE2):c.15057A>G (p.Lys5019=) rs778518604 0.00001
NM_182914.3(SYNE2):c.15159+4A>G rs749960169 0.00001
NM_182914.3(SYNE2):c.15187A>C (p.Lys5063Gln) rs746864967 0.00001
NM_182914.3(SYNE2):c.15206T>C (p.Ile5069Thr) rs200347797 0.00001
NM_182914.3(SYNE2):c.15385G>A (p.Asp5129Asn) rs931728993 0.00001
NM_182914.3(SYNE2):c.15395G>A (p.Ser5132Asn) rs765802633 0.00001
NM_182914.3(SYNE2):c.15404A>G (p.Tyr5135Cys) rs556819169 0.00001
NM_182914.3(SYNE2):c.15458G>A (p.Arg5153His) rs773752983 0.00001
NM_182914.3(SYNE2):c.15484-3T>C rs370197641 0.00001
NM_182914.3(SYNE2):c.15524G>C (p.Ser5175Thr) rs1277439274 0.00001
NM_182914.3(SYNE2):c.15659C>G (p.Ala5220Gly) rs765911639 0.00001
NM_182914.3(SYNE2):c.15700C>A (p.Leu5234Met) rs769634722 0.00001
NM_182914.3(SYNE2):c.15776G>A (p.Ser5259Asn) rs1168529666 0.00001
NM_182914.3(SYNE2):c.15788C>T (p.Thr5263Ile) rs566704933 0.00001
NM_182914.3(SYNE2):c.15859G>A (p.Asp5287Asn) rs188953744 0.00001
NM_182914.3(SYNE2):c.15869A>G (p.Asn5290Ser) rs374774137 0.00001
NM_182914.3(SYNE2):c.15872T>C (p.Met5291Thr) rs776578358 0.00001
NM_182914.3(SYNE2):c.16018G>T (p.Val5340Phe) rs200214648 0.00001
NM_182914.3(SYNE2):c.16087C>A (p.His5363Asn) rs1381652852 0.00001
NM_182914.3(SYNE2):c.16184G>A (p.Gly5395Asp) rs775698210 0.00001
NM_182914.3(SYNE2):c.1618C>A (p.Gln540Lys) rs768004294 0.00001
NM_182914.3(SYNE2):c.16378G>A (p.Ala5460Thr) rs775169295 0.00001
NM_182914.3(SYNE2):c.16494G>C (p.Gln5498His) rs1158224543 0.00001
NM_182914.3(SYNE2):c.16513C>T (p.Arg5505Trp) rs767970692 0.00001
NM_182914.3(SYNE2):c.16550A>G (p.Glu5517Gly) rs765353232 0.00001
NM_182914.3(SYNE2):c.16602C>G (p.Phe5534Leu) rs748802577 0.00001
NM_182914.3(SYNE2):c.16605+10A>G rs761193543 0.00001
NM_182914.3(SYNE2):c.16631A>C (p.Gln5544Pro) rs753694030 0.00001
NM_182914.3(SYNE2):c.16687G>A (p.Val5563Ile) rs756909587 0.00001
NM_182914.3(SYNE2):c.16717C>T (p.Arg5573Trp) rs138323662 0.00001
NM_182914.3(SYNE2):c.16730G>A (p.Arg5577Gln) rs143231145 0.00001
NM_182914.3(SYNE2):c.16771G>A (p.Gly5591Arg) rs979226241 0.00001
NM_182914.3(SYNE2):c.16775T>C (p.Ile5592Thr) rs779437989 0.00001
NM_182914.3(SYNE2):c.16844C>T (p.Ala5615Val) rs372515789 0.00001
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=) rs1490325276 0.00001
NM_182914.3(SYNE2):c.17008T>A (p.Phe5670Ile) rs750982331 0.00001
NM_182914.3(SYNE2):c.17115C>T (p.Phe5705=) rs1450190172 0.00001
NM_182914.3(SYNE2):c.17183G>T (p.Gly5728Val) rs776657050 0.00001
NM_182914.3(SYNE2):c.17225A>G (p.His5742Arg) rs752227568 0.00001
NM_182914.3(SYNE2):c.17264G>A (p.Arg5755Gln) rs368893421 0.00001
NM_182914.3(SYNE2):c.17287G>A (p.Glu5763Lys) rs1315464944 0.00001
NM_182914.3(SYNE2):c.17334G>T (p.Glu5778Asp) rs1349823978 0.00001
NM_182914.3(SYNE2):c.17431-3T>C rs886050595 0.00001
NM_182914.3(SYNE2):c.17557-3C>T rs950834812 0.00001
NM_182914.3(SYNE2):c.17560C>A (p.Leu5854Ile) rs773797629 0.00001
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=) rs886050596 0.00001
NM_182914.3(SYNE2):c.17978A>G (p.Asp5993Gly) rs2098511514 0.00001
NM_182914.3(SYNE2):c.17984A>T (p.Lys5995Met) rs1021795243 0.00001
NM_182914.3(SYNE2):c.18004C>T (p.Arg6002Cys) rs369083384 0.00001
NM_182914.3(SYNE2):c.18005G>A (p.Arg6002His) rs764566778 0.00001
NM_182914.3(SYNE2):c.18013C>A (p.His6005Asn) rs780648179 0.00001
NM_182914.3(SYNE2):c.18015T>C (p.His6005=) rs1323946751 0.00001
NM_182914.3(SYNE2):c.18031G>A (p.Gly6011Arg) rs145257568 0.00001
NM_182914.3(SYNE2):c.18038+5G>A rs1328692834 0.00001
NM_182914.3(SYNE2):c.18118C>T (p.Arg6040Ter) rs745320786 0.00001
NM_182914.3(SYNE2):c.18197A>G (p.Gln6066Arg) rs1185481033 0.00001
NM_182914.3(SYNE2):c.18283G>A (p.Asp6095Asn) rs1018261125 0.00001
NM_182914.3(SYNE2):c.18346C>T (p.Arg6116Cys) rs762858190 0.00001
NM_182914.3(SYNE2):c.1836+6T>G rs780035873 0.00001
NM_182914.3(SYNE2):c.1837G>A (p.Val613Ile) rs761093953 0.00001
NM_182914.3(SYNE2):c.18631A>G (p.Thr6211Ala) rs759557576 0.00001
NM_182914.3(SYNE2):c.18694C>T (p.Arg6232Trp) rs772056587 0.00001
NM_182914.3(SYNE2):c.18695G>A (p.Arg6232Gln) rs549549436 0.00001
NM_182914.3(SYNE2):c.18952G>C (p.Asp6318His) rs144627020 0.00001
NM_182914.3(SYNE2):c.19025G>A (p.Arg6342Gln) rs987547244 0.00001
NM_182914.3(SYNE2):c.19033C>T (p.Arg6345Trp) rs752861384 0.00001
NM_182914.3(SYNE2):c.19160C>T (p.Pro6387Leu) rs756722459 0.00001
NM_182914.3(SYNE2):c.19234G>A (p.Val6412Met) rs755527635 0.00001
NM_182914.3(SYNE2):c.19303G>A (p.Glu6435Lys) rs138111654 0.00001
NM_182914.3(SYNE2):c.19542T>C (p.Tyr6514=) rs904364473 0.00001
NM_182914.3(SYNE2):c.19589C>T (p.Pro6530Leu) rs750341136 0.00001
NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp) rs746433383 0.00001
NM_182914.3(SYNE2):c.19625G>A (p.Gly6542Glu) rs772447674 0.00001
NM_182914.3(SYNE2):c.19653G>C (p.Gln6551His) rs762848054 0.00001
NM_182914.3(SYNE2):c.19679T>C (p.Met6560Thr) rs1016791014 0.00001
NM_182914.3(SYNE2):c.19747A>G (p.Ile6583Val) rs771974044 0.00001
NM_182914.3(SYNE2):c.19892C>T (p.Ala6631Val) rs747881699 0.00001
NM_182914.3(SYNE2):c.199C>T (p.Leu67Phe) rs954752155 0.00001
NM_182914.3(SYNE2):c.20073G>C (p.Gln6691His) rs1555559928 0.00001
NM_182914.3(SYNE2):c.20115C>G (p.Asn6705Lys) rs199800249 0.00001
NM_182914.3(SYNE2):c.20176C>T (p.Arg6726Trp) rs371271767 0.00001
NM_182914.3(SYNE2):c.20185C>G (p.Leu6729Val) rs771563821 0.00001
NM_182914.3(SYNE2):c.20216G>A (p.Arg6739His) rs532853602 0.00001
NM_182914.3(SYNE2):c.20245A>T (p.Ile6749Phe) rs886050599 0.00001
NM_182914.3(SYNE2):c.20284T>C (p.Cys6762Arg) rs1444525177 0.00001
NM_182914.3(SYNE2):c.20303A>C (p.Lys6768Thr) rs775768707 0.00001
NM_182914.3(SYNE2):c.20315T>C (p.Ile6772Thr) rs1474759634 0.00001
NM_182914.3(SYNE2):c.20381A>G (p.Gln6794Arg) rs751565440 0.00001
NM_182914.3(SYNE2):c.20399T>C (p.Leu6800Pro) rs763134759 0.00001
NM_182914.3(SYNE2):c.20428G>T (p.Asp6810Tyr) rs1370786771 0.00001
NM_182914.3(SYNE2):c.20435C>G (p.Pro6812Arg) rs749898798 0.00001
NM_182914.3(SYNE2):c.20452C>G (p.Pro6818Ala) rs777951739 0.00001
NM_182914.3(SYNE2):c.20519T>A (p.Val6840Asp) rs758858068 0.00001
NM_182914.3(SYNE2):c.20537C>T (p.Pro6846Leu) rs1323584158 0.00001
NM_182914.3(SYNE2):c.20630C>T (p.Ser6877Phe) rs548596262 0.00001
NM_182914.3(SYNE2):c.2152-3T>C rs754264426 0.00001
NM_182914.3(SYNE2):c.2234A>G (p.Gln745Arg) rs185674511 0.00001
NM_182914.3(SYNE2):c.2251G>T (p.Ala751Ser) rs773172045 0.00001
NM_182914.3(SYNE2):c.2260A>C (p.Lys754Gln) rs201892861 0.00001
NM_182914.3(SYNE2):c.2300A>T (p.Glu767Val) rs138419017 0.00001
NM_182914.3(SYNE2):c.2314-9T>C rs1351046607 0.00001
NM_182914.3(SYNE2):c.2348T>C (p.Leu783Pro) rs755334815 0.00001
NM_182914.3(SYNE2):c.2362G>A (p.Glu788Lys) rs767773345 0.00001
NM_182914.3(SYNE2):c.2522C>T (p.Ser841Leu) rs1483737214 0.00001
NM_182914.3(SYNE2):c.262T>C (p.Phe88Leu) rs978806035 0.00001
NM_182914.3(SYNE2):c.2781+4A>G rs1941605291 0.00001
NM_182914.3(SYNE2):c.2839G>A (p.Gly947Arg) rs1157242509 0.00001
NM_182914.3(SYNE2):c.28G>A (p.Glu10Lys) rs781375790 0.00001
NM_182914.3(SYNE2):c.2900T>C (p.Ile967Thr) rs1274813668 0.00001
NM_182914.3(SYNE2):c.2940G>A (p.Glu980=) rs559579030 0.00001
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=) rs886050580 0.00001
NM_182914.3(SYNE2):c.3103G>A (p.Glu1035Lys) rs770698687 0.00001
NM_182914.3(SYNE2):c.3160A>G (p.Ile1054Val) rs773784466 0.00001
NM_182914.3(SYNE2):c.3272T>C (p.Leu1091Pro) rs2096727951 0.00001
NM_182914.3(SYNE2):c.3311T>C (p.Met1104Thr) rs778313924 0.00001
NM_182914.3(SYNE2):c.3325A>G (p.Ser1109Gly) rs982358351 0.00001
NM_182914.3(SYNE2):c.3491A>G (p.Asn1164Ser) rs1187492375 0.00001
NM_182914.3(SYNE2):c.3550G>A (p.Val1184Met) rs377084463 0.00001
NM_182914.3(SYNE2):c.3556G>T (p.Asp1186Tyr) rs898209839 0.00001
NM_182914.3(SYNE2):c.3613G>A (p.Glu1205Lys) rs375217349 0.00001
NM_182914.3(SYNE2):c.3639-1G>C rs1308678682 0.00001
NM_182914.3(SYNE2):c.3721C>G (p.Leu1241Val) rs765556164 0.00001
NM_182914.3(SYNE2):c.3806C>T (p.Ala1269Val) rs757090585 0.00001
NM_182914.3(SYNE2):c.3951G>T (p.Arg1317Ser) rs911680539 0.00001
NM_182914.3(SYNE2):c.4126C>T (p.His1376Tyr) rs765665332 0.00001
NM_182914.3(SYNE2):c.4190C>T (p.Thr1397Ile) rs760136466 0.00001
NM_182914.3(SYNE2):c.4222A>G (p.Ile1408Val) rs755316066 0.00001
NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro) rs748414819 0.00001
NM_182914.3(SYNE2):c.4309A>G (p.Asn1437Asp) rs554653679 0.00001
NM_182914.3(SYNE2):c.4358T>C (p.Ile1453Thr) rs139513761 0.00001
NM_182914.3(SYNE2):c.4375A>T (p.Thr1459Ser) rs1482814444 0.00001
NM_182914.3(SYNE2):c.4523A>G (p.Gln1508Arg) rs374305796 0.00001
NM_182914.3(SYNE2):c.4849G>A (p.Glu1617Lys) rs780380973 0.00001
NM_182914.3(SYNE2):c.5084A>G (p.Glu1695Gly) rs746639416 0.00001
NM_182914.3(SYNE2):c.5096G>C (p.Arg1699Thr) rs776002336 0.00001
NM_182914.3(SYNE2):c.5284G>A (p.Gly1762Arg) rs754809587 0.00001
NM_182914.3(SYNE2):c.5389A>G (p.Met1797Val) rs199968665 0.00001
NM_182914.3(SYNE2):c.5410A>G (p.Ile1804Val) rs755788132 0.00001
NM_182914.3(SYNE2):c.5677C>G (p.Gln1893Glu) rs1170718601 0.00001
NM_182914.3(SYNE2):c.5710C>T (p.His1904Tyr) rs762428121 0.00001
NM_182914.3(SYNE2):c.5801G>A (p.Arg1934Gln) rs765830189 0.00001
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=) rs766666230 0.00001
