Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152330483G>ACA452970790SYNE1c.14202C>T (p.Asn4734=)
c.13989C>T (p.Asn4663=)
c.13392C>T (p.Asn4464=)
c.-1717C>T (n.-1717C>T)
n.1548C>T
c.14223C>T (p.Asn4741=)
c.14172C>T (p.Asn4724=)
c.14151C>T (p.Asn4717=)
c.14067C>T (p.Asn4689=)
c.14064C>T (p.Asn4688=)
c.14058C>T (p.Asn4686=)
c.12498C>T (p.Asn4166=)
c.11991C>T (p.Asn3997=)
c.7458C>T (p.Asn2486=)
c.14196C>T (p.Asn4732=)
c.14145C>T (p.Asn4715=)
n.14706C>T
6g.152330483G>CCA366098523SYNE1c.14202C>G (p.Asn4734Lys)
c.13989C>G (p.Asn4663Lys)
c.13392C>G (p.Asn4464Lys)
c.-1717C>G (n.-1717C>G)
n.1548C>G
c.14223C>G (p.Asn4741Lys)
c.14172C>G (p.Asn4724Lys)
c.14151C>G (p.Asn4717Lys)
c.14067C>G (p.Asn4689Lys)
c.14064C>G (p.Asn4688Lys)
c.14058C>G (p.Asn4686Lys)
c.12498C>G (p.Asn4166Lys)
c.11991C>G (p.Asn3997Lys)
c.7458C>G (p.Asn2486Lys)
c.14196C>G (p.Asn4732Lys)
c.14145C>G (p.Asn4715Lys)
n.14706C>G
6g.152330483G>TCA366098524SYNE1c.14202C>A (p.Asn4734Lys)
c.13989C>A (p.Asn4663Lys)
c.13392C>A (p.Asn4464Lys)
c.-1717C>A (n.-1717C>A)
n.1548C>A
c.14223C>A (p.Asn4741Lys)
c.14172C>A (p.Asn4724Lys)
c.14151C>A (p.Asn4717Lys)
c.14067C>A (p.Asn4689Lys)
c.14064C>A (p.Asn4688Lys)
c.14058C>A (p.Asn4686Lys)
c.12498C>A (p.Asn4166Lys)
c.11991C>A (p.Asn3997Lys)
c.7458C>A (p.Asn2486Lys)
c.14196C>A (p.Asn4732Lys)
c.14145C>A (p.Asn4715Lys)
n.14706C>A
6g.152330484T>ACA366098527SYNE1c.14201A>T (p.Asn4734Ile)
c.13988A>T (p.Asn4663Ile)
c.13391A>T (p.Asn4464Ile)
c.-1718A>T (n.-1718A>T)
n.1547A>T
c.14222A>T (p.Asn4741Ile)
c.14171A>T (p.Asn4724Ile)
c.14150A>T (p.Asn4717Ile)
c.14066A>T (p.Asn4689Ile)
c.14063A>T (p.Asn4688Ile)
c.14057A>T (p.Asn4686Ile)
c.12497A>T (p.Asn4166Ile)
c.11990A>T (p.Asn3997Ile)
c.7457A>T (p.Asn2486Ile)
c.14195A>T (p.Asn4732Ile)
c.14144A>T (p.Asn4715Ile)
n.14705A>T
6g.152330484T>CCA366098525SYNE1c.14201A>G (p.Asn4734Ser)
c.13988A>G (p.Asn4663Ser)
c.13391A>G (p.Asn4464Ser)
c.-1718A>G (n.-1718A>G)
n.1547A>G
c.14222A>G (p.Asn4741Ser)
c.14171A>G (p.Asn4724Ser)
c.14150A>G (p.Asn4717Ser)
c.14066A>G (p.Asn4689Ser)
c.14063A>G (p.Asn4688Ser)
c.14057A>G (p.Asn4686Ser)
c.12497A>G (p.Asn4166Ser)
c.11990A>G (p.Asn3997Ser)
c.7457A>G (p.Asn2486Ser)
c.14195A>G (p.Asn4732Ser)
c.14144A>G (p.Asn4715Ser)
n.14705A>G
6g.152330484T>GCA366098526SYNE1c.14201A>C (p.Asn4734Thr)
c.13988A>C (p.Asn4663Thr)
c.13391A>C (p.Asn4464Thr)
c.-1718A>C (n.-1718A>C)
n.1547A>C
c.14222A>C (p.Asn4741Thr)
c.14171A>C (p.Asn4724Thr)
c.14150A>C (p.Asn4717Thr)
c.14066A>C (p.Asn4689Thr)
c.14063A>C (p.Asn4688Thr)
c.14057A>C (p.Asn4686Thr)
c.12497A>C (p.Asn4166Thr)
c.11990A>C (p.Asn3997Thr)
c.7457A>C (p.Asn2486Thr)
c.14195A>C (p.Asn4732Thr)
c.14144A>C (p.Asn4715Thr)
n.14705A>C
6g.152330485T>ACA366098528SYNE1c.14200A>T (p.Asn4734Tyr)
c.13987A>T (p.Asn4663Tyr)
c.13390A>T (p.Asn4464Tyr)
c.-1719A>T (n.-1719A>T)
n.1546A>T
c.14221A>T (p.Asn4741Tyr)
c.14170A>T (p.Asn4724Tyr)
c.14149A>T (p.Asn4717Tyr)
c.14065A>T (p.Asn4689Tyr)
c.14062A>T (p.Asn4688Tyr)
c.14056A>T (p.Asn4686Tyr)
c.12496A>T (p.Asn4166Tyr)
c.11989A>T (p.Asn3997Tyr)
c.7456A>T (p.Asn2486Tyr)
c.14194A>T (p.Asn4732Tyr)
c.14143A>T (p.Asn4715Tyr)
n.14704A>T
6g.152330485T>CCA366098529SYNE1c.14200A>G (p.Asn4734Asp)
c.13987A>G (p.Asn4663Asp)
c.13390A>G (p.Asn4464Asp)
c.-1719A>G (n.-1719A>G)
n.1546A>G
c.14221A>G (p.Asn4741Asp)
c.14170A>G (p.Asn4724Asp)
c.14149A>G (p.Asn4717Asp)
c.14065A>G (p.Asn4689Asp)
c.14062A>G (p.Asn4688Asp)
c.14056A>G (p.Asn4686Asp)
c.12496A>G (p.Asn4166Asp)
c.11989A>G (p.Asn3997Asp)
c.7456A>G (p.Asn2486Asp)
c.14194A>G (p.Asn4732Asp)
c.14143A>G (p.Asn4715Asp)
n.14704A>G
6g.152330485T>GCA366098530SYNE1c.14200A>C (p.Asn4734His)
c.13987A>C (p.Asn4663His)
c.13390A>C (p.Asn4464His)
c.-1719A>C (n.-1719A>C)
n.1546A>C
c.14221A>C (p.Asn4741His)
c.14170A>C (p.Asn4724His)
c.14149A>C (p.Asn4717His)
c.14065A>C (p.Asn4689His)
c.14062A>C (p.Asn4688His)
c.14056A>C (p.Asn4686His)
c.12496A>C (p.Asn4166His)
c.11989A>C (p.Asn3997His)
c.7456A>C (p.Asn2486His)
c.14194A>C (p.Asn4732His)
c.14143A>C (p.Asn4715His)
n.14704A>C
6g.152330486C>ACA452970792SYNE1c.14199G>T (p.Leu4733=)
c.13986G>T (p.Leu4662=)
c.13389G>T (p.Leu4463=)
c.-1720G>T (n.-1720G>T)
n.1545G>T
c.14220G>T (p.Leu4740=)
c.14169G>T (p.Leu4723=)
c.14148G>T (p.Leu4716=)
c.14064G>T (p.Leu4688=)
c.14061G>T (p.Leu4687=)
c.14055G>T (p.Leu4685=)
c.12495G>T (p.Leu4165=)
c.11988G>T (p.Leu3996=)
c.7455G>T (p.Leu2485=)
c.14193G>T (p.Leu4731=)
c.14142G>T (p.Leu4714=)
n.14703G>T
6g.152330486C>GCA452970794SYNE1c.14199G>C (p.Leu4733=)
c.13986G>C (p.Leu4662=)
c.13389G>C (p.Leu4463=)
c.-1720G>C (n.-1720G>C)
n.1545G>C
c.14220G>C (p.Leu4740=)
c.14169G>C (p.Leu4723=)
c.14148G>C (p.Leu4716=)
c.14064G>C (p.Leu4688=)
c.14061G>C (p.Leu4687=)
c.14055G>C (p.Leu4685=)
c.12495G>C (p.Leu4165=)
c.11988G>C (p.Leu3996=)
c.7455G>C (p.Leu2485=)
c.14193G>C (p.Leu4731=)
c.14142G>C (p.Leu4714=)
n.14703G>C
6g.152330486C>TCA452970795SYNE1c.14199G>A (p.Leu4733=)
c.13986G>A (p.Leu4662=)
c.13389G>A (p.Leu4463=)
c.-1720G>A (n.-1720G>A)
n.1545G>A
c.14220G>A (p.Leu4740=)
c.14169G>A (p.Leu4723=)
c.14148G>A (p.Leu4716=)
c.14064G>A (p.Leu4688=)
c.14061G>A (p.Leu4687=)
c.14055G>A (p.Leu4685=)
c.12495G>A (p.Leu4165=)
c.11988G>A (p.Leu3996=)
c.7455G>A (p.Leu2485=)
c.14193G>A (p.Leu4731=)
c.14142G>A (p.Leu4714=)
n.14703G>A
6g.152330487A=CA1673273833SYNE1c.14198T= (p.Leu4733=)
c.13985T= (p.Leu4662=)
c.13388T= (p.Leu4463=)
c.-1721T= (n.-1721T=)
n.1544T=
c.14219T= (p.Leu4740=)
c.14168T= (p.Leu4723=)
c.14147T= (p.Leu4716=)
c.14063T= (p.Leu4688=)
c.14060T= (p.Leu4687=)
c.14054T= (p.Leu4685=)
c.12494T= (p.Leu4165=)
c.11987T= (p.Leu3996=)
c.7454T= (p.Leu2485=)
c.14192T= (p.Leu4731=)
c.14141T= (p.Leu4714=)
n.14702T=
6g.152330487A>CCA366098531SYNE1c.14198T>G (p.Leu4733Arg)
c.13985T>G (p.Leu4662Arg)
c.13388T>G (p.Leu4463Arg)
c.-1721T>G (n.-1721T>G)
n.1544T>G
c.14219T>G (p.Leu4740Arg)
c.14168T>G (p.Leu4723Arg)
c.14147T>G (p.Leu4716Arg)
c.14063T>G (p.Leu4688Arg)
c.14060T>G (p.Leu4687Arg)
c.14054T>G (p.Leu4685Arg)
c.12494T>G (p.Leu4165Arg)
c.11987T>G (p.Leu3996Arg)
c.7454T>G (p.Leu2485Arg)
c.14192T>G (p.Leu4731Arg)
c.14141T>G (p.Leu4714Arg)
n.14702T>G
6g.152330487A>GCA366098532SYNE1c.14198T>C (p.Leu4733Pro)
c.13985T>C (p.Leu4662Pro)
c.13388T>C (p.Leu4463Pro)
c.-1721T>C (n.-1721T>C)
n.1544T>C
c.14219T>C (p.Leu4740Pro)
c.14168T>C (p.Leu4723Pro)
c.14147T>C (p.Leu4716Pro)
c.14063T>C (p.Leu4688Pro)
c.14060T>C (p.Leu4687Pro)
c.14054T>C (p.Leu4685Pro)
c.12494T>C (p.Leu4165Pro)
c.11987T>C (p.Leu3996Pro)
c.7454T>C (p.Leu2485Pro)
c.14192T>C (p.Leu4731Pro)
c.14141T>C (p.Leu4714Pro)
n.14702T>C
6g.152330487A>TCA366098533SYNE1c.14198T>A (p.Leu4733Gln)
c.13985T>A (p.Leu4662Gln)
c.13388T>A (p.Leu4463Gln)
c.-1721T>A (n.-1721T>A)
n.1544T>A
c.14219T>A (p.Leu4740Gln)
c.14168T>A (p.Leu4723Gln)
c.14147T>A (p.Leu4716Gln)
c.14063T>A (p.Leu4688Gln)
c.14060T>A (p.Leu4687Gln)
c.14054T>A (p.Leu4685Gln)
c.12494T>A (p.Leu4165Gln)
