Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152140005C>ACA366080121SYNE1c.1937G>T (p.Arg646Leu)
c.25403G>T (p.Arg8468Leu)
c.25259G>T (p.Arg8420Leu)
c.805G>T
c.1138G>T
c.1047G>T
c.1175G>T (p.Arg392Leu)
c.24188G>T (p.Arg8063Leu)
n.2151G>T
c.4238G>T (p.Arg1413Leu)
n.9095G>T
c.3341G>T (p.Arg1114Leu)
n.8987G>T
n.2017G>T
n.4425G>T
n.2240G>T
c.1868G>T (p.Arg623Leu)
c.25508G>T (p.Arg8503Leu)
c.25496G>T (p.Arg8499Leu)
c.25487G>T (p.Arg8496Leu)
c.25457G>T (p.Arg8486Leu)
c.25493G>T (p.Arg8498Leu)
c.25439G>T (p.Arg8480Leu)
c.25436G>T (p.Arg8479Leu)
c.25424G>T (p.Arg8475Leu)
c.25367G>T (p.Arg8456Leu)
c.25355G>T (p.Arg8452Leu)
c.25352G>T (p.Arg8451Leu)
c.25349G>T (p.Arg8450Leu)
c.25505G>T (p.Arg8502Leu)
c.25343G>T (p.Arg8448Leu)
c.23783G>T (p.Arg7928Leu)
c.23276G>T (p.Arg7759Leu)
c.18743G>T (p.Arg6248Leu)
c.2009G>T (p.Arg670Leu)
c.25481G>T (p.Arg8494Leu)
c.25430G>T (p.Arg8477Leu)
c.25283G>T (p.Arg8428Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.152140005C=CA1673206213SYNE1c.1937G= (p.Arg646=)
c.25403G= (p.Arg8468=)
c.25259G= (p.Arg8420=)
c.805G=
c.1138G=
c.1047G=
c.1175G= (p.Arg392=)
c.24188G= (p.Arg8063=)
n.2151G=
c.4238G= (p.Arg1413=)
n.9095G=
c.3341G= (p.Arg1114=)
n.8987G=
n.2017G=
n.4425G=
n.2240G=
c.1868G= (p.Arg623=)
c.25508G= (p.Arg8503=)
c.25496G= (p.Arg8499=)
c.25487G= (p.Arg8496=)
c.25457G= (p.Arg8486=)
c.25493G= (p.Arg8498=)
c.25439G= (p.Arg8480=)
c.25436G= (p.Arg8479=)
c.25424G= (p.Arg8475=)
c.25367G= (p.Arg8456=)
c.25355G= (p.Arg8452=)
c.25352G= (p.Arg8451=)
c.25349G= (p.Arg8450=)
c.25505G= (p.Arg8502=)
c.25343G= (p.Arg8448=)
c.23783G= (p.Arg7928=)
c.23276G= (p.Arg7759=)
c.18743G= (p.Arg6248=)
c.2009G= (p.Arg670=)
c.25481G= (p.Arg8494=)
c.25430G= (p.Arg8477=)
c.25283G= (p.Arg8428=)
6g.152140005C>GCA366080122SYNE1c.1937G>C (p.Arg646Pro)
c.25403G>C (p.Arg8468Pro)
c.25259G>C (p.Arg8420Pro)
c.805G>C
c.1138G>C
c.1047G>C
c.1175G>C (p.Arg392Pro)
c.24188G>C (p.Arg8063Pro)
n.2151G>C
c.4238G>C (p.Arg1413Pro)
n.9095G>C
c.3341G>C (p.Arg1114Pro)
n.8987G>C
n.2017G>C
n.4425G>C
n.2240G>C
c.1868G>C (p.Arg623Pro)
c.25508G>C (p.Arg8503Pro)
c.25496G>C (p.Arg8499Pro)
c.25487G>C (p.Arg8496Pro)
c.25457G>C (p.Arg8486Pro)
c.25493G>C (p.Arg8498Pro)
c.25439G>C (p.Arg8480Pro)
c.25436G>C (p.Arg8479Pro)
c.25424G>C (p.Arg8475Pro)
c.25367G>C (p.Arg8456Pro)
c.25355G>C (p.Arg8452Pro)
c.25352G>C (p.Arg8451Pro)
c.25349G>C (p.Arg8450Pro)
c.25505G>C (p.Arg8502Pro)
c.25343G>C (p.Arg8448Pro)
c.23783G>C (p.Arg7928Pro)
c.23276G>C (p.Arg7759Pro)
c.18743G>C (p.Arg6248Pro)
c.2009G>C (p.Arg670Pro)
c.25481G>C (p.Arg8494Pro)
c.25430G>C (p.Arg8477Pro)
c.25283G>C (p.Arg8428Pro)
6g.152140005C>TCA4052852SYNE1c.1937G>A (p.Arg646His)
c.25403G>A (p.Arg8468His)
c.25259G>A (p.Arg8420His)
c.805G>A
c.1138G>A
c.1047G>A
c.1175G>A (p.Arg392His)
c.24188G>A (p.Arg8063His)
n.2151G>A
c.4238G>A (p.Arg1413His)
n.9095G>A
c.3341G>A (p.Arg1114His)
n.8987G>A
n.2017G>A
n.4425G>A
n.2240G>A
c.1868G>A (p.Arg623His)
c.25508G>A (p.Arg8503His)
c.25496G>A (p.Arg8499His)
c.25487G>A (p.Arg8496His)
c.25457G>A (p.Arg8486His)
c.25493G>A (p.Arg8498His)
c.25439G>A (p.Arg8480His)
c.25436G>A (p.Arg8479His)
c.25424G>A (p.Arg8475His)
c.25367G>A (p.Arg8456His)
c.25355G>A (p.Arg8452His)
c.25352G>A (p.Arg8451His)
c.25349G>A (p.Arg8450His)
c.25505G>A (p.Arg8502His)
c.25343G>A (p.Arg8448His)
c.23783G>A (p.Arg7928His)
c.23276G>A (p.Arg7759His)
c.18743G>A (p.Arg6248His)
c.2009G>A (p.Arg670His)
c.25481G>A (p.Arg8494His)
c.25430G>A (p.Arg8477His)
c.25283G>A (p.Arg8428His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140006G>ACA4052853SYNE1c.1936C>T (p.Arg646Cys)
c.25402C>T (p.Arg8468Cys)
c.25258C>T (p.Arg8420Cys)
c.804C>T
c.1137C>T
c.1046C>T
c.1174C>T (p.Arg392Cys)
c.24187C>T (p.Arg8063Cys)
n.2150C>T
c.4237C>T (p.Arg1413Cys)
n.9094C>T
c.3340C>T (p.Arg1114Cys)
n.8986C>T
n.2016C>T
n.4424C>T
n.2239C>T
c.1867C>T (p.Arg623Cys)
c.25507C>T (p.Arg8503Cys)
c.25495C>T (p.Arg8499Cys)
c.25486C>T (p.Arg8496Cys)
c.25456C>T (p.Arg8486Cys)
c.25492C>T (p.Arg8498Cys)
c.25438C>T (p.Arg8480Cys)
c.25435C>T (p.Arg8479Cys)
c.25423C>T (p.Arg8475Cys)
c.25366C>T (p.Arg8456Cys)
c.25354C>T (p.Arg8452Cys)
c.25351C>T (p.Arg8451Cys)
c.25348C>T (p.Arg8450Cys)
c.25504C>T (p.Arg8502Cys)
c.25342C>T (p.Arg8448Cys)
c.23782C>T (p.Arg7928Cys)
c.23275C>T (p.Arg7759Cys)
c.18742C>T (p.Arg6248Cys)
c.2008C>T (p.Arg670Cys)
c.25480C>T (p.Arg8494Cys)
c.25429C>T (p.Arg8477Cys)
c.25282C>T (p.Arg8428Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140006G>CCA366080125SYNE1c.1936C>G (p.Arg646Gly)
c.25402C>G (p.Arg8468Gly)
c.25258C>G (p.Arg8420Gly)
c.804C>G
c.1137C>G
c.1046C>G
c.1174C>G (p.Arg392Gly)
c.24187C>G (p.Arg8063Gly)
n.2150C>G
c.4237C>G (p.Arg1413Gly)
n.9094C>G
c.3340C>G (p.Arg1114Gly)
n.8986C>G
n.2016C>G
n.4424C>G
n.2239C>G
c.1867C>G (p.Arg623Gly)
c.25507C>G (p.Arg8503Gly)
c.25495C>G (p.Arg8499Gly)
c.25486C>G (p.Arg8496Gly)
c.25456C>G (p.Arg8486Gly)
c.25492C>G (p.Arg8498Gly)
c.25438C>G (p.Arg8480Gly)
c.25435C>G (p.Arg8479Gly)
c.25423C>G (p.Arg8475Gly)
c.25366C>G (p.Arg8456Gly)
c.25354C>G (p.Arg8452Gly)
c.25351C>G (p.Arg8451Gly)
c.25348C>G (p.Arg8450Gly)
c.25504C>G (p.Arg8502Gly)
c.25342C>G (p.Arg8448Gly)
c.23782C>G (p.Arg7928Gly)
c.23275C>G (p.Arg7759Gly)
c.18742C>G (p.Arg6248Gly)
c.2008C>G (p.Arg670Gly)
c.25480C>G (p.Arg8494Gly)
c.25429C>G (p.Arg8477Gly)
c.25282C>G (p.Arg8428Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140006G=CA1673206218SYNE1c.1936C= (p.Arg646=)
c.25402C= (p.Arg8468=)
c.25258C= (p.Arg8420=)
c.804C=
c.1137C=
c.1046C=
c.1174C= (p.Arg392=)
c.24187C= (p.Arg8063=)
n.2150C=
c.4237C= (p.Arg1413=)
n.9094C=
c.3340C= (p.Arg1114=)
n.8986C=
n.2016C=
n.4424C=
n.2239C=
c.1867C= (p.Arg623=)
c.25507C= (p.Arg8503=)
c.25495C= (p.Arg8499=)
c.25486C= (p.Arg8496=)
c.25456C= (p.Arg8486=)
c.25492C= (p.Arg8498=)
c.25438C= (p.Arg8480=)
c.25435C= (p.Arg8479=)
c.25423C= (p.Arg8475=)
c.25366C= (p.Arg8456=)
c.25354C= (p.Arg8452=)
c.25351C= (p.Arg8451=)
c.25348C= (p.Arg8450=)
c.25504C= (p.Arg8502=)
c.25342C= (p.Arg8448=)
c.23782C= (p.Arg7928=)
c.23275C= (p.Arg7759=)
c.18742C= (p.Arg6248=)
c.2008C= (p.Arg670=)
c.25480C= (p.Arg8494=)
c.25429C= (p.Arg8477=)
c.25282C= (p.Arg8428=)
6g.152140006G>TCA366080127SYNE1c.1936C>A (p.Arg646Ser)
c.25402C>A (p.Arg8468Ser)
c.25258C>A (p.Arg8420Ser)
c.804C>A
c.1137C>A
c.1046C>A
c.1174C>A (p.Arg392Ser)
c.24187C>A (p.Arg8063Ser)
n.2150C>A
c.4237C>A (p.Arg1413Ser)
n.9094C>A
c.3340C>A (p.Arg1114Ser)
n.8986C>A
n.2016C>A
n.4424C>A
n.2239C>A
c.1867C>A (p.Arg623Ser)
c.25507C>A (p.Arg8503Ser)
c.25495C>A (p.Arg8499Ser)
c.25486C>A (p.Arg8496Ser)
c.25456C>A (p.Arg8486Ser)
c.25492C>A (p.Arg8498Ser)
c.25438C>A (p.Arg8480Ser)
c.25435C>A (p.Arg8479Ser)
c.25423C>A (p.Arg8475Ser)
c.25366C>A (p.Arg8456Ser)
c.25354C>A (p.Arg8452Ser)
c.25351C>A (p.Arg8451Ser)
c.25348C>A (p.Arg8450Ser)
c.25504C>A (p.Arg8502Ser)
c.25342C>A (p.Arg8448Ser)
c.23782C>A (p.Arg7928Ser)
c.23275C>A (p.Arg7759Ser)
c.18742C>A (p.Arg6248Ser)
c.2008C>A (p.Arg670Ser)
c.25480C>A (p.Arg8494Ser)
c.25429C>A (p.Arg8477Ser)
c.25282C>A (p.Arg8428Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140007C>ACA366080129SYNE1c.1935G>T (p.Gln645His)
c.25401G>T (p.Gln8467His)
c.25257G>T (p.Gln8419His)
c.803G>T
c.1136G>T
c.1045G>T
c.1173G>T (p.Gln391His)
c.24186G>T (p.Gln8062His)
n.2149G>T
c.4236G>T (p.Gln1412His)
n.9093G>T
c.3339G>T (p.Gln1113His)
n.8985G>T
n.2015G>T
n.4423G>T
n.2238G>T
c.1866G>T (p.Gln622His)
c.25506G>T (p.Gln8502His)
c.25494G>T (p.Gln8498His)
c.25485G>T (p.Gln8495His)
c.25455G>T (p.Gln8485His)
c.25491G>T (p.Gln8497His)
c.25437G>T (p.Gln8479His)
c.25434G>T (p.Gln8478His)
c.25422G>T (p.Gln8474His)
c.25365G>T (p.Gln8455His)
c.25353G>T (p.Gln8451His)
c.25350G>T (p.Gln8450His)
c.25347G>T (p.Gln8449His)
c.25503G>T (p.Gln8501His)
c.25341G>T (p.Gln8447His)
c.23781G>T (p.Gln7927His)
c.23274G>T (p.Gln7758His)
c.18741G>T (p.Gln6247His)
c.2007G>T (p.Gln669His)
c.25479G>T (p.Gln8493His)
c.25428G>T (p.Gln8476His)
c.25281G>T (p.Gln8427His)
6g.152140007C=CA1673206227SYNE1c.1935G= (p.Gln645=)
c.25401G= (p.Gln8467=)
c.25257G= (p.Gln8419=)
c.803G=
c.1136G=
c.1045G=
c.1173G= (p.Gln391=)
c.24186G= (p.Gln8062=)
n.2149G=
c.4236G= (p.Gln1412=)
n.9093G=
c.3339G= (p.Gln1113=)
n.8985G=
n.2015G=
n.4423G=
n.2238G=
c.1866G= (p.Gln622=)
c.25506G= (p.Gln8502=)
c.25494G= (p.Gln8498=)
c.25485G= (p.Gln8495=)
c.25455G= (p.Gln8485=)
c.25491G= (p.Gln8497=)
c.25437G= (p.Gln8479=)
c.25434G= (p.Gln8478=)
c.25422G= (p.Gln8474=)
c.25365G= (p.Gln8455=)
c.25353G= (p.Gln8451=)
c.25350G= (p.Gln8450=)
c.25347G= (p.Gln8449=)
c.25503G= (p.Gln8501=)
c.25341G= (p.Gln8447=)
c.23781G= (p.Gln7927=)
c.23274G= (p.Gln7758=)
c.18741G= (p.Gln6247=)
c.2007G= (p.Gln669=)
c.25479G= (p.Gln8493=)
c.25428G= (p.Gln8476=)
c.25281G= (p.Gln8427=)
6g.152140007C>GCA366080131SYNE1c.1935G>C (p.Gln645His)
c.25401G>C (p.Gln8467His)
c.25257G>C (p.Gln8419His)
c.803G>C
c.1136G>C
c.1045G>C
c.1173G>C (p.Gln391His)
c.24186G>C (p.Gln8062His)
n.2149G>C
c.4236G>C (p.Gln1412His)
n.9093G>C
c.3339G>C (p.Gln1113His)
n.8985G>C
n.2015G>C
n.4423G>C
n.2238G>C
c.1866G>C (p.Gln622His)
c.25506G>C (p.Gln8502His)
c.25494G>C (p.Gln8498His)
c.25485G>C (p.Gln8495His)
c.25455G>C (p.Gln8485His)
c.25491G>C (p.Gln8497His)
c.25437G>C (p.Gln8479His)
c.25434G>C (p.Gln8478His)
c.25422G>C (p.Gln8474His)
c.25365G>C (p.Gln8455His)
c.25353G>C (p.Gln8451His)
c.25350G>C (p.Gln8450His)
c.25347G>C (p.Gln8449His)
c.25503G>C (p.Gln8501His)
c.25341G>C (p.Gln8447His)
c.23781G>C (p.Gln7927His)
c.23274G>C (p.Gln7758His)
c.18741G>C (p.Gln6247His)
c.2007G>C (p.Gln669His)
c.25479G>C (p.Gln8493His)
c.25428G>C (p.Gln8476His)
c.25281G>C (p.Gln8427His)
6g.152140007C>TCA452969836SYNE1c.1935G>A (p.Gln645=)
c.25401G>A (p.Gln8467=)
c.25257G>A (p.Gln8419=)
c.803G>A
c.1136G>A
c.1045G>A
c.1173G>A (p.Gln391=)
c.24186G>A (p.Gln8062=)
n.2149G>A
c.4236G>A (p.Gln1412=)
n.9093G>A
c.3339G>A (p.Gln1113=)
n.8985G>A
n.2015G>A
n.4423G>A
n.2238G>A
c.1866G>A (p.Gln622=)
c.25506G>A (p.Gln8502=)
c.25494G>A (p.Gln8498=)
c.25485G>A (p.Gln8495=)
c.25455G>A (p.Gln8485=)
c.25491G>A (p.Gln8497=)
c.25437G>A (p.Gln8479=)
c.25434G>A (p.Gln8478=)
c.25422G>A (p.Gln8474=)
c.25365G>A (p.Gln8455=)
c.25353G>A (p.Gln8451=)
c.25350G>A (p.Gln8450=)
c.25347G>A (p.Gln8449=)
c.25503G>A (p.Gln8501=)
c.25341G>A (p.Gln8447=)
c.23781G>A (p.Gln7927=)
c.23274G>A (p.Gln7758=)
c.18741G>A (p.Gln6247=)
c.2007G>A (p.Gln669=)
c.25479G>A (p.Gln8493=)
c.25428G>A (p.Gln8476=)
c.25281G>A (p.Gln8427=)
 ClinVar dbSNP gnomAD v4
6g.152140008T>ACA366080133SYNE1c.1934A>T (p.Gln645Leu)
c.25400A>T (p.Gln8467Leu)
c.25256A>T (p.Gln8419Leu)
c.802A>T
c.1135A>T
c.1044A>T
c.1172A>T (p.Gln391Leu)
c.24185A>T (p.Gln8062Leu)
n.2148A>T
c.4235A>T (p.Gln1412Leu)
n.9092A>T
c.3338A>T (p.Gln1113Leu)
n.8984A>T
n.2014A>T
n.4422A>T
n.2237A>T
c.1865A>T (p.Gln622Leu)
c.25505A>T (p.Gln8502Leu)
c.25493A>T (p.Gln8498Leu)
c.25484A>T (p.Gln8495Leu)
c.25454A>T (p.Gln8485Leu)
c.25490A>T (p.Gln8497Leu)
c.25436A>T (p.Gln8479Leu)
c.25433A>T (p.Gln8478Leu)
c.25421A>T (p.Gln8474Leu)
c.25364A>T (p.Gln8455Leu)
c.25352A>T (p.Gln8451Leu)
c.25349A>T (p.Gln8450Leu)
c.25346A>T (p.Gln8449Leu)
c.25502A>T (p.Gln8501Leu)
c.25340A>T (p.Gln8447Leu)
c.23780A>T (p.Gln7927Leu)
c.23273A>T (p.Gln7758Leu)
c.18740A>T (p.Gln6247Leu)
c.2006A>T (p.Gln669Leu)
c.25478A>T (p.Gln8493Leu)
c.25427A>T (p.Gln8476Leu)
c.25280A>T (p.Gln8427Leu)
6g.152140008T>CCA366080134SYNE1c.1934A>G (p.Gln645Arg)
c.25400A>G (p.Gln8467Arg)
c.25256A>G (p.Gln8419Arg)
c.802A>G
c.1135A>G
c.1044A>G
c.1172A>G (p.Gln391Arg)
c.24185A>G (p.Gln8062Arg)
n.2148A>G
c.4235A>G (p.Gln1412Arg)
n.9092A>G
c.3338A>G (p.Gln1113Arg)
n.8984A>G
n.2014A>G
n.4422A>G
n.2237A>G
c.1865A>G (p.Gln622Arg)
c.25505A>G (p.Gln8502Arg)
c.25493A>G (p.Gln8498Arg)
c.25484A>G (p.Gln8495Arg)
c.25454A>G (p.Gln8485Arg)
c.25490A>G (p.Gln8497Arg)
c.25436A>G (p.Gln8479Arg)
c.25433A>G (p.Gln8478Arg)
c.25421A>G (p.Gln8474Arg)
c.25364A>G (p.Gln8455Arg)
c.25352A>G (p.Gln8451Arg)
c.25349A>G (p.Gln8450Arg)
c.25346A>G (p.Gln8449Arg)
c.25502A>G (p.Gln8501Arg)
c.25340A>G (p.Gln8447Arg)
c.23780A>G (p.Gln7927Arg)
c.23273A>G (p.Gln7758Arg)
c.18740A>G (p.Gln6247Arg)
c.2006A>G (p.Gln669Arg)
c.25478A>G (p.Gln8493Arg)
c.25427A>G (p.Gln8476Arg)
c.25280A>G (p.Gln8427Arg)
6g.152140008T>GCA366080138SYNE1c.1934A>C (p.Gln645Pro)
c.25400A>C (p.Gln8467Pro)
c.25256A>C (p.Gln8419Pro)
c.802A>C
c.1135A>C
c.1044A>C
c.1172A>C (p.Gln391Pro)
c.24185A>C (p.Gln8062Pro)
n.2148A>C
c.4235A>C (p.Gln1412Pro)
n.9092A>C
c.3338A>C (p.Gln1113Pro)
n.8984A>C
n.2014A>C
n.4422A>C
n.2237A>C
c.1865A>C (p.Gln622Pro)
c.25505A>C (p.Gln8502Pro)
c.25493A>C (p.Gln8498Pro)
c.25484A>C (p.Gln8495Pro)
c.25454A>C (p.Gln8485Pro)
c.25490A>C (p.Gln8497Pro)
c.25436A>C (p.Gln8479Pro)
c.25433A>C (p.Gln8478Pro)
c.25421A>C (p.Gln8474Pro)
c.25364A>C (p.Gln8455Pro)
c.25352A>C (p.Gln8451Pro)
c.25349A>C (p.Gln8450Pro)
c.25346A>C (p.Gln8449Pro)
c.25502A>C (p.Gln8501Pro)
c.25340A>C (p.Gln8447Pro)
c.23780A>C (p.Gln7927Pro)
c.23273A>C (p.Gln7758Pro)
c.18740A>C (p.Gln6247Pro)
c.2006A>C (p.Gln669Pro)
c.25478A>C (p.Gln8493Pro)
c.25427A>C (p.Gln8476Pro)
c.25280A>C (p.Gln8427Pro)
 gnomAD v4
6g.152140009G>ACA366080140SYNE1c.1933C>T (p.Gln645Ter)
c.25399C>T (p.Gln8467Ter)
c.25255C>T (p.Gln8419Ter)
c.801C>T
c.1134C>T
c.1043C>T
c.1171C>T (p.Gln391Ter)
c.24184C>T (p.Gln8062Ter)
n.2147C>T
c.4234C>T (p.Gln1412Ter)
n.9091C>T
c.3337C>T (p.Gln1113Ter)
n.8983C>T
n.2013C>T
n.4421C>T
n.2236C>T
c.1864C>T (p.Gln622Ter)
c.25504C>T (p.Gln8502Ter)
c.25492C>T (p.Gln8498Ter)
c.25483C>T (p.Gln8495Ter)
c.25453C>T (p.Gln8485Ter)
c.25489C>T (p.Gln8497Ter)
c.25435C>T (p.Gln8479Ter)
c.25432C>T (p.Gln8478Ter)
c.25420C>T (p.Gln8474Ter)
c.25363C>T (p.Gln8455Ter)
c.25351C>T (p.Gln8451Ter)
c.25348C>T (p.Gln8450Ter)
c.25345C>T (p.Gln8449Ter)
c.25501C>T (p.Gln8501Ter)
c.25339C>T (p.Gln8447Ter)
c.23779C>T (p.Gln7927Ter)
c.23272C>T (p.Gln7758Ter)
c.18739C>T (p.Gln6247Ter)
c.2005C>T (p.Gln669Ter)
c.25477C>T (p.Gln8493Ter)
c.25426C>T (p.Gln8476Ter)
c.25279C>T (p.Gln8427Ter)
6g.152140009G>CCA366080143SYNE1c.1933C>G (p.Gln645Glu)
c.25399C>G (p.Gln8467Glu)
c.25255C>G (p.Gln8419Glu)
c.801C>G
c.1134C>G
c.1043C>G
c.1171C>G (p.Gln391Glu)
c.24184C>G (p.Gln8062Glu)
n.2147C>G
c.4234C>G (p.Gln1412Glu)
n.9091C>G
c.3337C>G (p.Gln1113Glu)
n.8983C>G
n.2013C>G
n.4421C>G
n.2236C>G
c.1864C>G (p.Gln622Glu)
c.25504C>G (p.Gln8502Glu)
c.25492C>G (p.Gln8498Glu)
c.25483C>G (p.Gln8495Glu)
c.25453C>G (p.Gln8485Glu)
c.25489C>G (p.Gln8497Glu)
c.25435C>G (p.Gln8479Glu)
c.25432C>G (p.Gln8478Glu)
c.25420C>G (p.Gln8474Glu)
c.25363C>G (p.Gln8455Glu)
c.25351C>G (p.Gln8451Glu)
c.25348C>G (p.Gln8450Glu)
c.25345C>G (p.Gln8449Glu)
c.25501C>G (p.Gln8501Glu)
c.25339C>G (p.Gln8447Glu)
c.23779C>G (p.Gln7927Glu)
c.23272C>G (p.Gln7758Glu)
c.18739C>G (p.Gln6247Glu)
c.2005C>G (p.Gln669Glu)
c.25477C>G (p.Gln8493Glu)
c.25426C>G (p.Gln8476Glu)
c.25279C>G (p.Gln8427Glu)
6g.152140009G>TCA366080142SYNE1c.1933C>A (p.Gln645Lys)
c.25399C>A (p.Gln8467Lys)
c.25255C>A (p.Gln8419Lys)
c.801C>A
c.1134C>A
c.1043C>A
c.1171C>A (p.Gln391Lys)
c.24184C>A (p.Gln8062Lys)
n.2147C>A
c.4234C>A (p.Gln1412Lys)
n.9091C>A
c.3337C>A (p.Gln1113Lys)
n.8983C>A
n.2013C>A
n.4421C>A
n.2236C>A
c.1864C>A (p.Gln622Lys)
c.25504C>A (p.Gln8502Lys)
c.25492C>A (p.Gln8498Lys)
c.25483C>A (p.Gln8495Lys)
c.25453C>A (p.Gln8485Lys)
c.25489C>A (p.Gln8497Lys)
c.25435C>A (p.Gln8479Lys)
c.25432C>A (p.Gln8478Lys)
c.25420C>A (p.Gln8474Lys)
c.25363C>A (p.Gln8455Lys)
c.25351C>A (p.Gln8451Lys)
c.25348C>A (p.Gln8450Lys)
c.25345C>A (p.Gln8449Lys)
c.25501C>A (p.Gln8501Lys)
c.25339C>A (p.Gln8447Lys)
c.23779C>A (p.Gln7927Lys)
c.23272C>A (p.Gln7758Lys)
c.18739C>A (p.Gln6247Lys)
c.2005C>A (p.Gln669Lys)
c.25477C>A (p.Gln8493Lys)
c.25426C>A (p.Gln8476Lys)
c.25279C>A (p.Gln8427Lys)
6g.152140010G>ACA452969840SYNE1c.1932C>T (p.Leu644=)
c.25398C>T (p.Leu8466=)
c.25254C>T (p.Leu8418=)
c.800C>T
c.1133C>T
c.1042C>T
c.1170C>T (p.Leu390=)
c.24183C>T (p.Leu8061=)
n.2146C>T
c.4233C>T (p.Leu1411=)
n.9090C>T
c.3336C>T (p.Leu1112=)
n.8982C>T
n.2012C>T
n.4420C>T
n.2235C>T
c.1863C>T (p.Leu621=)
c.25503C>T (p.Leu8501=)
c.25491C>T (p.Leu8497=)
c.25482C>T (p.Leu8494=)
c.25452C>T (p.Leu8484=)
c.25488C>T (p.Leu8496=)
c.25434C>T (p.Leu8478=)
c.25431C>T (p.Leu8477=)
c.25419C>T (p.Leu8473=)
c.25362C>T (p.Leu8454=)
c.25350C>T (p.Leu8450=)
c.25347C>T (p.Leu8449=)
c.25344C>T (p.Leu8448=)
c.25500C>T (p.Leu8500=)
c.25338C>T (p.Leu8446=)
c.23778C>T (p.Leu7926=)
c.23271C>T (p.Leu7757=)
c.18738C>T (p.Leu6246=)
c.2004C>T (p.Leu668=)
c.25476C>T (p.Leu8492=)
c.25425C>T (p.Leu8475=)
c.25278C>T (p.Leu8426=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140010G>CCA452969841SYNE1c.1932C>G (p.Leu644=)
c.25398C>G (p.Leu8466=)
c.25254C>G (p.Leu8418=)
c.800C>G
c.1133C>G
c.1042C>G
c.1170C>G (p.Leu390=)
c.24183C>G (p.Leu8061=)
n.2146C>G
c.4233C>G (p.Leu1411=)
n.9090C>G
c.3336C>G (p.Leu1112=)
n.8982C>G
n.2012C>G
n.4420C>G
n.2235C>G
c.1863C>G (p.Leu621=)
c.25503C>G (p.Leu8501=)
c.25491C>G (p.Leu8497=)
c.25482C>G (p.Leu8494=)
c.25452C>G (p.Leu8484=)
c.25488C>G (p.Leu8496=)
c.25434C>G (p.Leu8478=)
c.25431C>G (p.Leu8477=)
c.25419C>G (p.Leu8473=)
c.25362C>G (p.Leu8454=)
c.25350C>G (p.Leu8450=)
c.25347C>G (p.Leu8449=)
c.25344C>G (p.Leu8448=)
c.25500C>G (p.Leu8500=)
c.25338C>G (p.Leu8446=)
c.23778C>G (p.Leu7926=)
c.23271C>G (p.Leu7757=)
c.18738C>G (p.Leu6246=)
c.2004C>G (p.Leu668=)
c.25476C>G (p.Leu8492=)
c.25425C>G (p.Leu8475=)
c.25278C>G (p.Leu8426=)
6g.152140010G>TCA452969842SYNE1c.1932C>A (p.Leu644=)
c.25398C>A (p.Leu8466=)
c.25254C>A (p.Leu8418=)
c.800C>A
c.1133C>A
c.1042C>A
c.1170C>A (p.Leu390=)
c.24183C>A (p.Leu8061=)
n.2146C>A
c.4233C>A (p.Leu1411=)
n.9090C>A
c.3336C>A (p.Leu1112=)
n.8982C>A
n.2012C>A
n.4420C>A
n.2235C>A
c.1863C>A (p.Leu621=)
c.25503C>A (p.Leu8501=)
c.25491C>A (p.Leu8497=)
c.25482C>A (p.Leu8494=)
c.25452C>A (p.Leu8484=)
c.25488C>A (p.Leu8496=)
c.25434C>A (p.Leu8478=)
c.25431C>A (p.Leu8477=)
c.25419C>A (p.Leu8473=)
c.25362C>A (p.Leu8454=)
c.25350C>A (p.Leu8450=)
c.25347C>A (p.Leu8449=)
c.25344C>A (p.Leu8448=)
c.25500C>A (p.Leu8500=)
c.25338C>A (p.Leu8446=)
c.23778C>A (p.Leu7926=)
c.23271C>A (p.Leu7757=)
c.18738C>A (p.Leu6246=)
c.2004C>A (p.Leu668=)
c.25476C>A (p.Leu8492=)
c.25425C>A (p.Leu8475=)
c.25278C>A (p.Leu8426=)
6g.152140011A>CCA366080145SYNE1c.1931T>G (p.Leu644Arg)
c.25397T>G (p.Leu8466Arg)
c.25253T>G (p.Leu8418Arg)
c.799T>G
c.1132T>G
c.1041T>G
c.1169T>G (p.Leu390Arg)
c.24182T>G (p.Leu8061Arg)
n.2145T>G
c.4232T>G (p.Leu1411Arg)
n.9089T>G
c.3335T>G (p.Leu1112Arg)
n.8981T>G
n.2011T>G
n.4419T>G
n.2234T>G
c.1862T>G (p.Leu621Arg)
c.25502T>G (p.Leu8501Arg)
c.25490T>G (p.Leu8497Arg)
c.25481T>G (p.Leu8494Arg)
c.25451T>G (p.Leu8484Arg)
c.25487T>G (p.Leu8496Arg)
c.25433T>G (p.Leu8478Arg)
c.25430T>G (p.Leu8477Arg)
c.25418T>G (p.Leu8473Arg)
c.25361T>G (p.Leu8454Arg)
c.25349T>G (p.Leu8450Arg)
c.25346T>G (p.Leu8449Arg)
c.25343T>G (p.Leu8448Arg)
c.25499T>G (p.Leu8500Arg)
c.25337T>G (p.Leu8446Arg)
c.23777T>G (p.Leu7926Arg)
c.23270T>G (p.Leu7757Arg)
c.18737T>G (p.Leu6246Arg)
c.2003T>G (p.Leu668Arg)
c.25475T>G (p.Leu8492Arg)
c.25424T>G (p.Leu8475Arg)
c.25277T>G (p.Leu8426Arg)
6g.152140011A>GCA366080147SYNE1c.1931T>C (p.Leu644Pro)
c.25397T>C (p.Leu8466Pro)
c.25253T>C (p.Leu8418Pro)
c.799T>C
c.1132T>C
c.1041T>C
c.1169T>C (p.Leu390Pro)
c.24182T>C (p.Leu8061Pro)
n.2145T>C
c.4232T>C (p.Leu1411Pro)
n.9089T>C
c.3335T>C (p.Leu1112Pro)
n.8981T>C
n.2011T>C
n.4419T>C
n.2234T>C
c.1862T>C (p.Leu621Pro)
c.25502T>C (p.Leu8501Pro)
c.25490T>C (p.Leu8497Pro)
c.25481T>C (p.Leu8494Pro)
c.25451T>C (p.Leu8484Pro)
c.25487T>C (p.Leu8496Pro)
c.25433T>C (p.Leu8478Pro)
c.25430T>C (p.Leu8477Pro)
c.25418T>C (p.Leu8473Pro)
c.25361T>C (p.Leu8454Pro)
c.25349T>C (p.Leu8450Pro)
c.25346T>C (p.Leu8449Pro)
c.25343T>C (p.Leu8448Pro)
c.25499T>C (p.Leu8500Pro)
c.25337T>C (p.Leu8446Pro)
c.23777T>C (p.Leu7926Pro)
c.23270T>C (p.Leu7757Pro)
c.18737T>C (p.Leu6246Pro)
c.2003T>C (p.Leu668Pro)
c.25475T>C (p.Leu8492Pro)
c.25424T>C (p.Leu8475Pro)
c.25277T>C (p.Leu8426Pro)
6g.152140011A>TCA366080149SYNE1c.1931T>A (p.Leu644His)
c.25397T>A (p.Leu8466His)
c.25253T>A (p.Leu8418His)
c.799T>A
c.1132T>A
c.1041T>A
c.1169T>A (p.Leu390His)
c.24182T>A (p.Leu8061His)
n.2145T>A
c.4232T>A (p.Leu1411His)
n.9089T>A
c.3335T>A (p.Leu1112His)
n.8981T>A
n.2011T>A
n.4419T>A
n.2234T>A
c.1862T>A (p.Leu621His)
c.25502T>A (p.Leu8501His)
c.25490T>A (p.Leu8497His)
c.25481T>A (p.Leu8494His)
c.25451T>A (p.Leu8484His)
c.25487T>A (p.Leu8496His)
c.25433T>A (p.Leu8478His)
c.25430T>A (p.Leu8477His)
c.25418T>A (p.Leu8473His)
c.25361T>A (p.Leu8454His)
c.25349T>A (p.Leu8450His)
c.25346T>A (p.Leu8449His)
c.25343T>A (p.Leu8448His)
c.25499T>A (p.Leu8500His)
c.25337T>A (p.Leu8446His)
c.23777T>A (p.Leu7926His)
c.23270T>A (p.Leu7757His)
c.18737T>A (p.Leu6246His)
c.2003T>A (p.Leu668His)
c.25475T>A (p.Leu8492His)
c.25424T>A (p.Leu8475His)
c.25277T>A (p.Leu8426His)
6g.152140012G>ACA366080151SYNE1c.1930C>T (p.Leu644Phe)
c.25396C>T (p.Leu8466Phe)
c.25252C>T (p.Leu8418Phe)
c.798C>T
c.1131C>T
c.1040C>T
c.1168C>T (p.Leu390Phe)
c.24181C>T (p.Leu8061Phe)
n.2144C>T
c.4231C>T (p.Leu1411Phe)
n.9088C>T
c.3334C>T (p.Leu1112Phe)
n.8980C>T
n.2010C>T
n.4418C>T
n.2233C>T
c.1861C>T (p.Leu621Phe)
c.25501C>T (p.Leu8501Phe)
c.25489C>T (p.Leu8497Phe)
c.25480C>T (p.Leu8494Phe)
c.25450C>T (p.Leu8484Phe)
c.25486C>T (p.Leu8496Phe)
c.25432C>T (p.Leu8478Phe)
c.25429C>T (p.Leu8477Phe)
c.25417C>T (p.Leu8473Phe)
c.25360C>T (p.Leu8454Phe)
c.25348C>T (p.Leu8450Phe)
c.25345C>T (p.Leu8449Phe)
c.25342C>T (p.Leu8448Phe)
c.25498C>T (p.Leu8500Phe)
c.25336C>T (p.Leu8446Phe)
c.23776C>T (p.Leu7926Phe)
c.23269C>T (p.Leu7757Phe)
c.18736C>T (p.Leu6246Phe)
c.2002C>T (p.Leu668Phe)
c.25474C>T (p.Leu8492Phe)
c.25423C>T (p.Leu8475Phe)
c.25276C>T (p.Leu8426Phe)
 dbSNP
6g.152140012G>CCA366080152SYNE1c.1930C>G (p.Leu644Val)
c.25396C>G (p.Leu8466Val)
c.25252C>G (p.Leu8418Val)
c.798C>G
c.1131C>G
c.1040C>G
c.1168C>G (p.Leu390Val)
c.24181C>G (p.Leu8061Val)
n.2144C>G
c.4231C>G (p.Leu1411Val)
n.9088C>G
c.3334C>G (p.Leu1112Val)
n.8980C>G
n.2010C>G
n.4418C>G
n.2233C>G
c.1861C>G (p.Leu621Val)
c.25501C>G (p.Leu8501Val)
c.25489C>G (p.Leu8497Val)
c.25480C>G (p.Leu8494Val)
c.25450C>G (p.Leu8484Val)
c.25486C>G (p.Leu8496Val)
c.25432C>G (p.Leu8478Val)
c.25429C>G (p.Leu8477Val)
c.25417C>G (p.Leu8473Val)
c.25360C>G (p.Leu8454Val)
c.25348C>G (p.Leu8450Val)
c.25345C>G (p.Leu8449Val)
c.25342C>G (p.Leu8448Val)
c.25498C>G (p.Leu8500Val)
c.25336C>G (p.Leu8446Val)
c.23776C>G (p.Leu7926Val)
c.23269C>G (p.Leu7757Val)
c.18736C>G (p.Leu6246Val)
c.2002C>G (p.Leu668Val)
c.25474C>G (p.Leu8492Val)
c.25423C>G (p.Leu8475Val)
c.25276C>G (p.Leu8426Val)
6g.152140012G>TCA366080155SYNE1c.1930C>A (p.Leu644Ile)
c.25396C>A (p.Leu8466Ile)
c.25252C>A (p.Leu8418Ile)
c.798C>A
c.1131C>A
c.1040C>A
c.1168C>A (p.Leu390Ile)
c.24181C>A (p.Leu8061Ile)
n.2144C>A
c.4231C>A (p.Leu1411Ile)
n.9088C>A
c.3334C>A (p.Leu1112Ile)
n.8980C>A
n.2010C>A
n.4418C>A
n.2233C>A
c.1861C>A (p.Leu621Ile)
c.25501C>A (p.Leu8501Ile)
c.25489C>A (p.Leu8497Ile)
c.25480C>A (p.Leu8494Ile)
c.25450C>A (p.Leu8484Ile)
c.25486C>A (p.Leu8496Ile)
c.25432C>A (p.Leu8478Ile)
c.25429C>A (p.Leu8477Ile)
c.25417C>A (p.Leu8473Ile)
c.25360C>A (p.Leu8454Ile)
c.25348C>A (p.Leu8450Ile)
c.25345C>A (p.Leu8449Ile)
c.25342C>A (p.Leu8448Ile)
c.25498C>A (p.Leu8500Ile)
c.25336C>A (p.Leu8446Ile)
c.23776C>A (p.Leu7926Ile)
c.23269C>A (p.Leu7757Ile)
c.18736C>A (p.Leu6246Ile)
c.2002C>A (p.Leu668Ile)
c.25474C>A (p.Leu8492Ile)
c.25423C>A (p.Leu8475Ile)
c.25276C>A (p.Leu8426Ile)
6g.152140013C>ACA366080156SYNE1c.1929G>T (p.Gln643His)
c.25395G>T (p.Gln8465His)
c.25251G>T (p.Gln8417His)
c.797G>T
c.1130G>T
c.1039G>T
c.1167G>T (p.Gln389His)
c.24180G>T (p.Gln8060His)
n.2143G>T
c.4230G>T (p.Gln1410His)
n.9087G>T
c.3333G>T (p.Gln1111His)
n.8979G>T
n.2009G>T
n.4417G>T
n.2232G>T
c.1860G>T (p.Gln620His)
c.25500G>T (p.Gln8500His)
c.25488G>T (p.Gln8496His)
c.25479G>T (p.Gln8493His)
c.25449G>T (p.Gln8483His)
c.25485G>T (p.Gln8495His)
c.25431G>T (p.Gln8477His)
c.25428G>T (p.Gln8476His)
c.25416G>T (p.Gln8472His)
c.25359G>T (p.Gln8453His)
c.25347G>T (p.Gln8449His)
c.25344G>T (p.Gln8448His)
c.25341G>T (p.Gln8447His)
c.25497G>T (p.Gln8499His)
c.25335G>T (p.Gln8445His)
c.23775G>T (p.Gln7925His)
c.23268G>T (p.Gln7756His)
c.18735G>T (p.Gln6245His)
c.2001G>T (p.Gln667His)
c.25473G>T (p.Gln8491His)
c.25422G>T (p.Gln8474His)
c.25275G>T (p.Gln8425His)
6g.152140013C>GCA366080158SYNE1c.1929G>C (p.Gln643His)
c.25395G>C (p.Gln8465His)
c.25251G>C (p.Gln8417His)
c.797G>C
c.1130G>C
c.1039G>C
c.1167G>C (p.Gln389His)
c.24180G>C (p.Gln8060His)
n.2143G>C
c.4230G>C (p.Gln1410His)
n.9087G>C
c.3333G>C (p.Gln1111His)
n.8979G>C
n.2009G>C
n.4417G>C
n.2232G>C
c.1860G>C (p.Gln620His)
c.25500G>C (p.Gln8500His)
c.25488G>C (p.Gln8496His)
c.25479G>C (p.Gln8493His)
c.25449G>C (p.Gln8483His)
c.25485G>C (p.Gln8495His)
c.25431G>C (p.Gln8477His)
c.25428G>C (p.Gln8476His)
c.25416G>C (p.Gln8472His)
c.25359G>C (p.Gln8453His)
c.25347G>C (p.Gln8449His)
c.25344G>C (p.Gln8448His)
c.25341G>C (p.Gln8447His)
c.25497G>C (p.Gln8499His)
c.25335G>C (p.Gln8445His)
c.23775G>C (p.Gln7925His)
c.23268G>C (p.Gln7756His)
c.18735G>C (p.Gln6245His)
c.2001G>C (p.Gln667His)
c.25473G>C (p.Gln8491His)
c.25422G>C (p.Gln8474His)
c.25275G>C (p.Gln8425His)
6g.152140013C>TCA452969845SYNE1c.1929G>A (p.Gln643=)
c.25395G>A (p.Gln8465=)
c.25251G>A (p.Gln8417=)
c.797G>A
c.1130G>A
c.1039G>A
c.1167G>A (p.Gln389=)
c.24180G>A (p.Gln8060=)
n.2143G>A
c.4230G>A (p.Gln1410=)
n.9087G>A
c.3333G>A (p.Gln1111=)
n.8979G>A
n.2009G>A
n.4417G>A
n.2232G>A
c.1860G>A (p.Gln620=)
c.25500G>A (p.Gln8500=)
c.25488G>A (p.Gln8496=)
c.25479G>A (p.Gln8493=)
c.25449G>A (p.Gln8483=)
c.25485G>A (p.Gln8495=)
c.25431G>A (p.Gln8477=)
c.25428G>A (p.Gln8476=)
c.25416G>A (p.Gln8472=)
c.25359G>A (p.Gln8453=)
c.25347G>A (p.Gln8449=)
c.25344G>A (p.Gln8448=)
c.25341G>A (p.Gln8447=)
c.25497G>A (p.Gln8499=)
c.25335G>A (p.Gln8445=)
c.23775G>A (p.Gln7925=)
c.23268G>A (p.Gln7756=)
c.18735G>A (p.Gln6245=)
c.2001G>A (p.Gln667=)
c.25473G>A (p.Gln8491=)
c.25422G>A (p.Gln8474=)
c.25275G>A (p.Gln8425=)
6g.152140014T>ACA366080160SYNE1c.1928A>T (p.Gln643Leu)
c.25394A>T (p.Gln8465Leu)
c.25250A>T (p.Gln8417Leu)
c.796A>T
c.1129A>T
c.1038A>T
c.1166A>T (p.Gln389Leu)
c.24179A>T (p.Gln8060Leu)
n.2142A>T
c.4229A>T (p.Gln1410Leu)
n.9086A>T
c.3332A>T (p.Gln1111Leu)
n.8978A>T
n.2008A>T
n.4416A>T
n.2231A>T
c.1859A>T (p.Gln620Leu)
c.25499A>T (p.Gln8500Leu)
c.25487A>T (p.Gln8496Leu)
c.25478A>T (p.Gln8493Leu)
c.25448A>T (p.Gln8483Leu)
c.25484A>T (p.Gln8495Leu)
c.25430A>T (p.Gln8477Leu)
c.25427A>T (p.Gln8476Leu)
c.25415A>T (p.Gln8472Leu)
c.25358A>T (p.Gln8453Leu)
c.25346A>T (p.Gln8449Leu)
c.25343A>T (p.Gln8448Leu)
c.25340A>T (p.Gln8447Leu)
c.25496A>T (p.Gln8499Leu)
c.25334A>T (p.Gln8445Leu)
c.23774A>T (p.Gln7925Leu)
c.23267A>T (p.Gln7756Leu)
c.18734A>T (p.Gln6245Leu)
c.2000A>T (p.Gln667Leu)
c.25472A>T (p.Gln8491Leu)
c.25421A>T (p.Gln8474Leu)
c.25274A>T (p.Gln8425Leu)
6g.152140014T>CCA366080161SYNE1c.1928A>G (p.Gln643Arg)
c.25394A>G (p.Gln8465Arg)
c.25250A>G (p.Gln8417Arg)
c.796A>G
c.1129A>G
c.1038A>G
c.1166A>G (p.Gln389Arg)
c.24179A>G (p.Gln8060Arg)
n.2142A>G
c.4229A>G (p.Gln1410Arg)
n.9086A>G
c.3332A>G (p.Gln1111Arg)
n.8978A>G
n.2008A>G
n.4416A>G
n.2231A>G
c.1859A>G (p.Gln620Arg)
c.25499A>G (p.Gln8500Arg)
c.25487A>G (p.Gln8496Arg)
c.25478A>G (p.Gln8493Arg)
c.25448A>G (p.Gln8483Arg)
c.25484A>G (p.Gln8495Arg)
c.25430A>G (p.Gln8477Arg)
c.25427A>G (p.Gln8476Arg)
c.25415A>G (p.Gln8472Arg)
c.25358A>G (p.Gln8453Arg)
c.25346A>G (p.Gln8449Arg)
c.25343A>G (p.Gln8448Arg)
c.25340A>G (p.Gln8447Arg)
c.25496A>G (p.Gln8499Arg)
c.25334A>G (p.Gln8445Arg)
c.23774A>G (p.Gln7925Arg)
c.23267A>G (p.Gln7756Arg)
c.18734A>G (p.Gln6245Arg)
c.2000A>G (p.Gln667Arg)
c.25472A>G (p.Gln8491Arg)
c.25421A>G (p.Gln8474Arg)
c.25274A>G (p.Gln8425Arg)
6g.152140014T>GCA366080163SYNE1c.1928A>C (p.Gln643Pro)
c.25394A>C (p.Gln8465Pro)
c.25250A>C (p.Gln8417Pro)
c.796A>C
c.1129A>C
c.1038A>C
c.1166A>C (p.Gln389Pro)
c.24179A>C (p.Gln8060Pro)
n.2142A>C
c.4229A>C (p.Gln1410Pro)
n.9086A>C
c.3332A>C (p.Gln1111Pro)
n.8978A>C
n.2008A>C
n.4416A>C
n.2231A>C
c.1859A>C (p.Gln620Pro)
c.25499A>C (p.Gln8500Pro)
c.25487A>C (p.Gln8496Pro)
c.25478A>C (p.Gln8493Pro)
c.25448A>C (p.Gln8483Pro)
c.25484A>C (p.Gln8495Pro)
c.25430A>C (p.Gln8477Pro)
c.25427A>C (p.Gln8476Pro)
c.25415A>C (p.Gln8472Pro)
c.25358A>C (p.Gln8453Pro)
c.25346A>C (p.Gln8449Pro)
c.25343A>C (p.Gln8448Pro)
c.25340A>C (p.Gln8447Pro)
c.25496A>C (p.Gln8499Pro)
c.25334A>C (p.Gln8445Pro)
c.23774A>C (p.Gln7925Pro)
c.23267A>C (p.Gln7756Pro)
c.18734A>C (p.Gln6245Pro)
c.2000A>C (p.Gln667Pro)
c.25472A>C (p.Gln8491Pro)
c.25421A>C (p.Gln8474Pro)
c.25274A>C (p.Gln8425Pro)
6g.152140015G>ACA366080165SYNE1c.1927C>T (p.Gln643Ter)
c.25393C>T (p.Gln8465Ter)
c.25249C>T (p.Gln8417Ter)
c.795C>T
c.1128C>T
c.1037C>T
c.1165C>T (p.Gln389Ter)
c.24178C>T (p.Gln8060Ter)
n.2141C>T
c.4228C>T (p.Gln1410Ter)
n.9085C>T
c.3331C>T (p.Gln1111Ter)
n.8977C>T
n.2007C>T
n.4415C>T
n.2230C>T
c.1858C>T (p.Gln620Ter)
c.25498C>T (p.Gln8500Ter)
c.25486C>T (p.Gln8496Ter)
c.25477C>T (p.Gln8493Ter)
c.25447C>T (p.Gln8483Ter)
c.25483C>T (p.Gln8495Ter)
c.25429C>T (p.Gln8477Ter)
c.25426C>T (p.Gln8476Ter)
c.25414C>T (p.Gln8472Ter)
c.25357C>T (p.Gln8453Ter)
c.25345C>T (p.Gln8449Ter)
c.25342C>T (p.Gln8448Ter)
c.25339C>T (p.Gln8447Ter)
c.25495C>T (p.Gln8499Ter)
c.25333C>T (p.Gln8445Ter)
c.23773C>T (p.Gln7925Ter)
c.23266C>T (p.Gln7756Ter)
c.18733C>T (p.Gln6245Ter)
c.1999C>T (p.Gln667Ter)
c.25471C>T (p.Gln8491Ter)
c.25420C>T (p.Gln8474Ter)
c.25273C>T (p.Gln8425Ter)
6g.152140015G>CCA366080169SYNE1c.1927C>G (p.Gln643Glu)
c.25393C>G (p.Gln8465Glu)
c.25249C>G (p.Gln8417Glu)
c.795C>G
c.1128C>G
c.1037C>G
c.1165C>G (p.Gln389Glu)
c.24178C>G (p.Gln8060Glu)
n.2141C>G
c.4228C>G (p.Gln1410Glu)
n.9085C>G
c.3331C>G (p.Gln1111Glu)
n.8977C>G
n.2007C>G
n.4415C>G
n.2230C>G
c.1858C>G (p.Gln620Glu)
c.25498C>G (p.Gln8500Glu)
c.25486C>G (p.Gln8496Glu)
c.25477C>G (p.Gln8493Glu)
c.25447C>G (p.Gln8483Glu)
c.25483C>G (p.Gln8495Glu)
c.25429C>G (p.Gln8477Glu)
c.25426C>G (p.Gln8476Glu)
c.25414C>G (p.Gln8472Glu)
c.25357C>G (p.Gln8453Glu)
c.25345C>G (p.Gln8449Glu)
c.25342C>G (p.Gln8448Glu)
c.25339C>G (p.Gln8447Glu)
c.25495C>G (p.Gln8499Glu)
c.25333C>G (p.Gln8445Glu)
c.23773C>G (p.Gln7925Glu)
c.23266C>G (p.Gln7756Glu)
c.18733C>G (p.Gln6245Glu)
c.1999C>G (p.Gln667Glu)
c.25471C>G (p.Gln8491Glu)
c.25420C>G (p.Gln8474Glu)
c.25273C>G (p.Gln8425Glu)
6g.152140015G>TCA366080167SYNE1c.1927C>A (p.Gln643Lys)
c.25393C>A (p.Gln8465Lys)
c.25249C>A (p.Gln8417Lys)
c.795C>A
c.1128C>A
c.1037C>A
c.1165C>A (p.Gln389Lys)
c.24178C>A (p.Gln8060Lys)
n.2141C>A
c.4228C>A (p.Gln1410Lys)
n.9085C>A
c.3331C>A (p.Gln1111Lys)
n.8977C>A
n.2007C>A
n.4415C>A
n.2230C>A
c.1858C>A (p.Gln620Lys)
c.25498C>A (p.Gln8500Lys)
c.25486C>A (p.Gln8496Lys)
c.25477C>A (p.Gln8493Lys)
c.25447C>A (p.Gln8483Lys)
c.25483C>A (p.Gln8495Lys)
c.25429C>A (p.Gln8477Lys)
c.25426C>A (p.Gln8476Lys)
c.25414C>A (p.Gln8472Lys)
c.25357C>A (p.Gln8453Lys)
c.25345C>A (p.Gln8449Lys)
c.25342C>A (p.Gln8448Lys)
c.25339C>A (p.Gln8447Lys)
c.25495C>A (p.Gln8499Lys)
c.25333C>A (p.Gln8445Lys)
c.23773C>A (p.Gln7925Lys)
c.23266C>A (p.Gln7756Lys)
c.18733C>A (p.Gln6245Lys)
c.1999C>A (p.Gln667Lys)
c.25471C>A (p.Gln8491Lys)
c.25420C>A (p.Gln8474Lys)
c.25273C>A (p.Gln8425Lys)
6g.152140016T>ACA366080171SYNE1c.1926A>T (p.Glu642Asp)
c.25392A>T (p.Glu8464Asp)
c.25248A>T (p.Glu8416Asp)
c.794A>T
c.1127A>T
c.1036A>T
c.1164A>T (p.Glu388Asp)
c.24177A>T (p.Glu8059Asp)
n.2140A>T
c.4227A>T (p.Glu1409Asp)
n.9084A>T
c.3330A>T (p.Glu1110Asp)
n.8976A>T
n.2006A>T
n.4414A>T
n.2229A>T
c.1857A>T (p.Glu619Asp)
c.25497A>T (p.Glu8499Asp)
c.25485A>T (p.Glu8495Asp)
c.25476A>T (p.Glu8492Asp)
c.25446A>T (p.Glu8482Asp)
c.25482A>T (p.Glu8494Asp)
c.25428A>T (p.Glu8476Asp)
c.25425A>T (p.Glu8475Asp)
c.25413A>T (p.Glu8471Asp)
c.25356A>T (p.Glu8452Asp)
c.25344A>T (p.Glu8448Asp)
c.25341A>T (p.Glu8447Asp)
c.25338A>T (p.Glu8446Asp)
c.25494A>T (p.Glu8498Asp)
c.25332A>T (p.Glu8444Asp)
c.23772A>T (p.Glu7924Asp)
c.23265A>T (p.Glu7755Asp)
c.18732A>T (p.Glu6244Asp)
c.1998A>T (p.Glu666Asp)
c.25470A>T (p.Glu8490Asp)
c.25419A>T (p.Glu8473Asp)
c.25272A>T (p.Glu8424Asp)
6g.152140016T>CCA452969849SYNE1c.1926A>G (p.Glu642=)
c.25392A>G (p.Glu8464=)
c.25248A>G (p.Glu8416=)
c.794A>G
c.1127A>G
c.1036A>G
c.1164A>G (p.Glu388=)
c.24177A>G (p.Glu8059=)
n.2140A>G
c.4227A>G (p.Glu1409=)
n.9084A>G
c.3330A>G (p.Glu1110=)
n.8976A>G
n.2006A>G
n.4414A>G
n.2229A>G
c.1857A>G (p.Glu619=)
c.25497A>G (p.Glu8499=)
c.25485A>G (p.Glu8495=)
c.25476A>G (p.Glu8492=)
c.25446A>G (p.Glu8482=)
c.25482A>G (p.Glu8494=)
c.25428A>G (p.Glu8476=)
c.25425A>G (p.Glu8475=)
c.25413A>G (p.Glu8471=)
c.25356A>G (p.Glu8452=)
c.25344A>G (p.Glu8448=)
c.25341A>G (p.Glu8447=)
c.25338A>G (p.Glu8446=)
c.25494A>G (p.Glu8498=)
c.25332A>G (p.Glu8444=)
c.23772A>G (p.Glu7924=)
c.23265A>G (p.Glu7755=)
c.18732A>G (p.Glu6244=)
c.1998A>G (p.Glu666=)
c.25470A>G (p.Glu8490=)
c.25419A>G (p.Glu8473=)
c.25272A>G (p.Glu8424=)
6g.152140016T>GCA366080172SYNE1c.1926A>C (p.Glu642Asp)
c.25392A>C (p.Glu8464Asp)
c.25248A>C (p.Glu8416Asp)
c.794A>C
c.1127A>C
c.1036A>C
c.1164A>C (p.Glu388Asp)
c.24177A>C (p.Glu8059Asp)
n.2140A>C
c.4227A>C (p.Glu1409Asp)
n.9084A>C
c.3330A>C (p.Glu1110Asp)
n.8976A>C
n.2006A>C
n.4414A>C
n.2229A>C
c.1857A>C (p.Glu619Asp)
c.25497A>C (p.Glu8499Asp)
c.25485A>C (p.Glu8495Asp)
c.25476A>C (p.Glu8492Asp)
c.25446A>C (p.Glu8482Asp)
c.25482A>C (p.Glu8494Asp)
c.25428A>C (p.Glu8476Asp)
c.25425A>C (p.Glu8475Asp)
c.25413A>C (p.Glu8471Asp)
c.25356A>C (p.Glu8452Asp)
c.25344A>C (p.Glu8448Asp)
c.25341A>C (p.Glu8447Asp)
c.25338A>C (p.Glu8446Asp)
c.25494A>C (p.Glu8498Asp)
c.25332A>C (p.Glu8444Asp)
c.23772A>C (p.Glu7924Asp)
c.23265A>C (p.Glu7755Asp)
c.18732A>C (p.Glu6244Asp)
c.1998A>C (p.Glu666Asp)
c.25470A>C (p.Glu8490Asp)
c.25419A>C (p.Glu8473Asp)
c.25272A>C (p.Glu8424Asp)
6g.152140016_152140017insCTTTATTCCTCTTTATACAAACGTATTCACTTTCCCACA2680812938SYNE1c.1925_1926insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu642AspfsTer9)
c.25391_25392insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8464AspfsTer9)
c.25247_25248insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8416AspfsTer9)
c.793_794insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.1126_1127insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.1035_1036insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.1163_1164insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu388AspfsTer9)
c.24176_24177insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8059AspfsTer9)
n.2139_2140insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.4226_4227insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu1409AspfsTer9)
n.9083_9084insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.3329_3330insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu1110AspfsTer9)
n.8975_8976insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
n.2005_2006insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
n.4413_4414insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
n.2228_2229insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG
c.1856_1857insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu619AspfsTer9)
c.25496_25497insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8499AspfsTer9)
c.25484_25485insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8495AspfsTer9)
c.25475_25476insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8492AspfsTer9)
c.25445_25446insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8482AspfsTer9)
c.25481_25482insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8494AspfsTer9)
c.25427_25428insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8476AspfsTer9)
c.25424_25425insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8475AspfsTer9)
c.25412_25413insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8471AspfsTer9)
c.25355_25356insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8452AspfsTer9)
c.25343_25344insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8448AspfsTer9)
c.25340_25341insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8447AspfsTer9)
c.25337_25338insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8446AspfsTer9)
c.25493_25494insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8498AspfsTer9)
c.25331_25332insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8444AspfsTer9)
c.23771_23772insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu7924AspfsTer9)
c.23264_23265insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu7755AspfsTer9)
c.18731_18732insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu6244AspfsTer9)
c.1997_1998insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu666AspfsTer9)
c.25469_25470insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8490AspfsTer9)
c.25418_25419insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8473AspfsTer9)
c.25271_25272insTGGGAAAGTGAATACGTTTGTATAAAGAGGAATAAAG (p.Glu8424AspfsTer9)
 gnomAD v4
6g.152140017T>ACA366080175SYNE1c.1925A>T (p.Glu642Val)
c.25391A>T (p.Glu8464Val)