NM_182914.3(SYNE2):c.5849A>T (p.Asp1950Val) rs1360576800 0.00001
NM_182914.3(SYNE2):c.586G>A (p.Ala196Thr) rs765480562 0.00001
NM_182914.3(SYNE2):c.6040G>T (p.Glu2014Ter) rs961554467 0.00001
NM_182914.3(SYNE2):c.6058G>C (p.Asp2020His) rs772510663 0.00001
NM_182914.3(SYNE2):c.605A>G (p.Asn202Ser) rs746518493 0.00001
NM_182914.3(SYNE2):c.6119C>T (p.Pro2040Leu) rs1277532834 0.00001
NM_182914.3(SYNE2):c.6194T>C (p.Met2065Thr) rs768853189 0.00001
NM_182914.3(SYNE2):c.6350C>T (p.Thr2117Ile) rs1258717242 0.00001
NM_182914.3(SYNE2):c.6370G>C (p.Asp2124His) rs764621284 0.00001
NM_182914.3(SYNE2):c.6404+5A>G rs571176673 0.00001
NM_182914.3(SYNE2):c.6429A>C (p.Glu2143Asp) rs1344690423 0.00001
NM_182914.3(SYNE2):c.6742G>A (p.Val2248Ile) rs767605722 0.00001
NM_182914.3(SYNE2):c.6764A>G (p.Gln2255Arg) rs750058499 0.00001
NM_182914.3(SYNE2):c.6799A>G (p.Asn2267Asp) rs961730782 0.00001
NM_182914.3(SYNE2):c.6994A>G (p.Ile2332Val) rs372848337 0.00001
NM_182914.3(SYNE2):c.7028A>G (p.Glu2343Gly) rs770601583 0.00001
NM_182914.3(SYNE2):c.7055A>T (p.Glu2352Val) rs752190689 0.00001
NM_182914.3(SYNE2):c.7093C>T (p.Arg2365Cys) rs781422804 0.00001
NM_182914.3(SYNE2):c.7139A>C (p.Lys2380Thr) rs1157953928 0.00001
NM_182914.3(SYNE2):c.7297G>A (p.Glu2433Lys) rs376116911 0.00001
NM_182914.3(SYNE2):c.7437A>T (p.Glu2479Asp) rs375700055 0.00001
NM_182914.3(SYNE2):c.7508A>G (p.Asn2503Ser) rs1160071284 0.00001
NM_182914.3(SYNE2):c.7569A>T (p.Arg2523Ser) rs763858839 0.00001
NM_182914.3(SYNE2):c.7573T>A (p.Phe2525Ile) rs202017993 0.00001
NM_182914.3(SYNE2):c.7694C>T (p.Ala2565Val) rs200447122 0.00001
NM_182914.3(SYNE2):c.7759C>G (p.His2587Asp) rs758573149 0.00001
NM_182914.3(SYNE2):c.8027A>G (p.Lys2676Arg) rs2097230580 0.00001
NM_182914.3(SYNE2):c.8030A>G (p.His2677Arg) rs777764821 0.00001
NM_182914.3(SYNE2):c.8077A>T (p.Ile2693Phe) rs746691289 0.00001
NM_182914.3(SYNE2):c.8171A>T (p.Glu2724Val) rs759977701 0.00001
NM_182914.3(SYNE2):c.8249T>G (p.Leu2750Arg) rs750371615 0.00001
NM_182914.3(SYNE2):c.8348A>T (p.Glu2783Val) rs773304417 0.00001
NM_182914.3(SYNE2):c.8364G>C (p.Glu2788Asp) rs1020192497 0.00001
NM_182914.3(SYNE2):c.8417A>G (p.Asn2806Ser) rs765407182 0.00001
NM_182914.3(SYNE2):c.8579G>C (p.Arg2860Thr) rs752110658 0.00001
NM_182914.3(SYNE2):c.8600A>C (p.Glu2867Ala) rs371387085 0.00001
NM_182914.3(SYNE2):c.860A>T (p.Asp287Val) rs1595894380 0.00001
NM_182914.3(SYNE2):c.8639C>G (p.Ser2880Cys) rs772011011 0.00001
NM_182914.3(SYNE2):c.8842T>C (p.Phe2948Leu) rs1274158681 0.00001
NM_182914.3(SYNE2):c.8903T>C (p.Leu2968Ser) rs2097237434 0.00001
NM_182914.3(SYNE2):c.9284A>G (p.Lys3095Arg) rs771325522 0.00001
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His) rs1026697162 0.00001
NM_182914.3(SYNE2):c.9618T>C (p.Ile3206=) rs374756957 0.00001
NM_182914.3(SYNE2):c.9631G>T (p.Ala3211Ser) rs199853298 0.00001
NM_182914.3(SYNE2):c.9668C>T (p.Ala3223Val) rs781250830 0.00001
NM_182914.3(SYNE2):c.9700G>C (p.Glu3234Gln) rs372597797 0.00001
NM_182914.3(SYNE2):c.9717G>T (p.Gln3239His) rs1428818552 0.00001
NM_182914.3(SYNE2):c.9733G>T (p.Asp3245Tyr) rs780736831 0.00001
NM_182914.3(SYNE2):c.9779G>A (p.Arg3260His) rs532861539 0.00001
NM_182914.3(SYNE2):c.9830C>G (p.Ala3277Gly) rs758226884 0.00001
NM_182914.3(SYNE2):c.9943G>A (p.Glu3315Lys) rs372982837 0.00001
NM_182914.3(SYNE2):c.9953G>A (p.Gly3318Glu) rs2097266908 0.00001
NC_000014.8:g.(?_64375867)_(64375965_?)del
NC_000014.8:g.(?_64443261)_(64444755_?)del
NC_000014.8:g.(?_64458032)_(64460645_?)del
NC_000014.8:g.(?_64481620)_(64489461_?)del
NC_000014.8:g.(?_64484293)_(64484494_?)del
NC_000014.8:g.(?_64568640)_(64568770_?)del
NC_000014.8:g.(?_64587625)_(64587799_?)del
NM_182914.3(SYNE2):c.*145C>A rs886050602
NM_182914.3(SYNE2):c.*149G>C rs886050603
NM_182914.3(SYNE2):c.*219T>G rs886050604
NM_182914.3(SYNE2):c.*359A>C rs886050606
NM_182914.3(SYNE2):c.*521A>G rs2098717089
NM_182914.3(SYNE2):c.*574A>G rs954643801
NM_182914.3(SYNE2):c.*695T>G rs886050608
NM_182914.3(SYNE2):c.*732G>A rs886050609
NM_182914.3(SYNE2):c.*819G>A rs1300953935
NM_182914.3(SYNE2):c.*820T>G rs941392635
NM_182914.3(SYNE2):c.*824G>A rs2098718315
NM_182914.3(SYNE2):c.10016A>G (p.Lys3339Arg)
NM_182914.3(SYNE2):c.10029G>A (p.Met3343Ile)
NM_182914.3(SYNE2):c.10031A>C (p.Lys3344Thr)
NM_182914.3(SYNE2):c.10046C>T (p.Ala3349Val)
NM_182914.3(SYNE2):c.10051G>A (p.Glu3351Lys)
NM_182914.3(SYNE2):c.10067+3A>G
NM_182914.3(SYNE2):c.10067+6T>C
NM_182914.3(SYNE2):c.10070A>G (p.Tyr3357Cys) rs1034591406
NM_182914.3(SYNE2):c.1008G>T (p.Met336Ile)
NM_182914.3(SYNE2):c.10090T>G (p.Tyr3364Asp)
NM_182914.3(SYNE2):c.10130A>G (p.Lys3377Arg) rs1182521156
NM_182914.3(SYNE2):c.10139C>T (p.Thr3380Ile)
NM_182914.3(SYNE2):c.1019A>G (p.Asn340Ser)
NM_182914.3(SYNE2):c.10233A>G (p.Ile3411Met) rs751265049
NM_182914.3(SYNE2):c.10242A>C (p.Lys3414Asn) rs2153592645
NM_182914.3(SYNE2):c.10246G>A (p.Glu3416Lys)
NM_182914.3(SYNE2):c.10262G>A (p.Arg3421Gln)
NM_182914.3(SYNE2):c.10267A>T (p.Ile3423Phe) rs779367486
NM_182914.3(SYNE2):c.10294A>C (p.Thr3432Pro)
NM_182914.3(SYNE2):c.10310T>C (p.Ile3437Thr)
NM_182914.3(SYNE2):c.10327G>T (p.Val3443Leu) rs564182126
NM_182914.3(SYNE2):c.10348T>C (p.Trp3450Arg) rs375398029
NM_182914.3(SYNE2):c.10348T>G (p.Trp3450Gly) rs375398029
NM_182914.3(SYNE2):c.10367C>A (p.Ala3456Asp) rs1423700005
NM_182914.3(SYNE2):c.10370C>T (p.Ala3457Val) rs2153592805
NM_182914.3(SYNE2):c.10372A>G (p.Lys3458Glu) rs1464529475
NM_182914.3(SYNE2):c.10378T>C (p.Trp3460Arg) rs1369723578
NM_182914.3(SYNE2):c.10427A>G (p.Glu3476Gly) rs866558509
NM_182914.3(SYNE2):c.10431+4A>C
NM_182914.3(SYNE2):c.10431+6T>A rs2097353192
NM_182914.3(SYNE2):c.10431A>G (p.Glu3477=)
NM_182914.3(SYNE2):c.10442A>G (p.Glu3481Gly)
NM_182914.3(SYNE2):c.10447A>G (p.Ile3483Val)
NM_182914.3(SYNE2):c.10480G>C (p.Glu3494Gln) rs752056288
NM_182914.3(SYNE2):c.10490A>G (p.Lys3497Arg) rs2153599582
NM_182914.3(SYNE2):c.10502C>T (p.Ala3501Val) rs1042324901
NM_182914.3(SYNE2):c.10508C>T (p.Thr3503Ile) rs1567208804
NM_182914.3(SYNE2):c.10516_10517insTG (p.Glu3506fs)
NM_182914.3(SYNE2):c.10552G>A (p.Gly3518Arg) rs1555462898
NM_182914.3(SYNE2):c.1055T>C (p.Ile352Thr)
NM_182914.3(SYNE2):c.10566G>T (p.Glu3522Asp)
NM_182914.3(SYNE2):c.10583T>C (p.Leu3528Pro)
NM_182914.3(SYNE2):c.10598A>G (p.Gln3533Arg) rs2153599656
NM_182914.3(SYNE2):c.10601G>A (p.Arg3534His)
NM_182914.3(SYNE2):c.10610G>T (p.Ser3537Ile) rs2097400006
NM_182914.3(SYNE2):c.10636G>C (p.Gly3546Arg)
NM_182914.3(SYNE2):c.10639G>A (p.Ala3547Thr)
NM_182914.3(SYNE2):c.10645G>A (p.Glu3549Lys)
NM_182914.3(SYNE2):c.10669A>T (p.Ile3557Phe) rs2097400485
NM_182914.3(SYNE2):c.1067T>C (p.Leu356Pro)
NM_182914.3(SYNE2):c.10688G>A (p.Arg3563Gln)
NM_182914.3(SYNE2):c.10697+4_10697+10del rs1430702045
NM_182914.3(SYNE2):c.10697+6A>G
NM_182914.3(SYNE2):c.10711G>C (p.Val3571Leu) rs2097435549
NM_182914.3(SYNE2):c.10724A>C (p.Lys3575Thr)
NM_182914.3(SYNE2):c.10809_10811del (p.Thr3604del)
NM_182914.3(SYNE2):c.10838A>G (p.Asp3613Gly)
NM_182914.3(SYNE2):c.1084G>T (p.Asp362Tyr) rs2153454333
NM_182914.3(SYNE2):c.10864G>T (p.Glu3622Ter) rs374132878
NM_182914.3(SYNE2):c.10881C>T (p.Ile3627=) rs750125057
NM_182914.3(SYNE2):c.10924C>A (p.Leu3642Met) rs1595351833
NM_182914.3(SYNE2):c.10928G>A (p.Arg3643Gln) rs748433814
NM_182914.3(SYNE2):c.10935G>C (p.Lys3645Asn)
NM_182914.3(SYNE2):c.10948T>C (p.Tyr3650His)
NM_182914.3(SYNE2):c.1094A>T (p.Gln365Leu)
NM_182914.3(SYNE2):c.10976C>T (p.Ser3659Phe)
NM_182914.3(SYNE2):c.10987G>T (p.Glu3663Ter) rs2153606081
NM_182914.3(SYNE2):c.10990T>A (p.Cys3664Ser) rs372299859
NM_182914.3(SYNE2):c.11011A>G (p.Ile3671Val)
NM_182914.3(SYNE2):c.11016T>C (p.Asp3672=) rs886050584
NM_182914.3(SYNE2):c.11023-14T>C rs2097488518
NM_182914.3(SYNE2):c.11023A>T (p.Ile3675Phe)
NM_182914.3(SYNE2):c.11043A>C (p.Lys3681Asn)
NM_182914.3(SYNE2):c.1111G>T (p.Asp371Tyr)
NM_182914.3(SYNE2):c.11138T>G (p.Ile3713Ser) rs201740276
NM_182914.3(SYNE2):c.11139T>G (p.Ile3713Met) rs755177395
NM_182914.3(SYNE2):c.11157_11163+7del rs2097489968
NM_182914.3(SYNE2):c.11159A>G (p.Gln3720Arg)
NM_182914.3(SYNE2):c.11163G>A (p.Lys3721=) rs2153609576
NM_182914.3(SYNE2):c.11168T>C (p.Met3723Thr)
NM_182914.3(SYNE2):c.1117C>G (p.Leu373Val)
NM_182914.3(SYNE2):c.11182G>A (p.Asp3728Asn) rs2097511455
NM_182914.3(SYNE2):c.11255C>G (p.Ala3752Gly) rs1435842315
NM_182914.3(SYNE2):c.11259A>C (p.Gln3753His) rs1226574131
NM_182914.3(SYNE2):c.1129-3C>A
NM_182914.3(SYNE2):c.11297A>G (p.Tyr3766Cys) rs2097512603
NM_182914.3(SYNE2):c.11324G>A (p.Cys3775Tyr)
NM_182914.3(SYNE2):c.11327G>A (p.Arg3776Lys)
NM_182914.3(SYNE2):c.1133A>G (p.Asn378Ser)
NM_182914.3(SYNE2):c.11342A>G (p.Asn3781Ser) rs746603645
NM_182914.3(SYNE2):c.11346+4T>A rs1039538127
NM_182914.3(SYNE2):c.11346+6G>A
NM_182914.3(SYNE2):c.11367A>C (p.Glu3789Asp) rs762999027
NM_182914.3(SYNE2):c.11390C>T (p.Thr3797Ile)
NM_182914.3(SYNE2):c.113C>T (p.Thr38Met)
NM_182914.3(SYNE2):c.11410A>G (p.Thr3804Ala)
NM_182914.3(SYNE2):c.11411C>T (p.Thr3804Ile)
NM_182914.3(SYNE2):c.11446T>C (p.Ser3816Pro)
NM_182914.3(SYNE2):c.11462G>A (p.Ser3821Asn) rs1555469449
NM_182914.3(SYNE2):c.11484+1G>T
NM_182914.3(SYNE2):c.11498del (p.Asp3833fs)
NM_182914.3(SYNE2):c.114G>A (p.Thr38=) rs369020126