c.11987T>A (p.Leu3996Gln)
c.7454T>A (p.Leu2485Gln)
c.14192T>A (p.Leu4731Gln)
c.14141T>A (p.Leu4714Gln)
n.14702T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152330488G>ACA452970796SYNE1c.14197C>T (p.Leu4733=)
c.13984C>T (p.Leu4662=)
c.13387C>T (p.Leu4463=)
c.-1722C>T (n.-1722C>T)
n.1543C>T
c.14218C>T (p.Leu4740=)
c.14167C>T (p.Leu4723=)
c.14146C>T (p.Leu4716=)
c.14062C>T (p.Leu4688=)
c.14059C>T (p.Leu4687=)
c.14053C>T (p.Leu4685=)
c.12493C>T (p.Leu4165=)
c.11986C>T (p.Leu3996=)
c.7453C>T (p.Leu2485=)
c.14191C>T (p.Leu4731=)
c.14140C>T (p.Leu4714=)
n.14701C>T
 dbSNP
6g.152330488G>CCA366098534SYNE1c.14197C>G (p.Leu4733Val)
c.13984C>G (p.Leu4662Val)
c.13387C>G (p.Leu4463Val)
c.-1722C>G (n.-1722C>G)
n.1543C>G
c.14218C>G (p.Leu4740Val)
c.14167C>G (p.Leu4723Val)
c.14146C>G (p.Leu4716Val)
c.14062C>G (p.Leu4688Val)
c.14059C>G (p.Leu4687Val)
c.14053C>G (p.Leu4685Val)
c.12493C>G (p.Leu4165Val)
c.11986C>G (p.Leu3996Val)
c.7453C>G (p.Leu2485Val)
c.14191C>G (p.Leu4731Val)
c.14140C>G (p.Leu4714Val)
n.14701C>G
6g.152330488G=CA1673273837SYNE1c.14197C= (p.Leu4733=)
c.13984C= (p.Leu4662=)
c.13387C= (p.Leu4463=)
c.-1722C= (n.-1722C=)
n.1543C=
c.14218C= (p.Leu4740=)
c.14167C= (p.Leu4723=)
c.14146C= (p.Leu4716=)
c.14062C= (p.Leu4688=)
c.14059C= (p.Leu4687=)
c.14053C= (p.Leu4685=)
c.12493C= (p.Leu4165=)
c.11986C= (p.Leu3996=)
c.7453C= (p.Leu2485=)
c.14191C= (p.Leu4731=)
c.14140C= (p.Leu4714=)
n.14701C=
6g.152330488G>TCA366098535SYNE1c.14197C>A (p.Leu4733Met)
c.13984C>A (p.Leu4662Met)
c.13387C>A (p.Leu4463Met)
c.-1722C>A (n.-1722C>A)
n.1543C>A
c.14218C>A (p.Leu4740Met)
c.14167C>A (p.Leu4723Met)
c.14146C>A (p.Leu4716Met)
c.14062C>A (p.Leu4688Met)
c.14059C>A (p.Leu4687Met)
c.14053C>A (p.Leu4685Met)
c.12493C>A (p.Leu4165Met)
c.11986C>A (p.Leu3996Met)
c.7453C>A (p.Leu2485Met)
c.14191C>A (p.Leu4731Met)
c.14140C>A (p.Leu4714Met)
n.14701C>A
6g.152330489T>ACA366098536SYNE1c.14196A>T (p.Glu4732Asp)
c.13983A>T (p.Glu4661Asp)
c.13386A>T (p.Glu4462Asp)
c.-1723A>T (n.-1723A>T)
n.1542A>T
c.14217A>T (p.Glu4739Asp)
c.14166A>T (p.Glu4722Asp)
c.14145A>T (p.Glu4715Asp)
c.14061A>T (p.Glu4687Asp)
c.14058A>T (p.Glu4686Asp)
c.14052A>T (p.Glu4684Asp)
c.12492A>T (p.Glu4164Asp)
c.11985A>T (p.Glu3995Asp)
c.7452A>T (p.Glu2484Asp)
c.14190A>T (p.Glu4730Asp)
c.14139A>T (p.Glu4713Asp)
n.14700A>T
6g.152330489T>CCA452970797SYNE1c.14196A>G (p.Glu4732=)
c.13983A>G (p.Glu4661=)
c.13386A>G (p.Glu4462=)
c.-1723A>G (n.-1723A>G)
n.1542A>G
c.14217A>G (p.Glu4739=)
c.14166A>G (p.Glu4722=)
c.14145A>G (p.Glu4715=)
c.14061A>G (p.Glu4687=)
c.14058A>G (p.Glu4686=)
c.14052A>G (p.Glu4684=)
c.12492A>G (p.Glu4164=)
c.11985A>G (p.Glu3995=)
c.7452A>G (p.Glu2484=)
c.14190A>G (p.Glu4730=)
c.14139A>G (p.Glu4713=)
n.14700A>G
6g.152330489T>GCA366098537SYNE1c.14196A>C (p.Glu4732Asp)
c.13983A>C (p.Glu4661Asp)
c.13386A>C (p.Glu4462Asp)
c.-1723A>C (n.-1723A>C)
n.1542A>C
c.14217A>C (p.Glu4739Asp)
c.14166A>C (p.Glu4722Asp)
c.14145A>C (p.Glu4715Asp)
c.14061A>C (p.Glu4687Asp)
c.14058A>C (p.Glu4686Asp)
c.14052A>C (p.Glu4684Asp)
c.12492A>C (p.Glu4164Asp)
c.11985A>C (p.Glu3995Asp)
c.7452A>C (p.Glu2484Asp)
c.14190A>C (p.Glu4730Asp)
c.14139A>C (p.Glu4713Asp)
n.14700A>C
6g.152330490T>ACA366098540SYNE1c.14195A>T (p.Glu4732Val)
c.13982A>T (p.Glu4661Val)
c.13385A>T (p.Glu4462Val)
c.-1724A>T (n.-1724A>T)
n.1541A>T
c.14216A>T (p.Glu4739Val)
c.14165A>T (p.Glu4722Val)
c.14144A>T (p.Glu4715Val)
c.14060A>T (p.Glu4687Val)
c.14057A>T (p.Glu4686Val)
c.14051A>T (p.Glu4684Val)
c.12491A>T (p.Glu4164Val)
c.11984A>T (p.Glu3995Val)
c.7451A>T (p.Glu2484Val)
c.14189A>T (p.Glu4730Val)
c.14138A>T (p.Glu4713Val)
n.14699A>T
6g.152330490T>CCA366098539SYNE1c.14195A>G (p.Glu4732Gly)
c.13982A>G (p.Glu4661Gly)
c.13385A>G (p.Glu4462Gly)
c.-1724A>G (n.-1724A>G)
n.1541A>G
c.14216A>G (p.Glu4739Gly)
c.14165A>G (p.Glu4722Gly)
c.14144A>G (p.Glu4715Gly)
c.14060A>G (p.Glu4687Gly)
c.14057A>G (p.Glu4686Gly)
c.14051A>G (p.Glu4684Gly)
c.12491A>G (p.Glu4164Gly)
c.11984A>G (p.Glu3995Gly)
c.7451A>G (p.Glu2484Gly)
c.14189A>G (p.Glu4730Gly)
c.14138A>G (p.Glu4713Gly)
n.14699A>G
6g.152330490T>GCA366098538SYNE1c.14195A>C (p.Glu4732Ala)
c.13982A>C (p.Glu4661Ala)
c.13385A>C (p.Glu4462Ala)
c.-1724A>C (n.-1724A>C)
n.1541A>C
c.14216A>C (p.Glu4739Ala)
c.14165A>C (p.Glu4722Ala)
c.14144A>C (p.Glu4715Ala)
c.14060A>C (p.Glu4687Ala)
c.14057A>C (p.Glu4686Ala)
c.14051A>C (p.Glu4684Ala)
c.12491A>C (p.Glu4164Ala)
c.11984A>C (p.Glu3995Ala)
c.7451A>C (p.Glu2484Ala)
c.14189A>C (p.Glu4730Ala)
c.14138A>C (p.Glu4713Ala)
n.14699A>C
6g.152330491C>ACA366098541SYNE1c.14194G>T (p.Glu4732Ter)
c.13981G>T (p.Glu4661Ter)
c.13384G>T (p.Glu4462Ter)
c.-1725G>T (n.-1725G>T)
n.1540G>T
c.14215G>T (p.Glu4739Ter)
c.14164G>T (p.Glu4722Ter)
c.14143G>T (p.Glu4715Ter)
c.14059G>T (p.Glu4687Ter)
c.14056G>T (p.Glu4686Ter)
c.14050G>T (p.Glu4684Ter)
c.12490G>T (p.Glu4164Ter)
c.11983G>T (p.Glu3995Ter)
c.7450G>T (p.Glu2484Ter)
c.14188G>T (p.Glu4730Ter)
c.14137G>T (p.Glu4713Ter)
n.14698G>T
6g.152330491C>GCA366098542SYNE1c.14194G>C (p.Glu4732Gln)
c.13981G>C (p.Glu4661Gln)
c.13384G>C (p.Glu4462Gln)
c.-1725G>C (n.-1725G>C)
n.1540G>C
c.14215G>C (p.Glu4739Gln)
c.14164G>C (p.Glu4722Gln)
c.14143G>C (p.Glu4715Gln)
c.14059G>C (p.Glu4687Gln)
c.14056G>C (p.Glu4686Gln)
c.14050G>C (p.Glu4684Gln)
c.12490G>C (p.Glu4164Gln)
c.11983G>C (p.Glu3995Gln)
c.7450G>C (p.Glu2484Gln)
c.14188G>C (p.Glu4730Gln)
c.14137G>C (p.Glu4713Gln)
n.14698G>C
6g.152330491C>TCA366098543SYNE1c.14194G>A (p.Glu4732Lys)
c.13981G>A (p.Glu4661Lys)
c.13384G>A (p.Glu4462Lys)
c.-1725G>A (n.-1725G>A)
n.1540G>A
c.14215G>A (p.Glu4739Lys)
c.14164G>A (p.Glu4722Lys)
c.14143G>A (p.Glu4715Lys)
c.14059G>A (p.Glu4687Lys)
c.14056G>A (p.Glu4686Lys)
c.14050G>A (p.Glu4684Lys)
c.12490G>A (p.Glu4164Lys)
c.11983G>A (p.Glu3995Lys)
c.7450G>A (p.Glu2484Lys)
c.14188G>A (p.Glu4730Lys)
c.14137G>A (p.Glu4713Lys)
n.14698G>A
6g.152330492A>CCA366098544SYNE1c.14193T>G (p.Asp4731Glu)
c.13980T>G (p.Asp4660Glu)
c.13383T>G (p.Asp4461Glu)
c.-1726T>G (n.-1726T>G)
n.1539T>G
c.14214T>G (p.Asp4738Glu)
c.14163T>G (p.Asp4721Glu)
c.14142T>G (p.Asp4714Glu)
c.14058T>G (p.Asp4686Glu)
c.14055T>G (p.Asp4685Glu)
c.14049T>G (p.Asp4683Glu)
c.12489T>G (p.Asp4163Glu)
c.11982T>G (p.Asp3994Glu)
c.7449T>G (p.Asp2483Glu)
c.14187T>G (p.Asp4729Glu)
c.14136T>G (p.Asp4712Glu)
n.14697T>G
6g.152330492A>GCA452970800SYNE1c.14193T>C (p.Asp4731=)
c.13980T>C (p.Asp4660=)
c.13383T>C (p.Asp4461=)
c.-1726T>C (n.-1726T>C)
n.1539T>C
c.14214T>C (p.Asp4738=)
c.14163T>C (p.Asp4721=)
c.14142T>C (p.Asp4714=)
c.14058T>C (p.Asp4686=)
c.14055T>C (p.Asp4685=)
c.14049T>C (p.Asp4683=)
c.12489T>C (p.Asp4163=)
c.11982T>C (p.Asp3994=)
c.7449T>C (p.Asp2483=)
c.14187T>C (p.Asp4729=)
c.14136T>C (p.Asp4712=)
n.14697T>C
6g.152330492A>TCA366098545SYNE1c.14193T>A (p.Asp4731Glu)
c.13980T>A (p.Asp4660Glu)
c.13383T>A (p.Asp4461Glu)
c.-1726T>A (n.-1726T>A)
n.1539T>A
c.14214T>A (p.Asp4738Glu)
c.14163T>A (p.Asp4721Glu)