c.25247A>T (p.Glu8416Val)
c.793A>T
c.1126A>T
c.1035A>T
c.1163A>T (p.Glu388Val)
c.24176A>T (p.Glu8059Val)
n.2139A>T
c.4226A>T (p.Glu1409Val)
n.9083A>T
c.3329A>T (p.Glu1110Val)
n.8975A>T
n.2005A>T
n.4413A>T
n.2228A>T
c.1856A>T (p.Glu619Val)
c.25496A>T (p.Glu8499Val)
c.25484A>T (p.Glu8495Val)
c.25475A>T (p.Glu8492Val)
c.25445A>T (p.Glu8482Val)
c.25481A>T (p.Glu8494Val)
c.25427A>T (p.Glu8476Val)
c.25424A>T (p.Glu8475Val)
c.25412A>T (p.Glu8471Val)
c.25355A>T (p.Glu8452Val)
c.25343A>T (p.Glu8448Val)
c.25340A>T (p.Glu8447Val)
c.25337A>T (p.Glu8446Val)
c.25493A>T (p.Glu8498Val)
c.25331A>T (p.Glu8444Val)
c.23771A>T (p.Glu7924Val)
c.23264A>T (p.Glu7755Val)
c.18731A>T (p.Glu6244Val)
c.1997A>T (p.Glu666Val)
c.25469A>T (p.Glu8490Val)
c.25418A>T (p.Glu8473Val)
c.25271A>T (p.Glu8424Val)
 gnomAD v4
6g.152140017T>CCA366080177SYNE1c.1925A>G (p.Glu642Gly)
c.25391A>G (p.Glu8464Gly)
c.25247A>G (p.Glu8416Gly)
c.793A>G
c.1126A>G
c.1035A>G
c.1163A>G (p.Glu388Gly)
c.24176A>G (p.Glu8059Gly)
n.2139A>G
c.4226A>G (p.Glu1409Gly)
n.9083A>G
c.3329A>G (p.Glu1110Gly)
n.8975A>G
n.2005A>G
n.4413A>G
n.2228A>G
c.1856A>G (p.Glu619Gly)
c.25496A>G (p.Glu8499Gly)
c.25484A>G (p.Glu8495Gly)
c.25475A>G (p.Glu8492Gly)
c.25445A>G (p.Glu8482Gly)
c.25481A>G (p.Glu8494Gly)
c.25427A>G (p.Glu8476Gly)
c.25424A>G (p.Glu8475Gly)
c.25412A>G (p.Glu8471Gly)
c.25355A>G (p.Glu8452Gly)
c.25343A>G (p.Glu8448Gly)
c.25340A>G (p.Glu8447Gly)
c.25337A>G (p.Glu8446Gly)
c.25493A>G (p.Glu8498Gly)
c.25331A>G (p.Glu8444Gly)
c.23771A>G (p.Glu7924Gly)
c.23264A>G (p.Glu7755Gly)
c.18731A>G (p.Glu6244Gly)
c.1997A>G (p.Glu666Gly)
c.25469A>G (p.Glu8490Gly)
c.25418A>G (p.Glu8473Gly)
c.25271A>G (p.Glu8424Gly)
6g.152140017T>GCA366080176SYNE1c.1925A>C (p.Glu642Ala)
c.25391A>C (p.Glu8464Ala)
c.25247A>C (p.Glu8416Ala)
c.793A>C
c.1126A>C
c.1035A>C
c.1163A>C (p.Glu388Ala)
c.24176A>C (p.Glu8059Ala)
n.2139A>C
c.4226A>C (p.Glu1409Ala)
n.9083A>C
c.3329A>C (p.Glu1110Ala)
n.8975A>C
n.2005A>C
n.4413A>C
n.2228A>C
c.1856A>C (p.Glu619Ala)
c.25496A>C (p.Glu8499Ala)
c.25484A>C (p.Glu8495Ala)
c.25475A>C (p.Glu8492Ala)
c.25445A>C (p.Glu8482Ala)
c.25481A>C (p.Glu8494Ala)
c.25427A>C (p.Glu8476Ala)
c.25424A>C (p.Glu8475Ala)
c.25412A>C (p.Glu8471Ala)
c.25355A>C (p.Glu8452Ala)
c.25343A>C (p.Glu8448Ala)
c.25340A>C (p.Glu8447Ala)
c.25337A>C (p.Glu8446Ala)
c.25493A>C (p.Glu8498Ala)
c.25331A>C (p.Glu8444Ala)
c.23771A>C (p.Glu7924Ala)
c.23264A>C (p.Glu7755Ala)
c.18731A>C (p.Glu6244Ala)
c.1997A>C (p.Glu666Ala)
c.25469A>C (p.Glu8490Ala)
c.25418A>C (p.Glu8473Ala)
c.25271A>C (p.Glu8424Ala)
6g.152140018C>ACA366080179SYNE1c.1924G>T (p.Glu642Ter)
c.25390G>T (p.Glu8464Ter)
c.25246G>T (p.Glu8416Ter)
c.792G>T
c.1125G>T
c.1034G>T
c.1162G>T (p.Glu388Ter)
c.24175G>T (p.Glu8059Ter)
n.2138G>T
c.4225G>T (p.Glu1409Ter)
n.9082G>T
c.3328G>T (p.Glu1110Ter)
n.8974G>T
n.2004G>T
n.4412G>T
n.2227G>T
c.1855G>T (p.Glu619Ter)
c.25495G>T (p.Glu8499Ter)
c.25483G>T (p.Glu8495Ter)
c.25474G>T (p.Glu8492Ter)
c.25444G>T (p.Glu8482Ter)
c.25480G>T (p.Glu8494Ter)
c.25426G>T (p.Glu8476Ter)
c.25423G>T (p.Glu8475Ter)
c.25411G>T (p.Glu8471Ter)
c.25354G>T (p.Glu8452Ter)
c.25342G>T (p.Glu8448Ter)
c.25339G>T (p.Glu8447Ter)
c.25336G>T (p.Glu8446Ter)
c.25492G>T (p.Glu8498Ter)
c.25330G>T (p.Glu8444Ter)
c.23770G>T (p.Glu7924Ter)
c.23263G>T (p.Glu7755Ter)
c.18730G>T (p.Glu6244Ter)
c.1996G>T (p.Glu666Ter)
c.25468G>T (p.Glu8490Ter)
c.25417G>T (p.Glu8473Ter)
c.25270G>T (p.Glu8424Ter)
6g.152140018C=CA1673206232SYNE1c.1924G= (p.Glu642=)
c.25390G= (p.Glu8464=)
c.25246G= (p.Glu8416=)
c.792G=
c.1125G=
c.1034G=
c.1162G= (p.Glu388=)
c.24175G= (p.Glu8059=)
n.2138G=
c.4225G= (p.Glu1409=)
n.9082G=
c.3328G= (p.Glu1110=)
n.8974G=
n.2004G=
n.4412G=
n.2227G=
c.1855G= (p.Glu619=)
c.25495G= (p.Glu8499=)
c.25483G= (p.Glu8495=)
c.25474G= (p.Glu8492=)
c.25444G= (p.Glu8482=)
c.25480G= (p.Glu8494=)
c.25426G= (p.Glu8476=)
c.25423G= (p.Glu8475=)
c.25411G= (p.Glu8471=)
c.25354G= (p.Glu8452=)
c.25342G= (p.Glu8448=)
c.25339G= (p.Glu8447=)
c.25336G= (p.Glu8446=)
c.25492G= (p.Glu8498=)
c.25330G= (p.Glu8444=)
c.23770G= (p.Glu7924=)
c.23263G= (p.Glu7755=)
c.18730G= (p.Glu6244=)
c.1996G= (p.Glu666=)
c.25468G= (p.Glu8490=)
c.25417G= (p.Glu8473=)
c.25270G= (p.Glu8424=)
6g.152140018C>GCA366080183SYNE1c.1924G>C (p.Glu642Gln)
c.25390G>C (p.Glu8464Gln)
c.25246G>C (p.Glu8416Gln)
c.792G>C
c.1125G>C
c.1034G>C
c.1162G>C (p.Glu388Gln)
c.24175G>C (p.Glu8059Gln)
n.2138G>C
c.4225G>C (p.Glu1409Gln)
n.9082G>C
c.3328G>C (p.Glu1110Gln)
n.8974G>C
n.2004G>C
n.4412G>C
n.2227G>C
c.1855G>C (p.Glu619Gln)
c.25495G>C (p.Glu8499Gln)
c.25483G>C (p.Glu8495Gln)
c.25474G>C (p.Glu8492Gln)
c.25444G>C (p.Glu8482Gln)
c.25480G>C (p.Glu8494Gln)
c.25426G>C (p.Glu8476Gln)
c.25423G>C (p.Glu8475Gln)
c.25411G>C (p.Glu8471Gln)
c.25354G>C (p.Glu8452Gln)
c.25342G>C (p.Glu8448Gln)
c.25339G>C (p.Glu8447Gln)
c.25336G>C (p.Glu8446Gln)
c.25492G>C (p.Glu8498Gln)
c.25330G>C (p.Glu8444Gln)
c.23770G>C (p.Glu7924Gln)
c.23263G>C (p.Glu7755Gln)
c.18730G>C (p.Glu6244Gln)
c.1996G>C (p.Glu666Gln)
c.25468G>C (p.Glu8490Gln)
c.25417G>C (p.Glu8473Gln)
c.25270G>C (p.Glu8424Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.152140018C>TCA366080181SYNE1c.1924G>A (p.Glu642Lys)
c.25390G>A (p.Glu8464Lys)
c.25246G>A (p.Glu8416Lys)
c.792G>A
c.1125G>A
c.1034G>A
c.1162G>A (p.Glu388Lys)
c.24175G>A (p.Glu8059Lys)
n.2138G>A
c.4225G>A (p.Glu1409Lys)
n.9082G>A
c.3328G>A (p.Glu1110Lys)
n.8974G>A
n.2004G>A
n.4412G>A
n.2227G>A
c.1855G>A (p.Glu619Lys)
c.25495G>A (p.Glu8499Lys)
c.25483G>A (p.Glu8495Lys)
c.25474G>A (p.Glu8492Lys)
c.25444G>A (p.Glu8482Lys)
c.25480G>A (p.Glu8494Lys)
c.25426G>A (p.Glu8476Lys)
c.25423G>A (p.Glu8475Lys)
c.25411G>A (p.Glu8471Lys)
c.25354G>A (p.Glu8452Lys)
c.25342G>A (p.Glu8448Lys)
c.25339G>A (p.Glu8447Lys)
c.25336G>A (p.Glu8446Lys)
c.25492G>A (p.Glu8498Lys)
c.25330G>A (p.Glu8444Lys)
c.23770G>A (p.Glu7924Lys)
c.23263G>A (p.Glu7755Lys)
c.18730G>A (p.Glu6244Lys)
c.1996G>A (p.Glu666Lys)
c.25468G>A (p.Glu8490Lys)
c.25417G>A (p.Glu8473Lys)
c.25270G>A (p.Glu8424Lys)
 gnomAD v4
6g.152140019C>ACA366080184SYNE1c.1923G>T (p.Leu641Phe)
c.25389G>T (p.Leu8463Phe)
c.25245G>T (p.Leu8415Phe)
c.791G>T
c.1124G>T
c.1033G>T
c.1161G>T (p.Leu387Phe)
c.24174G>T (p.Leu8058Phe)
n.2137G>T
c.4224G>T (p.Leu1408Phe)
n.9081G>T
c.3327G>T (p.Leu1109Phe)
n.8973G>T
n.2003G>T
n.4411G>T
n.2226G>T
c.1854G>T (p.Leu618Phe)
c.25494G>T (p.Leu8498Phe)
c.25482G>T (p.Leu8494Phe)
c.25473G>T (p.Leu8491Phe)
c.25443G>T (p.Leu8481Phe)
c.25479G>T (p.Leu8493Phe)
c.25425G>T (p.Leu8475Phe)
c.25422G>T (p.Leu8474Phe)
c.25410G>T (p.Leu8470Phe)
c.25353G>T (p.Leu8451Phe)
c.25341G>T (p.Leu8447Phe)
c.25338G>T (p.Leu8446Phe)
c.25335G>T (p.Leu8445Phe)
c.25491G>T (p.Leu8497Phe)
c.25329G>T (p.Leu8443Phe)
c.23769G>T (p.Leu7923Phe)
c.23262G>T (p.Leu7754Phe)
c.18729G>T (p.Leu6243Phe)
c.1995G>T (p.Leu665Phe)
c.25467G>T (p.Leu8489Phe)
c.25416G>T (p.Leu8472Phe)
c.25269G>T (p.Leu8423Phe)
6g.152140019C=CA1673206234SYNE1c.1923G= (p.Leu641=)
c.25389G= (p.Leu8463=)
c.25245G= (p.Leu8415=)
c.791G=
c.1124G=
c.1033G=
c.1161G= (p.Leu387=)
c.24174G= (p.Leu8058=)
n.2137G=
c.4224G= (p.Leu1408=)
n.9081G=
c.3327G= (p.Leu1109=)
n.8973G=
n.2003G=
n.4411G=
n.2226G=
c.1854G= (p.Leu618=)
c.25494G= (p.Leu8498=)
c.25482G= (p.Leu8494=)
c.25473G= (p.Leu8491=)
c.25443G= (p.Leu8481=)
c.25479G= (p.Leu8493=)
c.25425G= (p.Leu8475=)
c.25422G= (p.Leu8474=)
c.25410G= (p.Leu8470=)
c.25353G= (p.Leu8451=)
c.25341G= (p.Leu8447=)
c.25338G= (p.Leu8446=)
c.25335G= (p.Leu8445=)
c.25491G= (p.Leu8497=)
c.25329G= (p.Leu8443=)
c.23769G= (p.Leu7923=)
c.23262G= (p.Leu7754=)
c.18729G= (p.Leu6243=)
c.1995G= (p.Leu665=)
c.25467G= (p.Leu8489=)
c.25416G= (p.Leu8472=)
c.25269G= (p.Leu8423=)
6g.152140019C>GCA366080186SYNE1c.1923G>C (p.Leu641Phe)
c.25389G>C (p.Leu8463Phe)
c.25245G>C (p.Leu8415Phe)
c.791G>C
c.1124G>C
c.1033G>C
c.1161G>C (p.Leu387Phe)
c.24174G>C (p.Leu8058Phe)
n.2137G>C
c.4224G>C (p.Leu1408Phe)
n.9081G>C
c.3327G>C (p.Leu1109Phe)
n.8973G>C
n.2003G>C
n.4411G>C
n.2226G>C
c.1854G>C (p.Leu618Phe)
c.25494G>C (p.Leu8498Phe)
c.25482G>C (p.Leu8494Phe)
c.25473G>C (p.Leu8491Phe)
c.25443G>C (p.Leu8481Phe)
c.25479G>C (p.Leu8493Phe)
c.25425G>C (p.Leu8475Phe)
c.25422G>C (p.Leu8474Phe)
c.25410G>C (p.Leu8470Phe)
c.25353G>C (p.Leu8451Phe)
c.25341G>C (p.Leu8447Phe)
c.25338G>C (p.Leu8446Phe)
c.25335G>C (p.Leu8445Phe)
c.25491G>C (p.Leu8497Phe)
c.25329G>C (p.Leu8443Phe)
c.23769G>C (p.Leu7923Phe)
c.23262G>C (p.Leu7754Phe)
c.18729G>C (p.Leu6243Phe)
c.1995G>C (p.Leu665Phe)
c.25467G>C (p.Leu8489Phe)
c.25416G>C (p.Leu8472Phe)
c.25269G>C (p.Leu8423Phe)
6g.152140019C>TCA452969853SYNE1c.1923G>A (p.Leu641=)
c.25389G>A (p.Leu8463=)
c.25245G>A (p.Leu8415=)
c.791G>A
c.1124G>A
c.1033G>A
c.1161G>A (p.Leu387=)
c.24174G>A (p.Leu8058=)
n.2137G>A
c.4224G>A (p.Leu1408=)
n.9081G>A
c.3327G>A (p.Leu1109=)
n.8973G>A
n.2003G>A
n.4411G>A
n.2226G>A
c.1854G>A (p.Leu618=)
c.25494G>A (p.Leu8498=)
c.25482G>A (p.Leu8494=)
c.25473G>A (p.Leu8491=)
c.25443G>A (p.Leu8481=)
c.25479G>A (p.Leu8493=)
c.25425G>A (p.Leu8475=)
c.25422G>A (p.Leu8474=)
c.25410G>A (p.Leu8470=)
c.25353G>A (p.Leu8451=)
c.25341G>A (p.Leu8447=)
c.25338G>A (p.Leu8446=)
c.25335G>A (p.Leu8445=)
c.25491G>A (p.Leu8497=)
c.25329G>A (p.Leu8443=)
c.23769G>A (p.Leu7923=)
c.23262G>A (p.Leu7754=)
c.18729G>A (p.Leu6243=)
c.1995G>A (p.Leu665=)
c.25467G>A (p.Leu8489=)
c.25416G>A (p.Leu8472=)
c.25269G>A (p.Leu8423=)
 dbSNP gnomAD v3 gnomAD v4
6g.152140020A>CCA366080189SYNE1c.1922T>G (p.Leu641Trp)
c.25388T>G (p.Leu8463Trp)
c.25244T>G (p.Leu8415Trp)
c.790T>G
c.1123T>G
c.1032T>G
c.1160T>G (p.Leu387Trp)
c.24173T>G (p.Leu8058Trp)
n.2136T>G
c.4223T>G (p.Leu1408Trp)
n.9080T>G
c.3326T>G (p.Leu1109Trp)
n.8972T>G
n.2002T>G
n.4410T>G
n.2225T>G
c.1853T>G (p.Leu618Trp)
c.25493T>G (p.Leu8498Trp)
c.25481T>G (p.Leu8494Trp)
c.25472T>G (p.Leu8491Trp)
c.25442T>G (p.Leu8481Trp)
c.25478T>G (p.Leu8493Trp)
c.25424T>G (p.Leu8475Trp)
c.25421T>G (p.Leu8474Trp)
c.25409T>G (p.Leu8470Trp)
c.25352T>G (p.Leu8451Trp)
c.25340T>G (p.Leu8447Trp)
c.25337T>G (p.Leu8446Trp)
c.25334T>G (p.Leu8445Trp)
c.25490T>G (p.Leu8497Trp)
c.25328T>G (p.Leu8443Trp)
c.23768T>G (p.Leu7923Trp)
c.23261T>G (p.Leu7754Trp)
c.18728T>G (p.Leu6243Trp)
c.1994T>G (p.Leu665Trp)
c.25466T>G (p.Leu8489Trp)
c.25415T>G (p.Leu8472Trp)
c.25268T>G (p.Leu8423Trp)
6g.152140020A>GCA366080190SYNE1c.1922T>C (p.Leu641Ser)
c.25388T>C (p.Leu8463Ser)
c.25244T>C (p.Leu8415Ser)
c.790T>C
c.1123T>C
c.1032T>C
c.1160T>C (p.Leu387Ser)
c.24173T>C (p.Leu8058Ser)
n.2136T>C
c.4223T>C (p.Leu1408Ser)
n.9080T>C
c.3326T>C (p.Leu1109Ser)
n.8972T>C
n.2002T>C
n.4410T>C
n.2225T>C
c.1853T>C (p.Leu618Ser)
c.25493T>C (p.Leu8498Ser)
c.25481T>C (p.Leu8494Ser)
c.25472T>C (p.Leu8491Ser)
c.25442T>C (p.Leu8481Ser)
c.25478T>C (p.Leu8493Ser)
c.25424T>C (p.Leu8475Ser)
c.25421T>C (p.Leu8474Ser)
c.25409T>C (p.Leu8470Ser)
c.25352T>C (p.Leu8451Ser)
c.25340T>C (p.Leu8447Ser)
c.25337T>C (p.Leu8446Ser)
c.25334T>C (p.Leu8445Ser)
c.25490T>C (p.Leu8497Ser)
c.25328T>C (p.Leu8443Ser)
c.23768T>C (p.Leu7923Ser)
c.23261T>C (p.Leu7754Ser)
c.18728T>C (p.Leu6243Ser)
c.1994T>C (p.Leu665Ser)
c.25466T>C (p.Leu8489Ser)
c.25415T>C (p.Leu8472Ser)
c.25268T>C (p.Leu8423Ser)
6g.152140020A>TCA366080192SYNE1c.1922T>A (p.Leu641Ter)
c.25388T>A (p.Leu8463Ter)
c.25244T>A (p.Leu8415Ter)
c.790T>A
c.1123T>A
c.1032T>A
c.1160T>A (p.Leu387Ter)
c.24173T>A (p.Leu8058Ter)
n.2136T>A
c.4223T>A (p.Leu1408Ter)
n.9080T>A
c.3326T>A (p.Leu1109Ter)
n.8972T>A
n.2002T>A
n.4410T>A
n.2225T>A
c.1853T>A (p.Leu618Ter)
c.25493T>A (p.Leu8498Ter)
c.25481T>A (p.Leu8494Ter)
c.25472T>A (p.Leu8491Ter)
c.25442T>A (p.Leu8481Ter)
c.25478T>A (p.Leu8493Ter)
c.25424T>A (p.Leu8475Ter)
c.25421T>A (p.Leu8474Ter)
c.25409T>A (p.Leu8470Ter)
c.25352T>A (p.Leu8451Ter)
c.25340T>A (p.Leu8447Ter)
c.25337T>A (p.Leu8446Ter)
c.25334T>A (p.Leu8445Ter)
c.25490T>A (p.Leu8497Ter)
c.25328T>A (p.Leu8443Ter)
c.23768T>A (p.Leu7923Ter)
c.23261T>A (p.Leu7754Ter)
c.18728T>A (p.Leu6243Ter)
c.1994T>A (p.Leu665Ter)
c.25466T>A (p.Leu8489Ter)
c.25415T>A (p.Leu8472Ter)
c.25268T>A (p.Leu8423Ter)
6g.152140021A=CA1673206240SYNE1c.1921T= (p.Leu641=)
c.25387T= (p.Leu8463=)
c.25243T= (p.Leu8415=)
c.789T=
c.1122T=
c.1031T=
c.1159T= (p.Leu387=)
c.24172T= (p.Leu8058=)
n.2135T=
c.4222T= (p.Leu1408=)
n.9079T=
c.3325T= (p.Leu1109=)
n.8971T=
n.2001T=
n.4409T=
n.2224T=
c.1852T= (p.Leu618=)
c.25492T= (p.Leu8498=)
c.25480T= (p.Leu8494=)
c.25471T= (p.Leu8491=)
c.25441T= (p.Leu8481=)
c.25477T= (p.Leu8493=)
c.25423T= (p.Leu8475=)
c.25420T= (p.Leu8474=)
c.25408T= (p.Leu8470=)
c.25351T= (p.Leu8451=)
c.25339T= (p.Leu8447=)
c.25336T= (p.Leu8446=)
c.25333T= (p.Leu8445=)
c.25489T= (p.Leu8497=)
c.25327T= (p.Leu8443=)
c.23767T= (p.Leu7923=)
c.23260T= (p.Leu7754=)
c.18727T= (p.Leu6243=)
c.1993T= (p.Leu665=)
c.25465T= (p.Leu8489=)
c.25414T= (p.Leu8472=)
c.25267T= (p.Leu8423=)
6g.152140021A>CCA366080194SYNE1c.1921T>G (p.Leu641Val)
c.25387T>G (p.Leu8463Val)
c.25243T>G (p.Leu8415Val)
c.789T>G
c.1122T>G
c.1031T>G
c.1159T>G (p.Leu387Val)
c.24172T>G (p.Leu8058Val)
n.2135T>G
c.4222T>G (p.Leu1408Val)
n.9079T>G
c.3325T>G (p.Leu1109Val)
n.8971T>G
n.2001T>G
n.4409T>G
n.2224T>G
c.1852T>G (p.Leu618Val)
c.25492T>G (p.Leu8498Val)
c.25480T>G (p.Leu8494Val)
c.25471T>G (p.Leu8491Val)
c.25441T>G (p.Leu8481Val)
c.25477T>G (p.Leu8493Val)
c.25423T>G (p.Leu8475Val)
c.25420T>G (p.Leu8474Val)
c.25408T>G (p.Leu8470Val)
c.25351T>G (p.Leu8451Val)
c.25339T>G (p.Leu8447Val)
c.25336T>G (p.Leu8446Val)
c.25333T>G (p.Leu8445Val)
c.25489T>G (p.Leu8497Val)
c.25327T>G (p.Leu8443Val)
c.23767T>G (p.Leu7923Val)
c.23260T>G (p.Leu7754Val)
c.18727T>G (p.Leu6243Val)
c.1993T>G (p.Leu665Val)
c.25465T>G (p.Leu8489Val)
c.25414T>G (p.Leu8472Val)
c.25267T>G (p.Leu8423Val)
6g.152140021A>GCA150165540SYNE1c.1921T>C (p.Leu641=)
c.25387T>C (p.Leu8463=)
c.25243T>C (p.Leu8415=)
c.789T>C
c.1122T>C
c.1031T>C
c.1159T>C (p.Leu387=)
c.24172T>C (p.Leu8058=)
n.2135T>C
c.4222T>C (p.Leu1408=)
n.9079T>C
c.3325T>C (p.Leu1109=)
n.8971T>C
n.2001T>C
n.4409T>C
n.2224T>C
c.1852T>C (p.Leu618=)
c.25492T>C (p.Leu8498=)
c.25480T>C (p.Leu8494=)
c.25471T>C (p.Leu8491=)
c.25441T>C (p.Leu8481=)
c.25477T>C (p.Leu8493=)
c.25423T>C (p.Leu8475=)
c.25420T>C (p.Leu8474=)
c.25408T>C (p.Leu8470=)
c.25351T>C (p.Leu8451=)
c.25339T>C (p.Leu8447=)
c.25336T>C (p.Leu8446=)
c.25333T>C (p.Leu8445=)
c.25489T>C (p.Leu8497=)
c.25327T>C (p.Leu8443=)
c.23767T>C (p.Leu7923=)
c.23260T>C (p.Leu7754=)
c.18727T>C (p.Leu6243=)
c.1993T>C (p.Leu665=)
c.25465T>C (p.Leu8489=)
c.25414T>C (p.Leu8472=)
c.25267T>C (p.Leu8423=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140021A>TCA366080195SYNE1c.1921T>A (p.Leu641Met)
c.25387T>A (p.Leu8463Met)
c.25243T>A (p.Leu8415Met)
c.789T>A
c.1122T>A
c.1031T>A
c.1159T>A (p.Leu387Met)
c.24172T>A (p.Leu8058Met)
n.2135T>A
c.4222T>A (p.Leu1408Met)
n.9079T>A
c.3325T>A (p.Leu1109Met)
n.8971T>A
n.2001T>A
n.4409T>A
n.2224T>A
c.1852T>A (p.Leu618Met)
c.25492T>A (p.Leu8498Met)
c.25480T>A (p.Leu8494Met)
c.25471T>A (p.Leu8491Met)
c.25441T>A (p.Leu8481Met)
c.25477T>A (p.Leu8493Met)
c.25423T>A (p.Leu8475Met)
c.25420T>A (p.Leu8474Met)
c.25408T>A (p.Leu8470Met)
c.25351T>A (p.Leu8451Met)
c.25339T>A (p.Leu8447Met)
c.25336T>A (p.Leu8446Met)
c.25333T>A (p.Leu8445Met)
c.25489T>A (p.Leu8497Met)
c.25327T>A (p.Leu8443Met)
c.23767T>A (p.Leu7923Met)
c.23260T>A (p.Leu7754Met)
c.18727T>A (p.Leu6243Met)
c.1993T>A (p.Leu665Met)
c.25465T>A (p.Leu8489Met)
c.25414T>A (p.Leu8472Met)
c.25267T>A (p.Leu8423Met)
6g.152140022C>ACA366080197SYNE1c.1920G>T (p.Glu640Asp)
c.25386G>T (p.Glu8462Asp)
c.25242G>T (p.Glu8414Asp)
c.788G>T
c.1121G>T
c.1030G>T
c.1158G>T (p.Glu386Asp)
c.24171G>T (p.Glu8057Asp)
n.2134G>T
c.4221G>T (p.Glu1407Asp)
n.9078G>T
c.3324G>T (p.Glu1108Asp)
n.8970G>T
n.2000G>T
n.4408G>T
n.2223G>T
c.1851G>T (p.Glu617Asp)
c.25491G>T (p.Glu8497Asp)
c.25479G>T (p.Glu8493Asp)
c.25470G>T (p.Glu8490Asp)
c.25440G>T (p.Glu8480Asp)
c.25476G>T (p.Glu8492Asp)
c.25422G>T (p.Glu8474Asp)
c.25419G>T (p.Glu8473Asp)
c.25407G>T (p.Glu8469Asp)
c.25350G>T (p.Glu8450Asp)
c.25338G>T (p.Glu8446Asp)
c.25335G>T (p.Glu8445Asp)
c.25332G>T (p.Glu8444Asp)
c.25488G>T (p.Glu8496Asp)
c.25326G>T (p.Glu8442Asp)
c.23766G>T (p.Glu7922Asp)
c.23259G>T (p.Glu7753Asp)
c.18726G>T (p.Glu6242Asp)
c.1992G>T (p.Glu664Asp)
c.25464G>T (p.Glu8488Asp)
c.25413G>T (p.Glu8471Asp)
c.25266G>T (p.Glu8422Asp)
6g.152140022C=CA1673206244SYNE1c.1920G= (p.Glu640=)
c.25386G= (p.Glu8462=)
c.25242G= (p.Glu8414=)
c.788G=
c.1121G=
c.1030G=
c.1158G= (p.Glu386=)
c.24171G= (p.Glu8057=)
n.2134G=
c.4221G= (p.Glu1407=)
n.9078G=
c.3324G= (p.Glu1108=)
n.8970G=
n.2000G=
n.4408G=
n.2223G=
c.1851G= (p.Glu617=)
c.25491G= (p.Glu8497=)
c.25479G= (p.Glu8493=)
c.25470G= (p.Glu8490=)
c.25440G= (p.Glu8480=)
c.25476G= (p.Glu8492=)
c.25422G= (p.Glu8474=)
c.25419G= (p.Glu8473=)
c.25407G= (p.Glu8469=)
c.25350G= (p.Glu8450=)
c.25338G= (p.Glu8446=)
c.25335G= (p.Glu8445=)
c.25332G= (p.Glu8444=)
c.25488G= (p.Glu8496=)
c.25326G= (p.Glu8442=)
c.23766G= (p.Glu7922=)
c.23259G= (p.Glu7753=)
c.18726G= (p.Glu6242=)
c.1992G= (p.Glu664=)
c.25464G= (p.Glu8488=)
c.25413G= (p.Glu8471=)
c.25266G= (p.Glu8422=)
6g.152140022C>GCA366080199SYNE1c.1920G>C (p.Glu640Asp)
c.25386G>C (p.Glu8462Asp)
c.25242G>C (p.Glu8414Asp)
c.788G>C
c.1121G>C
c.1030G>C
c.1158G>C (p.Glu386Asp)
c.24171G>C (p.Glu8057Asp)
n.2134G>C
c.4221G>C (p.Glu1407Asp)
n.9078G>C
c.3324G>C (p.Glu1108Asp)
n.8970G>C
n.2000G>C
n.4408G>C
n.2223G>C
c.1851G>C (p.Glu617Asp)
c.25491G>C (p.Glu8497Asp)
c.25479G>C (p.Glu8493Asp)
c.25470G>C (p.Glu8490Asp)
c.25440G>C (p.Glu8480Asp)
c.25476G>C (p.Glu8492Asp)
c.25422G>C (p.Glu8474Asp)
c.25419G>C (p.Glu8473Asp)
c.25407G>C (p.Glu8469Asp)
c.25350G>C (p.Glu8450Asp)
c.25338G>C (p.Glu8446Asp)
c.25335G>C (p.Glu8445Asp)
c.25332G>C (p.Glu8444Asp)
c.25488G>C (p.Glu8496Asp)
c.25326G>C (p.Glu8442Asp)
c.23766G>C (p.Glu7922Asp)
c.23259G>C (p.Glu7753Asp)
c.18726G>C (p.Glu6242Asp)
c.1992G>C (p.Glu664Asp)
c.25464G>C (p.Glu8488Asp)
c.25413G>C (p.Glu8471Asp)
c.25266G>C (p.Glu8422Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140022C>TCA452969858SYNE1c.1920G>A (p.Glu640=)
c.25386G>A (p.Glu8462=)
c.25242G>A (p.Glu8414=)
c.788G>A
c.1121G>A
c.1030G>A
c.1158G>A (p.Glu386=)
c.24171G>A (p.Glu8057=)
n.2134G>A
c.4221G>A (p.Glu1407=)
n.9078G>A
c.3324G>A (p.Glu1108=)
n.8970G>A
n.2000G>A
n.4408G>A
n.2223G>A
c.1851G>A (p.Glu617=)
c.25491G>A (p.Glu8497=)
c.25479G>A (p.Glu8493=)
c.25470G>A (p.Glu8490=)
c.25440G>A (p.Glu8480=)
c.25476G>A (p.Glu8492=)
c.25422G>A (p.Glu8474=)
c.25419G>A (p.Glu8473=)
c.25407G>A (p.Glu8469=)
c.25350G>A (p.Glu8450=)
c.25338G>A (p.Glu8446=)
c.25335G>A (p.Glu8445=)
c.25332G>A (p.Glu8444=)
c.25488G>A (p.Glu8496=)
c.25326G>A (p.Glu8442=)
c.23766G>A (p.Glu7922=)
c.23259G>A (p.Glu7753=)
c.18726G>A (p.Glu6242=)
c.1992G>A (p.Glu664=)
c.25464G>A (p.Glu8488=)
c.25413G>A (p.Glu8471=)
c.25266G>A (p.Glu8422=)
 gnomAD v4
6g.152140023T>ACA366080200SYNE1c.1919A>T (p.Glu640Val)
c.25385A>T (p.Glu8462Val)
c.25241A>T (p.Glu8414Val)
c.787A>T
c.1120A>T
c.1029A>T
c.1157A>T (p.Glu386Val)
c.24170A>T (p.Glu8057Val)
n.2133A>T
c.4220A>T (p.Glu1407Val)
n.9077A>T
c.3323A>T (p.Glu1108Val)
n.8969A>T
n.1999A>T
n.4407A>T
n.2222A>T
c.1850A>T (p.Glu617Val)
c.25490A>T (p.Glu8497Val)
c.25478A>T (p.Glu8493Val)
c.25469A>T (p.Glu8490Val)
c.25439A>T (p.Glu8480Val)
c.25475A>T (p.Glu8492Val)
c.25421A>T (p.Glu8474Val)
c.25418A>T (p.Glu8473Val)
c.25406A>T (p.Glu8469Val)
c.25349A>T (p.Glu8450Val)
c.25337A>T (p.Glu8446Val)
c.25334A>T (p.Glu8445Val)
c.25331A>T (p.Glu8444Val)
c.25487A>T (p.Glu8496Val)
c.25325A>T (p.Glu8442Val)
c.23765A>T (p.Glu7922Val)
c.23258A>T (p.Glu7753Val)
c.18725A>T (p.Glu6242Val)
c.1991A>T (p.Glu664Val)
c.25463A>T (p.Glu8488Val)
c.25412A>T (p.Glu8471Val)
c.25265A>T (p.Glu8422Val)
 dbSNP gnomAD v2 gnomAD v4
6g.152140023T>CCA366080202SYNE1c.1919A>G (p.Glu640Gly)
c.25385A>G (p.Glu8462Gly)
c.25241A>G (p.Glu8414Gly)
c.787A>G
c.1120A>G
c.1029A>G
c.1157A>G (p.Glu386Gly)
c.24170A>G (p.Glu8057Gly)
n.2133A>G
c.4220A>G (p.Glu1407Gly)
n.9077A>G
c.3323A>G (p.Glu1108Gly)
n.8969A>G
n.1999A>G
n.4407A>G
n.2222A>G
c.1850A>G (p.Glu617Gly)
c.25490A>G (p.Glu8497Gly)
c.25478A>G (p.Glu8493Gly)
c.25469A>G (p.Glu8490Gly)
c.25439A>G (p.Glu8480Gly)
c.25475A>G (p.Glu8492Gly)
c.25421A>G (p.Glu8474Gly)
c.25418A>G (p.Glu8473Gly)
c.25406A>G (p.Glu8469Gly)
c.25349A>G (p.Glu8450Gly)
c.25337A>G (p.Glu8446Gly)
c.25334A>G (p.Glu8445Gly)
c.25331A>G (p.Glu8444Gly)
c.25487A>G (p.Glu8496Gly)
c.25325A>G (p.Glu8442Gly)
c.23765A>G (p.Glu7922Gly)
c.23258A>G (p.Glu7753Gly)
c.18725A>G (p.Glu6242Gly)
c.1991A>G (p.Glu664Gly)
c.25463A>G (p.Glu8488Gly)
c.25412A>G (p.Glu8471Gly)
c.25265A>G (p.Glu8422Gly)
6g.152140023T>GCA366080203SYNE1c.1919A>C (p.Glu640Ala)
c.25385A>C (p.Glu8462Ala)
c.25241A>C (p.Glu8414Ala)
c.787A>C
c.1120A>C
c.1029A>C
c.1157A>C (p.Glu386Ala)
c.24170A>C (p.Glu8057Ala)
n.2133A>C
c.4220A>C (p.Glu1407Ala)
n.9077A>C
c.3323A>C (p.Glu1108Ala)
n.8969A>C
n.1999A>C
n.4407A>C
n.2222A>C
c.1850A>C (p.Glu617Ala)
c.25490A>C (p.Glu8497Ala)
c.25478A>C (p.Glu8493Ala)
c.25469A>C (p.Glu8490Ala)
c.25439A>C (p.Glu8480Ala)
c.25475A>C (p.Glu8492Ala)
c.25421A>C (p.Glu8474Ala)
c.25418A>C (p.Glu8473Ala)
c.25406A>C (p.Glu8469Ala)
c.25349A>C (p.Glu8450Ala)
c.25337A>C (p.Glu8446Ala)
c.25334A>C (p.Glu8445Ala)
c.25331A>C (p.Glu8444Ala)
c.25487A>C (p.Glu8496Ala)
c.25325A>C (p.Glu8442Ala)
c.23765A>C (p.Glu7922Ala)
c.23258A>C (p.Glu7753Ala)
c.18725A>C (p.Glu6242Ala)
c.1991A>C (p.Glu664Ala)
c.25463A>C (p.Glu8488Ala)
c.25412A>C (p.Glu8471Ala)
c.25265A>C (p.Glu8422Ala)
6g.152140023T=CA1673206249SYNE1c.1919A= (p.Glu640=)
c.25385A= (p.Glu8462=)
c.25241A= (p.Glu8414=)
c.787A=
c.1120A=
c.1029A=
c.1157A= (p.Glu386=)
c.24170A= (p.Glu8057=)
n.2133A=
c.4220A= (p.Glu1407=)
n.9077A=
c.3323A= (p.Glu1108=)
n.8969A=
n.1999A=
n.4407A=
n.2222A=
c.1850A= (p.Glu617=)
c.25490A= (p.Glu8497=)
c.25478A= (p.Glu8493=)
c.25469A= (p.Glu8490=)
c.25439A= (p.Glu8480=)
c.25475A= (p.Glu8492=)
c.25421A= (p.Glu8474=)
c.25418A= (p.Glu8473=)
c.25406A= (p.Glu8469=)
c.25349A= (p.Glu8450=)
c.25337A= (p.Glu8446=)
c.25334A= (p.Glu8445=)
c.25331A= (p.Glu8444=)
c.25487A= (p.Glu8496=)
c.25325A= (p.Glu8442=)
c.23765A= (p.Glu7922=)
c.23258A= (p.Glu7753=)
c.18725A= (p.Glu6242=)
c.1991A= (p.Glu664=)
c.25463A= (p.Glu8488=)
c.25412A= (p.Glu8471=)
c.25265A= (p.Glu8422=)
6g.152140024C>ACA366080207SYNE1c.1918G>T (p.Glu640Ter)
c.25384G>T (p.Glu8462Ter)
c.25240G>T (p.Glu8414Ter)
c.786G>T
c.1119G>T
c.1028G>T
c.1156G>T (p.Glu386Ter)
c.24169G>T (p.Glu8057Ter)
n.2132G>T
c.4219G>T (p.Glu1407Ter)
n.9076G>T
c.3322G>T (p.Glu1108Ter)
n.8968G>T
n.1998G>T
n.4406G>T
n.2221G>T
c.1849G>T (p.Glu617Ter)
c.25489G>T (p.Glu8497Ter)
c.25477G>T (p.Glu8493Ter)
c.25468G>T (p.Glu8490Ter)
c.25438G>T (p.Glu8480Ter)
c.25474G>T (p.Glu8492Ter)
c.25420G>T (p.Glu8474Ter)
c.25417G>T (p.Glu8473Ter)
c.25405G>T (p.Glu8469Ter)
c.25348G>T (p.Glu8450Ter)
c.25336G>T (p.Glu8446Ter)
c.25333G>T (p.Glu8445Ter)
c.25330G>T (p.Glu8444Ter)
c.25486G>T (p.Glu8496Ter)
c.25324G>T (p.Glu8442Ter)
c.23764G>T (p.Glu7922Ter)
c.23257G>T (p.Glu7753Ter)
c.18724G>T (p.Glu6242Ter)
c.1990G>T (p.Glu664Ter)
c.25462G>T (p.Glu8488Ter)
c.25411G>T (p.Glu8471Ter)
c.25264G>T (p.Glu8422Ter)
6g.152140024C=CA1673206252SYNE1c.1918G= (p.Glu640=)
c.25384G= (p.Glu8462=)
c.25240G= (p.Glu8414=)
c.786G=
c.1119G=
c.1028G=
c.1156G= (p.Glu386=)
c.24169G= (p.Glu8057=)
n.2132G=
c.4219G= (p.Glu1407=)
n.9076G=
c.3322G= (p.Glu1108=)
n.8968G=
n.1998G=
n.4406G=
n.2221G=
c.1849G= (p.Glu617=)
c.25489G= (p.Glu8497=)
c.25477G= (p.Glu8493=)
c.25468G= (p.Glu8490=)
c.25438G= (p.Glu8480=)
c.25474G= (p.Glu8492=)
c.25420G= (p.Glu8474=)
c.25417G= (p.Glu8473=)
c.25405G= (p.Glu8469=)
c.25348G= (p.Glu8450=)
c.25336G= (p.Glu8446=)
c.25333G= (p.Glu8445=)
c.25330G= (p.Glu8444=)
c.25486G= (p.Glu8496=)
c.25324G= (p.Glu8442=)
c.23764G= (p.Glu7922=)
c.23257G= (p.Glu7753=)
c.18724G= (p.Glu6242=)
c.1990G= (p.Glu664=)
c.25462G= (p.Glu8488=)
c.25411G= (p.Glu8471=)
c.25264G= (p.Glu8422=)
6g.152140024C>GCA366080206SYNE1c.1918G>C (p.Glu640Gln)
c.25384G>C (p.Glu8462Gln)
c.25240G>C (p.Glu8414Gln)
c.786G>C
c.1119G>C
c.1028G>C
c.1156G>C (p.Glu386Gln)
c.24169G>C (p.Glu8057Gln)
n.2132G>C
c.4219G>C (p.Glu1407Gln)
n.9076G>C
c.3322G>C (p.Glu1108Gln)
n.8968G>C
n.1998G>C
n.4406G>C
n.2221G>C
c.1849G>C (p.Glu617Gln)
c.25489G>C (p.Glu8497Gln)
c.25477G>C (p.Glu8493Gln)
c.25468G>C (p.Glu8490Gln)
c.25438G>C (p.Glu8480Gln)
c.25474G>C (p.Glu8492Gln)
c.25420G>C (p.Glu8474Gln)
c.25417G>C (p.Glu8473Gln)
c.25405G>C (p.Glu8469Gln)
c.25348G>C (p.Glu8450Gln)
c.25336G>C (p.Glu8446Gln)
c.25333G>C (p.Glu8445Gln)
c.25330G>C (p.Glu8444Gln)
c.25486G>C (p.Glu8496Gln)
c.25324G>C (p.Glu8442Gln)
c.23764G>C (p.Glu7922Gln)
c.23257G>C (p.Glu7753Gln)
c.18724G>C (p.Glu6242Gln)
c.1990G>C (p.Glu664Gln)
c.25462G>C (p.Glu8488Gln)
c.25411G>C (p.Glu8471Gln)
c.25264G>C (p.Glu8422Gln)
6g.152140024C>TCA4052854SYNE1c.1918G>A (p.Glu640Lys)
c.25384G>A (p.Glu8462Lys)
c.25240G>A (p.Glu8414Lys)
c.786G>A
c.1119G>A
c.1028G>A
c.1156G>A (p.Glu386Lys)
c.24169G>A (p.Glu8057Lys)
n.2132G>A
c.4219G>A (p.Glu1407Lys)
n.9076G>A
c.3322G>A (p.Glu1108Lys)
n.8968G>A
n.1998G>A
n.4406G>A
n.2221G>A
c.1849G>A (p.Glu617Lys)
c.25489G>A (p.Glu8497Lys)
c.25477G>A (p.Glu8493Lys)
c.25468G>A (p.Glu8490Lys)
c.25438G>A (p.Glu8480Lys)
c.25474G>A (p.Glu8492Lys)
c.25420G>A (p.Glu8474Lys)
c.25417G>A (p.Glu8473Lys)
c.25405G>A (p.Glu8469Lys)
c.25348G>A (p.Glu8450Lys)
c.25336G>A (p.Glu8446Lys)
c.25333G>A (p.Glu8445Lys)
c.25330G>A (p.Glu8444Lys)
c.25486G>A (p.Glu8496Lys)
c.25324G>A (p.Glu8442Lys)
c.23764G>A (p.Glu7922Lys)
c.23257G>A (p.Glu7753Lys)
c.18724G>A (p.Glu6242Lys)
c.1990G>A (p.Glu664Lys)
c.25462G>A (p.Glu8488Lys)
c.25411G>A (p.Glu8471Lys)
c.25264G>A (p.Glu8422Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140025C>ACA366080209SYNE1c.1917G>T (p.Glu639Asp)
c.25383G>T (p.Glu8461Asp)
c.25239G>T (p.Glu8413Asp)
c.785G>T
c.1118G>T
c.1027G>T
c.1155G>T (p.Glu385Asp)
c.24168G>T (p.Glu8056Asp)
n.2131G>T
c.4218G>T (p.Glu1406Asp)
n.9075G>T
c.3321G>T (p.Glu1107Asp)
n.8967G>T
n.1997G>T
n.4405G>T
n.2220G>T
c.1848G>T (p.Glu616Asp)
c.25488G>T (p.Glu8496Asp)
c.25476G>T (p.Glu8492Asp)
c.25467G>T (p.Glu8489Asp)
c.25437G>T (p.Glu8479Asp)
c.25473G>T (p.Glu8491Asp)
c.25419G>T (p.Glu8473Asp)
c.25416G>T (p.Glu8472Asp)
c.25404G>T (p.Glu8468Asp)
c.25347G>T (p.Glu8449Asp)
c.25335G>T (p.Glu8445Asp)
c.25332G>T (p.Glu8444Asp)
c.25329G>T (p.Glu8443Asp)
c.25485G>T (p.Glu8495Asp)
c.25323G>T (p.Glu8441Asp)
c.23763G>T (p.Glu7921Asp)
c.23256G>T (p.Glu7752Asp)
c.18723G>T (p.Glu6241Asp)
c.1989G>T (p.Glu663Asp)
c.25461G>T (p.Glu8487Asp)
c.25410G>T (p.Glu8470Asp)
c.25263G>T (p.Glu8421Asp)
6g.152140025C>GCA366080210SYNE1c.1917G>C (p.Glu639Asp)
c.25383G>C (p.Glu8461Asp)
c.25239G>C (p.Glu8413Asp)
c.785G>C
c.1118G>C
c.1027G>C
c.1155G>C (p.Glu385Asp)
c.24168G>C (p.Glu8056Asp)
n.2131G>C
c.4218G>C (p.Glu1406Asp)
n.9075G>C
c.3321G>C (p.Glu1107Asp)
n.8967G>C
n.1997G>C
n.4405G>C
n.2220G>C
c.1848G>C (p.Glu616Asp)
c.25488G>C (p.Glu8496Asp)
c.25476G>C (p.Glu8492Asp)
c.25467G>C (p.Glu8489Asp)
c.25437G>C (p.Glu8479Asp)
c.25473G>C (p.Glu8491Asp)
c.25419G>C (p.Glu8473Asp)
c.25416G>C (p.Glu8472Asp)
c.25404G>C (p.Glu8468Asp)
c.25347G>C (p.Glu8449Asp)
c.25335G>C (p.Glu8445Asp)
c.25332G>C (p.Glu8444Asp)
c.25329G>C (p.Glu8443Asp)
c.25485G>C (p.Glu8495Asp)
c.25323G>C (p.Glu8441Asp)
c.23763G>C (p.Glu7921Asp)
c.23256G>C (p.Glu7752Asp)
c.18723G>C (p.Glu6241Asp)
c.1989G>C (p.Glu663Asp)
c.25461G>C (p.Glu8487Asp)
c.25410G>C (p.Glu8470Asp)
c.25263G>C (p.Glu8421Asp)
6g.152140025C>TCA452969859SYNE1c.1917G>A (p.Glu639=)
c.25383G>A (p.Glu8461=)
c.25239G>A (p.Glu8413=)
c.785G>A
c.1118G>A
c.1027G>A
c.1155G>A (p.Glu385=)
c.24168G>A (p.Glu8056=)
n.2131G>A
c.4218G>A (p.Glu1406=)
n.9075G>A
c.3321G>A (p.Glu1107=)
n.8967G>A
n.1997G>A
n.4405G>A
n.2220G>A
c.1848G>A (p.Glu616=)
c.25488G>A (p.Glu8496=)
c.25476G>A (p.Glu8492=)
c.25467G>A (p.Glu8489=)
c.25437G>A (p.Glu8479=)
c.25473G>A (p.Glu8491=)
c.25419G>A (p.Glu8473=)
c.25416G>A (p.Glu8472=)
c.25404G>A (p.Glu8468=)
c.25347G>A (p.Glu8449=)
c.25335G>A (p.Glu8445=)
c.25332G>A (p.Glu8444=)
c.25329G>A (p.Glu8443=)
c.25485G>A (p.Glu8495=)
c.25323G>A (p.Glu8441=)
c.23763G>A (p.Glu7921=)
c.23256G>A (p.Glu7752=)
c.18723G>A (p.Glu6241=)
c.1989G>A (p.Glu663=)
c.25461G>A (p.Glu8487=)
c.25410G>A (p.Glu8470=)
c.25263G>A (p.Glu8421=)
 ClinVar dbSNP
6g.152140026T>ACA366080212SYNE1c.1916A>T (p.Glu639Val)
c.25382A>T (p.Glu8461Val)
c.25238A>T (p.Glu8413Val)
c.784A>T
c.1117A>T
c.1026A>T
c.1154A>T (p.Glu385Val)
c.24167A>T (p.Glu8056Val)
n.2130A>T
c.4217A>T (p.Glu1406Val)
n.9074A>T
c.3320A>T (p.Glu1107Val)
n.8966A>T
n.1996A>T
n.4404A>T
n.2219A>T
c.1847A>T (p.Glu616Val)
c.25487A>T (p.Glu8496Val)
c.25475A>T (p.Glu8492Val)
c.25466A>T (p.Glu8489Val)
c.25436A>T (p.Glu8479Val)
c.25472A>T (p.Glu8491Val)
c.25418A>T (p.Glu8473Val)
c.25415A>T (p.Glu8472Val)
c.25403A>T (p.Glu8468Val)
c.25346A>T (p.Glu8449Val)
c.25334A>T (p.Glu8445Val)
c.25331A>T (p.Glu8444Val)
c.25328A>T (p.Glu8443Val)
c.25484A>T (p.Glu8495Val)
c.25322A>T (p.Glu8441Val)
c.23762A>T (p.Glu7921Val)
c.23255A>T (p.Glu7752Val)
c.18722A>T (p.Glu6241Val)
c.1988A>T (p.Glu663Val)
c.25460A>T (p.Glu8487Val)
c.25409A>T (p.Glu8470Val)
c.25262A>T (p.Glu8421Val)
6g.152140026T>CCA366080214SYNE1c.1916A>G (p.Glu639Gly)
c.25382A>G (p.Glu8461Gly)
c.25238A>G (p.Glu8413Gly)
c.784A>G
c.1117A>G
c.1026A>G
c.1154A>G (p.Glu385Gly)
c.24167A>G (p.Glu8056Gly)
n.2130A>G
c.4217A>G (p.Glu1406Gly)
n.9074A>G
c.3320A>G (p.Glu1107Gly)
n.8966A>G
n.1996A>G
n.4404A>G
n.2219A>G
c.1847A>G (p.Glu616Gly)
c.25487A>G (p.Glu8496Gly)
c.25475A>G (p.Glu8492Gly)
c.25466A>G (p.Glu8489Gly)
c.25436A>G (p.Glu8479Gly)
c.25472A>G (p.Glu8491Gly)
c.25418A>G (p.Glu8473Gly)
c.25415A>G (p.Glu8472Gly)
c.25403A>G (p.Glu8468Gly)
c.25346A>G (p.Glu8449Gly)
c.25334A>G (p.Glu8445Gly)
c.25331A>G (p.Glu8444Gly)
c.25328A>G (p.Glu8443Gly)
c.25484A>G (p.Glu8495Gly)
c.25322A>G (p.Glu8441Gly)
c.23762A>G (p.Glu7921Gly)
c.23255A>G (p.Glu7752Gly)
c.18722A>G (p.Glu6241Gly)
c.1988A>G (p.Glu663Gly)
c.25460A>G (p.Glu8487Gly)
c.25409A>G (p.Glu8470Gly)
c.25262A>G (p.Glu8421Gly)
 dbSNP
6g.152140026T>GCA366080215SYNE1c.1916A>C (p.Glu639Ala)
c.25382A>C (p.Glu8461Ala)
c.25238A>C (p.Glu8413Ala)
c.784A>C
c.1117A>C
c.1026A>C
c.1154A>C (p.Glu385Ala)
c.24167A>C (p.Glu8056Ala)
n.2130A>C
c.4217A>C (p.Glu1406Ala)
n.9074A>C
c.3320A>C (p.Glu1107Ala)
n.8966A>C
n.1996A>C
n.4404A>C
n.2219A>C
c.1847A>C (p.Glu616Ala)
c.25487A>C (p.Glu8496Ala)
c.25475A>C (p.Glu8492Ala)
c.25466A>C (p.Glu8489Ala)
c.25436A>C (p.Glu8479Ala)
c.25472A>C (p.Glu8491Ala)
c.25418A>C (p.Glu8473Ala)
c.25415A>C (p.Glu8472Ala)
c.25403A>C (p.Glu8468Ala)
c.25346A>C (p.Glu8449Ala)
c.25334A>C (p.Glu8445Ala)
c.25331A>C (p.Glu8444Ala)
c.25328A>C (p.Glu8443Ala)
c.25484A>C (p.Glu8495Ala)
c.25322A>C (p.Glu8441Ala)
c.23762A>C (p.Glu7921Ala)
c.23255A>C (p.Glu7752Ala)
c.18722A>C (p.Glu6241Ala)
c.1988A>C (p.Glu663Ala)
c.25460A>C (p.Glu8487Ala)
c.25409A>C (p.Glu8470Ala)
c.25262A>C (p.Glu8421Ala)
6g.152140026T=CA1673206256SYNE1c.1916A= (p.Glu639=)
c.25382A= (p.Glu8461=)
c.25238A= (p.Glu8413=)
c.784A=
c.1117A=
c.1026A=
c.1154A= (p.Glu385=)
c.24167A= (p.Glu8056=)
n.2130A=
c.4217A= (p.Glu1406=)
n.9074A=
c.3320A= (p.Glu1107=)
n.8966A=
n.1996A=
n.4404A=
n.2219A=
c.1847A= (p.Glu616=)
c.25487A= (p.Glu8496=)
c.25475A= (p.Glu8492=)
c.25466A= (p.Glu8489=)
c.25436A= (p.Glu8479=)
c.25472A= (p.Glu8491=)
c.25418A= (p.Glu8473=)
c.25415A= (p.Glu8472=)
c.25403A= (p.Glu8468=)
c.25346A= (p.Glu8449=)
c.25334A= (p.Glu8445=)
c.25331A= (p.Glu8444=)
c.25328A= (p.Glu8443=)
c.25484A= (p.Glu8495=)
c.25322A= (p.Glu8441=)
c.23762A= (p.Glu7921=)
c.23255A= (p.Glu7752=)
c.18722A= (p.Glu6241=)
c.1988A= (p.Glu663=)
c.25460A= (p.Glu8487=)
c.25409A= (p.Glu8470=)
c.25262A= (p.Glu8421=)
6g.152140027C>ACA366080217SYNE1c.1915G>T (p.Glu639Ter)
c.25381G>T (p.Glu8461Ter)
c.25237G>T (p.Glu8413Ter)
c.783G>T
c.1116G>T
c.1025G>T
c.1153G>T (p.Glu385Ter)
c.24166G>T (p.Glu8056Ter)
n.2129G>T
c.4216G>T (p.Glu1406Ter)
n.9073G>T
c.3319G>T (p.Glu1107Ter)
n.8965G>T
n.1995G>T
n.4403G>T
n.2218G>T
c.1846G>T (p.Glu616Ter)
c.25486G>T (p.Glu8496Ter)
c.25474G>T (p.Glu8492Ter)
c.25465G>T (p.Glu8489Ter)
c.25435G>T (p.Glu8479Ter)
c.25471G>T (p.Glu8491Ter)
c.25417G>T (p.Glu8473Ter)
c.25414G>T (p.Glu8472Ter)
c.25402G>T (p.Glu8468Ter)
c.25345G>T (p.Glu8449Ter)
c.25333G>T (p.Glu8445Ter)
c.25330G>T (p.Glu8444Ter)
c.25327G>T (p.Glu8443Ter)
c.25483G>T (p.Glu8495Ter)
c.25321G>T (p.Glu8441Ter)
c.23761G>T (p.Glu7921Ter)
c.23254G>T (p.Glu7752Ter)
c.18721G>T (p.Glu6241Ter)
c.1987G>T (p.Glu663Ter)
c.25459G>T (p.Glu8487Ter)
c.25408G>T (p.Glu8470Ter)
c.25261G>T (p.Glu8421Ter)
6g.152140027C=CA1673206260SYNE1c.1915G= (p.Glu639=)
c.25381G= (p.Glu8461=)
c.25237G= (p.Glu8413=)
c.783G=
c.1116G=
c.1025G=
c.1153G= (p.Glu385=)
c.24166G= (p.Glu8056=)
n.2129G=
c.4216G= (p.Glu1406=)
n.9073G=
c.3319G= (p.Glu1107=)
n.8965G=
n.1995G=
n.4403G=
n.2218G=
c.1846G= (p.Glu616=)
c.25486G= (p.Glu8496=)
c.25474G= (p.Glu8492=)
c.25465G= (p.Glu8489=)
c.25435G= (p.Glu8479=)
c.25471G= (p.Glu8491=)
c.25417G= (p.Glu8473=)
c.25414G= (p.Glu8472=)
c.25402G= (p.Glu8468=)
c.25345G= (p.Glu8449=)
c.25333G= (p.Glu8445=)
c.25330G= (p.Glu8444=)
c.25327G= (p.Glu8443=)
c.25483G= (p.Glu8495=)
c.25321G= (p.Glu8441=)
c.23761G= (p.Glu7921=)
c.23254G= (p.Glu7752=)
c.18721G= (p.Glu6241=)
c.1987G= (p.Glu663=)
c.25459G= (p.Glu8487=)
c.25408G= (p.Glu8470=)
c.25261G= (p.Glu8421=)
6g.152140027C>GCA366080219SYNE1c.1915G>C (p.Glu639Gln)
c.25381G>C (p.Glu8461Gln)
c.25237G>C (p.Glu8413Gln)
c.783G>C
c.1116G>C
c.1025G>C
c.1153G>C (p.Glu385Gln)
c.24166G>C (p.Glu8056Gln)
n.2129G>C
c.4216G>C (p.Glu1406Gln)
n.9073G>C
c.3319G>C (p.Glu1107Gln)
n.8965G>C
n.1995G>C
n.4403G>C
n.2218G>C
c.1846G>C (p.Glu616Gln)
c.25486G>C (p.Glu8496Gln)
c.25474G>C (p.Glu8492Gln)
c.25465G>C (p.Glu8489Gln)
c.25435G>C (p.Glu8479Gln)
c.25471G>C (p.Glu8491Gln)
c.25417G>C (p.Glu8473Gln)
c.25414G>C (p.Glu8472Gln)
c.25402G>C (p.Glu8468Gln)
c.25345G>C (p.Glu8449Gln)
c.25333G>C (p.Glu8445Gln)
c.25330G>C (p.Glu8444Gln)
c.25327G>C (p.Glu8443Gln)
c.25483G>C (p.Glu8495Gln)
c.25321G>C (p.Glu8441Gln)
c.23761G>C (p.Glu7921Gln)
c.23254G>C (p.Glu7752Gln)
c.18721G>C (p.Glu6241Gln)
c.1987G>C (p.Glu663Gln)
c.25459G>C (p.Glu8487Gln)
c.25408G>C (p.Glu8470Gln)
c.25261G>C (p.Glu8421Gln)
6g.152140027C>TCA115488SYNE1c.1915G>A (p.Glu639Lys)
c.25381G>A (p.Glu8461Lys)
c.25237G>A (p.Glu8413Lys)
c.783G>A
c.1116G>A
c.1025G>A
c.1153G>A (p.Glu385Lys)
c.24166G>A (p.Glu8056Lys)
n.2129G>A
c.4216G>A (p.Glu1406Lys)
n.9073G>A
c.3319G>A (p.Glu1107Lys)
n.8965G>A
n.1995G>A
n.4403G>A
n.2218G>A
c.1846G>A (p.Glu616Lys)
c.25486G>A (p.Glu8496Lys)
c.25474G>A (p.Glu8492Lys)
c.25465G>A (p.Glu8489Lys)
c.25435G>A (p.Glu8479Lys)
c.25471G>A (p.Glu8491Lys)
c.25417G>A (p.Glu8473Lys)
c.25414G>A (p.Glu8472Lys)
c.25402G>A (p.Glu8468Lys)
c.25345G>A (p.Glu8449Lys)
c.25333G>A (p.Glu8445Lys)
c.25330G>A (p.Glu8444Lys)
c.25327G>A (p.Glu8443Lys)
c.25483G>A (p.Glu8495Lys)
c.25321G>A (p.Glu8441Lys)
c.23761G>A (p.Glu7921Lys)
c.23254G>A (p.Glu7752Lys)
c.18721G>A (p.Glu6241Lys)
c.1987G>A (p.Glu663Lys)
c.25459G>A (p.Glu8487Lys)
c.25408G>A (p.Glu8470Lys)
c.25261G>A (p.Glu8421Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140028C>ACA366080221SYNE1c.1914G>T (p.Glu638Asp)
c.25380G>T (p.Glu8460Asp)
c.25236G>T (p.Glu8412Asp)
c.782G>T
c.1115G>T
c.1024G>T
c.1152G>T (p.Glu384Asp)
c.24165G>T (p.Glu8055Asp)
n.2128G>T
c.4215G>T (p.Glu1405Asp)
n.9072G>T
c.3318G>T (p.Glu1106Asp)
n.8964G>T
n.1994G>T
n.4402G>T
n.2217G>T
c.1845G>T (p.Glu615Asp)
c.25485G>T (p.Glu8495Asp)
c.25473G>T (p.Glu8491Asp)
c.25464G>T (p.Glu8488Asp)
c.25434G>T (p.Glu8478Asp)
c.25470G>T (p.Glu8490Asp)
c.25416G>T (p.Glu8472Asp)
c.25413G>T (p.Glu8471Asp)
c.25401G>T (p.Glu8467Asp)
c.25344G>T (p.Glu8448Asp)
c.25332G>T (p.Glu8444Asp)
c.25329G>T (p.Glu8443Asp)
c.25326G>T (p.Glu8442Asp)
c.25482G>T (p.Glu8494Asp)
c.25320G>T (p.Glu8440Asp)
c.23760G>T (p.Glu7920Asp)
c.23253G>T (p.Glu7751Asp)
c.18720G>T (p.Glu6240Asp)
c.1986G>T (p.Glu662Asp)
c.25458G>T (p.Glu8486Asp)
c.25407G>T (p.Glu8469Asp)
c.25260G>T (p.Glu8420Asp)
6g.152140028C>GCA366080222SYNE1c.1914G>C (p.Glu638Asp)
c.25380G>C (p.Glu8460Asp)
c.25236G>C (p.Glu8412Asp)
c.782G>C
c.1115G>C
c.1024G>C
c.1152G>C (p.Glu384Asp)
c.24165G>C (p.Glu8055Asp)
n.2128G>C
c.4215G>C (p.Glu1405Asp)
n.9072G>C
c.3318G>C (p.Glu1106Asp)
n.8964G>C
n.1994G>C
n.4402G>C
n.2217G>C
c.1845G>C (p.Glu615Asp)
c.25485G>C (p.Glu8495Asp)
c.25473G>C (p.Glu8491Asp)
c.25464G>C (p.Glu8488Asp)
c.25434G>C (p.Glu8478Asp)
c.25470G>C (p.Glu8490Asp)
c.25416G>C (p.Glu8472Asp)
c.25413G>C (p.Glu8471Asp)
c.25401G>C (p.Glu8467Asp)
c.25344G>C (p.Glu8448Asp)
c.25332G>C (p.Glu8444Asp)
c.25329G>C (p.Glu8443Asp)
c.25326G>C (p.Glu8442Asp)
c.25482G>C (p.Glu8494Asp)
c.25320G>C (p.Glu8440Asp)
c.23760G>C (p.Glu7920Asp)
c.23253G>C (p.Glu7751Asp)
c.18720G>C (p.Glu6240Asp)
c.1986G>C (p.Glu662Asp)
c.25458G>C (p.Glu8486Asp)
c.25407G>C (p.Glu8469Asp)
c.25260G>C (p.Glu8420Asp)
6g.152140028C>TCA452969861SYNE1c.1914G>A (p.Glu638=)
c.25380G>A (p.Glu8460=)
c.25236G>A (p.Glu8412=)
c.782G>A
c.1115G>A
c.1024G>A
c.1152G>A (p.Glu384=)
c.24165G>A (p.Glu8055=)
n.2128G>A
c.4215G>A (p.Glu1405=)