NM_182914.3(SYNE2):c.11531T>A (p.Ile3844Asn) rs566279122
NM_182914.3(SYNE2):c.11545G>A (p.Glu3849Lys)
NM_182914.3(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly) rs1555473349
NM_182914.3(SYNE2):c.11557A>G (p.Ile3853Val)
NM_182914.3(SYNE2):c.11592A>G (p.Ile3864Met)
NM_182914.3(SYNE2):c.11608C>G (p.Gln3870Glu)
NM_182914.3(SYNE2):c.11609A>G (p.Gln3870Arg)
NM_182914.3(SYNE2):c.11615C>T (p.Thr3872Ile) rs1595432634
NM_182914.3(SYNE2):c.11637G>C (p.Met3879Ile)
NM_182914.3(SYNE2):c.11641A>T (p.Ser3881Cys) rs2153622293
NM_182914.3(SYNE2):c.11645_11647dup (p.Leu3882dup) rs2153622305
NM_182914.3(SYNE2):c.11652G>T (p.Gln3884His) rs2097575346
NM_182914.3(SYNE2):c.1168C>T (p.Pro390Ser)
NM_182914.3(SYNE2):c.11704A>C (p.Met3902Leu)
NM_182914.3(SYNE2):c.11704A>G (p.Met3902Val) rs909725905
NM_182914.3(SYNE2):c.1171C>A (p.Pro391Thr)
NM_182914.3(SYNE2):c.11729A>G (p.Lys3910Arg) rs142616444
NM_182914.3(SYNE2):c.11729A>T (p.Lys3910Ile) rs142616444
NM_182914.3(SYNE2):c.1177C>T (p.His393Tyr) rs2096545410
NM_182914.3(SYNE2):c.11798T>C (p.Ile3933Thr) rs752738016
NM_182914.3(SYNE2):c.11807A>G (p.Asn3936Ser)
NM_182914.3(SYNE2):c.11812C>T (p.Arg3938Cys)
NM_182914.3(SYNE2):c.11834C>T (p.Ala3945Val) rs756937805
NM_182914.3(SYNE2):c.11854G>A (p.Val3952Met) rs758155150
NM_182914.3(SYNE2):c.11855T>A (p.Val3952Glu)
NM_182914.3(SYNE2):c.11873A>G (p.Gln3958Arg)
NM_182914.3(SYNE2):c.11876C>G (p.Thr3959Arg)
NM_182914.3(SYNE2):c.11881A>C (p.Met3961Leu)
NM_182914.3(SYNE2):c.11900T>G (p.Phe3967Cys) rs1567266829
NM_182914.3(SYNE2):c.11911A>G (p.Asn3971Asp)
NM_182914.3(SYNE2):c.11930_11932dup (p.Ile3977_Lys3978insIle)
NM_182914.3(SYNE2):c.11931A>G (p.Ile3977Met) rs1316072697
NM_182914.3(SYNE2):c.11950A>T (p.Thr3984Ser)
NM_182914.3(SYNE2):c.11976+5G>A rs772490248
NM_182914.3(SYNE2):c.11977-4A>G
NM_182914.3(SYNE2):c.11993C>T (p.Thr3998Ile) rs886050585
NM_182914.3(SYNE2):c.11996A>G (p.Asn3999Ser) rs1232744942
NM_182914.3(SYNE2):c.12014T>C (p.Ile4005Thr)
NM_182914.3(SYNE2):c.12037A>T (p.Asn4013Tyr) rs1555478028
NM_182914.3(SYNE2):c.12057C>A (p.Phe4019Leu)
NM_182914.3(SYNE2):c.12061C>T (p.Leu4021Phe)
NM_182914.3(SYNE2):c.12064G>A (p.Glu4022Lys) rs886050586
NM_182914.3(SYNE2):c.12066A>G (p.Glu4022=) rs755552590
NM_182914.3(SYNE2):c.12077C>G (p.Pro4026Arg) rs1009708251
NM_182914.3(SYNE2):c.12089_12096dup (p.Pro4033fs)
NM_182914.3(SYNE2):c.1209A>C (p.Glu403Asp)
NM_182914.3(SYNE2):c.12103C>G (p.Leu4035Val) rs1395737115
NM_182914.3(SYNE2):c.12125T>C (p.Met4042Thr) rs2097691016
NM_182914.3(SYNE2):c.12167T>G (p.Leu4056Arg) rs2153635602
NM_182914.3(SYNE2):c.12209A>G (p.His4070Arg) rs2153635653
NM_182914.3(SYNE2):c.12215A>G (p.Lys4072Arg)
NM_182914.3(SYNE2):c.12224AAG[1] (p.Glu4076del) rs748493867
NM_182914.3(SYNE2):c.12226G>A (p.Glu4076Lys) rs1567288490
NM_182914.3(SYNE2):c.12229G>A (p.Gly4077Arg)
NM_182914.3(SYNE2):c.12239G>A (p.Arg4080Lys) rs886042419
NM_182914.3(SYNE2):c.12243T>A (p.Asp4081Glu)
NM_182914.3(SYNE2):c.12244A>G (p.Arg4082Gly)
NM_182914.3(SYNE2):c.12253G>A (p.Ala4085Thr) rs772564360
NM_182914.3(SYNE2):c.12254C>T (p.Ala4085Val) rs2153635686
NM_182914.3(SYNE2):c.12274G>A (p.Gly4092Arg)
NM_182914.3(SYNE2):c.12287G>A (p.Arg4096Lys)
NM_182914.3(SYNE2):c.12295T>C (p.Ser4099Pro)
NM_182914.3(SYNE2):c.12299A>C (p.Glu4100Ala) rs779963258
NM_182914.3(SYNE2):c.12299A>T (p.Glu4100Val)
NM_182914.3(SYNE2):c.12301C>T (p.Arg4101Trp)
NM_182914.3(SYNE2):c.12307-2A>G
NM_182914.3(SYNE2):c.12311A>C (p.Asn4104Thr) rs886050587
NM_182914.3(SYNE2):c.12314G>A (p.Arg4105Lys) rs2097697463
NM_182914.3(SYNE2):c.12320G>C (p.Gly4107Ala)
NM_182914.3(SYNE2):c.12325A>G (p.Met4109Val) rs1296085055
NM_182914.3(SYNE2):c.12350A>G (p.Glu4117Gly)
NM_182914.3(SYNE2):c.12356T>G (p.Val4119Gly) rs932903871
NM_182914.3(SYNE2):c.12370G>A (p.Val4124Met) rs370255444
NM_182914.3(SYNE2):c.1238C>A (p.Ser413Tyr)
NM_182914.3(SYNE2):c.12397G>C (p.Ala4133Pro) rs758104840
NM_182914.3(SYNE2):c.1240C>T (p.Gln414Ter)
NM_182914.3(SYNE2):c.12413A>T (p.Gln4138Leu)
NM_182914.3(SYNE2):c.12424T>A (p.Ser4142Thr)
NM_182914.3(SYNE2):c.12445G>T (p.Asp4149Tyr) rs1555485325
NM_182914.3(SYNE2):c.12457G>C (p.Asp4153His) rs1595531126
NM_182914.3(SYNE2):c.12470C>T (p.Ser4157Leu) rs1567303775
NM_182914.3(SYNE2):c.12475T>C (p.Ser4159Pro)
NM_182914.3(SYNE2):c.1247A>T (p.His416Leu)
NM_182914.3(SYNE2):c.12485T>C (p.Ile4162Thr)
NM_182914.3(SYNE2):c.1248C>G (p.His416Gln)
NM_182914.3(SYNE2):c.124A>G (p.Asn42Asp)
NM_182914.3(SYNE2):c.12508A>G (p.Ile4170Val) rs2153650321
NM_182914.3(SYNE2):c.1255G>A (p.Ala419Thr)
NM_182914.3(SYNE2):c.12569A>C (p.Gln4190Pro) rs1178890933
NM_182914.3(SYNE2):c.12609+1G>T rs745516407
NM_182914.3(SYNE2):c.12610G>T (p.Gly4204Cys) rs886050588
NM_182914.3(SYNE2):c.12613A>C (p.Thr4205Pro) rs1421677072
NM_182914.3(SYNE2):c.12620C>T (p.Pro4207Leu)
NM_182914.3(SYNE2):c.12623C>T (p.Pro4208Leu)
NM_182914.3(SYNE2):c.12625A>G (p.Ile4209Val)
NM_182914.3(SYNE2):c.12637A>C (p.Thr4213Pro) rs886050589
NM_182914.3(SYNE2):c.12647C>G (p.Ser4216Cys)
NM_182914.3(SYNE2):c.12655G>C (p.Ala4219Pro) rs138644399
NM_182914.3(SYNE2):c.1269A>G (p.Ile423Met)
NM_182914.3(SYNE2):c.12703A>G (p.Thr4235Ala) rs2153657597
NM_182914.3(SYNE2):c.12726G>T (p.Lys4242Asn)
NM_182914.3(SYNE2):c.12742C>G (p.Leu4248Val)
NM_182914.3(SYNE2):c.12747G>T (p.Glu4249Asp)
NM_182914.3(SYNE2):c.12757C>G (p.Gln4253Glu)
NM_182914.3(SYNE2):c.12764C>T (p.Ala4255Val)
NM_182914.3(SYNE2):c.12766A>C (p.Asn4256His)
NM_182914.3(SYNE2):c.12776T>C (p.Val4259Ala)
NM_182914.3(SYNE2):c.12799G>A (p.Asp4267Asn) rs1274566063
NM_182914.3(SYNE2):c.12840+12A>G rs886050591
NM_182914.3(SYNE2):c.12840+1G>A rs2097829846
NM_182914.3(SYNE2):c.1294-3C>T
NM_182914.3(SYNE2):c.12964G>T (p.Val4322Leu)
NM_182914.3(SYNE2):c.12965T>C (p.Val4322Ala)
NM_182914.3(SYNE2):c.13001A>G (p.Gln4334Arg)
NM_182914.3(SYNE2):c.13015G>A (p.Glu4339Lys)
NM_182914.3(SYNE2):c.13020_13023+12delinsGATCT rs1555495562
NM_182914.3(SYNE2):c.13020_13023+9del
NM_182914.3(SYNE2):c.13022A>G (p.Gln4341Arg) rs773368959
NM_182914.3(SYNE2):c.13033A>G (p.Ile4345Val)
NM_182914.3(SYNE2):c.13128C>G (p.Phe4376Leu)
NM_182914.3(SYNE2):c.13141G>T (p.Asp4381Tyr) rs1595663501
NM_182914.3(SYNE2):c.13159G>A (p.Val4387Ile)
NM_182914.3(SYNE2):c.13159G>C (p.Val4387Leu) rs764515386
NM_182914.3(SYNE2):c.13159G>T (p.Val4387Phe)
NM_182914.3(SYNE2):c.13188A>T (p.Lys4396Asn)
NM_182914.3(SYNE2):c.13234C>T (p.Gln4412Ter) rs1427446795
NM_182914.3(SYNE2):c.13291T>A (p.Ser4431Thr)
NM_182914.3(SYNE2):c.13312C>T (p.Pro4438Ser)
NM_182914.3(SYNE2):c.13335G>C (p.Gln4445His)
NM_182914.3(SYNE2):c.13366C>T (p.His4456Tyr)
NM_182914.3(SYNE2):c.13371T>G (p.His4457Gln) rs778640413
NM_182914.3(SYNE2):c.1338C>T (p.Thr446=)
NM_182914.3(SYNE2):c.13423-5A>G rs2153670816
NM_182914.3(SYNE2):c.13453G>A (p.Val4485Met)
NM_182914.3(SYNE2):c.13467C>T (p.Asn4489=)
NM_182914.3(SYNE2):c.13489G>T (p.Glu4497Ter) rs1350663000
NM_182914.3(SYNE2):c.13526G>A (p.Arg4509His) rs200946949
NM_182914.3(SYNE2):c.1352A>G (p.Asp451Gly)
NM_182914.3(SYNE2):c.13549A>G (p.Thr4517Ala) rs980737727
NM_182914.3(SYNE2):c.13554+3A>G
NM_182914.3(SYNE2):c.13554+6del rs772829991
NM_182914.3(SYNE2):c.13562T>C (p.Met4521Thr)
NM_182914.3(SYNE2):c.13576T>C (p.Tyr4526His)
NM_182914.3(SYNE2):c.13577A>G (p.Tyr4526Cys)
NM_182914.3(SYNE2):c.13583A>C (p.Asn4528Thr)
NM_182914.3(SYNE2):c.13583A>G (p.Asn4528Ser)
NM_182914.3(SYNE2):c.13588G>T (p.Asp4530Tyr)
NM_182914.3(SYNE2):c.13612C>T (p.Leu4538=) rs775368857
NM_182914.3(SYNE2):c.13645del (p.Glu4549fs) rs2097945797
NM_182914.3(SYNE2):c.13660C>G (p.Pro4554Ala)
NM_182914.3(SYNE2):c.13664G>C (p.Arg4555Thr)
NM_182914.3(SYNE2):c.13675G>A (p.Glu4559Lys)
NM_182914.3(SYNE2):c.13687G>C (p.Gly4563Arg) rs1595697916
NM_182914.3(SYNE2):c.13688G>A (p.Gly4563Asp) rs749516915
NM_182914.3(SYNE2):c.13697T>C (p.Val4566Ala) rs2097946367
NM_182914.3(SYNE2):c.13705_13706delinsTT (p.Glu4569Leu) rs2153672414
NM_182914.3(SYNE2):c.1372G>C (p.Val458Leu)
NM_182914.3(SYNE2):c.13747A>C (p.Ser4583Arg) rs886042291
NM_182914.3(SYNE2):c.13760G>A (p.Gly4587Asp)
NM_182914.3(SYNE2):c.13775C>T (p.Ala4592Val) rs2153672678
NM_182914.3(SYNE2):c.13777A>T (p.Met4593Leu) rs777253540
NM_182914.3(SYNE2):c.1379C>T (p.Pro460Leu)
NM_182914.3(SYNE2):c.13826A>G (p.Asn4609Ser)
NM_182914.3(SYNE2):c.13838G>C (p.Cys4613Ser)
NM_182914.3(SYNE2):c.13858G>C (p.Ala4620Pro) rs778607522
NM_182914.3(SYNE2):c.13875C>T (p.Ser4625=) rs762342233
NM_182914.3(SYNE2):c.1388T>G (p.Leu463Trp)
NM_182914.3(SYNE2):c.13904A>G (p.Asn4635Ser)
NM_182914.3(SYNE2):c.13906C>T (p.Arg4636Cys) rs767673156
NM_182914.3(SYNE2):c.13918-3C>T
NM_182914.3(SYNE2):c.13919A>G (p.Asn4640Ser)
NM_182914.3(SYNE2):c.13945C>T (p.Leu4649Phe)
NM_182914.3(SYNE2):c.13953G>A (p.Lys4651=)
NM_182914.3(SYNE2):c.1398G>T (p.Met466Ile) rs2096557553
NM_182914.3(SYNE2):c.14003T>C (p.Val4668Ala)
NM_182914.3(SYNE2):c.14044C>G (p.Leu4682Val) rs184218195
NM_182914.3(SYNE2):c.14050A>G (p.Asn4684Asp)
NM_182914.3(SYNE2):c.14053G>T (p.Ala4685Ser) rs779457100
NM_182914.3(SYNE2):c.1405C>T (p.Arg469Ter) rs772555259
NM_182914.3(SYNE2):c.140G>A (p.Arg47Lys)
NM_182914.3(SYNE2):c.14117T>C (p.Leu4706Pro) rs2097995502
NM_182914.3(SYNE2):c.14120AGG[1] (p.Glu4708del)