c.14142T>A (p.Asp4714Glu)
c.14058T>A (p.Asp4686Glu)
c.14055T>A (p.Asp4685Glu)
c.14049T>A (p.Asp4683Glu)
c.12489T>A (p.Asp4163Glu)
c.11982T>A (p.Asp3994Glu)
c.7449T>A (p.Asp2483Glu)
c.14187T>A (p.Asp4729Glu)
c.14136T>A (p.Asp4712Glu)
n.14697T>A
6g.152330493T>ACA366098546SYNE1c.14192A>T (p.Asp4731Val)
c.13979A>T (p.Asp4660Val)
c.13382A>T (p.Asp4461Val)
c.-1727A>T (n.-1727A>T)
n.1538A>T
c.14213A>T (p.Asp4738Val)
c.14162A>T (p.Asp4721Val)
c.14141A>T (p.Asp4714Val)
c.14057A>T (p.Asp4686Val)
c.14054A>T (p.Asp4685Val)
c.14048A>T (p.Asp4683Val)
c.12488A>T (p.Asp4163Val)
c.11981A>T (p.Asp3994Val)
c.7448A>T (p.Asp2483Val)
c.14186A>T (p.Asp4729Val)
c.14135A>T (p.Asp4712Val)
n.14696A>T
6g.152330493T>CCA150176547SYNE1c.14192A>G (p.Asp4731Gly)
c.13979A>G (p.Asp4660Gly)
c.13382A>G (p.Asp4461Gly)
c.-1727A>G (n.-1727A>G)
n.1538A>G
c.14213A>G (p.Asp4738Gly)
c.14162A>G (p.Asp4721Gly)
c.14141A>G (p.Asp4714Gly)
c.14057A>G (p.Asp4686Gly)
c.14054A>G (p.Asp4685Gly)
c.14048A>G (p.Asp4683Gly)
c.12488A>G (p.Asp4163Gly)
c.11981A>G (p.Asp3994Gly)
c.7448A>G (p.Asp2483Gly)
c.14186A>G (p.Asp4729Gly)
c.14135A>G (p.Asp4712Gly)
n.14696A>G
 dbSNP
6g.152330493T>GCA4056051SYNE1c.14192A>C (p.Asp4731Ala)
c.13979A>C (p.Asp4660Ala)
c.13382A>C (p.Asp4461Ala)
c.-1727A>C (n.-1727A>C)
n.1538A>C
c.14213A>C (p.Asp4738Ala)
c.14162A>C (p.Asp4721Ala)
c.14141A>C (p.Asp4714Ala)
c.14057A>C (p.Asp4686Ala)
c.14054A>C (p.Asp4685Ala)
c.14048A>C (p.Asp4683Ala)
c.12488A>C (p.Asp4163Ala)
c.11981A>C (p.Asp3994Ala)
c.7448A>C (p.Asp2483Ala)
c.14186A>C (p.Asp4729Ala)
c.14135A>C (p.Asp4712Ala)
n.14696A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152330493T=CA1673273843SYNE1c.14192A= (p.Asp4731=)
c.13979A= (p.Asp4660=)
c.13382A= (p.Asp4461=)
c.-1727A= (n.-1727A=)
n.1538A=
c.14213A= (p.Asp4738=)
c.14162A= (p.Asp4721=)
c.14141A= (p.Asp4714=)
c.14057A= (p.Asp4686=)
c.14054A= (p.Asp4685=)
c.14048A= (p.Asp4683=)
c.12488A= (p.Asp4163=)
c.11981A= (p.Asp3994=)
c.7448A= (p.Asp2483=)
c.14186A= (p.Asp4729=)
c.14135A= (p.Asp4712=)
n.14696A=
6g.152330494C>ACA366098547SYNE1c.14191G>T (p.Asp4731Tyr)
c.13978G>T (p.Asp4660Tyr)
c.13381G>T (p.Asp4461Tyr)
c.-1728G>T (n.-1728G>T)
n.1537G>T
c.14212G>T (p.Asp4738Tyr)
c.14161G>T (p.Asp4721Tyr)
c.14140G>T (p.Asp4714Tyr)
c.14056G>T (p.Asp4686Tyr)
c.14053G>T (p.Asp4685Tyr)
c.14047G>T (p.Asp4683Tyr)
c.12487G>T (p.Asp4163Tyr)
c.11980G>T (p.Asp3994Tyr)
c.7447G>T (p.Asp2483Tyr)
c.14185G>T (p.Asp4729Tyr)
c.14134G>T (p.Asp4712Tyr)
n.14695G>T
6g.152330494C>GCA366098548SYNE1c.14191G>C (p.Asp4731His)
c.13978G>C (p.Asp4660His)
c.13381G>C (p.Asp4461His)
c.-1728G>C (n.-1728G>C)
n.1537G>C
c.14212G>C (p.Asp4738His)
c.14161G>C (p.Asp4721His)
c.14140G>C (p.Asp4714His)
c.14056G>C (p.Asp4686His)
c.14053G>C (p.Asp4685His)
c.14047G>C (p.Asp4683His)
c.12487G>C (p.Asp4163His)
c.11980G>C (p.Asp3994His)
c.7447G>C (p.Asp2483His)
c.14185G>C (p.Asp4729His)
c.14134G>C (p.Asp4712His)
n.14695G>C
6g.152330494C>TCA366098549SYNE1c.14191G>A (p.Asp4731Asn)
c.13978G>A (p.Asp4660Asn)
c.13381G>A (p.Asp4461Asn)
c.-1728G>A (n.-1728G>A)
n.1537G>A
c.14212G>A (p.Asp4738Asn)
c.14161G>A (p.Asp4721Asn)
c.14140G>A (p.Asp4714Asn)
c.14056G>A (p.Asp4686Asn)
c.14053G>A (p.Asp4685Asn)
c.14047G>A (p.Asp4683Asn)
c.12487G>A (p.Asp4163Asn)
c.11980G>A (p.Asp3994Asn)
c.7447G>A (p.Asp2483Asn)
c.14185G>A (p.Asp4729Asn)
c.14134G>A (p.Asp4712Asn)
n.14695G>A
6g.152330495C>ACA452970805SYNE1c.14190G>T (p.Val4730=)
c.13977G>T (p.Val4659=)
c.13380G>T (p.Val4460=)
c.-1729G>T (n.-1729G>T)
n.1536G>T
c.14211G>T (p.Val4737=)
c.14160G>T (p.Val4720=)
c.14139G>T (p.Val4713=)
c.14055G>T (p.Val4685=)
c.14052G>T (p.Val4684=)
c.14046G>T (p.Val4682=)
c.12486G>T (p.Val4162=)
c.11979G>T (p.Val3993=)
c.7446G>T (p.Val2482=)
c.14184G>T (p.Val4728=)
c.14133G>T (p.Val4711=)
n.14694G>T
6g.152330495C=CA1673273848SYNE1c.14190G= (p.Val4730=)
c.13977G= (p.Val4659=)
c.13380G= (p.Val4460=)
c.-1729G= (n.-1729G=)
n.1536G=
c.14211G= (p.Val4737=)
c.14160G= (p.Val4720=)
c.14139G= (p.Val4713=)
c.14055G= (p.Val4685=)
c.14052G= (p.Val4684=)
c.14046G= (p.Val4682=)
c.12486G= (p.Val4162=)
c.11979G= (p.Val3993=)
c.7446G= (p.Val2482=)
c.14184G= (p.Val4728=)
c.14133G= (p.Val4711=)
n.14694G=
6g.152330495C>GCA452970806SYNE1c.14190G>C (p.Val4730=)
c.13977G>C (p.Val4659=)
c.13380G>C (p.Val4460=)
c.-1729G>C (n.-1729G>C)
n.1536G>C
c.14211G>C (p.Val4737=)
c.14160G>C (p.Val4720=)
c.14139G>C (p.Val4713=)
c.14055G>C (p.Val4685=)
c.14052G>C (p.Val4684=)
c.14046G>C (p.Val4682=)
c.12486G>C (p.Val4162=)
c.11979G>C (p.Val3993=)
c.7446G>C (p.Val2482=)
c.14184G>C (p.Val4728=)
c.14133G>C (p.Val4711=)
n.14694G>C
6g.152330495C>TCA452970807SYNE1c.14190G>A (p.Val4730=)
c.13977G>A (p.Val4659=)
c.13380G>A (p.Val4460=)
c.-1729G>A (n.-1729G>A)
n.1536G>A
c.14211G>A (p.Val4737=)
c.14160G>A (p.Val4720=)
c.14139G>A (p.Val4713=)
c.14055G>A (p.Val4685=)
c.14052G>A (p.Val4684=)
c.14046G>A (p.Val4682=)
c.12486G>A (p.Val4162=)
c.11979G>A (p.Val3993=)
c.7446G>A (p.Val2482=)
c.14184G>A (p.Val4728=)
c.14133G>A (p.Val4711=)
n.14694G>A
 dbSNP
6g.152330496A=CA1673273854SYNE1c.14189T= (p.Val4730=)
c.13976T= (p.Val4659=)
c.13379T= (p.Val4460=)
c.-1730T= (n.-1730T=)
n.1535T=
c.14210T= (p.Val4737=)
c.14159T= (p.Val4720=)
c.14138T= (p.Val4713=)
c.14054T= (p.Val4685=)
c.14051T= (p.Val4684=)
c.14045T= (p.Val4682=)
c.12485T= (p.Val4162=)
c.11978T= (p.Val3993=)
c.7445T= (p.Val2482=)
c.14183T= (p.Val4728=)
c.14132T= (p.Val4711=)
n.14693T=
6g.152330496A>CCA366098551SYNE1c.14189T>G (p.Val4730Gly)
c.13976T>G (p.Val4659Gly)
c.13379T>G (p.Val4460Gly)
c.-1730T>G (n.-1730T>G)
n.1535T>G
c.14210T>G (p.Val4737Gly)
c.14159T>G (p.Val4720Gly)
c.14138T>G (p.Val4713Gly)
c.14054T>G (p.Val4685Gly)
c.14051T>G (p.Val4684Gly)
c.14045T>G (p.Val4682Gly)
c.12485T>G (p.Val4162Gly)
c.11978T>G (p.Val3993Gly)
c.7445T>G (p.Val2482Gly)
c.14183T>G (p.Val4728Gly)
c.14132T>G (p.Val4711Gly)
n.14693T>G
 dbSNP
6g.152330496A>GCA366098550SYNE1c.14189T>C (p.Val4730Ala)
c.13976T>C (p.Val4659Ala)
c.13379T>C (p.Val4460Ala)
c.-1730T>C (n.-1730T>C)
n.1535T>C
c.14210T>C (p.Val4737Ala)
c.14159T>C (p.Val4720Ala)
c.14138T>C (p.Val4713Ala)
c.14054T>C (p.Val4685Ala)
c.14051T>C (p.Val4684Ala)
c.14045T>C (p.Val4682Ala)
c.12485T>C (p.Val4162Ala)
c.11978T>C (p.Val3993Ala)
c.7445T>C (p.Val2482Ala)
c.14183T>C (p.Val4728Ala)
c.14132T>C (p.Val4711Ala)
n.14693T>C
 gnomAD v4
6g.152330496A>TCA4056052SYNE1c.14189T>A (p.Val4730Glu)
c.13976T>A (p.Val4659Glu)
c.13379T>A (p.Val4460Glu)
c.-1730T>A (n.-1730T>A)
n.1535T>A
c.14210T>A (p.Val4737Glu)
c.14159T>A (p.Val4720Glu)
c.14138T>A (p.Val4713Glu)
c.14054T>A (p.Val4685Glu)
c.14051T>A (p.Val4684Glu)
c.14045T>A (p.Val4682Glu)
c.12485T>A (p.Val4162Glu)
c.11978T>A (p.Val3993Glu)
c.7445T>A (p.Val2482Glu)
c.14183T>A (p.Val4728Glu)
c.14132T>A (p.Val4711Glu)
n.14693T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330497C>ACA366098552SYNE1c.14188G>T (p.Val4730Leu)
c.13975G>T (p.Val4659Leu)