n.9072G>A
c.3318G>A (p.Glu1106=)
n.8964G>A
n.1994G>A
n.4402G>A
n.2217G>A
c.1845G>A (p.Glu615=)
c.25485G>A (p.Glu8495=)
c.25473G>A (p.Glu8491=)
c.25464G>A (p.Glu8488=)
c.25434G>A (p.Glu8478=)
c.25470G>A (p.Glu8490=)
c.25416G>A (p.Glu8472=)
c.25413G>A (p.Glu8471=)
c.25401G>A (p.Glu8467=)
c.25344G>A (p.Glu8448=)
c.25332G>A (p.Glu8444=)
c.25329G>A (p.Glu8443=)
c.25326G>A (p.Glu8442=)
c.25482G>A (p.Glu8494=)
c.25320G>A (p.Glu8440=)
c.23760G>A (p.Glu7920=)
c.23253G>A (p.Glu7751=)
c.18720G>A (p.Glu6240=)
c.1986G>A (p.Glu662=)
c.25458G>A (p.Glu8486=)
c.25407G>A (p.Glu8469=)
c.25260G>A (p.Glu8420=)
6g.152140029T>ACA366080225SYNE1c.1913A>T (p.Glu638Val)
c.25379A>T (p.Glu8460Val)
c.25235A>T (p.Glu8412Val)
c.781A>T
c.1114A>T
c.1023A>T
c.1151A>T (p.Glu384Val)
c.24164A>T (p.Glu8055Val)
n.2127A>T
c.4214A>T (p.Glu1405Val)
n.9071A>T
c.3317A>T (p.Glu1106Val)
n.8963A>T
n.1993A>T
n.4401A>T
n.2216A>T
c.1844A>T (p.Glu615Val)
c.25484A>T (p.Glu8495Val)
c.25472A>T (p.Glu8491Val)
c.25463A>T (p.Glu8488Val)
c.25433A>T (p.Glu8478Val)
c.25469A>T (p.Glu8490Val)
c.25415A>T (p.Glu8472Val)
c.25412A>T (p.Glu8471Val)
c.25400A>T (p.Glu8467Val)
c.25343A>T (p.Glu8448Val)
c.25331A>T (p.Glu8444Val)
c.25328A>T (p.Glu8443Val)
c.25325A>T (p.Glu8442Val)
c.25481A>T (p.Glu8494Val)
c.25319A>T (p.Glu8440Val)
c.23759A>T (p.Glu7920Val)
c.23252A>T (p.Glu7751Val)
c.18719A>T (p.Glu6240Val)
c.1985A>T (p.Glu662Val)
c.25457A>T (p.Glu8486Val)
c.25406A>T (p.Glu8469Val)
c.25259A>T (p.Glu8420Val)
6g.152140029T>CCA366080227SYNE1c.1913A>G (p.Glu638Gly)
c.25379A>G (p.Glu8460Gly)
c.25235A>G (p.Glu8412Gly)
c.781A>G
c.1114A>G
c.1023A>G
c.1151A>G (p.Glu384Gly)
c.24164A>G (p.Glu8055Gly)
n.2127A>G
c.4214A>G (p.Glu1405Gly)
n.9071A>G
c.3317A>G (p.Glu1106Gly)
n.8963A>G
n.1993A>G
n.4401A>G
n.2216A>G
c.1844A>G (p.Glu615Gly)
c.25484A>G (p.Glu8495Gly)
c.25472A>G (p.Glu8491Gly)
c.25463A>G (p.Glu8488Gly)
c.25433A>G (p.Glu8478Gly)
c.25469A>G (p.Glu8490Gly)
c.25415A>G (p.Glu8472Gly)
c.25412A>G (p.Glu8471Gly)
c.25400A>G (p.Glu8467Gly)
c.25343A>G (p.Glu8448Gly)
c.25331A>G (p.Glu8444Gly)
c.25328A>G (p.Glu8443Gly)
c.25325A>G (p.Glu8442Gly)
c.25481A>G (p.Glu8494Gly)
c.25319A>G (p.Glu8440Gly)
c.23759A>G (p.Glu7920Gly)
c.23252A>G (p.Glu7751Gly)
c.18719A>G (p.Glu6240Gly)
c.1985A>G (p.Glu662Gly)
c.25457A>G (p.Glu8486Gly)
c.25406A>G (p.Glu8469Gly)
c.25259A>G (p.Glu8420Gly)
6g.152140029T>GCA366080229SYNE1c.1913A>C (p.Glu638Ala)
c.25379A>C (p.Glu8460Ala)
c.25235A>C (p.Glu8412Ala)
c.781A>C
c.1114A>C
c.1023A>C
c.1151A>C (p.Glu384Ala)
c.24164A>C (p.Glu8055Ala)
n.2127A>C
c.4214A>C (p.Glu1405Ala)
n.9071A>C
c.3317A>C (p.Glu1106Ala)
n.8963A>C
n.1993A>C
n.4401A>C
n.2216A>C
c.1844A>C (p.Glu615Ala)
c.25484A>C (p.Glu8495Ala)
c.25472A>C (p.Glu8491Ala)
c.25463A>C (p.Glu8488Ala)
c.25433A>C (p.Glu8478Ala)
c.25469A>C (p.Glu8490Ala)
c.25415A>C (p.Glu8472Ala)
c.25412A>C (p.Glu8471Ala)
c.25400A>C (p.Glu8467Ala)
c.25343A>C (p.Glu8448Ala)
c.25331A>C (p.Glu8444Ala)
c.25328A>C (p.Glu8443Ala)
c.25325A>C (p.Glu8442Ala)
c.25481A>C (p.Glu8494Ala)
c.25319A>C (p.Glu8440Ala)
c.23759A>C (p.Glu7920Ala)
c.23252A>C (p.Glu7751Ala)
c.18719A>C (p.Glu6240Ala)
c.1985A>C (p.Glu662Ala)
c.25457A>C (p.Glu8486Ala)
c.25406A>C (p.Glu8469Ala)
c.25259A>C (p.Glu8420Ala)
6g.152140030C>ACA366080235SYNE1c.1912G>T (p.Glu638Ter)
c.25378G>T (p.Glu8460Ter)
c.25234G>T (p.Glu8412Ter)
c.780G>T
c.1113G>T
c.1022G>T
c.1150G>T (p.Glu384Ter)
c.24163G>T (p.Glu8055Ter)
n.2126G>T
c.4213G>T (p.Glu1405Ter)
n.9070G>T
c.3316G>T (p.Glu1106Ter)
n.8962G>T
n.1992G>T
n.4400G>T
n.2215G>T
c.1843G>T (p.Glu615Ter)
c.25483G>T (p.Glu8495Ter)
c.25471G>T (p.Glu8491Ter)
c.25462G>T (p.Glu8488Ter)
c.25432G>T (p.Glu8478Ter)
c.25468G>T (p.Glu8490Ter)
c.25414G>T (p.Glu8472Ter)
c.25411G>T (p.Glu8471Ter)
c.25399G>T (p.Glu8467Ter)
c.25342G>T (p.Glu8448Ter)
c.25330G>T (p.Glu8444Ter)
c.25327G>T (p.Glu8443Ter)
c.25324G>T (p.Glu8442Ter)
c.25480G>T (p.Glu8494Ter)
c.25318G>T (p.Glu8440Ter)
c.23758G>T (p.Glu7920Ter)
c.23251G>T (p.Glu7751Ter)
c.18718G>T (p.Glu6240Ter)
c.1984G>T (p.Glu662Ter)
c.25456G>T (p.Glu8486Ter)
c.25405G>T (p.Glu8469Ter)
c.25258G>T (p.Glu8420Ter)
6g.152140030C>GCA366080233SYNE1c.1912G>C (p.Glu638Gln)
c.25378G>C (p.Glu8460Gln)
c.25234G>C (p.Glu8412Gln)
c.780G>C
c.1113G>C
c.1022G>C
c.1150G>C (p.Glu384Gln)
c.24163G>C (p.Glu8055Gln)
n.2126G>C
c.4213G>C (p.Glu1405Gln)
n.9070G>C
c.3316G>C (p.Glu1106Gln)
n.8962G>C
n.1992G>C
n.4400G>C
n.2215G>C
c.1843G>C (p.Glu615Gln)
c.25483G>C (p.Glu8495Gln)
c.25471G>C (p.Glu8491Gln)
c.25462G>C (p.Glu8488Gln)
c.25432G>C (p.Glu8478Gln)
c.25468G>C (p.Glu8490Gln)
c.25414G>C (p.Glu8472Gln)
c.25411G>C (p.Glu8471Gln)
c.25399G>C (p.Glu8467Gln)
c.25342G>C (p.Glu8448Gln)
c.25330G>C (p.Glu8444Gln)
c.25327G>C (p.Glu8443Gln)
c.25324G>C (p.Glu8442Gln)
c.25480G>C (p.Glu8494Gln)
c.25318G>C (p.Glu8440Gln)
c.23758G>C (p.Glu7920Gln)
c.23251G>C (p.Glu7751Gln)
c.18718G>C (p.Glu6240Gln)
c.1984G>C (p.Glu662Gln)
c.25456G>C (p.Glu8486Gln)
c.25405G>C (p.Glu8469Gln)
c.25258G>C (p.Glu8420Gln)
6g.152140030C>TCA366080231SYNE1c.1912G>A (p.Glu638Lys)
c.25378G>A (p.Glu8460Lys)
c.25234G>A (p.Glu8412Lys)
c.780G>A
c.1113G>A
c.1022G>A
c.1150G>A (p.Glu384Lys)
c.24163G>A (p.Glu8055Lys)
n.2126G>A
c.4213G>A (p.Glu1405Lys)
n.9070G>A
c.3316G>A (p.Glu1106Lys)
n.8962G>A
n.1992G>A
n.4400G>A
n.2215G>A
c.1843G>A (p.Glu615Lys)
c.25483G>A (p.Glu8495Lys)
c.25471G>A (p.Glu8491Lys)
c.25462G>A (p.Glu8488Lys)
c.25432G>A (p.Glu8478Lys)
c.25468G>A (p.Glu8490Lys)
c.25414G>A (p.Glu8472Lys)
c.25411G>A (p.Glu8471Lys)
c.25399G>A (p.Glu8467Lys)
c.25342G>A (p.Glu8448Lys)
c.25330G>A (p.Glu8444Lys)
c.25327G>A (p.Glu8443Lys)
c.25324G>A (p.Glu8442Lys)
c.25480G>A (p.Glu8494Lys)
c.25318G>A (p.Glu8440Lys)
c.23758G>A (p.Glu7920Lys)
c.23251G>A (p.Glu7751Lys)
c.18718G>A (p.Glu6240Lys)
c.1984G>A (p.Glu662Lys)
c.25456G>A (p.Glu8486Lys)
c.25405G>A (p.Glu8469Lys)
c.25258G>A (p.Glu8420Lys)
6g.152140031C>ACA452969864SYNE1c.1911G>T (p.Thr637=)
c.25377G>T (p.Thr8459=)
c.25233G>T (p.Thr8411=)
c.779G>T
c.1112G>T
c.1021G>T
c.1149G>T (p.Thr383=)
c.24162G>T (p.Thr8054=)
n.2125G>T
c.4212G>T (p.Thr1404=)
n.9069G>T
c.3315G>T (p.Thr1105=)
n.8961G>T
n.1991G>T
n.4399G>T
n.2214G>T
c.1842G>T (p.Thr614=)
c.25482G>T (p.Thr8494=)
c.25470G>T (p.Thr8490=)
c.25461G>T (p.Thr8487=)
c.25431G>T (p.Thr8477=)
c.25467G>T (p.Thr8489=)
c.25413G>T (p.Thr8471=)
c.25410G>T (p.Thr8470=)
c.25398G>T (p.Thr8466=)
c.25341G>T (p.Thr8447=)
c.25329G>T (p.Thr8443=)
c.25326G>T (p.Thr8442=)
c.25323G>T (p.Thr8441=)
c.25479G>T (p.Thr8493=)
c.25317G>T (p.Thr8439=)
c.23757G>T (p.Thr7919=)
c.23250G>T (p.Thr7750=)
c.18717G>T (p.Thr6239=)
c.1983G>T (p.Thr661=)
c.25455G>T (p.Thr8485=)
c.25404G>T (p.Thr8468=)
c.25257G>T (p.Thr8419=)
6g.152140031C=CA1673206265SYNE1c.1911G= (p.Thr637=)
c.25377G= (p.Thr8459=)
c.25233G= (p.Thr8411=)
c.779G=
c.1112G=
c.1021G=
c.1149G= (p.Thr383=)
c.24162G= (p.Thr8054=)
n.2125G=
c.4212G= (p.Thr1404=)
n.9069G=
c.3315G= (p.Thr1105=)
n.8961G=
n.1991G=
n.4399G=
n.2214G=
c.1842G= (p.Thr614=)
c.25482G= (p.Thr8494=)
c.25470G= (p.Thr8490=)
c.25461G= (p.Thr8487=)
c.25431G= (p.Thr8477=)
c.25467G= (p.Thr8489=)
c.25413G= (p.Thr8471=)
c.25410G= (p.Thr8470=)
c.25398G= (p.Thr8466=)
c.25341G= (p.Thr8447=)
c.25329G= (p.Thr8443=)
c.25326G= (p.Thr8442=)
c.25323G= (p.Thr8441=)
c.25479G= (p.Thr8493=)
c.25317G= (p.Thr8439=)
c.23757G= (p.Thr7919=)
c.23250G= (p.Thr7750=)
c.18717G= (p.Thr6239=)
c.1983G= (p.Thr661=)
c.25455G= (p.Thr8485=)
c.25404G= (p.Thr8468=)
c.25257G= (p.Thr8419=)
6g.152140031C>GCA452969863SYNE1c.1911G>C (p.Thr637=)
c.25377G>C (p.Thr8459=)
c.25233G>C (p.Thr8411=)
c.779G>C
c.1112G>C
c.1021G>C
c.1149G>C (p.Thr383=)
c.24162G>C (p.Thr8054=)
n.2125G>C
c.4212G>C (p.Thr1404=)
n.9069G>C
c.3315G>C (p.Thr1105=)
n.8961G>C
n.1991G>C
n.4399G>C
n.2214G>C
c.1842G>C (p.Thr614=)
c.25482G>C (p.Thr8494=)
c.25470G>C (p.Thr8490=)
c.25461G>C (p.Thr8487=)
c.25431G>C (p.Thr8477=)
c.25467G>C (p.Thr8489=)
c.25413G>C (p.Thr8471=)
c.25410G>C (p.Thr8470=)
c.25398G>C (p.Thr8466=)
c.25341G>C (p.Thr8447=)
c.25329G>C (p.Thr8443=)
c.25326G>C (p.Thr8442=)
c.25323G>C (p.Thr8441=)
c.25479G>C (p.Thr8493=)
c.25317G>C (p.Thr8439=)
c.23757G>C (p.Thr7919=)
c.23250G>C (p.Thr7750=)
c.18717G>C (p.Thr6239=)
c.1983G>C (p.Thr661=)
c.25455G>C (p.Thr8485=)
c.25404G>C (p.Thr8468=)
c.25257G>C (p.Thr8419=)
 ClinVar dbSNP gnomAD v4
6g.152140031C>TCA4052855SYNE1c.1911G>A (p.Thr637=)
c.25377G>A (p.Thr8459=)
c.25233G>A (p.Thr8411=)
c.779G>A
c.1112G>A
c.1021G>A
c.1149G>A (p.Thr383=)
c.24162G>A (p.Thr8054=)
n.2125G>A
c.4212G>A (p.Thr1404=)
n.9069G>A
c.3315G>A (p.Thr1105=)
n.8961G>A
n.1991G>A
n.4399G>A
n.2214G>A
c.1842G>A (p.Thr614=)
c.25482G>A (p.Thr8494=)
c.25470G>A (p.Thr8490=)
c.25461G>A (p.Thr8487=)
c.25431G>A (p.Thr8477=)
c.25467G>A (p.Thr8489=)
c.25413G>A (p.Thr8471=)
c.25410G>A (p.Thr8470=)
c.25398G>A (p.Thr8466=)
c.25341G>A (p.Thr8447=)
c.25329G>A (p.Thr8443=)
c.25326G>A (p.Thr8442=)
c.25323G>A (p.Thr8441=)
c.25479G>A (p.Thr8493=)
c.25317G>A (p.Thr8439=)
c.23757G>A (p.Thr7919=)
c.23250G>A (p.Thr7750=)
c.18717G>A (p.Thr6239=)
c.1983G>A (p.Thr661=)
c.25455G>A (p.Thr8485=)
c.25404G>A (p.Thr8468=)
c.25257G>A (p.Thr8419=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140032G>ACA4052857SYNE1c.1910C>T (p.Thr637Met)
c.25376C>T (p.Thr8459Met)
c.25232C>T (p.Thr8411Met)
c.778C>T
c.1111C>T
c.1020C>T
c.1148C>T (p.Thr383Met)
c.24161C>T (p.Thr8054Met)
n.2124C>T
c.4211C>T (p.Thr1404Met)
n.9068C>T
c.3314C>T (p.Thr1105Met)
n.8960C>T
n.1990C>T
n.4398C>T
n.2213C>T
c.1841C>T (p.Thr614Met)
c.25481C>T (p.Thr8494Met)
c.25469C>T (p.Thr8490Met)
c.25460C>T (p.Thr8487Met)
c.25430C>T (p.Thr8477Met)
c.25466C>T (p.Thr8489Met)
c.25412C>T (p.Thr8471Met)
c.25409C>T (p.Thr8470Met)
c.25397C>T (p.Thr8466Met)
c.25340C>T (p.Thr8447Met)
c.25328C>T (p.Thr8443Met)
c.25325C>T (p.Thr8442Met)
c.25322C>T (p.Thr8441Met)
c.25478C>T (p.Thr8493Met)
c.25316C>T (p.Thr8439Met)
c.23756C>T (p.Thr7919Met)
c.23249C>T (p.Thr7750Met)
c.18716C>T (p.Thr6239Met)
c.1982C>T (p.Thr661Met)
c.25454C>T (p.Thr8485Met)
c.25403C>T (p.Thr8468Met)
c.25256C>T (p.Thr8419Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140032G>CCA366080239SYNE1c.1910C>G (p.Thr637Arg)
c.25376C>G (p.Thr8459Arg)
c.25232C>G (p.Thr8411Arg)
c.778C>G
c.1111C>G
c.1020C>G
c.1148C>G (p.Thr383Arg)
c.24161C>G (p.Thr8054Arg)
n.2124C>G
c.4211C>G (p.Thr1404Arg)
n.9068C>G
c.3314C>G (p.Thr1105Arg)
n.8960C>G
n.1990C>G
n.4398C>G
n.2213C>G
c.1841C>G (p.Thr614Arg)
c.25481C>G (p.Thr8494Arg)
c.25469C>G (p.Thr8490Arg)
c.25460C>G (p.Thr8487Arg)
c.25430C>G (p.Thr8477Arg)
c.25466C>G (p.Thr8489Arg)
c.25412C>G (p.Thr8471Arg)
c.25409C>G (p.Thr8470Arg)
c.25397C>G (p.Thr8466Arg)
c.25340C>G (p.Thr8447Arg)
c.25328C>G (p.Thr8443Arg)
c.25325C>G (p.Thr8442Arg)
c.25322C>G (p.Thr8441Arg)
c.25478C>G (p.Thr8493Arg)
c.25316C>G (p.Thr8439Arg)
c.23756C>G (p.Thr7919Arg)
c.23249C>G (p.Thr7750Arg)
c.18716C>G (p.Thr6239Arg)
c.1982C>G (p.Thr661Arg)
c.25454C>G (p.Thr8485Arg)
c.25403C>G (p.Thr8468Arg)
c.25256C>G (p.Thr8419Arg)
 gnomAD v4
6g.152140032G=CA1673206271SYNE1c.1910C= (p.Thr637=)
c.25376C= (p.Thr8459=)
c.25232C= (p.Thr8411=)
c.778C=
c.1111C=
c.1020C=
c.1148C= (p.Thr383=)
c.24161C= (p.Thr8054=)
n.2124C=
c.4211C= (p.Thr1404=)
n.9068C=
c.3314C= (p.Thr1105=)
n.8960C=
n.1990C=
n.4398C=
n.2213C=
c.1841C= (p.Thr614=)
c.25481C= (p.Thr8494=)
c.25469C= (p.Thr8490=)
c.25460C= (p.Thr8487=)
c.25430C= (p.Thr8477=)
c.25466C= (p.Thr8489=)
c.25412C= (p.Thr8471=)
c.25409C= (p.Thr8470=)
c.25397C= (p.Thr8466=)
c.25340C= (p.Thr8447=)
c.25328C= (p.Thr8443=)
c.25325C= (p.Thr8442=)
c.25322C= (p.Thr8441=)
c.25478C= (p.Thr8493=)
c.25316C= (p.Thr8439=)
c.23756C= (p.Thr7919=)
c.23249C= (p.Thr7750=)
c.18716C= (p.Thr6239=)
c.1982C= (p.Thr661=)
c.25454C= (p.Thr8485=)
c.25403C= (p.Thr8468=)
c.25256C= (p.Thr8419=)
6g.152140032G>TCA4052856SYNE1c.1910C>A (p.Thr637Lys)
c.25376C>A (p.Thr8459Lys)
c.25232C>A (p.Thr8411Lys)
c.778C>A
c.1111C>A
c.1020C>A
c.1148C>A (p.Thr383Lys)
c.24161C>A (p.Thr8054Lys)
n.2124C>A
c.4211C>A (p.Thr1404Lys)
n.9068C>A
c.3314C>A (p.Thr1105Lys)
n.8960C>A
n.1990C>A
n.4398C>A
n.2213C>A
c.1841C>A (p.Thr614Lys)
c.25481C>A (p.Thr8494Lys)
c.25469C>A (p.Thr8490Lys)
c.25460C>A (p.Thr8487Lys)
c.25430C>A (p.Thr8477Lys)
c.25466C>A (p.Thr8489Lys)
c.25412C>A (p.Thr8471Lys)
c.25409C>A (p.Thr8470Lys)
c.25397C>A (p.Thr8466Lys)
c.25340C>A (p.Thr8447Lys)
c.25328C>A (p.Thr8443Lys)
c.25325C>A (p.Thr8442Lys)
c.25322C>A (p.Thr8441Lys)
c.25478C>A (p.Thr8493Lys)
c.25316C>A (p.Thr8439Lys)
c.23756C>A (p.Thr7919Lys)
c.23249C>A (p.Thr7750Lys)
c.18716C>A (p.Thr6239Lys)
c.1982C>A (p.Thr661Lys)
c.25454C>A (p.Thr8485Lys)
c.25403C>A (p.Thr8468Lys)
c.25256C>A (p.Thr8419Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140033T>ACA366080242SYNE1c.1909A>T (p.Thr637Ser)
c.25375A>T (p.Thr8459Ser)
c.25231A>T (p.Thr8411Ser)
c.777A>T
c.1110A>T
c.1019A>T
c.1147A>T (p.Thr383Ser)
c.24160A>T (p.Thr8054Ser)
n.2123A>T
c.4210A>T (p.Thr1404Ser)
n.9067A>T
c.3313A>T (p.Thr1105Ser)
n.8959A>T
n.1989A>T
n.4397A>T
n.2212A>T
c.1840A>T (p.Thr614Ser)
c.25480A>T (p.Thr8494Ser)
c.25468A>T (p.Thr8490Ser)
c.25459A>T (p.Thr8487Ser)
c.25429A>T (p.Thr8477Ser)
c.25465A>T (p.Thr8489Ser)
c.25411A>T (p.Thr8471Ser)
c.25408A>T (p.Thr8470Ser)
c.25396A>T (p.Thr8466Ser)
c.25339A>T (p.Thr8447Ser)
c.25327A>T (p.Thr8443Ser)
c.25324A>T (p.Thr8442Ser)
c.25321A>T (p.Thr8441Ser)
c.25477A>T (p.Thr8493Ser)
c.25315A>T (p.Thr8439Ser)
c.23755A>T (p.Thr7919Ser)
c.23248A>T (p.Thr7750Ser)
c.18715A>T (p.Thr6239Ser)
c.1981A>T (p.Thr661Ser)
c.25453A>T (p.Thr8485Ser)
c.25402A>T (p.Thr8468Ser)
c.25255A>T (p.Thr8419Ser)
6g.152140033T>CCA366080244SYNE1c.1909A>G (p.Thr637Ala)
c.25375A>G (p.Thr8459Ala)
c.25231A>G (p.Thr8411Ala)
c.777A>G
c.1110A>G
c.1019A>G
c.1147A>G (p.Thr383Ala)
c.24160A>G (p.Thr8054Ala)
n.2123A>G
c.4210A>G (p.Thr1404Ala)
n.9067A>G
c.3313A>G (p.Thr1105Ala)
n.8959A>G
n.1989A>G
n.4397A>G
n.2212A>G
c.1840A>G (p.Thr614Ala)
c.25480A>G (p.Thr8494Ala)
c.25468A>G (p.Thr8490Ala)
c.25459A>G (p.Thr8487Ala)
c.25429A>G (p.Thr8477Ala)
c.25465A>G (p.Thr8489Ala)
c.25411A>G (p.Thr8471Ala)
c.25408A>G (p.Thr8470Ala)
c.25396A>G (p.Thr8466Ala)
c.25339A>G (p.Thr8447Ala)
c.25327A>G (p.Thr8443Ala)
c.25324A>G (p.Thr8442Ala)
c.25321A>G (p.Thr8441Ala)
c.25477A>G (p.Thr8493Ala)
c.25315A>G (p.Thr8439Ala)
c.23755A>G (p.Thr7919Ala)
c.23248A>G (p.Thr7750Ala)
c.18715A>G (p.Thr6239Ala)
c.1981A>G (p.Thr661Ala)
c.25453A>G (p.Thr8485Ala)
c.25402A>G (p.Thr8468Ala)
c.25255A>G (p.Thr8419Ala)
6g.152140033T>GCA4052858SYNE1c.1909A>C (p.Thr637Pro)
c.25375A>C (p.Thr8459Pro)
c.25231A>C (p.Thr8411Pro)
c.777A>C
c.1110A>C
c.1019A>C
c.1147A>C (p.Thr383Pro)
c.24160A>C (p.Thr8054Pro)
n.2123A>C
c.4210A>C (p.Thr1404Pro)
n.9067A>C
c.3313A>C (p.Thr1105Pro)
n.8959A>C
n.1989A>C
n.4397A>C
n.2212A>C
c.1840A>C (p.Thr614Pro)
c.25480A>C (p.Thr8494Pro)
c.25468A>C (p.Thr8490Pro)
c.25459A>C (p.Thr8487Pro)
c.25429A>C (p.Thr8477Pro)
c.25465A>C (p.Thr8489Pro)
c.25411A>C (p.Thr8471Pro)
c.25408A>C (p.Thr8470Pro)
c.25396A>C (p.Thr8466Pro)
c.25339A>C (p.Thr8447Pro)
c.25327A>C (p.Thr8443Pro)
c.25324A>C (p.Thr8442Pro)
c.25321A>C (p.Thr8441Pro)
c.25477A>C (p.Thr8493Pro)
c.25315A>C (p.Thr8439Pro)
c.23755A>C (p.Thr7919Pro)
c.23248A>C (p.Thr7750Pro)
c.18715A>C (p.Thr6239Pro)
c.1981A>C (p.Thr661Pro)
c.25453A>C (p.Thr8485Pro)
c.25402A>C (p.Thr8468Pro)
c.25255A>C (p.Thr8419Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140033T=CA1673206275SYNE1c.1909A= (p.Thr637=)
c.25375A= (p.Thr8459=)
c.25231A= (p.Thr8411=)
c.777A=
c.1110A=
c.1019A=
c.1147A= (p.Thr383=)
c.24160A= (p.Thr8054=)
n.2123A=
c.4210A= (p.Thr1404=)
n.9067A=
c.3313A= (p.Thr1105=)
n.8959A=
n.1989A=
n.4397A=
n.2212A=
c.1840A= (p.Thr614=)
c.25480A= (p.Thr8494=)
c.25468A= (p.Thr8490=)
c.25459A= (p.Thr8487=)
c.25429A= (p.Thr8477=)
c.25465A= (p.Thr8489=)
c.25411A= (p.Thr8471=)
c.25408A= (p.Thr8470=)
c.25396A= (p.Thr8466=)
c.25339A= (p.Thr8447=)
c.25327A= (p.Thr8443=)
c.25324A= (p.Thr8442=)
c.25321A= (p.Thr8441=)
c.25477A= (p.Thr8493=)
c.25315A= (p.Thr8439=)
c.23755A= (p.Thr7919=)
c.23248A= (p.Thr7750=)
c.18715A= (p.Thr6239=)
c.1981A= (p.Thr661=)
c.25453A= (p.Thr8485=)
c.25402A= (p.Thr8468=)
c.25255A= (p.Thr8419=)
6g.152140034G>ACA452969866SYNE1c.1908C>T (p.Asp636=)
c.25374C>T (p.Asp8458=)
c.25230C>T (p.Asp8410=)
c.776C>T
c.1109C>T
c.1018C>T
c.1146C>T (p.Asp382=)
c.24159C>T (p.Asp8053=)
n.2122C>T
c.4209C>T (p.Asp1403=)
n.9066C>T
c.3312C>T (p.Asp1104=)
n.8958C>T
n.1988C>T
n.4396C>T
n.2211C>T
c.1839C>T (p.Asp613=)
c.25479C>T (p.Asp8493=)
c.25467C>T (p.Asp8489=)
c.25458C>T (p.Asp8486=)
c.25428C>T (p.Asp8476=)
c.25464C>T (p.Asp8488=)
c.25410C>T (p.Asp8470=)
c.25407C>T (p.Asp8469=)
c.25395C>T (p.Asp8465=)
c.25338C>T (p.Asp8446=)
c.25326C>T (p.Asp8442=)
c.25323C>T (p.Asp8441=)
c.25320C>T (p.Asp8440=)
c.25476C>T (p.Asp8492=)
c.25314C>T (p.Asp8438=)
c.23754C>T (p.Asp7918=)
c.23247C>T (p.Asp7749=)
c.18714C>T (p.Asp6238=)
c.1980C>T (p.Asp660=)
c.25452C>T (p.Asp8484=)
c.25401C>T (p.Asp8467=)
c.25254C>T (p.Asp8418=)
6g.152140034G>CCA366080247SYNE1c.1908C>G (p.Asp636Glu)
c.25374C>G (p.Asp8458Glu)
c.25230C>G (p.Asp8410Glu)
c.776C>G
c.1109C>G
c.1018C>G
c.1146C>G (p.Asp382Glu)
c.24159C>G (p.Asp8053Glu)
n.2122C>G
c.4209C>G (p.Asp1403Glu)
n.9066C>G
c.3312C>G (p.Asp1104Glu)
n.8958C>G
n.1988C>G
n.4396C>G
n.2211C>G
c.1839C>G (p.Asp613Glu)
c.25479C>G (p.Asp8493Glu)
c.25467C>G (p.Asp8489Glu)
c.25458C>G (p.Asp8486Glu)
c.25428C>G (p.Asp8476Glu)
c.25464C>G (p.Asp8488Glu)
c.25410C>G (p.Asp8470Glu)
c.25407C>G (p.Asp8469Glu)
c.25395C>G (p.Asp8465Glu)
c.25338C>G (p.Asp8446Glu)
c.25326C>G (p.Asp8442Glu)
c.25323C>G (p.Asp8441Glu)
c.25320C>G (p.Asp8440Glu)
c.25476C>G (p.Asp8492Glu)
c.25314C>G (p.Asp8438Glu)
c.23754C>G (p.Asp7918Glu)
c.23247C>G (p.Asp7749Glu)
c.18714C>G (p.Asp6238Glu)
c.1980C>G (p.Asp660Glu)
c.25452C>G (p.Asp8484Glu)
c.25401C>G (p.Asp8467Glu)
c.25254C>G (p.Asp8418Glu)
6g.152140034G>TCA366080249SYNE1c.1908C>A (p.Asp636Glu)
c.25374C>A (p.Asp8458Glu)
c.25230C>A (p.Asp8410Glu)
c.776C>A
c.1109C>A
c.1018C>A
c.1146C>A (p.Asp382Glu)
c.24159C>A (p.Asp8053Glu)
n.2122C>A
c.4209C>A (p.Asp1403Glu)
n.9066C>A
c.3312C>A (p.Asp1104Glu)
n.8958C>A
n.1988C>A
n.4396C>A
n.2211C>A
c.1839C>A (p.Asp613Glu)
c.25479C>A (p.Asp8493Glu)
c.25467C>A (p.Asp8489Glu)
c.25458C>A (p.Asp8486Glu)
c.25428C>A (p.Asp8476Glu)
c.25464C>A (p.Asp8488Glu)
c.25410C>A (p.Asp8470Glu)
c.25407C>A (p.Asp8469Glu)
c.25395C>A (p.Asp8465Glu)
c.25338C>A (p.Asp8446Glu)
c.25326C>A (p.Asp8442Glu)
c.25323C>A (p.Asp8441Glu)
c.25320C>A (p.Asp8440Glu)
c.25476C>A (p.Asp8492Glu)
c.25314C>A (p.Asp8438Glu)
c.23754C>A (p.Asp7918Glu)
c.23247C>A (p.Asp7749Glu)
c.18714C>A (p.Asp6238Glu)
c.1980C>A (p.Asp660Glu)
c.25452C>A (p.Asp8484Glu)
c.25401C>A (p.Asp8467Glu)
c.25254C>A (p.Asp8418Glu)
6g.152140035T>ACA366080251SYNE1c.1907A>T (p.Asp636Val)
c.25373A>T (p.Asp8458Val)
c.25229A>T (p.Asp8410Val)
c.775A>T
c.1108A>T
c.1017A>T
c.1145A>T (p.Asp382Val)
c.24158A>T (p.Asp8053Val)
n.2121A>T
c.4208A>T (p.Asp1403Val)
n.9065A>T
c.3311A>T (p.Asp1104Val)
n.8957A>T
n.1987A>T
n.4395A>T
n.2210A>T
c.1838A>T (p.Asp613Val)
c.25478A>T (p.Asp8493Val)
c.25466A>T (p.Asp8489Val)
c.25457A>T (p.Asp8486Val)
c.25427A>T (p.Asp8476Val)
c.25463A>T (p.Asp8488Val)
c.25409A>T (p.Asp8470Val)
c.25406A>T (p.Asp8469Val)
c.25394A>T (p.Asp8465Val)
c.25337A>T (p.Asp8446Val)
c.25325A>T (p.Asp8442Val)
c.25322A>T (p.Asp8441Val)
c.25319A>T (p.Asp8440Val)
c.25475A>T (p.Asp8492Val)
c.25313A>T (p.Asp8438Val)
c.23753A>T (p.Asp7918Val)
c.23246A>T (p.Asp7749Val)
c.18713A>T (p.Asp6238Val)
c.1979A>T (p.Asp660Val)
c.25451A>T (p.Asp8484Val)
c.25400A>T (p.Asp8467Val)
c.25253A>T (p.Asp8418Val)
6g.152140035T>CCA366080252SYNE1c.1907A>G (p.Asp636Gly)
c.25373A>G (p.Asp8458Gly)
c.25229A>G (p.Asp8410Gly)
c.775A>G
c.1108A>G
c.1017A>G
c.1145A>G (p.Asp382Gly)
c.24158A>G (p.Asp8053Gly)
n.2121A>G
c.4208A>G (p.Asp1403Gly)
n.9065A>G
c.3311A>G (p.Asp1104Gly)
n.8957A>G
n.1987A>G
n.4395A>G
n.2210A>G
c.1838A>G (p.Asp613Gly)
c.25478A>G (p.Asp8493Gly)
c.25466A>G (p.Asp8489Gly)
c.25457A>G (p.Asp8486Gly)
c.25427A>G (p.Asp8476Gly)
c.25463A>G (p.Asp8488Gly)
c.25409A>G (p.Asp8470Gly)
c.25406A>G (p.Asp8469Gly)
c.25394A>G (p.Asp8465Gly)
c.25337A>G (p.Asp8446Gly)
c.25325A>G (p.Asp8442Gly)
c.25322A>G (p.Asp8441Gly)
c.25319A>G (p.Asp8440Gly)
c.25475A>G (p.Asp8492Gly)
c.25313A>G (p.Asp8438Gly)
c.23753A>G (p.Asp7918Gly)
c.23246A>G (p.Asp7749Gly)
c.18713A>G (p.Asp6238Gly)
c.1979A>G (p.Asp660Gly)
c.25451A>G (p.Asp8484Gly)
c.25400A>G (p.Asp8467Gly)
c.25253A>G (p.Asp8418Gly)
 gnomAD v3 gnomAD v4
6g.152140035T>GCA366080254SYNE1c.1907A>C (p.Asp636Ala)
c.25373A>C (p.Asp8458Ala)
c.25229A>C (p.Asp8410Ala)
c.775A>C
c.1108A>C
c.1017A>C
c.1145A>C (p.Asp382Ala)
c.24158A>C (p.Asp8053Ala)
n.2121A>C
c.4208A>C (p.Asp1403Ala)
n.9065A>C
c.3311A>C (p.Asp1104Ala)
n.8957A>C
n.1987A>C
n.4395A>C
n.2210A>C
c.1838A>C (p.Asp613Ala)
c.25478A>C (p.Asp8493Ala)
c.25466A>C (p.Asp8489Ala)
c.25457A>C (p.Asp8486Ala)
c.25427A>C (p.Asp8476Ala)
c.25463A>C (p.Asp8488Ala)
c.25409A>C (p.Asp8470Ala)
c.25406A>C (p.Asp8469Ala)
c.25394A>C (p.Asp8465Ala)
c.25337A>C (p.Asp8446Ala)
c.25325A>C (p.Asp8442Ala)
c.25322A>C (p.Asp8441Ala)
c.25319A>C (p.Asp8440Ala)
c.25475A>C (p.Asp8492Ala)
c.25313A>C (p.Asp8438Ala)
c.23753A>C (p.Asp7918Ala)
c.23246A>C (p.Asp7749Ala)
c.18713A>C (p.Asp6238Ala)
c.1979A>C (p.Asp660Ala)
c.25451A>C (p.Asp8484Ala)
c.25400A>C (p.Asp8467Ala)
c.25253A>C (p.Asp8418Ala)
6g.152140036C>ACA366080259SYNE1c.1906G>T (p.Asp636Tyr)
c.25372G>T (p.Asp8458Tyr)
c.25228G>T (p.Asp8410Tyr)
c.774G>T
c.1107G>T
c.1016G>T
c.1144G>T (p.Asp382Tyr)
c.24157G>T (p.Asp8053Tyr)
n.2120G>T
c.4207G>T (p.Asp1403Tyr)
n.9064G>T
c.3310G>T (p.Asp1104Tyr)
n.8956G>T
n.1986G>T
n.4394G>T
n.2209G>T
c.1837G>T (p.Asp613Tyr)
c.25477G>T (p.Asp8493Tyr)
c.25465G>T (p.Asp8489Tyr)
c.25456G>T (p.Asp8486Tyr)
c.25426G>T (p.Asp8476Tyr)
c.25462G>T (p.Asp8488Tyr)
c.25408G>T (p.Asp8470Tyr)
c.25405G>T (p.Asp8469Tyr)
c.25393G>T (p.Asp8465Tyr)
c.25336G>T (p.Asp8446Tyr)
c.25324G>T (p.Asp8442Tyr)
c.25321G>T (p.Asp8441Tyr)
c.25318G>T (p.Asp8440Tyr)
c.25474G>T (p.Asp8492Tyr)
c.25312G>T (p.Asp8438Tyr)
c.23752G>T (p.Asp7918Tyr)
c.23245G>T (p.Asp7749Tyr)
c.18712G>T (p.Asp6238Tyr)
c.1978G>T (p.Asp660Tyr)
c.25450G>T (p.Asp8484Tyr)
c.25399G>T (p.Asp8467Tyr)
c.25252G>T (p.Asp8418Tyr)
6g.152140036C>GCA366080258SYNE1c.1906G>C (p.Asp636His)
c.25372G>C (p.Asp8458His)
c.25228G>C (p.Asp8410His)
c.774G>C
c.1107G>C
c.1016G>C
c.1144G>C (p.Asp382His)
c.24157G>C (p.Asp8053His)
n.2120G>C
c.4207G>C (p.Asp1403His)
n.9064G>C
c.3310G>C (p.Asp1104His)
n.8956G>C
n.1986G>C
n.4394G>C
n.2209G>C
c.1837G>C (p.Asp613His)
c.25477G>C (p.Asp8493His)
c.25465G>C (p.Asp8489His)
c.25456G>C (p.Asp8486His)
c.25426G>C (p.Asp8476His)
c.25462G>C (p.Asp8488His)
c.25408G>C (p.Asp8470His)
c.25405G>C (p.Asp8469His)
c.25393G>C (p.Asp8465His)
c.25336G>C (p.Asp8446His)
c.25324G>C (p.Asp8442His)
c.25321G>C (p.Asp8441His)
c.25318G>C (p.Asp8440His)
c.25474G>C (p.Asp8492His)
c.25312G>C (p.Asp8438His)
c.23752G>C (p.Asp7918His)
c.23245G>C (p.Asp7749His)
c.18712G>C (p.Asp6238His)
c.1978G>C (p.Asp660His)
c.25450G>C (p.Asp8484His)
c.25399G>C (p.Asp8467His)
c.25252G>C (p.Asp8418His)
6g.152140036C>TCA366080256SYNE1c.1906G>A (p.Asp636Asn)
c.25372G>A (p.Asp8458Asn)
c.25228G>A (p.Asp8410Asn)
c.774G>A
c.1107G>A
c.1016G>A
c.1144G>A (p.Asp382Asn)
c.24157G>A (p.Asp8053Asn)
n.2120G>A
c.4207G>A (p.Asp1403Asn)
n.9064G>A
c.3310G>A (p.Asp1104Asn)
n.8956G>A
n.1986G>A
n.4394G>A
n.2209G>A
c.1837G>A (p.Asp613Asn)
c.25477G>A (p.Asp8493Asn)
c.25465G>A (p.Asp8489Asn)
c.25456G>A (p.Asp8486Asn)
c.25426G>A (p.Asp8476Asn)
c.25462G>A (p.Asp8488Asn)
c.25408G>A (p.Asp8470Asn)
c.25405G>A (p.Asp8469Asn)
c.25393G>A (p.Asp8465Asn)
c.25336G>A (p.Asp8446Asn)
c.25324G>A (p.Asp8442Asn)
c.25321G>A (p.Asp8441Asn)
c.25318G>A (p.Asp8440Asn)
c.25474G>A (p.Asp8492Asn)
c.25312G>A (p.Asp8438Asn)
c.23752G>A (p.Asp7918Asn)
c.23245G>A (p.Asp7749Asn)
c.18712G>A (p.Asp6238Asn)
c.1978G>A (p.Asp660Asn)
c.25450G>A (p.Asp8484Asn)
c.25399G>A (p.Asp8467Asn)
c.25252G>A (p.Asp8418Asn)
6g.152140037C>ACA452969868SYNE1c.1905G>T (p.Gly635=)
c.25371G>T (p.Gly8457=)
c.25227G>T (p.Gly8409=)
c.773G>T
c.1106G>T
c.1015G>T
c.1143G>T (p.Gly381=)
c.24156G>T (p.Gly8052=)
n.2119G>T
c.4206G>T (p.Gly1402=)
n.9063G>T
c.3309G>T (p.Gly1103=)
n.8955G>T
n.1985G>T
n.4393G>T
n.2208G>T
c.1836G>T (p.Gly612=)
c.25476G>T (p.Gly8492=)
c.25464G>T (p.Gly8488=)
c.25455G>T (p.Gly8485=)
c.25425G>T (p.Gly8475=)
c.25461G>T (p.Gly8487=)
c.25407G>T (p.Gly8469=)
c.25404G>T (p.Gly8468=)
c.25392G>T (p.Gly8464=)
c.25335G>T (p.Gly8445=)
c.25323G>T (p.Gly8441=)
c.25320G>T (p.Gly8440=)
c.25317G>T (p.Gly8439=)
c.25473G>T (p.Gly8491=)
c.25311G>T (p.Gly8437=)
c.23751G>T (p.Gly7917=)
c.23244G>T (p.Gly7748=)
c.18711G>T (p.Gly6237=)
c.1977G>T (p.Gly659=)
c.25449G>T (p.Gly8483=)
c.25398G>T (p.Gly8466=)
c.25251G>T (p.Gly8417=)
6g.152140037C=CA1673206279SYNE1c.1905G= (p.Gly635=)
c.25371G= (p.Gly8457=)
c.25227G= (p.Gly8409=)
c.773G=
c.1106G=
c.1015G=
c.1143G= (p.Gly381=)
c.24156G= (p.Gly8052=)
n.2119G=
c.4206G= (p.Gly1402=)
n.9063G=
c.3309G= (p.Gly1103=)
n.8955G=
n.1985G=
n.4393G=
n.2208G=
c.1836G= (p.Gly612=)
c.25476G= (p.Gly8492=)
c.25464G= (p.Gly8488=)
c.25455G= (p.Gly8485=)
c.25425G= (p.Gly8475=)
c.25461G= (p.Gly8487=)
c.25407G= (p.Gly8469=)
c.25404G= (p.Gly8468=)
c.25392G= (p.Gly8464=)
c.25335G= (p.Gly8445=)
c.25323G= (p.Gly8441=)
c.25320G= (p.Gly8440=)
c.25317G= (p.Gly8439=)
c.25473G= (p.Gly8491=)
c.25311G= (p.Gly8437=)
c.23751G= (p.Gly7917=)
c.23244G= (p.Gly7748=)
c.18711G= (p.Gly6237=)
c.1977G= (p.Gly659=)
c.25449G= (p.Gly8483=)
c.25398G= (p.Gly8466=)
c.25251G= (p.Gly8417=)
6g.152140037C>GCA452969869SYNE1c.1905G>C (p.Gly635=)
c.25371G>C (p.Gly8457=)
c.25227G>C (p.Gly8409=)
c.773G>C
c.1106G>C
c.1015G>C
c.1143G>C (p.Gly381=)
c.24156G>C (p.Gly8052=)
n.2119G>C
c.4206G>C (p.Gly1402=)
n.9063G>C
c.3309G>C (p.Gly1103=)
n.8955G>C
n.1985G>C
n.4393G>C
n.2208G>C
c.1836G>C (p.Gly612=)
c.25476G>C (p.Gly8492=)
c.25464G>C (p.Gly8488=)
c.25455G>C (p.Gly8485=)
c.25425G>C (p.Gly8475=)
c.25461G>C (p.Gly8487=)
c.25407G>C (p.Gly8469=)
c.25404G>C (p.Gly8468=)
c.25392G>C (p.Gly8464=)
c.25335G>C (p.Gly8445=)
c.25323G>C (p.Gly8441=)
c.25320G>C (p.Gly8440=)
c.25317G>C (p.Gly8439=)
c.25473G>C (p.Gly8491=)
c.25311G>C (p.Gly8437=)
c.23751G>C (p.Gly7917=)
c.23244G>C (p.Gly7748=)
c.18711G>C (p.Gly6237=)
c.1977G>C (p.Gly659=)
c.25449G>C (p.Gly8483=)
c.25398G>C (p.Gly8466=)
c.25251G>C (p.Gly8417=)
6g.152140037C>TCA452969870SYNE1c.1905G>A (p.Gly635=)
c.25371G>A (p.Gly8457=)
c.25227G>A (p.Gly8409=)
c.773G>A
c.1106G>A
c.1015G>A
c.1143G>A (p.Gly381=)
c.24156G>A (p.Gly8052=)
n.2119G>A
c.4206G>A (p.Gly1402=)
n.9063G>A
c.3309G>A (p.Gly1103=)
n.8955G>A
n.1985G>A
n.4393G>A
n.2208G>A
c.1836G>A (p.Gly612=)
c.25476G>A (p.Gly8492=)
c.25464G>A (p.Gly8488=)
c.25455G>A (p.Gly8485=)
c.25425G>A (p.Gly8475=)
c.25461G>A (p.Gly8487=)
c.25407G>A (p.Gly8469=)
c.25404G>A (p.Gly8468=)
c.25392G>A (p.Gly8464=)
c.25335G>A (p.Gly8445=)
c.25323G>A (p.Gly8441=)
c.25320G>A (p.Gly8440=)
c.25317G>A (p.Gly8439=)
c.25473G>A (p.Gly8491=)
c.25311G>A (p.Gly8437=)
c.23751G>A (p.Gly7917=)
c.23244G>A (p.Gly7748=)
c.18711G>A (p.Gly6237=)
c.1977G>A (p.Gly659=)
c.25449G>A (p.Gly8483=)
c.25398G>A (p.Gly8466=)
c.25251G>A (p.Gly8417=)
 dbSNP
6g.152140038C>ACA366080260SYNE1c.1904G>T (p.Gly635Val)
c.25370G>T (p.Gly8457Val)
c.25226G>T (p.Gly8409Val)
c.772G>T
c.1105G>T
c.1014G>T
c.1142G>T (p.Gly381Val)
c.24155G>T (p.Gly8052Val)
n.2118G>T
c.4205G>T (p.Gly1402Val)
n.9062G>T
c.3308G>T (p.Gly1103Val)
n.8954G>T
n.1984G>T
n.4392G>T
n.2207G>T
c.1835G>T (p.Gly612Val)
c.25475G>T (p.Gly8492Val)
c.25463G>T (p.Gly8488Val)
c.25454G>T (p.Gly8485Val)
c.25424G>T (p.Gly8475Val)
c.25460G>T (p.Gly8487Val)
c.25406G>T (p.Gly8469Val)
c.25403G>T (p.Gly8468Val)
c.25391G>T (p.Gly8464Val)
c.25334G>T (p.Gly8445Val)
c.25322G>T (p.Gly8441Val)
c.25319G>T (p.Gly8440Val)
c.25316G>T (p.Gly8439Val)
c.25472G>T (p.Gly8491Val)
c.25310G>T (p.Gly8437Val)
c.23750G>T (p.Gly7917Val)
c.23243G>T (p.Gly7748Val)
c.18710G>T (p.Gly6237Val)
c.1976G>T (p.Gly659Val)
c.25448G>T (p.Gly8483Val)
c.25397G>T (p.Gly8466Val)
c.25250G>T (p.Gly8417Val)
6g.152140038C=CA1673206282SYNE1c.1904G= (p.Gly635=)
c.25370G= (p.Gly8457=)
c.25226G= (p.Gly8409=)
c.772G=
c.1105G=
c.1014G=
c.1142G= (p.Gly381=)
c.24155G= (p.Gly8052=)
n.2118G=
c.4205G= (p.Gly1402=)
n.9062G=
c.3308G= (p.Gly1103=)
n.8954G=
n.1984G=
n.4392G=
n.2207G=
c.1835G= (p.Gly612=)
c.25475G= (p.Gly8492=)
c.25463G= (p.Gly8488=)
c.25454G= (p.Gly8485=)
c.25424G= (p.Gly8475=)
c.25460G= (p.Gly8487=)
c.25406G= (p.Gly8469=)
c.25403G= (p.Gly8468=)
c.25391G= (p.Gly8464=)
c.25334G= (p.Gly8445=)
c.25322G= (p.Gly8441=)
c.25319G= (p.Gly8440=)
c.25316G= (p.Gly8439=)
c.25472G= (p.Gly8491=)
c.25310G= (p.Gly8437=)
c.23750G= (p.Gly7917=)
c.23243G= (p.Gly7748=)
c.18710G= (p.Gly6237=)
c.1976G= (p.Gly659=)
c.25448G= (p.Gly8483=)
c.25397G= (p.Gly8466=)
c.25250G= (p.Gly8417=)
6g.152140038C>GCA366080263SYNE1c.1904G>C (p.Gly635Ala)
c.25370G>C (p.Gly8457Ala)
c.25226G>C (p.Gly8409Ala)
c.772G>C
c.1105G>C
c.1014G>C
c.1142G>C (p.Gly381Ala)
c.24155G>C (p.Gly8052Ala)
n.2118G>C
c.4205G>C (p.Gly1402Ala)
n.9062G>C
c.3308G>C (p.Gly1103Ala)
n.8954G>C
n.1984G>C
n.4392G>C
n.2207G>C
c.1835G>C (p.Gly612Ala)
c.25475G>C (p.Gly8492Ala)
c.25463G>C (p.Gly8488Ala)
c.25454G>C (p.Gly8485Ala)
c.25424G>C (p.Gly8475Ala)
c.25460G>C (p.Gly8487Ala)
c.25406G>C (p.Gly8469Ala)
c.25403G>C (p.Gly8468Ala)
c.25391G>C (p.Gly8464Ala)
c.25334G>C (p.Gly8445Ala)
c.25322G>C (p.Gly8441Ala)
c.25319G>C (p.Gly8440Ala)
c.25316G>C (p.Gly8439Ala)
c.25472G>C (p.Gly8491Ala)
c.25310G>C (p.Gly8437Ala)
c.23750G>C (p.Gly7917Ala)
c.23243G>C (p.Gly7748Ala)
c.18710G>C (p.Gly6237Ala)
c.1976G>C (p.Gly659Ala)
c.25448G>C (p.Gly8483Ala)
c.25397G>C (p.Gly8466Ala)
c.25250G>C (p.Gly8417Ala)
6g.152140038C>TCA4052859SYNE1c.1904G>A (p.Gly635Glu)
c.25370G>A (p.Gly8457Glu)
c.25226G>A (p.Gly8409Glu)
c.772G>A
c.1105G>A
c.1014G>A
c.1142G>A (p.Gly381Glu)
c.24155G>A (p.Gly8052Glu)
n.2118G>A
c.4205G>A (p.Gly1402Glu)
n.9062G>A
c.3308G>A (p.Gly1103Glu)
n.8954G>A
n.1984G>A
n.4392G>A
n.2207G>A
c.1835G>A (p.Gly612Glu)
c.25475G>A (p.Gly8492Glu)
c.25463G>A (p.Gly8488Glu)
c.25454G>A (p.Gly8485Glu)
c.25424G>A (p.Gly8475Glu)
c.25460G>A (p.Gly8487Glu)
c.25406G>A (p.Gly8469Glu)
c.25403G>A (p.Gly8468Glu)
c.25391G>A (p.Gly8464Glu)
c.25334G>A (p.Gly8445Glu)
c.25322G>A (p.Gly8441Glu)
c.25319G>A (p.Gly8440Glu)
c.25316G>A (p.Gly8439Glu)
c.25472G>A (p.Gly8491Glu)
c.25310G>A (p.Gly8437Glu)
c.23750G>A (p.Gly7917Glu)
c.23243G>A (p.Gly7748Glu)
c.18710G>A (p.Gly6237Glu)
c.1976G>A (p.Gly659Glu)
c.25448G>A (p.Gly8483Glu)
c.25397G>A (p.Gly8466Glu)
c.25250G>A (p.Gly8417Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140039C>ACA366080271SYNE1c.1903G>T (p.Gly635Trp)
c.25369G>T (p.Gly8457Trp)
c.25225G>T (p.Gly8409Trp)
c.771G>T
c.1104G>T
c.1013G>T
c.1141G>T (p.Gly381Trp)
c.24154G>T (p.Gly8052Trp)
n.2117G>T
c.4204G>T (p.Gly1402Trp)
n.9061G>T
c.3307G>T (p.Gly1103Trp)
n.8953G>T
n.1983G>T
n.4391G>T
n.2206G>T
c.1834G>T (p.Gly612Trp)
c.25474G>T (p.Gly8492Trp)
c.25462G>T (p.Gly8488Trp)
c.25453G>T (p.Gly8485Trp)
c.25423G>T (p.Gly8475Trp)
c.25459G>T (p.Gly8487Trp)
c.25405G>T (p.Gly8469Trp)
c.25402G>T (p.Gly8468Trp)
c.25390G>T (p.Gly8464Trp)
c.25333G>T (p.Gly8445Trp)
c.25321G>T (p.Gly8441Trp)
c.25318G>T (p.Gly8440Trp)
c.25315G>T (p.Gly8439Trp)
c.25471G>T (p.Gly8491Trp)
c.25309G>T (p.Gly8437Trp)
c.23749G>T (p.Gly7917Trp)
c.23242G>T (p.Gly7748Trp)
c.18709G>T (p.Gly6237Trp)
c.1975G>T (p.Gly659Trp)
c.25447G>T (p.Gly8483Trp)
c.25396G>T (p.Gly8466Trp)
c.25249G>T (p.Gly8417Trp)
6g.152140039C>GCA366080275SYNE1c.1903G>C (p.Gly635Arg)
c.25369G>C (p.Gly8457Arg)
c.25225G>C (p.Gly8409Arg)
c.771G>C
c.1104G>C
c.1013G>C
c.1141G>C (p.Gly381Arg)
c.24154G>C (p.Gly8052Arg)
n.2117G>C
c.4204G>C (p.Gly1402Arg)
n.9061G>C
c.3307G>C (p.Gly1103Arg)
n.8953G>C
n.1983G>C
n.4391G>C
n.2206G>C
c.1834G>C (p.Gly612Arg)
c.25474G>C (p.Gly8492Arg)
c.25462G>C (p.Gly8488Arg)
c.25453G>C (p.Gly8485Arg)
c.25423G>C (p.Gly8475Arg)
c.25459G>C (p.Gly8487Arg)
c.25405G>C (p.Gly8469Arg)
c.25402G>C (p.Gly8468Arg)
c.25390G>C (p.Gly8464Arg)
c.25333G>C (p.Gly8445Arg)
c.25321G>C (p.Gly8441Arg)
c.25318G>C (p.Gly8440Arg)
c.25315G>C (p.Gly8439Arg)
c.25471G>C (p.Gly8491Arg)
c.25309G>C (p.Gly8437Arg)
c.23749G>C (p.Gly7917Arg)
c.23242G>C (p.Gly7748Arg)
c.18709G>C (p.Gly6237Arg)
c.1975G>C (p.Gly659Arg)
c.25447G>C (p.Gly8483Arg)
c.25396G>C (p.Gly8466Arg)
c.25249G>C (p.Gly8417Arg)
6g.152140039C>TCA366080277SYNE1c.1903G>A (p.Gly635Arg)
c.25369G>A (p.Gly8457Arg)
c.25225G>A (p.Gly8409Arg)
c.771G>A
c.1104G>A
c.1013G>A
c.1141G>A (p.Gly381Arg)
c.24154G>A (p.Gly8052Arg)
n.2117G>A
c.4204G>A (p.Gly1402Arg)
n.9061G>A
c.3307G>A (p.Gly1103Arg)
n.8953G>A
n.1983G>A
n.4391G>A
n.2206G>A
c.1834G>A (p.Gly612Arg)
c.25474G>A (p.Gly8492Arg)
c.25462G>A (p.Gly8488Arg)
c.25453G>A (p.Gly8485Arg)
c.25423G>A (p.Gly8475Arg)
c.25459G>A (p.Gly8487Arg)
c.25405G>A (p.Gly8469Arg)
c.25402G>A (p.Gly8468Arg)
c.25390G>A (p.Gly8464Arg)
c.25333G>A (p.Gly8445Arg)
c.25321G>A (p.Gly8441Arg)
c.25318G>A (p.Gly8440Arg)
c.25315G>A (p.Gly8439Arg)
c.25471G>A (p.Gly8491Arg)
c.25309G>A (p.Gly8437Arg)
c.23749G>A (p.Gly7917Arg)
c.23242G>A (p.Gly7748Arg)
c.18709G>A (p.Gly6237Arg)
c.1975G>A (p.Gly659Arg)
c.25447G>A (p.Gly8483Arg)
c.25396G>A (p.Gly8466Arg)
c.25249G>A (p.Gly8417Arg)
 gnomAD v4
6g.152140040C>ACA452969872SYNE1c.1902G>T (p.Leu634=)
c.25368G>T (p.Leu8456=)
c.25224G>T (p.Leu8408=)
c.770G>T
c.1103G>T
c.1012G>T
c.1140G>T (p.Leu380=)
c.24153G>T (p.Leu8051=)
n.2116G>T
c.4203G>T (p.Leu1401=)
n.9060G>T
c.3306G>T (p.Leu1102=)
n.8952G>T
n.1982G>T
n.4390G>T
n.2205G>T
c.1833G>T (p.Leu611=)
c.25473G>T (p.Leu8491=)
c.25461G>T (p.Leu8487=)
c.25452G>T (p.Leu8484=)
c.25422G>T (p.Leu8474=)
c.25458G>T (p.Leu8486=)
c.25404G>T (p.Leu8468=)
c.25401G>T (p.Leu8467=)
c.25389G>T (p.Leu8463=)
c.25332G>T (p.Leu8444=)
c.25320G>T (p.Leu8440=)
c.25317G>T (p.Leu8439=)
c.25314G>T (p.Leu8438=)
c.25470G>T (p.Leu8490=)
c.25308G>T (p.Leu8436=)
c.23748G>T (p.Leu7916=)
c.23241G>T (p.Leu7747=)
c.18708G>T (p.Leu6236=)
c.1974G>T (p.Leu658=)
c.25446G>T (p.Leu8482=)
c.25395G>T (p.Leu8465=)
c.25248G>T (p.Leu8416=)
6g.152140040C>GCA452969873SYNE1c.1902G>C (p.Leu634=)
c.25368G>C (p.Leu8456=)
c.25224G>C (p.Leu8408=)
c.770G>C
c.1103G>C
c.1012G>C
c.1140G>C (p.Leu380=)
c.24153G>C (p.Leu8051=)
n.2116G>C
c.4203G>C (p.Leu1401=)
n.9060G>C
c.3306G>C (p.Leu1102=)
n.8952G>C
n.1982G>C
n.4390G>C
n.2205G>C
c.1833G>C (p.Leu611=)
c.25473G>C (p.Leu8491=)
c.25461G>C (p.Leu8487=)
c.25452G>C (p.Leu8484=)
c.25422G>C (p.Leu8474=)
c.25458G>C (p.Leu8486=)
c.25404G>C (p.Leu8468=)
c.25401G>C (p.Leu8467=)
c.25389G>C (p.Leu8463=)
c.25332G>C (p.Leu8444=)
c.25320G>C (p.Leu8440=)
c.25317G>C (p.Leu8439=)
c.25314G>C (p.Leu8438=)
c.25470G>C (p.Leu8490=)
c.25308G>C (p.Leu8436=)
c.23748G>C (p.Leu7916=)
c.23241G>C (p.Leu7747=)
c.18708G>C (p.Leu6236=)
c.1974G>C (p.Leu658=)
c.25446G>C (p.Leu8482=)
c.25395G>C (p.Leu8465=)
c.25248G>C (p.Leu8416=)
6g.152140040C>TCA452969874SYNE1c.1902G>A (p.Leu634=)
c.25368G>A (p.Leu8456=)
c.25224G>A (p.Leu8408=)
c.770G>A
c.1103G>A
c.1012G>A
c.1140G>A (p.Leu380=)
c.24153G>A (p.Leu8051=)
n.2116G>A
c.4203G>A (p.Leu1401=)
n.9060G>A
c.3306G>A (p.Leu1102=)
n.8952G>A
n.1982G>A
n.4390G>A
n.2205G>A
c.1833G>A (p.Leu611=)
c.25473G>A (p.Leu8491=)
c.25461G>A (p.Leu8487=)
c.25452G>A (p.Leu8484=)
c.25422G>A (p.Leu8474=)
c.25458G>A (p.Leu8486=)
c.25404G>A (p.Leu8468=)
c.25401G>A (p.Leu8467=)
c.25389G>A (p.Leu8463=)
c.25332G>A (p.Leu8444=)
c.25320G>A (p.Leu8440=)
c.25317G>A (p.Leu8439=)
c.25314G>A (p.Leu8438=)
c.25470G>A (p.Leu8490=)
c.25308G>A (p.Leu8436=)
c.23748G>A (p.Leu7916=)
c.23241G>A (p.Leu7747=)
c.18708G>A (p.Leu6236=)
c.1974G>A (p.Leu658=)
c.25446G>A (p.Leu8482=)
c.25395G>A (p.Leu8465=)
c.25248G>A (p.Leu8416=)
6g.152140041A=CA1673206285SYNE1c.1901T= (p.Leu634=)
c.25367T= (p.Leu8456=)
c.25223T= (p.Leu8408=)
c.769T=
c.1102T=
c.1011T=
c.1139T= (p.Leu380=)
c.24152T= (p.Leu8051=)
n.2115T=
c.4202T= (p.Leu1401=)
n.9059T=
c.3305T= (p.Leu1102=)
n.8951T=
n.1981T=
n.4389T=
n.2204T=
c.1832T= (p.Leu611=)
c.25472T= (p.Leu8491=)
c.25460T= (p.Leu8487=)
c.25451T= (p.Leu8484=)
c.25421T= (p.Leu8474=)
c.25457T= (p.Leu8486=)
c.25403T= (p.Leu8468=)
c.25400T= (p.Leu8467=)
c.25388T= (p.Leu8463=)
c.25331T= (p.Leu8444=)
c.25319T= (p.Leu8440=)
c.25316T= (p.Leu8439=)
c.25313T= (p.Leu8438=)
c.25469T= (p.Leu8490=)
c.25307T= (p.Leu8436=)
c.23747T= (p.Leu7916=)
c.23240T= (p.Leu7747=)
c.18707T= (p.Leu6236=)
c.1973T= (p.Leu658=)
c.25445T= (p.Leu8482=)
c.25394T= (p.Leu8465=)
c.25247T= (p.Leu8416=)
6g.152140041A>CCA366080280SYNE1c.1901T>G (p.Leu634Arg)
c.25367T>G (p.Leu8456Arg)
c.25223T>G (p.Leu8408Arg)
c.769T>G
c.1102T>G
c.1011T>G
c.1139T>G (p.Leu380Arg)
c.24152T>G (p.Leu8051Arg)
n.2115T>G
c.4202T>G (p.Leu1401Arg)
n.9059T>G
c.3305T>G (p.Leu1102Arg)
n.8951T>G
n.1981T>G
n.4389T>G
n.2204T>G
c.1832T>G (p.Leu611Arg)
c.25472T>G (p.Leu8491Arg)
c.25460T>G (p.Leu8487Arg)
c.25451T>G (p.Leu8484Arg)
c.25421T>G (p.Leu8474Arg)
c.25457T>G (p.Leu8486Arg)
c.25403T>G (p.Leu8468Arg)
c.25400T>G (p.Leu8467Arg)
c.25388T>G (p.Leu8463Arg)
c.25331T>G (p.Leu8444Arg)
c.25319T>G (p.Leu8440Arg)
c.25316T>G (p.Leu8439Arg)