NM_182914.3(SYNE2):c.1412A>G (p.Asn471Ser) rs1596005286
NM_182914.3(SYNE2):c.14146C>T (p.Leu4716Phe)
NM_182914.3(SYNE2):c.14157G>A (p.Met4719Ile) rs140797941
NM_182914.3(SYNE2):c.14157G>T (p.Met4719Ile) rs140797941
NM_182914.3(SYNE2):c.14178G>T (p.Arg4726Ser)
NM_182914.3(SYNE2):c.14179T>G (p.Tyr4727Asp) rs2097999211
NM_182914.3(SYNE2):c.14198C>G (p.Pro4733Arg)
NM_182914.3(SYNE2):c.14224G>C (p.Ala4742Pro) rs768191476
NM_182914.3(SYNE2):c.14237G>T (p.Gly4746Val) rs2153678880
NM_182914.3(SYNE2):c.14239A>C (p.Met4747Leu)
NM_182914.3(SYNE2):c.14257A>G (p.Ile4753Val) rs886042776
NM_182914.3(SYNE2):c.14258T>C (p.Ile4753Thr)
NM_182914.3(SYNE2):c.14279A>G (p.His4760Arg) rs1006840235
NM_182914.3(SYNE2):c.14292_14296del (p.Lys4764fs)
NM_182914.3(SYNE2):c.1432T>A (p.Phe478Ile)
NM_182914.3(SYNE2):c.14354A>G (p.Lys4785Arg) rs2153681761
NM_182914.3(SYNE2):c.14369T>C (p.Met4790Thr) rs2153681775
NM_182914.3(SYNE2):c.14371TTG[1] (p.Leu4792del)
NM_182914.3(SYNE2):c.14378T>C (p.Ile4793Thr) rs1281282356
NM_182914.3(SYNE2):c.14381A>G (p.Gln4794Arg)
NM_182914.3(SYNE2):c.14414T>C (p.Leu4805Ser) rs2153681833
NM_182914.3(SYNE2):c.14421C>G (p.Asn4807Lys)
NM_182914.3(SYNE2):c.1444C>G (p.Leu482Val)
NM_182914.3(SYNE2):c.14480G>A (p.Arg4827His)
NM_182914.3(SYNE2):c.14491A>G (p.Met4831Val)
NM_182914.3(SYNE2):c.14527T>C (p.Phe4843Leu) rs1357447966
NM_182914.3(SYNE2):c.14560C>G (p.Leu4854Val) rs1475889359
NM_182914.3(SYNE2):c.14561T>G (p.Leu4854Arg)
NM_182914.3(SYNE2):c.14609C>G (p.Thr4870Arg)
NM_182914.3(SYNE2):c.1460A>G (p.Tyr487Cys)
NM_182914.3(SYNE2):c.14617A>G (p.Arg4873Gly) rs2153684012
NM_182914.3(SYNE2):c.14644C>T (p.Gln4882Ter) rs1555503635
NM_182914.3(SYNE2):c.14662A>G (p.Ile4888Val)
NM_182914.3(SYNE2):c.14676C>A (p.His4892Gln) rs375987275
NM_182914.3(SYNE2):c.14680C>T (p.Arg4894Trp)
NM_182914.3(SYNE2):c.146C>G (p.Thr49Ser) rs754768287
NM_182914.3(SYNE2):c.14703A>T (p.Glu4901Asp)
NM_182914.3(SYNE2):c.14715G>C (p.Leu4905Phe) rs2098107665
NM_182914.3(SYNE2):c.1471G>A (p.Val491Ile) rs1596005659
NM_182914.3(SYNE2):c.14732G>A (p.Cys4911Tyr)
NM_182914.3(SYNE2):c.14792A>C (p.Lys4931Thr)
NM_182914.3(SYNE2):c.14797G>C (p.Asp4933His)
NM_182914.3(SYNE2):c.14798A>G (p.Asp4933Gly) rs2153688211
NM_182914.3(SYNE2):c.14812A>G (p.Arg4938Gly) rs1258752132
NM_182914.3(SYNE2):c.14900T>C (p.Leu4967Pro) rs1555506605
NM_182914.3(SYNE2):c.14927A>G (p.Asn4976Ser) rs148883036
NM_182914.3(SYNE2):c.14938G>C (p.Asp4980His)
NM_182914.3(SYNE2):c.14944G>C (p.Asp4982His)
NM_182914.3(SYNE2):c.14966A>G (p.Asn4989Ser)
NM_182914.3(SYNE2):c.14975T>G (p.Phe4992Cys)
NM_182914.3(SYNE2):c.14986A>G (p.Lys4996Glu)
NM_182914.3(SYNE2):c.1498T>A (p.Ser500Thr) rs2153471030
NM_182914.3(SYNE2):c.14993T>G (p.Val4998Gly) rs1463128504
NM_182914.3(SYNE2):c.15008C>T (p.Ser5003Phe)
NM_182914.3(SYNE2):c.15013A>G (p.Lys5005Glu)
NM_182914.3(SYNE2):c.15017C>T (p.Thr5006Ile) rs1334553031
NM_182914.3(SYNE2):c.15022G>A (p.Val5008Ile)
NM_182914.3(SYNE2):c.15034G>A (p.Gly5012Arg)
NM_182914.3(SYNE2):c.15050A>T (p.His5017Leu) rs1387380431
NM_182914.3(SYNE2):c.15052C>G (p.Leu5018Val)
NM_182914.3(SYNE2):c.15092C>A (p.Ala5031Glu) rs2098138765
NM_182914.3(SYNE2):c.15115A>G (p.Met5039Val)
NM_182914.3(SYNE2):c.15142C>G (p.Gln5048Glu) rs2153692395
NM_182914.3(SYNE2):c.15154C>T (p.His5052Tyr) rs142758563
NM_182914.3(SYNE2):c.15156C>A (p.His5052Gln)
NM_182914.3(SYNE2):c.15159+2T>G
NM_182914.3(SYNE2):c.15181T>A (p.Ser5061Thr)
NM_182914.3(SYNE2):c.15189A>C (p.Lys5063Asn) rs2098142550
NM_182914.3(SYNE2):c.15216G>A (p.Met5072Ile)
NM_182914.3(SYNE2):c.15229C>T (p.His5077Tyr)
NM_182914.3(SYNE2):c.15233A>C (p.Gln5078Pro) rs751092033
NM_182914.3(SYNE2):c.15243T>G (p.Asp5081Glu) rs1439636138
NM_182914.3(SYNE2):c.15263C>A (p.Pro5088Gln) rs779934215
NM_182914.3(SYNE2):c.15274T>C (p.Ser5092Pro)
NM_182914.3(SYNE2):c.15277C>G (p.Gln5093Glu)
NM_182914.3(SYNE2):c.15290T>A (p.Leu5097His)
NM_182914.3(SYNE2):c.15306+2T>G
NM_182914.3(SYNE2):c.15307G>C (p.Glu5103Gln)
NM_182914.3(SYNE2):c.15316A>G (p.Met5106Val) rs376851893
NM_182914.3(SYNE2):c.15352G>C (p.Val5118Leu)
NM_182914.3(SYNE2):c.15386A>T (p.Asp5129Val)
NM_182914.3(SYNE2):c.15400C>T (p.Arg5134Cys)
NM_182914.3(SYNE2):c.15401G>A (p.Arg5134His)
NM_182914.3(SYNE2):c.15407A>G (p.Glu5136Gly) rs2098160730
NM_182914.3(SYNE2):c.15412A>G (p.Thr5138Ala)
NM_182914.3(SYNE2):c.15419T>C (p.Phe5140Ser)
NM_182914.3(SYNE2):c.15424G>A (p.Glu5142Lys) rs777915070
NM_182914.3(SYNE2):c.15429C>G (p.His5143Gln)
NM_182914.3(SYNE2):c.15436dup (p.Glu5146fs)
NM_182914.3(SYNE2):c.15441G>T (p.Met5147Ile) rs2098161023
NM_182914.3(SYNE2):c.15446G>T (p.Arg5149Leu) rs142206385
NM_182914.3(SYNE2):c.15457C>A (p.Arg5153Ser)
NM_182914.3(SYNE2):c.15471G>T (p.Met5157Ile) rs774589129
NM_182914.3(SYNE2):c.15527A>T (p.Glu5176Val) rs1595828652
NM_182914.3(SYNE2):c.15556_15557delinsAC (p.Leu5186Thr) rs2153697219
NM_182914.3(SYNE2):c.15575G>T (p.Arg5192Ile)
NM_182914.3(SYNE2):c.15599A>G (p.Glu5200Gly) rs2153697258
NM_182914.3(SYNE2):c.15603T>G (p.Ser5201Arg)
NM_182914.3(SYNE2):c.15611C>T (p.Ser5204Leu)
NM_182914.3(SYNE2):c.15645A>G (p.Ile5215Met) rs2153704568
NM_182914.3(SYNE2):c.1566G>T (p.Trp522Cys)
NM_182914.3(SYNE2):c.1569+2T>G rs1029219568
NM_182914.3(SYNE2):c.15724C>T (p.Pro5242Ser) rs2153704617
NM_182914.3(SYNE2):c.1573T>C (p.Phe525Leu)
NM_182914.3(SYNE2):c.1574T>G (p.Phe525Cys) rs2096578814
NM_182914.3(SYNE2):c.15763T>C (p.Phe5255Leu)
NM_182914.3(SYNE2):c.15779G>C (p.Ser5260Thr)
NM_182914.3(SYNE2):c.15792+3A>G
NM_182914.3(SYNE2):c.15812C>A (p.Ser5271Tyr)
NM_182914.3(SYNE2):c.15818A>G (p.Gln5273Arg)
NM_182914.3(SYNE2):c.15869_15877del (p.Asn5290_Met5292del) rs2098305444
NM_182914.3(SYNE2):c.15878C>T (p.Thr5293Ile)
NM_182914.3(SYNE2):c.15884G>T (p.Arg5295Leu) rs769633528
NM_182914.3(SYNE2):c.15909C>A (p.Ser5303Arg)
NM_182914.3(SYNE2):c.15916G>A (p.Val5306Met)
NM_182914.3(SYNE2):c.1595T>C (p.Leu532Pro)
NM_182914.3(SYNE2):c.15965C>T (p.Ser5322Phe)
NM_182914.3(SYNE2):c.1601G>A (p.Arg534Gln)
NM_182914.3(SYNE2):c.16034A>G (p.Lys5345Arg)
NM_182914.3(SYNE2):c.16037G>A (p.Gly5346Asp) rs751652922
NM_182914.3(SYNE2):c.16066G>A (p.Glu5356Lys)
NM_182914.3(SYNE2):c.16094+1G>A
NM_182914.3(SYNE2):c.16117A>G (p.Ile5373Val) rs139545002
NM_182914.3(SYNE2):c.16141C>T (p.Gln5381Ter) rs2153715425
NM_182914.3(SYNE2):c.16160G>C (p.Trp5387Ser)
NM_182914.3(SYNE2):c.16169A>G (p.Tyr5390Cys)
NM_182914.3(SYNE2):c.16169A>T (p.Tyr5390Phe)
NM_182914.3(SYNE2):c.16178C>G (p.Ala5393Gly)
NM_182914.3(SYNE2):c.16234G>A (p.Ala5412Thr)
NM_182914.3(SYNE2):c.16270A>T (p.Ile5424Phe) rs2098335261
NM_182914.3(SYNE2):c.16288C>G (p.Gln5430Glu)
NM_182914.3(SYNE2):c.16294A>G (p.Ile5432Val)
NM_182914.3(SYNE2):c.16300G>A (p.Glu5434Lys) rs886050594
NM_182914.3(SYNE2):c.16302G>T (p.Glu5434Asp)
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del) rs751691446
NM_182914.3(SYNE2):c.16339C>T (p.Leu5447Phe) rs2153717796
NM_182914.3(SYNE2):c.16348T>G (p.Ser5450Ala) rs916780390
NM_182914.3(SYNE2):c.16349C>G (p.Ser5450Cys) rs757857559
NM_182914.3(SYNE2):c.16364G>T (p.Arg5455Leu)
NM_182914.3(SYNE2):c.16385C>T (p.Ser5462Phe)
NM_182914.3(SYNE2):c.16390A>G (p.Thr5464Ala)
NM_182914.3(SYNE2):c.16411C>G (p.Pro5471Ala)
NM_182914.3(SYNE2):c.16417C>T (p.His5473Tyr)
NM_182914.3(SYNE2):c.16449G>C (p.Lys5483Asn) rs1324537542
NM_182914.3(SYNE2):c.16451T>C (p.Met5484Thr)
NM_182914.3(SYNE2):c.16456C>T (p.Leu5486Phe)
NM_182914.3(SYNE2):c.16468A>C (p.Asn5490His) rs776258589
NM_182914.3(SYNE2):c.16480-1G>A rs1595931919
NM_182914.3(SYNE2):c.16505T>C (p.Phe5502Ser)
NM_182914.3(SYNE2):c.16510G>A (p.Val5504Ile) rs1405152996
NM_182914.3(SYNE2):c.16514G>A (p.Arg5505Gln) rs552897930
NM_182914.3(SYNE2):c.16524T>C (p.Ser5508=) rs2098368173
NM_182914.3(SYNE2):c.16526T>C (p.Leu5509Ser)
NM_182914.3(SYNE2):c.16554G>C (p.Glu5518Asp)
NM_182914.3(SYNE2):c.16568T>G (p.Leu5523Arg) rs2153721084
NM_182914.3(SYNE2):c.16572_16574del (p.His5524del) rs1176126760
NM_182914.3(SYNE2):c.16573C>A (p.Gln5525Lys)
NM_182914.3(SYNE2):c.16589A>G (p.Asn5530Ser) rs1040531942
NM_182914.3(SYNE2):c.16595A>T (p.Asp5532Val)
NM_182914.3(SYNE2):c.16604T>A (p.Leu5535Gln) rs2098368827
NM_182914.3(SYNE2):c.16605+9A>G rs775937516
NM_182914.3(SYNE2):c.16607A>G (p.Asn5536Ser)
NM_182914.3(SYNE2):c.16636C>A (p.Pro5546Thr)
NM_182914.3(SYNE2):c.16642A>G (p.Ile5548Val)
NM_182914.3(SYNE2):c.16653G>T (p.Leu5551Phe)
NM_182914.3(SYNE2):c.16718G>T (p.Arg5573Leu)
NM_182914.3(SYNE2):c.16721A>G (p.Gln5574Arg)
NM_182914.3(SYNE2):c.16729C>T (p.Arg5577Trp)
NM_182914.3(SYNE2):c.1672A>G (p.Lys558Glu) rs761401589
NM_182914.3(SYNE2):c.16734CACGGC[1] (p.5579TA[1])
NM_182914.3(SYNE2):c.16736C>T (p.Thr5579Met)
NM_182914.3(SYNE2):c.16742C>T (p.Thr5581Met)
NM_182914.3(SYNE2):c.16761-10A>G rs2098386877
NM_182914.3(SYNE2):c.1676A>G (p.Gln559Arg) rs764895998
NM_182914.3(SYNE2):c.16772G>T (p.Gly5591Val)
NM_182914.3(SYNE2):c.16816A>G (p.Ile5606Val) rs1595946488
NM_182914.3(SYNE2):c.16837G>A (p.Glu5613Lys) rs2153723228
NM_182914.3(SYNE2):c.16845A>G (p.Ala5615=) rs1056275153
NM_182914.3(SYNE2):c.16855G>A (p.Asp5619Asn) rs1220986968
NM_182914.3(SYNE2):c.16905+2T>A rs2098387803
NM_182914.3(SYNE2):c.16908G>A (p.Met5636Ile)
NM_182914.3(SYNE2):c.16922T>C (p.Val5641Ala)