c.13378G>T (p.Val4460Leu)
c.-1731G>T (n.-1731G>T)
n.1534G>T
c.14209G>T (p.Val4737Leu)
c.14158G>T (p.Val4720Leu)
c.14137G>T (p.Val4713Leu)
c.14053G>T (p.Val4685Leu)
c.14050G>T (p.Val4684Leu)
c.14044G>T (p.Val4682Leu)
c.12484G>T (p.Val4162Leu)
c.11977G>T (p.Val3993Leu)
c.7444G>T (p.Val2482Leu)
c.14182G>T (p.Val4728Leu)
c.14131G>T (p.Val4711Leu)
n.14692G>T
6g.152330497C>GCA366098553SYNE1c.14188G>C (p.Val4730Leu)
c.13975G>C (p.Val4659Leu)
c.13378G>C (p.Val4460Leu)
c.-1731G>C (n.-1731G>C)
n.1534G>C
c.14209G>C (p.Val4737Leu)
c.14158G>C (p.Val4720Leu)
c.14137G>C (p.Val4713Leu)
c.14053G>C (p.Val4685Leu)
c.14050G>C (p.Val4684Leu)
c.14044G>C (p.Val4682Leu)
c.12484G>C (p.Val4162Leu)
c.11977G>C (p.Val3993Leu)
c.7444G>C (p.Val2482Leu)
c.14182G>C (p.Val4728Leu)
c.14131G>C (p.Val4711Leu)
n.14692G>C
6g.152330497C>TCA366098554SYNE1c.14188G>A (p.Val4730Met)
c.13975G>A (p.Val4659Met)
c.13378G>A (p.Val4460Met)
c.-1731G>A (n.-1731G>A)
n.1534G>A
c.14209G>A (p.Val4737Met)
c.14158G>A (p.Val4720Met)
c.14137G>A (p.Val4713Met)
c.14053G>A (p.Val4685Met)
c.14050G>A (p.Val4684Met)
c.14044G>A (p.Val4682Met)
c.12484G>A (p.Val4162Met)
c.11977G>A (p.Val3993Met)
c.7444G>A (p.Val2482Met)
c.14182G>A (p.Val4728Met)
c.14131G>A (p.Val4711Met)
n.14692G>A
6g.152330498C>ACA452970809SYNE1c.14187G>T (p.Ala4729=)
c.13974G>T (p.Ala4658=)
c.13377G>T (p.Ala4459=)
c.-1732G>T (n.-1732G>T)
n.1533G>T
c.14208G>T (p.Ala4736=)
c.14157G>T (p.Ala4719=)
c.14136G>T (p.Ala4712=)
c.14052G>T (p.Ala4684=)
c.14049G>T (p.Ala4683=)
c.14043G>T (p.Ala4681=)
c.12483G>T (p.Ala4161=)
c.11976G>T (p.Ala3992=)
c.7443G>T (p.Ala2481=)
c.14181G>T (p.Ala4727=)
c.14130G>T (p.Ala4710=)
n.14691G>T
6g.152330498C=CA1673273858SYNE1c.14187G= (p.Ala4729=)
c.13974G= (p.Ala4658=)
c.13377G= (p.Ala4459=)
c.-1732G= (n.-1732G=)
n.1533G=
c.14208G= (p.Ala4736=)
c.14157G= (p.Ala4719=)
c.14136G= (p.Ala4712=)
c.14052G= (p.Ala4684=)
c.14049G= (p.Ala4683=)
c.14043G= (p.Ala4681=)
c.12483G= (p.Ala4161=)
c.11976G= (p.Ala3992=)
c.7443G= (p.Ala2481=)
c.14181G= (p.Ala4727=)
c.14130G= (p.Ala4710=)
n.14691G=
6g.152330498C>GCA452970808SYNE1c.14187G>C (p.Ala4729=)
c.13974G>C (p.Ala4658=)
c.13377G>C (p.Ala4459=)
c.-1732G>C (n.-1732G>C)
n.1533G>C
c.14208G>C (p.Ala4736=)
c.14157G>C (p.Ala4719=)
c.14136G>C (p.Ala4712=)
c.14052G>C (p.Ala4684=)
c.14049G>C (p.Ala4683=)
c.14043G>C (p.Ala4681=)
c.12483G>C (p.Ala4161=)
c.11976G>C (p.Ala3992=)
c.7443G>C (p.Ala2481=)
c.14181G>C (p.Ala4727=)
c.14130G>C (p.Ala4710=)
n.14691G>C
6g.152330498C>TCA10604797SYNE1c.14187G>A (p.Ala4729=)
c.13974G>A (p.Ala4658=)
c.13377G>A (p.Ala4459=)
c.-1732G>A (n.-1732G>A)
n.1533G>A
c.14208G>A (p.Ala4736=)
c.14157G>A (p.Ala4719=)
c.14136G>A (p.Ala4712=)
c.14052G>A (p.Ala4684=)
c.14049G>A (p.Ala4683=)
c.14043G>A (p.Ala4681=)
c.12483G>A (p.Ala4161=)
c.11976G>A (p.Ala3992=)
c.7443G>A (p.Ala2481=)
c.14181G>A (p.Ala4727=)
c.14130G>A (p.Ala4710=)
n.14691G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.152330499G>ACA366098555SYNE1c.14186C>T (p.Ala4729Val)
c.13973C>T (p.Ala4658Val)
c.13376C>T (p.Ala4459Val)
c.-1733C>T (n.-1733C>T)
n.1532C>T
c.14207C>T (p.Ala4736Val)
c.14156C>T (p.Ala4719Val)
c.14135C>T (p.Ala4712Val)
c.14051C>T (p.Ala4684Val)
c.14048C>T (p.Ala4683Val)
c.14042C>T (p.Ala4681Val)
c.12482C>T (p.Ala4161Val)
c.11975C>T (p.Ala3992Val)
c.7442C>T (p.Ala2481Val)
c.14180C>T (p.Ala4727Val)
c.14129C>T (p.Ala4710Val)
n.14690C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152330499G>CCA366098556SYNE1c.14186C>G (p.Ala4729Gly)
c.13973C>G (p.Ala4658Gly)
c.13376C>G (p.Ala4459Gly)
c.-1733C>G (n.-1733C>G)
n.1532C>G
c.14207C>G (p.Ala4736Gly)
c.14156C>G (p.Ala4719Gly)
c.14135C>G (p.Ala4712Gly)
c.14051C>G (p.Ala4684Gly)
c.14048C>G (p.Ala4683Gly)
c.14042C>G (p.Ala4681Gly)
c.12482C>G (p.Ala4161Gly)
c.11975C>G (p.Ala3992Gly)
c.7442C>G (p.Ala2481Gly)
c.14180C>G (p.Ala4727Gly)
c.14129C>G (p.Ala4710Gly)
n.14690C>G
6g.152330499G=CA1673273865SYNE1c.14186C= (p.Ala4729=)
c.13973C= (p.Ala4658=)
c.13376C= (p.Ala4459=)
c.-1733C= (n.-1733C=)
n.1532C=
c.14207C= (p.Ala4736=)
c.14156C= (p.Ala4719=)
c.14135C= (p.Ala4712=)
c.14051C= (p.Ala4684=)
c.14048C= (p.Ala4683=)
c.14042C= (p.Ala4681=)
c.12482C= (p.Ala4161=)
c.11975C= (p.Ala3992=)
c.7442C= (p.Ala2481=)
c.14180C= (p.Ala4727=)
c.14129C= (p.Ala4710=)
n.14690C=
6g.152330499G>TCA4056053SYNE1c.14186C>A (p.Ala4729Glu)
c.13973C>A (p.Ala4658Glu)
c.13376C>A (p.Ala4459Glu)
c.-1733C>A (n.-1733C>A)
n.1532C>A
c.14207C>A (p.Ala4736Glu)
c.14156C>A (p.Ala4719Glu)
c.14135C>A (p.Ala4712Glu)
c.14051C>A (p.Ala4684Glu)
c.14048C>A (p.Ala4683Glu)
c.14042C>A (p.Ala4681Glu)
c.12482C>A (p.Ala4161Glu)
c.11975C>A (p.Ala3992Glu)
c.7442C>A (p.Ala2481Glu)
c.14180C>A (p.Ala4727Glu)
c.14129C>A (p.Ala4710Glu)
n.14690C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152330500C>ACA366098557SYNE1c.14185G>T (p.Ala4729Ser)
c.13972G>T (p.Ala4658Ser)
c.13375G>T (p.Ala4459Ser)
c.-1734G>T (n.-1734G>T)
n.1531G>T
c.14206G>T (p.Ala4736Ser)
c.14155G>T (p.Ala4719Ser)
c.14134G>T (p.Ala4712Ser)
c.14050G>T (p.Ala4684Ser)
c.14047G>T (p.Ala4683Ser)
c.14041G>T (p.Ala4681Ser)
c.12481G>T (p.Ala4161Ser)
c.11974G>T (p.Ala3992Ser)
c.7441G>T (p.Ala2481Ser)
c.14179G>T (p.Ala4727Ser)
c.14128G>T (p.Ala4710Ser)
n.14689G>T
6g.152330500C>GCA366098558SYNE1c.14185G>C (p.Ala4729Pro)
c.13972G>C (p.Ala4658Pro)
c.13375G>C (p.Ala4459Pro)
c.-1734G>C (n.-1734G>C)
n.1531G>C
c.14206G>C (p.Ala4736Pro)
c.14155G>C (p.Ala4719Pro)
c.14134G>C (p.Ala4712Pro)
c.14050G>C (p.Ala4684Pro)
c.14047G>C (p.Ala4683Pro)
c.14041G>C (p.Ala4681Pro)
c.12481G>C (p.Ala4161Pro)
c.11974G>C (p.Ala3992Pro)
c.7441G>C (p.Ala2481Pro)
c.14179G>C (p.Ala4727Pro)
c.14128G>C (p.Ala4710Pro)
n.14689G>C
6g.152330500C>TCA366098559SYNE1c.14185G>A (p.Ala4729Thr)
c.13972G>A (p.Ala4658Thr)
c.13375G>A (p.Ala4459Thr)
c.-1734G>A (n.-1734G>A)
n.1531G>A
c.14206G>A (p.Ala4736Thr)
c.14155G>A (p.Ala4719Thr)
c.14134G>A (p.Ala4712Thr)
c.14050G>A (p.Ala4684Thr)
c.14047G>A (p.Ala4683Thr)
c.14041G>A (p.Ala4681Thr)
c.12481G>A (p.Ala4161Thr)
c.11974G>A (p.Ala3992Thr)
c.7441G>A (p.Ala2481Thr)
c.14179G>A (p.Ala4727Thr)
c.14128G>A (p.Ala4710Thr)
n.14689G>A
6g.152330501C>ACA366098560SYNE1c.14184G>T (p.Glu4728Asp)
c.13971G>T (p.Glu4657Asp)
c.13374G>T (p.Glu4458Asp)
c.-1735G>T (n.-1735G>T)
n.1530G>T
c.14205G>T (p.Glu4735Asp)
c.14154G>T (p.Glu4718Asp)
c.14133G>T (p.Glu4711Asp)
c.14049G>T (p.Glu4683Asp)
c.14046G>T (p.Glu4682Asp)
c.14040G>T (p.Glu4680Asp)
c.12480G>T (p.Glu4160Asp)
c.11973G>T (p.Glu3991Asp)
c.7440G>T (p.Glu2480Asp)
c.14178G>T (p.Glu4726Asp)
c.14127G>T (p.Glu4709Asp)
n.14688G>T
6g.152330501C=CA1673273871SYNE1c.14184G= (p.Glu4728=)
c.13971G= (p.Glu4657=)
c.13374G= (p.Glu4458=)
c.-1735G= (n.-1735G=)
n.1530G=
c.14205G= (p.Glu4735=)
c.14154G= (p.Glu4718=)
c.14133G= (p.Glu4711=)
c.14049G= (p.Glu4683=)
c.14046G= (p.Glu4682=)
c.14040G= (p.Glu4680=)
c.12480G= (p.Glu4160=)
c.11973G= (p.Glu3991=)
c.7440G= (p.Glu2480=)