c.25313T>G (p.Leu8438Arg)
c.25469T>G (p.Leu8490Arg)
c.25307T>G (p.Leu8436Arg)
c.23747T>G (p.Leu7916Arg)
c.23240T>G (p.Leu7747Arg)
c.18707T>G (p.Leu6236Arg)
c.1973T>G (p.Leu658Arg)
c.25445T>G (p.Leu8482Arg)
c.25394T>G (p.Leu8465Arg)
c.25247T>G (p.Leu8416Arg)
6g.152140041A>GCA4052860SYNE1c.1901T>C (p.Leu634Pro)
c.25367T>C (p.Leu8456Pro)
c.25223T>C (p.Leu8408Pro)
c.769T>C
c.1102T>C
c.1011T>C
c.1139T>C (p.Leu380Pro)
c.24152T>C (p.Leu8051Pro)
n.2115T>C
c.4202T>C (p.Leu1401Pro)
n.9059T>C
c.3305T>C (p.Leu1102Pro)
n.8951T>C
n.1981T>C
n.4389T>C
n.2204T>C
c.1832T>C (p.Leu611Pro)
c.25472T>C (p.Leu8491Pro)
c.25460T>C (p.Leu8487Pro)
c.25451T>C (p.Leu8484Pro)
c.25421T>C (p.Leu8474Pro)
c.25457T>C (p.Leu8486Pro)
c.25403T>C (p.Leu8468Pro)
c.25400T>C (p.Leu8467Pro)
c.25388T>C (p.Leu8463Pro)
c.25331T>C (p.Leu8444Pro)
c.25319T>C (p.Leu8440Pro)
c.25316T>C (p.Leu8439Pro)
c.25313T>C (p.Leu8438Pro)
c.25469T>C (p.Leu8490Pro)
c.25307T>C (p.Leu8436Pro)
c.23747T>C (p.Leu7916Pro)
c.23240T>C (p.Leu7747Pro)
c.18707T>C (p.Leu6236Pro)
c.1973T>C (p.Leu658Pro)
c.25445T>C (p.Leu8482Pro)
c.25394T>C (p.Leu8465Pro)
c.25247T>C (p.Leu8416Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140041A>TCA366080284SYNE1c.1901T>A (p.Leu634Gln)
c.25367T>A (p.Leu8456Gln)
c.25223T>A (p.Leu8408Gln)
c.769T>A
c.1102T>A
c.1011T>A
c.1139T>A (p.Leu380Gln)
c.24152T>A (p.Leu8051Gln)
n.2115T>A
c.4202T>A (p.Leu1401Gln)
n.9059T>A
c.3305T>A (p.Leu1102Gln)
n.8951T>A
n.1981T>A
n.4389T>A
n.2204T>A
c.1832T>A (p.Leu611Gln)
c.25472T>A (p.Leu8491Gln)
c.25460T>A (p.Leu8487Gln)
c.25451T>A (p.Leu8484Gln)
c.25421T>A (p.Leu8474Gln)
c.25457T>A (p.Leu8486Gln)
c.25403T>A (p.Leu8468Gln)
c.25400T>A (p.Leu8467Gln)
c.25388T>A (p.Leu8463Gln)
c.25331T>A (p.Leu8444Gln)
c.25319T>A (p.Leu8440Gln)
c.25316T>A (p.Leu8439Gln)
c.25313T>A (p.Leu8438Gln)
c.25469T>A (p.Leu8490Gln)
c.25307T>A (p.Leu8436Gln)
c.23747T>A (p.Leu7916Gln)
c.23240T>A (p.Leu7747Gln)
c.18707T>A (p.Leu6236Gln)
c.1973T>A (p.Leu658Gln)
c.25445T>A (p.Leu8482Gln)
c.25394T>A (p.Leu8465Gln)
c.25247T>A (p.Leu8416Gln)
6g.152140042G>ACA4052861SYNE1c.1900C>T (p.Leu634=)
c.25366C>T (p.Leu8456=)
c.25222C>T (p.Leu8408=)
c.768C>T
c.1101C>T
c.1010C>T
c.1138C>T (p.Leu380=)
c.24151C>T (p.Leu8051=)
n.2114C>T
c.4201C>T (p.Leu1401=)
n.9058C>T
c.3304C>T (p.Leu1102=)
n.8950C>T
n.1980C>T
n.4388C>T
n.2203C>T
c.1831C>T (p.Leu611=)
c.25471C>T (p.Leu8491=)
c.25459C>T (p.Leu8487=)
c.25450C>T (p.Leu8484=)
c.25420C>T (p.Leu8474=)
c.25456C>T (p.Leu8486=)
c.25402C>T (p.Leu8468=)
c.25399C>T (p.Leu8467=)
c.25387C>T (p.Leu8463=)
c.25330C>T (p.Leu8444=)
c.25318C>T (p.Leu8440=)
c.25315C>T (p.Leu8439=)
c.25312C>T (p.Leu8438=)
c.25468C>T (p.Leu8490=)
c.25306C>T (p.Leu8436=)
c.23746C>T (p.Leu7916=)
c.23239C>T (p.Leu7747=)
c.18706C>T (p.Leu6236=)
c.1972C>T (p.Leu658=)
c.25444C>T (p.Leu8482=)
c.25393C>T (p.Leu8465=)
c.25246C>T (p.Leu8416=)
 dbSNP ExAC gnomAD v4
6g.152140042G>CCA366080289SYNE1c.1900C>G (p.Leu634Val)
c.25366C>G (p.Leu8456Val)
c.25222C>G (p.Leu8408Val)
c.768C>G
c.1101C>G
c.1010C>G
c.1138C>G (p.Leu380Val)
c.24151C>G (p.Leu8051Val)
n.2114C>G
c.4201C>G (p.Leu1401Val)
n.9058C>G
c.3304C>G (p.Leu1102Val)
n.8950C>G
n.1980C>G
n.4388C>G
n.2203C>G
c.1831C>G (p.Leu611Val)
c.25471C>G (p.Leu8491Val)
c.25459C>G (p.Leu8487Val)
c.25450C>G (p.Leu8484Val)
c.25420C>G (p.Leu8474Val)
c.25456C>G (p.Leu8486Val)
c.25402C>G (p.Leu8468Val)
c.25399C>G (p.Leu8467Val)
c.25387C>G (p.Leu8463Val)
c.25330C>G (p.Leu8444Val)
c.25318C>G (p.Leu8440Val)
c.25315C>G (p.Leu8439Val)
c.25312C>G (p.Leu8438Val)
c.25468C>G (p.Leu8490Val)
c.25306C>G (p.Leu8436Val)
c.23746C>G (p.Leu7916Val)
c.23239C>G (p.Leu7747Val)
c.18706C>G (p.Leu6236Val)
c.1972C>G (p.Leu658Val)
c.25444C>G (p.Leu8482Val)
c.25393C>G (p.Leu8465Val)
c.25246C>G (p.Leu8416Val)
6g.152140042G=CA1673206288SYNE1c.1900C= (p.Leu634=)
c.25366C= (p.Leu8456=)
c.25222C= (p.Leu8408=)
c.768C=
c.1101C=
c.1010C=
c.1138C= (p.Leu380=)
c.24151C= (p.Leu8051=)
n.2114C=
c.4201C= (p.Leu1401=)
n.9058C=
c.3304C= (p.Leu1102=)
n.8950C=
n.1980C=
n.4388C=
n.2203C=
c.1831C= (p.Leu611=)
c.25471C= (p.Leu8491=)
c.25459C= (p.Leu8487=)
c.25450C= (p.Leu8484=)
c.25420C= (p.Leu8474=)
c.25456C= (p.Leu8486=)
c.25402C= (p.Leu8468=)
c.25399C= (p.Leu8467=)
c.25387C= (p.Leu8463=)
c.25330C= (p.Leu8444=)
c.25318C= (p.Leu8440=)
c.25315C= (p.Leu8439=)
c.25312C= (p.Leu8438=)
c.25468C= (p.Leu8490=)
c.25306C= (p.Leu8436=)
c.23746C= (p.Leu7916=)
c.23239C= (p.Leu7747=)
c.18706C= (p.Leu6236=)
c.1972C= (p.Leu658=)
c.25444C= (p.Leu8482=)
c.25393C= (p.Leu8465=)
c.25246C= (p.Leu8416=)
6g.152140042G>TCA366080291SYNE1c.1900C>A (p.Leu634Met)
c.25366C>A (p.Leu8456Met)
c.25222C>A (p.Leu8408Met)
c.768C>A
c.1101C>A
c.1010C>A
c.1138C>A (p.Leu380Met)
c.24151C>A (p.Leu8051Met)
n.2114C>A
c.4201C>A (p.Leu1401Met)
n.9058C>A
c.3304C>A (p.Leu1102Met)
n.8950C>A
n.1980C>A
n.4388C>A
n.2203C>A
c.1831C>A (p.Leu611Met)
c.25471C>A (p.Leu8491Met)
c.25459C>A (p.Leu8487Met)
c.25450C>A (p.Leu8484Met)
c.25420C>A (p.Leu8474Met)
c.25456C>A (p.Leu8486Met)
c.25402C>A (p.Leu8468Met)
c.25399C>A (p.Leu8467Met)
c.25387C>A (p.Leu8463Met)
c.25330C>A (p.Leu8444Met)
c.25318C>A (p.Leu8440Met)
c.25315C>A (p.Leu8439Met)
c.25312C>A (p.Leu8438Met)
c.25468C>A (p.Leu8490Met)
c.25306C>A (p.Leu8436Met)
c.23746C>A (p.Leu7916Met)
c.23239C>A (p.Leu7747Met)
c.18706C>A (p.Leu6236Met)
c.1972C>A (p.Leu658Met)
c.25444C>A (p.Leu8482Met)
c.25393C>A (p.Leu8465Met)
c.25246C>A (p.Leu8416Met)
6g.152140043C>ACA366080294SYNE1c.1899G>T (p.Trp633Cys)
c.25365G>T (p.Trp8455Cys)
c.25221G>T (p.Trp8407Cys)
c.767G>T
c.1100G>T
c.1009G>T
c.1137G>T (p.Trp379Cys)
c.24150G>T (p.Trp8050Cys)
n.2113G>T
c.4200G>T (p.Trp1400Cys)
n.9057G>T
c.3303G>T (p.Trp1101Cys)
n.8949G>T
n.1979G>T
n.4387G>T
n.2202G>T
c.1830G>T (p.Trp610Cys)
c.25470G>T (p.Trp8490Cys)
c.25458G>T (p.Trp8486Cys)
c.25449G>T (p.Trp8483Cys)
c.25419G>T (p.Trp8473Cys)
c.25455G>T (p.Trp8485Cys)
c.25401G>T (p.Trp8467Cys)
c.25398G>T (p.Trp8466Cys)
c.25386G>T (p.Trp8462Cys)
c.25329G>T (p.Trp8443Cys)
c.25317G>T (p.Trp8439Cys)
c.25314G>T (p.Trp8438Cys)
c.25311G>T (p.Trp8437Cys)
c.25467G>T (p.Trp8489Cys)
c.25305G>T (p.Trp8435Cys)
c.23745G>T (p.Trp7915Cys)
c.23238G>T (p.Trp7746Cys)
c.18705G>T (p.Trp6235Cys)
c.1971G>T (p.Trp657Cys)
c.25443G>T (p.Trp8481Cys)
c.25392G>T (p.Trp8464Cys)
c.25245G>T (p.Trp8415Cys)
6g.152140043C>GCA366080298SYNE1c.1899G>C (p.Trp633Cys)
c.25365G>C (p.Trp8455Cys)
c.25221G>C (p.Trp8407Cys)
c.767G>C
c.1100G>C
c.1009G>C
c.1137G>C (p.Trp379Cys)
c.24150G>C (p.Trp8050Cys)
n.2113G>C
c.4200G>C (p.Trp1400Cys)
n.9057G>C
c.3303G>C (p.Trp1101Cys)
n.8949G>C
n.1979G>C
n.4387G>C
n.2202G>C
c.1830G>C (p.Trp610Cys)
c.25470G>C (p.Trp8490Cys)
c.25458G>C (p.Trp8486Cys)
c.25449G>C (p.Trp8483Cys)
c.25419G>C (p.Trp8473Cys)
c.25455G>C (p.Trp8485Cys)
c.25401G>C (p.Trp8467Cys)
c.25398G>C (p.Trp8466Cys)
c.25386G>C (p.Trp8462Cys)
c.25329G>C (p.Trp8443Cys)
c.25317G>C (p.Trp8439Cys)
c.25314G>C (p.Trp8438Cys)
c.25311G>C (p.Trp8437Cys)
c.25467G>C (p.Trp8489Cys)
c.25305G>C (p.Trp8435Cys)
c.23745G>C (p.Trp7915Cys)
c.23238G>C (p.Trp7746Cys)
c.18705G>C (p.Trp6235Cys)
c.1971G>C (p.Trp657Cys)
c.25443G>C (p.Trp8481Cys)
c.25392G>C (p.Trp8464Cys)
c.25245G>C (p.Trp8415Cys)
6g.152140043C>TCA366080296SYNE1c.1899G>A (p.Trp633Ter)
c.25365G>A (p.Trp8455Ter)
c.25221G>A (p.Trp8407Ter)
c.767G>A
c.1100G>A
c.1009G>A
c.1137G>A (p.Trp379Ter)
c.24150G>A (p.Trp8050Ter)
n.2113G>A
c.4200G>A (p.Trp1400Ter)
n.9057G>A
c.3303G>A (p.Trp1101Ter)
n.8949G>A
n.1979G>A
n.4387G>A
n.2202G>A
c.1830G>A (p.Trp610Ter)
c.25470G>A (p.Trp8490Ter)
c.25458G>A (p.Trp8486Ter)
c.25449G>A (p.Trp8483Ter)
c.25419G>A (p.Trp8473Ter)
c.25455G>A (p.Trp8485Ter)
c.25401G>A (p.Trp8467Ter)
c.25398G>A (p.Trp8466Ter)
c.25386G>A (p.Trp8462Ter)
c.25329G>A (p.Trp8443Ter)
c.25317G>A (p.Trp8439Ter)
c.25314G>A (p.Trp8438Ter)
c.25311G>A (p.Trp8437Ter)
c.25467G>A (p.Trp8489Ter)
c.25305G>A (p.Trp8435Ter)
c.23745G>A (p.Trp7915Ter)
c.23238G>A (p.Trp7746Ter)
c.18705G>A (p.Trp6235Ter)
c.1971G>A (p.Trp657Ter)
c.25443G>A (p.Trp8481Ter)
c.25392G>A (p.Trp8464Ter)
c.25245G>A (p.Trp8415Ter)
 gnomAD v4
6g.152140044C>ACA366080301SYNE1c.1898G>T (p.Trp633Leu)
c.25364G>T (p.Trp8455Leu)
c.25220G>T (p.Trp8407Leu)
c.766G>T
c.1099G>T
c.1008G>T
c.1136G>T (p.Trp379Leu)
c.24149G>T (p.Trp8050Leu)
n.2112G>T
c.4199G>T (p.Trp1400Leu)
n.9056G>T
c.3302G>T (p.Trp1101Leu)
n.8948G>T
n.1978G>T
n.4386G>T
n.2201G>T
c.1829G>T (p.Trp610Leu)
c.25469G>T (p.Trp8490Leu)
c.25457G>T (p.Trp8486Leu)
c.25448G>T (p.Trp8483Leu)
c.25418G>T (p.Trp8473Leu)
c.25454G>T (p.Trp8485Leu)
c.25400G>T (p.Trp8467Leu)
c.25397G>T (p.Trp8466Leu)
c.25385G>T (p.Trp8462Leu)
c.25328G>T (p.Trp8443Leu)
c.25316G>T (p.Trp8439Leu)
c.25313G>T (p.Trp8438Leu)
c.25310G>T (p.Trp8437Leu)
c.25466G>T (p.Trp8489Leu)
c.25304G>T (p.Trp8435Leu)
c.23744G>T (p.Trp7915Leu)
c.23237G>T (p.Trp7746Leu)
c.18704G>T (p.Trp6235Leu)
c.1970G>T (p.Trp657Leu)
c.25442G>T (p.Trp8481Leu)
c.25391G>T (p.Trp8464Leu)
c.25244G>T (p.Trp8415Leu)
6g.152140044C>GCA366080306SYNE1c.1898G>C (p.Trp633Ser)
c.25364G>C (p.Trp8455Ser)
c.25220G>C (p.Trp8407Ser)
c.766G>C
c.1099G>C
c.1008G>C
c.1136G>C (p.Trp379Ser)
c.24149G>C (p.Trp8050Ser)
n.2112G>C
c.4199G>C (p.Trp1400Ser)
n.9056G>C
c.3302G>C (p.Trp1101Ser)
n.8948G>C
n.1978G>C
n.4386G>C
n.2201G>C
c.1829G>C (p.Trp610Ser)
c.25469G>C (p.Trp8490Ser)
c.25457G>C (p.Trp8486Ser)
c.25448G>C (p.Trp8483Ser)
c.25418G>C (p.Trp8473Ser)
c.25454G>C (p.Trp8485Ser)
c.25400G>C (p.Trp8467Ser)
c.25397G>C (p.Trp8466Ser)
c.25385G>C (p.Trp8462Ser)
c.25328G>C (p.Trp8443Ser)
c.25316G>C (p.Trp8439Ser)
c.25313G>C (p.Trp8438Ser)
c.25310G>C (p.Trp8437Ser)
c.25466G>C (p.Trp8489Ser)
c.25304G>C (p.Trp8435Ser)
c.23744G>C (p.Trp7915Ser)
c.23237G>C (p.Trp7746Ser)
c.18704G>C (p.Trp6235Ser)
c.1970G>C (p.Trp657Ser)
c.25442G>C (p.Trp8481Ser)
c.25391G>C (p.Trp8464Ser)
c.25244G>C (p.Trp8415Ser)
6g.152140044C>TCA366080304SYNE1c.1898G>A (p.Trp633Ter)
c.25364G>A (p.Trp8455Ter)
c.25220G>A (p.Trp8407Ter)
c.766G>A
c.1099G>A
c.1008G>A
c.1136G>A (p.Trp379Ter)
c.24149G>A (p.Trp8050Ter)
n.2112G>A
c.4199G>A (p.Trp1400Ter)
n.9056G>A
c.3302G>A (p.Trp1101Ter)
n.8948G>A
n.1978G>A
n.4386G>A
n.2201G>A
c.1829G>A (p.Trp610Ter)
c.25469G>A (p.Trp8490Ter)
c.25457G>A (p.Trp8486Ter)
c.25448G>A (p.Trp8483Ter)
c.25418G>A (p.Trp8473Ter)
c.25454G>A (p.Trp8485Ter)
c.25400G>A (p.Trp8467Ter)
c.25397G>A (p.Trp8466Ter)
c.25385G>A (p.Trp8462Ter)
c.25328G>A (p.Trp8443Ter)
c.25316G>A (p.Trp8439Ter)
c.25313G>A (p.Trp8438Ter)
c.25310G>A (p.Trp8437Ter)
c.25466G>A (p.Trp8489Ter)
c.25304G>A (p.Trp8435Ter)
c.23744G>A (p.Trp7915Ter)
c.23237G>A (p.Trp7746Ter)
c.18704G>A (p.Trp6235Ter)
c.1970G>A (p.Trp657Ter)
c.25442G>A (p.Trp8481Ter)
c.25391G>A (p.Trp8464Ter)
c.25244G>A (p.Trp8415Ter)
6g.152140045A>CCA366080309SYNE1c.1897T>G (p.Trp633Gly)
c.25363T>G (p.Trp8455Gly)
c.25219T>G (p.Trp8407Gly)
c.765T>G
c.1098T>G
c.1007T>G
c.1135T>G (p.Trp379Gly)
c.24148T>G (p.Trp8050Gly)
n.2111T>G
c.4198T>G (p.Trp1400Gly)
n.9055T>G
c.3301T>G (p.Trp1101Gly)
n.8947T>G
n.1977T>G
n.4385T>G
n.2200T>G
c.1828T>G (p.Trp610Gly)
c.25468T>G (p.Trp8490Gly)
c.25456T>G (p.Trp8486Gly)
c.25447T>G (p.Trp8483Gly)
c.25417T>G (p.Trp8473Gly)
c.25453T>G (p.Trp8485Gly)
c.25399T>G (p.Trp8467Gly)
c.25396T>G (p.Trp8466Gly)
c.25384T>G (p.Trp8462Gly)
c.25327T>G (p.Trp8443Gly)
c.25315T>G (p.Trp8439Gly)
c.25312T>G (p.Trp8438Gly)
c.25309T>G (p.Trp8437Gly)
c.25465T>G (p.Trp8489Gly)
c.25303T>G (p.Trp8435Gly)
c.23743T>G (p.Trp7915Gly)
c.23236T>G (p.Trp7746Gly)
c.18703T>G (p.Trp6235Gly)
c.1969T>G (p.Trp657Gly)
c.25441T>G (p.Trp8481Gly)
c.25390T>G (p.Trp8464Gly)
c.25243T>G (p.Trp8415Gly)
6g.152140045A>GCA366080311SYNE1c.1897T>C (p.Trp633Arg)
c.25363T>C (p.Trp8455Arg)
c.25219T>C (p.Trp8407Arg)
c.765T>C
c.1098T>C
c.1007T>C
c.1135T>C (p.Trp379Arg)
c.24148T>C (p.Trp8050Arg)
n.2111T>C
c.4198T>C (p.Trp1400Arg)
n.9055T>C
c.3301T>C (p.Trp1101Arg)
n.8947T>C
n.1977T>C
n.4385T>C
n.2200T>C
c.1828T>C (p.Trp610Arg)
c.25468T>C (p.Trp8490Arg)
c.25456T>C (p.Trp8486Arg)
c.25447T>C (p.Trp8483Arg)
c.25417T>C (p.Trp8473Arg)
c.25453T>C (p.Trp8485Arg)
c.25399T>C (p.Trp8467Arg)
c.25396T>C (p.Trp8466Arg)
c.25384T>C (p.Trp8462Arg)
c.25327T>C (p.Trp8443Arg)
c.25315T>C (p.Trp8439Arg)
c.25312T>C (p.Trp8438Arg)
c.25309T>C (p.Trp8437Arg)
c.25465T>C (p.Trp8489Arg)
c.25303T>C (p.Trp8435Arg)
c.23743T>C (p.Trp7915Arg)
c.23236T>C (p.Trp7746Arg)
c.18703T>C (p.Trp6235Arg)
c.1969T>C (p.Trp657Arg)
c.25441T>C (p.Trp8481Arg)
c.25390T>C (p.Trp8464Arg)
c.25243T>C (p.Trp8415Arg)
6g.152140045A>TCA366080313SYNE1c.1897T>A (p.Trp633Arg)
c.25363T>A (p.Trp8455Arg)
c.25219T>A (p.Trp8407Arg)
c.765T>A
c.1098T>A
c.1007T>A
c.1135T>A (p.Trp379Arg)
c.24148T>A (p.Trp8050Arg)
n.2111T>A
c.4198T>A (p.Trp1400Arg)
n.9055T>A
c.3301T>A (p.Trp1101Arg)
n.8947T>A
n.1977T>A
n.4385T>A
n.2200T>A
c.1828T>A (p.Trp610Arg)
c.25468T>A (p.Trp8490Arg)
c.25456T>A (p.Trp8486Arg)
c.25447T>A (p.Trp8483Arg)
c.25417T>A (p.Trp8473Arg)
c.25453T>A (p.Trp8485Arg)
c.25399T>A (p.Trp8467Arg)
c.25396T>A (p.Trp8466Arg)
c.25384T>A (p.Trp8462Arg)
c.25327T>A (p.Trp8443Arg)
c.25315T>A (p.Trp8439Arg)
c.25312T>A (p.Trp8438Arg)
c.25309T>A (p.Trp8437Arg)
c.25465T>A (p.Trp8489Arg)
c.25303T>A (p.Trp8435Arg)
c.23743T>A (p.Trp7915Arg)
c.23236T>A (p.Trp7746Arg)
c.18703T>A (p.Trp6235Arg)
c.1969T>A (p.Trp657Arg)
c.25441T>A (p.Trp8481Arg)
c.25390T>A (p.Trp8464Arg)
c.25243T>A (p.Trp8415Arg)
6g.152140046G>ACA4052862SYNE1c.1896C>T (p.Ala632=)
c.25362C>T (p.Ala8454=)
c.25218C>T (p.Ala8406=)
c.764C>T
c.1097C>T
c.1006C>T
c.1134C>T (p.Ala378=)
c.24147C>T (p.Ala8049=)
n.2110C>T
c.4197C>T (p.Ala1399=)
n.9054C>T
c.3300C>T (p.Ala1100=)
n.8946C>T
n.1976C>T
n.4384C>T
n.2199C>T
c.1827C>T (p.Ala609=)
c.25467C>T (p.Ala8489=)
c.25455C>T (p.Ala8485=)
c.25446C>T (p.Ala8482=)
c.25416C>T (p.Ala8472=)
c.25452C>T (p.Ala8484=)
c.25398C>T (p.Ala8466=)
c.25395C>T (p.Ala8465=)
c.25383C>T (p.Ala8461=)
c.25326C>T (p.Ala8442=)
c.25314C>T (p.Ala8438=)
c.25311C>T (p.Ala8437=)
c.25308C>T (p.Ala8436=)
c.25464C>T (p.Ala8488=)
c.25302C>T (p.Ala8434=)
c.23742C>T (p.Ala7914=)
c.23235C>T (p.Ala7745=)
c.18702C>T (p.Ala6234=)
c.1968C>T (p.Ala656=)
c.25440C>T (p.Ala8480=)
c.25389C>T (p.Ala8463=)
c.25242C>T (p.Ala8414=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140046G>CCA452969879SYNE1c.1896C>G (p.Ala632=)
c.25362C>G (p.Ala8454=)
c.25218C>G (p.Ala8406=)
c.764C>G
c.1097C>G
c.1006C>G
c.1134C>G (p.Ala378=)
c.24147C>G (p.Ala8049=)
n.2110C>G
c.4197C>G (p.Ala1399=)
n.9054C>G
c.3300C>G (p.Ala1100=)
n.8946C>G
n.1976C>G
n.4384C>G
n.2199C>G
c.1827C>G (p.Ala609=)
c.25467C>G (p.Ala8489=)
c.25455C>G (p.Ala8485=)
c.25446C>G (p.Ala8482=)
c.25416C>G (p.Ala8472=)
c.25452C>G (p.Ala8484=)
c.25398C>G (p.Ala8466=)
c.25395C>G (p.Ala8465=)
c.25383C>G (p.Ala8461=)
c.25326C>G (p.Ala8442=)
c.25314C>G (p.Ala8438=)
c.25311C>G (p.Ala8437=)
c.25308C>G (p.Ala8436=)
c.25464C>G (p.Ala8488=)
c.25302C>G (p.Ala8434=)
c.23742C>G (p.Ala7914=)
c.23235C>G (p.Ala7745=)
c.18702C>G (p.Ala6234=)
c.1968C>G (p.Ala656=)
c.25440C>G (p.Ala8480=)
c.25389C>G (p.Ala8463=)
c.25242C>G (p.Ala8414=)
6g.152140046G=CA1673206292SYNE1c.1896C= (p.Ala632=)
c.25362C= (p.Ala8454=)
c.25218C= (p.Ala8406=)
c.764C=
c.1097C=
c.1006C=
c.1134C= (p.Ala378=)
c.24147C= (p.Ala8049=)
n.2110C=
c.4197C= (p.Ala1399=)
n.9054C=
c.3300C= (p.Ala1100=)
n.8946C=
n.1976C=
n.4384C=
n.2199C=
c.1827C= (p.Ala609=)
c.25467C= (p.Ala8489=)
c.25455C= (p.Ala8485=)
c.25446C= (p.Ala8482=)
c.25416C= (p.Ala8472=)
c.25452C= (p.Ala8484=)
c.25398C= (p.Ala8466=)
c.25395C= (p.Ala8465=)
c.25383C= (p.Ala8461=)
c.25326C= (p.Ala8442=)
c.25314C= (p.Ala8438=)
c.25311C= (p.Ala8437=)
c.25308C= (p.Ala8436=)
c.25464C= (p.Ala8488=)
c.25302C= (p.Ala8434=)
c.23742C= (p.Ala7914=)
c.23235C= (p.Ala7745=)
c.18702C= (p.Ala6234=)
c.1968C= (p.Ala656=)
c.25440C= (p.Ala8480=)
c.25389C= (p.Ala8463=)
c.25242C= (p.Ala8414=)
6g.152140046G>TCA452969880SYNE1c.1896C>A (p.Ala632=)
c.25362C>A (p.Ala8454=)
c.25218C>A (p.Ala8406=)
c.764C>A
c.1097C>A
c.1006C>A
c.1134C>A (p.Ala378=)
c.24147C>A (p.Ala8049=)
n.2110C>A
c.4197C>A (p.Ala1399=)
n.9054C>A
c.3300C>A (p.Ala1100=)
n.8946C>A
n.1976C>A
n.4384C>A
n.2199C>A
c.1827C>A (p.Ala609=)
c.25467C>A (p.Ala8489=)
c.25455C>A (p.Ala8485=)
c.25446C>A (p.Ala8482=)
c.25416C>A (p.Ala8472=)
c.25452C>A (p.Ala8484=)
c.25398C>A (p.Ala8466=)
c.25395C>A (p.Ala8465=)
c.25383C>A (p.Ala8461=)
c.25326C>A (p.Ala8442=)
c.25314C>A (p.Ala8438=)
c.25311C>A (p.Ala8437=)
c.25308C>A (p.Ala8436=)
c.25464C>A (p.Ala8488=)
c.25302C>A (p.Ala8434=)
c.23742C>A (p.Ala7914=)
c.23235C>A (p.Ala7745=)
c.18702C>A (p.Ala6234=)
c.1968C>A (p.Ala656=)
c.25440C>A (p.Ala8480=)
c.25389C>A (p.Ala8463=)
c.25242C>A (p.Ala8414=)
6g.152140047G>ACA366080318SYNE1c.1895C>T (p.Ala632Val)
c.25361C>T (p.Ala8454Val)
c.25217C>T (p.Ala8406Val)
c.763C>T
c.1096C>T
c.1005C>T
c.1133C>T (p.Ala378Val)
c.24146C>T (p.Ala8049Val)
n.2109C>T
c.4196C>T (p.Ala1399Val)
n.9053C>T
c.3299C>T (p.Ala1100Val)
n.8945C>T
n.1975C>T
n.4383C>T
n.2198C>T
c.1826C>T (p.Ala609Val)
c.25466C>T (p.Ala8489Val)
c.25454C>T (p.Ala8485Val)
c.25445C>T (p.Ala8482Val)
c.25415C>T (p.Ala8472Val)
c.25451C>T (p.Ala8484Val)
c.25397C>T (p.Ala8466Val)
c.25394C>T (p.Ala8465Val)
c.25382C>T (p.Ala8461Val)
c.25325C>T (p.Ala8442Val)
c.25313C>T (p.Ala8438Val)
c.25310C>T (p.Ala8437Val)
c.25307C>T (p.Ala8436Val)
c.25463C>T (p.Ala8488Val)
c.25301C>T (p.Ala8434Val)
c.23741C>T (p.Ala7914Val)
c.23234C>T (p.Ala7745Val)
c.18701C>T (p.Ala6234Val)
c.1967C>T (p.Ala656Val)
c.25439C>T (p.Ala8480Val)
c.25388C>T (p.Ala8463Val)
c.25241C>T (p.Ala8414Val)
6g.152140047G>CCA366080319SYNE1c.1895C>G (p.Ala632Gly)
c.25361C>G (p.Ala8454Gly)
c.25217C>G (p.Ala8406Gly)
c.763C>G
c.1096C>G
c.1005C>G
c.1133C>G (p.Ala378Gly)
c.24146C>G (p.Ala8049Gly)
n.2109C>G
c.4196C>G (p.Ala1399Gly)
n.9053C>G
c.3299C>G (p.Ala1100Gly)
n.8945C>G
n.1975C>G
n.4383C>G
n.2198C>G
c.1826C>G (p.Ala609Gly)
c.25466C>G (p.Ala8489Gly)
c.25454C>G (p.Ala8485Gly)
c.25445C>G (p.Ala8482Gly)
c.25415C>G (p.Ala8472Gly)
c.25451C>G (p.Ala8484Gly)
c.25397C>G (p.Ala8466Gly)
c.25394C>G (p.Ala8465Gly)
c.25382C>G (p.Ala8461Gly)
c.25325C>G (p.Ala8442Gly)
c.25313C>G (p.Ala8438Gly)
c.25310C>G (p.Ala8437Gly)
c.25307C>G (p.Ala8436Gly)
c.25463C>G (p.Ala8488Gly)
c.25301C>G (p.Ala8434Gly)
c.23741C>G (p.Ala7914Gly)
c.23234C>G (p.Ala7745Gly)
c.18701C>G (p.Ala6234Gly)
c.1967C>G (p.Ala656Gly)
c.25439C>G (p.Ala8480Gly)
c.25388C>G (p.Ala8463Gly)
c.25241C>G (p.Ala8414Gly)
6g.152140047G>TCA366080321SYNE1c.1895C>A (p.Ala632Asp)
c.25361C>A (p.Ala8454Asp)
c.25217C>A (p.Ala8406Asp)
c.763C>A
c.1096C>A
c.1005C>A
c.1133C>A (p.Ala378Asp)
c.24146C>A (p.Ala8049Asp)
n.2109C>A
c.4196C>A (p.Ala1399Asp)
n.9053C>A
c.3299C>A (p.Ala1100Asp)
n.8945C>A
n.1975C>A
n.4383C>A
n.2198C>A
c.1826C>A (p.Ala609Asp)
c.25466C>A (p.Ala8489Asp)
c.25454C>A (p.Ala8485Asp)
c.25445C>A (p.Ala8482Asp)
c.25415C>A (p.Ala8472Asp)
c.25451C>A (p.Ala8484Asp)
c.25397C>A (p.Ala8466Asp)
c.25394C>A (p.Ala8465Asp)
c.25382C>A (p.Ala8461Asp)
c.25325C>A (p.Ala8442Asp)
c.25313C>A (p.Ala8438Asp)
c.25310C>A (p.Ala8437Asp)
c.25307C>A (p.Ala8436Asp)
c.25463C>A (p.Ala8488Asp)
c.25301C>A (p.Ala8434Asp)
c.23741C>A (p.Ala7914Asp)
c.23234C>A (p.Ala7745Asp)
c.18701C>A (p.Ala6234Asp)
c.1967C>A (p.Ala656Asp)
c.25439C>A (p.Ala8480Asp)
c.25388C>A (p.Ala8463Asp)
c.25241C>A (p.Ala8414Asp)
6g.152140048C>ACA366080322SYNE1c.1894G>T (p.Ala632Ser)
c.25360G>T (p.Ala8454Ser)
c.25216G>T (p.Ala8406Ser)
c.762G>T
c.1095G>T
c.1004G>T
c.1132G>T (p.Ala378Ser)
c.24145G>T (p.Ala8049Ser)
n.2108G>T
c.4195G>T (p.Ala1399Ser)
n.9052G>T
c.3298G>T (p.Ala1100Ser)
n.8944G>T
n.1974G>T
n.4382G>T
n.2197G>T
c.1825G>T (p.Ala609Ser)
c.25465G>T (p.Ala8489Ser)
c.25453G>T (p.Ala8485Ser)
c.25444G>T (p.Ala8482Ser)
c.25414G>T (p.Ala8472Ser)
c.25450G>T (p.Ala8484Ser)
c.25396G>T (p.Ala8466Ser)
c.25393G>T (p.Ala8465Ser)
c.25381G>T (p.Ala8461Ser)
c.25324G>T (p.Ala8442Ser)
c.25312G>T (p.Ala8438Ser)
c.25309G>T (p.Ala8437Ser)
c.25306G>T (p.Ala8436Ser)
c.25462G>T (p.Ala8488Ser)
c.25300G>T (p.Ala8434Ser)
c.23740G>T (p.Ala7914Ser)
c.23233G>T (p.Ala7745Ser)
c.18700G>T (p.Ala6234Ser)
c.1966G>T (p.Ala656Ser)
c.25438G>T (p.Ala8480Ser)
c.25387G>T (p.Ala8463Ser)
c.25240G>T (p.Ala8414Ser)
6g.152140048C=CA1673206295SYNE1c.1894G= (p.Ala632=)
c.25360G= (p.Ala8454=)
c.25216G= (p.Ala8406=)
c.762G=
c.1095G=
c.1004G=
c.1132G= (p.Ala378=)
c.24145G= (p.Ala8049=)
n.2108G=
c.4195G= (p.Ala1399=)
n.9052G=
c.3298G= (p.Ala1100=)
n.8944G=
n.1974G=
n.4382G=
n.2197G=
c.1825G= (p.Ala609=)
c.25465G= (p.Ala8489=)
c.25453G= (p.Ala8485=)
c.25444G= (p.Ala8482=)
c.25414G= (p.Ala8472=)
c.25450G= (p.Ala8484=)
c.25396G= (p.Ala8466=)
c.25393G= (p.Ala8465=)
c.25381G= (p.Ala8461=)
c.25324G= (p.Ala8442=)
c.25312G= (p.Ala8438=)
c.25309G= (p.Ala8437=)
c.25306G= (p.Ala8436=)
c.25462G= (p.Ala8488=)
c.25300G= (p.Ala8434=)
c.23740G= (p.Ala7914=)
c.23233G= (p.Ala7745=)
c.18700G= (p.Ala6234=)
c.1966G= (p.Ala656=)
c.25438G= (p.Ala8480=)
c.25387G= (p.Ala8463=)
c.25240G= (p.Ala8414=)
6g.152140048C>GCA366080324SYNE1c.1894G>C (p.Ala632Pro)
c.25360G>C (p.Ala8454Pro)
c.25216G>C (p.Ala8406Pro)
c.762G>C
c.1095G>C
c.1004G>C
c.1132G>C (p.Ala378Pro)
c.24145G>C (p.Ala8049Pro)
n.2108G>C
c.4195G>C (p.Ala1399Pro)
n.9052G>C
c.3298G>C (p.Ala1100Pro)
n.8944G>C
n.1974G>C
n.4382G>C
n.2197G>C
c.1825G>C (p.Ala609Pro)
c.25465G>C (p.Ala8489Pro)
c.25453G>C (p.Ala8485Pro)
c.25444G>C (p.Ala8482Pro)
c.25414G>C (p.Ala8472Pro)
c.25450G>C (p.Ala8484Pro)
c.25396G>C (p.Ala8466Pro)
c.25393G>C (p.Ala8465Pro)
c.25381G>C (p.Ala8461Pro)
c.25324G>C (p.Ala8442Pro)
c.25312G>C (p.Ala8438Pro)
c.25309G>C (p.Ala8437Pro)
c.25306G>C (p.Ala8436Pro)
c.25462G>C (p.Ala8488Pro)
c.25300G>C (p.Ala8434Pro)
c.23740G>C (p.Ala7914Pro)
c.23233G>C (p.Ala7745Pro)
c.18700G>C (p.Ala6234Pro)
c.1966G>C (p.Ala656Pro)
c.25438G>C (p.Ala8480Pro)
c.25387G>C (p.Ala8463Pro)
c.25240G>C (p.Ala8414Pro)
6g.152140048C>TCA366080327SYNE1c.1894G>A (p.Ala632Thr)
c.25360G>A (p.Ala8454Thr)
c.25216G>A (p.Ala8406Thr)
c.762G>A
c.1095G>A
c.1004G>A
c.1132G>A (p.Ala378Thr)
c.24145G>A (p.Ala8049Thr)
n.2108G>A
c.4195G>A (p.Ala1399Thr)
n.9052G>A
c.3298G>A (p.Ala1100Thr)
n.8944G>A
n.1974G>A
n.4382G>A
n.2197G>A
c.1825G>A (p.Ala609Thr)
c.25465G>A (p.Ala8489Thr)
c.25453G>A (p.Ala8485Thr)
c.25444G>A (p.Ala8482Thr)
c.25414G>A (p.Ala8472Thr)
c.25450G>A (p.Ala8484Thr)
c.25396G>A (p.Ala8466Thr)
c.25393G>A (p.Ala8465Thr)
c.25381G>A (p.Ala8461Thr)
c.25324G>A (p.Ala8442Thr)
c.25312G>A (p.Ala8438Thr)
c.25309G>A (p.Ala8437Thr)
c.25306G>A (p.Ala8436Thr)
c.25462G>A (p.Ala8488Thr)
c.25300G>A (p.Ala8434Thr)
c.23740G>A (p.Ala7914Thr)
c.23233G>A (p.Ala7745Thr)
c.18700G>A (p.Ala6234Thr)
c.1966G>A (p.Ala656Thr)
c.25438G>A (p.Ala8480Thr)
c.25387G>A (p.Ala8463Thr)
c.25240G>A (p.Ala8414Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140049C>ACA366080333SYNE1c.1893G>T (p.Trp631Cys)
c.25359G>T (p.Trp8453Cys)
c.25215G>T (p.Trp8405Cys)
c.761G>T
c.1094G>T
c.1003G>T
c.1131G>T (p.Trp377Cys)
c.24144G>T (p.Trp8048Cys)
n.2107G>T
c.4194G>T (p.Trp1398Cys)
n.9051G>T
c.3297G>T (p.Trp1099Cys)
n.8943G>T
n.1973G>T
n.4381G>T
n.2196G>T
c.1824G>T (p.Trp608Cys)
c.25464G>T (p.Trp8488Cys)
c.25452G>T (p.Trp8484Cys)
c.25443G>T (p.Trp8481Cys)
c.25413G>T (p.Trp8471Cys)
c.25449G>T (p.Trp8483Cys)
c.25395G>T (p.Trp8465Cys)
c.25392G>T (p.Trp8464Cys)
c.25380G>T (p.Trp8460Cys)
c.25323G>T (p.Trp8441Cys)
c.25311G>T (p.Trp8437Cys)
c.25308G>T (p.Trp8436Cys)
c.25305G>T (p.Trp8435Cys)
c.25461G>T (p.Trp8487Cys)
c.25299G>T (p.Trp8433Cys)
c.23739G>T (p.Trp7913Cys)
c.23232G>T (p.Trp7744Cys)
c.18699G>T (p.Trp6233Cys)
c.1965G>T (p.Trp655Cys)
c.25437G>T (p.Trp8479Cys)
c.25386G>T (p.Trp8462Cys)
c.25239G>T (p.Trp8413Cys)
6g.152140049C=CA1673206299SYNE1c.1893G= (p.Trp631=)
c.25359G= (p.Trp8453=)
c.25215G= (p.Trp8405=)
c.761G=
c.1094G=
c.1003G=
c.1131G= (p.Trp377=)
c.24144G= (p.Trp8048=)
n.2107G=
c.4194G= (p.Trp1398=)
n.9051G=
c.3297G= (p.Trp1099=)
n.8943G=
n.1973G=
n.4381G=
n.2196G=
c.1824G= (p.Trp608=)
c.25464G= (p.Trp8488=)
c.25452G= (p.Trp8484=)
c.25443G= (p.Trp8481=)
c.25413G= (p.Trp8471=)
c.25449G= (p.Trp8483=)
c.25395G= (p.Trp8465=)
c.25392G= (p.Trp8464=)
c.25380G= (p.Trp8460=)
c.25323G= (p.Trp8441=)
c.25311G= (p.Trp8437=)
c.25308G= (p.Trp8436=)
c.25305G= (p.Trp8435=)
c.25461G= (p.Trp8487=)
c.25299G= (p.Trp8433=)
c.23739G= (p.Trp7913=)
c.23232G= (p.Trp7744=)
c.18699G= (p.Trp6233=)
c.1965G= (p.Trp655=)
c.25437G= (p.Trp8479=)
c.25386G= (p.Trp8462=)
c.25239G= (p.Trp8413=)
6g.152140049C>GCA366080329SYNE1c.1893G>C (p.Trp631Cys)
c.25359G>C (p.Trp8453Cys)
c.25215G>C (p.Trp8405Cys)
c.761G>C
c.1094G>C
c.1003G>C
c.1131G>C (p.Trp377Cys)
c.24144G>C (p.Trp8048Cys)
n.2107G>C
c.4194G>C (p.Trp1398Cys)
n.9051G>C
c.3297G>C (p.Trp1099Cys)
n.8943G>C
n.1973G>C
n.4381G>C
n.2196G>C
c.1824G>C (p.Trp608Cys)
c.25464G>C (p.Trp8488Cys)
c.25452G>C (p.Trp8484Cys)
c.25443G>C (p.Trp8481Cys)
c.25413G>C (p.Trp8471Cys)
c.25449G>C (p.Trp8483Cys)
c.25395G>C (p.Trp8465Cys)
c.25392G>C (p.Trp8464Cys)
c.25380G>C (p.Trp8460Cys)
c.25323G>C (p.Trp8441Cys)
c.25311G>C (p.Trp8437Cys)
c.25308G>C (p.Trp8436Cys)
c.25305G>C (p.Trp8435Cys)
c.25461G>C (p.Trp8487Cys)
c.25299G>C (p.Trp8433Cys)
c.23739G>C (p.Trp7913Cys)
c.23232G>C (p.Trp7744Cys)
c.18699G>C (p.Trp6233Cys)
c.1965G>C (p.Trp655Cys)
c.25437G>C (p.Trp8479Cys)
c.25386G>C (p.Trp8462Cys)
c.25239G>C (p.Trp8413Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140049C>TCA366080331SYNE1c.1893G>A (p.Trp631Ter)
c.25359G>A (p.Trp8453Ter)
c.25215G>A (p.Trp8405Ter)
c.761G>A
c.1094G>A
c.1003G>A
c.1131G>A (p.Trp377Ter)
c.24144G>A (p.Trp8048Ter)
n.2107G>A
c.4194G>A (p.Trp1398Ter)
n.9051G>A
c.3297G>A (p.Trp1099Ter)
n.8943G>A
n.1973G>A
n.4381G>A
n.2196G>A
c.1824G>A (p.Trp608Ter)
c.25464G>A (p.Trp8488Ter)
c.25452G>A (p.Trp8484Ter)
c.25443G>A (p.Trp8481Ter)
c.25413G>A (p.Trp8471Ter)
c.25449G>A (p.Trp8483Ter)
c.25395G>A (p.Trp8465Ter)
c.25392G>A (p.Trp8464Ter)
c.25380G>A (p.Trp8460Ter)
c.25323G>A (p.Trp8441Ter)
c.25311G>A (p.Trp8437Ter)
c.25308G>A (p.Trp8436Ter)
c.25305G>A (p.Trp8435Ter)
c.25461G>A (p.Trp8487Ter)
c.25299G>A (p.Trp8433Ter)
c.23739G>A (p.Trp7913Ter)
c.23232G>A (p.Trp7744Ter)
c.18699G>A (p.Trp6233Ter)
c.1965G>A (p.Trp655Ter)
c.25437G>A (p.Trp8479Ter)
c.25386G>A (p.Trp8462Ter)
c.25239G>A (p.Trp8413Ter)
 ClinVar
6g.152140050C>ACA366080338SYNE1c.1892G>T (p.Trp631Leu)
c.25358G>T (p.Trp8453Leu)
c.25214G>T (p.Trp8405Leu)
c.760G>T
c.1093G>T
c.1002G>T
c.1130G>T (p.Trp377Leu)
c.24143G>T (p.Trp8048Leu)
n.2106G>T
c.4193G>T (p.Trp1398Leu)
n.9050G>T
c.3296G>T (p.Trp1099Leu)
n.8942G>T
n.1972G>T
n.4380G>T
n.2195G>T
c.1823G>T (p.Trp608Leu)
c.25463G>T (p.Trp8488Leu)
c.25451G>T (p.Trp8484Leu)
c.25442G>T (p.Trp8481Leu)
c.25412G>T (p.Trp8471Leu)
c.25448G>T (p.Trp8483Leu)
c.25394G>T (p.Trp8465Leu)
c.25391G>T (p.Trp8464Leu)
c.25379G>T (p.Trp8460Leu)
c.25322G>T (p.Trp8441Leu)
c.25310G>T (p.Trp8437Leu)
c.25307G>T (p.Trp8436Leu)
c.25304G>T (p.Trp8435Leu)
c.25460G>T (p.Trp8487Leu)
c.25298G>T (p.Trp8433Leu)
c.23738G>T (p.Trp7913Leu)
c.23231G>T (p.Trp7744Leu)
c.18698G>T (p.Trp6233Leu)
c.1964G>T (p.Trp655Leu)
c.25436G>T (p.Trp8479Leu)
c.25385G>T (p.Trp8462Leu)
c.25238G>T (p.Trp8413Leu)
6g.152140050C>GCA366080340SYNE1c.1892G>C (p.Trp631Ser)
c.25358G>C (p.Trp8453Ser)
c.25214G>C (p.Trp8405Ser)
c.760G>C
c.1093G>C
c.1002G>C
c.1130G>C (p.Trp377Ser)
c.24143G>C (p.Trp8048Ser)
n.2106G>C
c.4193G>C (p.Trp1398Ser)
n.9050G>C
c.3296G>C (p.Trp1099Ser)
n.8942G>C
n.1972G>C
n.4380G>C
n.2195G>C
c.1823G>C (p.Trp608Ser)
c.25463G>C (p.Trp8488Ser)
c.25451G>C (p.Trp8484Ser)
c.25442G>C (p.Trp8481Ser)
c.25412G>C (p.Trp8471Ser)
c.25448G>C (p.Trp8483Ser)
c.25394G>C (p.Trp8465Ser)
c.25391G>C (p.Trp8464Ser)
c.25379G>C (p.Trp8460Ser)
c.25322G>C (p.Trp8441Ser)
c.25310G>C (p.Trp8437Ser)
c.25307G>C (p.Trp8436Ser)
c.25304G>C (p.Trp8435Ser)
c.25460G>C (p.Trp8487Ser)
c.25298G>C (p.Trp8433Ser)
c.23738G>C (p.Trp7913Ser)
c.23231G>C (p.Trp7744Ser)
c.18698G>C (p.Trp6233Ser)
c.1964G>C (p.Trp655Ser)
c.25436G>C (p.Trp8479Ser)
c.25385G>C (p.Trp8462Ser)
c.25238G>C (p.Trp8413Ser)
6g.152140050C>TCA366080341SYNE1c.1892G>A (p.Trp631Ter)
c.25358G>A (p.Trp8453Ter)
c.25214G>A (p.Trp8405Ter)
c.760G>A
c.1093G>A
c.1002G>A
c.1130G>A (p.Trp377Ter)
c.24143G>A (p.Trp8048Ter)
n.2106G>A
c.4193G>A (p.Trp1398Ter)
n.9050G>A
c.3296G>A (p.Trp1099Ter)
n.8942G>A
n.1972G>A
n.4380G>A
n.2195G>A
c.1823G>A (p.Trp608Ter)
c.25463G>A (p.Trp8488Ter)
c.25451G>A (p.Trp8484Ter)
c.25442G>A (p.Trp8481Ter)
c.25412G>A (p.Trp8471Ter)
c.25448G>A (p.Trp8483Ter)
c.25394G>A (p.Trp8465Ter)
c.25391G>A (p.Trp8464Ter)
c.25379G>A (p.Trp8460Ter)
c.25322G>A (p.Trp8441Ter)
c.25310G>A (p.Trp8437Ter)
c.25307G>A (p.Trp8436Ter)
c.25304G>A (p.Trp8435Ter)
c.25460G>A (p.Trp8487Ter)
c.25298G>A (p.Trp8433Ter)
c.23738G>A (p.Trp7913Ter)
c.23231G>A (p.Trp7744Ter)
c.18698G>A (p.Trp6233Ter)
c.1964G>A (p.Trp655Ter)
c.25436G>A (p.Trp8479Ter)
c.25385G>A (p.Trp8462Ter)
c.25238G>A (p.Trp8413Ter)
6g.152140051A>CCA366080346SYNE1c.1891T>G (p.Trp631Gly)
c.25357T>G (p.Trp8453Gly)
c.25213T>G (p.Trp8405Gly)
c.759T>G
c.1092T>G
c.1001T>G
c.1129T>G (p.Trp377Gly)
c.24142T>G (p.Trp8048Gly)
n.2105T>G
c.4192T>G (p.Trp1398Gly)
n.9049T>G
c.3295T>G (p.Trp1099Gly)
n.8941T>G
n.1971T>G
n.4379T>G
n.2194T>G
c.1822T>G (p.Trp608Gly)
c.25462T>G (p.Trp8488Gly)
c.25450T>G (p.Trp8484Gly)
c.25441T>G (p.Trp8481Gly)
c.25411T>G (p.Trp8471Gly)
c.25447T>G (p.Trp8483Gly)
c.25393T>G (p.Trp8465Gly)
c.25390T>G (p.Trp8464Gly)
c.25378T>G (p.Trp8460Gly)
c.25321T>G (p.Trp8441Gly)
c.25309T>G (p.Trp8437Gly)
c.25306T>G (p.Trp8436Gly)
c.25303T>G (p.Trp8435Gly)
c.25459T>G (p.Trp8487Gly)
c.25297T>G (p.Trp8433Gly)
c.23737T>G (p.Trp7913Gly)
c.23230T>G (p.Trp7744Gly)
c.18697T>G (p.Trp6233Gly)
c.1963T>G (p.Trp655Gly)
c.25435T>G (p.Trp8479Gly)
c.25384T>G (p.Trp8462Gly)
c.25237T>G (p.Trp8413Gly)
6g.152140051A>GCA366080349SYNE1c.1891T>C (p.Trp631Arg)
c.25357T>C (p.Trp8453Arg)
c.25213T>C (p.Trp8405Arg)
c.759T>C
c.1092T>C
c.1001T>C
c.1129T>C (p.Trp377Arg)
c.24142T>C (p.Trp8048Arg)
n.2105T>C
c.4192T>C (p.Trp1398Arg)
n.9049T>C
c.3295T>C (p.Trp1099Arg)
n.8941T>C
n.1971T>C
n.4379T>C
n.2194T>C
c.1822T>C (p.Trp608Arg)
c.25462T>C (p.Trp8488Arg)
c.25450T>C (p.Trp8484Arg)
c.25441T>C (p.Trp8481Arg)
c.25411T>C (p.Trp8471Arg)
c.25447T>C (p.Trp8483Arg)
c.25393T>C (p.Trp8465Arg)
c.25390T>C (p.Trp8464Arg)
c.25378T>C (p.Trp8460Arg)
c.25321T>C (p.Trp8441Arg)
c.25309T>C (p.Trp8437Arg)
c.25306T>C (p.Trp8436Arg)
c.25303T>C (p.Trp8435Arg)
c.25459T>C (p.Trp8487Arg)
c.25297T>C (p.Trp8433Arg)
c.23737T>C (p.Trp7913Arg)
c.23230T>C (p.Trp7744Arg)
c.18697T>C (p.Trp6233Arg)
c.1963T>C (p.Trp655Arg)
c.25435T>C (p.Trp8479Arg)
c.25384T>C (p.Trp8462Arg)
c.25237T>C (p.Trp8413Arg)
6g.152140051A>TCA366080352SYNE1c.1891T>A (p.Trp631Arg)
c.25357T>A (p.Trp8453Arg)
c.25213T>A (p.Trp8405Arg)
c.759T>A
c.1092T>A
c.1001T>A
c.1129T>A (p.Trp377Arg)
c.24142T>A (p.Trp8048Arg)
n.2105T>A
c.4192T>A (p.Trp1398Arg)
n.9049T>A
c.3295T>A (p.Trp1099Arg)
n.8941T>A
n.1971T>A
n.4379T>A
n.2194T>A
c.1822T>A (p.Trp608Arg)
c.25462T>A (p.Trp8488Arg)
c.25450T>A (p.Trp8484Arg)
c.25441T>A (p.Trp8481Arg)
c.25411T>A (p.Trp8471Arg)
c.25447T>A (p.Trp8483Arg)
c.25393T>A (p.Trp8465Arg)
c.25390T>A (p.Trp8464Arg)
c.25378T>A (p.Trp8460Arg)
c.25321T>A (p.Trp8441Arg)
c.25309T>A (p.Trp8437Arg)
c.25306T>A (p.Trp8436Arg)
c.25303T>A (p.Trp8435Arg)
c.25459T>A (p.Trp8487Arg)
c.25297T>A (p.Trp8433Arg)
c.23737T>A (p.Trp7913Arg)
c.23230T>A (p.Trp7744Arg)
c.18697T>A (p.Trp6233Arg)
c.1963T>A (p.Trp655Arg)
c.25435T>A (p.Trp8479Arg)
c.25384T>A (p.Trp8462Arg)
c.25237T>A (p.Trp8413Arg)
6g.152140052G>ACA452969883SYNE1c.1890C>T (p.Ile630=)
c.25356C>T (p.Ile8452=)
c.25212C>T (p.Ile8404=)
c.758C>T
c.1091C>T
c.1000C>T
c.1128C>T (p.Ile376=)
c.24141C>T (p.Ile8047=)
n.2104C>T
c.4191C>T (p.Ile1397=)
n.9048C>T
c.3294C>T (p.Ile1098=)
n.8940C>T
n.1970C>T
n.4378C>T
n.2193C>T
c.1821C>T (p.Ile607=)
c.25461C>T (p.Ile8487=)
c.25449C>T (p.Ile8483=)
c.25440C>T (p.Ile8480=)
c.25410C>T (p.Ile8470=)
c.25446C>T (p.Ile8482=)
c.25392C>T (p.Ile8464=)
c.25389C>T (p.Ile8463=)
c.25377C>T (p.Ile8459=)
c.25320C>T (p.Ile8440=)
c.25308C>T (p.Ile8436=)
c.25305C>T (p.Ile8435=)
c.25302C>T (p.Ile8434=)
c.25458C>T (p.Ile8486=)
c.25296C>T (p.Ile8432=)
c.23736C>T (p.Ile7912=)
c.23229C>T (p.Ile7743=)
c.18696C>T (p.Ile6232=)
c.1962C>T (p.Ile654=)
c.25434C>T (p.Ile8478=)
c.25383C>T (p.Ile8461=)
c.25236C>T (p.Ile8412=)
6g.152140052G>CCA366080356SYNE1c.1890C>G (p.Ile630Met)
c.25356C>G (p.Ile8452Met)
c.25212C>G (p.Ile8404Met)
c.758C>G
c.1091C>G
c.1000C>G
c.1128C>G (p.Ile376Met)
c.24141C>G (p.Ile8047Met)
n.2104C>G
c.4191C>G (p.Ile1397Met)
n.9048C>G
c.3294C>G (p.Ile1098Met)
n.8940C>G
n.1970C>G
n.4378C>G
n.2193C>G
c.1821C>G (p.Ile607Met)
c.25461C>G (p.Ile8487Met)
c.25449C>G (p.Ile8483Met)
c.25440C>G (p.Ile8480Met)
c.25410C>G (p.Ile8470Met)
c.25446C>G (p.Ile8482Met)
c.25392C>G (p.Ile8464Met)
c.25389C>G (p.Ile8463Met)
c.25377C>G (p.Ile8459Met)
c.25320C>G (p.Ile8440Met)
c.25308C>G (p.Ile8436Met)
c.25305C>G (p.Ile8435Met)
c.25302C>G (p.Ile8434Met)
c.25458C>G (p.Ile8486Met)
c.25296C>G (p.Ile8432Met)
c.23736C>G (p.Ile7912Met)
c.23229C>G (p.Ile7743Met)
c.18696C>G (p.Ile6232Met)
c.1962C>G (p.Ile654Met)
c.25434C>G (p.Ile8478Met)
c.25383C>G (p.Ile8461Met)
c.25236C>G (p.Ile8412Met)
6g.152140052G>TCA452969884SYNE1c.1890C>A (p.Ile630=)
c.25356C>A (p.Ile8452=)
c.25212C>A (p.Ile8404=)
c.758C>A
c.1091C>A
c.1000C>A
c.1128C>A (p.Ile376=)
c.24141C>A (p.Ile8047=)
n.2104C>A
c.4191C>A (p.Ile1397=)
n.9048C>A
c.3294C>A (p.Ile1098=)
n.8940C>A
n.1970C>A
n.4378C>A
n.2193C>A
c.1821C>A (p.Ile607=)
c.25461C>A (p.Ile8487=)
c.25449C>A (p.Ile8483=)
c.25440C>A (p.Ile8480=)
c.25410C>A (p.Ile8470=)
c.25446C>A (p.Ile8482=)
c.25392C>A (p.Ile8464=)
c.25389C>A (p.Ile8463=)
c.25377C>A (p.Ile8459=)
c.25320C>A (p.Ile8440=)
c.25308C>A (p.Ile8436=)
c.25305C>A (p.Ile8435=)
c.25302C>A (p.Ile8434=)
c.25458C>A (p.Ile8486=)
c.25296C>A (p.Ile8432=)
c.23736C>A (p.Ile7912=)
c.23229C>A (p.Ile7743=)
c.18696C>A (p.Ile6232=)
c.1962C>A (p.Ile654=)
c.25434C>A (p.Ile8478=)
c.25383C>A (p.Ile8461=)
c.25236C>A (p.Ile8412=)
6g.152140053A>CCA366080359SYNE1c.1889T>G (p.Ile630Ser)
c.25355T>G (p.Ile8452Ser)
c.25211T>G (p.Ile8404Ser)
c.757T>G
c.1090T>G
c.999T>G
c.1127T>G (p.Ile376Ser)
c.24140T>G (p.Ile8047Ser)
n.2103T>G
c.4190T>G (p.Ile1397Ser)
n.9047T>G
c.3293T>G (p.Ile1098Ser)
n.8939T>G
n.1969T>G
n.4377T>G
n.2192T>G
c.1820T>G (p.Ile607Ser)
c.25460T>G (p.Ile8487Ser)
c.25448T>G (p.Ile8483Ser)
c.25439T>G (p.Ile8480Ser)
c.25409T>G (p.Ile8470Ser)
c.25445T>G (p.Ile8482Ser)
c.25391T>G (p.Ile8464Ser)
c.25388T>G (p.Ile8463Ser)
c.25376T>G (p.Ile8459Ser)
c.25319T>G (p.Ile8440Ser)
c.25307T>G (p.Ile8436Ser)
c.25304T>G (p.Ile8435Ser)
c.25301T>G (p.Ile8434Ser)
c.25457T>G (p.Ile8486Ser)
c.25295T>G (p.Ile8432Ser)
c.23735T>G (p.Ile7912Ser)
c.23228T>G (p.Ile7743Ser)
c.18695T>G (p.Ile6232Ser)
c.1961T>G (p.Ile654Ser)
c.25433T>G (p.Ile8478Ser)
c.25382T>G (p.Ile8461Ser)
c.25235T>G (p.Ile8412Ser)
6g.152140053A>GCA366080361SYNE1c.1889T>C (p.Ile630Thr)
c.25355T>C (p.Ile8452Thr)
c.25211T>C (p.Ile8404Thr)
c.757T>C
c.1090T>C
c.999T>C
c.1127T>C (p.Ile376Thr)
c.24140T>C (p.Ile8047Thr)
n.2103T>C
c.4190T>C (p.Ile1397Thr)
n.9047T>C
c.3293T>C (p.Ile1098Thr)
n.8939T>C
n.1969T>C
n.4377T>C
n.2192T>C
c.1820T>C (p.Ile607Thr)
c.25460T>C (p.Ile8487Thr)
c.25448T>C (p.Ile8483Thr)
c.25439T>C (p.Ile8480Thr)
c.25409T>C (p.Ile8470Thr)
c.25445T>C (p.Ile8482Thr)
c.25391T>C (p.Ile8464Thr)
c.25388T>C (p.Ile8463Thr)
c.25376T>C (p.Ile8459Thr)
c.25319T>C (p.Ile8440Thr)
c.25307T>C (p.Ile8436Thr)
c.25304T>C (p.Ile8435Thr)
c.25301T>C (p.Ile8434Thr)
c.25457T>C (p.Ile8486Thr)
c.25295T>C (p.Ile8432Thr)
c.23735T>C (p.Ile7912Thr)
c.23228T>C (p.Ile7743Thr)
c.18695T>C (p.Ile6232Thr)
c.1961T>C (p.Ile654Thr)
c.25433T>C (p.Ile8478Thr)
c.25382T>C (p.Ile8461Thr)
c.25235T>C (p.Ile8412Thr)
 gnomAD v4
6g.152140053A>TCA366080364SYNE1c.1889T>A (p.Ile630Asn)
c.25355T>A (p.Ile8452Asn)
c.25211T>A (p.Ile8404Asn)
c.757T>A
c.1090T>A
c.999T>A
c.1127T>A (p.Ile376Asn)
c.24140T>A (p.Ile8047Asn)
n.2103T>A
c.4190T>A (p.Ile1397Asn)
n.9047T>A
c.3293T>A (p.Ile1098Asn)
n.8939T>A
n.1969T>A
n.4377T>A
n.2192T>A
c.1820T>A (p.Ile607Asn)
c.25460T>A (p.Ile8487Asn)
c.25448T>A (p.Ile8483Asn)
c.25439T>A (p.Ile8480Asn)
c.25409T>A (p.Ile8470Asn)
c.25445T>A (p.Ile8482Asn)
c.25391T>A (p.Ile8464Asn)
c.25388T>A (p.Ile8463Asn)
c.25376T>A (p.Ile8459Asn)
c.25319T>A (p.Ile8440Asn)
c.25307T>A (p.Ile8436Asn)
c.25304T>A (p.Ile8435Asn)
c.25301T>A (p.Ile8434Asn)
c.25457T>A (p.Ile8486Asn)
c.25295T>A (p.Ile8432Asn)
c.23735T>A (p.Ile7912Asn)
c.23228T>A (p.Ile7743Asn)
c.18695T>A (p.Ile6232Asn)
c.1961T>A (p.Ile654Asn)
c.25433T>A (p.Ile8478Asn)
c.25382T>A (p.Ile8461Asn)
c.25235T>A (p.Ile8412Asn)
6g.152140054T>ACA366080371SYNE1c.1888A>T (p.Ile630Phe)
c.25354A>T (p.Ile8452Phe)
c.25210A>T (p.Ile8404Phe)
c.756A>T
c.1089A>T
c.998A>T
c.1126A>T (p.Ile376Phe)
c.24139A>T (p.Ile8047Phe)
n.2102A>T
c.4189A>T (p.Ile1397Phe)
n.9046A>T
c.3292A>T (p.Ile1098Phe)
n.8938A>T
n.1968A>T
n.4376A>T
n.2191A>T
c.1819A>T (p.Ile607Phe)
c.25459A>T (p.Ile8487Phe)
c.25447A>T (p.Ile8483Phe)
c.25438A>T (p.Ile8480Phe)
c.25408A>T (p.Ile8470Phe)
c.25444A>T (p.Ile8482Phe)
c.25390A>T (p.Ile8464Phe)
c.25387A>T (p.Ile8463Phe)
c.25375A>T (p.Ile8459Phe)
c.25318A>T (p.Ile8440Phe)