NM_182914.3(SYNE2):c.16924T>C (p.Ser5642Pro) rs145661639
NM_182914.3(SYNE2):c.16924T>G (p.Ser5642Ala) rs145661639
NM_182914.3(SYNE2):c.16939A>G (p.Ile5647Val)
NM_182914.3(SYNE2):c.16952A>T (p.Tyr5651Phe)
NM_182914.3(SYNE2):c.16981A>T (p.Thr5661Ser)
NM_182914.3(SYNE2):c.16994A>T (p.Glu5665Val)
NM_182914.3(SYNE2):c.17001-8T>C rs768210935
NM_182914.3(SYNE2):c.17001A>G (p.Arg5667=)
NM_182914.3(SYNE2):c.1700T>C (p.Val567Ala)
NM_182914.3(SYNE2):c.17012T>C (p.Ile5671Thr)
NM_182914.3(SYNE2):c.17026A>G (p.Lys5676Glu)
NM_182914.3(SYNE2):c.1703G>T (p.Cys568Phe)
NM_182914.3(SYNE2):c.17065C>T (p.Arg5689Trp)
NM_182914.3(SYNE2):c.17066G>A (p.Arg5689Gln) rs574093957
NM_182914.3(SYNE2):c.17068C>A (p.Gln5690Lys)
NM_182914.3(SYNE2):c.17083G>A (p.Val5695Ile)
NM_182914.3(SYNE2):c.17119A>T (p.Thr5707Ser)
NM_182914.3(SYNE2):c.17125G>T (p.Val5709Leu) rs753925813
NM_182914.3(SYNE2):c.17150C>G (p.Thr5717Ser)
NM_182914.3(SYNE2):c.17183G>A (p.Gly5728Asp)
NM_182914.3(SYNE2):c.17189A>G (p.Glu5730Gly)
NM_182914.3(SYNE2):c.17200C>G (p.Leu5734Val)
NM_182914.3(SYNE2):c.17235+1_17235+4del
NM_182914.3(SYNE2):c.17249A>G (p.His5750Arg)
NM_182914.3(SYNE2):c.17293G>A (p.Gly5765Arg)
NM_182914.3(SYNE2):c.17328T>C (p.Thr5776=) rs2098427126
NM_182914.3(SYNE2):c.17403G>A (p.Met5801Ile) rs2098427539
NM_182914.3(SYNE2):c.17403G>C (p.Met5801Ile)
NM_182914.3(SYNE2):c.17431A>G (p.Thr5811Ala) rs1596007501
NM_182914.3(SYNE2):c.17441A>G (p.Gln5814Arg)
NM_182914.3(SYNE2):c.17454A>T (p.Lys5818Asn)
NM_182914.3(SYNE2):c.17474G>C (p.Arg5825Thr)
NM_182914.3(SYNE2):c.17523C>A (p.His5841Gln)
NM_182914.3(SYNE2):c.17539G>C (p.Glu5847Gln) rs201427580
NM_182914.3(SYNE2):c.17549T>C (p.Leu5850Pro)
NM_182914.3(SYNE2):c.17552T>G (p.Ile5851Ser)
NM_182914.3(SYNE2):c.17554A>C (p.Lys5852Gln) rs886043099
NM_182914.3(SYNE2):c.17557G>A (p.Glu5853Lys)
NM_182914.3(SYNE2):c.17557G>C (p.Glu5853Gln) rs1158170304
NM_182914.3(SYNE2):c.17570C>A (p.Ser5857Tyr)
NM_182914.3(SYNE2):c.17576C>T (p.Ala5859Val)
NM_182914.3(SYNE2):c.17583G>T (p.Trp5861Cys)
NM_182914.3(SYNE2):c.17589_17590del (p.Asn5864fs) rs2098491533
NM_182914.3(SYNE2):c.17592C>G (p.Asn5864Lys)
NM_182914.3(SYNE2):c.1760G>T (p.Cys587Phe) rs1555410673
NM_182914.3(SYNE2):c.17618C>T (p.Ala5873Val)
NM_182914.3(SYNE2):c.17629C>T (p.Arg5877Trp)
NM_182914.3(SYNE2):c.17653A>G (p.Met5885Val)
NM_182914.3(SYNE2):c.17672T>C (p.Ile5891Thr) rs1208826730
NM_182914.3(SYNE2):c.17712+1G>T
NM_182914.3(SYNE2):c.17712+5G>A
NM_182914.3(SYNE2):c.17712G>A (p.Arg5904=)
NM_182914.3(SYNE2):c.17713-2A>G
NM_182914.3(SYNE2):c.17722C>T (p.Arg5908Cys) rs201147247
NM_182914.3(SYNE2):c.1774G>C (p.Val592Leu) rs2153473289
NM_182914.3(SYNE2):c.1774G>T (p.Val592Leu) rs2153473289
NM_182914.3(SYNE2):c.17768A>G (p.Asn5923Ser)
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=) rs572217007
NM_182914.3(SYNE2):c.17812A>G (p.Asn5938Asp)
NM_182914.3(SYNE2):c.17815A>C (p.Lys5939Gln)
NM_182914.3(SYNE2):c.17836A>T (p.Ile5946Phe)
NM_182914.3(SYNE2):c.1786C>A (p.Arg596Ser)
NM_182914.3(SYNE2):c.1786C>T (p.Arg596Cys)
NM_182914.3(SYNE2):c.1787G>A (p.Arg596His) rs764379968
NM_182914.3(SYNE2):c.17889A>G (p.Ile5963Met)
NM_182914.3(SYNE2):c.17902G>C (p.Glu5968Gln)
NM_182914.3(SYNE2):c.17908A>T (p.Lys5970Ter) rs2098511234
NM_182914.3(SYNE2):c.17927T>C (p.Met5976Thr)
NM_182914.3(SYNE2):c.1792C>A (p.Leu598Ile)
NM_182914.3(SYNE2):c.17940G>T (p.Leu5980Phe) rs778928941
NM_182914.3(SYNE2):c.17953A>G (p.Asn5985Asp)
NM_182914.3(SYNE2):c.18005G>T (p.Arg6002Leu) rs764566778
NM_182914.3(SYNE2):c.18015T>G (p.His6005Gln) rs1323946751
NM_182914.3(SYNE2):c.18028A>G (p.Ile6010Val)
NM_182914.3(SYNE2):c.18039-3T>C
NM_182914.3(SYNE2):c.18075G>A (p.Gln6025=)
NM_182914.3(SYNE2):c.18085A>G (p.Lys6029Glu) rs1016575974
NM_182914.3(SYNE2):c.18091A>G (p.Met6031Val) rs2098581525
NM_182914.3(SYNE2):c.18098A>C (p.Asn6033Thr)
NM_182914.3(SYNE2):c.18103C>A (p.Arg6035Ser)
NM_182914.3(SYNE2):c.18114G>A (p.Leu6038=) rs1567630913
NM_182914.3(SYNE2):c.18119G>A (p.Arg6040Gln)
NM_182914.3(SYNE2):c.18121A>G (p.Ile6041Val) rs886050597
NM_182914.3(SYNE2):c.18137C>A (p.Ser6046Tyr)
NM_182914.3(SYNE2):c.18145GTT[1] (p.Val6050del)
NM_182914.3(SYNE2):c.18148G>A (p.Val6050Ile)
NM_182914.3(SYNE2):c.18165T>A (p.Asp6055Glu) rs1567631199
NM_182914.3(SYNE2):c.18169C>G (p.Gln6057Glu) rs919132800
NM_182914.3(SYNE2):c.1816A>C (p.Lys606Gln)
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.3(SYNE2):c.18190G>T (p.Ala6064Ser) rs182079744
NM_182914.3(SYNE2):c.1823A>G (p.Glu608Gly) rs765250294
NM_182914.3(SYNE2):c.18262G>A (p.Asp6088Asn)
NM_182914.3(SYNE2):c.18274C>T (p.His6092Tyr) rs891176573
NM_182914.3(SYNE2):c.18302C>T (p.Thr6101Ile)
NM_182914.3(SYNE2):c.18312_18316del (p.Ser6105fs) rs1177756267
NM_182914.3(SYNE2):c.18324G>T (p.Gln6108His) rs1761645258
NM_182914.3(SYNE2):c.18326C>T (p.Thr6109Ile) rs1248550076
NM_182914.3(SYNE2):c.1837-11G>A rs770407054
NM_182914.3(SYNE2):c.18389+15C>G
NM_182914.3(SYNE2):c.18390A>G (p.Lys6130=)
NM_182914.3(SYNE2):c.18394G>A (p.Glu6132Lys)
NM_182914.3(SYNE2):c.18394GAG[1] (p.Glu6133del)
NM_182914.3(SYNE2):c.18401C>T (p.Thr6134Met)
NM_182914.3(SYNE2):c.18417G>T (p.Gln6139His)
NM_182914.3(SYNE2):c.18427G>A (p.Asp6143Asn) rs2140144167
NM_182914.3(SYNE2):c.18473C>G (p.Thr6158Arg)
NM_182914.3(SYNE2):c.18497A>T (p.Glu6166Val)
NM_182914.3(SYNE2):c.18541-9G>A rs886050598
NM_182914.3(SYNE2):c.18553C>T (p.Gln6185Ter) rs1171077128
NM_182914.3(SYNE2):c.18560A>G (p.His6187Arg)
NM_182914.3(SYNE2):c.18576G>C (p.Gln6192His)
NM_182914.3(SYNE2):c.18601C>T (p.Arg6201Trp)
NM_182914.3(SYNE2):c.1860G>C (p.Gln620His)
NM_182914.3(SYNE2):c.18614G>A (p.Arg6205Gln)
NM_182914.3(SYNE2):c.18640A>G (p.Arg6214Gly) rs2098631907
NM_182914.3(SYNE2):c.18653T>C (p.Met6218Thr)
NM_182914.3(SYNE2):c.18661G>A (p.Glu6221Lys)
NM_182914.3(SYNE2):c.18662A>G (p.Glu6221Gly) rs1410409309
NM_182914.3(SYNE2):c.18674G>A (p.Arg6225His) rs749491228
NM_182914.3(SYNE2):c.18674G>T (p.Arg6225Leu)
NM_182914.3(SYNE2):c.1867C>G (p.Leu623Val) rs886050579
NM_182914.3(SYNE2):c.18691A>G (p.Arg6231Gly) rs2098632167
NM_182914.3(SYNE2):c.18767G>A (p.Ser6256Asn)
NM_182914.3(SYNE2):c.1876G>A (p.Ala626Thr) rs766378548
NM_182914.3(SYNE2):c.18789_18790del (p.Glu6263fs)
NM_182914.3(SYNE2):c.18796C>G (p.Leu6266Val)
NM_182914.3(SYNE2):c.18797T>G (p.Leu6266Arg)
NM_182914.3(SYNE2):c.1879A>G (p.Thr627Ala) rs1189381604
NM_182914.3(SYNE2):c.18826G>A (p.Glu6276Lys)
NM_182914.3(SYNE2):c.18829A>G (p.Ser6277Gly)
NM_182914.3(SYNE2):c.1882T>G (p.Leu628Val)
NM_182914.3(SYNE2):c.18861T>C (p.Asn6287=)
NM_182914.3(SYNE2):c.18877A>G (p.Ile6293Val)
NM_182914.3(SYNE2):c.18889A>T (p.Thr6297Ser)
NM_182914.3(SYNE2):c.18911T>C (p.Ile6304Thr)
NM_182914.3(SYNE2):c.18922G>A (p.Glu6308Lys)
NM_182914.3(SYNE2):c.18941G>T (p.Ser6314Ile) rs548600640
NM_182914.3(SYNE2):c.18943G>A (p.Glu6315Lys)
NM_182914.3(SYNE2):c.18991C>T (p.Arg6331Cys)
NM_182914.3(SYNE2):c.18998G>A (p.Cys6333Tyr) rs768044506
NM_182914.3(SYNE2):c.18G>C (p.Glu6Asp) rs2095442604
NM_182914.3(SYNE2):c.19011T>G (p.Phe6337Leu) rs761432348
NM_182914.3(SYNE2):c.19016G>A (p.Arg6339Lys)
NM_182914.3(SYNE2):c.19037G>T (p.Arg6346Leu) rs144633663
NM_182914.3(SYNE2):c.1903T>G (p.Leu635Val)
NM_182914.3(SYNE2):c.1909G>A (p.Glu637Lys)
NM_182914.3(SYNE2):c.19115A>T (p.Glu6372Val)
NM_182914.3(SYNE2):c.19159C>A (p.Pro6387Thr)
NM_182914.3(SYNE2):c.19219G>A (p.Glu6407Lys)
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=) rs772092387
NM_182914.3(SYNE2):c.19289C>G (p.Ser6430Cys) rs2098656312
NM_182914.3(SYNE2):c.19297G>C (p.Glu6433Gln)
NM_182914.3(SYNE2):c.19309G>A (p.Gly6437Ser)
NM_182914.3(SYNE2):c.1930_1931delinsAA (p.Gly644Lys)
NM_182914.3(SYNE2):c.19310G>A (p.Gly6437Asp) rs1555551887
NM_182914.3(SYNE2):c.19324G>A (p.Ala6442Thr)
NM_182914.3(SYNE2):c.19328T>C (p.Leu6443Pro) rs1555551908
NM_182914.3(SYNE2):c.19336G>A (p.Val6446Ile)
NM_182914.3(SYNE2):c.1933T>A (p.Ser645Thr) rs770407837
NM_182914.3(SYNE2):c.1933T>C (p.Ser645Pro)
NM_182914.3(SYNE2):c.19345C>A (p.Pro6449Thr)
NM_182914.3(SYNE2):c.19346C>G (p.Pro6449Arg)
NM_182914.3(SYNE2):c.1937C>G (p.Ser646Cys)
NM_182914.3(SYNE2):c.19391A>C (p.Lys6464Thr) rs1555552449
NM_182914.3(SYNE2):c.19400C>T (p.Ser6467Phe)
NM_182914.3(SYNE2):c.19402+10C>T rs759119344
NM_182914.3(SYNE2):c.19402+18C>T rs2140269081
NM_182914.3(SYNE2):c.19403-1G>C
NM_182914.3(SYNE2):c.19417G>A (p.Asp6473Asn)
NM_182914.3(SYNE2):c.19441G>A (p.Asp6481Asn) rs202052357
NM_182914.3(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
NM_182914.3(SYNE2):c.19465C>T (p.His6489Tyr)
NM_182914.3(SYNE2):c.19493A>T (p.Asn6498Ile)
NM_182914.3(SYNE2):c.19523C>G (p.Thr6508Ser) rs2098666518
NM_182914.3(SYNE2):c.19538C>G (p.Pro6513Arg)
NM_182914.3(SYNE2):c.19538C>T (p.Pro6513Leu)
NM_182914.3(SYNE2):c.19539del (p.Tyr6514fs) rs2140289822
NM_182914.3(SYNE2):c.19541A>G (p.Tyr6514Cys)
NM_182914.3(SYNE2):c.19543-8C>A rs746189092
NM_182914.3(SYNE2):c.19549CTA[1] (p.Leu6519del) rs886043261
NM_182914.3(SYNE2):c.19558C>G (p.Pro6520Ala) rs2098676992
NM_182914.3(SYNE2):c.19561C>G (p.Pro6521Ala)
NM_182914.3(SYNE2):c.19568C>T (p.Thr6523Met)
NM_182914.3(SYNE2):c.19570G>C (p.Asp6524His)
NM_182914.3(SYNE2):c.19628G>T (p.Gly6543Val)
NM_182914.3(SYNE2):c.19630C>G (p.Leu6544Val)