c.14178G= (p.Glu4726=)
c.14127G= (p.Glu4709=)
n.14688G=
6g.152330501C>GCA366098561SYNE1c.14184G>C (p.Glu4728Asp)
c.13971G>C (p.Glu4657Asp)
c.13374G>C (p.Glu4458Asp)
c.-1735G>C (n.-1735G>C)
n.1530G>C
c.14205G>C (p.Glu4735Asp)
c.14154G>C (p.Glu4718Asp)
c.14133G>C (p.Glu4711Asp)
c.14049G>C (p.Glu4683Asp)
c.14046G>C (p.Glu4682Asp)
c.14040G>C (p.Glu4680Asp)
c.12480G>C (p.Glu4160Asp)
c.11973G>C (p.Glu3991Asp)
c.7440G>C (p.Glu2480Asp)
c.14178G>C (p.Glu4726Asp)
c.14127G>C (p.Glu4709Asp)
n.14688G>C
6g.152330501C>TCA452970810SYNE1c.14184G>A (p.Glu4728=)
c.13971G>A (p.Glu4657=)
c.13374G>A (p.Glu4458=)
c.-1735G>A (n.-1735G>A)
n.1530G>A
c.14205G>A (p.Glu4735=)
c.14154G>A (p.Glu4718=)
c.14133G>A (p.Glu4711=)
c.14049G>A (p.Glu4683=)
c.14046G>A (p.Glu4682=)
c.14040G>A (p.Glu4680=)
c.12480G>A (p.Glu4160=)
c.11973G>A (p.Glu3991=)
c.7440G>A (p.Glu2480=)
c.14178G>A (p.Glu4726=)
c.14127G>A (p.Glu4709=)
n.14688G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152330502T>ACA366098563SYNE1c.14183A>T (p.Glu4728Val)
c.13970A>T (p.Glu4657Val)
c.13373A>T (p.Glu4458Val)
c.-1736A>T (n.-1736A>T)
n.1529A>T
c.14204A>T (p.Glu4735Val)
c.14153A>T (p.Glu4718Val)
c.14132A>T (p.Glu4711Val)
c.14048A>T (p.Glu4683Val)
c.14045A>T (p.Glu4682Val)
c.14039A>T (p.Glu4680Val)
c.12479A>T (p.Glu4160Val)
c.11972A>T (p.Glu3991Val)
c.7439A>T (p.Glu2480Val)
c.14177A>T (p.Glu4726Val)
c.14126A>T (p.Glu4709Val)
n.14687A>T
6g.152330502T>CCA366098564SYNE1c.14183A>G (p.Glu4728Gly)
c.13970A>G (p.Glu4657Gly)
c.13373A>G (p.Glu4458Gly)
c.-1736A>G (n.-1736A>G)
n.1529A>G
c.14204A>G (p.Glu4735Gly)
c.14153A>G (p.Glu4718Gly)
c.14132A>G (p.Glu4711Gly)
c.14048A>G (p.Glu4683Gly)
c.14045A>G (p.Glu4682Gly)
c.14039A>G (p.Glu4680Gly)
c.12479A>G (p.Glu4160Gly)
c.11972A>G (p.Glu3991Gly)
c.7439A>G (p.Glu2480Gly)
c.14177A>G (p.Glu4726Gly)
c.14126A>G (p.Glu4709Gly)
n.14687A>G
 ClinVar dbSNP
6g.152330502T>GCA366098562SYNE1c.14183A>C (p.Glu4728Ala)
c.13970A>C (p.Glu4657Ala)
c.13373A>C (p.Glu4458Ala)
c.-1736A>C (n.-1736A>C)
n.1529A>C
c.14204A>C (p.Glu4735Ala)
c.14153A>C (p.Glu4718Ala)
c.14132A>C (p.Glu4711Ala)
c.14048A>C (p.Glu4683Ala)
c.14045A>C (p.Glu4682Ala)
c.14039A>C (p.Glu4680Ala)
c.12479A>C (p.Glu4160Ala)
c.11972A>C (p.Glu3991Ala)
c.7439A>C (p.Glu2480Ala)
c.14177A>C (p.Glu4726Ala)
c.14126A>C (p.Glu4709Ala)
n.14687A>C
 gnomAD v4
6g.152330502T=CA1673273876SYNE1c.14183A= (p.Glu4728=)
c.13970A= (p.Glu4657=)
c.13373A= (p.Glu4458=)
c.-1736A= (n.-1736A=)
n.1529A=
c.14204A= (p.Glu4735=)
c.14153A= (p.Glu4718=)
c.14132A= (p.Glu4711=)
c.14048A= (p.Glu4683=)
c.14045A= (p.Glu4682=)
c.14039A= (p.Glu4680=)
c.12479A= (p.Glu4160=)
c.11972A= (p.Glu3991=)
c.7439A= (p.Glu2480=)
c.14177A= (p.Glu4726=)
c.14126A= (p.Glu4709=)
n.14687A=
6g.152330503C>ACA366098566SYNE1c.14182G>T (p.Glu4728Ter)
c.13969G>T (p.Glu4657Ter)
c.13372G>T (p.Glu4458Ter)
c.-1737G>T (n.-1737G>T)
n.1528G>T
c.14203G>T (p.Glu4735Ter)
c.14152G>T (p.Glu4718Ter)
c.14131G>T (p.Glu4711Ter)
c.14047G>T (p.Glu4683Ter)
c.14044G>T (p.Glu4682Ter)
c.14038G>T (p.Glu4680Ter)
c.12478G>T (p.Glu4160Ter)
c.11971G>T (p.Glu3991Ter)
c.7438G>T (p.Glu2480Ter)
c.14176G>T (p.Glu4726Ter)
c.14125G>T (p.Glu4709Ter)
n.14686G>T
6g.152330503C=CA1673273881SYNE1c.14182G= (p.Glu4728=)
c.13969G= (p.Glu4657=)
c.13372G= (p.Glu4458=)
c.-1737G= (n.-1737G=)
n.1528G=
c.14203G= (p.Glu4735=)
c.14152G= (p.Glu4718=)
c.14131G= (p.Glu4711=)
c.14047G= (p.Glu4683=)
c.14044G= (p.Glu4682=)
c.14038G= (p.Glu4680=)
c.12478G= (p.Glu4160=)
c.11971G= (p.Glu3991=)
c.7438G= (p.Glu2480=)
c.14176G= (p.Glu4726=)
c.14125G= (p.Glu4709=)
n.14686G=
6g.152330503C>GCA366098565SYNE1c.14182G>C (p.Glu4728Gln)
c.13969G>C (p.Glu4657Gln)
c.13372G>C (p.Glu4458Gln)
c.-1737G>C (n.-1737G>C)
n.1528G>C
c.14203G>C (p.Glu4735Gln)
c.14152G>C (p.Glu4718Gln)
c.14131G>C (p.Glu4711Gln)
c.14047G>C (p.Glu4683Gln)
c.14044G>C (p.Glu4682Gln)
c.14038G>C (p.Glu4680Gln)
c.12478G>C (p.Glu4160Gln)
c.11971G>C (p.Glu3991Gln)
c.7438G>C (p.Glu2480Gln)
c.14176G>C (p.Glu4726Gln)
c.14125G>C (p.Glu4709Gln)
n.14686G>C
6g.152330503C>TCA4056054SYNE1c.14182G>A (p.Glu4728Lys)
c.13969G>A (p.Glu4657Lys)
c.13372G>A (p.Glu4458Lys)
c.-1737G>A (n.-1737G>A)
n.1528G>A
c.14203G>A (p.Glu4735Lys)
c.14152G>A (p.Glu4718Lys)
c.14131G>A (p.Glu4711Lys)
c.14047G>A (p.Glu4683Lys)
c.14044G>A (p.Glu4682Lys)
c.14038G>A (p.Glu4680Lys)
c.12478G>A (p.Glu4160Lys)
c.11971G>A (p.Glu3991Lys)
c.7438G>A (p.Glu2480Lys)
c.14176G>A (p.Glu4726Lys)
c.14125G>A (p.Glu4709Lys)
n.14686G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152330504C>ACA452970811SYNE1c.14181G>T (p.Gly4727=)
c.13968G>T (p.Gly4656=)
c.13371G>T (p.Gly4457=)
c.-1738G>T (n.-1738G>T)
n.1527G>T
c.14202G>T (p.Gly4734=)
c.14151G>T (p.Gly4717=)
c.14130G>T (p.Gly4710=)
c.14046G>T (p.Gly4682=)
c.14043G>T (p.Gly4681=)
c.14037G>T (p.Gly4679=)
c.12477G>T (p.Gly4159=)
c.11970G>T (p.Gly3990=)
c.7437G>T (p.Gly2479=)
c.14175G>T (p.Gly4725=)
c.14124G>T (p.Gly4708=)
n.14685G>T
6g.152330504C>GCA452970812SYNE1c.14181G>C (p.Gly4727=)
c.13968G>C (p.Gly4656=)
c.13371G>C (p.Gly4457=)
c.-1738G>C (n.-1738G>C)
n.1527G>C
c.14202G>C (p.Gly4734=)
c.14151G>C (p.Gly4717=)
c.14130G>C (p.Gly4710=)
c.14046G>C (p.Gly4682=)
c.14043G>C (p.Gly4681=)
c.14037G>C (p.Gly4679=)
c.12477G>C (p.Gly4159=)
c.11970G>C (p.Gly3990=)
c.7437G>C (p.Gly2479=)
c.14175G>C (p.Gly4725=)
c.14124G>C (p.Gly4708=)
n.14685G>C
6g.152330504C>TCA452970813SYNE1c.14181G>A (p.Gly4727=)
c.13968G>A (p.Gly4656=)
c.13371G>A (p.Gly4457=)
c.-1738G>A (n.-1738G>A)
n.1527G>A
c.14202G>A (p.Gly4734=)
c.14151G>A (p.Gly4717=)
c.14130G>A (p.Gly4710=)
c.14046G>A (p.Gly4682=)
c.14043G>A (p.Gly4681=)
c.14037G>A (p.Gly4679=)
c.12477G>A (p.Gly4159=)
c.11970G>A (p.Gly3990=)
c.7437G>A (p.Gly2479=)
c.14175G>A (p.Gly4725=)
c.14124G>A (p.Gly4708=)
n.14685G>A
 gnomAD v4
6g.152330505C>ACA366098567SYNE1c.14180G>T (p.Gly4727Val)
c.13967G>T (p.Gly4656Val)
c.13370G>T (p.Gly4457Val)
c.-1739G>T (n.-1739G>T)
n.1526G>T
c.14201G>T (p.Gly4734Val)
c.14150G>T (p.Gly4717Val)
c.14129G>T (p.Gly4710Val)
c.14045G>T (p.Gly4682Val)
c.14042G>T (p.Gly4681Val)
c.14036G>T (p.Gly4679Val)
c.12476G>T (p.Gly4159Val)
c.11969G>T (p.Gly3990Val)
c.7436G>T (p.Gly2479Val)
c.14174G>T (p.Gly4725Val)
c.14123G>T (p.Gly4708Val)
n.14684G>T
6g.152330505C>GCA366098568SYNE1c.14180G>C (p.Gly4727Ala)
c.13967G>C (p.Gly4656Ala)
c.13370G>C (p.Gly4457Ala)
c.-1739G>C (n.-1739G>C)
n.1526G>C
c.14201G>C (p.Gly4734Ala)
c.14150G>C (p.Gly4717Ala)
c.14129G>C (p.Gly4710Ala)
c.14045G>C (p.Gly4682Ala)
c.14042G>C (p.Gly4681Ala)
c.14036G>C (p.Gly4679Ala)
c.12476G>C (p.Gly4159Ala)
c.11969G>C (p.Gly3990Ala)
c.7436G>C (p.Gly2479Ala)
c.14174G>C (p.Gly4725Ala)
c.14123G>C (p.Gly4708Ala)
n.14684G>C
6g.152330505C>TCA366098569SYNE1c.14180G>A (p.Gly4727Glu)
c.13967G>A (p.Gly4656Glu)
c.13370G>A (p.Gly4457Glu)
c.-1739G>A (n.-1739G>A)
n.1526G>A
c.14201G>A (p.Gly4734Glu)
c.14150G>A (p.Gly4717Glu)
c.14129G>A (p.Gly4710Glu)
c.14045G>A (p.Gly4682Glu)