c.25306A>T (p.Ile8436Phe)
c.25303A>T (p.Ile8435Phe)
c.25300A>T (p.Ile8434Phe)
c.25456A>T (p.Ile8486Phe)
c.25294A>T (p.Ile8432Phe)
c.23734A>T (p.Ile7912Phe)
c.23227A>T (p.Ile7743Phe)
c.18694A>T (p.Ile6232Phe)
c.1960A>T (p.Ile654Phe)
c.25432A>T (p.Ile8478Phe)
c.25381A>T (p.Ile8461Phe)
c.25234A>T (p.Ile8412Phe)
6g.152140054T>CCA4052863SYNE1c.1888A>G (p.Ile630Val)
c.25354A>G (p.Ile8452Val)
c.25210A>G (p.Ile8404Val)
c.756A>G
c.1089A>G
c.998A>G
c.1126A>G (p.Ile376Val)
c.24139A>G (p.Ile8047Val)
n.2102A>G
c.4189A>G (p.Ile1397Val)
n.9046A>G
c.3292A>G (p.Ile1098Val)
n.8938A>G
n.1968A>G
n.4376A>G
n.2191A>G
c.1819A>G (p.Ile607Val)
c.25459A>G (p.Ile8487Val)
c.25447A>G (p.Ile8483Val)
c.25438A>G (p.Ile8480Val)
c.25408A>G (p.Ile8470Val)
c.25444A>G (p.Ile8482Val)
c.25390A>G (p.Ile8464Val)
c.25387A>G (p.Ile8463Val)
c.25375A>G (p.Ile8459Val)
c.25318A>G (p.Ile8440Val)
c.25306A>G (p.Ile8436Val)
c.25303A>G (p.Ile8435Val)
c.25300A>G (p.Ile8434Val)
c.25456A>G (p.Ile8486Val)
c.25294A>G (p.Ile8432Val)
c.23734A>G (p.Ile7912Val)
c.23227A>G (p.Ile7743Val)
c.18694A>G (p.Ile6232Val)
c.1960A>G (p.Ile654Val)
c.25432A>G (p.Ile8478Val)
c.25381A>G (p.Ile8461Val)
c.25234A>G (p.Ile8412Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140054T>GCA366080369SYNE1c.1888A>C (p.Ile630Leu)
c.25354A>C (p.Ile8452Leu)
c.25210A>C (p.Ile8404Leu)
c.756A>C
c.1089A>C
c.998A>C
c.1126A>C (p.Ile376Leu)
c.24139A>C (p.Ile8047Leu)
n.2102A>C
c.4189A>C (p.Ile1397Leu)
n.9046A>C
c.3292A>C (p.Ile1098Leu)
n.8938A>C
n.1968A>C
n.4376A>C
n.2191A>C
c.1819A>C (p.Ile607Leu)
c.25459A>C (p.Ile8487Leu)
c.25447A>C (p.Ile8483Leu)
c.25438A>C (p.Ile8480Leu)
c.25408A>C (p.Ile8470Leu)
c.25444A>C (p.Ile8482Leu)
c.25390A>C (p.Ile8464Leu)
c.25387A>C (p.Ile8463Leu)
c.25375A>C (p.Ile8459Leu)
c.25318A>C (p.Ile8440Leu)
c.25306A>C (p.Ile8436Leu)
c.25303A>C (p.Ile8435Leu)
c.25300A>C (p.Ile8434Leu)
c.25456A>C (p.Ile8486Leu)
c.25294A>C (p.Ile8432Leu)
c.23734A>C (p.Ile7912Leu)
c.23227A>C (p.Ile7743Leu)
c.18694A>C (p.Ile6232Leu)
c.1960A>C (p.Ile654Leu)
c.25432A>C (p.Ile8478Leu)
c.25381A>C (p.Ile8461Leu)
c.25234A>C (p.Ile8412Leu)
6g.152140054T=CA1673206303SYNE1c.1888A= (p.Ile630=)
c.25354A= (p.Ile8452=)
c.25210A= (p.Ile8404=)
c.756A=
c.1089A=
c.998A=
c.1126A= (p.Ile376=)
c.24139A= (p.Ile8047=)
n.2102A=
c.4189A= (p.Ile1397=)
n.9046A=
c.3292A= (p.Ile1098=)
n.8938A=
n.1968A=
n.4376A=
n.2191A=
c.1819A= (p.Ile607=)
c.25459A= (p.Ile8487=)
c.25447A= (p.Ile8483=)
c.25438A= (p.Ile8480=)
c.25408A= (p.Ile8470=)
c.25444A= (p.Ile8482=)
c.25390A= (p.Ile8464=)
c.25387A= (p.Ile8463=)
c.25375A= (p.Ile8459=)
c.25318A= (p.Ile8440=)
c.25306A= (p.Ile8436=)
c.25303A= (p.Ile8435=)
c.25300A= (p.Ile8434=)
c.25456A= (p.Ile8486=)
c.25294A= (p.Ile8432=)
c.23734A= (p.Ile7912=)
c.23227A= (p.Ile7743=)
c.18694A= (p.Ile6232=)
c.1960A= (p.Ile654=)
c.25432A= (p.Ile8478=)
c.25381A= (p.Ile8461=)
c.25234A= (p.Ile8412=)
6g.152140055G>ACA452969886SYNE1c.1887C>T (p.Ser629=)
c.25353C>T (p.Ser8451=)
c.25209C>T (p.Ser8403=)
c.755C>T
c.1088C>T
c.997C>T
c.1125C>T (p.Ser375=)
c.24138C>T (p.Ser8046=)
n.2101C>T
c.4188C>T (p.Ser1396=)
n.9045C>T
c.3291C>T (p.Ser1097=)
n.8937C>T
n.1967C>T
n.4375C>T
n.2190C>T
c.1818C>T (p.Ser606=)
c.25458C>T (p.Ser8486=)
c.25446C>T (p.Ser8482=)
c.25437C>T (p.Ser8479=)
c.25407C>T (p.Ser8469=)
c.25443C>T (p.Ser8481=)
c.25389C>T (p.Ser8463=)
c.25386C>T (p.Ser8462=)
c.25374C>T (p.Ser8458=)
c.25317C>T (p.Ser8439=)
c.25305C>T (p.Ser8435=)
c.25302C>T (p.Ser8434=)
c.25299C>T (p.Ser8433=)
c.25455C>T (p.Ser8485=)
c.25293C>T (p.Ser8431=)
c.23733C>T (p.Ser7911=)
c.23226C>T (p.Ser7742=)
c.18693C>T (p.Ser6231=)
c.1959C>T (p.Ser653=)
c.25431C>T (p.Ser8477=)
c.25380C>T (p.Ser8460=)
c.25233C>T (p.Ser8411=)
6g.152140055G>CCA366080372SYNE1c.1887C>G (p.Ser629Arg)
c.25353C>G (p.Ser8451Arg)
c.25209C>G (p.Ser8403Arg)
c.755C>G
c.1088C>G
c.997C>G
c.1125C>G (p.Ser375Arg)
c.24138C>G (p.Ser8046Arg)
n.2101C>G
c.4188C>G (p.Ser1396Arg)
n.9045C>G
c.3291C>G (p.Ser1097Arg)
n.8937C>G
n.1967C>G
n.4375C>G
n.2190C>G
c.1818C>G (p.Ser606Arg)
c.25458C>G (p.Ser8486Arg)
c.25446C>G (p.Ser8482Arg)
c.25437C>G (p.Ser8479Arg)
c.25407C>G (p.Ser8469Arg)
c.25443C>G (p.Ser8481Arg)
c.25389C>G (p.Ser8463Arg)
c.25386C>G (p.Ser8462Arg)
c.25374C>G (p.Ser8458Arg)
c.25317C>G (p.Ser8439Arg)
c.25305C>G (p.Ser8435Arg)
c.25302C>G (p.Ser8434Arg)
c.25299C>G (p.Ser8433Arg)
c.25455C>G (p.Ser8485Arg)
c.25293C>G (p.Ser8431Arg)
c.23733C>G (p.Ser7911Arg)
c.23226C>G (p.Ser7742Arg)
c.18693C>G (p.Ser6231Arg)
c.1959C>G (p.Ser653Arg)
c.25431C>G (p.Ser8477Arg)
c.25380C>G (p.Ser8460Arg)
c.25233C>G (p.Ser8411Arg)
6g.152140055G>TCA366080373SYNE1c.1887C>A (p.Ser629Arg)
c.25353C>A (p.Ser8451Arg)
c.25209C>A (p.Ser8403Arg)
c.755C>A
c.1088C>A
c.997C>A
c.1125C>A (p.Ser375Arg)
c.24138C>A (p.Ser8046Arg)
n.2101C>A
c.4188C>A (p.Ser1396Arg)
n.9045C>A
c.3291C>A (p.Ser1097Arg)
n.8937C>A
n.1967C>A
n.4375C>A
n.2190C>A
c.1818C>A (p.Ser606Arg)
c.25458C>A (p.Ser8486Arg)
c.25446C>A (p.Ser8482Arg)
c.25437C>A (p.Ser8479Arg)
c.25407C>A (p.Ser8469Arg)
c.25443C>A (p.Ser8481Arg)
c.25389C>A (p.Ser8463Arg)
c.25386C>A (p.Ser8462Arg)
c.25374C>A (p.Ser8458Arg)
c.25317C>A (p.Ser8439Arg)
c.25305C>A (p.Ser8435Arg)
c.25302C>A (p.Ser8434Arg)
c.25299C>A (p.Ser8433Arg)
c.25455C>A (p.Ser8485Arg)
c.25293C>A (p.Ser8431Arg)
c.23733C>A (p.Ser7911Arg)
c.23226C>A (p.Ser7742Arg)
c.18693C>A (p.Ser6231Arg)
c.1959C>A (p.Ser653Arg)
c.25431C>A (p.Ser8477Arg)
c.25380C>A (p.Ser8460Arg)
c.25233C>A (p.Ser8411Arg)
6g.152140056C>ACA366080374SYNE1c.1886G>T (p.Ser629Ile)
c.25352G>T (p.Ser8451Ile)
c.25208G>T (p.Ser8403Ile)
c.754G>T
c.1087G>T
c.996G>T
c.1124G>T (p.Ser375Ile)
c.24137G>T (p.Ser8046Ile)
n.2100G>T
c.4187G>T (p.Ser1396Ile)
n.9044G>T
c.3290G>T (p.Ser1097Ile)
n.8936G>T
n.1966G>T
n.4374G>T
n.2189G>T
c.1817G>T (p.Ser606Ile)
c.25457G>T (p.Ser8486Ile)
c.25445G>T (p.Ser8482Ile)
c.25436G>T (p.Ser8479Ile)
c.25406G>T (p.Ser8469Ile)
c.25442G>T (p.Ser8481Ile)
c.25388G>T (p.Ser8463Ile)
c.25385G>T (p.Ser8462Ile)
c.25373G>T (p.Ser8458Ile)
c.25316G>T (p.Ser8439Ile)
c.25304G>T (p.Ser8435Ile)
c.25301G>T (p.Ser8434Ile)
c.25298G>T (p.Ser8433Ile)
c.25454G>T (p.Ser8485Ile)
c.25292G>T (p.Ser8431Ile)
c.23732G>T (p.Ser7911Ile)
c.23225G>T (p.Ser7742Ile)
c.18692G>T (p.Ser6231Ile)
c.1958G>T (p.Ser653Ile)
c.25430G>T (p.Ser8477Ile)
c.25379G>T (p.Ser8460Ile)
c.25232G>T (p.Ser8411Ile)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140056C>GCA366080375SYNE1c.1886G>C (p.Ser629Thr)
c.25352G>C (p.Ser8451Thr)
c.25208G>C (p.Ser8403Thr)
c.754G>C
c.1087G>C
c.996G>C
c.1124G>C (p.Ser375Thr)
c.24137G>C (p.Ser8046Thr)
n.2100G>C
c.4187G>C (p.Ser1396Thr)
n.9044G>C
c.3290G>C (p.Ser1097Thr)
n.8936G>C
n.1966G>C
n.4374G>C
n.2189G>C
c.1817G>C (p.Ser606Thr)
c.25457G>C (p.Ser8486Thr)
c.25445G>C (p.Ser8482Thr)
c.25436G>C (p.Ser8479Thr)
c.25406G>C (p.Ser8469Thr)
c.25442G>C (p.Ser8481Thr)
c.25388G>C (p.Ser8463Thr)
c.25385G>C (p.Ser8462Thr)
c.25373G>C (p.Ser8458Thr)
c.25316G>C (p.Ser8439Thr)
c.25304G>C (p.Ser8435Thr)
c.25301G>C (p.Ser8434Thr)
c.25298G>C (p.Ser8433Thr)
c.25454G>C (p.Ser8485Thr)
c.25292G>C (p.Ser8431Thr)
c.23732G>C (p.Ser7911Thr)
c.23225G>C (p.Ser7742Thr)
c.18692G>C (p.Ser6231Thr)
c.1958G>C (p.Ser653Thr)
c.25430G>C (p.Ser8477Thr)
c.25379G>C (p.Ser8460Thr)
c.25232G>C (p.Ser8411Thr)
6g.152140056C>TCA366080376SYNE1c.1886G>A (p.Ser629Asn)
c.25352G>A (p.Ser8451Asn)
c.25208G>A (p.Ser8403Asn)
c.754G>A
c.1087G>A
c.996G>A
c.1124G>A (p.Ser375Asn)
c.24137G>A (p.Ser8046Asn)
n.2100G>A
c.4187G>A (p.Ser1396Asn)
n.9044G>A
c.3290G>A (p.Ser1097Asn)
n.8936G>A
n.1966G>A
n.4374G>A
n.2189G>A
c.1817G>A (p.Ser606Asn)
c.25457G>A (p.Ser8486Asn)
c.25445G>A (p.Ser8482Asn)
c.25436G>A (p.Ser8479Asn)
c.25406G>A (p.Ser8469Asn)
c.25442G>A (p.Ser8481Asn)
c.25388G>A (p.Ser8463Asn)
c.25385G>A (p.Ser8462Asn)
c.25373G>A (p.Ser8458Asn)
c.25316G>A (p.Ser8439Asn)
c.25304G>A (p.Ser8435Asn)
c.25301G>A (p.Ser8434Asn)
c.25298G>A (p.Ser8433Asn)
c.25454G>A (p.Ser8485Asn)
c.25292G>A (p.Ser8431Asn)
c.23732G>A (p.Ser7911Asn)
c.23225G>A (p.Ser7742Asn)
c.18692G>A (p.Ser6231Asn)
c.1958G>A (p.Ser653Asn)
c.25430G>A (p.Ser8477Asn)
c.25379G>A (p.Ser8460Asn)
c.25232G>A (p.Ser8411Asn)
 gnomAD v4
6g.152140057T>ACA366080378SYNE1c.1885A>T (p.Ser629Cys)
c.25351A>T (p.Ser8451Cys)
c.25207A>T (p.Ser8403Cys)
c.753A>T
c.1086A>T
c.995A>T
c.1123A>T (p.Ser375Cys)
c.24136A>T (p.Ser8046Cys)
n.2099A>T
c.4186A>T (p.Ser1396Cys)
n.9043A>T
c.3289A>T (p.Ser1097Cys)
n.8935A>T
n.1965A>T
n.4373A>T
n.2188A>T
c.1816A>T (p.Ser606Cys)
c.25456A>T (p.Ser8486Cys)
c.25444A>T (p.Ser8482Cys)
c.25435A>T (p.Ser8479Cys)
c.25405A>T (p.Ser8469Cys)
c.25441A>T (p.Ser8481Cys)
c.25387A>T (p.Ser8463Cys)
c.25384A>T (p.Ser8462Cys)
c.25372A>T (p.Ser8458Cys)
c.25315A>T (p.Ser8439Cys)
c.25303A>T (p.Ser8435Cys)
c.25300A>T (p.Ser8434Cys)
c.25297A>T (p.Ser8433Cys)
c.25453A>T (p.Ser8485Cys)
c.25291A>T (p.Ser8431Cys)
c.23731A>T (p.Ser7911Cys)
c.23224A>T (p.Ser7742Cys)
c.18691A>T (p.Ser6231Cys)
c.1957A>T (p.Ser653Cys)
c.25429A>T (p.Ser8477Cys)
c.25378A>T (p.Ser8460Cys)
c.25231A>T (p.Ser8411Cys)
6g.152140057T>CCA150165570SYNE1c.1885A>G (p.Ser629Gly)
c.25351A>G (p.Ser8451Gly)
c.25207A>G (p.Ser8403Gly)
c.753A>G
c.1086A>G
c.995A>G
c.1123A>G (p.Ser375Gly)
c.24136A>G (p.Ser8046Gly)
n.2099A>G
c.4186A>G (p.Ser1396Gly)
n.9043A>G
c.3289A>G (p.Ser1097Gly)
n.8935A>G
n.1965A>G
n.4373A>G
n.2188A>G
c.1816A>G (p.Ser606Gly)
c.25456A>G (p.Ser8486Gly)
c.25444A>G (p.Ser8482Gly)
c.25435A>G (p.Ser8479Gly)
c.25405A>G (p.Ser8469Gly)
c.25441A>G (p.Ser8481Gly)
c.25387A>G (p.Ser8463Gly)
c.25384A>G (p.Ser8462Gly)
c.25372A>G (p.Ser8458Gly)
c.25315A>G (p.Ser8439Gly)
c.25303A>G (p.Ser8435Gly)
c.25300A>G (p.Ser8434Gly)
c.25297A>G (p.Ser8433Gly)
c.25453A>G (p.Ser8485Gly)
c.25291A>G (p.Ser8431Gly)
c.23731A>G (p.Ser7911Gly)
c.23224A>G (p.Ser7742Gly)
c.18691A>G (p.Ser6231Gly)
c.1957A>G (p.Ser653Gly)
c.25429A>G (p.Ser8477Gly)
c.25378A>G (p.Ser8460Gly)
c.25231A>G (p.Ser8411Gly)
 dbSNP gnomAD v4
6g.152140057T>GCA366080377SYNE1c.1885A>C (p.Ser629Arg)
c.25351A>C (p.Ser8451Arg)
c.25207A>C (p.Ser8403Arg)
c.753A>C
c.1086A>C
c.995A>C
c.1123A>C (p.Ser375Arg)
c.24136A>C (p.Ser8046Arg)
n.2099A>C
c.4186A>C (p.Ser1396Arg)
n.9043A>C
c.3289A>C (p.Ser1097Arg)
n.8935A>C
n.1965A>C
n.4373A>C
n.2188A>C
c.1816A>C (p.Ser606Arg)
c.25456A>C (p.Ser8486Arg)
c.25444A>C (p.Ser8482Arg)
c.25435A>C (p.Ser8479Arg)
c.25405A>C (p.Ser8469Arg)
c.25441A>C (p.Ser8481Arg)
c.25387A>C (p.Ser8463Arg)
c.25384A>C (p.Ser8462Arg)
c.25372A>C (p.Ser8458Arg)
c.25315A>C (p.Ser8439Arg)
c.25303A>C (p.Ser8435Arg)
c.25300A>C (p.Ser8434Arg)
c.25297A>C (p.Ser8433Arg)
c.25453A>C (p.Ser8485Arg)
c.25291A>C (p.Ser8431Arg)
c.23731A>C (p.Ser7911Arg)
c.23224A>C (p.Ser7742Arg)
c.18691A>C (p.Ser6231Arg)
c.1957A>C (p.Ser653Arg)
c.25429A>C (p.Ser8477Arg)
c.25378A>C (p.Ser8460Arg)
c.25231A>C (p.Ser8411Arg)
6g.152140057T=CA1673206308SYNE1c.1885A= (p.Ser629=)
c.25351A= (p.Ser8451=)
c.25207A= (p.Ser8403=)
c.753A=
c.1086A=
c.995A=
c.1123A= (p.Ser375=)
c.24136A= (p.Ser8046=)
n.2099A=
c.4186A= (p.Ser1396=)
n.9043A=
c.3289A= (p.Ser1097=)
n.8935A=
n.1965A=
n.4373A=
n.2188A=
c.1816A= (p.Ser606=)
c.25456A= (p.Ser8486=)
c.25444A= (p.Ser8482=)
c.25435A= (p.Ser8479=)
c.25405A= (p.Ser8469=)
c.25441A= (p.Ser8481=)
c.25387A= (p.Ser8463=)
c.25384A= (p.Ser8462=)
c.25372A= (p.Ser8458=)
c.25315A= (p.Ser8439=)
c.25303A= (p.Ser8435=)
c.25300A= (p.Ser8434=)
c.25297A= (p.Ser8433=)
c.25453A= (p.Ser8485=)
c.25291A= (p.Ser8431=)
c.23731A= (p.Ser7911=)
c.23224A= (p.Ser7742=)
c.18691A= (p.Ser6231=)
c.1957A= (p.Ser653=)
c.25429A= (p.Ser8477=)
c.25378A= (p.Ser8460=)
c.25231A= (p.Ser8411=)
6g.152140058G>ACA452969888SYNE1c.1884C>T (p.Asn628=)
c.25350C>T (p.Asn8450=)
c.25206C>T (p.Asn8402=)
c.752C>T
c.1085C>T
c.994C>T
c.1122C>T (p.Asn374=)
c.24135C>T (p.Asn8045=)
n.2098C>T
c.4185C>T (p.Asn1395=)
n.9042C>T
c.3288C>T (p.Asn1096=)
n.8934C>T
n.1964C>T
n.4372C>T
n.2187C>T
c.1815C>T (p.Asn605=)
c.25455C>T (p.Asn8485=)
c.25443C>T (p.Asn8481=)
c.25434C>T (p.Asn8478=)
c.25404C>T (p.Asn8468=)
c.25440C>T (p.Asn8480=)
c.25386C>T (p.Asn8462=)
c.25383C>T (p.Asn8461=)
c.25371C>T (p.Asn8457=)
c.25314C>T (p.Asn8438=)
c.25302C>T (p.Asn8434=)
c.25299C>T (p.Asn8433=)
c.25296C>T (p.Asn8432=)
c.25452C>T (p.Asn8484=)
c.25290C>T (p.Asn8430=)
c.23730C>T (p.Asn7910=)
c.23223C>T (p.Asn7741=)
c.18690C>T (p.Asn6230=)
c.1956C>T (p.Asn652=)
c.25428C>T (p.Asn8476=)
c.25377C>T (p.Asn8459=)
c.25230C>T (p.Asn8410=)
6g.152140058G>CCA366080379SYNE1c.1884C>G (p.Asn628Lys)
c.25350C>G (p.Asn8450Lys)
c.25206C>G (p.Asn8402Lys)
c.752C>G
c.1085C>G
c.994C>G
c.1122C>G (p.Asn374Lys)
c.24135C>G (p.Asn8045Lys)
n.2098C>G
c.4185C>G (p.Asn1395Lys)
n.9042C>G
c.3288C>G (p.Asn1096Lys)
n.8934C>G
n.1964C>G
n.4372C>G
n.2187C>G
c.1815C>G (p.Asn605Lys)
c.25455C>G (p.Asn8485Lys)
c.25443C>G (p.Asn8481Lys)
c.25434C>G (p.Asn8478Lys)
c.25404C>G (p.Asn8468Lys)
c.25440C>G (p.Asn8480Lys)
c.25386C>G (p.Asn8462Lys)
c.25383C>G (p.Asn8461Lys)
c.25371C>G (p.Asn8457Lys)
c.25314C>G (p.Asn8438Lys)
c.25302C>G (p.Asn8434Lys)
c.25299C>G (p.Asn8433Lys)
c.25296C>G (p.Asn8432Lys)
c.25452C>G (p.Asn8484Lys)
c.25290C>G (p.Asn8430Lys)
c.23730C>G (p.Asn7910Lys)
c.23223C>G (p.Asn7741Lys)
c.18690C>G (p.Asn6230Lys)
c.1956C>G (p.Asn652Lys)
c.25428C>G (p.Asn8476Lys)
c.25377C>G (p.Asn8459Lys)
c.25230C>G (p.Asn8410Lys)
6g.152140058G>TCA366080380SYNE1c.1884C>A (p.Asn628Lys)
c.25350C>A (p.Asn8450Lys)
c.25206C>A (p.Asn8402Lys)
c.752C>A
c.1085C>A
c.994C>A
c.1122C>A (p.Asn374Lys)
c.24135C>A (p.Asn8045Lys)
n.2098C>A
c.4185C>A (p.Asn1395Lys)
n.9042C>A
c.3288C>A (p.Asn1096Lys)
n.8934C>A
n.1964C>A
n.4372C>A
n.2187C>A
c.1815C>A (p.Asn605Lys)
c.25455C>A (p.Asn8485Lys)
c.25443C>A (p.Asn8481Lys)
c.25434C>A (p.Asn8478Lys)
c.25404C>A (p.Asn8468Lys)
c.25440C>A (p.Asn8480Lys)
c.25386C>A (p.Asn8462Lys)
c.25383C>A (p.Asn8461Lys)
c.25371C>A (p.Asn8457Lys)
c.25314C>A (p.Asn8438Lys)
c.25302C>A (p.Asn8434Lys)
c.25299C>A (p.Asn8433Lys)
c.25296C>A (p.Asn8432Lys)
c.25452C>A (p.Asn8484Lys)
c.25290C>A (p.Asn8430Lys)
c.23730C>A (p.Asn7910Lys)
c.23223C>A (p.Asn7741Lys)
c.18690C>A (p.Asn6230Lys)
c.1956C>A (p.Asn652Lys)
c.25428C>A (p.Asn8476Lys)
c.25377C>A (p.Asn8459Lys)
c.25230C>A (p.Asn8410Lys)
6g.152140059T>ACA366080383SYNE1c.1883A>T (p.Asn628Ile)
c.25349A>T (p.Asn8450Ile)
c.25205A>T (p.Asn8402Ile)
c.751A>T
c.1084A>T
c.993A>T
c.1121A>T (p.Asn374Ile)
c.24134A>T (p.Asn8045Ile)
n.2097A>T
c.4184A>T (p.Asn1395Ile)
n.9041A>T
c.3287A>T (p.Asn1096Ile)
n.8933A>T
n.1963A>T
n.4371A>T
n.2186A>T
c.1814A>T (p.Asn605Ile)
c.25454A>T (p.Asn8485Ile)
c.25442A>T (p.Asn8481Ile)
c.25433A>T (p.Asn8478Ile)
c.25403A>T (p.Asn8468Ile)
c.25439A>T (p.Asn8480Ile)
c.25385A>T (p.Asn8462Ile)
c.25382A>T (p.Asn8461Ile)
c.25370A>T (p.Asn8457Ile)
c.25313A>T (p.Asn8438Ile)
c.25301A>T (p.Asn8434Ile)
c.25298A>T (p.Asn8433Ile)
c.25295A>T (p.Asn8432Ile)
c.25451A>T (p.Asn8484Ile)
c.25289A>T (p.Asn8430Ile)
c.23729A>T (p.Asn7910Ile)
c.23222A>T (p.Asn7741Ile)
c.18689A>T (p.Asn6230Ile)
c.1955A>T (p.Asn652Ile)
c.25427A>T (p.Asn8476Ile)
c.25376A>T (p.Asn8459Ile)
c.25229A>T (p.Asn8410Ile)
6g.152140059T>CCA4052864SYNE1c.1883A>G (p.Asn628Ser)
c.25349A>G (p.Asn8450Ser)
c.25205A>G (p.Asn8402Ser)
c.751A>G
c.1084A>G
c.993A>G
c.1121A>G (p.Asn374Ser)
c.24134A>G (p.Asn8045Ser)
n.2097A>G
c.4184A>G (p.Asn1395Ser)
n.9041A>G
c.3287A>G (p.Asn1096Ser)
n.8933A>G
n.1963A>G
n.4371A>G
n.2186A>G
c.1814A>G (p.Asn605Ser)
c.25454A>G (p.Asn8485Ser)
c.25442A>G (p.Asn8481Ser)
c.25433A>G (p.Asn8478Ser)
c.25403A>G (p.Asn8468Ser)
c.25439A>G (p.Asn8480Ser)
c.25385A>G (p.Asn8462Ser)
c.25382A>G (p.Asn8461Ser)
c.25370A>G (p.Asn8457Ser)
c.25313A>G (p.Asn8438Ser)
c.25301A>G (p.Asn8434Ser)
c.25298A>G (p.Asn8433Ser)
c.25295A>G (p.Asn8432Ser)
c.25451A>G (p.Asn8484Ser)
c.25289A>G (p.Asn8430Ser)
c.23729A>G (p.Asn7910Ser)
c.23222A>G (p.Asn7741Ser)
c.18689A>G (p.Asn6230Ser)
c.1955A>G (p.Asn652Ser)
c.25427A>G (p.Asn8476Ser)
c.25376A>G (p.Asn8459Ser)
c.25229A>G (p.Asn8410Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140059T>GCA366080387SYNE1c.1883A>C (p.Asn628Thr)
c.25349A>C (p.Asn8450Thr)
c.25205A>C (p.Asn8402Thr)
c.751A>C
c.1084A>C
c.993A>C
c.1121A>C (p.Asn374Thr)
c.24134A>C (p.Asn8045Thr)
n.2097A>C
c.4184A>C (p.Asn1395Thr)
n.9041A>C
c.3287A>C (p.Asn1096Thr)
n.8933A>C
n.1963A>C
n.4371A>C
n.2186A>C
c.1814A>C (p.Asn605Thr)
c.25454A>C (p.Asn8485Thr)
c.25442A>C (p.Asn8481Thr)
c.25433A>C (p.Asn8478Thr)
c.25403A>C (p.Asn8468Thr)
c.25439A>C (p.Asn8480Thr)
c.25385A>C (p.Asn8462Thr)
c.25382A>C (p.Asn8461Thr)
c.25370A>C (p.Asn8457Thr)
c.25313A>C (p.Asn8438Thr)
c.25301A>C (p.Asn8434Thr)
c.25298A>C (p.Asn8433Thr)
c.25295A>C (p.Asn8432Thr)
c.25451A>C (p.Asn8484Thr)
c.25289A>C (p.Asn8430Thr)
c.23729A>C (p.Asn7910Thr)
c.23222A>C (p.Asn7741Thr)
c.18689A>C (p.Asn6230Thr)
c.1955A>C (p.Asn652Thr)
c.25427A>C (p.Asn8476Thr)
c.25376A>C (p.Asn8459Thr)
c.25229A>C (p.Asn8410Thr)
6g.152140059T=CA1673206311SYNE1c.1883A= (p.Asn628=)
c.25349A= (p.Asn8450=)
c.25205A= (p.Asn8402=)
c.751A=
c.1084A=
c.993A=
c.1121A= (p.Asn374=)
c.24134A= (p.Asn8045=)
n.2097A=
c.4184A= (p.Asn1395=)
n.9041A=
c.3287A= (p.Asn1096=)
n.8933A=
n.1963A=
n.4371A=
n.2186A=
c.1814A= (p.Asn605=)
c.25454A= (p.Asn8485=)
c.25442A= (p.Asn8481=)
c.25433A= (p.Asn8478=)
c.25403A= (p.Asn8468=)
c.25439A= (p.Asn8480=)
c.25385A= (p.Asn8462=)
c.25382A= (p.Asn8461=)
c.25370A= (p.Asn8457=)
c.25313A= (p.Asn8438=)
c.25301A= (p.Asn8434=)
c.25298A= (p.Asn8433=)
c.25295A= (p.Asn8432=)
c.25451A= (p.Asn8484=)
c.25289A= (p.Asn8430=)
c.23729A= (p.Asn7910=)
c.23222A= (p.Asn7741=)
c.18689A= (p.Asn6230=)
c.1955A= (p.Asn652=)
c.25427A= (p.Asn8476=)
c.25376A= (p.Asn8459=)
c.25229A= (p.Asn8410=)
6g.152140060T>ACA366080390SYNE1c.1882A>T (p.Asn628Tyr)
c.25348A>T (p.Asn8450Tyr)
c.25204A>T (p.Asn8402Tyr)
c.750A>T
c.1083A>T
c.992A>T
c.1120A>T (p.Asn374Tyr)
c.24133A>T (p.Asn8045Tyr)
n.2096A>T
c.4183A>T (p.Asn1395Tyr)
n.9040A>T
c.3286A>T (p.Asn1096Tyr)
n.8932A>T
n.1962A>T
n.4370A>T
n.2185A>T
c.1813A>T (p.Asn605Tyr)
c.25453A>T (p.Asn8485Tyr)
c.25441A>T (p.Asn8481Tyr)
c.25432A>T (p.Asn8478Tyr)
c.25402A>T (p.Asn8468Tyr)
c.25438A>T (p.Asn8480Tyr)
c.25384A>T (p.Asn8462Tyr)
c.25381A>T (p.Asn8461Tyr)
c.25369A>T (p.Asn8457Tyr)
c.25312A>T (p.Asn8438Tyr)
c.25300A>T (p.Asn8434Tyr)
c.25297A>T (p.Asn8433Tyr)
c.25294A>T (p.Asn8432Tyr)
c.25450A>T (p.Asn8484Tyr)
c.25288A>T (p.Asn8430Tyr)
c.23728A>T (p.Asn7910Tyr)
c.23221A>T (p.Asn7741Tyr)
c.18688A>T (p.Asn6230Tyr)
c.1954A>T (p.Asn652Tyr)
c.25426A>T (p.Asn8476Tyr)
c.25375A>T (p.Asn8459Tyr)
c.25228A>T (p.Asn8410Tyr)
6g.152140060T>CCA366080394SYNE1c.1882A>G (p.Asn628Asp)
c.25348A>G (p.Asn8450Asp)
c.25204A>G (p.Asn8402Asp)
c.750A>G
c.1083A>G
c.992A>G
c.1120A>G (p.Asn374Asp)
c.24133A>G (p.Asn8045Asp)
n.2096A>G
c.4183A>G (p.Asn1395Asp)
n.9040A>G
c.3286A>G (p.Asn1096Asp)
n.8932A>G
n.1962A>G
n.4370A>G
n.2185A>G
c.1813A>G (p.Asn605Asp)
c.25453A>G (p.Asn8485Asp)
c.25441A>G (p.Asn8481Asp)
c.25432A>G (p.Asn8478Asp)
c.25402A>G (p.Asn8468Asp)
c.25438A>G (p.Asn8480Asp)
c.25384A>G (p.Asn8462Asp)
c.25381A>G (p.Asn8461Asp)
c.25369A>G (p.Asn8457Asp)
c.25312A>G (p.Asn8438Asp)
c.25300A>G (p.Asn8434Asp)
c.25297A>G (p.Asn8433Asp)
c.25294A>G (p.Asn8432Asp)
c.25450A>G (p.Asn8484Asp)
c.25288A>G (p.Asn8430Asp)
c.23728A>G (p.Asn7910Asp)
c.23221A>G (p.Asn7741Asp)
c.18688A>G (p.Asn6230Asp)
c.1954A>G (p.Asn652Asp)
c.25426A>G (p.Asn8476Asp)
c.25375A>G (p.Asn8459Asp)
c.25228A>G (p.Asn8410Asp)
6g.152140060T>GCA366080393SYNE1c.1882A>C (p.Asn628His)
c.25348A>C (p.Asn8450His)
c.25204A>C (p.Asn8402His)
c.750A>C
c.1083A>C
c.992A>C
c.1120A>C (p.Asn374His)
c.24133A>C (p.Asn8045His)
n.2096A>C
c.4183A>C (p.Asn1395His)
n.9040A>C
c.3286A>C (p.Asn1096His)
n.8932A>C
n.1962A>C
n.4370A>C
n.2185A>C
c.1813A>C (p.Asn605His)
c.25453A>C (p.Asn8485His)
c.25441A>C (p.Asn8481His)
c.25432A>C (p.Asn8478His)
c.25402A>C (p.Asn8468His)
c.25438A>C (p.Asn8480His)
c.25384A>C (p.Asn8462His)
c.25381A>C (p.Asn8461His)
c.25369A>C (p.Asn8457His)
c.25312A>C (p.Asn8438His)
c.25300A>C (p.Asn8434His)
c.25297A>C (p.Asn8433His)
c.25294A>C (p.Asn8432His)
c.25450A>C (p.Asn8484His)
c.25288A>C (p.Asn8430His)
c.23728A>C (p.Asn7910His)
c.23221A>C (p.Asn7741His)
c.18688A>C (p.Asn6230His)
c.1954A>C (p.Asn652His)
c.25426A>C (p.Asn8476His)
c.25375A>C (p.Asn8459His)
c.25228A>C (p.Asn8410His)
6g.152140062_152140066delCA2680812231SYNE1c.1878_1882del (p.Asp626GlufsTer25)
c.25344_25348del (p.Asp8448GlufsTer25)
c.25200_25204del (p.Asp8400GlufsTer25)
c.746_750del
c.1079_1083del
c.988_992del
c.1116_1120del (p.Asp372GlufsTer25)
c.24129_24133del (p.Asp8043GlufsTer25)
n.2092_2096del
c.4179_4183del (p.Asp1393GlufsTer25)
n.9036_9040del
c.3282_3286del (p.Asp1094GlufsTer25)
n.8928_8932del
n.1958_1962del
n.4366_4370del
n.2181_2185del
c.1809_1813del (p.Asp603GlufsTer25)
c.25449_25453del (p.Asp8483GlufsTer25)
c.25437_25441del (p.Asp8479GlufsTer25)
c.25428_25432del (p.Asp8476GlufsTer25)
c.25398_25402del (p.Asp8466GlufsTer25)
c.25434_25438del (p.Asp8478GlufsTer25)
c.25380_25384del (p.Asp8460GlufsTer25)
c.25377_25381del (p.Asp8459GlufsTer25)
c.25365_25369del (p.Asp8455GlufsTer25)
c.25308_25312del (p.Asp8436GlufsTer25)
c.25296_25300del (p.Asp8432GlufsTer25)
c.25293_25297del (p.Asp8431GlufsTer25)
c.25290_25294del (p.Asp8430GlufsTer25)
c.25446_25450del (p.Asp8482GlufsTer25)
c.25284_25288del (p.Asp8428GlufsTer25)
c.23724_23728del (p.Asp7908GlufsTer25)
c.23217_23221del (p.Asp7739GlufsTer25)
c.18684_18688del (p.Asp6228GlufsTer25)
c.1950_1954del (p.Asp650GlufsTer25)
c.25422_25426del (p.Asp8474GlufsTer25)
c.25371_25375del (p.Asp8457GlufsTer25)
c.25224_25228del (p.Asp8408GlufsTer25)
 gnomAD v4
6g.152140061C>ACA366080399SYNE1c.1881G>T (p.Leu627Phe)
c.25347G>T (p.Leu8449Phe)
c.25203G>T (p.Leu8401Phe)
c.749G>T
c.1082G>T
c.991G>T
c.1119G>T (p.Leu373Phe)
c.24132G>T (p.Leu8044Phe)
n.2095G>T
c.4182G>T (p.Leu1394Phe)
n.9039G>T
c.3285G>T (p.Leu1095Phe)
n.8931G>T
n.1961G>T
n.4369G>T
n.2184G>T
c.1812G>T (p.Leu604Phe)
c.25452G>T (p.Leu8484Phe)
c.25440G>T (p.Leu8480Phe)
c.25431G>T (p.Leu8477Phe)
c.25401G>T (p.Leu8467Phe)
c.25437G>T (p.Leu8479Phe)
c.25383G>T (p.Leu8461Phe)
c.25380G>T (p.Leu8460Phe)
c.25368G>T (p.Leu8456Phe)
c.25311G>T (p.Leu8437Phe)
c.25299G>T (p.Leu8433Phe)
c.25296G>T (p.Leu8432Phe)
c.25293G>T (p.Leu8431Phe)
c.25449G>T (p.Leu8483Phe)
c.25287G>T (p.Leu8429Phe)
c.23727G>T (p.Leu7909Phe)
c.23220G>T (p.Leu7740Phe)
c.18687G>T (p.Leu6229Phe)
c.1953G>T (p.Leu651Phe)
c.25425G>T (p.Leu8475Phe)
c.25374G>T (p.Leu8458Phe)
c.25227G>T (p.Leu8409Phe)
6g.152140061C=CA1673206316SYNE1c.1881G= (p.Leu627=)
c.25347G= (p.Leu8449=)
c.25203G= (p.Leu8401=)
c.749G=
c.1082G=
c.991G=
c.1119G= (p.Leu373=)
c.24132G= (p.Leu8044=)
n.2095G=
c.4182G= (p.Leu1394=)
n.9039G=
c.3285G= (p.Leu1095=)
n.8931G=
n.1961G=
n.4369G=
n.2184G=
c.1812G= (p.Leu604=)
c.25452G= (p.Leu8484=)
c.25440G= (p.Leu8480=)
c.25431G= (p.Leu8477=)
c.25401G= (p.Leu8467=)
c.25437G= (p.Leu8479=)
c.25383G= (p.Leu8461=)
c.25380G= (p.Leu8460=)
c.25368G= (p.Leu8456=)
c.25311G= (p.Leu8437=)
c.25299G= (p.Leu8433=)
c.25296G= (p.Leu8432=)
c.25293G= (p.Leu8431=)
c.25449G= (p.Leu8483=)
c.25287G= (p.Leu8429=)
c.23727G= (p.Leu7909=)
c.23220G= (p.Leu7740=)
c.18687G= (p.Leu6229=)
c.1953G= (p.Leu651=)
c.25425G= (p.Leu8475=)
c.25374G= (p.Leu8458=)
c.25227G= (p.Leu8409=)
6g.152140061C>GCA366080401SYNE1c.1881G>C (p.Leu627Phe)
c.25347G>C (p.Leu8449Phe)
c.25203G>C (p.Leu8401Phe)
c.749G>C
c.1082G>C
c.991G>C
c.1119G>C (p.Leu373Phe)
c.24132G>C (p.Leu8044Phe)
n.2095G>C
c.4182G>C (p.Leu1394Phe)
n.9039G>C
c.3285G>C (p.Leu1095Phe)
n.8931G>C
n.1961G>C
n.4369G>C
n.2184G>C
c.1812G>C (p.Leu604Phe)
c.25452G>C (p.Leu8484Phe)
c.25440G>C (p.Leu8480Phe)
c.25431G>C (p.Leu8477Phe)
c.25401G>C (p.Leu8467Phe)
c.25437G>C (p.Leu8479Phe)
c.25383G>C (p.Leu8461Phe)
c.25380G>C (p.Leu8460Phe)
c.25368G>C (p.Leu8456Phe)
c.25311G>C (p.Leu8437Phe)
c.25299G>C (p.Leu8433Phe)
c.25296G>C (p.Leu8432Phe)
c.25293G>C (p.Leu8431Phe)
c.25449G>C (p.Leu8483Phe)
c.25287G>C (p.Leu8429Phe)
c.23727G>C (p.Leu7909Phe)
c.23220G>C (p.Leu7740Phe)
c.18687G>C (p.Leu6229Phe)
c.1953G>C (p.Leu651Phe)
c.25425G>C (p.Leu8475Phe)
c.25374G>C (p.Leu8458Phe)
c.25227G>C (p.Leu8409Phe)
6g.152140061C>TCA452969892SYNE1c.1881G>A (p.Leu627=)
c.25347G>A (p.Leu8449=)
c.25203G>A (p.Leu8401=)
c.749G>A
c.1082G>A
c.991G>A
c.1119G>A (p.Leu373=)
c.24132G>A (p.Leu8044=)
n.2095G>A
c.4182G>A (p.Leu1394=)
n.9039G>A
c.3285G>A (p.Leu1095=)
n.8931G>A
n.1961G>A
n.4369G>A
n.2184G>A
c.1812G>A (p.Leu604=)
c.25452G>A (p.Leu8484=)
c.25440G>A (p.Leu8480=)
c.25431G>A (p.Leu8477=)
c.25401G>A (p.Leu8467=)
c.25437G>A (p.Leu8479=)
c.25383G>A (p.Leu8461=)
c.25380G>A (p.Leu8460=)
c.25368G>A (p.Leu8456=)
c.25311G>A (p.Leu8437=)
c.25299G>A (p.Leu8433=)
c.25296G>A (p.Leu8432=)
c.25293G>A (p.Leu8431=)
c.25449G>A (p.Leu8483=)
c.25287G>A (p.Leu8429=)
c.23727G>A (p.Leu7909=)
c.23220G>A (p.Leu7740=)
c.18687G>A (p.Leu6229=)
c.1953G>A (p.Leu651=)
c.25425G>A (p.Leu8475=)
c.25374G>A (p.Leu8458=)
c.25227G>A (p.Leu8409=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152140062A>CCA366080404SYNE1c.1880T>G (p.Leu627Trp)
c.25346T>G (p.Leu8449Trp)
c.25202T>G (p.Leu8401Trp)
c.748T>G
c.1081T>G
c.990T>G
c.1118T>G (p.Leu373Trp)
c.24131T>G (p.Leu8044Trp)
n.2094T>G
c.4181T>G (p.Leu1394Trp)
n.9038T>G
c.3284T>G (p.Leu1095Trp)
n.8930T>G
n.1960T>G
n.4368T>G
n.2183T>G
c.1811T>G (p.Leu604Trp)
c.25451T>G (p.Leu8484Trp)
c.25439T>G (p.Leu8480Trp)
c.25430T>G (p.Leu8477Trp)
c.25400T>G (p.Leu8467Trp)
c.25436T>G (p.Leu8479Trp)
c.25382T>G (p.Leu8461Trp)
c.25379T>G (p.Leu8460Trp)
c.25367T>G (p.Leu8456Trp)
c.25310T>G (p.Leu8437Trp)
c.25298T>G (p.Leu8433Trp)
c.25295T>G (p.Leu8432Trp)
c.25292T>G (p.Leu8431Trp)
c.25448T>G (p.Leu8483Trp)
c.25286T>G (p.Leu8429Trp)
c.23726T>G (p.Leu7909Trp)
c.23219T>G (p.Leu7740Trp)
c.18686T>G (p.Leu6229Trp)
c.1952T>G (p.Leu651Trp)
c.25424T>G (p.Leu8475Trp)
c.25373T>G (p.Leu8458Trp)
c.25226T>G (p.Leu8409Trp)
6g.152140062A>GCA366080407SYNE1c.1880T>C (p.Leu627Ser)
c.25346T>C (p.Leu8449Ser)
c.25202T>C (p.Leu8401Ser)
c.748T>C
c.1081T>C
c.990T>C
c.1118T>C (p.Leu373Ser)
c.24131T>C (p.Leu8044Ser)
n.2094T>C
c.4181T>C (p.Leu1394Ser)
n.9038T>C
c.3284T>C (p.Leu1095Ser)
n.8930T>C
n.1960T>C
n.4368T>C
n.2183T>C
c.1811T>C (p.Leu604Ser)
c.25451T>C (p.Leu8484Ser)
c.25439T>C (p.Leu8480Ser)
c.25430T>C (p.Leu8477Ser)
c.25400T>C (p.Leu8467Ser)
c.25436T>C (p.Leu8479Ser)
c.25382T>C (p.Leu8461Ser)
c.25379T>C (p.Leu8460Ser)
c.25367T>C (p.Leu8456Ser)
c.25310T>C (p.Leu8437Ser)
c.25298T>C (p.Leu8433Ser)
c.25295T>C (p.Leu8432Ser)
c.25292T>C (p.Leu8431Ser)
c.25448T>C (p.Leu8483Ser)
c.25286T>C (p.Leu8429Ser)
c.23726T>C (p.Leu7909Ser)
c.23219T>C (p.Leu7740Ser)
c.18686T>C (p.Leu6229Ser)
c.1952T>C (p.Leu651Ser)
c.25424T>C (p.Leu8475Ser)
c.25373T>C (p.Leu8458Ser)
c.25226T>C (p.Leu8409Ser)
6g.152140062A>TCA366080409SYNE1c.1880T>A (p.Leu627Ter)
c.25346T>A (p.Leu8449Ter)
c.25202T>A (p.Leu8401Ter)
c.748T>A
c.1081T>A
c.990T>A
c.1118T>A (p.Leu373Ter)
c.24131T>A (p.Leu8044Ter)
n.2094T>A
c.4181T>A (p.Leu1394Ter)
n.9038T>A
c.3284T>A (p.Leu1095Ter)
n.8930T>A
n.1960T>A
n.4368T>A
n.2183T>A
c.1811T>A (p.Leu604Ter)
c.25451T>A (p.Leu8484Ter)
c.25439T>A (p.Leu8480Ter)
c.25430T>A (p.Leu8477Ter)
c.25400T>A (p.Leu8467Ter)
c.25436T>A (p.Leu8479Ter)
c.25382T>A (p.Leu8461Ter)
c.25379T>A (p.Leu8460Ter)
c.25367T>A (p.Leu8456Ter)
c.25310T>A (p.Leu8437Ter)
c.25298T>A (p.Leu8433Ter)
c.25295T>A (p.Leu8432Ter)
c.25292T>A (p.Leu8431Ter)
c.25448T>A (p.Leu8483Ter)
c.25286T>A (p.Leu8429Ter)
c.23726T>A (p.Leu7909Ter)
c.23219T>A (p.Leu7740Ter)
c.18686T>A (p.Leu6229Ter)
c.1952T>A (p.Leu651Ter)
c.25424T>A (p.Leu8475Ter)
c.25373T>A (p.Leu8458Ter)
c.25226T>A (p.Leu8409Ter)
6g.152140063A>CCA366080411SYNE1c.1879T>G (p.Leu627Val)
c.25345T>G (p.Leu8449Val)
c.25201T>G (p.Leu8401Val)
c.747T>G
c.1080T>G
c.989T>G
c.1117T>G (p.Leu373Val)
c.24130T>G (p.Leu8044Val)
n.2093T>G
c.4180T>G (p.Leu1394Val)
n.9037T>G
c.3283T>G (p.Leu1095Val)
n.8929T>G
n.1959T>G
n.4367T>G
n.2182T>G
c.1810T>G (p.Leu604Val)
c.25450T>G (p.Leu8484Val)
c.25438T>G (p.Leu8480Val)
c.25429T>G (p.Leu8477Val)
c.25399T>G (p.Leu8467Val)
c.25435T>G (p.Leu8479Val)
c.25381T>G (p.Leu8461Val)
c.25378T>G (p.Leu8460Val)
c.25366T>G (p.Leu8456Val)
c.25309T>G (p.Leu8437Val)
c.25297T>G (p.Leu8433Val)
c.25294T>G (p.Leu8432Val)
c.25291T>G (p.Leu8431Val)
c.25447T>G (p.Leu8483Val)
c.25285T>G (p.Leu8429Val)
c.23725T>G (p.Leu7909Val)
c.23218T>G (p.Leu7740Val)
c.18685T>G (p.Leu6229Val)
c.1951T>G (p.Leu651Val)
c.25423T>G (p.Leu8475Val)
c.25372T>G (p.Leu8458Val)
c.25225T>G (p.Leu8409Val)
6g.152140063A>GCA452969894SYNE1c.1879T>C (p.Leu627=)
c.25345T>C (p.Leu8449=)
c.25201T>C (p.Leu8401=)
c.747T>C
c.1080T>C
c.989T>C
c.1117T>C (p.Leu373=)
c.24130T>C (p.Leu8044=)
n.2093T>C
c.4180T>C (p.Leu1394=)
n.9037T>C
c.3283T>C (p.Leu1095=)
n.8929T>C
n.1959T>C
n.4367T>C
n.2182T>C
c.1810T>C (p.Leu604=)
c.25450T>C (p.Leu8484=)
c.25438T>C (p.Leu8480=)
c.25429T>C (p.Leu8477=)
c.25399T>C (p.Leu8467=)
c.25435T>C (p.Leu8479=)
c.25381T>C (p.Leu8461=)
c.25378T>C (p.Leu8460=)
c.25366T>C (p.Leu8456=)
c.25309T>C (p.Leu8437=)
c.25297T>C (p.Leu8433=)
c.25294T>C (p.Leu8432=)
c.25291T>C (p.Leu8431=)
c.25447T>C (p.Leu8483=)
c.25285T>C (p.Leu8429=)
c.23725T>C (p.Leu7909=)
c.23218T>C (p.Leu7740=)
c.18685T>C (p.Leu6229=)
c.1951T>C (p.Leu651=)
c.25423T>C (p.Leu8475=)
c.25372T>C (p.Leu8458=)
c.25225T>C (p.Leu8409=)
6g.152140063A>TCA366080413SYNE1c.1879T>A (p.Leu627Met)
c.25345T>A (p.Leu8449Met)
c.25201T>A (p.Leu8401Met)
c.747T>A
c.1080T>A
c.989T>A
c.1117T>A (p.Leu373Met)
c.24130T>A (p.Leu8044Met)
n.2093T>A
c.4180T>A (p.Leu1394Met)
n.9037T>A
c.3283T>A (p.Leu1095Met)
n.8929T>A
n.1959T>A
n.4367T>A
n.2182T>A
c.1810T>A (p.Leu604Met)
c.25450T>A (p.Leu8484Met)
c.25438T>A (p.Leu8480Met)
c.25429T>A (p.Leu8477Met)
c.25399T>A (p.Leu8467Met)
c.25435T>A (p.Leu8479Met)
c.25381T>A (p.Leu8461Met)
c.25378T>A (p.Leu8460Met)
c.25366T>A (p.Leu8456Met)
c.25309T>A (p.Leu8437Met)
c.25297T>A (p.Leu8433Met)
c.25294T>A (p.Leu8432Met)
c.25291T>A (p.Leu8431Met)
c.25447T>A (p.Leu8483Met)
c.25285T>A (p.Leu8429Met)
c.23725T>A (p.Leu7909Met)
c.23218T>A (p.Leu7740Met)
c.18685T>A (p.Leu6229Met)
c.1951T>A (p.Leu651Met)
c.25423T>A (p.Leu8475Met)
c.25372T>A (p.Leu8458Met)
c.25225T>A (p.Leu8409Met)
6g.152140064G>ACA452969897SYNE1c.1878C>T (p.Asp626=)
c.25344C>T (p.Asp8448=)
c.25200C>T (p.Asp8400=)
c.746C>T
c.1079C>T
c.988C>T
c.1116C>T (p.Asp372=)
c.24129C>T (p.Asp8043=)
n.2092C>T
c.4179C>T (p.Asp1393=)
n.9036C>T
c.3282C>T (p.Asp1094=)
n.8928C>T
n.1958C>T
n.4366C>T
n.2181C>T
c.1809C>T (p.Asp603=)
c.25449C>T (p.Asp8483=)
c.25437C>T (p.Asp8479=)
c.25428C>T (p.Asp8476=)
c.25398C>T (p.Asp8466=)
c.25434C>T (p.Asp8478=)
c.25380C>T (p.Asp8460=)
c.25377C>T (p.Asp8459=)
c.25365C>T (p.Asp8455=)
c.25308C>T (p.Asp8436=)
c.25296C>T (p.Asp8432=)
c.25293C>T (p.Asp8431=)
c.25290C>T (p.Asp8430=)
c.25446C>T (p.Asp8482=)
c.25284C>T (p.Asp8428=)
c.23724C>T (p.Asp7908=)
c.23217C>T (p.Asp7739=)
c.18684C>T (p.Asp6228=)
c.1950C>T (p.Asp650=)
c.25422C>T (p.Asp8474=)
c.25371C>T (p.Asp8457=)
c.25224C>T (p.Asp8408=)
 dbSNP gnomAD v2 gnomAD v4
6g.152140064G>CCA366080415SYNE1c.1878C>G (p.Asp626Glu)
c.25344C>G (p.Asp8448Glu)
c.25200C>G (p.Asp8400Glu)
c.746C>G
c.1079C>G
c.988C>G
c.1116C>G (p.Asp372Glu)
c.24129C>G (p.Asp8043Glu)
n.2092C>G
c.4179C>G (p.Asp1393Glu)
n.9036C>G
c.3282C>G (p.Asp1094Glu)
n.8928C>G
n.1958C>G
n.4366C>G
n.2181C>G
c.1809C>G (p.Asp603Glu)
c.25449C>G (p.Asp8483Glu)
c.25437C>G (p.Asp8479Glu)
c.25428C>G (p.Asp8476Glu)
c.25398C>G (p.Asp8466Glu)
c.25434C>G (p.Asp8478Glu)
c.25380C>G (p.Asp8460Glu)
c.25377C>G (p.Asp8459Glu)
c.25365C>G (p.Asp8455Glu)
c.25308C>G (p.Asp8436Glu)
c.25296C>G (p.Asp8432Glu)
c.25293C>G (p.Asp8431Glu)
c.25290C>G (p.Asp8430Glu)
c.25446C>G (p.Asp8482Glu)
c.25284C>G (p.Asp8428Glu)
c.23724C>G (p.Asp7908Glu)
c.23217C>G (p.Asp7739Glu)
c.18684C>G (p.Asp6228Glu)
c.1950C>G (p.Asp650Glu)
c.25422C>G (p.Asp8474Glu)
c.25371C>G (p.Asp8457Glu)
c.25224C>G (p.Asp8408Glu)
6g.152140064G=CA1673206321SYNE1c.1878C= (p.Asp626=)
c.25344C= (p.Asp8448=)
c.25200C= (p.Asp8400=)
c.746C=
c.1079C=
c.988C=
c.1116C= (p.Asp372=)
c.24129C= (p.Asp8043=)
n.2092C=
c.4179C= (p.Asp1393=)
n.9036C=
c.3282C= (p.Asp1094=)
n.8928C=
n.1958C=
n.4366C=
n.2181C=
c.1809C= (p.Asp603=)
c.25449C= (p.Asp8483=)
c.25437C= (p.Asp8479=)
c.25428C= (p.Asp8476=)
c.25398C= (p.Asp8466=)
c.25434C= (p.Asp8478=)
c.25380C= (p.Asp8460=)
c.25377C= (p.Asp8459=)
c.25365C= (p.Asp8455=)
c.25308C= (p.Asp8436=)
c.25296C= (p.Asp8432=)
c.25293C= (p.Asp8431=)
c.25290C= (p.Asp8430=)
c.25446C= (p.Asp8482=)
c.25284C= (p.Asp8428=)
c.23724C= (p.Asp7908=)
c.23217C= (p.Asp7739=)
c.18684C= (p.Asp6228=)
c.1950C= (p.Asp650=)
c.25422C= (p.Asp8474=)
c.25371C= (p.Asp8457=)
c.25224C= (p.Asp8408=)
6g.152140064G>TCA366080417SYNE1c.1878C>A (p.Asp626Glu)
c.25344C>A (p.Asp8448Glu)
c.25200C>A (p.Asp8400Glu)
c.746C>A
c.1079C>A
c.988C>A
c.1116C>A (p.Asp372Glu)
c.24129C>A (p.Asp8043Glu)
n.2092C>A
c.4179C>A (p.Asp1393Glu)
n.9036C>A
c.3282C>A (p.Asp1094Glu)
n.8928C>A
n.1958C>A
n.4366C>A
n.2181C>A
c.1809C>A (p.Asp603Glu)
c.25449C>A (p.Asp8483Glu)
c.25437C>A (p.Asp8479Glu)
c.25428C>A (p.Asp8476Glu)
c.25398C>A (p.Asp8466Glu)
c.25434C>A (p.Asp8478Glu)
c.25380C>A (p.Asp8460Glu)
c.25377C>A (p.Asp8459Glu)
c.25365C>A (p.Asp8455Glu)
c.25308C>A (p.Asp8436Glu)
c.25296C>A (p.Asp8432Glu)
c.25293C>A (p.Asp8431Glu)
c.25290C>A (p.Asp8430Glu)
c.25446C>A (p.Asp8482Glu)
c.25284C>A (p.Asp8428Glu)
c.23724C>A (p.Asp7908Glu)
c.23217C>A (p.Asp7739Glu)
c.18684C>A (p.Asp6228Glu)
c.1950C>A (p.Asp650Glu)
c.25422C>A (p.Asp8474Glu)
c.25371C>A (p.Asp8457Glu)
c.25224C>A (p.Asp8408Glu)
6g.152140065T>ACA366080420SYNE1c.1877A>T (p.Asp626Val)
c.25343A>T (p.Asp8448Val)
c.25199A>T (p.Asp8400Val)
c.745A>T
c.1078A>T
c.987A>T
c.1115A>T (p.Asp372Val)
c.24128A>T (p.Asp8043Val)
n.2091A>T
c.4178A>T (p.Asp1393Val)
n.9035A>T
c.3281A>T (p.Asp1094Val)
n.8927A>T
n.1957A>T
n.4365A>T
n.2180A>T
c.1808A>T (p.Asp603Val)
c.25448A>T (p.Asp8483Val)
c.25436A>T (p.Asp8479Val)
c.25427A>T (p.Asp8476Val)
c.25397A>T (p.Asp8466Val)
c.25433A>T (p.Asp8478Val)
c.25379A>T (p.Asp8460Val)
c.25376A>T (p.Asp8459Val)
c.25364A>T (p.Asp8455Val)
c.25307A>T (p.Asp8436Val)
c.25295A>T (p.Asp8432Val)
c.25292A>T (p.Asp8431Val)
c.25289A>T (p.Asp8430Val)
c.25445A>T (p.Asp8482Val)
c.25283A>T (p.Asp8428Val)
c.23723A>T (p.Asp7908Val)
c.23216A>T (p.Asp7739Val)
c.18683A>T (p.Asp6228Val)
c.1949A>T (p.Asp650Val)
c.25421A>T (p.Asp8474Val)
c.25370A>T (p.Asp8457Val)
c.25223A>T (p.Asp8408Val)
6g.152140065T>CCA366080422SYNE1c.1877A>G (p.Asp626Gly)
c.25343A>G (p.Asp8448Gly)
c.25199A>G (p.Asp8400Gly)
c.745A>G
c.1078A>G
c.987A>G
c.1115A>G (p.Asp372Gly)
c.24128A>G (p.Asp8043Gly)
n.2091A>G
c.4178A>G (p.Asp1393Gly)
n.9035A>G
c.3281A>G (p.Asp1094Gly)
n.8927A>G
n.1957A>G
n.4365A>G
n.2180A>G
c.1808A>G (p.Asp603Gly)
c.25448A>G (p.Asp8483Gly)
c.25436A>G (p.Asp8479Gly)
c.25427A>G (p.Asp8476Gly)
c.25397A>G (p.Asp8466Gly)
c.25433A>G (p.Asp8478Gly)
c.25379A>G (p.Asp8460Gly)
c.25376A>G (p.Asp8459Gly)
c.25364A>G (p.Asp8455Gly)
c.25307A>G (p.Asp8436Gly)
c.25295A>G (p.Asp8432Gly)
c.25292A>G (p.Asp8431Gly)
c.25289A>G (p.Asp8430Gly)
c.25445A>G (p.Asp8482Gly)
c.25283A>G (p.Asp8428Gly)
c.23723A>G (p.Asp7908Gly)
c.23216A>G (p.Asp7739Gly)
c.18683A>G (p.Asp6228Gly)
c.1949A>G (p.Asp650Gly)
c.25421A>G (p.Asp8474Gly)
c.25370A>G (p.Asp8457Gly)
c.25223A>G (p.Asp8408Gly)
6g.152140065T>GCA366080425SYNE1c.1877A>C (p.Asp626Ala)
c.25343A>C (p.Asp8448Ala)
c.25199A>C (p.Asp8400Ala)
c.745A>C
c.1078A>C
c.987A>C
c.1115A>C (p.Asp372Ala)
c.24128A>C (p.Asp8043Ala)
n.2091A>C
c.4178A>C (p.Asp1393Ala)
n.9035A>C
c.3281A>C (p.Asp1094Ala)
n.8927A>C
n.1957A>C
n.4365A>C
n.2180A>C
c.1808A>C (p.Asp603Ala)
c.25448A>C (p.Asp8483Ala)
c.25436A>C (p.Asp8479Ala)
c.25427A>C (p.Asp8476Ala)
c.25397A>C (p.Asp8466Ala)
c.25433A>C (p.Asp8478Ala)
c.25379A>C (p.Asp8460Ala)
c.25376A>C (p.Asp8459Ala)
c.25364A>C (p.Asp8455Ala)
c.25307A>C (p.Asp8436Ala)
c.25295A>C (p.Asp8432Ala)
c.25292A>C (p.Asp8431Ala)
c.25289A>C (p.Asp8430Ala)
c.25445A>C (p.Asp8482Ala)
c.25283A>C (p.Asp8428Ala)
c.23723A>C (p.Asp7908Ala)
c.23216A>C (p.Asp7739Ala)
c.18683A>C (p.Asp6228Ala)
c.1949A>C (p.Asp650Ala)
c.25421A>C (p.Asp8474Ala)
c.25370A>C (p.Asp8457Ala)
c.25223A>C (p.Asp8408Ala)
6g.152140066C>ACA366080429SYNE1c.1876G>T (p.Asp626Tyr)
c.25342G>T (p.Asp8448Tyr)
c.25198G>T (p.Asp8400Tyr)
c.744G>T
c.1077G>T
c.986G>T
c.1114G>T (p.Asp372Tyr)
c.24127G>T (p.Asp8043Tyr)
n.2090G>T
c.4177G>T (p.Asp1393Tyr)
n.9034G>T
c.3280G>T (p.Asp1094Tyr)
n.8926G>T
n.1956G>T
n.4364G>T
n.2179G>T
c.1807G>T (p.Asp603Tyr)
c.25447G>T (p.Asp8483Tyr)
c.25435G>T (p.Asp8479Tyr)
c.25426G>T (p.Asp8476Tyr)
c.25396G>T (p.Asp8466Tyr)
c.25432G>T (p.Asp8478Tyr)
c.25378G>T (p.Asp8460Tyr)
c.25375G>T (p.Asp8459Tyr)
c.25363G>T (p.Asp8455Tyr)
c.25306G>T (p.Asp8436Tyr)
c.25294G>T (p.Asp8432Tyr)
c.25291G>T (p.Asp8431Tyr)
c.25288G>T (p.Asp8430Tyr)
c.25444G>T (p.Asp8482Tyr)
c.25282G>T (p.Asp8428Tyr)
c.23722G>T (p.Asp7908Tyr)
c.23215G>T (p.Asp7739Tyr)
c.18682G>T (p.Asp6228Tyr)
c.1948G>T (p.Asp650Tyr)
c.25420G>T (p.Asp8474Tyr)
c.25369G>T (p.Asp8457Tyr)
c.25222G>T (p.Asp8408Tyr)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140066C=CA1673206327SYNE1c.1876G= (p.Asp626=)
c.25342G= (p.Asp8448=)
c.25198G= (p.Asp8400=)
c.744G=
c.1077G=