NM_182914.3(SYNE2):c.19646A>G (p.Glu6549Gly) rs1567679516
NM_182914.3(SYNE2):c.19658G>A (p.Gly6553Asp) rs1005373982
NM_182914.3(SYNE2):c.19691A>G (p.Gln6564Arg) rs1567682749
NM_182914.3(SYNE2):c.19697T>C (p.Leu6566Pro)
NM_182914.3(SYNE2):c.19703A>G (p.Asn6568Ser)
NM_182914.3(SYNE2):c.19723_19724del (p.Asn6575fs) rs2140352990
NM_182914.3(SYNE2):c.19738A>G (p.Asn6580Asp)
NM_182914.3(SYNE2):c.19741T>G (p.Ser6581Ala) rs2140353373
NM_182914.3(SYNE2):c.19745A>G (p.Asp6582Gly)
NM_182914.3(SYNE2):c.19752C>G (p.Ser6584Arg)
NM_182914.3(SYNE2):c.19753G>A (p.Ala6585Thr)
NM_182914.3(SYNE2):c.19763C>T (p.Thr6588Ile) rs752030533
NM_182914.3(SYNE2):c.19780G>A (p.Glu6594Lys)
NM_182914.3(SYNE2):c.19783G>A (p.Ala6595Thr)
NM_182914.3(SYNE2):c.19802A>G (p.Lys6601Arg)
NM_182914.3(SYNE2):c.19806_19813del (p.Met6602fs) rs2098683425
NM_182914.3(SYNE2):c.1984G>C (p.Val662Leu)
NM_182914.3(SYNE2):c.19850A>G (p.Lys6617Arg)
NM_182914.3(SYNE2):c.19861G>A (p.Glu6621Lys)
NM_182914.3(SYNE2):c.19864A>G (p.Ile6622Val)
NM_182914.3(SYNE2):c.19903T>C (p.Ser6635Pro)
NM_182914.3(SYNE2):c.19920C>A (p.Ser6640Arg)
NM_182914.3(SYNE2):c.19933C>G (p.Gln6645Glu)
NM_182914.3(SYNE2):c.19946C>T (p.Pro6649Leu)
NM_182914.3(SYNE2):c.19967G>C (p.Ser6656Thr)
NM_182914.3(SYNE2):c.1996C>A (p.Gln666Lys) rs1488229138
NM_182914.3(SYNE2):c.19973T>A (p.Leu6658His) rs1555558485
NM_182914.3(SYNE2):c.19976G>A (p.Arg6659His)
NM_182914.3(SYNE2):c.19985G>T (p.Ser6662Ile) rs2098689595
NM_182914.3(SYNE2):c.19986C>G (p.Ser6662Arg)
NM_182914.3(SYNE2):c.20021G>A (p.Ser6674Asn)
NM_182914.3(SYNE2):c.20029G>A (p.Gly6677Arg) rs767622970
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala) rs140676416
NM_182914.3(SYNE2):c.20038C>G (p.Arg6680Gly) rs753598628
NM_182914.3(SYNE2):c.20038C>T (p.Arg6680Ter) rs753598628
NM_182914.3(SYNE2):c.20041C>T (p.Gln6681Ter) rs2098689813
NM_182914.3(SYNE2):c.20068C>T (p.His6690Tyr) rs908836747
NM_182914.3(SYNE2):c.2009A>G (p.Asn670Ser)
NM_182914.3(SYNE2):c.20102C>T (p.Ala6701Val) rs769553105
NM_182914.3(SYNE2):c.20144C>T (p.Pro6715Leu)
NM_182914.3(SYNE2):c.20150C>G (p.Ala6717Gly)
NM_182914.3(SYNE2):c.20172_20173insAAGCCAAATGACTTGCAGGAATGGAGAGCCACAGTCCACAGAACTGAGGACATAGGTGCTCTCGATATCC (p.Cys6725fs) rs1567693129
NM_182914.3(SYNE2):c.20257C>T (p.Leu6753Phe) rs2140451342
NM_182914.3(SYNE2):c.20296GAA[1] (p.Glu6767del) rs2098703250
NM_182914.3(SYNE2):c.2031dup (p.Gln678fs) rs750736888
NM_182914.3(SYNE2):c.20338C>G (p.Arg6780Gly) rs138437515
NM_182914.3(SYNE2):c.20338C>T (p.Arg6780Trp) rs138437515
NM_182914.3(SYNE2):c.20339G>T (p.Arg6780Leu)
NM_182914.3(SYNE2):c.20366C>A (p.Ala6789Asp) rs765411016
NM_182914.3(SYNE2):c.20382+1G>A rs113757671
NM_182914.3(SYNE2):c.20383-15G>T rs886050600
NM_182914.3(SYNE2):c.20387C>T (p.Pro6796Leu)
NM_182914.3(SYNE2):c.20395C>T (p.Pro6799Ser)
NM_182914.3(SYNE2):c.20449G>A (p.Val6817Met) rs202235545
NM_182914.3(SYNE2):c.20449G>T (p.Val6817Leu) rs202235545
NM_182914.3(SYNE2):c.2044A>C (p.Thr682Pro) rs1594659210
NM_182914.3(SYNE2):c.20461C>T (p.Arg6821Ter) rs1423117372
NM_182914.3(SYNE2):c.20470-1G>T
NM_182914.3(SYNE2):c.20494G>A (p.Gly6832Ser) rs368740030
NM_182914.3(SYNE2):c.20497GAG[2] (p.Glu6835del) rs780096549
NM_182914.3(SYNE2):c.20499_20516+4dup rs2098712389
NM_182914.3(SYNE2):c.20500G>A (p.Glu6834Lys)
NM_182914.3(SYNE2):c.20516+5C>T
NM_182914.3(SYNE2):c.20521C>T (p.Pro6841Ser) rs1356063795
NM_182914.3(SYNE2):c.20524G>A (p.Gly6842Ser) rs201538331
NM_182914.3(SYNE2):c.20533C>T (p.Arg6845Trp)
NM_182914.3(SYNE2):c.20534G>A (p.Arg6845Gln)
NM_182914.3(SYNE2):c.2054A>G (p.Asn685Ser)
NM_182914.3(SYNE2):c.20551C>T (p.Leu6851Phe) rs564532190
NM_182914.3(SYNE2):c.20562G>T (p.Val6854=) rs755188684
NM_182914.3(SYNE2):c.20566C>T (p.Arg6856Trp)
NM_182914.3(SYNE2):c.20567G>T (p.Arg6856Leu) rs756327978
NM_182914.3(SYNE2):c.20570C>T (p.Ala6857Val)
NM_182914.3(SYNE2):c.20578C>A (p.Pro6860Thr) rs1284163131
NM_182914.3(SYNE2):c.20595_20612del (p.Leu6866_Leu6871del) rs750984033
NM_182914.3(SYNE2):c.20608C>T (p.Leu6870Phe)
NM_182914.3(SYNE2):c.20632_20634delinsGAA (p.Ser6878Glu) rs1555564487
NM_182914.3(SYNE2):c.20635G>A (p.Glu6879Lys) rs371152824
NM_182914.3(SYNE2):c.20635G>C (p.Glu6879Gln)
NM_182914.3(SYNE2):c.20636A>T (p.Glu6879Val) rs757149542
NM_182914.3(SYNE2):c.20637AGA[1] (p.Glu6880del) rs781275793
NM_182914.3(SYNE2):c.20641G>C (p.Asp6881His) rs1345320685
NM_182914.3(SYNE2):c.20654C>G (p.Thr6885Ser) rs1596340525
NM_182914.3(SYNE2):c.20674C>T (p.Arg6892Trp) rs534020975
NM_182914.3(SYNE2):c.20675G>A (p.Arg6892Gln) rs774785412
NM_182914.3(SYNE2):c.20693T>G (p.Leu6898Arg) rs2098715170
NM_182914.3(SYNE2):c.20711C>T (p.Pro6904Leu)
NM_182914.3(SYNE2):c.20718dup (p.Thr6907fs)
NM_182914.3(SYNE2):c.20721A>G (p.Thr6907=) rs886050601
NM_182914.3(SYNE2):c.2082G>T (p.Glu694Asp) rs2096604651
NM_182914.3(SYNE2):c.2119G>C (p.Glu707Gln)
NM_182914.3(SYNE2):c.2125C>T (p.Pro709Ser) rs749973572
NM_182914.3(SYNE2):c.2151+1G>T
NM_182914.3(SYNE2):c.2156G>C (p.Gly719Ala) rs2096626654
NM_182914.3(SYNE2):c.2165A>G (p.His722Arg)
NM_182914.3(SYNE2):c.2198T>G (p.Leu733Arg)
NM_182914.3(SYNE2):c.2203G>A (p.Val735Met) rs994577244
NM_182914.3(SYNE2):c.2233C>G (p.Gln745Glu) rs2153479422
NM_182914.3(SYNE2):c.2279A>G (p.Asp760Gly) rs1594681467
NM_182914.3(SYNE2):c.2284G>A (p.Val762Met)
NM_182914.3(SYNE2):c.2291C>T (p.Thr764Ile) rs2153479469
NM_182914.3(SYNE2):c.2313+1G>A rs2096627723
NM_182914.3(SYNE2):c.2314-12T>G
NM_182914.3(SYNE2):c.2314-14A>G
NM_182914.3(SYNE2):c.2337G>A (p.Met779Ile)
NM_182914.3(SYNE2):c.2351T>G (p.Met784Arg)
NM_182914.3(SYNE2):c.2354C>T (p.Ala785Val) rs2153485003
NM_182914.3(SYNE2):c.2360G>C (p.Ser787Thr)
NM_182914.3(SYNE2):c.237+6A>T
NM_182914.3(SYNE2):c.2386C>G (p.Gln796Glu)
NM_182914.3(SYNE2):c.238C>T (p.Pro80Ser) rs1595771772
NM_182914.3(SYNE2):c.2426C>T (p.Thr809Ile)
NM_182914.3(SYNE2):c.2429C>G (p.Thr810Ser)
NM_182914.3(SYNE2):c.2431G>A (p.Gly811Arg)
NM_182914.3(SYNE2):c.2441C>T (p.Ala814Val)
NM_182914.3(SYNE2):c.2472+3C>A
NM_182914.3(SYNE2):c.2472+5C>G rs537534571
NM_182914.3(SYNE2):c.2472G>T (p.Gln824His) rs760909392
NM_182914.3(SYNE2):c.2489T>G (p.Leu830Arg) rs868572266
NM_182914.3(SYNE2):c.2492T>C (p.Ile831Thr)
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly) rs200503488
NM_182914.3(SYNE2):c.2498C>T (p.Ala833Val) rs200503488
NM_182914.3(SYNE2):c.2525C>A (p.Pro842Gln) rs1230958792
NM_182914.3(SYNE2):c.2563A>G (p.Lys855Glu)
NM_182914.3(SYNE2):c.256A>G (p.Asn86Asp)
NM_182914.3(SYNE2):c.2591C>T (p.Ala864Val)
NM_182914.3(SYNE2):c.2593del (p.Gln865fs) rs2153485914
NM_182914.3(SYNE2):c.2596C>A (p.Gln866Lys)
NM_182914.3(SYNE2):c.2644A>G (p.Lys882Glu)
NM_182914.3(SYNE2):c.2647-2A>G
NM_182914.3(SYNE2):c.2650G>A (p.Ala884Thr)
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852
NM_182914.3(SYNE2):c.2672A>G (p.Lys891Arg)
NM_182914.3(SYNE2):c.2722A>C (p.Thr908Pro)
NM_182914.3(SYNE2):c.2727G>T (p.Glu909Asp) rs2096689999
NM_182914.3(SYNE2):c.2738T>C (p.Met913Thr) rs770869083
NM_182914.3(SYNE2):c.2746G>A (p.Glu916Lys) rs2096690257
NM_182914.3(SYNE2):c.2779G>C (p.Glu927Gln)
NM_182914.3(SYNE2):c.2806T>C (p.Tyr936His)
NM_182914.3(SYNE2):c.2815C>A (p.Gln939Lys)
NM_182914.3(SYNE2):c.2831T>C (p.Ile944Thr)
NM_182914.3(SYNE2):c.2844G>C (p.Lys948Asn)
NM_182914.3(SYNE2):c.2857A>G (p.Ile953Val) rs2096703120
NM_182914.3(SYNE2):c.287A>G (p.His96Arg) rs2095922493
NM_182914.3(SYNE2):c.2899A>G (p.Ile967Val)
NM_182914.3(SYNE2):c.28G>C (p.Glu10Gln) rs781375790
NM_182914.3(SYNE2):c.2908G>A (p.Gly970Arg) rs767335788
NM_182914.3(SYNE2):c.290C>G (p.Ala97Gly)
NM_182914.3(SYNE2):c.2942C>T (p.Ala981Val) rs1466945953
NM_182914.3(SYNE2):c.2950T>G (p.Ser984Ala)
NM_182914.3(SYNE2):c.2972A>C (p.Gln991Pro)
NM_182914.3(SYNE2):c.3042A>T (p.Glu1014Asp) rs750783509
NM_182914.3(SYNE2):c.3076A>T (p.Ile1026Leu) rs1395621217
NM_182914.3(SYNE2):c.3113T>C (p.Met1038Thr) rs2096719569
NM_182914.3(SYNE2):c.3140C>T (p.Thr1047Met)
NM_182914.3(SYNE2):c.3152+5G>T
NM_182914.3(SYNE2):c.3152A>G (p.Glu1051Gly)
NM_182914.3(SYNE2):c.316-2A>G rs2153417734
NM_182914.3(SYNE2):c.3160A>T (p.Ile1054Phe)
NM_182914.3(SYNE2):c.3176A>G (p.Asn1059Ser)
NM_182914.3(SYNE2):c.3177T>G (p.Asn1059Lys) rs1594758891
NM_182914.3(SYNE2):c.3190C>T (p.Pro1064Ser)
NM_182914.3(SYNE2):c.3197_3207del (p.Ser1066fs)
NM_182914.3(SYNE2):c.3247A>G (p.Met1083Val) rs1335909602
NM_182914.3(SYNE2):c.3275C>T (p.Ala1092Val) rs1555421275
NM_182914.3(SYNE2):c.3287G>A (p.Arg1096Lys) rs2096728053
NM_182914.3(SYNE2):c.330_333del (p.Ile111fs)
NM_182914.3(SYNE2):c.3319G>T (p.Asp1107Tyr)
NM_182914.3(SYNE2):c.3334A>G (p.Ile1112Val)
NM_182914.3(SYNE2):c.3354-3C>T
NM_182914.3(SYNE2):c.3361A>G (p.Thr1121Ala)
NM_182914.3(SYNE2):c.3362C>A (p.Thr1121Lys) rs2153500223
NM_182914.3(SYNE2):c.3395A>T (p.Asn1132Ile) rs1175611635
NM_182914.3(SYNE2):c.3407G>T (p.Arg1136Met)
NM_182914.3(SYNE2):c.3416C>T (p.Ser1139Phe)
NM_182914.3(SYNE2):c.3425C>G (p.Ser1142Cys)
NM_182914.3(SYNE2):c.3445A>C (p.Ser1149Arg) rs2096734093
NM_182914.3(SYNE2):c.3452G>A (p.Cys1151Tyr) rs1555421819
NM_182914.3(SYNE2):c.3472G>C (p.Asp1158His) rs750773485
NM_182914.3(SYNE2):c.3486A>G (p.Ile1162Met)
NM_182914.3(SYNE2):c.3506G>T (p.Arg1169Leu) rs200437377
NM_182914.3(SYNE2):c.3541del (p.Glu1181fs) rs2096746644