c.14042G>A (p.Gly4681Glu)
c.14036G>A (p.Gly4679Glu)
c.12476G>A (p.Gly4159Glu)
c.11969G>A (p.Gly3990Glu)
c.7436G>A (p.Gly2479Glu)
c.14174G>A (p.Gly4725Glu)
c.14123G>A (p.Gly4708Glu)
n.14684G>A
 ClinVar
6g.152330506C>ACA366098570SYNE1c.14179G>T (p.Gly4727Trp)
c.13966G>T (p.Gly4656Trp)
c.13369G>T (p.Gly4457Trp)
c.-1740G>T (n.-1740G>T)
n.1525G>T
c.14200G>T (p.Gly4734Trp)
c.14149G>T (p.Gly4717Trp)
c.14128G>T (p.Gly4710Trp)
c.14044G>T (p.Gly4682Trp)
c.14041G>T (p.Gly4681Trp)
c.14035G>T (p.Gly4679Trp)
c.12475G>T (p.Gly4159Trp)
c.11968G>T (p.Gly3990Trp)
c.7435G>T (p.Gly2479Trp)
c.14173G>T (p.Gly4725Trp)
c.14122G>T (p.Gly4708Trp)
n.14683G>T
 gnomAD v4
6g.152330506C=CA1673273891SYNE1c.14179G= (p.Gly4727=)
c.13966G= (p.Gly4656=)
c.13369G= (p.Gly4457=)
c.-1740G= (n.-1740G=)
n.1525G=
c.14200G= (p.Gly4734=)
c.14149G= (p.Gly4717=)
c.14128G= (p.Gly4710=)
c.14044G= (p.Gly4682=)
c.14041G= (p.Gly4681=)
c.14035G= (p.Gly4679=)
c.12475G= (p.Gly4159=)
c.11968G= (p.Gly3990=)
c.7435G= (p.Gly2479=)
c.14173G= (p.Gly4725=)
c.14122G= (p.Gly4708=)
n.14683G=
6g.152330506C>GCA366098571SYNE1c.14179G>C (p.Gly4727Arg)
c.13966G>C (p.Gly4656Arg)
c.13369G>C (p.Gly4457Arg)
c.-1740G>C (n.-1740G>C)
n.1525G>C
c.14200G>C (p.Gly4734Arg)
c.14149G>C (p.Gly4717Arg)
c.14128G>C (p.Gly4710Arg)
c.14044G>C (p.Gly4682Arg)
c.14041G>C (p.Gly4681Arg)
c.14035G>C (p.Gly4679Arg)
c.12475G>C (p.Gly4159Arg)
c.11968G>C (p.Gly3990Arg)
c.7435G>C (p.Gly2479Arg)
c.14173G>C (p.Gly4725Arg)
c.14122G>C (p.Gly4708Arg)
n.14683G>C
6g.152330506C>TCA366098572SYNE1c.14179G>A (p.Gly4727Arg)
c.13966G>A (p.Gly4656Arg)
c.13369G>A (p.Gly4457Arg)
c.-1740G>A (n.-1740G>A)
n.1525G>A
c.14200G>A (p.Gly4734Arg)
c.14149G>A (p.Gly4717Arg)
c.14128G>A (p.Gly4710Arg)
c.14044G>A (p.Gly4682Arg)
c.14041G>A (p.Gly4681Arg)
c.14035G>A (p.Gly4679Arg)
c.12475G>A (p.Gly4159Arg)
c.11968G>A (p.Gly3990Arg)
c.7435G>A (p.Gly2479Arg)
c.14173G>A (p.Gly4725Arg)
c.14122G>A (p.Gly4708Arg)
n.14683G>A
 dbSNP gnomAD v2 gnomAD v4
6g.152330507A>CCA452970816SYNE1c.14178T>G (p.Leu4726=)
c.13965T>G (p.Leu4655=)
c.13368T>G (p.Leu4456=)
c.-1741T>G (n.-1741T>G)
n.1524T>G
c.14199T>G (p.Leu4733=)
c.14148T>G (p.Leu4716=)
c.14127T>G (p.Leu4709=)
c.14043T>G (p.Leu4681=)
c.14040T>G (p.Leu4680=)
c.14034T>G (p.Leu4678=)
c.12474T>G (p.Leu4158=)
c.11967T>G (p.Leu3989=)
c.7434T>G (p.Leu2478=)
c.14172T>G (p.Leu4724=)
c.14121T>G (p.Leu4707=)
n.14682T>G
6g.152330507A>GCA452970817SYNE1c.14178T>C (p.Leu4726=)
c.13965T>C (p.Leu4655=)
c.13368T>C (p.Leu4456=)
c.-1741T>C (n.-1741T>C)
n.1524T>C
c.14199T>C (p.Leu4733=)
c.14148T>C (p.Leu4716=)
c.14127T>C (p.Leu4709=)
c.14043T>C (p.Leu4681=)
c.14040T>C (p.Leu4680=)
c.14034T>C (p.Leu4678=)
c.12474T>C (p.Leu4158=)
c.11967T>C (p.Leu3989=)
c.7434T>C (p.Leu2478=)
c.14172T>C (p.Leu4724=)
c.14121T>C (p.Leu4707=)
n.14682T>C
6g.152330507A>TCA452970815SYNE1c.14178T>A (p.Leu4726=)
c.13965T>A (p.Leu4655=)
c.13368T>A (p.Leu4456=)
c.-1741T>A (n.-1741T>A)
n.1524T>A
c.14199T>A (p.Leu4733=)
c.14148T>A (p.Leu4716=)
c.14127T>A (p.Leu4709=)
c.14043T>A (p.Leu4681=)
c.14040T>A (p.Leu4680=)
c.14034T>A (p.Leu4678=)
c.12474T>A (p.Leu4158=)
c.11967T>A (p.Leu3989=)
c.7434T>A (p.Leu2478=)
c.14172T>A (p.Leu4724=)
c.14121T>A (p.Leu4707=)
n.14682T>A
 gnomAD v4
6g.152330508A>CCA366098573SYNE1c.14177T>G (p.Leu4726Arg)
c.13964T>G (p.Leu4655Arg)
c.13367T>G (p.Leu4456Arg)
c.-1742T>G (n.-1742T>G)
n.1523T>G
c.14198T>G (p.Leu4733Arg)
c.14147T>G (p.Leu4716Arg)
c.14126T>G (p.Leu4709Arg)
c.14042T>G (p.Leu4681Arg)
c.14039T>G (p.Leu4680Arg)
c.14033T>G (p.Leu4678Arg)
c.12473T>G (p.Leu4158Arg)
c.11966T>G (p.Leu3989Arg)
c.7433T>G (p.Leu2478Arg)
c.14171T>G (p.Leu4724Arg)
c.14120T>G (p.Leu4707Arg)
n.14681T>G
6g.152330508A>GCA366098574SYNE1c.14177T>C (p.Leu4726Pro)
c.13964T>C (p.Leu4655Pro)
c.13367T>C (p.Leu4456Pro)
c.-1742T>C (n.-1742T>C)
n.1523T>C
c.14198T>C (p.Leu4733Pro)
c.14147T>C (p.Leu4716Pro)
c.14126T>C (p.Leu4709Pro)
c.14042T>C (p.Leu4681Pro)
c.14039T>C (p.Leu4680Pro)
c.14033T>C (p.Leu4678Pro)
c.12473T>C (p.Leu4158Pro)
c.11966T>C (p.Leu3989Pro)
c.7433T>C (p.Leu2478Pro)
c.14171T>C (p.Leu4724Pro)
c.14120T>C (p.Leu4707Pro)
n.14681T>C
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330508A>TCA366098575SYNE1c.14177T>A (p.Leu4726His)
c.13964T>A (p.Leu4655His)
c.13367T>A (p.Leu4456His)
c.-1742T>A (n.-1742T>A)
n.1523T>A
c.14198T>A (p.Leu4733His)
c.14147T>A (p.Leu4716His)
c.14126T>A (p.Leu4709His)
c.14042T>A (p.Leu4681His)
c.14039T>A (p.Leu4680His)
c.14033T>A (p.Leu4678His)
c.12473T>A (p.Leu4158His)
c.11966T>A (p.Leu3989His)
c.7433T>A (p.Leu2478His)
c.14171T>A (p.Leu4724His)
c.14120T>A (p.Leu4707His)
n.14681T>A
6g.152330509G>ACA366098576SYNE1c.14176C>T (p.Leu4726Phe)
c.13963C>T (p.Leu4655Phe)
c.13366C>T (p.Leu4456Phe)
c.-1743C>T (n.-1743C>T)
n.1522C>T
c.14197C>T (p.Leu4733Phe)
c.14146C>T (p.Leu4716Phe)
c.14125C>T (p.Leu4709Phe)
c.14041C>T (p.Leu4681Phe)
c.14038C>T (p.Leu4680Phe)
c.14032C>T (p.Leu4678Phe)
c.12472C>T (p.Leu4158Phe)
c.11965C>T (p.Leu3989Phe)
c.7432C>T (p.Leu2478Phe)
c.14170C>T (p.Leu4724Phe)
c.14119C>T (p.Leu4707Phe)
n.14680C>T
 gnomAD v4
6g.152330509G>CCA366098577SYNE1c.14176C>G (p.Leu4726Val)
c.13963C>G (p.Leu4655Val)
c.13366C>G (p.Leu4456Val)
c.-1743C>G (n.-1743C>G)
n.1522C>G
c.14197C>G (p.Leu4733Val)
c.14146C>G (p.Leu4716Val)
c.14125C>G (p.Leu4709Val)
c.14041C>G (p.Leu4681Val)
c.14038C>G (p.Leu4680Val)
c.14032C>G (p.Leu4678Val)
c.12472C>G (p.Leu4158Val)
c.11965C>G (p.Leu3989Val)
c.7432C>G (p.Leu2478Val)
c.14170C>G (p.Leu4724Val)
c.14119C>G (p.Leu4707Val)
n.14680C>G
 dbSNP
6g.152330509G=CA1673273925SYNE1c.14176C= (p.Leu4726=)
c.13963C= (p.Leu4655=)
c.13366C= (p.Leu4456=)
c.-1743C= (n.-1743C=)
n.1522C=
c.14197C= (p.Leu4733=)
c.14146C= (p.Leu4716=)
c.14125C= (p.Leu4709=)
c.14041C= (p.Leu4681=)
c.14038C= (p.Leu4680=)
c.14032C= (p.Leu4678=)
c.12472C= (p.Leu4158=)
c.11965C= (p.Leu3989=)
c.7432C= (p.Leu2478=)
c.14170C= (p.Leu4724=)
c.14119C= (p.Leu4707=)
n.14680C=
6g.152330509G>TCA4056055SYNE1c.14176C>A (p.Leu4726Ile)
c.13963C>A (p.Leu4655Ile)
c.13366C>A (p.Leu4456Ile)
c.-1743C>A (n.-1743C>A)
n.1522C>A
c.14197C>A (p.Leu4733Ile)
c.14146C>A (p.Leu4716Ile)
c.14125C>A (p.Leu4709Ile)
c.14041C>A (p.Leu4681Ile)
c.14038C>A (p.Leu4680Ile)
c.14032C>A (p.Leu4678Ile)
c.12472C>A (p.Leu4158Ile)
c.11965C>A (p.Leu3989Ile)
c.7432C>A (p.Leu2478Ile)
c.14170C>A (p.Leu4724Ile)
c.14119C>A (p.Leu4707Ile)
n.14680C>A
 dbSNP ExAC gnomAD v2
6g.152330510G>ACA4056056SYNE1c.14175C>T (p.Gly4725=)
c.13962C>T (p.Gly4654=)
c.13365C>T (p.Gly4455=)
c.-1744C>T (n.-1744C>T)
n.1521C>T
c.14196C>T (p.Gly4732=)
c.14145C>T (p.Gly4715=)
c.14124C>T (p.Gly4708=)
c.14040C>T (p.Gly4680=)
c.14037C>T (p.Gly4679=)
c.14031C>T (p.Gly4677=)
c.12471C>T (p.Gly4157=)
c.11964C>T (p.Gly3988=)
c.7431C>T (p.Gly2477=)
c.14169C>T (p.Gly4723=)
c.14118C>T (p.Gly4706=)
n.14679C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330510G>CCA452970819SYNE1c.14175C>G (p.Gly4725=)