c.986G=
c.1114G= (p.Asp372=)
c.24127G= (p.Asp8043=)
n.2090G=
c.4177G= (p.Asp1393=)
n.9034G=
c.3280G= (p.Asp1094=)
n.8926G=
n.1956G=
n.4364G=
n.2179G=
c.1807G= (p.Asp603=)
c.25447G= (p.Asp8483=)
c.25435G= (p.Asp8479=)
c.25426G= (p.Asp8476=)
c.25396G= (p.Asp8466=)
c.25432G= (p.Asp8478=)
c.25378G= (p.Asp8460=)
c.25375G= (p.Asp8459=)
c.25363G= (p.Asp8455=)
c.25306G= (p.Asp8436=)
c.25294G= (p.Asp8432=)
c.25291G= (p.Asp8431=)
c.25288G= (p.Asp8430=)
c.25444G= (p.Asp8482=)
c.25282G= (p.Asp8428=)
c.23722G= (p.Asp7908=)
c.23215G= (p.Asp7739=)
c.18682G= (p.Asp6228=)
c.1948G= (p.Asp650=)
c.25420G= (p.Asp8474=)
c.25369G= (p.Asp8457=)
c.25222G= (p.Asp8408=)
6g.152140066C>GCA366080431SYNE1c.1876G>C (p.Asp626His)
c.25342G>C (p.Asp8448His)
c.25198G>C (p.Asp8400His)
c.744G>C
c.1077G>C
c.986G>C
c.1114G>C (p.Asp372His)
c.24127G>C (p.Asp8043His)
n.2090G>C
c.4177G>C (p.Asp1393His)
n.9034G>C
c.3280G>C (p.Asp1094His)
n.8926G>C
n.1956G>C
n.4364G>C
n.2179G>C
c.1807G>C (p.Asp603His)
c.25447G>C (p.Asp8483His)
c.25435G>C (p.Asp8479His)
c.25426G>C (p.Asp8476His)
c.25396G>C (p.Asp8466His)
c.25432G>C (p.Asp8478His)
c.25378G>C (p.Asp8460His)
c.25375G>C (p.Asp8459His)
c.25363G>C (p.Asp8455His)
c.25306G>C (p.Asp8436His)
c.25294G>C (p.Asp8432His)
c.25291G>C (p.Asp8431His)
c.25288G>C (p.Asp8430His)
c.25444G>C (p.Asp8482His)
c.25282G>C (p.Asp8428His)
c.23722G>C (p.Asp7908His)
c.23215G>C (p.Asp7739His)
c.18682G>C (p.Asp6228His)
c.1948G>C (p.Asp650His)
c.25420G>C (p.Asp8474His)
c.25369G>C (p.Asp8457His)
c.25222G>C (p.Asp8408His)
6g.152140066C>TCA4052865SYNE1c.1876G>A (p.Asp626Asn)
c.25342G>A (p.Asp8448Asn)
c.25198G>A (p.Asp8400Asn)
c.744G>A
c.1077G>A
c.986G>A
c.1114G>A (p.Asp372Asn)
c.24127G>A (p.Asp8043Asn)
n.2090G>A
c.4177G>A (p.Asp1393Asn)
n.9034G>A
c.3280G>A (p.Asp1094Asn)
n.8926G>A
n.1956G>A
n.4364G>A
n.2179G>A
c.1807G>A (p.Asp603Asn)
c.25447G>A (p.Asp8483Asn)
c.25435G>A (p.Asp8479Asn)
c.25426G>A (p.Asp8476Asn)
c.25396G>A (p.Asp8466Asn)
c.25432G>A (p.Asp8478Asn)
c.25378G>A (p.Asp8460Asn)
c.25375G>A (p.Asp8459Asn)
c.25363G>A (p.Asp8455Asn)
c.25306G>A (p.Asp8436Asn)
c.25294G>A (p.Asp8432Asn)
c.25291G>A (p.Asp8431Asn)
c.25288G>A (p.Asp8430Asn)
c.25444G>A (p.Asp8482Asn)
c.25282G>A (p.Asp8428Asn)
c.23722G>A (p.Asp7908Asn)
c.23215G>A (p.Asp7739Asn)
c.18682G>A (p.Asp6228Asn)
c.1948G>A (p.Asp650Asn)
c.25420G>A (p.Asp8474Asn)
c.25369G>A (p.Asp8457Asn)
c.25222G>A (p.Asp8408Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140067T>ACA452969901SYNE1c.1875A>T (p.Ser625=)
c.25341A>T (p.Ser8447=)
c.25197A>T (p.Ser8399=)
c.743A>T
c.1076A>T
c.985A>T
c.1113A>T (p.Ser371=)
c.24126A>T (p.Ser8042=)
n.2089A>T
c.4176A>T (p.Ser1392=)
n.9033A>T
c.3279A>T (p.Ser1093=)
n.8925A>T
n.1955A>T
n.4363A>T
n.2178A>T
c.1806A>T (p.Ser602=)
c.25446A>T (p.Ser8482=)
c.25434A>T (p.Ser8478=)
c.25425A>T (p.Ser8475=)
c.25395A>T (p.Ser8465=)
c.25431A>T (p.Ser8477=)
c.25377A>T (p.Ser8459=)
c.25374A>T (p.Ser8458=)
c.25362A>T (p.Ser8454=)
c.25305A>T (p.Ser8435=)
c.25293A>T (p.Ser8431=)
c.25290A>T (p.Ser8430=)
c.25287A>T (p.Ser8429=)
c.25443A>T (p.Ser8481=)
c.25281A>T (p.Ser8427=)
c.23721A>T (p.Ser7907=)
c.23214A>T (p.Ser7738=)
c.18681A>T (p.Ser6227=)
c.1947A>T (p.Ser649=)
c.25419A>T (p.Ser8473=)
c.25368A>T (p.Ser8456=)
c.25221A>T (p.Ser8407=)
6g.152140067T>CCA452969902SYNE1c.1875A>G (p.Ser625=)
c.25341A>G (p.Ser8447=)
c.25197A>G (p.Ser8399=)
c.743A>G
c.1076A>G
c.985A>G
c.1113A>G (p.Ser371=)
c.24126A>G (p.Ser8042=)
n.2089A>G
c.4176A>G (p.Ser1392=)
n.9033A>G
c.3279A>G (p.Ser1093=)
n.8925A>G
n.1955A>G
n.4363A>G
n.2178A>G
c.1806A>G (p.Ser602=)
c.25446A>G (p.Ser8482=)
c.25434A>G (p.Ser8478=)
c.25425A>G (p.Ser8475=)
c.25395A>G (p.Ser8465=)
c.25431A>G (p.Ser8477=)
c.25377A>G (p.Ser8459=)
c.25374A>G (p.Ser8458=)
c.25362A>G (p.Ser8454=)
c.25305A>G (p.Ser8435=)
c.25293A>G (p.Ser8431=)
c.25290A>G (p.Ser8430=)
c.25287A>G (p.Ser8429=)
c.25443A>G (p.Ser8481=)
c.25281A>G (p.Ser8427=)
c.23721A>G (p.Ser7907=)
c.23214A>G (p.Ser7738=)
c.18681A>G (p.Ser6227=)
c.1947A>G (p.Ser649=)
c.25419A>G (p.Ser8473=)
c.25368A>G (p.Ser8456=)
c.25221A>G (p.Ser8407=)
6g.152140067T>GCA452969903SYNE1c.1875A>C (p.Ser625=)
c.25341A>C (p.Ser8447=)
c.25197A>C (p.Ser8399=)
c.743A>C
c.1076A>C
c.985A>C
c.1113A>C (p.Ser371=)
c.24126A>C (p.Ser8042=)
n.2089A>C
c.4176A>C (p.Ser1392=)
n.9033A>C
c.3279A>C (p.Ser1093=)
n.8925A>C
n.1955A>C
n.4363A>C
n.2178A>C
c.1806A>C (p.Ser602=)
c.25446A>C (p.Ser8482=)
c.25434A>C (p.Ser8478=)
c.25425A>C (p.Ser8475=)
c.25395A>C (p.Ser8465=)
c.25431A>C (p.Ser8477=)
c.25377A>C (p.Ser8459=)
c.25374A>C (p.Ser8458=)
c.25362A>C (p.Ser8454=)
c.25305A>C (p.Ser8435=)
c.25293A>C (p.Ser8431=)
c.25290A>C (p.Ser8430=)
c.25287A>C (p.Ser8429=)
c.25443A>C (p.Ser8481=)
c.25281A>C (p.Ser8427=)
c.23721A>C (p.Ser7907=)
c.23214A>C (p.Ser7738=)
c.18681A>C (p.Ser6227=)
c.1947A>C (p.Ser649=)
c.25419A>C (p.Ser8473=)
c.25368A>C (p.Ser8456=)
c.25221A>C (p.Ser8407=)
6g.152140068G>ACA150165595SYNE1c.1874C>T (p.Ser625Leu)
c.25340C>T (p.Ser8447Leu)
c.25196C>T (p.Ser8399Leu)
c.742C>T
c.1075C>T
c.984C>T
c.1112C>T (p.Ser371Leu)
c.24125C>T (p.Ser8042Leu)
n.2088C>T
c.4175C>T (p.Ser1392Leu)
n.9032C>T
c.3278C>T (p.Ser1093Leu)
n.8924C>T
n.1954C>T
n.4362C>T
n.2177C>T
c.1805C>T (p.Ser602Leu)
c.25445C>T (p.Ser8482Leu)
c.25433C>T (p.Ser8478Leu)
c.25424C>T (p.Ser8475Leu)
c.25394C>T (p.Ser8465Leu)
c.25430C>T (p.Ser8477Leu)
c.25376C>T (p.Ser8459Leu)
c.25373C>T (p.Ser8458Leu)
c.25361C>T (p.Ser8454Leu)
c.25304C>T (p.Ser8435Leu)
c.25292C>T (p.Ser8431Leu)
c.25289C>T (p.Ser8430Leu)
c.25286C>T (p.Ser8429Leu)
c.25442C>T (p.Ser8481Leu)
c.25280C>T (p.Ser8427Leu)
c.23720C>T (p.Ser7907Leu)
c.23213C>T (p.Ser7738Leu)
c.18680C>T (p.Ser6227Leu)
c.1946C>T (p.Ser649Leu)
c.25418C>T (p.Ser8473Leu)
c.25367C>T (p.Ser8456Leu)
c.25220C>T (p.Ser8407Leu)
 dbSNP
6g.152140068G>CCA150165596SYNE1c.1874C>G (p.Ser625Ter)
c.25340C>G (p.Ser8447Ter)
c.25196C>G (p.Ser8399Ter)
c.742C>G
c.1075C>G
c.984C>G
c.1112C>G (p.Ser371Ter)
c.24125C>G (p.Ser8042Ter)
n.2088C>G
c.4175C>G (p.Ser1392Ter)
n.9032C>G
c.3278C>G (p.Ser1093Ter)
n.8924C>G
n.1954C>G
n.4362C>G
n.2177C>G
c.1805C>G (p.Ser602Ter)
c.25445C>G (p.Ser8482Ter)
c.25433C>G (p.Ser8478Ter)
c.25424C>G (p.Ser8475Ter)
c.25394C>G (p.Ser8465Ter)
c.25430C>G (p.Ser8477Ter)
c.25376C>G (p.Ser8459Ter)
c.25373C>G (p.Ser8458Ter)
c.25361C>G (p.Ser8454Ter)
c.25304C>G (p.Ser8435Ter)
c.25292C>G (p.Ser8431Ter)
c.25289C>G (p.Ser8430Ter)
c.25286C>G (p.Ser8429Ter)
c.25442C>G (p.Ser8481Ter)
c.25280C>G (p.Ser8427Ter)
c.23720C>G (p.Ser7907Ter)
c.23213C>G (p.Ser7738Ter)
c.18680C>G (p.Ser6227Ter)
c.1946C>G (p.Ser649Ter)
c.25418C>G (p.Ser8473Ter)
c.25367C>G (p.Ser8456Ter)
c.25220C>G (p.Ser8407Ter)
 dbSNP
6g.152140068G=CA1673206334SYNE1c.1874C= (p.Ser625=)
c.25340C= (p.Ser8447=)
c.25196C= (p.Ser8399=)
c.742C=
c.1075C=
c.984C=
c.1112C= (p.Ser371=)
c.24125C= (p.Ser8042=)
n.2088C=
c.4175C= (p.Ser1392=)
n.9032C=
c.3278C= (p.Ser1093=)
n.8924C=
n.1954C=
n.4362C=
n.2177C=
c.1805C= (p.Ser602=)
c.25445C= (p.Ser8482=)
c.25433C= (p.Ser8478=)
c.25424C= (p.Ser8475=)
c.25394C= (p.Ser8465=)
c.25430C= (p.Ser8477=)
c.25376C= (p.Ser8459=)
c.25373C= (p.Ser8458=)
c.25361C= (p.Ser8454=)
c.25304C= (p.Ser8435=)
c.25292C= (p.Ser8431=)
c.25289C= (p.Ser8430=)
c.25286C= (p.Ser8429=)
c.25442C= (p.Ser8481=)
c.25280C= (p.Ser8427=)
c.23720C= (p.Ser7907=)
c.23213C= (p.Ser7738=)
c.18680C= (p.Ser6227=)
c.1946C= (p.Ser649=)
c.25418C= (p.Ser8473=)
c.25367C= (p.Ser8456=)
c.25220C= (p.Ser8407=)
6g.152140068G>TCA366080439SYNE1c.1874C>A (p.Ser625Ter)
c.25340C>A (p.Ser8447Ter)
c.25196C>A (p.Ser8399Ter)
c.742C>A
c.1075C>A
c.984C>A
c.1112C>A (p.Ser371Ter)
c.24125C>A (p.Ser8042Ter)
n.2088C>A
c.4175C>A (p.Ser1392Ter)
n.9032C>A
c.3278C>A (p.Ser1093Ter)
n.8924C>A
n.1954C>A
n.4362C>A
n.2177C>A
c.1805C>A (p.Ser602Ter)
c.25445C>A (p.Ser8482Ter)
c.25433C>A (p.Ser8478Ter)
c.25424C>A (p.Ser8475Ter)
c.25394C>A (p.Ser8465Ter)
c.25430C>A (p.Ser8477Ter)
c.25376C>A (p.Ser8459Ter)
c.25373C>A (p.Ser8458Ter)
c.25361C>A (p.Ser8454Ter)
c.25304C>A (p.Ser8435Ter)
c.25292C>A (p.Ser8431Ter)
c.25289C>A (p.Ser8430Ter)
c.25286C>A (p.Ser8429Ter)
c.25442C>A (p.Ser8481Ter)
c.25280C>A (p.Ser8427Ter)
c.23720C>A (p.Ser7907Ter)
c.23213C>A (p.Ser7738Ter)
c.18680C>A (p.Ser6227Ter)
c.1946C>A (p.Ser649Ter)
c.25418C>A (p.Ser8473Ter)
c.25367C>A (p.Ser8456Ter)
c.25220C>A (p.Ser8407Ter)
6g.152140069A>CCA366080443SYNE1c.1873T>G (p.Ser625Ala)
c.25339T>G (p.Ser8447Ala)
c.25195T>G (p.Ser8399Ala)
c.741T>G
c.1074T>G
c.983T>G
c.1111T>G (p.Ser371Ala)
c.24124T>G (p.Ser8042Ala)
n.2087T>G
c.4174T>G (p.Ser1392Ala)
n.9031T>G
c.3277T>G (p.Ser1093Ala)
n.8923T>G
n.1953T>G
n.4361T>G
n.2176T>G
c.1804T>G (p.Ser602Ala)
c.25444T>G (p.Ser8482Ala)
c.25432T>G (p.Ser8478Ala)
c.25423T>G (p.Ser8475Ala)
c.25393T>G (p.Ser8465Ala)
c.25429T>G (p.Ser8477Ala)
c.25375T>G (p.Ser8459Ala)
c.25372T>G (p.Ser8458Ala)
c.25360T>G (p.Ser8454Ala)
c.25303T>G (p.Ser8435Ala)
c.25291T>G (p.Ser8431Ala)
c.25288T>G (p.Ser8430Ala)
c.25285T>G (p.Ser8429Ala)
c.25441T>G (p.Ser8481Ala)
c.25279T>G (p.Ser8427Ala)
c.23719T>G (p.Ser7907Ala)
c.23212T>G (p.Ser7738Ala)
c.18679T>G (p.Ser6227Ala)
c.1945T>G (p.Ser649Ala)
c.25417T>G (p.Ser8473Ala)
c.25366T>G (p.Ser8456Ala)
c.25219T>G (p.Ser8407Ala)
6g.152140069A>GCA366080445SYNE1c.1873T>C (p.Ser625Pro)
c.25339T>C (p.Ser8447Pro)
c.25195T>C (p.Ser8399Pro)
c.741T>C
c.1074T>C
c.983T>C
c.1111T>C (p.Ser371Pro)
c.24124T>C (p.Ser8042Pro)
n.2087T>C
c.4174T>C (p.Ser1392Pro)
n.9031T>C
c.3277T>C (p.Ser1093Pro)
n.8923T>C
n.1953T>C
n.4361T>C
n.2176T>C
c.1804T>C (p.Ser602Pro)
c.25444T>C (p.Ser8482Pro)
c.25432T>C (p.Ser8478Pro)
c.25423T>C (p.Ser8475Pro)
c.25393T>C (p.Ser8465Pro)
c.25429T>C (p.Ser8477Pro)
c.25375T>C (p.Ser8459Pro)
c.25372T>C (p.Ser8458Pro)
c.25360T>C (p.Ser8454Pro)
c.25303T>C (p.Ser8435Pro)
c.25291T>C (p.Ser8431Pro)
c.25288T>C (p.Ser8430Pro)
c.25285T>C (p.Ser8429Pro)
c.25441T>C (p.Ser8481Pro)
c.25279T>C (p.Ser8427Pro)
c.23719T>C (p.Ser7907Pro)
c.23212T>C (p.Ser7738Pro)
c.18679T>C (p.Ser6227Pro)
c.1945T>C (p.Ser649Pro)
c.25417T>C (p.Ser8473Pro)
c.25366T>C (p.Ser8456Pro)
c.25219T>C (p.Ser8407Pro)
6g.152140069A>TCA366080449SYNE1c.1873T>A (p.Ser625Thr)
c.25339T>A (p.Ser8447Thr)
c.25195T>A (p.Ser8399Thr)
c.741T>A
c.1074T>A
c.983T>A
c.1111T>A (p.Ser371Thr)
c.24124T>A (p.Ser8042Thr)
n.2087T>A
c.4174T>A (p.Ser1392Thr)
n.9031T>A
c.3277T>A (p.Ser1093Thr)
n.8923T>A
n.1953T>A
n.4361T>A
n.2176T>A
c.1804T>A (p.Ser602Thr)
c.25444T>A (p.Ser8482Thr)
c.25432T>A (p.Ser8478Thr)
c.25423T>A (p.Ser8475Thr)
c.25393T>A (p.Ser8465Thr)
c.25429T>A (p.Ser8477Thr)
c.25375T>A (p.Ser8459Thr)
c.25372T>A (p.Ser8458Thr)
c.25360T>A (p.Ser8454Thr)
c.25303T>A (p.Ser8435Thr)
c.25291T>A (p.Ser8431Thr)
c.25288T>A (p.Ser8430Thr)
c.25285T>A (p.Ser8429Thr)
c.25441T>A (p.Ser8481Thr)
c.25279T>A (p.Ser8427Thr)
c.23719T>A (p.Ser7907Thr)
c.23212T>A (p.Ser7738Thr)
c.18679T>A (p.Ser6227Thr)
c.1945T>A (p.Ser649Thr)
c.25417T>A (p.Ser8473Thr)
c.25366T>A (p.Ser8456Thr)
c.25219T>A (p.Ser8407Thr)
6g.152140070G>ACA452969908SYNE1c.1872C>T (p.Asn624=)
c.25338C>T (p.Asn8446=)
c.25194C>T (p.Asn8398=)
c.740C>T
c.1073C>T
c.982C>T
c.1110C>T (p.Asn370=)
c.24123C>T (p.Asn8041=)
n.2086C>T
c.4173C>T (p.Asn1391=)
n.9030C>T
c.3276C>T (p.Asn1092=)
n.8922C>T
n.1952C>T
n.4360C>T
n.2175C>T
c.1803C>T (p.Asn601=)
c.25443C>T (p.Asn8481=)
c.25431C>T (p.Asn8477=)
c.25422C>T (p.Asn8474=)
c.25392C>T (p.Asn8464=)
c.25428C>T (p.Asn8476=)
c.25374C>T (p.Asn8458=)
c.25371C>T (p.Asn8457=)
c.25359C>T (p.Asn8453=)
c.25302C>T (p.Asn8434=)
c.25290C>T (p.Asn8430=)
c.25287C>T (p.Asn8429=)
c.25284C>T (p.Asn8428=)
c.25440C>T (p.Asn8480=)
c.25278C>T (p.Asn8426=)
c.23718C>T (p.Asn7906=)
c.23211C>T (p.Asn7737=)
c.18678C>T (p.Asn6226=)
c.1944C>T (p.Asn648=)
c.25416C>T (p.Asn8472=)
c.25365C>T (p.Asn8455=)
c.25218C>T (p.Asn8406=)
6g.152140070G>CCA366080451SYNE1c.1872C>G (p.Asn624Lys)
c.25338C>G (p.Asn8446Lys)
c.25194C>G (p.Asn8398Lys)
c.740C>G
c.1073C>G
c.982C>G
c.1110C>G (p.Asn370Lys)
c.24123C>G (p.Asn8041Lys)
n.2086C>G
c.4173C>G (p.Asn1391Lys)
n.9030C>G
c.3276C>G (p.Asn1092Lys)
n.8922C>G
n.1952C>G
n.4360C>G
n.2175C>G
c.1803C>G (p.Asn601Lys)
c.25443C>G (p.Asn8481Lys)
c.25431C>G (p.Asn8477Lys)
c.25422C>G (p.Asn8474Lys)
c.25392C>G (p.Asn8464Lys)
c.25428C>G (p.Asn8476Lys)
c.25374C>G (p.Asn8458Lys)
c.25371C>G (p.Asn8457Lys)
c.25359C>G (p.Asn8453Lys)
c.25302C>G (p.Asn8434Lys)
c.25290C>G (p.Asn8430Lys)
c.25287C>G (p.Asn8429Lys)
c.25284C>G (p.Asn8428Lys)
c.25440C>G (p.Asn8480Lys)
c.25278C>G (p.Asn8426Lys)
c.23718C>G (p.Asn7906Lys)
c.23211C>G (p.Asn7737Lys)
c.18678C>G (p.Asn6226Lys)
c.1944C>G (p.Asn648Lys)
c.25416C>G (p.Asn8472Lys)
c.25365C>G (p.Asn8455Lys)
c.25218C>G (p.Asn8406Lys)
6g.152140070G>TCA366080453SYNE1c.1872C>A (p.Asn624Lys)
c.25338C>A (p.Asn8446Lys)
c.25194C>A (p.Asn8398Lys)
c.740C>A
c.1073C>A
c.982C>A
c.1110C>A (p.Asn370Lys)
c.24123C>A (p.Asn8041Lys)
n.2086C>A
c.4173C>A (p.Asn1391Lys)
n.9030C>A
c.3276C>A (p.Asn1092Lys)
n.8922C>A
n.1952C>A
n.4360C>A
n.2175C>A
c.1803C>A (p.Asn601Lys)
c.25443C>A (p.Asn8481Lys)
c.25431C>A (p.Asn8477Lys)
c.25422C>A (p.Asn8474Lys)
c.25392C>A (p.Asn8464Lys)
c.25428C>A (p.Asn8476Lys)
c.25374C>A (p.Asn8458Lys)
c.25371C>A (p.Asn8457Lys)
c.25359C>A (p.Asn8453Lys)
c.25302C>A (p.Asn8434Lys)
c.25290C>A (p.Asn8430Lys)
c.25287C>A (p.Asn8429Lys)
c.25284C>A (p.Asn8428Lys)
c.25440C>A (p.Asn8480Lys)
c.25278C>A (p.Asn8426Lys)
c.23718C>A (p.Asn7906Lys)
c.23211C>A (p.Asn7737Lys)
c.18678C>A (p.Asn6226Lys)
c.1944C>A (p.Asn648Lys)
c.25416C>A (p.Asn8472Lys)
c.25365C>A (p.Asn8455Lys)
c.25218C>A (p.Asn8406Lys)
6g.152140071T>ACA366080456SYNE1c.1871A>T (p.Asn624Ile)
c.25337A>T (p.Asn8446Ile)
c.25193A>T (p.Asn8398Ile)
c.739A>T
c.1072A>T
c.981A>T
c.1109A>T (p.Asn370Ile)
c.24122A>T (p.Asn8041Ile)
n.2085A>T
c.4172A>T (p.Asn1391Ile)
n.9029A>T
c.3275A>T (p.Asn1092Ile)
n.8921A>T
n.1951A>T
n.4359A>T
n.2174A>T
c.1802A>T (p.Asn601Ile)
c.25442A>T (p.Asn8481Ile)
c.25430A>T (p.Asn8477Ile)
c.25421A>T (p.Asn8474Ile)
c.25391A>T (p.Asn8464Ile)
c.25427A>T (p.Asn8476Ile)
c.25373A>T (p.Asn8458Ile)
c.25370A>T (p.Asn8457Ile)
c.25358A>T (p.Asn8453Ile)
c.25301A>T (p.Asn8434Ile)
c.25289A>T (p.Asn8430Ile)
c.25286A>T (p.Asn8429Ile)
c.25283A>T (p.Asn8428Ile)
c.25439A>T (p.Asn8480Ile)
c.25277A>T (p.Asn8426Ile)
c.23717A>T (p.Asn7906Ile)
c.23210A>T (p.Asn7737Ile)
c.18677A>T (p.Asn6226Ile)
c.1943A>T (p.Asn648Ile)
c.25415A>T (p.Asn8472Ile)
c.25364A>T (p.Asn8455Ile)
c.25217A>T (p.Asn8406Ile)
 gnomAD v4
6g.152140071T>CCA366080457SYNE1c.1871A>G (p.Asn624Ser)
c.25337A>G (p.Asn8446Ser)
c.25193A>G (p.Asn8398Ser)
c.739A>G
c.1072A>G
c.981A>G
c.1109A>G (p.Asn370Ser)
c.24122A>G (p.Asn8041Ser)
n.2085A>G
c.4172A>G (p.Asn1391Ser)
n.9029A>G
c.3275A>G (p.Asn1092Ser)
n.8921A>G
n.1951A>G
n.4359A>G
n.2174A>G
c.1802A>G (p.Asn601Ser)
c.25442A>G (p.Asn8481Ser)
c.25430A>G (p.Asn8477Ser)
c.25421A>G (p.Asn8474Ser)
c.25391A>G (p.Asn8464Ser)
c.25427A>G (p.Asn8476Ser)
c.25373A>G (p.Asn8458Ser)
c.25370A>G (p.Asn8457Ser)
c.25358A>G (p.Asn8453Ser)
c.25301A>G (p.Asn8434Ser)
c.25289A>G (p.Asn8430Ser)
c.25286A>G (p.Asn8429Ser)
c.25283A>G (p.Asn8428Ser)
c.25439A>G (p.Asn8480Ser)
c.25277A>G (p.Asn8426Ser)
c.23717A>G (p.Asn7906Ser)
c.23210A>G (p.Asn7737Ser)
c.18677A>G (p.Asn6226Ser)
c.1943A>G (p.Asn648Ser)
c.25415A>G (p.Asn8472Ser)
c.25364A>G (p.Asn8455Ser)
c.25217A>G (p.Asn8406Ser)
6g.152140071T>GCA366080461SYNE1c.1871A>C (p.Asn624Thr)
c.25337A>C (p.Asn8446Thr)
c.25193A>C (p.Asn8398Thr)
c.739A>C
c.1072A>C
c.981A>C
c.1109A>C (p.Asn370Thr)
c.24122A>C (p.Asn8041Thr)
n.2085A>C
c.4172A>C (p.Asn1391Thr)
n.9029A>C
c.3275A>C (p.Asn1092Thr)
n.8921A>C
n.1951A>C
n.4359A>C
n.2174A>C
c.1802A>C (p.Asn601Thr)
c.25442A>C (p.Asn8481Thr)
c.25430A>C (p.Asn8477Thr)
c.25421A>C (p.Asn8474Thr)
c.25391A>C (p.Asn8464Thr)
c.25427A>C (p.Asn8476Thr)
c.25373A>C (p.Asn8458Thr)
c.25370A>C (p.Asn8457Thr)
c.25358A>C (p.Asn8453Thr)
c.25301A>C (p.Asn8434Thr)
c.25289A>C (p.Asn8430Thr)
c.25286A>C (p.Asn8429Thr)
c.25283A>C (p.Asn8428Thr)
c.25439A>C (p.Asn8480Thr)
c.25277A>C (p.Asn8426Thr)
c.23717A>C (p.Asn7906Thr)
c.23210A>C (p.Asn7737Thr)
c.18677A>C (p.Asn6226Thr)
c.1943A>C (p.Asn648Thr)
c.25415A>C (p.Asn8472Thr)
c.25364A>C (p.Asn8455Thr)
c.25217A>C (p.Asn8406Thr)
6g.152140072T>ACA366080469SYNE1c.1870A>T (p.Asn624Tyr)
c.25336A>T (p.Asn8446Tyr)
c.25192A>T (p.Asn8398Tyr)
c.738A>T
c.1071A>T
c.980A>T
c.1108A>T (p.Asn370Tyr)
c.24121A>T (p.Asn8041Tyr)
n.2084A>T
c.4171A>T (p.Asn1391Tyr)
n.9028A>T
c.3274A>T (p.Asn1092Tyr)
n.8920A>T
n.1950A>T
n.4358A>T
n.2173A>T
c.1801A>T (p.Asn601Tyr)
c.25441A>T (p.Asn8481Tyr)
c.25429A>T (p.Asn8477Tyr)
c.25420A>T (p.Asn8474Tyr)
c.25390A>T (p.Asn8464Tyr)
c.25426A>T (p.Asn8476Tyr)
c.25372A>T (p.Asn8458Tyr)
c.25369A>T (p.Asn8457Tyr)
c.25357A>T (p.Asn8453Tyr)
c.25300A>T (p.Asn8434Tyr)
c.25288A>T (p.Asn8430Tyr)
c.25285A>T (p.Asn8429Tyr)
c.25282A>T (p.Asn8428Tyr)
c.25438A>T (p.Asn8480Tyr)
c.25276A>T (p.Asn8426Tyr)
c.23716A>T (p.Asn7906Tyr)
c.23209A>T (p.Asn7737Tyr)
c.18676A>T (p.Asn6226Tyr)
c.1942A>T (p.Asn648Tyr)
c.25414A>T (p.Asn8472Tyr)
c.25363A>T (p.Asn8455Tyr)
c.25216A>T (p.Asn8406Tyr)
6g.152140072T>CCA366080471SYNE1c.1870A>G (p.Asn624Asp)
c.25336A>G (p.Asn8446Asp)
c.25192A>G (p.Asn8398Asp)
c.738A>G
c.1071A>G
c.980A>G
c.1108A>G (p.Asn370Asp)
c.24121A>G (p.Asn8041Asp)
n.2084A>G
c.4171A>G (p.Asn1391Asp)
n.9028A>G
c.3274A>G (p.Asn1092Asp)
n.8920A>G
n.1950A>G
n.4358A>G
n.2173A>G
c.1801A>G (p.Asn601Asp)
c.25441A>G (p.Asn8481Asp)
c.25429A>G (p.Asn8477Asp)
c.25420A>G (p.Asn8474Asp)
c.25390A>G (p.Asn8464Asp)
c.25426A>G (p.Asn8476Asp)
c.25372A>G (p.Asn8458Asp)
c.25369A>G (p.Asn8457Asp)
c.25357A>G (p.Asn8453Asp)
c.25300A>G (p.Asn8434Asp)
c.25288A>G (p.Asn8430Asp)
c.25285A>G (p.Asn8429Asp)
c.25282A>G (p.Asn8428Asp)
c.25438A>G (p.Asn8480Asp)
c.25276A>G (p.Asn8426Asp)
c.23716A>G (p.Asn7906Asp)
c.23209A>G (p.Asn7737Asp)
c.18676A>G (p.Asn6226Asp)
c.1942A>G (p.Asn648Asp)
c.25414A>G (p.Asn8472Asp)
c.25363A>G (p.Asn8455Asp)
c.25216A>G (p.Asn8406Asp)
6g.152140072T>GCA366080474SYNE1c.1870A>C (p.Asn624His)
c.25336A>C (p.Asn8446His)
c.25192A>C (p.Asn8398His)
c.738A>C
c.1071A>C
c.980A>C
c.1108A>C (p.Asn370His)
c.24121A>C (p.Asn8041His)
n.2084A>C
c.4171A>C (p.Asn1391His)
n.9028A>C
c.3274A>C (p.Asn1092His)
n.8920A>C
n.1950A>C
n.4358A>C
n.2173A>C
c.1801A>C (p.Asn601His)
c.25441A>C (p.Asn8481His)
c.25429A>C (p.Asn8477His)
c.25420A>C (p.Asn8474His)
c.25390A>C (p.Asn8464His)
c.25426A>C (p.Asn8476His)
c.25372A>C (p.Asn8458His)
c.25369A>C (p.Asn8457His)
c.25357A>C (p.Asn8453His)
c.25300A>C (p.Asn8434His)
c.25288A>C (p.Asn8430His)
c.25285A>C (p.Asn8429His)
c.25282A>C (p.Asn8428His)
c.25438A>C (p.Asn8480His)
c.25276A>C (p.Asn8426His)
c.23716A>C (p.Asn7906His)
c.23209A>C (p.Asn7737His)
c.18676A>C (p.Asn6226His)
c.1942A>C (p.Asn648His)
c.25414A>C (p.Asn8472His)
c.25363A>C (p.Asn8455His)
c.25216A>C (p.Asn8406His)
6g.152140073A>CCA366080477SYNE1c.1869T>G (p.Phe623Leu)
c.25335T>G (p.Phe8445Leu)
c.25191T>G (p.Phe8397Leu)
c.737T>G
c.1070T>G
c.979T>G
c.1107T>G (p.Phe369Leu)
c.24120T>G (p.Phe8040Leu)
n.2083T>G
c.4170T>G (p.Phe1390Leu)
n.9027T>G
c.3273T>G (p.Phe1091Leu)
n.8919T>G
n.1949T>G
n.4357T>G
n.2172T>G
c.1800T>G (p.Phe600Leu)
c.25440T>G (p.Phe8480Leu)
c.25428T>G (p.Phe8476Leu)
c.25419T>G (p.Phe8473Leu)
c.25389T>G (p.Phe8463Leu)
c.25425T>G (p.Phe8475Leu)
c.25371T>G (p.Phe8457Leu)
c.25368T>G (p.Phe8456Leu)
c.25356T>G (p.Phe8452Leu)
c.25299T>G (p.Phe8433Leu)
c.25287T>G (p.Phe8429Leu)
c.25284T>G (p.Phe8428Leu)
c.25281T>G (p.Phe8427Leu)
c.25437T>G (p.Phe8479Leu)
c.25275T>G (p.Phe8425Leu)
c.23715T>G (p.Phe7905Leu)
c.23208T>G (p.Phe7736Leu)
c.18675T>G (p.Phe6225Leu)
c.1941T>G (p.Phe647Leu)
c.25413T>G (p.Phe8471Leu)
c.25362T>G (p.Phe8454Leu)
c.25215T>G (p.Phe8405Leu)
6g.152140073A>GCA452969910SYNE1c.1869T>C (p.Phe623=)
c.25335T>C (p.Phe8445=)
c.25191T>C (p.Phe8397=)
c.737T>C
c.1070T>C
c.979T>C
c.1107T>C (p.Phe369=)
c.24120T>C (p.Phe8040=)
n.2083T>C
c.4170T>C (p.Phe1390=)
n.9027T>C
c.3273T>C (p.Phe1091=)
n.8919T>C
n.1949T>C
n.4357T>C
n.2172T>C
c.1800T>C (p.Phe600=)
c.25440T>C (p.Phe8480=)
c.25428T>C (p.Phe8476=)
c.25419T>C (p.Phe8473=)
c.25389T>C (p.Phe8463=)
c.25425T>C (p.Phe8475=)
c.25371T>C (p.Phe8457=)
c.25368T>C (p.Phe8456=)
c.25356T>C (p.Phe8452=)
c.25299T>C (p.Phe8433=)
c.25287T>C (p.Phe8429=)
c.25284T>C (p.Phe8428=)
c.25281T>C (p.Phe8427=)
c.25437T>C (p.Phe8479=)
c.25275T>C (p.Phe8425=)
c.23715T>C (p.Phe7905=)
c.23208T>C (p.Phe7736=)
c.18675T>C (p.Phe6225=)
c.1941T>C (p.Phe647=)
c.25413T>C (p.Phe8471=)
c.25362T>C (p.Phe8454=)
c.25215T>C (p.Phe8405=)
6g.152140073A>TCA366080480SYNE1c.1869T>A (p.Phe623Leu)
c.25335T>A (p.Phe8445Leu)
c.25191T>A (p.Phe8397Leu)
c.737T>A
c.1070T>A
c.979T>A
c.1107T>A (p.Phe369Leu)
c.24120T>A (p.Phe8040Leu)
n.2083T>A
c.4170T>A (p.Phe1390Leu)
n.9027T>A
c.3273T>A (p.Phe1091Leu)
n.8919T>A
n.1949T>A
n.4357T>A
n.2172T>A
c.1800T>A (p.Phe600Leu)
c.25440T>A (p.Phe8480Leu)
c.25428T>A (p.Phe8476Leu)
c.25419T>A (p.Phe8473Leu)
c.25389T>A (p.Phe8463Leu)
c.25425T>A (p.Phe8475Leu)
c.25371T>A (p.Phe8457Leu)
c.25368T>A (p.Phe8456Leu)
c.25356T>A (p.Phe8452Leu)
c.25299T>A (p.Phe8433Leu)
c.25287T>A (p.Phe8429Leu)
c.25284T>A (p.Phe8428Leu)
c.25281T>A (p.Phe8427Leu)
c.25437T>A (p.Phe8479Leu)
c.25275T>A (p.Phe8425Leu)
c.23715T>A (p.Phe7905Leu)
c.23208T>A (p.Phe7736Leu)
c.18675T>A (p.Phe6225Leu)
c.1941T>A (p.Phe647Leu)
c.25413T>A (p.Phe8471Leu)
c.25362T>A (p.Phe8454Leu)
c.25215T>A (p.Phe8405Leu)
6g.152140074A>CCA366080483SYNE1c.1868T>G (p.Phe623Cys)
c.25334T>G (p.Phe8445Cys)
c.25190T>G (p.Phe8397Cys)
c.736T>G
c.1069T>G
c.978T>G
c.1106T>G (p.Phe369Cys)
c.24119T>G (p.Phe8040Cys)
n.2082T>G
c.4169T>G (p.Phe1390Cys)
n.9026T>G
c.3272T>G (p.Phe1091Cys)
n.8918T>G
n.1948T>G
n.4356T>G
n.2171T>G
c.1799T>G (p.Phe600Cys)
c.25439T>G (p.Phe8480Cys)
c.25427T>G (p.Phe8476Cys)
c.25418T>G (p.Phe8473Cys)
c.25388T>G (p.Phe8463Cys)
c.25424T>G (p.Phe8475Cys)
c.25370T>G (p.Phe8457Cys)
c.25367T>G (p.Phe8456Cys)
c.25355T>G (p.Phe8452Cys)
c.25298T>G (p.Phe8433Cys)
c.25286T>G (p.Phe8429Cys)
c.25283T>G (p.Phe8428Cys)
c.25280T>G (p.Phe8427Cys)
c.25436T>G (p.Phe8479Cys)
c.25274T>G (p.Phe8425Cys)
c.23714T>G (p.Phe7905Cys)
c.23207T>G (p.Phe7736Cys)
c.18674T>G (p.Phe6225Cys)
c.1940T>G (p.Phe647Cys)
c.25412T>G (p.Phe8471Cys)
c.25361T>G (p.Phe8454Cys)
c.25214T>G (p.Phe8405Cys)
6g.152140074A>GCA366080489SYNE1c.1868T>C (p.Phe623Ser)
c.25334T>C (p.Phe8445Ser)
c.25190T>C (p.Phe8397Ser)
c.736T>C
c.1069T>C
c.978T>C
c.1106T>C (p.Phe369Ser)
c.24119T>C (p.Phe8040Ser)
n.2082T>C
c.4169T>C (p.Phe1390Ser)
n.9026T>C
c.3272T>C (p.Phe1091Ser)
n.8918T>C
n.1948T>C
n.4356T>C
n.2171T>C
c.1799T>C (p.Phe600Ser)
c.25439T>C (p.Phe8480Ser)
c.25427T>C (p.Phe8476Ser)
c.25418T>C (p.Phe8473Ser)
c.25388T>C (p.Phe8463Ser)
c.25424T>C (p.Phe8475Ser)
c.25370T>C (p.Phe8457Ser)
c.25367T>C (p.Phe8456Ser)
c.25355T>C (p.Phe8452Ser)
c.25298T>C (p.Phe8433Ser)
c.25286T>C (p.Phe8429Ser)
c.25283T>C (p.Phe8428Ser)
c.25280T>C (p.Phe8427Ser)
c.25436T>C (p.Phe8479Ser)
c.25274T>C (p.Phe8425Ser)
c.23714T>C (p.Phe7905Ser)
c.23207T>C (p.Phe7736Ser)
c.18674T>C (p.Phe6225Ser)
c.1940T>C (p.Phe647Ser)
c.25412T>C (p.Phe8471Ser)
c.25361T>C (p.Phe8454Ser)
c.25214T>C (p.Phe8405Ser)
6g.152140074A>TCA366080486SYNE1c.1868T>A (p.Phe623Tyr)
c.25334T>A (p.Phe8445Tyr)
c.25190T>A (p.Phe8397Tyr)
c.736T>A
c.1069T>A
c.978T>A
c.1106T>A (p.Phe369Tyr)
c.24119T>A (p.Phe8040Tyr)
n.2082T>A
c.4169T>A (p.Phe1390Tyr)
n.9026T>A
c.3272T>A (p.Phe1091Tyr)
n.8918T>A
n.1948T>A
n.4356T>A
n.2171T>A
c.1799T>A (p.Phe600Tyr)
c.25439T>A (p.Phe8480Tyr)
c.25427T>A (p.Phe8476Tyr)
c.25418T>A (p.Phe8473Tyr)
c.25388T>A (p.Phe8463Tyr)
c.25424T>A (p.Phe8475Tyr)
c.25370T>A (p.Phe8457Tyr)
c.25367T>A (p.Phe8456Tyr)
c.25355T>A (p.Phe8452Tyr)
c.25298T>A (p.Phe8433Tyr)
c.25286T>A (p.Phe8429Tyr)
c.25283T>A (p.Phe8428Tyr)
c.25280T>A (p.Phe8427Tyr)
c.25436T>A (p.Phe8479Tyr)
c.25274T>A (p.Phe8425Tyr)
c.23714T>A (p.Phe7905Tyr)
c.23207T>A (p.Phe7736Tyr)
c.18674T>A (p.Phe6225Tyr)
c.1940T>A (p.Phe647Tyr)
c.25412T>A (p.Phe8471Tyr)
c.25361T>A (p.Phe8454Tyr)
c.25214T>A (p.Phe8405Tyr)
6g.152140075A=CA1673206339SYNE1c.1867T= (p.Phe623=)
c.25333T= (p.Phe8445=)
c.25189T= (p.Phe8397=)
c.735T=
c.1068T=
c.977T=
c.1105T= (p.Phe369=)
c.24118T= (p.Phe8040=)
n.2081T=
c.4168T= (p.Phe1390=)
n.9025T=
c.3271T= (p.Phe1091=)
n.8917T=
n.1947T=
n.4355T=
n.2170T=
c.1798T= (p.Phe600=)
c.25438T= (p.Phe8480=)
c.25426T= (p.Phe8476=)
c.25417T= (p.Phe8473=)
c.25387T= (p.Phe8463=)
c.25423T= (p.Phe8475=)
c.25369T= (p.Phe8457=)
c.25366T= (p.Phe8456=)
c.25354T= (p.Phe8452=)
c.25297T= (p.Phe8433=)
c.25285T= (p.Phe8429=)
c.25282T= (p.Phe8428=)
c.25279T= (p.Phe8427=)
c.25435T= (p.Phe8479=)
c.25273T= (p.Phe8425=)
c.23713T= (p.Phe7905=)
c.23206T= (p.Phe7736=)
c.18673T= (p.Phe6225=)
c.1939T= (p.Phe647=)
c.25411T= (p.Phe8471=)
c.25360T= (p.Phe8454=)
c.25213T= (p.Phe8405=)
6g.152140075A>CCA366080492SYNE1c.1867T>G (p.Phe623Val)
c.25333T>G (p.Phe8445Val)
c.25189T>G (p.Phe8397Val)
c.735T>G
c.1068T>G
c.977T>G
c.1105T>G (p.Phe369Val)
c.24118T>G (p.Phe8040Val)
n.2081T>G
c.4168T>G (p.Phe1390Val)
n.9025T>G
c.3271T>G (p.Phe1091Val)
n.8917T>G
n.1947T>G
n.4355T>G
n.2170T>G
c.1798T>G (p.Phe600Val)
c.25438T>G (p.Phe8480Val)
c.25426T>G (p.Phe8476Val)
c.25417T>G (p.Phe8473Val)
c.25387T>G (p.Phe8463Val)
c.25423T>G (p.Phe8475Val)
c.25369T>G (p.Phe8457Val)
c.25366T>G (p.Phe8456Val)
c.25354T>G (p.Phe8452Val)
c.25297T>G (p.Phe8433Val)
c.25285T>G (p.Phe8429Val)
c.25282T>G (p.Phe8428Val)
c.25279T>G (p.Phe8427Val)
c.25435T>G (p.Phe8479Val)
c.25273T>G (p.Phe8425Val)
c.23713T>G (p.Phe7905Val)
c.23206T>G (p.Phe7736Val)
c.18673T>G (p.Phe6225Val)
c.1939T>G (p.Phe647Val)
c.25411T>G (p.Phe8471Val)
c.25360T>G (p.Phe8454Val)
c.25213T>G (p.Phe8405Val)
 dbSNP
6g.152140075A>GCA366080493SYNE1c.1867T>C (p.Phe623Leu)
c.25333T>C (p.Phe8445Leu)
c.25189T>C (p.Phe8397Leu)
c.735T>C
c.1068T>C
c.977T>C
c.1105T>C (p.Phe369Leu)
c.24118T>C (p.Phe8040Leu)
n.2081T>C
c.4168T>C (p.Phe1390Leu)
n.9025T>C
c.3271T>C (p.Phe1091Leu)
n.8917T>C
n.1947T>C
n.4355T>C
n.2170T>C
c.1798T>C (p.Phe600Leu)
c.25438T>C (p.Phe8480Leu)
c.25426T>C (p.Phe8476Leu)
c.25417T>C (p.Phe8473Leu)
c.25387T>C (p.Phe8463Leu)
c.25423T>C (p.Phe8475Leu)
c.25369T>C (p.Phe8457Leu)
c.25366T>C (p.Phe8456Leu)
c.25354T>C (p.Phe8452Leu)
c.25297T>C (p.Phe8433Leu)
c.25285T>C (p.Phe8429Leu)
c.25282T>C (p.Phe8428Leu)
c.25279T>C (p.Phe8427Leu)
c.25435T>C (p.Phe8479Leu)
c.25273T>C (p.Phe8425Leu)
c.23713T>C (p.Phe7905Leu)
c.23206T>C (p.Phe7736Leu)
c.18673T>C (p.Phe6225Leu)
c.1939T>C (p.Phe647Leu)
c.25411T>C (p.Phe8471Leu)
c.25360T>C (p.Phe8454Leu)
c.25213T>C (p.Phe8405Leu)
6g.152140075A>TCA366080498SYNE1c.1867T>A (p.Phe623Ile)
c.25333T>A (p.Phe8445Ile)
c.25189T>A (p.Phe8397Ile)
c.735T>A
c.1068T>A
c.977T>A
c.1105T>A (p.Phe369Ile)
c.24118T>A (p.Phe8040Ile)
n.2081T>A
c.4168T>A (p.Phe1390Ile)
n.9025T>A
c.3271T>A (p.Phe1091Ile)
n.8917T>A
n.1947T>A
n.4355T>A
n.2170T>A
c.1798T>A (p.Phe600Ile)
c.25438T>A (p.Phe8480Ile)
c.25426T>A (p.Phe8476Ile)
c.25417T>A (p.Phe8473Ile)
c.25387T>A (p.Phe8463Ile)
c.25423T>A (p.Phe8475Ile)
c.25369T>A (p.Phe8457Ile)
c.25366T>A (p.Phe8456Ile)
c.25354T>A (p.Phe8452Ile)
c.25297T>A (p.Phe8433Ile)
c.25285T>A (p.Phe8429Ile)
c.25282T>A (p.Phe8428Ile)
c.25279T>A (p.Phe8427Ile)
c.25435T>A (p.Phe8479Ile)
c.25273T>A (p.Phe8425Ile)
c.23713T>A (p.Phe7905Ile)
c.23206T>A (p.Phe7736Ile)
c.18673T>A (p.Phe6225Ile)
c.1939T>A (p.Phe647Ile)
c.25411T>A (p.Phe8471Ile)
c.25360T>A (p.Phe8454Ile)
c.25213T>A (p.Phe8405Ile)
6g.152140076C>ACA366080501SYNE1c.1866G>T (p.Gln622His)
c.25332G>T (p.Gln8444His)
c.25188G>T (p.Gln8396His)
c.734G>T
c.1067G>T
c.976G>T
c.1104G>T (p.Gln368His)
c.24117G>T (p.Gln8039His)
n.2080G>T
c.4167G>T (p.Gln1389His)
n.9024G>T
c.3270G>T (p.Gln1090His)
n.8916G>T
n.1946G>T
n.4354G>T
n.2169G>T
c.1797G>T (p.Gln599His)
c.25437G>T (p.Gln8479His)
c.25425G>T (p.Gln8475His)
c.25416G>T (p.Gln8472His)
c.25386G>T (p.Gln8462His)
c.25422G>T (p.Gln8474His)
c.25368G>T (p.Gln8456His)
c.25365G>T (p.Gln8455His)
c.25353G>T (p.Gln8451His)
c.25296G>T (p.Gln8432His)
c.25284G>T (p.Gln8428His)
c.25281G>T (p.Gln8427His)
c.25278G>T (p.Gln8426His)
c.25434G>T (p.Gln8478His)
c.25272G>T (p.Gln8424His)
c.23712G>T (p.Gln7904His)
c.23205G>T (p.Gln7735His)
c.18672G>T (p.Gln6224His)
c.1938G>T (p.Gln646His)
c.25410G>T (p.Gln8470His)
c.25359G>T (p.Gln8453His)
c.25212G>T (p.Gln8404His)
6g.152140076C=CA1673206341SYNE1c.1866G= (p.Gln622=)
c.25332G= (p.Gln8444=)
c.25188G= (p.Gln8396=)
c.734G=
c.1067G=
c.976G=
c.1104G= (p.Gln368=)
c.24117G= (p.Gln8039=)
n.2080G=
c.4167G= (p.Gln1389=)
n.9024G=
c.3270G= (p.Gln1090=)
n.8916G=
n.1946G=
n.4354G=
n.2169G=
c.1797G= (p.Gln599=)
c.25437G= (p.Gln8479=)
c.25425G= (p.Gln8475=)
c.25416G= (p.Gln8472=)
c.25386G= (p.Gln8462=)
c.25422G= (p.Gln8474=)
c.25368G= (p.Gln8456=)
c.25365G= (p.Gln8455=)
c.25353G= (p.Gln8451=)
c.25296G= (p.Gln8432=)
c.25284G= (p.Gln8428=)
c.25281G= (p.Gln8427=)
c.25278G= (p.Gln8426=)
c.25434G= (p.Gln8478=)
c.25272G= (p.Gln8424=)
c.23712G= (p.Gln7904=)
c.23205G= (p.Gln7735=)
c.18672G= (p.Gln6224=)
c.1938G= (p.Gln646=)
c.25410G= (p.Gln8470=)
c.25359G= (p.Gln8453=)
c.25212G= (p.Gln8404=)
6g.152140076C>GCA366080502SYNE1c.1866G>C (p.Gln622His)
c.25332G>C (p.Gln8444His)
c.25188G>C (p.Gln8396His)
c.734G>C
c.1067G>C
c.976G>C
c.1104G>C (p.Gln368His)
c.24117G>C (p.Gln8039His)
n.2080G>C
c.4167G>C (p.Gln1389His)
n.9024G>C
c.3270G>C (p.Gln1090His)
n.8916G>C
n.1946G>C
n.4354G>C
n.2169G>C
c.1797G>C (p.Gln599His)
c.25437G>C (p.Gln8479His)
c.25425G>C (p.Gln8475His)
c.25416G>C (p.Gln8472His)
c.25386G>C (p.Gln8462His)
c.25422G>C (p.Gln8474His)
c.25368G>C (p.Gln8456His)
c.25365G>C (p.Gln8455His)
c.25353G>C (p.Gln8451His)
c.25296G>C (p.Gln8432His)
c.25284G>C (p.Gln8428His)
c.25281G>C (p.Gln8427His)
c.25278G>C (p.Gln8426His)
c.25434G>C (p.Gln8478His)
c.25272G>C (p.Gln8424His)
c.23712G>C (p.Gln7904His)
c.23205G>C (p.Gln7735His)
c.18672G>C (p.Gln6224His)
c.1938G>C (p.Gln646His)
c.25410G>C (p.Gln8470His)
c.25359G>C (p.Gln8453His)
c.25212G>C (p.Gln8404His)
6g.152140076C>TCA452969914SYNE1c.1866G>A (p.Gln622=)
c.25332G>A (p.Gln8444=)
c.25188G>A (p.Gln8396=)
c.734G>A
c.1067G>A
c.976G>A
c.1104G>A (p.Gln368=)
c.24117G>A (p.Gln8039=)
n.2080G>A
c.4167G>A (p.Gln1389=)
n.9024G>A
c.3270G>A (p.Gln1090=)
n.8916G>A
n.1946G>A
n.4354G>A
n.2169G>A
c.1797G>A (p.Gln599=)
c.25437G>A (p.Gln8479=)
c.25425G>A (p.Gln8475=)
c.25416G>A (p.Gln8472=)
c.25386G>A (p.Gln8462=)
c.25422G>A (p.Gln8474=)
c.25368G>A (p.Gln8456=)
c.25365G>A (p.Gln8455=)
c.25353G>A (p.Gln8451=)
c.25296G>A (p.Gln8432=)
c.25284G>A (p.Gln8428=)
c.25281G>A (p.Gln8427=)
c.25278G>A (p.Gln8426=)
c.25434G>A (p.Gln8478=)
c.25272G>A (p.Gln8424=)
c.23712G>A (p.Gln7904=)
c.23205G>A (p.Gln7735=)
c.18672G>A (p.Gln6224=)
c.1938G>A (p.Gln646=)
c.25410G>A (p.Gln8470=)
c.25359G>A (p.Gln8453=)
c.25212G>A (p.Gln8404=)
 dbSNP
6g.152140077T>ACA366080506SYNE1c.1865A>T (p.Gln622Leu)
c.25331A>T (p.Gln8444Leu)
c.25187A>T (p.Gln8396Leu)
c.733A>T
c.1066A>T
c.975A>T
c.1103A>T (p.Gln368Leu)
c.24116A>T (p.Gln8039Leu)
n.2079A>T
c.4166A>T (p.Gln1389Leu)
n.9023A>T
c.3269A>T (p.Gln1090Leu)
n.8915A>T
n.1945A>T
n.4353A>T
n.2168A>T
c.1796A>T (p.Gln599Leu)
c.25436A>T (p.Gln8479Leu)
c.25424A>T (p.Gln8475Leu)
c.25415A>T (p.Gln8472Leu)
c.25385A>T (p.Gln8462Leu)
c.25421A>T (p.Gln8474Leu)
c.25367A>T (p.Gln8456Leu)
c.25364A>T (p.Gln8455Leu)
c.25352A>T (p.Gln8451Leu)
c.25295A>T (p.Gln8432Leu)
c.25283A>T (p.Gln8428Leu)
c.25280A>T (p.Gln8427Leu)
c.25277A>T (p.Gln8426Leu)
c.25433A>T (p.Gln8478Leu)
c.25271A>T (p.Gln8424Leu)
c.23711A>T (p.Gln7904Leu)
c.23204A>T (p.Gln7735Leu)
c.18671A>T (p.Gln6224Leu)
c.1937A>T (p.Gln646Leu)
c.25409A>T (p.Gln8470Leu)
c.25358A>T (p.Gln8453Leu)
c.25211A>T (p.Gln8404Leu)
6g.152140077T>CCA366080508SYNE1c.1865A>G (p.Gln622Arg)
c.25331A>G (p.Gln8444Arg)
c.25187A>G (p.Gln8396Arg)
c.733A>G
c.1066A>G
c.975A>G
c.1103A>G (p.Gln368Arg)
c.24116A>G (p.Gln8039Arg)
n.2079A>G
c.4166A>G (p.Gln1389Arg)
n.9023A>G
c.3269A>G (p.Gln1090Arg)
n.8915A>G
n.1945A>G
n.4353A>G
n.2168A>G
c.1796A>G (p.Gln599Arg)
c.25436A>G (p.Gln8479Arg)
c.25424A>G (p.Gln8475Arg)
c.25415A>G (p.Gln8472Arg)
c.25385A>G (p.Gln8462Arg)
c.25421A>G (p.Gln8474Arg)
c.25367A>G (p.Gln8456Arg)
c.25364A>G (p.Gln8455Arg)
c.25352A>G (p.Gln8451Arg)
c.25295A>G (p.Gln8432Arg)
c.25283A>G (p.Gln8428Arg)
c.25280A>G (p.Gln8427Arg)
c.25277A>G (p.Gln8426Arg)
c.25433A>G (p.Gln8478Arg)
c.25271A>G (p.Gln8424Arg)
c.23711A>G (p.Gln7904Arg)
c.23204A>G (p.Gln7735Arg)
c.18671A>G (p.Gln6224Arg)
c.1937A>G (p.Gln646Arg)
c.25409A>G (p.Gln8470Arg)
c.25358A>G (p.Gln8453Arg)
c.25211A>G (p.Gln8404Arg)
6g.152140077T>GCA366080511SYNE1c.1865A>C (p.Gln622Pro)
c.25331A>C (p.Gln8444Pro)
c.25187A>C (p.Gln8396Pro)
c.733A>C
c.1066A>C
c.975A>C
c.1103A>C (p.Gln368Pro)
c.24116A>C (p.Gln8039Pro)
n.2079A>C
c.4166A>C (p.Gln1389Pro)
n.9023A>C
c.3269A>C (p.Gln1090Pro)
n.8915A>C
n.1945A>C
n.4353A>C
n.2168A>C
c.1796A>C (p.Gln599Pro)
c.25436A>C (p.Gln8479Pro)
c.25424A>C (p.Gln8475Pro)
c.25415A>C (p.Gln8472Pro)
c.25385A>C (p.Gln8462Pro)
c.25421A>C (p.Gln8474Pro)
c.25367A>C (p.Gln8456Pro)
c.25364A>C (p.Gln8455Pro)
c.25352A>C (p.Gln8451Pro)
c.25295A>C (p.Gln8432Pro)
c.25283A>C (p.Gln8428Pro)
c.25280A>C (p.Gln8427Pro)
c.25277A>C (p.Gln8426Pro)
c.25433A>C (p.Gln8478Pro)
c.25271A>C (p.Gln8424Pro)
c.23711A>C (p.Gln7904Pro)
c.23204A>C (p.Gln7735Pro)
c.18671A>C (p.Gln6224Pro)
c.1937A>C (p.Gln646Pro)
c.25409A>C (p.Gln8470Pro)
c.25358A>C (p.Gln8453Pro)
c.25211A>C (p.Gln8404Pro)
6g.152140078G>ACA366080515SYNE1c.1864C>T (p.Gln622Ter)
c.25330C>T (p.Gln8444Ter)
c.25186C>T (p.Gln8396Ter)
c.732C>T
c.1065C>T
c.974C>T
c.1102C>T (p.Gln368Ter)
c.24115C>T (p.Gln8039Ter)
n.2078C>T
c.4165C>T (p.Gln1389Ter)
n.9022C>T
c.3268C>T (p.Gln1090Ter)
n.8914C>T
n.1944C>T
n.4352C>T
n.2167C>T
c.1795C>T (p.Gln599Ter)
c.25435C>T (p.Gln8479Ter)
c.25423C>T (p.Gln8475Ter)
c.25414C>T (p.Gln8472Ter)
c.25384C>T (p.Gln8462Ter)
c.25420C>T (p.Gln8474Ter)
c.25366C>T (p.Gln8456Ter)
c.25363C>T (p.Gln8455Ter)
c.25351C>T (p.Gln8451Ter)
c.25294C>T (p.Gln8432Ter)
c.25282C>T (p.Gln8428Ter)
c.25279C>T (p.Gln8427Ter)
c.25276C>T (p.Gln8426Ter)
c.25432C>T (p.Gln8478Ter)
c.25270C>T (p.Gln8424Ter)
c.23710C>T (p.Gln7904Ter)
c.23203C>T (p.Gln7735Ter)
c.18670C>T (p.Gln6224Ter)
c.1936C>T (p.Gln646Ter)
c.25408C>T (p.Gln8470Ter)
c.25357C>T (p.Gln8453Ter)
c.25210C>T (p.Gln8404Ter)
6g.152140078G>CCA366080518SYNE1c.1864C>G (p.Gln622Glu)
c.25330C>G (p.Gln8444Glu)
c.25186C>G (p.Gln8396Glu)
c.732C>G
c.1065C>G
c.974C>G
c.1102C>G (p.Gln368Glu)
c.24115C>G (p.Gln8039Glu)
n.2078C>G
c.4165C>G (p.Gln1389Glu)
n.9022C>G
c.3268C>G (p.Gln1090Glu)
n.8914C>G
n.1944C>G
n.4352C>G
n.2167C>G
c.1795C>G (p.Gln599Glu)
c.25435C>G (p.Gln8479Glu)
c.25423C>G (p.Gln8475Glu)
c.25414C>G (p.Gln8472Glu)
c.25384C>G (p.Gln8462Glu)
c.25420C>G (p.Gln8474Glu)
c.25366C>G (p.Gln8456Glu)
c.25363C>G (p.Gln8455Glu)
c.25351C>G (p.Gln8451Glu)
c.25294C>G (p.Gln8432Glu)
c.25282C>G (p.Gln8428Glu)
c.25279C>G (p.Gln8427Glu)
c.25276C>G (p.Gln8426Glu)
c.25432C>G (p.Gln8478Glu)
c.25270C>G (p.Gln8424Glu)
c.23710C>G (p.Gln7904Glu)
c.23203C>G (p.Gln7735Glu)
c.18670C>G (p.Gln6224Glu)
c.1936C>G (p.Gln646Glu)
c.25408C>G (p.Gln8470Glu)
c.25357C>G (p.Gln8453Glu)
c.25210C>G (p.Gln8404Glu)
6g.152140078G>TCA366080520SYNE1c.1864C>A (p.Gln622Lys)
c.25330C>A (p.Gln8444Lys)
c.25186C>A (p.Gln8396Lys)
c.732C>A
c.1065C>A
c.974C>A
c.1102C>A (p.Gln368Lys)
c.24115C>A (p.Gln8039Lys)
n.2078C>A
c.4165C>A (p.Gln1389Lys)
n.9022C>A
c.3268C>A (p.Gln1090Lys)
n.8914C>A
n.1944C>A
n.4352C>A
n.2167C>A
c.1795C>A (p.Gln599Lys)
c.25435C>A (p.Gln8479Lys)
c.25423C>A (p.Gln8475Lys)
c.25414C>A (p.Gln8472Lys)
c.25384C>A (p.Gln8462Lys)
c.25420C>A (p.Gln8474Lys)
c.25366C>A (p.Gln8456Lys)
c.25363C>A (p.Gln8455Lys)
c.25351C>A (p.Gln8451Lys)
c.25294C>A (p.Gln8432Lys)
c.25282C>A (p.Gln8428Lys)
c.25279C>A (p.Gln8427Lys)
c.25276C>A (p.Gln8426Lys)
c.25432C>A (p.Gln8478Lys)
c.25270C>A (p.Gln8424Lys)
c.23710C>A (p.Gln7904Lys)
c.23203C>A (p.Gln7735Lys)
c.18670C>A (p.Gln6224Lys)
c.1936C>A (p.Gln646Lys)
c.25408C>A (p.Gln8470Lys)
c.25357C>A (p.Gln8453Lys)
c.25210C>A (p.Gln8404Lys)
6g.152140079C>ACA366080526SYNE1c.1863G>T (p.Gln621His)
c.25329G>T (p.Gln8443His)
c.25185G>T (p.Gln8395His)
c.731G>T
c.1064G>T
c.973G>T
c.1101G>T (p.Gln367His)
c.24114G>T (p.Gln8038His)
n.2077G>T
c.4164G>T (p.Gln1388His)
n.9021G>T
c.3267G>T (p.Gln1089His)
n.8913G>T
n.1943G>T
n.4351G>T
n.2166G>T
c.1794G>T (p.Gln598His)
c.25434G>T (p.Gln8478His)
c.25422G>T (p.Gln8474His)
c.25413G>T (p.Gln8471His)
c.25383G>T (p.Gln8461His)
c.25419G>T (p.Gln8473His)
c.25365G>T (p.Gln8455His)
c.25362G>T (p.Gln8454His)
c.25350G>T (p.Gln8450His)
c.25293G>T (p.Gln8431His)
c.25281G>T (p.Gln8427His)
c.25278G>T (p.Gln8426His)
c.25275G>T (p.Gln8425His)
c.25431G>T (p.Gln8477His)
c.25269G>T (p.Gln8423His)
c.23709G>T (p.Gln7903His)
c.23202G>T (p.Gln7734His)
c.18669G>T (p.Gln6223His)
c.1935G>T (p.Gln645His)
c.25407G>T (p.Gln8469His)
c.25356G>T (p.Gln8452His)
c.25209G>T (p.Gln8403His)
 dbSNP gnomAD v3 gnomAD v4
6g.152140079C=CA1673206344SYNE1c.1863G= (p.Gln621=)
c.25329G= (p.Gln8443=)
c.25185G= (p.Gln8395=)
c.731G=
c.1064G=
c.973G=
c.1101G= (p.Gln367=)
c.24114G= (p.Gln8038=)
n.2077G=
c.4164G= (p.Gln1388=)
n.9021G=
c.3267G= (p.Gln1089=)
n.8913G=