NM_182914.3(SYNE2):c.3550G>C (p.Val1184Leu)
NM_182914.3(SYNE2):c.3577A>G (p.Ile1193Val)
NM_182914.3(SYNE2):c.358A>C (p.Asn120His) rs1595773305
NM_182914.3(SYNE2):c.359A>G (p.Asn120Ser)
NM_182914.3(SYNE2):c.3611G>A (p.Arg1204Lys)
NM_182914.3(SYNE2):c.361C>A (p.Pro121Thr)
NM_182914.3(SYNE2):c.3631A>G (p.Asn1211Asp) rs2096747451
NM_182914.3(SYNE2):c.3641T>C (p.Met1214Thr)
NM_182914.3(SYNE2):c.3643G>A (p.Glu1215Lys)
NM_182914.3(SYNE2):c.3688G>A (p.Ala1230Thr) rs1294862758
NM_182914.3(SYNE2):c.3715C>G (p.Leu1239Val) rs886050581
NM_182914.3(SYNE2):c.3730A>G (p.Met1244Val) rs886042631
NM_182914.3(SYNE2):c.3739C>A (p.Gln1247Lys) rs1594783691
NM_182914.3(SYNE2):c.3766C>T (p.Arg1256Cys)
NM_182914.3(SYNE2):c.3788A>C (p.Asn1263Thr) rs1021504217
NM_182914.3(SYNE2):c.3794A>G (p.Gln1265Arg) rs759543992
NM_182914.3(SYNE2):c.3797A>G (p.Asp1266Gly) rs752582359
NM_182914.3(SYNE2):c.3809A>G (p.Lys1270Arg)
NM_182914.3(SYNE2):c.3812A>G (p.Gln1271Arg) rs2096765172
NM_182914.3(SYNE2):c.3824G>A (p.Cys1275Tyr) rs1309435421
NM_182914.3(SYNE2):c.3853G>T (p.Val1285Leu)
NM_182914.3(SYNE2):c.3870C>G (p.His1290Gln)
NM_182914.3(SYNE2):c.3871C>G (p.Pro1291Ala)
NM_182914.3(SYNE2):c.3875T>C (p.Phe1292Ser) rs2096765769
NM_182914.3(SYNE2):c.3880C>A (p.Leu1294Ile)
NM_182914.3(SYNE2):c.3883C>A (p.His1295Asn) rs749089209
NM_182914.3(SYNE2):c.3885C>G (p.His1295Gln) rs570341792
NM_182914.3(SYNE2):c.3903A>G (p.Ile1301Met)
NM_182914.3(SYNE2):c.3916A>G (p.Thr1306Ala) rs2096766111
NM_182914.3(SYNE2):c.3950_3961del (p.Arg1317_Asp1320del)
NM_182914.3(SYNE2):c.3953G>C (p.Ser1318Thr) rs2153505738
NM_182914.3(SYNE2):c.39G>T (p.Gln13His) rs1187262903
NM_182914.3(SYNE2):c.4027A>G (p.Thr1343Ala) rs2096767067
NM_182914.3(SYNE2):c.4070C>A (p.Thr1357Lys) rs769845003
NM_182914.3(SYNE2):c.407A>T (p.His136Leu)
NM_182914.3(SYNE2):c.4092G>C (p.Glu1364Asp)
NM_182914.3(SYNE2):c.4102C>G (p.His1368Asp) rs1166480761
NM_182914.3(SYNE2):c.4114G>T (p.Asp1372Tyr)
NM_182914.3(SYNE2):c.4136A>G (p.Lys1379Arg) rs2153505913
NM_182914.3(SYNE2):c.4178G>T (p.Arg1393Leu)
NM_182914.3(SYNE2):c.4190C>A (p.Thr1397Asn) rs760136466
NM_182914.3(SYNE2):c.4196G>A (p.Cys1399Tyr)
NM_182914.3(SYNE2):c.419T>G (p.Leu140Arg)
NM_182914.3(SYNE2):c.4219dup (p.Ser1407fs) rs1567023881
NM_182914.3(SYNE2):c.4228T>G (p.Leu1410Val)
NM_182914.3(SYNE2):c.4235A>G (p.Glu1412Gly) rs1421966833
NM_182914.3(SYNE2):c.4242T>A (p.His1414Gln)
NM_182914.3(SYNE2):c.4249G>A (p.Gly1417Arg)
NM_182914.3(SYNE2):c.424C>G (p.Gln142Glu) rs2096122537
NM_182914.3(SYNE2):c.4278C>G (p.Asn1426Lys)
NM_182914.3(SYNE2):c.4351A>G (p.Ser1451Gly) rs535438406
NM_182914.3(SYNE2):c.4367A>G (p.Lys1456Arg) rs373113826
NM_182914.3(SYNE2):c.4370A>G (p.Asp1457Gly)
NM_182914.3(SYNE2):c.4375A>C (p.Thr1459Pro) rs1482814444
NM_182914.3(SYNE2):c.438C>G (p.Cys146Trp) rs765943821
NM_182914.3(SYNE2):c.4396C>T (p.Arg1466Trp)
NM_182914.3(SYNE2):c.4398-11T>A rs2096801796
NM_182914.3(SYNE2):c.4406C>G (p.Ser1469Ter) rs1191099437
NM_182914.3(SYNE2):c.440A>G (p.Asn147Ser)
NM_182914.3(SYNE2):c.4418T>G (p.Leu1473Arg) rs772693998
NM_182914.3(SYNE2):c.4432G>C (p.Asp1478His) rs1423801252
NM_182914.3(SYNE2):c.4457A>G (p.His1486Arg)
NM_182914.3(SYNE2):c.446A>G (p.Asn149Ser)
NM_182914.3(SYNE2):c.4471G>A (p.Ala1491Thr)
NM_182914.3(SYNE2):c.4474A>G (p.Asn1492Asp) rs759496296
NM_182914.3(SYNE2):c.4576T>C (p.Cys1526Arg) rs2153513257
NM_182914.3(SYNE2):c.4577+6del
NM_182914.3(SYNE2):c.4585C>T (p.Gln1529Ter) rs2096831020
NM_182914.3(SYNE2):c.4597G>T (p.Val1533Phe)
NM_182914.3(SYNE2):c.4603G>C (p.Glu1535Gln)
NM_182914.3(SYNE2):c.4607T>C (p.Leu1536Pro)
NM_182914.3(SYNE2):c.4640T>C (p.Leu1547Ser) rs1594836938
NM_182914.3(SYNE2):c.4646C>G (p.Thr1549Ser) rs1223928872
NM_182914.3(SYNE2):c.4651A>G (p.Ile1551Val)
NM_182914.3(SYNE2):c.4672A>G (p.Ile1558Val) rs781515176
NM_182914.3(SYNE2):c.4697G>A (p.Gly1566Glu) rs906789317
NM_182914.3(SYNE2):c.4699A>G (p.Lys1567Glu)
NM_182914.3(SYNE2):c.4720A>G (p.Ile1574Val)
NM_182914.3(SYNE2):c.4726G>A (p.Glu1576Lys)
NM_182914.3(SYNE2):c.4728+9A>G rs2096831894
NM_182914.3(SYNE2):c.475G>T (p.Val159Phe) rs1323596481
NM_182914.3(SYNE2):c.4768G>T (p.Val1590Phe) rs1018808319
NM_182914.3(SYNE2):c.4769T>C (p.Val1590Ala) rs1345072464
NM_182914.3(SYNE2):c.476T>C (p.Val159Ala)
NM_182914.3(SYNE2):c.4787A>C (p.Gln1596Pro) rs2096893453
NM_182914.3(SYNE2):c.478G>A (p.Asp160Asn) rs1566887934
NM_182914.3(SYNE2):c.4799A>C (p.Asn1600Thr) rs2096893538
NM_182914.3(SYNE2):c.4810T>C (p.Tyr1604His)
NM_182914.3(SYNE2):c.4819A>G (p.Lys1607Glu)
NM_182914.3(SYNE2):c.4826A>C (p.Lys1609Thr)
NM_182914.3(SYNE2):c.4844C>A (p.Pro1615His)
NM_182914.3(SYNE2):c.4861A>C (p.Asn1621His) rs746284520
NM_182914.3(SYNE2):c.4864ATT[1] (p.Ile1623del) rs1430734342
NM_182914.3(SYNE2):c.4905A>C (p.Glu1635Asp)
NM_182914.3(SYNE2):c.4909T>C (p.Tyr1637His)
NM_182914.3(SYNE2):c.4924G>A (p.Gly1642Ser) rs1555431607
NM_182914.3(SYNE2):c.4927C>T (p.Arg1643Ter)
NM_182914.3(SYNE2):c.4933C>G (p.Leu1645Val) rs1555431632
NM_182914.3(SYNE2):c.4936G>C (p.Ala1646Pro)
NM_182914.3(SYNE2):c.4959C>A (p.Asn1653Lys) rs2096903791
NM_182914.3(SYNE2):c.4964A>C (p.Lys1655Thr) rs1594893225
NM_182914.3(SYNE2):c.4967A>C (p.Asn1656Thr)
NM_182914.3(SYNE2):c.5023A>G (p.Thr1675Ala)
NM_182914.3(SYNE2):c.5060A>G (p.Gln1687Arg) rs1448142743
NM_182914.3(SYNE2):c.5066A>G (p.His1689Arg)
NM_182914.3(SYNE2):c.5068G>A (p.Glu1690Lys) rs2096924669
NM_182914.3(SYNE2):c.5069A>G (p.Glu1690Gly)
NM_182914.3(SYNE2):c.5107A>G (p.Ile1703Val)
NM_182914.3(SYNE2):c.5131G>A (p.Glu1711Lys)
NM_182914.3(SYNE2):c.5132A>G (p.Glu1711Gly)
NM_182914.3(SYNE2):c.5151+17_5151+18insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTTTATTTA
NM_182914.3(SYNE2):c.5151+1G>T rs2153531508
NM_182914.3(SYNE2):c.515G>T (p.Cys172Phe) rs2096123588
NM_182914.3(SYNE2):c.5162C>T (p.Ser1721Phe)
NM_182914.3(SYNE2):c.5222A>G (p.His1741Arg) rs1221262801
NM_182914.3(SYNE2):c.5234G>A (p.Gly1745Asp)
NM_182914.3(SYNE2):c.5240C>T (p.Thr1747Ile)
NM_182914.3(SYNE2):c.5276C>G (p.Thr1759Ser)
NM_182914.3(SYNE2):c.5297C>T (p.Ser1766Phe)
NM_182914.3(SYNE2):c.5312T>C (p.Leu1771Pro)
NM_182914.3(SYNE2):c.5352+6A>G rs572125775
NM_182914.3(SYNE2):c.5359C>A (p.Gln1787Lys) rs2096938300
NM_182914.3(SYNE2):c.5422A>G (p.Thr1808Ala)
NM_182914.3(SYNE2):c.544del (p.Ser182fs) rs2153430619
NM_182914.3(SYNE2):c.5500G>C (p.Asp1834His) rs760548610
NM_182914.3(SYNE2):c.5503C>A (p.His1835Asn)
NM_182914.3(SYNE2):c.550A>G (p.Arg184Gly)
NM_182914.3(SYNE2):c.5545G>T (p.Asp1849Tyr)
NM_182914.3(SYNE2):c.55G>A (p.Asp19Asn)
NM_182914.3(SYNE2):c.5606dup (p.Ser1870fs)
NM_182914.3(SYNE2):c.5646G>T (p.Leu1882Phe) rs747913558
NM_182914.3(SYNE2):c.5650C>T (p.Leu1884Phe)
NM_182914.3(SYNE2):c.566T>C (p.Leu189Ser)
NM_182914.3(SYNE2):c.5688C>A (p.Ser1896Arg)
NM_182914.3(SYNE2):c.5696A>G (p.Lys1899Arg) rs886050582
NM_182914.3(SYNE2):c.5726A>G (p.His1909Arg) rs750862490
NM_182914.3(SYNE2):c.5728G>A (p.Val1910Met) rs2096960883
NM_182914.3(SYNE2):c.5729T>C (p.Val1910Ala) rs758536054
NM_182914.3(SYNE2):c.5737C>T (p.Leu1913Phe) rs780436538
NM_182914.3(SYNE2):c.5746T>G (p.Trp1916Gly)
NM_182914.3(SYNE2):c.5752G>A (p.Val1918Met) rs199898588
NM_182914.3(SYNE2):c.5767G>A (p.Glu1923Lys)
NM_182914.3(SYNE2):c.5768A>T (p.Glu1923Val)
NM_182914.3(SYNE2):c.5776A>G (p.Lys1926Glu)
NM_182914.3(SYNE2):c.5792G>A (p.Cys1931Tyr) rs2153537144
NM_182914.3(SYNE2):c.5796G>T (p.Gln1932His) rs1567083049
NM_182914.3(SYNE2):c.5864T>C (p.Leu1955Pro)
NM_182914.3(SYNE2):c.5894A>C (p.Lys1965Thr)
NM_182914.3(SYNE2):c.5895A>G (p.Lys1965=) rs2096966269
NM_182914.3(SYNE2):c.5896T>C (p.Trp1966Arg)
NM_182914.3(SYNE2):c.58G>A (p.Asp20Asn)
NM_182914.3(SYNE2):c.58G>T (p.Asp20Tyr) rs770930910
NM_182914.3(SYNE2):c.590+6T>C rs1011848200
NM_182914.3(SYNE2):c.5906T>G (p.Met1969Arg) rs4902264
NM_182914.3(SYNE2):c.590C>T (p.Thr197Ile)
NM_182914.3(SYNE2):c.5912A>G (p.Glu1971Gly)
NM_182914.3(SYNE2):c.5918G>C (p.Gly1973Ala)
NM_182914.3(SYNE2):c.6019GAA[3] (p.Glu2010del) rs908642792
NM_182914.3(SYNE2):c.6063A>G (p.Arg2021=) rs2096968604
NM_182914.3(SYNE2):c.6081A>T (p.Arg2027Ser)
NM_182914.3(SYNE2):c.6097G>A (p.Glu2033Lys)
NM_182914.3(SYNE2):c.6124G>A (p.Glu2042Lys)
NM_182914.3(SYNE2):c.6153T>G (p.His2051Gln)
NM_182914.3(SYNE2):c.6154G>C (p.Asp2052His)
NM_182914.3(SYNE2):c.6173A>G (p.Lys2058Arg)
NM_182914.3(SYNE2):c.6185A>G (p.Glu2062Gly)
NM_182914.3(SYNE2):c.6201G>C (p.Leu2067Phe) rs2096969652
NM_182914.3(SYNE2):c.6211G>A (p.Glu2071Lys) rs551783338
NM_182914.3(SYNE2):c.6247A>T (p.Ile2083Phe) rs200739844
NM_182914.3(SYNE2):c.6250A>C (p.Lys2084Gln)
NM_182914.3(SYNE2):c.6252+3A>G
NM_182914.3(SYNE2):c.6302T>C (p.Met2101Thr) rs1473588731
NM_182914.3(SYNE2):c.6307C>G (p.Gln2103Glu) rs2096981266
NM_182914.3(SYNE2):c.6314A>G (p.Glu2105Gly)
NM_182914.3(SYNE2):c.6324G>C (p.Glu2108Asp)
NM_182914.3(SYNE2):c.6325G>A (p.Ala2109Thr) rs1342257701
NM_182914.3(SYNE2):c.6328C>T (p.Pro2110Ser)
NM_182914.3(SYNE2):c.6383A>T (p.His2128Leu)
NM_182914.3(SYNE2):c.6384T>A (p.His2128Gln) rs752995209
NM_182914.3(SYNE2):c.6412G>A (p.Glu2138Lys) rs2153540879
NM_182914.3(SYNE2):c.644C>T (p.Ala215Val)
NM_182914.3(SYNE2):c.6466T>G (p.Leu2156Val) rs2096990417
NM_182914.3(SYNE2):c.6476T>C (p.Ile2159Thr)