c.13962C>G (p.Gly4654=)
c.13365C>G (p.Gly4455=)
c.-1744C>G (n.-1744C>G)
n.1521C>G
c.14196C>G (p.Gly4732=)
c.14145C>G (p.Gly4715=)
c.14124C>G (p.Gly4708=)
c.14040C>G (p.Gly4680=)
c.14037C>G (p.Gly4679=)
c.14031C>G (p.Gly4677=)
c.12471C>G (p.Gly4157=)
c.11964C>G (p.Gly3988=)
c.7431C>G (p.Gly2477=)
c.14169C>G (p.Gly4723=)
c.14118C>G (p.Gly4706=)
n.14679C>G
6g.152330510G=CA1673273928SYNE1c.14175C= (p.Gly4725=)
c.13962C= (p.Gly4654=)
c.13365C= (p.Gly4455=)
c.-1744C= (n.-1744C=)
n.1521C=
c.14196C= (p.Gly4732=)
c.14145C= (p.Gly4715=)
c.14124C= (p.Gly4708=)
c.14040C= (p.Gly4680=)
c.14037C= (p.Gly4679=)
c.14031C= (p.Gly4677=)
c.12471C= (p.Gly4157=)
c.11964C= (p.Gly3988=)
c.7431C= (p.Gly2477=)
c.14169C= (p.Gly4723=)
c.14118C= (p.Gly4706=)
n.14679C=
6g.152330510G>TCA452970821SYNE1c.14175C>A (p.Gly4725=)
c.13962C>A (p.Gly4654=)
c.13365C>A (p.Gly4455=)
c.-1744C>A (n.-1744C>A)
n.1521C>A
c.14196C>A (p.Gly4732=)
c.14145C>A (p.Gly4715=)
c.14124C>A (p.Gly4708=)
c.14040C>A (p.Gly4680=)
c.14037C>A (p.Gly4679=)
c.14031C>A (p.Gly4677=)
c.12471C>A (p.Gly4157=)
c.11964C>A (p.Gly3988=)
c.7431C>A (p.Gly2477=)
c.14169C>A (p.Gly4723=)
c.14118C>A (p.Gly4706=)
n.14679C>A
6g.152330511C>ACA366098578SYNE1c.14174G>T (p.Gly4725Val)
c.13961G>T (p.Gly4654Val)
c.13364G>T (p.Gly4455Val)
c.-1745G>T (n.-1745G>T)
n.1520G>T
c.14195G>T (p.Gly4732Val)
c.14144G>T (p.Gly4715Val)
c.14123G>T (p.Gly4708Val)
c.14039G>T (p.Gly4680Val)
c.14036G>T (p.Gly4679Val)
c.14030G>T (p.Gly4677Val)
c.12470G>T (p.Gly4157Val)
c.11963G>T (p.Gly3988Val)
c.7430G>T (p.Gly2477Val)
c.14168G>T (p.Gly4723Val)
c.14117G>T (p.Gly4706Val)
n.14678G>T
6g.152330511C=CA1673273932SYNE1c.14174G= (p.Gly4725=)
c.13961G= (p.Gly4654=)
c.13364G= (p.Gly4455=)
c.-1745G= (n.-1745G=)
n.1520G=
c.14195G= (p.Gly4732=)
c.14144G= (p.Gly4715=)
c.14123G= (p.Gly4708=)
c.14039G= (p.Gly4680=)
c.14036G= (p.Gly4679=)
c.14030G= (p.Gly4677=)
c.12470G= (p.Gly4157=)
c.11963G= (p.Gly3988=)
c.7430G= (p.Gly2477=)
c.14168G= (p.Gly4723=)
c.14117G= (p.Gly4706=)
n.14678G=
6g.152330511C>GCA366098579SYNE1c.14174G>C (p.Gly4725Ala)
c.13961G>C (p.Gly4654Ala)
c.13364G>C (p.Gly4455Ala)
c.-1745G>C (n.-1745G>C)
n.1520G>C
c.14195G>C (p.Gly4732Ala)
c.14144G>C (p.Gly4715Ala)
c.14123G>C (p.Gly4708Ala)
c.14039G>C (p.Gly4680Ala)
c.14036G>C (p.Gly4679Ala)
c.14030G>C (p.Gly4677Ala)
c.12470G>C (p.Gly4157Ala)
c.11963G>C (p.Gly3988Ala)
c.7430G>C (p.Gly2477Ala)
c.14168G>C (p.Gly4723Ala)
c.14117G>C (p.Gly4706Ala)
n.14678G>C
6g.152330511C>TCA366098580SYNE1c.14174G>A (p.Gly4725Asp)
c.13961G>A (p.Gly4654Asp)
c.13364G>A (p.Gly4455Asp)
c.-1745G>A (n.-1745G>A)
n.1520G>A
c.14195G>A (p.Gly4732Asp)
c.14144G>A (p.Gly4715Asp)
c.14123G>A (p.Gly4708Asp)
c.14039G>A (p.Gly4680Asp)
c.14036G>A (p.Gly4679Asp)
c.14030G>A (p.Gly4677Asp)
c.12470G>A (p.Gly4157Asp)
c.11963G>A (p.Gly3988Asp)
c.7430G>A (p.Gly2477Asp)
c.14168G>A (p.Gly4723Asp)
c.14117G>A (p.Gly4706Asp)
n.14678G>A
 dbSNP gnomAD v3 gnomAD v4
6g.152330512C>ACA366098581SYNE1c.14173G>T (p.Gly4725Cys)
c.13960G>T (p.Gly4654Cys)
c.13363G>T (p.Gly4455Cys)
c.-1746G>T (n.-1746G>T)
n.1519G>T
c.14194G>T (p.Gly4732Cys)
c.14143G>T (p.Gly4715Cys)
c.14122G>T (p.Gly4708Cys)
c.14038G>T (p.Gly4680Cys)
c.14035G>T (p.Gly4679Cys)
c.14029G>T (p.Gly4677Cys)
c.12469G>T (p.Gly4157Cys)
c.11962G>T (p.Gly3988Cys)
c.7429G>T (p.Gly2477Cys)
c.14167G>T (p.Gly4723Cys)
c.14116G>T (p.Gly4706Cys)
n.14677G>T
6g.152330512C=CA1673273936SYNE1c.14173G= (p.Gly4725=)
c.13960G= (p.Gly4654=)
c.13363G= (p.Gly4455=)
c.-1746G= (n.-1746G=)
n.1519G=
c.14194G= (p.Gly4732=)
c.14143G= (p.Gly4715=)
c.14122G= (p.Gly4708=)
c.14038G= (p.Gly4680=)
c.14035G= (p.Gly4679=)
c.14029G= (p.Gly4677=)
c.12469G= (p.Gly4157=)
c.11962G= (p.Gly3988=)
c.7429G= (p.Gly2477=)
c.14167G= (p.Gly4723=)
c.14116G= (p.Gly4706=)
n.14677G=
6g.152330512C>GCA366098582SYNE1c.14173G>C (p.Gly4725Arg)
c.13960G>C (p.Gly4654Arg)
c.13363G>C (p.Gly4455Arg)
c.-1746G>C (n.-1746G>C)
n.1519G>C
c.14194G>C (p.Gly4732Arg)
c.14143G>C (p.Gly4715Arg)
c.14122G>C (p.Gly4708Arg)
c.14038G>C (p.Gly4680Arg)
c.14035G>C (p.Gly4679Arg)
c.14029G>C (p.Gly4677Arg)
c.12469G>C (p.Gly4157Arg)
c.11962G>C (p.Gly3988Arg)
c.7429G>C (p.Gly2477Arg)
c.14167G>C (p.Gly4723Arg)
c.14116G>C (p.Gly4706Arg)
n.14677G>C
6g.152330512C>TCA366098583SYNE1c.14173G>A (p.Gly4725Ser)
c.13960G>A (p.Gly4654Ser)
c.13363G>A (p.Gly4455Ser)
c.-1746G>A (n.-1746G>A)
n.1519G>A
c.14194G>A (p.Gly4732Ser)
c.14143G>A (p.Gly4715Ser)
c.14122G>A (p.Gly4708Ser)
c.14038G>A (p.Gly4680Ser)
c.14035G>A (p.Gly4679Ser)
c.14029G>A (p.Gly4677Ser)
c.12469G>A (p.Gly4157Ser)
c.11962G>A (p.Gly3988Ser)
c.7429G>A (p.Gly2477Ser)
c.14167G>A (p.Gly4723Ser)
c.14116G>A (p.Gly4706Ser)
n.14677G>A
 dbSNP gnomAD v4
6g.152330513C>ACA452970822SYNE1c.14172G>T (p.Ala4724=)
c.13959G>T (p.Ala4653=)
c.13362G>T (p.Ala4454=)
c.-1747G>T (n.-1747G>T)
n.1518G>T
c.14193G>T (p.Ala4731=)
c.14142G>T (p.Ala4714=)
c.14121G>T (p.Ala4707=)
c.14037G>T (p.Ala4679=)
c.14034G>T (p.Ala4678=)
c.14028G>T (p.Ala4676=)
c.12468G>T (p.Ala4156=)
c.11961G>T (p.Ala3987=)
c.7428G>T (p.Ala2476=)
c.14166G>T (p.Ala4722=)
c.14115G>T (p.Ala4705=)
n.14676G>T
6g.152330513C=CA1673273939SYNE1c.14172G= (p.Ala4724=)
c.13959G= (p.Ala4653=)
c.13362G= (p.Ala4454=)
c.-1747G= (n.-1747G=)
n.1518G=
c.14193G= (p.Ala4731=)
c.14142G= (p.Ala4714=)
c.14121G= (p.Ala4707=)
c.14037G= (p.Ala4679=)
c.14034G= (p.Ala4678=)
c.14028G= (p.Ala4676=)
c.12468G= (p.Ala4156=)
c.11961G= (p.Ala3987=)
c.7428G= (p.Ala2476=)
c.14166G= (p.Ala4722=)
c.14115G= (p.Ala4705=)
n.14676G=
6g.152330513C>GCA452970823SYNE1c.14172G>C (p.Ala4724=)
c.13959G>C (p.Ala4653=)
c.13362G>C (p.Ala4454=)
c.-1747G>C (n.-1747G>C)
n.1518G>C
c.14193G>C (p.Ala4731=)
c.14142G>C (p.Ala4714=)
c.14121G>C (p.Ala4707=)
c.14037G>C (p.Ala4679=)
c.14034G>C (p.Ala4678=)
c.14028G>C (p.Ala4676=)
c.12468G>C (p.Ala4156=)
c.11961G>C (p.Ala3987=)
c.7428G>C (p.Ala2476=)
c.14166G>C (p.Ala4722=)
c.14115G>C (p.Ala4705=)
n.14676G>C
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330513C>TCA4056057SYNE1c.14172G>A (p.Ala4724=)
c.13959G>A (p.Ala4653=)
c.13362G>A (p.Ala4454=)
c.-1747G>A (n.-1747G>A)
n.1518G>A
c.14193G>A (p.Ala4731=)
c.14142G>A (p.Ala4714=)
c.14121G>A (p.Ala4707=)
c.14037G>A (p.Ala4679=)
c.14034G>A (p.Ala4678=)
c.14028G>A (p.Ala4676=)
c.12468G>A (p.Ala4156=)
c.11961G>A (p.Ala3987=)
c.7428G>A (p.Ala2476=)
c.14166G>A (p.Ala4722=)
c.14115G>A (p.Ala4705=)
n.14676G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330514G>ACA4056058SYNE1c.14171C>T (p.Ala4724Val)
c.13958C>T (p.Ala4653Val)
c.13361C>T (p.Ala4454Val)
c.-1748C>T (n.-1748C>T)
n.1517C>T
c.14192C>T (p.Ala4731Val)
c.14141C>T (p.Ala4714Val)
c.14120C>T (p.Ala4707Val)
c.14036C>T (p.Ala4679Val)
c.14033C>T (p.Ala4678Val)
c.14027C>T (p.Ala4676Val)
c.12467C>T (p.Ala4156Val)
c.11960C>T (p.Ala3987Val)
c.7427C>T (p.Ala2476Val)
c.14165C>T (p.Ala4722Val)
c.14114C>T (p.Ala4705Val)