n.1943G=
n.4351G=
n.2166G=
c.1794G= (p.Gln598=)
c.25434G= (p.Gln8478=)
c.25422G= (p.Gln8474=)
c.25413G= (p.Gln8471=)
c.25383G= (p.Gln8461=)
c.25419G= (p.Gln8473=)
c.25365G= (p.Gln8455=)
c.25362G= (p.Gln8454=)
c.25350G= (p.Gln8450=)
c.25293G= (p.Gln8431=)
c.25281G= (p.Gln8427=)
c.25278G= (p.Gln8426=)
c.25275G= (p.Gln8425=)
c.25431G= (p.Gln8477=)
c.25269G= (p.Gln8423=)
c.23709G= (p.Gln7903=)
c.23202G= (p.Gln7734=)
c.18669G= (p.Gln6223=)
c.1935G= (p.Gln645=)
c.25407G= (p.Gln8469=)
c.25356G= (p.Gln8452=)
c.25209G= (p.Gln8403=)
6g.152140079C>GCA366080523SYNE1c.1863G>C (p.Gln621His)
c.25329G>C (p.Gln8443His)
c.25185G>C (p.Gln8395His)
c.731G>C
c.1064G>C
c.973G>C
c.1101G>C (p.Gln367His)
c.24114G>C (p.Gln8038His)
n.2077G>C
c.4164G>C (p.Gln1388His)
n.9021G>C
c.3267G>C (p.Gln1089His)
n.8913G>C
n.1943G>C
n.4351G>C
n.2166G>C
c.1794G>C (p.Gln598His)
c.25434G>C (p.Gln8478His)
c.25422G>C (p.Gln8474His)
c.25413G>C (p.Gln8471His)
c.25383G>C (p.Gln8461His)
c.25419G>C (p.Gln8473His)
c.25365G>C (p.Gln8455His)
c.25362G>C (p.Gln8454His)
c.25350G>C (p.Gln8450His)
c.25293G>C (p.Gln8431His)
c.25281G>C (p.Gln8427His)
c.25278G>C (p.Gln8426His)
c.25275G>C (p.Gln8425His)
c.25431G>C (p.Gln8477His)
c.25269G>C (p.Gln8423His)
c.23709G>C (p.Gln7903His)
c.23202G>C (p.Gln7734His)
c.18669G>C (p.Gln6223His)
c.1935G>C (p.Gln645His)
c.25407G>C (p.Gln8469His)
c.25356G>C (p.Gln8452His)
c.25209G>C (p.Gln8403His)
6g.152140079C>TCA452969915SYNE1c.1863G>A (p.Gln621=)
c.25329G>A (p.Gln8443=)
c.25185G>A (p.Gln8395=)
c.731G>A
c.1064G>A
c.973G>A
c.1101G>A (p.Gln367=)
c.24114G>A (p.Gln8038=)
n.2077G>A
c.4164G>A (p.Gln1388=)
n.9021G>A
c.3267G>A (p.Gln1089=)
n.8913G>A
n.1943G>A
n.4351G>A
n.2166G>A
c.1794G>A (p.Gln598=)
c.25434G>A (p.Gln8478=)
c.25422G>A (p.Gln8474=)
c.25413G>A (p.Gln8471=)
c.25383G>A (p.Gln8461=)
c.25419G>A (p.Gln8473=)
c.25365G>A (p.Gln8455=)
c.25362G>A (p.Gln8454=)
c.25350G>A (p.Gln8450=)
c.25293G>A (p.Gln8431=)
c.25281G>A (p.Gln8427=)
c.25278G>A (p.Gln8426=)
c.25275G>A (p.Gln8425=)
c.25431G>A (p.Gln8477=)
c.25269G>A (p.Gln8423=)
c.23709G>A (p.Gln7903=)
c.23202G>A (p.Gln7734=)
c.18669G>A (p.Gln6223=)
c.1935G>A (p.Gln645=)
c.25407G>A (p.Gln8469=)
c.25356G>A (p.Gln8452=)
c.25209G>A (p.Gln8403=)
 dbSNP gnomAD v4
6g.152140080T>ACA366080530SYNE1c.1862A>T (p.Gln621Leu)
c.25328A>T (p.Gln8443Leu)
c.25184A>T (p.Gln8395Leu)
c.730A>T
c.1063A>T
c.972A>T
c.1100A>T (p.Gln367Leu)
c.24113A>T (p.Gln8038Leu)
n.2076A>T
c.4163A>T (p.Gln1388Leu)
n.9020A>T
c.3266A>T (p.Gln1089Leu)
n.8912A>T
n.1942A>T
n.4350A>T
n.2165A>T
c.1793A>T (p.Gln598Leu)
c.25433A>T (p.Gln8478Leu)
c.25421A>T (p.Gln8474Leu)
c.25412A>T (p.Gln8471Leu)
c.25382A>T (p.Gln8461Leu)
c.25418A>T (p.Gln8473Leu)
c.25364A>T (p.Gln8455Leu)
c.25361A>T (p.Gln8454Leu)
c.25349A>T (p.Gln8450Leu)
c.25292A>T (p.Gln8431Leu)
c.25280A>T (p.Gln8427Leu)
c.25277A>T (p.Gln8426Leu)
c.25274A>T (p.Gln8425Leu)
c.25430A>T (p.Gln8477Leu)
c.25268A>T (p.Gln8423Leu)
c.23708A>T (p.Gln7903Leu)
c.23201A>T (p.Gln7734Leu)
c.18668A>T (p.Gln6223Leu)
c.1934A>T (p.Gln645Leu)
c.25406A>T (p.Gln8469Leu)
c.25355A>T (p.Gln8452Leu)
c.25208A>T (p.Gln8403Leu)
6g.152140080T>CCA366080533SYNE1c.1862A>G (p.Gln621Arg)
c.25328A>G (p.Gln8443Arg)
c.25184A>G (p.Gln8395Arg)
c.730A>G
c.1063A>G
c.972A>G
c.1100A>G (p.Gln367Arg)
c.24113A>G (p.Gln8038Arg)
n.2076A>G
c.4163A>G (p.Gln1388Arg)
n.9020A>G
c.3266A>G (p.Gln1089Arg)
n.8912A>G
n.1942A>G
n.4350A>G
n.2165A>G
c.1793A>G (p.Gln598Arg)
c.25433A>G (p.Gln8478Arg)
c.25421A>G (p.Gln8474Arg)
c.25412A>G (p.Gln8471Arg)
c.25382A>G (p.Gln8461Arg)
c.25418A>G (p.Gln8473Arg)
c.25364A>G (p.Gln8455Arg)
c.25361A>G (p.Gln8454Arg)
c.25349A>G (p.Gln8450Arg)
c.25292A>G (p.Gln8431Arg)
c.25280A>G (p.Gln8427Arg)
c.25277A>G (p.Gln8426Arg)
c.25274A>G (p.Gln8425Arg)
c.25430A>G (p.Gln8477Arg)
c.25268A>G (p.Gln8423Arg)
c.23708A>G (p.Gln7903Arg)
c.23201A>G (p.Gln7734Arg)
c.18668A>G (p.Gln6223Arg)
c.1934A>G (p.Gln645Arg)
c.25406A>G (p.Gln8469Arg)
c.25355A>G (p.Gln8452Arg)
c.25208A>G (p.Gln8403Arg)
6g.152140080T>GCA366080536SYNE1c.1862A>C (p.Gln621Pro)
c.25328A>C (p.Gln8443Pro)
c.25184A>C (p.Gln8395Pro)
c.730A>C
c.1063A>C
c.972A>C
c.1100A>C (p.Gln367Pro)
c.24113A>C (p.Gln8038Pro)
n.2076A>C
c.4163A>C (p.Gln1388Pro)
n.9020A>C
c.3266A>C (p.Gln1089Pro)
n.8912A>C
n.1942A>C
n.4350A>C
n.2165A>C
c.1793A>C (p.Gln598Pro)
c.25433A>C (p.Gln8478Pro)
c.25421A>C (p.Gln8474Pro)
c.25412A>C (p.Gln8471Pro)
c.25382A>C (p.Gln8461Pro)
c.25418A>C (p.Gln8473Pro)
c.25364A>C (p.Gln8455Pro)
c.25361A>C (p.Gln8454Pro)
c.25349A>C (p.Gln8450Pro)
c.25292A>C (p.Gln8431Pro)
c.25280A>C (p.Gln8427Pro)
c.25277A>C (p.Gln8426Pro)
c.25274A>C (p.Gln8425Pro)
c.25430A>C (p.Gln8477Pro)
c.25268A>C (p.Gln8423Pro)
c.23708A>C (p.Gln7903Pro)
c.23201A>C (p.Gln7734Pro)
c.18668A>C (p.Gln6223Pro)
c.1934A>C (p.Gln645Pro)
c.25406A>C (p.Gln8469Pro)
c.25355A>C (p.Gln8452Pro)
c.25208A>C (p.Gln8403Pro)
6g.152140081G>ACA366080539SYNE1c.1861C>T (p.Gln621Ter)
c.25327C>T (p.Gln8443Ter)
c.25183C>T (p.Gln8395Ter)
c.729C>T
c.1062C>T
c.971C>T
c.1099C>T (p.Gln367Ter)
c.24112C>T (p.Gln8038Ter)
n.2075C>T
c.4162C>T (p.Gln1388Ter)
n.9019C>T
c.3265C>T (p.Gln1089Ter)
n.8911C>T
n.1941C>T
n.4349C>T
n.2164C>T
c.1792C>T (p.Gln598Ter)
c.25432C>T (p.Gln8478Ter)
c.25420C>T (p.Gln8474Ter)
c.25411C>T (p.Gln8471Ter)
c.25381C>T (p.Gln8461Ter)
c.25417C>T (p.Gln8473Ter)
c.25363C>T (p.Gln8455Ter)
c.25360C>T (p.Gln8454Ter)
c.25348C>T (p.Gln8450Ter)
c.25291C>T (p.Gln8431Ter)
c.25279C>T (p.Gln8427Ter)
c.25276C>T (p.Gln8426Ter)
c.25273C>T (p.Gln8425Ter)
c.25429C>T (p.Gln8477Ter)
c.25267C>T (p.Gln8423Ter)
c.23707C>T (p.Gln7903Ter)
c.23200C>T (p.Gln7734Ter)
c.18667C>T (p.Gln6223Ter)
c.1933C>T (p.Gln645Ter)
c.25405C>T (p.Gln8469Ter)
c.25354C>T (p.Gln8452Ter)
c.25207C>T (p.Gln8403Ter)
6g.152140081G>CCA366080540SYNE1c.1861C>G (p.Gln621Glu)
c.25327C>G (p.Gln8443Glu)
c.25183C>G (p.Gln8395Glu)
c.729C>G
c.1062C>G
c.971C>G
c.1099C>G (p.Gln367Glu)
c.24112C>G (p.Gln8038Glu)
n.2075C>G
c.4162C>G (p.Gln1388Glu)
n.9019C>G
c.3265C>G (p.Gln1089Glu)
n.8911C>G
n.1941C>G
n.4349C>G
n.2164C>G
c.1792C>G (p.Gln598Glu)
c.25432C>G (p.Gln8478Glu)
c.25420C>G (p.Gln8474Glu)
c.25411C>G (p.Gln8471Glu)
c.25381C>G (p.Gln8461Glu)
c.25417C>G (p.Gln8473Glu)
c.25363C>G (p.Gln8455Glu)
c.25360C>G (p.Gln8454Glu)
c.25348C>G (p.Gln8450Glu)
c.25291C>G (p.Gln8431Glu)
c.25279C>G (p.Gln8427Glu)
c.25276C>G (p.Gln8426Glu)
c.25273C>G (p.Gln8425Glu)
c.25429C>G (p.Gln8477Glu)
c.25267C>G (p.Gln8423Glu)
c.23707C>G (p.Gln7903Glu)
c.23200C>G (p.Gln7734Glu)
c.18667C>G (p.Gln6223Glu)
c.1933C>G (p.Gln645Glu)
c.25405C>G (p.Gln8469Glu)
c.25354C>G (p.Gln8452Glu)
c.25207C>G (p.Gln8403Glu)
6g.152140081G>TCA366080549SYNE1c.1861C>A (p.Gln621Lys)
c.25327C>A (p.Gln8443Lys)
c.25183C>A (p.Gln8395Lys)
c.729C>A
c.1062C>A
c.971C>A
c.1099C>A (p.Gln367Lys)
c.24112C>A (p.Gln8038Lys)
n.2075C>A
c.4162C>A (p.Gln1388Lys)
n.9019C>A
c.3265C>A (p.Gln1089Lys)
n.8911C>A
n.1941C>A
n.4349C>A
n.2164C>A
c.1792C>A (p.Gln598Lys)
c.25432C>A (p.Gln8478Lys)
c.25420C>A (p.Gln8474Lys)
c.25411C>A (p.Gln8471Lys)
c.25381C>A (p.Gln8461Lys)
c.25417C>A (p.Gln8473Lys)
c.25363C>A (p.Gln8455Lys)
c.25360C>A (p.Gln8454Lys)
c.25348C>A (p.Gln8450Lys)
c.25291C>A (p.Gln8431Lys)
c.25279C>A (p.Gln8427Lys)
c.25276C>A (p.Gln8426Lys)
c.25273C>A (p.Gln8425Lys)
c.25429C>A (p.Gln8477Lys)
c.25267C>A (p.Gln8423Lys)
c.23707C>A (p.Gln7903Lys)
c.23200C>A (p.Gln7734Lys)
c.18667C>A (p.Gln6223Lys)
c.1933C>A (p.Gln645Lys)
c.25405C>A (p.Gln8469Lys)
c.25354C>A (p.Gln8452Lys)
c.25207C>A (p.Gln8403Lys)
6g.152140082C>ACA366080553SYNE1c.1860G>T (p.Trp620Cys)
c.25326G>T (p.Trp8442Cys)
c.25182G>T (p.Trp8394Cys)
c.728G>T
c.1061G>T
c.970G>T
c.1098G>T (p.Trp366Cys)
c.24111G>T (p.Trp8037Cys)
n.2074G>T
c.4161G>T (p.Trp1387Cys)
n.9018G>T
c.3264G>T (p.Trp1088Cys)
n.8910G>T
n.1940G>T
n.4348G>T
n.2163G>T
c.1791G>T (p.Trp597Cys)
c.25431G>T (p.Trp8477Cys)
c.25419G>T (p.Trp8473Cys)
c.25410G>T (p.Trp8470Cys)
c.25380G>T (p.Trp8460Cys)
c.25416G>T (p.Trp8472Cys)
c.25362G>T (p.Trp8454Cys)
c.25359G>T (p.Trp8453Cys)
c.25347G>T (p.Trp8449Cys)
c.25290G>T (p.Trp8430Cys)
c.25278G>T (p.Trp8426Cys)
c.25275G>T (p.Trp8425Cys)
c.25272G>T (p.Trp8424Cys)
c.25428G>T (p.Trp8476Cys)
c.25266G>T (p.Trp8422Cys)
c.23706G>T (p.Trp7902Cys)
c.23199G>T (p.Trp7733Cys)
c.18666G>T (p.Trp6222Cys)
c.1932G>T (p.Trp644Cys)
c.25404G>T (p.Trp8468Cys)
c.25353G>T (p.Trp8451Cys)
c.25206G>T (p.Trp8402Cys)
6g.152140082C=CA1673206347SYNE1c.1860G= (p.Trp620=)
c.25326G= (p.Trp8442=)
c.25182G= (p.Trp8394=)
c.728G=
c.1061G=
c.970G=
c.1098G= (p.Trp366=)
c.24111G= (p.Trp8037=)
n.2074G=
c.4161G= (p.Trp1387=)
n.9018G=
c.3264G= (p.Trp1088=)
n.8910G=
n.1940G=
n.4348G=
n.2163G=
c.1791G= (p.Trp597=)
c.25431G= (p.Trp8477=)
c.25419G= (p.Trp8473=)
c.25410G= (p.Trp8470=)
c.25380G= (p.Trp8460=)
c.25416G= (p.Trp8472=)
c.25362G= (p.Trp8454=)
c.25359G= (p.Trp8453=)
c.25347G= (p.Trp8449=)
c.25290G= (p.Trp8430=)
c.25278G= (p.Trp8426=)
c.25275G= (p.Trp8425=)
c.25272G= (p.Trp8424=)
c.25428G= (p.Trp8476=)
c.25266G= (p.Trp8422=)
c.23706G= (p.Trp7902=)
c.23199G= (p.Trp7733=)
c.18666G= (p.Trp6222=)
c.1932G= (p.Trp644=)
c.25404G= (p.Trp8468=)
c.25353G= (p.Trp8451=)
c.25206G= (p.Trp8402=)
6g.152140082C>GCA366080556SYNE1c.1860G>C (p.Trp620Cys)
c.25326G>C (p.Trp8442Cys)
c.25182G>C (p.Trp8394Cys)
c.728G>C
c.1061G>C
c.970G>C
c.1098G>C (p.Trp366Cys)
c.24111G>C (p.Trp8037Cys)
n.2074G>C
c.4161G>C (p.Trp1387Cys)
n.9018G>C
c.3264G>C (p.Trp1088Cys)
n.8910G>C
n.1940G>C
n.4348G>C
n.2163G>C
c.1791G>C (p.Trp597Cys)
c.25431G>C (p.Trp8477Cys)
c.25419G>C (p.Trp8473Cys)
c.25410G>C (p.Trp8470Cys)
c.25380G>C (p.Trp8460Cys)
c.25416G>C (p.Trp8472Cys)
c.25362G>C (p.Trp8454Cys)
c.25359G>C (p.Trp8453Cys)
c.25347G>C (p.Trp8449Cys)
c.25290G>C (p.Trp8430Cys)
c.25278G>C (p.Trp8426Cys)
c.25275G>C (p.Trp8425Cys)
c.25272G>C (p.Trp8424Cys)
c.25428G>C (p.Trp8476Cys)
c.25266G>C (p.Trp8422Cys)
c.23706G>C (p.Trp7902Cys)
c.23199G>C (p.Trp7733Cys)
c.18666G>C (p.Trp6222Cys)
c.1932G>C (p.Trp644Cys)
c.25404G>C (p.Trp8468Cys)
c.25353G>C (p.Trp8451Cys)
c.25206G>C (p.Trp8402Cys)
6g.152140082C>TCA4052866SYNE1c.1860G>A (p.Trp620Ter)
c.25326G>A (p.Trp8442Ter)
c.25182G>A (p.Trp8394Ter)
c.728G>A
c.1061G>A
c.970G>A
c.1098G>A (p.Trp366Ter)
c.24111G>A (p.Trp8037Ter)
n.2074G>A
c.4161G>A (p.Trp1387Ter)
n.9018G>A
c.3264G>A (p.Trp1088Ter)
n.8910G>A
n.1940G>A
n.4348G>A
n.2163G>A
c.1791G>A (p.Trp597Ter)
c.25431G>A (p.Trp8477Ter)
c.25419G>A (p.Trp8473Ter)
c.25410G>A (p.Trp8470Ter)
c.25380G>A (p.Trp8460Ter)
c.25416G>A (p.Trp8472Ter)
c.25362G>A (p.Trp8454Ter)
c.25359G>A (p.Trp8453Ter)
c.25347G>A (p.Trp8449Ter)
c.25290G>A (p.Trp8430Ter)
c.25278G>A (p.Trp8426Ter)
c.25275G>A (p.Trp8425Ter)
c.25272G>A (p.Trp8424Ter)
c.25428G>A (p.Trp8476Ter)
c.25266G>A (p.Trp8422Ter)
c.23706G>A (p.Trp7902Ter)
c.23199G>A (p.Trp7733Ter)
c.18666G>A (p.Trp6222Ter)
c.1932G>A (p.Trp644Ter)
c.25404G>A (p.Trp8468Ter)
c.25353G>A (p.Trp8451Ter)
c.25206G>A (p.Trp8402Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140083C>ACA366080561SYNE1c.1859G>T (p.Trp620Leu)
c.25325G>T (p.Trp8442Leu)
c.25181G>T (p.Trp8394Leu)
c.727G>T
c.1060G>T
c.969G>T
c.1097G>T (p.Trp366Leu)
c.24110G>T (p.Trp8037Leu)
n.2073G>T
c.4160G>T (p.Trp1387Leu)
n.9017G>T
c.3263G>T (p.Trp1088Leu)
n.8909G>T
n.1939G>T
n.4347G>T
n.2162G>T
c.1790G>T (p.Trp597Leu)
c.25430G>T (p.Trp8477Leu)
c.25418G>T (p.Trp8473Leu)
c.25409G>T (p.Trp8470Leu)
c.25379G>T (p.Trp8460Leu)
c.25415G>T (p.Trp8472Leu)
c.25361G>T (p.Trp8454Leu)
c.25358G>T (p.Trp8453Leu)
c.25346G>T (p.Trp8449Leu)
c.25289G>T (p.Trp8430Leu)
c.25277G>T (p.Trp8426Leu)
c.25274G>T (p.Trp8425Leu)
c.25271G>T (p.Trp8424Leu)
c.25427G>T (p.Trp8476Leu)
c.25265G>T (p.Trp8422Leu)
c.23705G>T (p.Trp7902Leu)
c.23198G>T (p.Trp7733Leu)
c.18665G>T (p.Trp6222Leu)
c.1931G>T (p.Trp644Leu)
c.25403G>T (p.Trp8468Leu)
c.25352G>T (p.Trp8451Leu)
c.25205G>T (p.Trp8402Leu)
6g.152140083C>GCA366080564SYNE1c.1859G>C (p.Trp620Ser)
c.25325G>C (p.Trp8442Ser)
c.25181G>C (p.Trp8394Ser)
c.727G>C
c.1060G>C
c.969G>C
c.1097G>C (p.Trp366Ser)
c.24110G>C (p.Trp8037Ser)
n.2073G>C
c.4160G>C (p.Trp1387Ser)
n.9017G>C
c.3263G>C (p.Trp1088Ser)
n.8909G>C
n.1939G>C
n.4347G>C
n.2162G>C
c.1790G>C (p.Trp597Ser)
c.25430G>C (p.Trp8477Ser)
c.25418G>C (p.Trp8473Ser)
c.25409G>C (p.Trp8470Ser)
c.25379G>C (p.Trp8460Ser)
c.25415G>C (p.Trp8472Ser)
c.25361G>C (p.Trp8454Ser)
c.25358G>C (p.Trp8453Ser)
c.25346G>C (p.Trp8449Ser)
c.25289G>C (p.Trp8430Ser)
c.25277G>C (p.Trp8426Ser)
c.25274G>C (p.Trp8425Ser)
c.25271G>C (p.Trp8424Ser)
c.25427G>C (p.Trp8476Ser)
c.25265G>C (p.Trp8422Ser)
c.23705G>C (p.Trp7902Ser)
c.23198G>C (p.Trp7733Ser)
c.18665G>C (p.Trp6222Ser)
c.1931G>C (p.Trp644Ser)
c.25403G>C (p.Trp8468Ser)
c.25352G>C (p.Trp8451Ser)
c.25205G>C (p.Trp8402Ser)
6g.152140083C>TCA366080566SYNE1c.1859G>A (p.Trp620Ter)
c.25325G>A (p.Trp8442Ter)
c.25181G>A (p.Trp8394Ter)
c.727G>A
c.1060G>A
c.969G>A
c.1097G>A (p.Trp366Ter)
c.24110G>A (p.Trp8037Ter)
n.2073G>A
c.4160G>A (p.Trp1387Ter)
n.9017G>A
c.3263G>A (p.Trp1088Ter)
n.8909G>A
n.1939G>A
n.4347G>A
n.2162G>A
c.1790G>A (p.Trp597Ter)
c.25430G>A (p.Trp8477Ter)
c.25418G>A (p.Trp8473Ter)
c.25409G>A (p.Trp8470Ter)
c.25379G>A (p.Trp8460Ter)
c.25415G>A (p.Trp8472Ter)
c.25361G>A (p.Trp8454Ter)
c.25358G>A (p.Trp8453Ter)
c.25346G>A (p.Trp8449Ter)
c.25289G>A (p.Trp8430Ter)
c.25277G>A (p.Trp8426Ter)
c.25274G>A (p.Trp8425Ter)
c.25271G>A (p.Trp8424Ter)
c.25427G>A (p.Trp8476Ter)
c.25265G>A (p.Trp8422Ter)
c.23705G>A (p.Trp7902Ter)
c.23198G>A (p.Trp7733Ter)
c.18665G>A (p.Trp6222Ter)
c.1931G>A (p.Trp644Ter)
c.25403G>A (p.Trp8468Ter)
c.25352G>A (p.Trp8451Ter)
c.25205G>A (p.Trp8402Ter)
6g.152140084A=CA1673206351SYNE1c.1858T= (p.Trp620=)
c.25324T= (p.Trp8442=)
c.25180T= (p.Trp8394=)
c.726T=
c.1059T=
c.968T=
c.1096T= (p.Trp366=)
c.24109T= (p.Trp8037=)
n.2072T=
c.4159T= (p.Trp1387=)
n.9016T=
c.3262T= (p.Trp1088=)
n.8908T=
n.1938T=
n.4346T=
n.2161T=
c.1789T= (p.Trp597=)
c.25429T= (p.Trp8477=)
c.25417T= (p.Trp8473=)
c.25408T= (p.Trp8470=)
c.25378T= (p.Trp8460=)
c.25414T= (p.Trp8472=)
c.25360T= (p.Trp8454=)
c.25357T= (p.Trp8453=)
c.25345T= (p.Trp8449=)
c.25288T= (p.Trp8430=)
c.25276T= (p.Trp8426=)
c.25273T= (p.Trp8425=)
c.25270T= (p.Trp8424=)
c.25426T= (p.Trp8476=)
c.25264T= (p.Trp8422=)
c.23704T= (p.Trp7902=)
c.23197T= (p.Trp7733=)
c.18664T= (p.Trp6222=)
c.1930T= (p.Trp644=)
c.25402T= (p.Trp8468=)
c.25351T= (p.Trp8451=)
c.25204T= (p.Trp8402=)
6g.152140084A>CCA366080572SYNE1c.1858T>G (p.Trp620Gly)
c.25324T>G (p.Trp8442Gly)
c.25180T>G (p.Trp8394Gly)
c.726T>G
c.1059T>G
c.968T>G
c.1096T>G (p.Trp366Gly)
c.24109T>G (p.Trp8037Gly)
n.2072T>G
c.4159T>G (p.Trp1387Gly)
n.9016T>G
c.3262T>G (p.Trp1088Gly)
n.8908T>G
n.1938T>G
n.4346T>G
n.2161T>G
c.1789T>G (p.Trp597Gly)
c.25429T>G (p.Trp8477Gly)
c.25417T>G (p.Trp8473Gly)
c.25408T>G (p.Trp8470Gly)
c.25378T>G (p.Trp8460Gly)
c.25414T>G (p.Trp8472Gly)
c.25360T>G (p.Trp8454Gly)
c.25357T>G (p.Trp8453Gly)
c.25345T>G (p.Trp8449Gly)
c.25288T>G (p.Trp8430Gly)
c.25276T>G (p.Trp8426Gly)
c.25273T>G (p.Trp8425Gly)
c.25270T>G (p.Trp8424Gly)
c.25426T>G (p.Trp8476Gly)
c.25264T>G (p.Trp8422Gly)
c.23704T>G (p.Trp7902Gly)
c.23197T>G (p.Trp7733Gly)
c.18664T>G (p.Trp6222Gly)
c.1930T>G (p.Trp644Gly)
c.25402T>G (p.Trp8468Gly)
c.25351T>G (p.Trp8451Gly)
c.25204T>G (p.Trp8402Gly)
6g.152140084A>GCA366080576SYNE1c.1858T>C (p.Trp620Arg)
c.25324T>C (p.Trp8442Arg)
c.25180T>C (p.Trp8394Arg)
c.726T>C
c.1059T>C
c.968T>C
c.1096T>C (p.Trp366Arg)
c.24109T>C (p.Trp8037Arg)
n.2072T>C
c.4159T>C (p.Trp1387Arg)
n.9016T>C
c.3262T>C (p.Trp1088Arg)
n.8908T>C
n.1938T>C
n.4346T>C
n.2161T>C
c.1789T>C (p.Trp597Arg)
c.25429T>C (p.Trp8477Arg)
c.25417T>C (p.Trp8473Arg)
c.25408T>C (p.Trp8470Arg)
c.25378T>C (p.Trp8460Arg)
c.25414T>C (p.Trp8472Arg)
c.25360T>C (p.Trp8454Arg)
c.25357T>C (p.Trp8453Arg)
c.25345T>C (p.Trp8449Arg)
c.25288T>C (p.Trp8430Arg)
c.25276T>C (p.Trp8426Arg)
c.25273T>C (p.Trp8425Arg)
c.25270T>C (p.Trp8424Arg)
c.25426T>C (p.Trp8476Arg)
c.25264T>C (p.Trp8422Arg)
c.23704T>C (p.Trp7902Arg)
c.23197T>C (p.Trp7733Arg)
c.18664T>C (p.Trp6222Arg)
c.1930T>C (p.Trp644Arg)
c.25402T>C (p.Trp8468Arg)
c.25351T>C (p.Trp8451Arg)
c.25204T>C (p.Trp8402Arg)
 dbSNP
6g.152140084A>TCA366080570SYNE1c.1858T>A (p.Trp620Arg)
c.25324T>A (p.Trp8442Arg)
c.25180T>A (p.Trp8394Arg)
c.726T>A
c.1059T>A
c.968T>A
c.1096T>A (p.Trp366Arg)
c.24109T>A (p.Trp8037Arg)
n.2072T>A
c.4159T>A (p.Trp1387Arg)
n.9016T>A
c.3262T>A (p.Trp1088Arg)
n.8908T>A
n.1938T>A
n.4346T>A
n.2161T>A
c.1789T>A (p.Trp597Arg)
c.25429T>A (p.Trp8477Arg)
c.25417T>A (p.Trp8473Arg)
c.25408T>A (p.Trp8470Arg)
c.25378T>A (p.Trp8460Arg)
c.25414T>A (p.Trp8472Arg)
c.25360T>A (p.Trp8454Arg)
c.25357T>A (p.Trp8453Arg)
c.25345T>A (p.Trp8449Arg)
c.25288T>A (p.Trp8430Arg)
c.25276T>A (p.Trp8426Arg)
c.25273T>A (p.Trp8425Arg)
c.25270T>A (p.Trp8424Arg)
c.25426T>A (p.Trp8476Arg)
c.25264T>A (p.Trp8422Arg)
c.23704T>A (p.Trp7902Arg)
c.23197T>A (p.Trp7733Arg)
c.18664T>A (p.Trp6222Arg)
c.1930T>A (p.Trp644Arg)
c.25402T>A (p.Trp8468Arg)
c.25351T>A (p.Trp8451Arg)
c.25204T>A (p.Trp8402Arg)
6g.152140085C>ACA366080580SYNE1c.1857G>T (p.Lys619Asn)
c.25323G>T (p.Lys8441Asn)
c.25179G>T (p.Lys8393Asn)
c.725G>T
c.1058G>T
c.967G>T
c.1095G>T (p.Lys365Asn)
c.24108G>T (p.Lys8036Asn)
n.2071G>T
c.4158G>T (p.Lys1386Asn)
n.9015G>T
c.3261G>T (p.Lys1087Asn)
n.8907G>T
n.1937G>T
n.4345G>T
n.2160G>T
c.1788G>T (p.Lys596Asn)
c.25428G>T (p.Lys8476Asn)
c.25416G>T (p.Lys8472Asn)
c.25407G>T (p.Lys8469Asn)
c.25377G>T (p.Lys8459Asn)
c.25413G>T (p.Lys8471Asn)
c.25359G>T (p.Lys8453Asn)
c.25356G>T (p.Lys8452Asn)
c.25344G>T (p.Lys8448Asn)
c.25287G>T (p.Lys8429Asn)
c.25275G>T (p.Lys8425Asn)
c.25272G>T (p.Lys8424Asn)
c.25269G>T (p.Lys8423Asn)
c.25425G>T (p.Lys8475Asn)
c.25263G>T (p.Lys8421Asn)
c.23703G>T (p.Lys7901Asn)
c.23196G>T (p.Lys7732Asn)
c.18663G>T (p.Lys6221Asn)
c.1929G>T (p.Lys643Asn)
c.25401G>T (p.Lys8467Asn)
c.25350G>T (p.Lys8450Asn)
c.25203G>T (p.Lys8401Asn)
6g.152140085C>GCA366080582SYNE1c.1857G>C (p.Lys619Asn)
c.25323G>C (p.Lys8441Asn)
c.25179G>C (p.Lys8393Asn)
c.725G>C
c.1058G>C
c.967G>C
c.1095G>C (p.Lys365Asn)
c.24108G>C (p.Lys8036Asn)
n.2071G>C
c.4158G>C (p.Lys1386Asn)
n.9015G>C
c.3261G>C (p.Lys1087Asn)
n.8907G>C
n.1937G>C
n.4345G>C
n.2160G>C
c.1788G>C (p.Lys596Asn)
c.25428G>C (p.Lys8476Asn)
c.25416G>C (p.Lys8472Asn)
c.25407G>C (p.Lys8469Asn)
c.25377G>C (p.Lys8459Asn)
c.25413G>C (p.Lys8471Asn)
c.25359G>C (p.Lys8453Asn)
c.25356G>C (p.Lys8452Asn)
c.25344G>C (p.Lys8448Asn)
c.25287G>C (p.Lys8429Asn)
c.25275G>C (p.Lys8425Asn)
c.25272G>C (p.Lys8424Asn)
c.25269G>C (p.Lys8423Asn)
c.25425G>C (p.Lys8475Asn)
c.25263G>C (p.Lys8421Asn)
c.23703G>C (p.Lys7901Asn)
c.23196G>C (p.Lys7732Asn)
c.18663G>C (p.Lys6221Asn)
c.1929G>C (p.Lys643Asn)
c.25401G>C (p.Lys8467Asn)
c.25350G>C (p.Lys8450Asn)
c.25203G>C (p.Lys8401Asn)
6g.152140085C>TCA452969922SYNE1c.1857G>A (p.Lys619=)
c.25323G>A (p.Lys8441=)
c.25179G>A (p.Lys8393=)
c.725G>A
c.1058G>A
c.967G>A
c.1095G>A (p.Lys365=)
c.24108G>A (p.Lys8036=)
n.2071G>A
c.4158G>A (p.Lys1386=)
n.9015G>A
c.3261G>A (p.Lys1087=)
n.8907G>A
n.1937G>A
n.4345G>A
n.2160G>A
c.1788G>A (p.Lys596=)
c.25428G>A (p.Lys8476=)
c.25416G>A (p.Lys8472=)
c.25407G>A (p.Lys8469=)
c.25377G>A (p.Lys8459=)
c.25413G>A (p.Lys8471=)
c.25359G>A (p.Lys8453=)
c.25356G>A (p.Lys8452=)
c.25344G>A (p.Lys8448=)
c.25287G>A (p.Lys8429=)
c.25275G>A (p.Lys8425=)
c.25272G>A (p.Lys8424=)
c.25269G>A (p.Lys8423=)
c.25425G>A (p.Lys8475=)
c.25263G>A (p.Lys8421=)
c.23703G>A (p.Lys7901=)
c.23196G>A (p.Lys7732=)
c.18663G>A (p.Lys6221=)
c.1929G>A (p.Lys643=)
c.25401G>A (p.Lys8467=)
c.25350G>A (p.Lys8450=)
c.25203G>A (p.Lys8401=)
6g.152140086T>ACA366080584SYNE1c.1856A>T (p.Lys619Met)
c.25322A>T (p.Lys8441Met)
c.25178A>T (p.Lys8393Met)
c.724A>T
c.1057A>T
c.966A>T
c.1094A>T (p.Lys365Met)
c.24107A>T (p.Lys8036Met)
n.2070A>T
c.4157A>T (p.Lys1386Met)
n.9014A>T
c.3260A>T (p.Lys1087Met)
n.8906A>T
n.1936A>T
n.4344A>T
n.2159A>T
c.1787A>T (p.Lys596Met)
c.25427A>T (p.Lys8476Met)
c.25415A>T (p.Lys8472Met)
c.25406A>T (p.Lys8469Met)
c.25376A>T (p.Lys8459Met)
c.25412A>T (p.Lys8471Met)
c.25358A>T (p.Lys8453Met)
c.25355A>T (p.Lys8452Met)
c.25343A>T (p.Lys8448Met)
c.25286A>T (p.Lys8429Met)
c.25274A>T (p.Lys8425Met)
c.25271A>T (p.Lys8424Met)
c.25268A>T (p.Lys8423Met)
c.25424A>T (p.Lys8475Met)
c.25262A>T (p.Lys8421Met)
c.23702A>T (p.Lys7901Met)
c.23195A>T (p.Lys7732Met)
c.18662A>T (p.Lys6221Met)
c.1928A>T (p.Lys643Met)
c.25400A>T (p.Lys8467Met)
c.25349A>T (p.Lys8450Met)
c.25202A>T (p.Lys8401Met)
6g.152140086T>CCA366080587SYNE1c.1856A>G (p.Lys619Arg)
c.25322A>G (p.Lys8441Arg)
c.25178A>G (p.Lys8393Arg)
c.724A>G
c.1057A>G
c.966A>G
c.1094A>G (p.Lys365Arg)
c.24107A>G (p.Lys8036Arg)
n.2070A>G
c.4157A>G (p.Lys1386Arg)
n.9014A>G
c.3260A>G (p.Lys1087Arg)
n.8906A>G
n.1936A>G
n.4344A>G
n.2159A>G
c.1787A>G (p.Lys596Arg)
c.25427A>G (p.Lys8476Arg)
c.25415A>G (p.Lys8472Arg)
c.25406A>G (p.Lys8469Arg)
c.25376A>G (p.Lys8459Arg)
c.25412A>G (p.Lys8471Arg)
c.25358A>G (p.Lys8453Arg)
c.25355A>G (p.Lys8452Arg)
c.25343A>G (p.Lys8448Arg)
c.25286A>G (p.Lys8429Arg)
c.25274A>G (p.Lys8425Arg)
c.25271A>G (p.Lys8424Arg)
c.25268A>G (p.Lys8423Arg)
c.25424A>G (p.Lys8475Arg)
c.25262A>G (p.Lys8421Arg)
c.23702A>G (p.Lys7901Arg)
c.23195A>G (p.Lys7732Arg)
c.18662A>G (p.Lys6221Arg)
c.1928A>G (p.Lys643Arg)
c.25400A>G (p.Lys8467Arg)
c.25349A>G (p.Lys8450Arg)
c.25202A>G (p.Lys8401Arg)
6g.152140086T>GCA366080589SYNE1c.1856A>C (p.Lys619Thr)
c.25322A>C (p.Lys8441Thr)
c.25178A>C (p.Lys8393Thr)
c.724A>C
c.1057A>C
c.966A>C
c.1094A>C (p.Lys365Thr)
c.24107A>C (p.Lys8036Thr)
n.2070A>C
c.4157A>C (p.Lys1386Thr)
n.9014A>C
c.3260A>C (p.Lys1087Thr)
n.8906A>C
n.1936A>C
n.4344A>C
n.2159A>C
c.1787A>C (p.Lys596Thr)
c.25427A>C (p.Lys8476Thr)
c.25415A>C (p.Lys8472Thr)
c.25406A>C (p.Lys8469Thr)
c.25376A>C (p.Lys8459Thr)
c.25412A>C (p.Lys8471Thr)
c.25358A>C (p.Lys8453Thr)
c.25355A>C (p.Lys8452Thr)
c.25343A>C (p.Lys8448Thr)
c.25286A>C (p.Lys8429Thr)
c.25274A>C (p.Lys8425Thr)
c.25271A>C (p.Lys8424Thr)
c.25268A>C (p.Lys8423Thr)
c.25424A>C (p.Lys8475Thr)
c.25262A>C (p.Lys8421Thr)
c.23702A>C (p.Lys7901Thr)
c.23195A>C (p.Lys7732Thr)
c.18662A>C (p.Lys6221Thr)
c.1928A>C (p.Lys643Thr)
c.25400A>C (p.Lys8467Thr)
c.25349A>C (p.Lys8450Thr)
c.25202A>C (p.Lys8401Thr)
6g.152140087T>ACA366080597SYNE1c.1855A>T (p.Lys619Ter)
c.25321A>T (p.Lys8441Ter)
c.25177A>T (p.Lys8393Ter)
c.723A>T
c.1056A>T
c.965A>T
c.1093A>T (p.Lys365Ter)
c.24106A>T (p.Lys8036Ter)
n.2069A>T
c.4156A>T (p.Lys1386Ter)
n.9013A>T
c.3259A>T (p.Lys1087Ter)
n.8905A>T
n.1935A>T
n.4343A>T
n.2158A>T
c.1786A>T (p.Lys596Ter)
c.25426A>T (p.Lys8476Ter)
c.25414A>T (p.Lys8472Ter)
c.25405A>T (p.Lys8469Ter)
c.25375A>T (p.Lys8459Ter)
c.25411A>T (p.Lys8471Ter)
c.25357A>T (p.Lys8453Ter)
c.25354A>T (p.Lys8452Ter)
c.25342A>T (p.Lys8448Ter)
c.25285A>T (p.Lys8429Ter)
c.25273A>T (p.Lys8425Ter)
c.25270A>T (p.Lys8424Ter)
c.25267A>T (p.Lys8423Ter)
c.25423A>T (p.Lys8475Ter)
c.25261A>T (p.Lys8421Ter)
c.23701A>T (p.Lys7901Ter)
c.23194A>T (p.Lys7732Ter)
c.18661A>T (p.Lys6221Ter)
c.1927A>T (p.Lys643Ter)
c.25399A>T (p.Lys8467Ter)
c.25348A>T (p.Lys8450Ter)
c.25201A>T (p.Lys8401Ter)
6g.152140087T>CCA366080592SYNE1c.1855A>G (p.Lys619Glu)
c.25321A>G (p.Lys8441Glu)
c.25177A>G (p.Lys8393Glu)
c.723A>G
c.1056A>G
c.965A>G
c.1093A>G (p.Lys365Glu)
c.24106A>G (p.Lys8036Glu)
n.2069A>G
c.4156A>G (p.Lys1386Glu)
n.9013A>G
c.3259A>G (p.Lys1087Glu)
n.8905A>G
n.1935A>G
n.4343A>G
n.2158A>G
c.1786A>G (p.Lys596Glu)
c.25426A>G (p.Lys8476Glu)
c.25414A>G (p.Lys8472Glu)
c.25405A>G (p.Lys8469Glu)
c.25375A>G (p.Lys8459Glu)
c.25411A>G (p.Lys8471Glu)
c.25357A>G (p.Lys8453Glu)
c.25354A>G (p.Lys8452Glu)
c.25342A>G (p.Lys8448Glu)
c.25285A>G (p.Lys8429Glu)
c.25273A>G (p.Lys8425Glu)
c.25270A>G (p.Lys8424Glu)
c.25267A>G (p.Lys8423Glu)
c.25423A>G (p.Lys8475Glu)
c.25261A>G (p.Lys8421Glu)
c.23701A>G (p.Lys7901Glu)
c.23194A>G (p.Lys7732Glu)
c.18661A>G (p.Lys6221Glu)
c.1927A>G (p.Lys643Glu)
c.25399A>G (p.Lys8467Glu)
c.25348A>G (p.Lys8450Glu)
c.25201A>G (p.Lys8401Glu)
6g.152140087T>GCA366080594SYNE1c.1855A>C (p.Lys619Gln)
c.25321A>C (p.Lys8441Gln)
c.25177A>C (p.Lys8393Gln)
c.723A>C
c.1056A>C
c.965A>C
c.1093A>C (p.Lys365Gln)
c.24106A>C (p.Lys8036Gln)
n.2069A>C
c.4156A>C (p.Lys1386Gln)
n.9013A>C
c.3259A>C (p.Lys1087Gln)
n.8905A>C
n.1935A>C
n.4343A>C
n.2158A>C
c.1786A>C (p.Lys596Gln)
c.25426A>C (p.Lys8476Gln)
c.25414A>C (p.Lys8472Gln)
c.25405A>C (p.Lys8469Gln)
c.25375A>C (p.Lys8459Gln)
c.25411A>C (p.Lys8471Gln)
c.25357A>C (p.Lys8453Gln)
c.25354A>C (p.Lys8452Gln)
c.25342A>C (p.Lys8448Gln)
c.25285A>C (p.Lys8429Gln)
c.25273A>C (p.Lys8425Gln)
c.25270A>C (p.Lys8424Gln)
c.25267A>C (p.Lys8423Gln)
c.25423A>C (p.Lys8475Gln)
c.25261A>C (p.Lys8421Gln)
c.23701A>C (p.Lys7901Gln)
c.23194A>C (p.Lys7732Gln)
c.18661A>C (p.Lys6221Gln)
c.1927A>C (p.Lys643Gln)
c.25399A>C (p.Lys8467Gln)
c.25348A>C (p.Lys8450Gln)
c.25201A>C (p.Lys8401Gln)
6g.152140088C>ACA366080600SYNE1c.1854G>T (p.Gln618His)
c.25320G>T (p.Gln8440His)
c.25176G>T (p.Gln8392His)
c.722G>T
c.1055G>T
c.964G>T
c.1092G>T (p.Gln364His)
c.24105G>T (p.Gln8035His)
n.2068G>T
c.4155G>T (p.Gln1385His)
n.9012G>T
c.3258G>T (p.Gln1086His)
n.8904G>T
n.1934G>T
n.4342G>T
n.2157G>T
c.1785G>T (p.Gln595His)
c.25425G>T (p.Gln8475His)
c.25413G>T (p.Gln8471His)
c.25404G>T (p.Gln8468His)
c.25374G>T (p.Gln8458His)
c.25410G>T (p.Gln8470His)
c.25356G>T (p.Gln8452His)
c.25353G>T (p.Gln8451His)
c.25341G>T (p.Gln8447His)
c.25284G>T (p.Gln8428His)
c.25272G>T (p.Gln8424His)
c.25269G>T (p.Gln8423His)
c.25266G>T (p.Gln8422His)
c.25422G>T (p.Gln8474His)
c.25260G>T (p.Gln8420His)
c.23700G>T (p.Gln7900His)
c.23193G>T (p.Gln7731His)
c.18660G>T (p.Gln6220His)
c.1926G>T (p.Gln642His)
c.25398G>T (p.Gln8466His)
c.25347G>T (p.Gln8449His)
c.25200G>T (p.Gln8400His)
 gnomAD v4
6g.152140088C=CA1673206355SYNE1c.1854G= (p.Gln618=)
c.25320G= (p.Gln8440=)
c.25176G= (p.Gln8392=)
c.722G=
c.1055G=
c.964G=
c.1092G= (p.Gln364=)
c.24105G= (p.Gln8035=)
n.2068G=
c.4155G= (p.Gln1385=)
n.9012G=
c.3258G= (p.Gln1086=)
n.8904G=
n.1934G=
n.4342G=
n.2157G=
c.1785G= (p.Gln595=)
c.25425G= (p.Gln8475=)
c.25413G= (p.Gln8471=)
c.25404G= (p.Gln8468=)
c.25374G= (p.Gln8458=)
c.25410G= (p.Gln8470=)
c.25356G= (p.Gln8452=)
c.25353G= (p.Gln8451=)
c.25341G= (p.Gln8447=)
c.25284G= (p.Gln8428=)
c.25272G= (p.Gln8424=)
c.25269G= (p.Gln8423=)
c.25266G= (p.Gln8422=)
c.25422G= (p.Gln8474=)
c.25260G= (p.Gln8420=)
c.23700G= (p.Gln7900=)
c.23193G= (p.Gln7731=)
c.18660G= (p.Gln6220=)
c.1926G= (p.Gln642=)
c.25398G= (p.Gln8466=)
c.25347G= (p.Gln8449=)
c.25200G= (p.Gln8400=)
6g.152140088C>GCA4052867SYNE1c.1854G>C (p.Gln618His)
c.25320G>C (p.Gln8440His)
c.25176G>C (p.Gln8392His)
c.722G>C
c.1055G>C
c.964G>C
c.1092G>C (p.Gln364His)
c.24105G>C (p.Gln8035His)
n.2068G>C
c.4155G>C (p.Gln1385His)
n.9012G>C
c.3258G>C (p.Gln1086His)
n.8904G>C
n.1934G>C
n.4342G>C
n.2157G>C
c.1785G>C (p.Gln595His)
c.25425G>C (p.Gln8475His)
c.25413G>C (p.Gln8471His)
c.25404G>C (p.Gln8468His)
c.25374G>C (p.Gln8458His)
c.25410G>C (p.Gln8470His)
c.25356G>C (p.Gln8452His)
c.25353G>C (p.Gln8451His)
c.25341G>C (p.Gln8447His)
c.25284G>C (p.Gln8428His)
c.25272G>C (p.Gln8424His)
c.25269G>C (p.Gln8423His)
c.25266G>C (p.Gln8422His)
c.25422G>C (p.Gln8474His)
c.25260G>C (p.Gln8420His)
c.23700G>C (p.Gln7900His)
c.23193G>C (p.Gln7731His)
c.18660G>C (p.Gln6220His)
c.1926G>C (p.Gln642His)
c.25398G>C (p.Gln8466His)
c.25347G>C (p.Gln8449His)
c.25200G>C (p.Gln8400His)
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.152140088C>TCA452969924SYNE1c.1854G>A (p.Gln618=)
c.25320G>A (p.Gln8440=)
c.25176G>A (p.Gln8392=)
c.722G>A
c.1055G>A
c.964G>A
c.1092G>A (p.Gln364=)
c.24105G>A (p.Gln8035=)
n.2068G>A
c.4155G>A (p.Gln1385=)
n.9012G>A
c.3258G>A (p.Gln1086=)
n.8904G>A
n.1934G>A
n.4342G>A
n.2157G>A
c.1785G>A (p.Gln595=)
c.25425G>A (p.Gln8475=)
c.25413G>A (p.Gln8471=)
c.25404G>A (p.Gln8468=)
c.25374G>A (p.Gln8458=)
c.25410G>A (p.Gln8470=)
c.25356G>A (p.Gln8452=)
c.25353G>A (p.Gln8451=)
c.25341G>A (p.Gln8447=)
c.25284G>A (p.Gln8428=)
c.25272G>A (p.Gln8424=)
c.25269G>A (p.Gln8423=)
c.25266G>A (p.Gln8422=)
c.25422G>A (p.Gln8474=)
c.25260G>A (p.Gln8420=)
c.23700G>A (p.Gln7900=)
c.23193G>A (p.Gln7731=)
c.18660G>A (p.Gln6220=)
c.1926G>A (p.Gln642=)
c.25398G>A (p.Gln8466=)
c.25347G>A (p.Gln8449=)
c.25200G>A (p.Gln8400=)
 gnomAD v4
6g.152140089T>ACA366080607SYNE1c.1853A>T (p.Gln618Leu)
c.25319A>T (p.Gln8440Leu)
c.25175A>T (p.Gln8392Leu)
c.721A>T
c.1054A>T
c.963A>T
c.1091A>T (p.Gln364Leu)
c.24104A>T (p.Gln8035Leu)
n.2067A>T
c.4154A>T (p.Gln1385Leu)
n.9011A>T
c.3257A>T (p.Gln1086Leu)
n.8903A>T
n.1933A>T
n.4341A>T
n.2156A>T
c.1784A>T (p.Gln595Leu)
c.25424A>T (p.Gln8475Leu)
c.25412A>T (p.Gln8471Leu)
c.25403A>T (p.Gln8468Leu)
c.25373A>T (p.Gln8458Leu)
c.25409A>T (p.Gln8470Leu)
c.25355A>T (p.Gln8452Leu)
c.25352A>T (p.Gln8451Leu)
c.25340A>T (p.Gln8447Leu)
c.25283A>T (p.Gln8428Leu)
c.25271A>T (p.Gln8424Leu)
c.25268A>T (p.Gln8423Leu)
c.25265A>T (p.Gln8422Leu)
c.25421A>T (p.Gln8474Leu)
c.25259A>T (p.Gln8420Leu)
c.23699A>T (p.Gln7900Leu)
c.23192A>T (p.Gln7731Leu)
c.18659A>T (p.Gln6220Leu)
c.1925A>T (p.Gln642Leu)
c.25397A>T (p.Gln8466Leu)
c.25346A>T (p.Gln8449Leu)
c.25199A>T (p.Gln8400Leu)
6g.152140089T>CCA366080609SYNE1c.1853A>G (p.Gln618Arg)
c.25319A>G (p.Gln8440Arg)
c.25175A>G (p.Gln8392Arg)
c.721A>G
c.1054A>G
c.963A>G
c.1091A>G (p.Gln364Arg)
c.24104A>G (p.Gln8035Arg)
n.2067A>G
c.4154A>G (p.Gln1385Arg)
n.9011A>G
c.3257A>G (p.Gln1086Arg)
n.8903A>G
n.1933A>G
n.4341A>G
n.2156A>G
c.1784A>G (p.Gln595Arg)
c.25424A>G (p.Gln8475Arg)
c.25412A>G (p.Gln8471Arg)
c.25403A>G (p.Gln8468Arg)
c.25373A>G (p.Gln8458Arg)
c.25409A>G (p.Gln8470Arg)
c.25355A>G (p.Gln8452Arg)
c.25352A>G (p.Gln8451Arg)
c.25340A>G (p.Gln8447Arg)
c.25283A>G (p.Gln8428Arg)
c.25271A>G (p.Gln8424Arg)
c.25268A>G (p.Gln8423Arg)
c.25265A>G (p.Gln8422Arg)
c.25421A>G (p.Gln8474Arg)
c.25259A>G (p.Gln8420Arg)
c.23699A>G (p.Gln7900Arg)
c.23192A>G (p.Gln7731Arg)
c.18659A>G (p.Gln6220Arg)
c.1925A>G (p.Gln642Arg)
c.25397A>G (p.Gln8466Arg)
c.25346A>G (p.Gln8449Arg)
c.25199A>G (p.Gln8400Arg)
6g.152140089T>GCA366080612SYNE1c.1853A>C (p.Gln618Pro)
c.25319A>C (p.Gln8440Pro)
c.25175A>C (p.Gln8392Pro)
c.721A>C
c.1054A>C
c.963A>C
c.1091A>C (p.Gln364Pro)
c.24104A>C (p.Gln8035Pro)
n.2067A>C
c.4154A>C (p.Gln1385Pro)
n.9011A>C
c.3257A>C (p.Gln1086Pro)
n.8903A>C
n.1933A>C
n.4341A>C
n.2156A>C
c.1784A>C (p.Gln595Pro)
c.25424A>C (p.Gln8475Pro)
c.25412A>C (p.Gln8471Pro)
c.25403A>C (p.Gln8468Pro)
c.25373A>C (p.Gln8458Pro)
c.25409A>C (p.Gln8470Pro)
c.25355A>C (p.Gln8452Pro)
c.25352A>C (p.Gln8451Pro)
c.25340A>C (p.Gln8447Pro)
c.25283A>C (p.Gln8428Pro)
c.25271A>C (p.Gln8424Pro)
c.25268A>C (p.Gln8423Pro)
c.25265A>C (p.Gln8422Pro)
c.25421A>C (p.Gln8474Pro)
c.25259A>C (p.Gln8420Pro)
c.23699A>C (p.Gln7900Pro)
c.23192A>C (p.Gln7731Pro)
c.18659A>C (p.Gln6220Pro)
c.1925A>C (p.Gln642Pro)
c.25397A>C (p.Gln8466Pro)
c.25346A>C (p.Gln8449Pro)
c.25199A>C (p.Gln8400Pro)
6g.152140090G>ACA366080618SYNE1c.1852C>T (p.Gln618Ter)
c.25318C>T (p.Gln8440Ter)
c.25174C>T (p.Gln8392Ter)
c.720C>T
c.1053C>T
c.962C>T
c.1090C>T (p.Gln364Ter)
c.24103C>T (p.Gln8035Ter)
n.2066C>T
c.4153C>T (p.Gln1385Ter)
n.9010C>T
c.3256C>T (p.Gln1086Ter)
n.8902C>T
n.1932C>T
n.4340C>T
n.2155C>T
c.1783C>T (p.Gln595Ter)
c.25423C>T (p.Gln8475Ter)
c.25411C>T (p.Gln8471Ter)
c.25402C>T (p.Gln8468Ter)
c.25372C>T (p.Gln8458Ter)
c.25408C>T (p.Gln8470Ter)
c.25354C>T (p.Gln8452Ter)
c.25351C>T (p.Gln8451Ter)
c.25339C>T (p.Gln8447Ter)
c.25282C>T (p.Gln8428Ter)
c.25270C>T (p.Gln8424Ter)
c.25267C>T (p.Gln8423Ter)
c.25264C>T (p.Gln8422Ter)
c.25420C>T (p.Gln8474Ter)
c.25258C>T (p.Gln8420Ter)
c.23698C>T (p.Gln7900Ter)
c.23191C>T (p.Gln7731Ter)
c.18658C>T (p.Gln6220Ter)
c.1924C>T (p.Gln642Ter)
c.25396C>T (p.Gln8466Ter)
c.25345C>T (p.Gln8449Ter)
c.25198C>T (p.Gln8400Ter)
 gnomAD v4
6g.152140090G>CCA366080615SYNE1c.1852C>G (p.Gln618Glu)
c.25318C>G (p.Gln8440Glu)
c.25174C>G (p.Gln8392Glu)
c.720C>G
c.1053C>G
c.962C>G
c.1090C>G (p.Gln364Glu)
c.24103C>G (p.Gln8035Glu)
n.2066C>G
c.4153C>G (p.Gln1385Glu)
n.9010C>G
c.3256C>G (p.Gln1086Glu)
n.8902C>G
n.1932C>G
n.4340C>G
n.2155C>G
c.1783C>G (p.Gln595Glu)
c.25423C>G (p.Gln8475Glu)
c.25411C>G (p.Gln8471Glu)
c.25402C>G (p.Gln8468Glu)
c.25372C>G (p.Gln8458Glu)
c.25408C>G (p.Gln8470Glu)
c.25354C>G (p.Gln8452Glu)
c.25351C>G (p.Gln8451Glu)
c.25339C>G (p.Gln8447Glu)
c.25282C>G (p.Gln8428Glu)
c.25270C>G (p.Gln8424Glu)
c.25267C>G (p.Gln8423Glu)
c.25264C>G (p.Gln8422Glu)
c.25420C>G (p.Gln8474Glu)
c.25258C>G (p.Gln8420Glu)
c.23698C>G (p.Gln7900Glu)
c.23191C>G (p.Gln7731Glu)
c.18658C>G (p.Gln6220Glu)
c.1924C>G (p.Gln642Glu)
c.25396C>G (p.Gln8466Glu)
c.25345C>G (p.Gln8449Glu)
c.25198C>G (p.Gln8400Glu)
6g.152140090G>TCA366080614SYNE1c.1852C>A (p.Gln618Lys)
c.25318C>A (p.Gln8440Lys)
c.25174C>A (p.Gln8392Lys)
c.720C>A
c.1053C>A
c.962C>A
c.1090C>A (p.Gln364Lys)
c.24103C>A (p.Gln8035Lys)
n.2066C>A
c.4153C>A (p.Gln1385Lys)
n.9010C>A
c.3256C>A (p.Gln1086Lys)
n.8902C>A
n.1932C>A
n.4340C>A
n.2155C>A
c.1783C>A (p.Gln595Lys)
c.25423C>A (p.Gln8475Lys)
c.25411C>A (p.Gln8471Lys)
c.25402C>A (p.Gln8468Lys)
c.25372C>A (p.Gln8458Lys)
c.25408C>A (p.Gln8470Lys)
c.25354C>A (p.Gln8452Lys)
c.25351C>A (p.Gln8451Lys)
c.25339C>A (p.Gln8447Lys)
c.25282C>A (p.Gln8428Lys)
c.25270C>A (p.Gln8424Lys)
c.25267C>A (p.Gln8423Lys)
c.25264C>A (p.Gln8422Lys)
c.25420C>A (p.Gln8474Lys)
c.25258C>A (p.Gln8420Lys)
c.23698C>A (p.Gln7900Lys)
c.23191C>A (p.Gln7731Lys)
c.18658C>A (p.Gln6220Lys)
c.1924C>A (p.Gln642Lys)
c.25396C>A (p.Gln8466Lys)
c.25345C>A (p.Gln8449Lys)
c.25198C>A (p.Gln8400Lys)
6g.152140091G>ACA452969927SYNE1c.1851C>T (p.Leu617=)
c.25317C>T (p.Leu8439=)
c.25173C>T (p.Leu8391=)
c.719C>T
c.1052C>T
c.961C>T
c.1089C>T (p.Leu363=)
c.24102C>T (p.Leu8034=)
n.2065C>T
c.4152C>T (p.Leu1384=)
n.9009C>T
c.3255C>T (p.Leu1085=)
n.8901C>T
n.1931C>T
n.4339C>T
n.2154C>T
c.1782C>T (p.Leu594=)
c.25422C>T (p.Leu8474=)
c.25410C>T (p.Leu8470=)
c.25401C>T (p.Leu8467=)
c.25371C>T (p.Leu8457=)
c.25407C>T (p.Leu8469=)
c.25353C>T (p.Leu8451=)
c.25350C>T (p.Leu8450=)
c.25338C>T (p.Leu8446=)
c.25281C>T (p.Leu8427=)
c.25269C>T (p.Leu8423=)
c.25266C>T (p.Leu8422=)
c.25263C>T (p.Leu8421=)
c.25419C>T (p.Leu8473=)
c.25257C>T (p.Leu8419=)
c.23697C>T (p.Leu7899=)
c.23190C>T (p.Leu7730=)
c.18657C>T (p.Leu6219=)
c.1923C>T (p.Leu641=)
c.25395C>T (p.Leu8465=)
c.25344C>T (p.Leu8448=)
c.25197C>T (p.Leu8399=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140091G>CCA452969929SYNE1c.1851C>G (p.Leu617=)
c.25317C>G (p.Leu8439=)
c.25173C>G (p.Leu8391=)
c.719C>G
c.1052C>G
c.961C>G
c.1089C>G (p.Leu363=)
c.24102C>G (p.Leu8034=)
n.2065C>G
c.4152C>G (p.Leu1384=)
n.9009C>G
c.3255C>G (p.Leu1085=)
n.8901C>G
n.1931C>G
n.4339C>G
n.2154C>G
c.1782C>G (p.Leu594=)
c.25422C>G (p.Leu8474=)
c.25410C>G (p.Leu8470=)
c.25401C>G (p.Leu8467=)
c.25371C>G (p.Leu8457=)
c.25407C>G (p.Leu8469=)
c.25353C>G (p.Leu8451=)
c.25350C>G (p.Leu8450=)
c.25338C>G (p.Leu8446=)
c.25281C>G (p.Leu8427=)
c.25269C>G (p.Leu8423=)
c.25266C>G (p.Leu8422=)
c.25263C>G (p.Leu8421=)
c.25419C>G (p.Leu8473=)
c.25257C>G (p.Leu8419=)
c.23697C>G (p.Leu7899=)
c.23190C>G (p.Leu7730=)
c.18657C>G (p.Leu6219=)
c.1923C>G (p.Leu641=)
c.25395C>G (p.Leu8465=)
c.25344C>G (p.Leu8448=)
c.25197C>G (p.Leu8399=)
6g.152140091G>TCA452969930SYNE1c.1851C>A (p.Leu617=)
c.25317C>A (p.Leu8439=)
c.25173C>A (p.Leu8391=)
c.719C>A
c.1052C>A
c.961C>A
c.1089C>A (p.Leu363=)
c.24102C>A (p.Leu8034=)
n.2065C>A
c.4152C>A (p.Leu1384=)
n.9009C>A
c.3255C>A (p.Leu1085=)
n.8901C>A
n.1931C>A
n.4339C>A
n.2154C>A
c.1782C>A (p.Leu594=)
c.25422C>A (p.Leu8474=)
c.25410C>A (p.Leu8470=)
c.25401C>A (p.Leu8467=)
c.25371C>A (p.Leu8457=)
c.25407C>A (p.Leu8469=)
c.25353C>A (p.Leu8451=)
c.25350C>A (p.Leu8450=)
c.25338C>A (p.Leu8446=)
c.25281C>A (p.Leu8427=)
c.25269C>A (p.Leu8423=)
c.25266C>A (p.Leu8422=)
c.25263C>A (p.Leu8421=)
c.25419C>A (p.Leu8473=)
c.25257C>A (p.Leu8419=)
c.23697C>A (p.Leu7899=)
c.23190C>A (p.Leu7730=)
c.18657C>A (p.Leu6219=)
c.1923C>A (p.Leu641=)
c.25395C>A (p.Leu8465=)
c.25344C>A (p.Leu8448=)
c.25197C>A (p.Leu8399=)
6g.152140092A>CCA366080621SYNE1c.1850T>G (p.Leu617Arg)
c.25316T>G (p.Leu8439Arg)
c.25172T>G (p.Leu8391Arg)
c.718T>G
c.1051T>G
c.960T>G
c.1088T>G (p.Leu363Arg)
c.24101T>G (p.Leu8034Arg)
n.2064T>G
c.4151T>G (p.Leu1384Arg)
n.9008T>G
c.3254T>G (p.Leu1085Arg)
n.8900T>G
n.1930T>G
n.4338T>G
n.2153T>G
c.1781T>G (p.Leu594Arg)
c.25421T>G (p.Leu8474Arg)
c.25409T>G (p.Leu8470Arg)
c.25400T>G (p.Leu8467Arg)
c.25370T>G (p.Leu8457Arg)
c.25406T>G (p.Leu8469Arg)
c.25352T>G (p.Leu8451Arg)
c.25349T>G (p.Leu8450Arg)
c.25337T>G (p.Leu8446Arg)
c.25280T>G (p.Leu8427Arg)
c.25268T>G (p.Leu8423Arg)
c.25265T>G (p.Leu8422Arg)
c.25262T>G (p.Leu8421Arg)
c.25418T>G (p.Leu8473Arg)
c.25256T>G (p.Leu8419Arg)
c.23696T>G (p.Leu7899Arg)
c.23189T>G (p.Leu7730Arg)
c.18656T>G (p.Leu6219Arg)
c.1922T>G (p.Leu641Arg)
c.25394T>G (p.Leu8465Arg)
c.25343T>G (p.Leu8448Arg)
c.25196T>G (p.Leu8399Arg)
6g.152140092A>GCA366080623SYNE1c.1850T>C (p.Leu617Pro)
c.25316T>C (p.Leu8439Pro)
c.25172T>C (p.Leu8391Pro)
c.718T>C
c.1051T>C
c.960T>C
c.1088T>C (p.Leu363Pro)
c.24101T>C (p.Leu8034Pro)
n.2064T>C
c.4151T>C (p.Leu1384Pro)
n.9008T>C
c.3254T>C (p.Leu1085Pro)
n.8900T>C
n.1930T>C