NM_182914.3(SYNE2):c.6485A>G (p.Lys2162Arg) rs2096990635
NM_182914.3(SYNE2):c.652G>A (p.Ala218Thr)
NM_182914.3(SYNE2):c.6553T>C (p.Tyr2185His)
NM_182914.3(SYNE2):c.6557A>C (p.Lys2186Thr)
NM_182914.3(SYNE2):c.6569A>G (p.Lys2190Arg)
NM_182914.3(SYNE2):c.6579A>T (p.Gln2193His) rs373963217
NM_182914.3(SYNE2):c.6601G>A (p.Glu2201Lys)
NM_182914.3(SYNE2):c.6620A>G (p.Asn2207Ser) rs2153541057
NM_182914.3(SYNE2):c.6621C>G (p.Asn2207Lys)
NM_182914.3(SYNE2):c.6658G>A (p.Glu2220Lys)
NM_182914.3(SYNE2):c.6674A>C (p.Glu2225Ala)
NM_182914.3(SYNE2):c.6676A>G (p.Ile2226Val) rs2153541111
NM_182914.3(SYNE2):c.6708A>C (p.Gln2236His)
NM_182914.3(SYNE2):c.670C>T (p.Arg224Ter)
NM_182914.3(SYNE2):c.6714G>A (p.Gln2238=)
NM_182914.3(SYNE2):c.671G>A (p.Arg224Gln) rs764128650
NM_182914.3(SYNE2):c.6728A>C (p.Asn2243Thr)
NM_182914.3(SYNE2):c.6735C>A (p.Asp2245Glu)
NM_182914.3(SYNE2):c.6752A>T (p.His2251Leu) rs2153543846
NM_182914.3(SYNE2):c.6766G>A (p.Val2256Ile)
NM_182914.3(SYNE2):c.6817G>C (p.Val2273Leu) rs1274502678
NM_182914.3(SYNE2):c.6829G>C (p.Asp2277His)
NM_182914.3(SYNE2):c.6830A>T (p.Asp2277Val)
NM_182914.3(SYNE2):c.6836C>T (p.Pro2279Leu) rs2097019470
NM_182914.3(SYNE2):c.6879+5T>C
NM_182914.3(SYNE2):c.688A>G (p.Met230Val)
NM_182914.3(SYNE2):c.6907G>A (p.Asp2303Asn) rs2097030466
NM_182914.3(SYNE2):c.6908A>G (p.Asp2303Gly)
NM_182914.3(SYNE2):c.690G>C (p.Met230Ile) rs2096220312
NM_182914.3(SYNE2):c.697G>A (p.Val233Met) rs2153436709
NM_182914.3(SYNE2):c.6991G>T (p.Asp2331Tyr) rs2153545498
NM_182914.3(SYNE2):c.6992A>G (p.Asp2331Gly)
NM_182914.3(SYNE2):c.7112G>T (p.Gly2371Val)
NM_182914.3(SYNE2):c.7156G>A (p.Val2386Met)
NM_182914.3(SYNE2):c.7166C>T (p.Ser2389Phe)
NM_182914.3(SYNE2):c.718G>A (p.Asp240Asn) rs1226057811
NM_182914.3(SYNE2):c.7221+5G>C
NM_182914.3(SYNE2):c.7254A>C (p.Gln2418His) rs984046422
NM_182914.3(SYNE2):c.7256T>C (p.Leu2419Pro) rs2097198733
NM_182914.3(SYNE2):c.7268C>A (p.Ala2423Asp)
NM_182914.3(SYNE2):c.7318C>A (p.Gln2440Lys)
NM_182914.3(SYNE2):c.739A>G (p.Arg247Gly)
NM_182914.3(SYNE2):c.7417A>C (p.Lys2473Gln) rs2097210469
NM_182914.3(SYNE2):c.744T>G (p.Ile248Met)
NM_182914.3(SYNE2):c.7451C>T (p.Thr2484Ile)
NM_182914.3(SYNE2):c.7467G>T (p.Leu2489Phe)
NM_182914.3(SYNE2):c.7478A>G (p.Asn2493Ser)
NM_182914.3(SYNE2):c.7489T>C (p.Ser2497Pro) rs2153573752
NM_182914.3(SYNE2):c.7513C>T (p.Leu2505Phe) rs749522550
NM_182914.3(SYNE2):c.7522C>T (p.Leu2508Phe) rs1434034677
NM_182914.3(SYNE2):c.7526T>C (p.Ile2509Thr)
NM_182914.3(SYNE2):c.7536G>C (p.Lys2512Asn) rs2097211326
NM_182914.3(SYNE2):c.7579G>A (p.Glu2527Lys) rs1483967595
NM_182914.3(SYNE2):c.7601C>A (p.Ser2534Tyr) rs749911464
NM_182914.3(SYNE2):c.7617G>T (p.Leu2539Phe) rs200359168
NM_182914.3(SYNE2):c.7642G>A (p.Val2548Ile)
NM_182914.3(SYNE2):c.766C>T (p.Pro256Ser) rs1195315926
NM_182914.3(SYNE2):c.7703A>G (p.Glu2568Gly) rs1460075302
NM_182914.3(SYNE2):c.7718C>G (p.Ser2573Cys) rs2097227855
NM_182914.3(SYNE2):c.772T>G (p.Leu258Val) rs935787094
NM_182914.3(SYNE2):c.7748A>G (p.Asn2583Ser)
NM_182914.3(SYNE2):c.7760A>G (p.His2587Arg)
NM_182914.3(SYNE2):c.7768G>C (p.Asp2590His) rs1555452706
NM_182914.3(SYNE2):c.7811A>T (p.Glu2604Val)
NM_182914.3(SYNE2):c.7816G>T (p.Gly2606Cys) rs201069405
NM_182914.3(SYNE2):c.7821G>C (p.Trp2607Cys)
NM_182914.3(SYNE2):c.7858C>T (p.Gln2620Ter)
NM_182914.3(SYNE2):c.7875TGA[1] (p.Asp2626del)
NM_182914.3(SYNE2):c.7877A>G (p.Asp2626Gly) rs2097229314
NM_182914.3(SYNE2):c.7880A>G (p.Glu2627Gly) rs1440652896
NM_182914.3(SYNE2):c.7889C>A (p.Thr2630Asn) rs1595152259
NM_182914.3(SYNE2):c.7895T>C (p.Met2632Thr)
NM_182914.3(SYNE2):c.79+3A>T rs760448281
NM_182914.3(SYNE2):c.79+5T>A rs776230510
NM_182914.3(SYNE2):c.7931_7932insTCTACAGTTGCAACA (p.Gln2643_Gln2644insHisLeuGlnLeuGln) rs2097229779
NM_182914.3(SYNE2):c.7943A>G (p.His2648Arg)
NM_182914.3(SYNE2):c.7974A>C (p.Glu2658Asp) rs2097230167
NM_182914.3(SYNE2):c.7976G>C (p.Arg2659Pro) rs199561218
NM_182914.3(SYNE2):c.8000C>A (p.Ala2667Asp)
NM_182914.3(SYNE2):c.8000C>T (p.Ala2667Val)
NM_182914.3(SYNE2):c.8013C>G (p.Asp2671Glu) rs1324986561
NM_182914.3(SYNE2):c.8019G>C (p.Gln2673His) rs2097230524
NM_182914.3(SYNE2):c.8026A>G (p.Lys2676Glu) rs756185609
NM_182914.3(SYNE2):c.802G>A (p.Asp268Asn) rs1555400535
NM_182914.3(SYNE2):c.803A>T (p.Asp268Val) rs1566917767
NM_182914.3(SYNE2):c.8042T>C (p.Val2681Ala)
NM_182914.3(SYNE2):c.8067G>C (p.Gln2689His)
NM_182914.3(SYNE2):c.8069T>C (p.Met2690Thr) rs560226719
NM_182914.3(SYNE2):c.8080T>A (p.Trp2694Arg)
NM_182914.3(SYNE2):c.8097GAA[1] (p.Lys2700del)
NM_182914.3(SYNE2):c.8125T>A (p.Leu2709Met)
NM_182914.3(SYNE2):c.8167_8172del (p.Ala2723_Glu2724del)
NM_182914.3(SYNE2):c.8232G>T (p.Lys2744Asn) rs886050583
NM_182914.3(SYNE2):c.8257T>C (p.Ser2753Pro) rs1214897374
NM_182914.3(SYNE2):c.8260A>G (p.Ile2754Val)
NM_182914.3(SYNE2):c.8264C>G (p.Pro2755Arg)
NM_182914.3(SYNE2):c.8272C>T (p.Pro2758Ser) rs771389608
NM_182914.3(SYNE2):c.8282T>C (p.Ile2761Thr)
NM_182914.3(SYNE2):c.8308G>A (p.Val2770Met)
NM_182914.3(SYNE2):c.8309T>C (p.Val2770Ala)
NM_182914.3(SYNE2):c.833T>C (p.Val278Ala)
NM_182914.3(SYNE2):c.8345T>C (p.Val2782Ala) rs201852964
NM_182914.3(SYNE2):c.8351C>T (p.Ser2784Leu) rs765459823
NM_182914.3(SYNE2):c.8372A>G (p.Asp2791Gly)
NM_182914.3(SYNE2):c.8377G>T (p.Val2793Phe) rs747840683
NM_182914.3(SYNE2):c.8405G>A (p.Ser2802Asn)
NM_182914.3(SYNE2):c.8407G>A (p.Asp2803Asn)
NM_182914.3(SYNE2):c.8408A>G (p.Asp2803Gly)
NM_182914.3(SYNE2):c.8434C>T (p.Arg2812Trp)
NM_182914.3(SYNE2):c.8499G>T (p.Leu2833Phe) rs2153576700
NM_182914.3(SYNE2):c.8512A>G (p.Asn2838Asp) rs2153576715
NM_182914.3(SYNE2):c.8513A>G (p.Asn2838Ser)
NM_182914.3(SYNE2):c.8528T>A (p.Ile2843Lys)
NM_182914.3(SYNE2):c.8531G>A (p.Arg2844Lys)
NM_182914.3(SYNE2):c.8532_8535del (p.Arg2844fs) rs2153576735
NM_182914.3(SYNE2):c.8584G>C (p.Glu2862Gln)
NM_182914.3(SYNE2):c.8591C>T (p.Ala2864Val) rs2153576784
NM_182914.3(SYNE2):c.8621A>G (p.His2874Arg)
NM_182914.3(SYNE2):c.8626A>C (p.Thr2876Pro) rs1322044514
NM_182914.3(SYNE2):c.865C>T (p.Pro289Ser) rs1459614876
NM_182914.3(SYNE2):c.8698A>C (p.Asn2900His)
NM_182914.3(SYNE2):c.8698A>G (p.Asn2900Asp)
NM_182914.3(SYNE2):c.8726A>G (p.Glu2909Gly)
NM_182914.3(SYNE2):c.8756A>G (p.Asn2919Ser)
NM_182914.3(SYNE2):c.8764A>G (p.Ile2922Val)
NM_182914.3(SYNE2):c.8765T>C (p.Ile2922Thr) rs2097236290
NM_182914.3(SYNE2):c.8775C>T (p.Asn2925=) rs778905999
NM_182914.3(SYNE2):c.8798A>G (p.Asn2933Ser)
NM_182914.3(SYNE2):c.8819A>G (p.His2940Arg)
NM_182914.3(SYNE2):c.8825T>C (p.Ile2942Thr) rs2097236781
NM_182914.3(SYNE2):c.8834G>A (p.Cys2945Tyr)
NM_182914.3(SYNE2):c.886C>A (p.Gln296Lys)
NM_182914.3(SYNE2):c.888+13A>G rs2096315740
NM_182914.3(SYNE2):c.8884A>G (p.Ile2962Val) rs2153576994
NM_182914.3(SYNE2):c.8900T>C (p.Leu2967Pro)
NM_182914.3(SYNE2):c.8908A>G (p.Asn2970Asp)
NM_182914.3(SYNE2):c.8960G>A (p.Arg2987Lys)
NM_182914.3(SYNE2):c.896T>A (p.Val299Glu)
NM_182914.3(SYNE2):c.9004A>C (p.Lys3002Gln)
NM_182914.3(SYNE2):c.9034T>G (p.Trp3012Gly) rs373784533
NM_182914.3(SYNE2):c.9037G>A (p.Asp3013Asn)
NM_182914.3(SYNE2):c.9048A>C (p.Gln3016His)
NM_182914.3(SYNE2):c.9065C>T (p.Thr3022Ile)
NM_182914.3(SYNE2):c.9081del (p.Glu3028fs) rs1253969126
NM_182914.3(SYNE2):c.9085A>G (p.Lys3029Glu)
NM_182914.3(SYNE2):c.9144T>G (p.Tyr3048Ter) rs1331113396
NM_182914.3(SYNE2):c.9157A>C (p.Ser3053Arg) rs2153577267
NM_182914.3(SYNE2):c.9189G>C (p.Lys3063Asn)
NM_182914.3(SYNE2):c.9286T>C (p.Cys3096Arg) rs2153577355
NM_182914.3(SYNE2):c.9328A>G (p.Thr3110Ala)
NM_182914.3(SYNE2):c.9345C>G (p.Phe3115Leu) rs768731460
NM_182914.3(SYNE2):c.9396G>A (p.Lys3132=) rs566182360
NM_182914.3(SYNE2):c.942G>T (p.Gln314His) rs2096356090
NM_182914.3(SYNE2):c.9442G>A (p.Glu3148Lys)
NM_182914.3(SYNE2):c.9443A>T (p.Glu3148Val)
NM_182914.3(SYNE2):c.9466G>A (p.Asp3156Asn)
NM_182914.3(SYNE2):c.9478A>C (p.Thr3160Pro)
NM_182914.3(SYNE2):c.9508T>C (p.Ser3170Pro)
NM_182914.3(SYNE2):c.9509C>A (p.Ser3170Tyr)
NM_182914.3(SYNE2):c.9529C>T (p.Leu3177Phe) rs780632657
NM_182914.3(SYNE2):c.9554T>C (p.Ile3185Thr)
NM_182914.3(SYNE2):c.9558A>C (p.Gln3186His) rs776801026
NM_182914.3(SYNE2):c.9576T>G (p.Cys3192Trp)
NM_182914.3(SYNE2):c.9610T>G (p.Cys3204Gly) rs531451940
NM_182914.3(SYNE2):c.9634A>G (p.Ile3212Val)
NM_182914.3(SYNE2):c.9670A>T (p.Ser3224Cys) rs545062561
NM_182914.3(SYNE2):c.9683C>T (p.Thr3228Ile)
NM_182914.3(SYNE2):c.9711G>T (p.Gln3237His) rs1406827932
NM_182914.3(SYNE2):c.9739C>T (p.Arg3247Cys)
NM_182914.3(SYNE2):c.9777_9778del (p.Arg3260fs) rs2153580475
NM_182914.3(SYNE2):c.9812G>A (p.Ser3271Asn) rs756481940
NM_182914.3(SYNE2):c.9825C>T (p.Leu3275=)
NM_182914.3(SYNE2):c.9873A>G (p.Glu3291=) rs747745836
NM_182914.3(SYNE2):c.9893G>A (p.Arg3298Gln) rs770399154
NM_182914.3(SYNE2):c.9925C>T (p.His3309Tyr)
NM_182914.3(SYNE2):c.9925_9926inv (p.His3309Cys)
NM_182914.3(SYNE2):c.9929T>C (p.Ile3310Thr)
NM_182914.3(SYNE2):c.9952G>A (p.Gly3318Arg)
NM_182914.3(SYNE2):c.995T>G (p.Leu332Arg) rs2153454245
NM_182914.3(SYNE2):c.9962C>G (p.Ser3321Cys)
NM_182914.3(SYNE2):c.9967C>T (p.Pro3323Ser)
NM_182914.3(SYNE2):c.9994A>G (p.Thr3332Ala) rs2153580640
NM_182914.3(SYNE2):c.9999A>T (p.Leu3333Phe) rs2097267152

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