n.4338T>C
n.2153T>C
c.1781T>C (p.Leu594Pro)
c.25421T>C (p.Leu8474Pro)
c.25409T>C (p.Leu8470Pro)
c.25400T>C (p.Leu8467Pro)
c.25370T>C (p.Leu8457Pro)
c.25406T>C (p.Leu8469Pro)
c.25352T>C (p.Leu8451Pro)
c.25349T>C (p.Leu8450Pro)
c.25337T>C (p.Leu8446Pro)
c.25280T>C (p.Leu8427Pro)
c.25268T>C (p.Leu8423Pro)
c.25265T>C (p.Leu8422Pro)
c.25262T>C (p.Leu8421Pro)
c.25418T>C (p.Leu8473Pro)
c.25256T>C (p.Leu8419Pro)
c.23696T>C (p.Leu7899Pro)
c.23189T>C (p.Leu7730Pro)
c.18656T>C (p.Leu6219Pro)
c.1922T>C (p.Leu641Pro)
c.25394T>C (p.Leu8465Pro)
c.25343T>C (p.Leu8448Pro)
c.25196T>C (p.Leu8399Pro)
6g.152140092A>TCA366080625SYNE1c.1850T>A (p.Leu617His)
c.25316T>A (p.Leu8439His)
c.25172T>A (p.Leu8391His)
c.718T>A
c.1051T>A
c.960T>A
c.1088T>A (p.Leu363His)
c.24101T>A (p.Leu8034His)
n.2064T>A
c.4151T>A (p.Leu1384His)
n.9008T>A
c.3254T>A (p.Leu1085His)
n.8900T>A
n.1930T>A
n.4338T>A
n.2153T>A
c.1781T>A (p.Leu594His)
c.25421T>A (p.Leu8474His)
c.25409T>A (p.Leu8470His)
c.25400T>A (p.Leu8467His)
c.25370T>A (p.Leu8457His)
c.25406T>A (p.Leu8469His)
c.25352T>A (p.Leu8451His)
c.25349T>A (p.Leu8450His)
c.25337T>A (p.Leu8446His)
c.25280T>A (p.Leu8427His)
c.25268T>A (p.Leu8423His)
c.25265T>A (p.Leu8422His)
c.25262T>A (p.Leu8421His)
c.25418T>A (p.Leu8473His)
c.25256T>A (p.Leu8419His)
c.23696T>A (p.Leu7899His)
c.23189T>A (p.Leu7730His)
c.18656T>A (p.Leu6219His)
c.1922T>A (p.Leu641His)
c.25394T>A (p.Leu8465His)
c.25343T>A (p.Leu8448His)
c.25196T>A (p.Leu8399His)
6g.152140093G>ACA366080627SYNE1c.1849C>T (p.Leu617Phe)
c.25315C>T (p.Leu8439Phe)
c.25171C>T (p.Leu8391Phe)
c.717C>T
c.1050C>T
c.959C>T
c.1087C>T (p.Leu363Phe)
c.24100C>T (p.Leu8034Phe)
n.2063C>T
c.4150C>T (p.Leu1384Phe)
n.9007C>T
c.3253C>T (p.Leu1085Phe)
n.8899C>T
n.1929C>T
n.4337C>T
n.2152C>T
c.1780C>T (p.Leu594Phe)
c.25420C>T (p.Leu8474Phe)
c.25408C>T (p.Leu8470Phe)
c.25399C>T (p.Leu8467Phe)
c.25369C>T (p.Leu8457Phe)
c.25405C>T (p.Leu8469Phe)
c.25351C>T (p.Leu8451Phe)
c.25348C>T (p.Leu8450Phe)
c.25336C>T (p.Leu8446Phe)
c.25279C>T (p.Leu8427Phe)
c.25267C>T (p.Leu8423Phe)
c.25264C>T (p.Leu8422Phe)
c.25261C>T (p.Leu8421Phe)
c.25417C>T (p.Leu8473Phe)
c.25255C>T (p.Leu8419Phe)
c.23695C>T (p.Leu7899Phe)
c.23188C>T (p.Leu7730Phe)
c.18655C>T (p.Leu6219Phe)
c.1921C>T (p.Leu641Phe)
c.25393C>T (p.Leu8465Phe)
c.25342C>T (p.Leu8448Phe)
c.25195C>T (p.Leu8399Phe)
6g.152140093G>CCA366080628SYNE1c.1849C>G (p.Leu617Val)
c.25315C>G (p.Leu8439Val)
c.25171C>G (p.Leu8391Val)
c.717C>G
c.1050C>G
c.959C>G
c.1087C>G (p.Leu363Val)
c.24100C>G (p.Leu8034Val)
n.2063C>G
c.4150C>G (p.Leu1384Val)
n.9007C>G
c.3253C>G (p.Leu1085Val)
n.8899C>G
n.1929C>G
n.4337C>G
n.2152C>G
c.1780C>G (p.Leu594Val)
c.25420C>G (p.Leu8474Val)
c.25408C>G (p.Leu8470Val)
c.25399C>G (p.Leu8467Val)
c.25369C>G (p.Leu8457Val)
c.25405C>G (p.Leu8469Val)
c.25351C>G (p.Leu8451Val)
c.25348C>G (p.Leu8450Val)
c.25336C>G (p.Leu8446Val)
c.25279C>G (p.Leu8427Val)
c.25267C>G (p.Leu8423Val)
c.25264C>G (p.Leu8422Val)
c.25261C>G (p.Leu8421Val)
c.25417C>G (p.Leu8473Val)
c.25255C>G (p.Leu8419Val)
c.23695C>G (p.Leu7899Val)
c.23188C>G (p.Leu7730Val)
c.18655C>G (p.Leu6219Val)
c.1921C>G (p.Leu641Val)
c.25393C>G (p.Leu8465Val)
c.25342C>G (p.Leu8448Val)
c.25195C>G (p.Leu8399Val)
6g.152140093G>TCA366080630SYNE1c.1849C>A (p.Leu617Ile)
c.25315C>A (p.Leu8439Ile)
c.25171C>A (p.Leu8391Ile)
c.717C>A
c.1050C>A
c.959C>A
c.1087C>A (p.Leu363Ile)
c.24100C>A (p.Leu8034Ile)
n.2063C>A
c.4150C>A (p.Leu1384Ile)
n.9007C>A
c.3253C>A (p.Leu1085Ile)
n.8899C>A
n.1929C>A
n.4337C>A
n.2152C>A
c.1780C>A (p.Leu594Ile)
c.25420C>A (p.Leu8474Ile)
c.25408C>A (p.Leu8470Ile)
c.25399C>A (p.Leu8467Ile)
c.25369C>A (p.Leu8457Ile)
c.25405C>A (p.Leu8469Ile)
c.25351C>A (p.Leu8451Ile)
c.25348C>A (p.Leu8450Ile)
c.25336C>A (p.Leu8446Ile)
c.25279C>A (p.Leu8427Ile)
c.25267C>A (p.Leu8423Ile)
c.25264C>A (p.Leu8422Ile)
c.25261C>A (p.Leu8421Ile)
c.25417C>A (p.Leu8473Ile)
c.25255C>A (p.Leu8419Ile)
c.23695C>A (p.Leu7899Ile)
c.23188C>A (p.Leu7730Ile)
c.18655C>A (p.Leu6219Ile)
c.1921C>A (p.Leu641Ile)
c.25393C>A (p.Leu8465Ile)
c.25342C>A (p.Leu8448Ile)
c.25195C>A (p.Leu8399Ile)
 gnomAD v4
6g.152140094G>ACA452969933SYNE1c.1848C>T (p.Asn616=)
c.25314C>T (p.Asn8438=)
c.25170C>T (p.Asn8390=)
c.716C>T
c.1049C>T
c.958C>T
c.1086C>T (p.Asn362=)
c.24099C>T (p.Asn8033=)
n.2062C>T
c.4149C>T (p.Asn1383=)
n.9006C>T
c.3252C>T (p.Asn1084=)
n.8898C>T
n.1928C>T
n.4336C>T
n.2151C>T
c.1779C>T (p.Asn593=)
c.25419C>T (p.Asn8473=)
c.25407C>T (p.Asn8469=)
c.25398C>T (p.Asn8466=)
c.25368C>T (p.Asn8456=)
c.25404C>T (p.Asn8468=)
c.25350C>T (p.Asn8450=)
c.25347C>T (p.Asn8449=)
c.25335C>T (p.Asn8445=)
c.25278C>T (p.Asn8426=)
c.25266C>T (p.Asn8422=)
c.25263C>T (p.Asn8421=)
c.25260C>T (p.Asn8420=)
c.25416C>T (p.Asn8472=)
c.25254C>T (p.Asn8418=)
c.23694C>T (p.Asn7898=)
c.23187C>T (p.Asn7729=)
c.18654C>T (p.Asn6218=)
c.1920C>T (p.Asn640=)
c.25392C>T (p.Asn8464=)
c.25341C>T (p.Asn8447=)
c.25194C>T (p.Asn8398=)
6g.152140094G>CCA366080633SYNE1c.1848C>G (p.Asn616Lys)
c.25314C>G (p.Asn8438Lys)
c.25170C>G (p.Asn8390Lys)
c.716C>G
c.1049C>G
c.958C>G
c.1086C>G (p.Asn362Lys)
c.24099C>G (p.Asn8033Lys)
n.2062C>G
c.4149C>G (p.Asn1383Lys)
n.9006C>G
c.3252C>G (p.Asn1084Lys)
n.8898C>G
n.1928C>G
n.4336C>G
n.2151C>G
c.1779C>G (p.Asn593Lys)
c.25419C>G (p.Asn8473Lys)
c.25407C>G (p.Asn8469Lys)
c.25398C>G (p.Asn8466Lys)
c.25368C>G (p.Asn8456Lys)
c.25404C>G (p.Asn8468Lys)
c.25350C>G (p.Asn8450Lys)
c.25347C>G (p.Asn8449Lys)
c.25335C>G (p.Asn8445Lys)
c.25278C>G (p.Asn8426Lys)
c.25266C>G (p.Asn8422Lys)
c.25263C>G (p.Asn8421Lys)
c.25260C>G (p.Asn8420Lys)
c.25416C>G (p.Asn8472Lys)
c.25254C>G (p.Asn8418Lys)
c.23694C>G (p.Asn7898Lys)
c.23187C>G (p.Asn7729Lys)
c.18654C>G (p.Asn6218Lys)
c.1920C>G (p.Asn640Lys)
c.25392C>G (p.Asn8464Lys)
c.25341C>G (p.Asn8447Lys)
c.25194C>G (p.Asn8398Lys)
 gnomAD v4
6g.152140094G>TCA366080636SYNE1c.1848C>A (p.Asn616Lys)
c.25314C>A (p.Asn8438Lys)
c.25170C>A (p.Asn8390Lys)
c.716C>A
c.1049C>A
c.958C>A
c.1086C>A (p.Asn362Lys)
c.24099C>A (p.Asn8033Lys)
n.2062C>A
c.4149C>A (p.Asn1383Lys)
n.9006C>A
c.3252C>A (p.Asn1084Lys)
n.8898C>A
n.1928C>A
n.4336C>A
n.2151C>A
c.1779C>A (p.Asn593Lys)
c.25419C>A (p.Asn8473Lys)
c.25407C>A (p.Asn8469Lys)
c.25398C>A (p.Asn8466Lys)
c.25368C>A (p.Asn8456Lys)
c.25404C>A (p.Asn8468Lys)
c.25350C>A (p.Asn8450Lys)
c.25347C>A (p.Asn8449Lys)
c.25335C>A (p.Asn8445Lys)
c.25278C>A (p.Asn8426Lys)
c.25266C>A (p.Asn8422Lys)
c.25263C>A (p.Asn8421Lys)
c.25260C>A (p.Asn8420Lys)
c.25416C>A (p.Asn8472Lys)
c.25254C>A (p.Asn8418Lys)
c.23694C>A (p.Asn7898Lys)
c.23187C>A (p.Asn7729Lys)
c.18654C>A (p.Asn6218Lys)
c.1920C>A (p.Asn640Lys)
c.25392C>A (p.Asn8464Lys)
c.25341C>A (p.Asn8447Lys)
c.25194C>A (p.Asn8398Lys)
6g.152140095T>ACA366080638SYNE1c.1847A>T (p.Asn616Ile)
c.25313A>T (p.Asn8438Ile)
c.25169A>T (p.Asn8390Ile)
c.715A>T
c.1048A>T
c.957A>T
c.1085A>T (p.Asn362Ile)
c.24098A>T (p.Asn8033Ile)
n.2061A>T
c.4148A>T (p.Asn1383Ile)
n.9005A>T
c.3251A>T (p.Asn1084Ile)
n.8897A>T
n.1927A>T
n.4335A>T
n.2150A>T
c.1778A>T (p.Asn593Ile)
c.25418A>T (p.Asn8473Ile)
c.25406A>T (p.Asn8469Ile)
c.25397A>T (p.Asn8466Ile)
c.25367A>T (p.Asn8456Ile)
c.25403A>T (p.Asn8468Ile)
c.25349A>T (p.Asn8450Ile)
c.25346A>T (p.Asn8449Ile)
c.25334A>T (p.Asn8445Ile)
c.25277A>T (p.Asn8426Ile)
c.25265A>T (p.Asn8422Ile)
c.25262A>T (p.Asn8421Ile)
c.25259A>T (p.Asn8420Ile)
c.25415A>T (p.Asn8472Ile)
c.25253A>T (p.Asn8418Ile)
c.23693A>T (p.Asn7898Ile)
c.23186A>T (p.Asn7729Ile)
c.18653A>T (p.Asn6218Ile)
c.1919A>T (p.Asn640Ile)
c.25391A>T (p.Asn8464Ile)
c.25340A>T (p.Asn8447Ile)
c.25193A>T (p.Asn8398Ile)
6g.152140095T>CCA366080641SYNE1c.1847A>G (p.Asn616Ser)
c.25313A>G (p.Asn8438Ser)
c.25169A>G (p.Asn8390Ser)
c.715A>G
c.1048A>G
c.957A>G
c.1085A>G (p.Asn362Ser)
c.24098A>G (p.Asn8033Ser)
n.2061A>G
c.4148A>G (p.Asn1383Ser)
n.9005A>G
c.3251A>G (p.Asn1084Ser)
n.8897A>G
n.1927A>G
n.4335A>G
n.2150A>G
c.1778A>G (p.Asn593Ser)
c.25418A>G (p.Asn8473Ser)
c.25406A>G (p.Asn8469Ser)
c.25397A>G (p.Asn8466Ser)
c.25367A>G (p.Asn8456Ser)
c.25403A>G (p.Asn8468Ser)
c.25349A>G (p.Asn8450Ser)
c.25346A>G (p.Asn8449Ser)
c.25334A>G (p.Asn8445Ser)
c.25277A>G (p.Asn8426Ser)
c.25265A>G (p.Asn8422Ser)
c.25262A>G (p.Asn8421Ser)
c.25259A>G (p.Asn8420Ser)
c.25415A>G (p.Asn8472Ser)
c.25253A>G (p.Asn8418Ser)
c.23693A>G (p.Asn7898Ser)
c.23186A>G (p.Asn7729Ser)
c.18653A>G (p.Asn6218Ser)
c.1919A>G (p.Asn640Ser)
c.25391A>G (p.Asn8464Ser)
c.25340A>G (p.Asn8447Ser)
c.25193A>G (p.Asn8398Ser)
6g.152140095T>GCA366080643SYNE1c.1847A>C (p.Asn616Thr)
c.25313A>C (p.Asn8438Thr)
c.25169A>C (p.Asn8390Thr)
c.715A>C
c.1048A>C
c.957A>C
c.1085A>C (p.Asn362Thr)
c.24098A>C (p.Asn8033Thr)
n.2061A>C
c.4148A>C (p.Asn1383Thr)
n.9005A>C
c.3251A>C (p.Asn1084Thr)
n.8897A>C
n.1927A>C
n.4335A>C
n.2150A>C
c.1778A>C (p.Asn593Thr)
c.25418A>C (p.Asn8473Thr)
c.25406A>C (p.Asn8469Thr)
c.25397A>C (p.Asn8466Thr)
c.25367A>C (p.Asn8456Thr)
c.25403A>C (p.Asn8468Thr)
c.25349A>C (p.Asn8450Thr)
c.25346A>C (p.Asn8449Thr)
c.25334A>C (p.Asn8445Thr)
c.25277A>C (p.Asn8426Thr)
c.25265A>C (p.Asn8422Thr)
c.25262A>C (p.Asn8421Thr)
c.25259A>C (p.Asn8420Thr)
c.25415A>C (p.Asn8472Thr)
c.25253A>C (p.Asn8418Thr)
c.23693A>C (p.Asn7898Thr)
c.23186A>C (p.Asn7729Thr)
c.18653A>C (p.Asn6218Thr)
c.1919A>C (p.Asn640Thr)
c.25391A>C (p.Asn8464Thr)
c.25340A>C (p.Asn8447Thr)
c.25193A>C (p.Asn8398Thr)
6g.152140096T>ACA366080645SYNE1c.1846A>T (p.Asn616Tyr)
c.25312A>T (p.Asn8438Tyr)
c.25168A>T (p.Asn8390Tyr)
c.714A>T
c.1047A>T
c.956A>T
c.1084A>T (p.Asn362Tyr)
c.24097A>T (p.Asn8033Tyr)
n.2060A>T
c.4147A>T (p.Asn1383Tyr)
n.9004A>T
c.3250A>T (p.Asn1084Tyr)
n.8896A>T
n.1926A>T
n.4334A>T
n.2149A>T
c.1777A>T (p.Asn593Tyr)
c.25417A>T (p.Asn8473Tyr)
c.25405A>T (p.Asn8469Tyr)
c.25396A>T (p.Asn8466Tyr)
c.25366A>T (p.Asn8456Tyr)
c.25402A>T (p.Asn8468Tyr)
c.25348A>T (p.Asn8450Tyr)
c.25345A>T (p.Asn8449Tyr)
c.25333A>T (p.Asn8445Tyr)
c.25276A>T (p.Asn8426Tyr)
c.25264A>T (p.Asn8422Tyr)
c.25261A>T (p.Asn8421Tyr)
c.25258A>T (p.Asn8420Tyr)
c.25414A>T (p.Asn8472Tyr)
c.25252A>T (p.Asn8418Tyr)
c.23692A>T (p.Asn7898Tyr)
c.23185A>T (p.Asn7729Tyr)
c.18652A>T (p.Asn6218Tyr)
c.1918A>T (p.Asn640Tyr)
c.25390A>T (p.Asn8464Tyr)
c.25339A>T (p.Asn8447Tyr)
c.25192A>T (p.Asn8398Tyr)
6g.152140096T>CCA366080648SYNE1c.1846A>G (p.Asn616Asp)
c.25312A>G (p.Asn8438Asp)
c.25168A>G (p.Asn8390Asp)
c.714A>G
c.1047A>G
c.956A>G
c.1084A>G (p.Asn362Asp)
c.24097A>G (p.Asn8033Asp)
n.2060A>G
c.4147A>G (p.Asn1383Asp)
n.9004A>G
c.3250A>G (p.Asn1084Asp)
n.8896A>G
n.1926A>G
n.4334A>G
n.2149A>G
c.1777A>G (p.Asn593Asp)
c.25417A>G (p.Asn8473Asp)
c.25405A>G (p.Asn8469Asp)
c.25396A>G (p.Asn8466Asp)
c.25366A>G (p.Asn8456Asp)
c.25402A>G (p.Asn8468Asp)
c.25348A>G (p.Asn8450Asp)
c.25345A>G (p.Asn8449Asp)
c.25333A>G (p.Asn8445Asp)
c.25276A>G (p.Asn8426Asp)
c.25264A>G (p.Asn8422Asp)
c.25261A>G (p.Asn8421Asp)
c.25258A>G (p.Asn8420Asp)
c.25414A>G (p.Asn8472Asp)
c.25252A>G (p.Asn8418Asp)
c.23692A>G (p.Asn7898Asp)
c.23185A>G (p.Asn7729Asp)
c.18652A>G (p.Asn6218Asp)
c.1918A>G (p.Asn640Asp)
c.25390A>G (p.Asn8464Asp)
c.25339A>G (p.Asn8447Asp)
c.25192A>G (p.Asn8398Asp)
6g.152140096T>GCA366080650SYNE1c.1846A>C (p.Asn616His)
c.25312A>C (p.Asn8438His)
c.25168A>C (p.Asn8390His)
c.714A>C
c.1047A>C
c.956A>C
c.1084A>C (p.Asn362His)
c.24097A>C (p.Asn8033His)
n.2060A>C
c.4147A>C (p.Asn1383His)
n.9004A>C
c.3250A>C (p.Asn1084His)
n.8896A>C
n.1926A>C
n.4334A>C
n.2149A>C
c.1777A>C (p.Asn593His)
c.25417A>C (p.Asn8473His)
c.25405A>C (p.Asn8469His)
c.25396A>C (p.Asn8466His)
c.25366A>C (p.Asn8456His)
c.25402A>C (p.Asn8468His)
c.25348A>C (p.Asn8450His)
c.25345A>C (p.Asn8449His)
c.25333A>C (p.Asn8445His)
c.25276A>C (p.Asn8426His)
c.25264A>C (p.Asn8422His)
c.25261A>C (p.Asn8421His)
c.25258A>C (p.Asn8420His)
c.25414A>C (p.Asn8472His)
c.25252A>C (p.Asn8418His)
c.23692A>C (p.Asn7898His)
c.23185A>C (p.Asn7729His)
c.18652A>C (p.Asn6218His)
c.1918A>C (p.Asn640His)
c.25390A>C (p.Asn8464His)
c.25339A>C (p.Asn8447His)
c.25192A>C (p.Asn8398His)
6g.152140097C>ACA366080655SYNE1c.1845G>T (p.Gln615His)
c.25311G>T (p.Gln8437His)
c.25167G>T (p.Gln8389His)
c.713G>T
c.1046G>T
c.955G>T
c.1083G>T (p.Gln361His)
c.24096G>T (p.Gln8032His)
n.2059G>T
c.4146G>T (p.Gln1382His)
n.9003G>T
c.3249G>T (p.Gln1083His)
n.8895G>T
n.1925G>T
n.4333G>T
n.2148G>T
c.1776G>T (p.Gln592His)
c.25416G>T (p.Gln8472His)
c.25404G>T (p.Gln8468His)
c.25395G>T (p.Gln8465His)
c.25365G>T (p.Gln8455His)
c.25401G>T (p.Gln8467His)
c.25347G>T (p.Gln8449His)
c.25344G>T (p.Gln8448His)
c.25332G>T (p.Gln8444His)
c.25275G>T (p.Gln8425His)
c.25263G>T (p.Gln8421His)
c.25260G>T (p.Gln8420His)
c.25257G>T (p.Gln8419His)
c.25413G>T (p.Gln8471His)
c.25251G>T (p.Gln8417His)
c.23691G>T (p.Gln7897His)
c.23184G>T (p.Gln7728His)
c.18651G>T (p.Gln6217His)
c.1917G>T (p.Gln639His)
c.25389G>T (p.Gln8463His)
c.25338G>T (p.Gln8446His)
c.25191G>T (p.Gln8397His)
6g.152140097C>GCA366080653SYNE1c.1845G>C (p.Gln615His)
c.25311G>C (p.Gln8437His)
c.25167G>C (p.Gln8389His)
c.713G>C
c.1046G>C
c.955G>C
c.1083G>C (p.Gln361His)
c.24096G>C (p.Gln8032His)
n.2059G>C
c.4146G>C (p.Gln1382His)
n.9003G>C
c.3249G>C (p.Gln1083His)
n.8895G>C
n.1925G>C
n.4333G>C
n.2148G>C
c.1776G>C (p.Gln592His)
c.25416G>C (p.Gln8472His)
c.25404G>C (p.Gln8468His)
c.25395G>C (p.Gln8465His)
c.25365G>C (p.Gln8455His)
c.25401G>C (p.Gln8467His)
c.25347G>C (p.Gln8449His)
c.25344G>C (p.Gln8448His)
c.25332G>C (p.Gln8444His)
c.25275G>C (p.Gln8425His)
c.25263G>C (p.Gln8421His)
c.25260G>C (p.Gln8420His)
c.25257G>C (p.Gln8419His)
c.25413G>C (p.Gln8471His)
c.25251G>C (p.Gln8417His)
c.23691G>C (p.Gln7897His)
c.23184G>C (p.Gln7728His)
c.18651G>C (p.Gln6217His)
c.1917G>C (p.Gln639His)
c.25389G>C (p.Gln8463His)
c.25338G>C (p.Gln8446His)
c.25191G>C (p.Gln8397His)
6g.152140097C>TCA452969936SYNE1c.1845G>A (p.Gln615=)
c.25311G>A (p.Gln8437=)
c.25167G>A (p.Gln8389=)
c.713G>A
c.1046G>A
c.955G>A
c.1083G>A (p.Gln361=)
c.24096G>A (p.Gln8032=)
n.2059G>A
c.4146G>A (p.Gln1382=)
n.9003G>A
c.3249G>A (p.Gln1083=)
n.8895G>A
n.1925G>A
n.4333G>A
n.2148G>A
c.1776G>A (p.Gln592=)
c.25416G>A (p.Gln8472=)
c.25404G>A (p.Gln8468=)
c.25395G>A (p.Gln8465=)
c.25365G>A (p.Gln8455=)
c.25401G>A (p.Gln8467=)
c.25347G>A (p.Gln8449=)
c.25344G>A (p.Gln8448=)
c.25332G>A (p.Gln8444=)
c.25275G>A (p.Gln8425=)
c.25263G>A (p.Gln8421=)
c.25260G>A (p.Gln8420=)
c.25257G>A (p.Gln8419=)
c.25413G>A (p.Gln8471=)
c.25251G>A (p.Gln8417=)
c.23691G>A (p.Gln7897=)
c.23184G>A (p.Gln7728=)
c.18651G>A (p.Gln6217=)
c.1917G>A (p.Gln639=)
c.25389G>A (p.Gln8463=)
c.25338G>A (p.Gln8446=)
c.25191G>A (p.Gln8397=)
6g.152140098T>ACA366080659SYNE1c.1844A>T (p.Gln615Leu)
c.25310A>T (p.Gln8437Leu)
c.25166A>T (p.Gln8389Leu)
c.712A>T
c.1045A>T
c.954A>T
c.1082A>T (p.Gln361Leu)
c.24095A>T (p.Gln8032Leu)
n.2058A>T
c.4145A>T (p.Gln1382Leu)
n.9002A>T
c.3248A>T (p.Gln1083Leu)
n.8894A>T
n.1924A>T
n.4332A>T
n.2147A>T
c.1775A>T (p.Gln592Leu)
c.25415A>T (p.Gln8472Leu)
c.25403A>T (p.Gln8468Leu)
c.25394A>T (p.Gln8465Leu)
c.25364A>T (p.Gln8455Leu)
c.25400A>T (p.Gln8467Leu)
c.25346A>T (p.Gln8449Leu)
c.25343A>T (p.Gln8448Leu)
c.25331A>T (p.Gln8444Leu)
c.25274A>T (p.Gln8425Leu)
c.25262A>T (p.Gln8421Leu)
c.25259A>T (p.Gln8420Leu)
c.25256A>T (p.Gln8419Leu)
c.25412A>T (p.Gln8471Leu)
c.25250A>T (p.Gln8417Leu)
c.23690A>T (p.Gln7897Leu)
c.23183A>T (p.Gln7728Leu)
c.18650A>T (p.Gln6217Leu)
c.1916A>T (p.Gln639Leu)
c.25388A>T (p.Gln8463Leu)
c.25337A>T (p.Gln8446Leu)
c.25190A>T (p.Gln8397Leu)
6g.152140098T>CCA366080661SYNE1c.1844A>G (p.Gln615Arg)
c.25310A>G (p.Gln8437Arg)
c.25166A>G (p.Gln8389Arg)
c.712A>G
c.1045A>G
c.954A>G
c.1082A>G (p.Gln361Arg)
c.24095A>G (p.Gln8032Arg)
n.2058A>G
c.4145A>G (p.Gln1382Arg)
n.9002A>G
c.3248A>G (p.Gln1083Arg)
n.8894A>G
n.1924A>G
n.4332A>G
n.2147A>G
c.1775A>G (p.Gln592Arg)
c.25415A>G (p.Gln8472Arg)
c.25403A>G (p.Gln8468Arg)
c.25394A>G (p.Gln8465Arg)
c.25364A>G (p.Gln8455Arg)
c.25400A>G (p.Gln8467Arg)
c.25346A>G (p.Gln8449Arg)
c.25343A>G (p.Gln8448Arg)
c.25331A>G (p.Gln8444Arg)
c.25274A>G (p.Gln8425Arg)
c.25262A>G (p.Gln8421Arg)
c.25259A>G (p.Gln8420Arg)
c.25256A>G (p.Gln8419Arg)
c.25412A>G (p.Gln8471Arg)
c.25250A>G (p.Gln8417Arg)
c.23690A>G (p.Gln7897Arg)
c.23183A>G (p.Gln7728Arg)
c.18650A>G (p.Gln6217Arg)
c.1916A>G (p.Gln639Arg)
c.25388A>G (p.Gln8463Arg)
c.25337A>G (p.Gln8446Arg)
c.25190A>G (p.Gln8397Arg)
6g.152140098T>GCA366080663SYNE1c.1844A>C (p.Gln615Pro)
c.25310A>C (p.Gln8437Pro)
c.25166A>C (p.Gln8389Pro)
c.712A>C
c.1045A>C
c.954A>C
c.1082A>C (p.Gln361Pro)
c.24095A>C (p.Gln8032Pro)
n.2058A>C
c.4145A>C (p.Gln1382Pro)
n.9002A>C
c.3248A>C (p.Gln1083Pro)
n.8894A>C
n.1924A>C
n.4332A>C
n.2147A>C
c.1775A>C (p.Gln592Pro)
c.25415A>C (p.Gln8472Pro)
c.25403A>C (p.Gln8468Pro)
c.25394A>C (p.Gln8465Pro)
c.25364A>C (p.Gln8455Pro)
c.25400A>C (p.Gln8467Pro)
c.25346A>C (p.Gln8449Pro)
c.25343A>C (p.Gln8448Pro)
c.25331A>C (p.Gln8444Pro)
c.25274A>C (p.Gln8425Pro)
c.25262A>C (p.Gln8421Pro)
c.25259A>C (p.Gln8420Pro)
c.25256A>C (p.Gln8419Pro)
c.25412A>C (p.Gln8471Pro)
c.25250A>C (p.Gln8417Pro)
c.23690A>C (p.Gln7897Pro)
c.23183A>C (p.Gln7728Pro)
c.18650A>C (p.Gln6217Pro)
c.1916A>C (p.Gln639Pro)
c.25388A>C (p.Gln8463Pro)
c.25337A>C (p.Gln8446Pro)
c.25190A>C (p.Gln8397Pro)
6g.152140099G>ACA366080673SYNE1c.1843C>T (p.Gln615Ter)
c.25309C>T (p.Gln8437Ter)
c.25165C>T (p.Gln8389Ter)
c.711C>T
c.1044C>T
c.953C>T
c.1081C>T (p.Gln361Ter)
c.24094C>T (p.Gln8032Ter)
n.2057C>T
c.4144C>T (p.Gln1382Ter)
n.9001C>T
c.3247C>T (p.Gln1083Ter)
n.8893C>T
n.1923C>T
n.4331C>T
n.2146C>T
c.1774C>T (p.Gln592Ter)
c.25414C>T (p.Gln8472Ter)
c.25402C>T (p.Gln8468Ter)
c.25393C>T (p.Gln8465Ter)
c.25363C>T (p.Gln8455Ter)
c.25399C>T (p.Gln8467Ter)
c.25345C>T (p.Gln8449Ter)
c.25342C>T (p.Gln8448Ter)
c.25330C>T (p.Gln8444Ter)
c.25273C>T (p.Gln8425Ter)
c.25261C>T (p.Gln8421Ter)
c.25258C>T (p.Gln8420Ter)
c.25255C>T (p.Gln8419Ter)
c.25411C>T (p.Gln8471Ter)
c.25249C>T (p.Gln8417Ter)
c.23689C>T (p.Gln7897Ter)
c.23182C>T (p.Gln7728Ter)
c.18649C>T (p.Gln6217Ter)
c.1915C>T (p.Gln639Ter)
c.25387C>T (p.Gln8463Ter)
c.25336C>T (p.Gln8446Ter)
c.25189C>T (p.Gln8397Ter)
6g.152140099G>CCA366080674SYNE1c.1843C>G (p.Gln615Glu)
c.25309C>G (p.Gln8437Glu)
c.25165C>G (p.Gln8389Glu)
c.711C>G
c.1044C>G
c.953C>G
c.1081C>G (p.Gln361Glu)
c.24094C>G (p.Gln8032Glu)
n.2057C>G
c.4144C>G (p.Gln1382Glu)
n.9001C>G
c.3247C>G (p.Gln1083Glu)
n.8893C>G
n.1923C>G
n.4331C>G
n.2146C>G
c.1774C>G (p.Gln592Glu)
c.25414C>G (p.Gln8472Glu)
c.25402C>G (p.Gln8468Glu)
c.25393C>G (p.Gln8465Glu)
c.25363C>G (p.Gln8455Glu)
c.25399C>G (p.Gln8467Glu)
c.25345C>G (p.Gln8449Glu)
c.25342C>G (p.Gln8448Glu)
c.25330C>G (p.Gln8444Glu)
c.25273C>G (p.Gln8425Glu)
c.25261C>G (p.Gln8421Glu)
c.25258C>G (p.Gln8420Glu)
c.25255C>G (p.Gln8419Glu)
c.25411C>G (p.Gln8471Glu)
c.25249C>G (p.Gln8417Glu)
c.23689C>G (p.Gln7897Glu)
c.23182C>G (p.Gln7728Glu)
c.18649C>G (p.Gln6217Glu)
c.1915C>G (p.Gln639Glu)
c.25387C>G (p.Gln8463Glu)
c.25336C>G (p.Gln8446Glu)
c.25189C>G (p.Gln8397Glu)
6g.152140099G>TCA366080677SYNE1c.1843C>A (p.Gln615Lys)
c.25309C>A (p.Gln8437Lys)
c.25165C>A (p.Gln8389Lys)
c.711C>A
c.1044C>A
c.953C>A
c.1081C>A (p.Gln361Lys)
c.24094C>A (p.Gln8032Lys)
n.2057C>A
c.4144C>A (p.Gln1382Lys)
n.9001C>A
c.3247C>A (p.Gln1083Lys)
n.8893C>A
n.1923C>A
n.4331C>A
n.2146C>A
c.1774C>A (p.Gln592Lys)
c.25414C>A (p.Gln8472Lys)
c.25402C>A (p.Gln8468Lys)
c.25393C>A (p.Gln8465Lys)
c.25363C>A (p.Gln8455Lys)
c.25399C>A (p.Gln8467Lys)
c.25345C>A (p.Gln8449Lys)
c.25342C>A (p.Gln8448Lys)
c.25330C>A (p.Gln8444Lys)
c.25273C>A (p.Gln8425Lys)
c.25261C>A (p.Gln8421Lys)
c.25258C>A (p.Gln8420Lys)
c.25255C>A (p.Gln8419Lys)
c.25411C>A (p.Gln8471Lys)
c.25249C>A (p.Gln8417Lys)
c.23689C>A (p.Gln7897Lys)
c.23182C>A (p.Gln7728Lys)
c.18649C>A (p.Gln6217Lys)
c.1915C>A (p.Gln639Lys)
c.25387C>A (p.Gln8463Lys)
c.25336C>A (p.Gln8446Lys)
c.25189C>A (p.Gln8397Lys)
6g.152140100C>ACA366080684SYNE1c.1842G>T (p.Lys614Asn)
c.25308G>T (p.Lys8436Asn)
c.25164G>T (p.Lys8388Asn)
c.710G>T
c.1043G>T
c.952G>T
c.1080G>T (p.Lys360Asn)
c.24093G>T (p.Lys8031Asn)
n.2056G>T
c.4143G>T (p.Lys1381Asn)
n.9000G>T
c.3246G>T (p.Lys1082Asn)
n.8892G>T
n.1922G>T
n.4330G>T
n.2145G>T
c.1773G>T (p.Lys591Asn)
c.25413G>T (p.Lys8471Asn)
c.25401G>T (p.Lys8467Asn)
c.25392G>T (p.Lys8464Asn)
c.25362G>T (p.Lys8454Asn)
c.25398G>T (p.Lys8466Asn)
c.25344G>T (p.Lys8448Asn)
c.25341G>T (p.Lys8447Asn)
c.25329G>T (p.Lys8443Asn)
c.25272G>T (p.Lys8424Asn)
c.25260G>T (p.Lys8420Asn)
c.25257G>T (p.Lys8419Asn)
c.25254G>T (p.Lys8418Asn)
c.25410G>T (p.Lys8470Asn)
c.25248G>T (p.Lys8416Asn)
c.23688G>T (p.Lys7896Asn)
c.23181G>T (p.Lys7727Asn)
c.18648G>T (p.Lys6216Asn)
c.1914G>T (p.Lys638Asn)
c.25386G>T (p.Lys8462Asn)
c.25335G>T (p.Lys8445Asn)
c.25188G>T (p.Lys8396Asn)
6g.152140100C=CA1673206360SYNE1c.1842G= (p.Lys614=)
c.25308G= (p.Lys8436=)
c.25164G= (p.Lys8388=)
c.710G=
c.1043G=
c.952G=
c.1080G= (p.Lys360=)
c.24093G= (p.Lys8031=)
n.2056G=
c.4143G= (p.Lys1381=)
n.9000G=
c.3246G= (p.Lys1082=)
n.8892G=
n.1922G=
n.4330G=
n.2145G=
c.1773G= (p.Lys591=)
c.25413G= (p.Lys8471=)
c.25401G= (p.Lys8467=)
c.25392G= (p.Lys8464=)
c.25362G= (p.Lys8454=)
c.25398G= (p.Lys8466=)
c.25344G= (p.Lys8448=)
c.25341G= (p.Lys8447=)
c.25329G= (p.Lys8443=)
c.25272G= (p.Lys8424=)
c.25260G= (p.Lys8420=)
c.25257G= (p.Lys8419=)
c.25254G= (p.Lys8418=)
c.25410G= (p.Lys8470=)
c.25248G= (p.Lys8416=)
c.23688G= (p.Lys7896=)
c.23181G= (p.Lys7727=)
c.18648G= (p.Lys6216=)
c.1914G= (p.Lys638=)
c.25386G= (p.Lys8462=)
c.25335G= (p.Lys8445=)
c.25188G= (p.Lys8396=)
6g.152140100C>GCA366080680SYNE1c.1842G>C (p.Lys614Asn)
c.25308G>C (p.Lys8436Asn)
c.25164G>C (p.Lys8388Asn)
c.710G>C
c.1043G>C
c.952G>C
c.1080G>C (p.Lys360Asn)
c.24093G>C (p.Lys8031Asn)
n.2056G>C
c.4143G>C (p.Lys1381Asn)
n.9000G>C
c.3246G>C (p.Lys1082Asn)
n.8892G>C
n.1922G>C
n.4330G>C
n.2145G>C
c.1773G>C (p.Lys591Asn)
c.25413G>C (p.Lys8471Asn)
c.25401G>C (p.Lys8467Asn)
c.25392G>C (p.Lys8464Asn)
c.25362G>C (p.Lys8454Asn)
c.25398G>C (p.Lys8466Asn)
c.25344G>C (p.Lys8448Asn)
c.25341G>C (p.Lys8447Asn)
c.25329G>C (p.Lys8443Asn)
c.25272G>C (p.Lys8424Asn)
c.25260G>C (p.Lys8420Asn)
c.25257G>C (p.Lys8419Asn)
c.25254G>C (p.Lys8418Asn)
c.25410G>C (p.Lys8470Asn)
c.25248G>C (p.Lys8416Asn)
c.23688G>C (p.Lys7896Asn)
c.23181G>C (p.Lys7727Asn)
c.18648G>C (p.Lys6216Asn)
c.1914G>C (p.Lys638Asn)
c.25386G>C (p.Lys8462Asn)
c.25335G>C (p.Lys8445Asn)
c.25188G>C (p.Lys8396Asn)
6g.152140100C>TCA452969940SYNE1c.1842G>A (p.Lys614=)
c.25308G>A (p.Lys8436=)
c.25164G>A (p.Lys8388=)
c.710G>A
c.1043G>A
c.952G>A
c.1080G>A (p.Lys360=)
c.24093G>A (p.Lys8031=)
n.2056G>A
c.4143G>A (p.Lys1381=)
n.9000G>A
c.3246G>A (p.Lys1082=)
n.8892G>A
n.1922G>A
n.4330G>A
n.2145G>A
c.1773G>A (p.Lys591=)
c.25413G>A (p.Lys8471=)
c.25401G>A (p.Lys8467=)
c.25392G>A (p.Lys8464=)
c.25362G>A (p.Lys8454=)
c.25398G>A (p.Lys8466=)
c.25344G>A (p.Lys8448=)
c.25341G>A (p.Lys8447=)
c.25329G>A (p.Lys8443=)
c.25272G>A (p.Lys8424=)
c.25260G>A (p.Lys8420=)
c.25257G>A (p.Lys8419=)
c.25254G>A (p.Lys8418=)
c.25410G>A (p.Lys8470=)
c.25248G>A (p.Lys8416=)
c.23688G>A (p.Lys7896=)
c.23181G>A (p.Lys7727=)
c.18648G>A (p.Lys6216=)
c.1914G>A (p.Lys638=)
c.25386G>A (p.Lys8462=)
c.25335G>A (p.Lys8445=)
c.25188G>A (p.Lys8396=)
 dbSNP gnomAD v3 gnomAD v4
6g.152140101T>ACA366080686SYNE1c.1841A>T (p.Lys614Met)
c.25307A>T (p.Lys8436Met)
c.25163A>T (p.Lys8388Met)
c.709A>T
c.1042A>T
c.951A>T
c.1079A>T (p.Lys360Met)
c.24092A>T (p.Lys8031Met)
n.2055A>T
c.4142A>T (p.Lys1381Met)
n.8999A>T
c.3245A>T (p.Lys1082Met)
n.8891A>T
n.1921A>T
n.4329A>T
n.2144A>T
c.1772A>T (p.Lys591Met)
c.25412A>T (p.Lys8471Met)
c.25400A>T (p.Lys8467Met)
c.25391A>T (p.Lys8464Met)
c.25361A>T (p.Lys8454Met)
c.25397A>T (p.Lys8466Met)
c.25343A>T (p.Lys8448Met)
c.25340A>T (p.Lys8447Met)
c.25328A>T (p.Lys8443Met)
c.25271A>T (p.Lys8424Met)
c.25259A>T (p.Lys8420Met)
c.25256A>T (p.Lys8419Met)
c.25253A>T (p.Lys8418Met)
c.25409A>T (p.Lys8470Met)
c.25247A>T (p.Lys8416Met)
c.23687A>T (p.Lys7896Met)
c.23180A>T (p.Lys7727Met)
c.18647A>T (p.Lys6216Met)
c.1913A>T (p.Lys638Met)
c.25385A>T (p.Lys8462Met)
c.25334A>T (p.Lys8445Met)
c.25187A>T (p.Lys8396Met)
6g.152140101T>CCA366080689SYNE1c.1841A>G (p.Lys614Arg)
c.25307A>G (p.Lys8436Arg)
c.25163A>G (p.Lys8388Arg)
c.709A>G
c.1042A>G
c.951A>G
c.1079A>G (p.Lys360Arg)
c.24092A>G (p.Lys8031Arg)
n.2055A>G
c.4142A>G (p.Lys1381Arg)
n.8999A>G
c.3245A>G (p.Lys1082Arg)
n.8891A>G
n.1921A>G
n.4329A>G
n.2144A>G
c.1772A>G (p.Lys591Arg)
c.25412A>G (p.Lys8471Arg)
c.25400A>G (p.Lys8467Arg)
c.25391A>G (p.Lys8464Arg)
c.25361A>G (p.Lys8454Arg)
c.25397A>G (p.Lys8466Arg)
c.25343A>G (p.Lys8448Arg)
c.25340A>G (p.Lys8447Arg)
c.25328A>G (p.Lys8443Arg)
c.25271A>G (p.Lys8424Arg)
c.25259A>G (p.Lys8420Arg)
c.25256A>G (p.Lys8419Arg)
c.25253A>G (p.Lys8418Arg)
c.25409A>G (p.Lys8470Arg)
c.25247A>G (p.Lys8416Arg)
c.23687A>G (p.Lys7896Arg)
c.23180A>G (p.Lys7727Arg)
c.18647A>G (p.Lys6216Arg)
c.1913A>G (p.Lys638Arg)
c.25385A>G (p.Lys8462Arg)
c.25334A>G (p.Lys8445Arg)
c.25187A>G (p.Lys8396Arg)
6g.152140101T>GCA366080691SYNE1c.1841A>C (p.Lys614Thr)
c.25307A>C (p.Lys8436Thr)
c.25163A>C (p.Lys8388Thr)
c.709A>C
c.1042A>C
c.951A>C
c.1079A>C (p.Lys360Thr)
c.24092A>C (p.Lys8031Thr)
n.2055A>C
c.4142A>C (p.Lys1381Thr)
n.8999A>C
c.3245A>C (p.Lys1082Thr)
n.8891A>C
n.1921A>C
n.4329A>C
n.2144A>C
c.1772A>C (p.Lys591Thr)
c.25412A>C (p.Lys8471Thr)
c.25400A>C (p.Lys8467Thr)
c.25391A>C (p.Lys8464Thr)
c.25361A>C (p.Lys8454Thr)
c.25397A>C (p.Lys8466Thr)
c.25343A>C (p.Lys8448Thr)
c.25340A>C (p.Lys8447Thr)
c.25328A>C (p.Lys8443Thr)
c.25271A>C (p.Lys8424Thr)
c.25259A>C (p.Lys8420Thr)
c.25256A>C (p.Lys8419Thr)
c.25253A>C (p.Lys8418Thr)
c.25409A>C (p.Lys8470Thr)
c.25247A>C (p.Lys8416Thr)
c.23687A>C (p.Lys7896Thr)
c.23180A>C (p.Lys7727Thr)
c.18647A>C (p.Lys6216Thr)
c.1913A>C (p.Lys638Thr)
c.25385A>C (p.Lys8462Thr)
c.25334A>C (p.Lys8445Thr)
c.25187A>C (p.Lys8396Thr)
6g.152140102T>ACA366080693SYNE1c.1840A>T (p.Lys614Ter)
c.25306A>T (p.Lys8436Ter)
c.25162A>T (p.Lys8388Ter)
c.708A>T
c.1041A>T
c.950A>T
c.1078A>T (p.Lys360Ter)
c.24091A>T (p.Lys8031Ter)
n.2054A>T
c.4141A>T (p.Lys1381Ter)
n.8998A>T
c.3244A>T (p.Lys1082Ter)
n.8890A>T
n.1920A>T
n.4328A>T
n.2143A>T
c.1771A>T (p.Lys591Ter)
c.25411A>T (p.Lys8471Ter)
c.25399A>T (p.Lys8467Ter)
c.25390A>T (p.Lys8464Ter)
c.25360A>T (p.Lys8454Ter)
c.25396A>T (p.Lys8466Ter)
c.25342A>T (p.Lys8448Ter)
c.25339A>T (p.Lys8447Ter)
c.25327A>T (p.Lys8443Ter)
c.25270A>T (p.Lys8424Ter)
c.25258A>T (p.Lys8420Ter)
c.25255A>T (p.Lys8419Ter)
c.25252A>T (p.Lys8418Ter)
c.25408A>T (p.Lys8470Ter)
c.25246A>T (p.Lys8416Ter)
c.23686A>T (p.Lys7896Ter)
c.23179A>T (p.Lys7727Ter)
c.18646A>T (p.Lys6216Ter)
c.1912A>T (p.Lys638Ter)
c.25384A>T (p.Lys8462Ter)
c.25333A>T (p.Lys8445Ter)
c.25186A>T (p.Lys8396Ter)
6g.152140102T>CCA366080696SYNE1c.1840A>G (p.Lys614Glu)
c.25306A>G (p.Lys8436Glu)
c.25162A>G (p.Lys8388Glu)
c.708A>G
c.1041A>G
c.950A>G
c.1078A>G (p.Lys360Glu)
c.24091A>G (p.Lys8031Glu)
n.2054A>G
c.4141A>G (p.Lys1381Glu)
n.8998A>G
c.3244A>G (p.Lys1082Glu)
n.8890A>G
n.1920A>G
n.4328A>G
n.2143A>G
c.1771A>G (p.Lys591Glu)
c.25411A>G (p.Lys8471Glu)
c.25399A>G (p.Lys8467Glu)
c.25390A>G (p.Lys8464Glu)
c.25360A>G (p.Lys8454Glu)
c.25396A>G (p.Lys8466Glu)
c.25342A>G (p.Lys8448Glu)
c.25339A>G (p.Lys8447Glu)
c.25327A>G (p.Lys8443Glu)
c.25270A>G (p.Lys8424Glu)
c.25258A>G (p.Lys8420Glu)
c.25255A>G (p.Lys8419Glu)
c.25252A>G (p.Lys8418Glu)
c.25408A>G (p.Lys8470Glu)
c.25246A>G (p.Lys8416Glu)
c.23686A>G (p.Lys7896Glu)
c.23179A>G (p.Lys7727Glu)
c.18646A>G (p.Lys6216Glu)
c.1912A>G (p.Lys638Glu)
c.25384A>G (p.Lys8462Glu)
c.25333A>G (p.Lys8445Glu)
c.25186A>G (p.Lys8396Glu)
6g.152140102T>GCA366080699SYNE1c.1840A>C (p.Lys614Gln)
c.25306A>C (p.Lys8436Gln)
c.25162A>C (p.Lys8388Gln)
c.708A>C
c.1041A>C
c.950A>C
c.1078A>C (p.Lys360Gln)
c.24091A>C (p.Lys8031Gln)
n.2054A>C
c.4141A>C (p.Lys1381Gln)
n.8998A>C
c.3244A>C (p.Lys1082Gln)
n.8890A>C
n.1920A>C
n.4328A>C
n.2143A>C
c.1771A>C (p.Lys591Gln)
c.25411A>C (p.Lys8471Gln)
c.25399A>C (p.Lys8467Gln)
c.25390A>C (p.Lys8464Gln)
c.25360A>C (p.Lys8454Gln)
c.25396A>C (p.Lys8466Gln)
c.25342A>C (p.Lys8448Gln)
c.25339A>C (p.Lys8447Gln)
c.25327A>C (p.Lys8443Gln)
c.25270A>C (p.Lys8424Gln)
c.25258A>C (p.Lys8420Gln)
c.25255A>C (p.Lys8419Gln)
c.25252A>C (p.Lys8418Gln)
c.25408A>C (p.Lys8470Gln)
c.25246A>C (p.Lys8416Gln)
c.23686A>C (p.Lys7896Gln)
c.23179A>C (p.Lys7727Gln)
c.18646A>C (p.Lys6216Gln)
c.1912A>C (p.Lys638Gln)
c.25384A>C (p.Lys8462Gln)
c.25333A>C (p.Lys8445Gln)
c.25186A>C (p.Lys8396Gln)
6g.152140103C>ACA10604918SYNE1c.1839G>T (p.Met613Ile)
c.25305G>T (p.Met8435Ile)
c.25161G>T (p.Met8387Ile)
c.707G>T
c.1040G>T
c.949G>T
c.1077G>T (p.Met359Ile)
c.24090G>T (p.Met8030Ile)
n.2053G>T
c.4140G>T (p.Met1380Ile)
n.8997G>T
c.3243G>T (p.Met1081Ile)
n.8889G>T
n.1919G>T
n.4327G>T
n.2142G>T
c.1770G>T (p.Met590Ile)
c.25410G>T (p.Met8470Ile)
c.25398G>T (p.Met8466Ile)
c.25389G>T (p.Met8463Ile)
c.25359G>T (p.Met8453Ile)
c.25395G>T (p.Met8465Ile)
c.25341G>T (p.Met8447Ile)
c.25338G>T (p.Met8446Ile)
c.25326G>T (p.Met8442Ile)
c.25269G>T (p.Met8423Ile)
c.25257G>T (p.Met8419Ile)
c.25254G>T (p.Met8418Ile)
c.25251G>T (p.Met8417Ile)
c.25407G>T (p.Met8469Ile)
c.25245G>T (p.Met8415Ile)
c.23685G>T (p.Met7895Ile)
c.23178G>T (p.Met7726Ile)
c.18645G>T (p.Met6215Ile)
c.1911G>T (p.Met637Ile)
c.25383G>T (p.Met8461Ile)
c.25332G>T (p.Met8444Ile)
c.25185G>T (p.Met8395Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140103C=CA1673206365SYNE1c.1839G= (p.Met613=)
c.25305G= (p.Met8435=)
c.25161G= (p.Met8387=)
c.707G=
c.1040G=
c.949G=
c.1077G= (p.Met359=)
c.24090G= (p.Met8030=)
n.2053G=
c.4140G= (p.Met1380=)
n.8997G=
c.3243G= (p.Met1081=)
n.8889G=
n.1919G=
n.4327G=
n.2142G=
c.1770G= (p.Met590=)
c.25410G= (p.Met8470=)
c.25398G= (p.Met8466=)
c.25389G= (p.Met8463=)
c.25359G= (p.Met8453=)
c.25395G= (p.Met8465=)
c.25341G= (p.Met8447=)
c.25338G= (p.Met8446=)
c.25326G= (p.Met8442=)
c.25269G= (p.Met8423=)
c.25257G= (p.Met8419=)
c.25254G= (p.Met8418=)
c.25251G= (p.Met8417=)
c.25407G= (p.Met8469=)
c.25245G= (p.Met8415=)
c.23685G= (p.Met7895=)
c.23178G= (p.Met7726=)
c.18645G= (p.Met6215=)
c.1911G= (p.Met637=)
c.25383G= (p.Met8461=)
c.25332G= (p.Met8444=)
c.25185G= (p.Met8395=)
6g.152140103C>GCA366080707SYNE1c.1839G>C (p.Met613Ile)
c.25305G>C (p.Met8435Ile)
c.25161G>C (p.Met8387Ile)
c.707G>C
c.1040G>C
c.949G>C
c.1077G>C (p.Met359Ile)
c.24090G>C (p.Met8030Ile)
n.2053G>C
c.4140G>C (p.Met1380Ile)
n.8997G>C
c.3243G>C (p.Met1081Ile)
n.8889G>C
n.1919G>C
n.4327G>C
n.2142G>C
c.1770G>C (p.Met590Ile)
c.25410G>C (p.Met8470Ile)
c.25398G>C (p.Met8466Ile)
c.25389G>C (p.Met8463Ile)
c.25359G>C (p.Met8453Ile)
c.25395G>C (p.Met8465Ile)
c.25341G>C (p.Met8447Ile)
c.25338G>C (p.Met8446Ile)
c.25326G>C (p.Met8442Ile)
c.25269G>C (p.Met8423Ile)
c.25257G>C (p.Met8419Ile)
c.25254G>C (p.Met8418Ile)
c.25251G>C (p.Met8417Ile)
c.25407G>C (p.Met8469Ile)
c.25245G>C (p.Met8415Ile)
c.23685G>C (p.Met7895Ile)
c.23178G>C (p.Met7726Ile)
c.18645G>C (p.Met6215Ile)
c.1911G>C (p.Met637Ile)
c.25383G>C (p.Met8461Ile)
c.25332G>C (p.Met8444Ile)
c.25185G>C (p.Met8395Ile)
6g.152140103C>TCA366080704SYNE1c.1839G>A (p.Met613Ile)
c.25305G>A (p.Met8435Ile)
c.25161G>A (p.Met8387Ile)
c.707G>A
c.1040G>A
c.949G>A
c.1077G>A (p.Met359Ile)
c.24090G>A (p.Met8030Ile)
n.2053G>A
c.4140G>A (p.Met1380Ile)
n.8997G>A
c.3243G>A (p.Met1081Ile)
n.8889G>A
n.1919G>A
n.4327G>A
n.2142G>A
c.1770G>A (p.Met590Ile)
c.25410G>A (p.Met8470Ile)
c.25398G>A (p.Met8466Ile)
c.25389G>A (p.Met8463Ile)
c.25359G>A (p.Met8453Ile)
c.25395G>A (p.Met8465Ile)
c.25341G>A (p.Met8447Ile)
c.25338G>A (p.Met8446Ile)
c.25326G>A (p.Met8442Ile)
c.25269G>A (p.Met8423Ile)
c.25257G>A (p.Met8419Ile)
c.25254G>A (p.Met8418Ile)
c.25251G>A (p.Met8417Ile)
c.25407G>A (p.Met8469Ile)
c.25245G>A (p.Met8415Ile)
c.23685G>A (p.Met7895Ile)
c.23178G>A (p.Met7726Ile)
c.18645G>A (p.Met6215Ile)
c.1911G>A (p.Met637Ile)
c.25383G>A (p.Met8461Ile)
c.25332G>A (p.Met8444Ile)
c.25185G>A (p.Met8395Ile)
6g.152140104A>CCA366080711SYNE1c.1838T>G (p.Met613Arg)
c.25304T>G (p.Met8435Arg)
c.25160T>G (p.Met8387Arg)
c.706T>G
c.1039T>G
c.948T>G
c.1076T>G (p.Met359Arg)
c.24089T>G (p.Met8030Arg)
n.2052T>G
c.4139T>G (p.Met1380Arg)
n.8996T>G
c.3242T>G (p.Met1081Arg)
n.8888T>G
n.1918T>G
n.4326T>G
n.2141T>G
c.1769T>G (p.Met590Arg)
c.25409T>G (p.Met8470Arg)
c.25397T>G (p.Met8466Arg)
c.25388T>G (p.Met8463Arg)
c.25358T>G (p.Met8453Arg)
c.25394T>G (p.Met8465Arg)
c.25340T>G (p.Met8447Arg)
c.25337T>G (p.Met8446Arg)
c.25325T>G (p.Met8442Arg)
c.25268T>G (p.Met8423Arg)
c.25256T>G (p.Met8419Arg)
c.25253T>G (p.Met8418Arg)
c.25250T>G (p.Met8417Arg)
c.25406T>G (p.Met8469Arg)
c.25244T>G (p.Met8415Arg)
c.23684T>G (p.Met7895Arg)
c.23177T>G (p.Met7726Arg)
c.18644T>G (p.Met6215Arg)
c.1910T>G (p.Met637Arg)
c.25382T>G (p.Met8461Arg)
c.25331T>G (p.Met8444Arg)
c.25184T>G (p.Met8395Arg)
6g.152140104A>GCA366080720SYNE1c.1838T>C (p.Met613Thr)
c.25304T>C (p.Met8435Thr)
c.25160T>C (p.Met8387Thr)
c.706T>C
c.1039T>C
c.948T>C
c.1076T>C (p.Met359Thr)
c.24089T>C (p.Met8030Thr)
n.2052T>C
c.4139T>C (p.Met1380Thr)
n.8996T>C
c.3242T>C (p.Met1081Thr)
n.8888T>C
n.1918T>C
n.4326T>C
n.2141T>C
c.1769T>C (p.Met590Thr)
c.25409T>C (p.Met8470Thr)
c.25397T>C (p.Met8466Thr)
c.25388T>C (p.Met8463Thr)
c.25358T>C (p.Met8453Thr)
c.25394T>C (p.Met8465Thr)
c.25340T>C (p.Met8447Thr)
c.25337T>C (p.Met8446Thr)
c.25325T>C (p.Met8442Thr)
c.25268T>C (p.Met8423Thr)
c.25256T>C (p.Met8419Thr)
c.25253T>C (p.Met8418Thr)
c.25250T>C (p.Met8417Thr)
c.25406T>C (p.Met8469Thr)
c.25244T>C (p.Met8415Thr)
c.23684T>C (p.Met7895Thr)
c.23177T>C (p.Met7726Thr)
c.18644T>C (p.Met6215Thr)
c.1910T>C (p.Met637Thr)
c.25382T>C (p.Met8461Thr)
c.25331T>C (p.Met8444Thr)
c.25184T>C (p.Met8395Thr)
6g.152140104A>TCA366080724SYNE1c.1838T>A (p.Met613Lys)
c.25304T>A (p.Met8435Lys)
c.25160T>A (p.Met8387Lys)
c.706T>A
c.1039T>A
c.948T>A
c.1076T>A (p.Met359Lys)
c.24089T>A (p.Met8030Lys)
n.2052T>A
c.4139T>A (p.Met1380Lys)
n.8996T>A
c.3242T>A (p.Met1081Lys)
n.8888T>A
n.1918T>A
n.4326T>A
n.2141T>A
c.1769T>A (p.Met590Lys)
c.25409T>A (p.Met8470Lys)
c.25397T>A (p.Met8466Lys)
c.25388T>A (p.Met8463Lys)
c.25358T>A (p.Met8453Lys)
c.25394T>A (p.Met8465Lys)
c.25340T>A (p.Met8447Lys)
c.25337T>A (p.Met8446Lys)
c.25325T>A (p.Met8442Lys)
c.25268T>A (p.Met8423Lys)
c.25256T>A (p.Met8419Lys)
c.25253T>A (p.Met8418Lys)
c.25250T>A (p.Met8417Lys)
c.25406T>A (p.Met8469Lys)
c.25244T>A (p.Met8415Lys)
c.23684T>A (p.Met7895Lys)
c.23177T>A (p.Met7726Lys)
c.18644T>A (p.Met6215Lys)
c.1910T>A (p.Met637Lys)
c.25382T>A (p.Met8461Lys)
c.25331T>A (p.Met8444Lys)
c.25184T>A (p.Met8395Lys)
6g.152140105T>ACA366080727SYNE1c.1837A>T (p.Met613Leu)
c.25303A>T (p.Met8435Leu)
c.25159A>T (p.Met8387Leu)
c.705A>T
c.1038A>T
c.947A>T
c.1075A>T (p.Met359Leu)
c.24088A>T (p.Met8030Leu)
n.2051A>T
c.4138A>T (p.Met1380Leu)
n.8995A>T
c.3241A>T (p.Met1081Leu)
n.8887A>T
n.1917A>T
n.4325A>T
n.2140A>T
c.1768A>T (p.Met590Leu)
c.25408A>T (p.Met8470Leu)
c.25396A>T (p.Met8466Leu)
c.25387A>T (p.Met8463Leu)
c.25357A>T (p.Met8453Leu)
c.25393A>T (p.Met8465Leu)
c.25339A>T (p.Met8447Leu)
c.25336A>T (p.Met8446Leu)
c.25324A>T (p.Met8442Leu)
c.25267A>T (p.Met8423Leu)
c.25255A>T (p.Met8419Leu)
c.25252A>T (p.Met8418Leu)
c.25249A>T (p.Met8417Leu)
c.25405A>T (p.Met8469Leu)
c.25243A>T (p.Met8415Leu)
c.23683A>T (p.Met7895Leu)
c.23176A>T (p.Met7726Leu)
c.18643A>T (p.Met6215Leu)
c.1909A>T (p.Met637Leu)
c.25381A>T (p.Met8461Leu)
c.25330A>T (p.Met8444Leu)
c.25183A>T (p.Met8395Leu)
6g.152140105T>CCA366080728SYNE1c.1837A>G (p.Met613Val)
c.25303A>G (p.Met8435Val)
c.25159A>G (p.Met8387Val)
c.705A>G
c.1038A>G
c.947A>G
c.1075A>G (p.Met359Val)
c.24088A>G (p.Met8030Val)
n.2051A>G
c.4138A>G (p.Met1380Val)
n.8995A>G
c.3241A>G (p.Met1081Val)
n.8887A>G
n.1917A>G
n.4325A>G
n.2140A>G
c.1768A>G (p.Met590Val)
c.25408A>G (p.Met8470Val)
c.25396A>G (p.Met8466Val)
c.25387A>G (p.Met8463Val)
c.25357A>G (p.Met8453Val)
c.25393A>G (p.Met8465Val)
c.25339A>G (p.Met8447Val)
c.25336A>G (p.Met8446Val)
c.25324A>G (p.Met8442Val)
c.25267A>G (p.Met8423Val)
c.25255A>G (p.Met8419Val)
c.25252A>G (p.Met8418Val)
c.25249A>G (p.Met8417Val)
c.25405A>G (p.Met8469Val)
c.25243A>G (p.Met8415Val)
c.23683A>G (p.Met7895Val)
c.23176A>G (p.Met7726Val)
c.18643A>G (p.Met6215Val)
c.1909A>G (p.Met637Val)
c.25381A>G (p.Met8461Val)
c.25330A>G (p.Met8444Val)
c.25183A>G (p.Met8395Val)
 COSMIC COSMIC
6g.152140105T>GCA366080731SYNE1c.1837A>C (p.Met613Leu)
c.25303A>C (p.Met8435Leu)
c.25159A>C (p.Met8387Leu)
c.705A>C
c.1038A>C
c.947A>C
c.1075A>C (p.Met359Leu)
c.24088A>C (p.Met8030Leu)
n.2051A>C
c.4138A>C (p.Met1380Leu)
n.8995A>C
c.3241A>C (p.Met1081Leu)
n.8887A>C
n.1917A>C
n.4325A>C
n.2140A>C
c.1768A>C (p.Met590Leu)
c.25408A>C (p.Met8470Leu)
c.25396A>C (p.Met8466Leu)
c.25387A>C (p.Met8463Leu)
c.25357A>C (p.Met8453Leu)
c.25393A>C (p.Met8465Leu)
c.25339A>C (p.Met8447Leu)
c.25336A>C (p.Met8446Leu)
c.25324A>C (p.Met8442Leu)
c.25267A>C (p.Met8423Leu)
c.25255A>C (p.Met8419Leu)
c.25252A>C (p.Met8418Leu)
c.25249A>C (p.Met8417Leu)
c.25405A>C (p.Met8469Leu)
c.25243A>C (p.Met8415Leu)
c.23683A>C (p.Met7895Leu)
c.23176A>C (p.Met7726Leu)
c.18643A>C (p.Met6215Leu)
c.1909A>C (p.Met637Leu)
c.25381A>C (p.Met8461Leu)
c.25330A>C (p.Met8444Leu)
c.25183A>C (p.Met8395Leu)

Number of alleles fetched