n.14675C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330514G>CCA366098584SYNE1c.14171C>G (p.Ala4724Gly)
c.13958C>G (p.Ala4653Gly)
c.13361C>G (p.Ala4454Gly)
c.-1748C>G (n.-1748C>G)
n.1517C>G
c.14192C>G (p.Ala4731Gly)
c.14141C>G (p.Ala4714Gly)
c.14120C>G (p.Ala4707Gly)
c.14036C>G (p.Ala4679Gly)
c.14033C>G (p.Ala4678Gly)
c.14027C>G (p.Ala4676Gly)
c.12467C>G (p.Ala4156Gly)
c.11960C>G (p.Ala3987Gly)
c.7427C>G (p.Ala2476Gly)
c.14165C>G (p.Ala4722Gly)
c.14114C>G (p.Ala4705Gly)
n.14675C>G
6g.152330514G=CA1673273945SYNE1c.14171C= (p.Ala4724=)
c.13958C= (p.Ala4653=)
c.13361C= (p.Ala4454=)
c.-1748C= (n.-1748C=)
n.1517C=
c.14192C= (p.Ala4731=)
c.14141C= (p.Ala4714=)
c.14120C= (p.Ala4707=)
c.14036C= (p.Ala4679=)
c.14033C= (p.Ala4678=)
c.14027C= (p.Ala4676=)
c.12467C= (p.Ala4156=)
c.11960C= (p.Ala3987=)
c.7427C= (p.Ala2476=)
c.14165C= (p.Ala4722=)
c.14114C= (p.Ala4705=)
n.14675C=
6g.152330514G>TCA366098585SYNE1c.14171C>A (p.Ala4724Glu)
c.13958C>A (p.Ala4653Glu)
c.13361C>A (p.Ala4454Glu)
c.-1748C>A (n.-1748C>A)
n.1517C>A
c.14192C>A (p.Ala4731Glu)
c.14141C>A (p.Ala4714Glu)
c.14120C>A (p.Ala4707Glu)
c.14036C>A (p.Ala4679Glu)
c.14033C>A (p.Ala4678Glu)
c.14027C>A (p.Ala4676Glu)
c.12467C>A (p.Ala4156Glu)
c.11960C>A (p.Ala3987Glu)
c.7427C>A (p.Ala2476Glu)
c.14165C>A (p.Ala4722Glu)
c.14114C>A (p.Ala4705Glu)
n.14675C>A
6g.152330515C>ACA366098586SYNE1c.14170G>T (p.Ala4724Ser)
c.13957G>T (p.Ala4653Ser)
c.13360G>T (p.Ala4454Ser)
c.-1749G>T (n.-1749G>T)
n.1516G>T
c.14191G>T (p.Ala4731Ser)
c.14140G>T (p.Ala4714Ser)
c.14119G>T (p.Ala4707Ser)
c.14035G>T (p.Ala4679Ser)
c.14032G>T (p.Ala4678Ser)
c.14026G>T (p.Ala4676Ser)
c.12466G>T (p.Ala4156Ser)
c.11959G>T (p.Ala3987Ser)
c.7426G>T (p.Ala2476Ser)
c.14164G>T (p.Ala4722Ser)
c.14113G>T (p.Ala4705Ser)
n.14674G>T
6g.152330515C=CA1673273947SYNE1c.14170G= (p.Ala4724=)
c.13957G= (p.Ala4653=)
c.13360G= (p.Ala4454=)
c.-1749G= (n.-1749G=)
n.1516G=
c.14191G= (p.Ala4731=)
c.14140G= (p.Ala4714=)
c.14119G= (p.Ala4707=)
c.14035G= (p.Ala4679=)
c.14032G= (p.Ala4678=)
c.14026G= (p.Ala4676=)
c.12466G= (p.Ala4156=)
c.11959G= (p.Ala3987=)
c.7426G= (p.Ala2476=)
c.14164G= (p.Ala4722=)
c.14113G= (p.Ala4705=)
n.14674G=
6g.152330515C>GCA366098587SYNE1c.14170G>C (p.Ala4724Pro)
c.13957G>C (p.Ala4653Pro)
c.13360G>C (p.Ala4454Pro)
c.-1749G>C (n.-1749G>C)
n.1516G>C
c.14191G>C (p.Ala4731Pro)
c.14140G>C (p.Ala4714Pro)
c.14119G>C (p.Ala4707Pro)
c.14035G>C (p.Ala4679Pro)
c.14032G>C (p.Ala4678Pro)
c.14026G>C (p.Ala4676Pro)
c.12466G>C (p.Ala4156Pro)
c.11959G>C (p.Ala3987Pro)
c.7426G>C (p.Ala2476Pro)
c.14164G>C (p.Ala4722Pro)
c.14113G>C (p.Ala4705Pro)
n.14674G>C
6g.152330515C>TCA366098588SYNE1c.14170G>A (p.Ala4724Thr)
c.13957G>A (p.Ala4653Thr)
c.13360G>A (p.Ala4454Thr)
c.-1749G>A (n.-1749G>A)
n.1516G>A
c.14191G>A (p.Ala4731Thr)
c.14140G>A (p.Ala4714Thr)
c.14119G>A (p.Ala4707Thr)
c.14035G>A (p.Ala4679Thr)
c.14032G>A (p.Ala4678Thr)
c.14026G>A (p.Ala4676Thr)
c.12466G>A (p.Ala4156Thr)
c.11959G>A (p.Ala3987Thr)
c.7426G>A (p.Ala2476Thr)
c.14164G>A (p.Ala4722Thr)
c.14113G>A (p.Ala4705Thr)
n.14674G>A
 dbSNP
6g.152330516C>ACA452970827SYNE1c.14169G>T (p.Val4723=)
c.13956G>T (p.Val4652=)
c.13359G>T (p.Val4453=)
c.-1750G>T (n.-1750G>T)
n.1515G>T
c.14190G>T (p.Val4730=)
c.14139G>T (p.Val4713=)
c.14118G>T (p.Val4706=)
c.14034G>T (p.Val4678=)
c.14031G>T (p.Val4677=)
c.14025G>T (p.Val4675=)
c.12465G>T (p.Val4155=)
c.11958G>T (p.Val3986=)
c.7425G>T (p.Val2475=)
c.14163G>T (p.Val4721=)
c.14112G>T (p.Val4704=)
n.14673G>T
6g.152330516C>GCA452970828SYNE1c.14169G>C (p.Val4723=)
c.13956G>C (p.Val4652=)
c.13359G>C (p.Val4453=)
c.-1750G>C (n.-1750G>C)
n.1515G>C
c.14190G>C (p.Val4730=)
c.14139G>C (p.Val4713=)
c.14118G>C (p.Val4706=)
c.14034G>C (p.Val4678=)
c.14031G>C (p.Val4677=)
c.14025G>C (p.Val4675=)
c.12465G>C (p.Val4155=)
c.11958G>C (p.Val3986=)
c.7425G>C (p.Val2475=)
c.14163G>C (p.Val4721=)
c.14112G>C (p.Val4704=)
n.14673G>C
 gnomAD v4
6g.152330516C>TCA452970829SYNE1c.14169G>A (p.Val4723=)
c.13956G>A (p.Val4652=)
c.13359G>A (p.Val4453=)
c.-1750G>A (n.-1750G>A)
n.1515G>A
c.14190G>A (p.Val4730=)
c.14139G>A (p.Val4713=)
c.14118G>A (p.Val4706=)
c.14034G>A (p.Val4678=)
c.14031G>A (p.Val4677=)
c.14025G>A (p.Val4675=)
c.12465G>A (p.Val4155=)
c.11958G>A (p.Val3986=)
c.7425G>A (p.Val2475=)
c.14163G>A (p.Val4721=)
c.14112G>A (p.Val4704=)
n.14673G>A
6g.152330517A>CCA366098591SYNE1c.14168T>G (p.Val4723Gly)
c.13955T>G (p.Val4652Gly)
c.13358T>G (p.Val4453Gly)
c.-1751T>G (n.-1751T>G)
n.1514T>G
c.14189T>G (p.Val4730Gly)
c.14138T>G (p.Val4713Gly)
c.14117T>G (p.Val4706Gly)
c.14033T>G (p.Val4678Gly)
c.14030T>G (p.Val4677Gly)
c.14024T>G (p.Val4675Gly)
c.12464T>G (p.Val4155Gly)
c.11957T>G (p.Val3986Gly)
c.7424T>G (p.Val2475Gly)
c.14162T>G (p.Val4721Gly)
c.14111T>G (p.Val4704Gly)
n.14672T>G
6g.152330517A>GCA366098590SYNE1c.14168T>C (p.Val4723Ala)
c.13955T>C (p.Val4652Ala)
c.13358T>C (p.Val4453Ala)
c.-1751T>C (n.-1751T>C)
n.1514T>C
c.14189T>C (p.Val4730Ala)
c.14138T>C (p.Val4713Ala)
c.14117T>C (p.Val4706Ala)
c.14033T>C (p.Val4678Ala)
c.14030T>C (p.Val4677Ala)
c.14024T>C (p.Val4675Ala)
c.12464T>C (p.Val4155Ala)
c.11957T>C (p.Val3986Ala)
c.7424T>C (p.Val2475Ala)
c.14162T>C (p.Val4721Ala)
c.14111T>C (p.Val4704Ala)
n.14672T>C
6g.152330517A>TCA366098589SYNE1c.14168T>A (p.Val4723Glu)
c.13955T>A (p.Val4652Glu)
c.13358T>A (p.Val4453Glu)
c.-1751T>A (n.-1751T>A)
n.1514T>A
c.14189T>A (p.Val4730Glu)
c.14138T>A (p.Val4713Glu)
c.14117T>A (p.Val4706Glu)
c.14033T>A (p.Val4678Glu)
c.14030T>A (p.Val4677Glu)
c.14024T>A (p.Val4675Glu)
c.12464T>A (p.Val4155Glu)
c.11957T>A (p.Val3986Glu)
c.7424T>A (p.Val2475Glu)
c.14162T>A (p.Val4721Glu)
c.14111T>A (p.Val4704Glu)
n.14672T>A
6g.152330518C>ACA366098592SYNE1c.14167G>T (p.Val4723Leu)
c.13954G>T (p.Val4652Leu)
c.13357G>T (p.Val4453Leu)
c.-1752G>T (n.-1752G>T)
n.1513G>T
c.14188G>T (p.Val4730Leu)
c.14137G>T (p.Val4713Leu)
c.14116G>T (p.Val4706Leu)
c.14032G>T (p.Val4678Leu)
c.14029G>T (p.Val4677Leu)
c.14023G>T (p.Val4675Leu)
c.12463G>T (p.Val4155Leu)
c.11956G>T (p.Val3986Leu)
c.7423G>T (p.Val2475Leu)
c.14161G>T (p.Val4721Leu)
c.14110G>T (p.Val4704Leu)
n.14671G>T
 gnomAD v4
6g.152330518C>GCA366098593SYNE1c.14167G>C (p.Val4723Leu)
c.13954G>C (p.Val4652Leu)
c.13357G>C (p.Val4453Leu)
c.-1752G>C (n.-1752G>C)
n.1513G>C
c.14188G>C (p.Val4730Leu)
c.14137G>C (p.Val4713Leu)
c.14116G>C (p.Val4706Leu)
c.14032G>C (p.Val4678Leu)
c.14029G>C (p.Val4677Leu)
c.14023G>C (p.Val4675Leu)
c.12463G>C (p.Val4155Leu)
c.11956G>C (p.Val3986Leu)
c.7423G>C (p.Val2475Leu)
c.14161G>C (p.Val4721Leu)
c.14110G>C (p.Val4704Leu)
n.14671G>C
6g.152330518C>TCA366098594SYNE1c.14167G>A (p.Val4723Met)
c.13954G>A (p.Val4652Met)
c.13357G>A (p.Val4453Met)
c.-1752G>A (n.-1752G>A)
n.1513G>A
c.14188G>A (p.Val4730Met)
c.14137G>A (p.Val4713Met)
c.14116G>A (p.Val4706Met)
c.14032G>A (p.Val4678Met)
c.14029G>A (p.Val4677Met)
c.14023G>A (p.Val4675Met)
c.12463G>A (p.Val4155Met)
c.11956G>A (p.Val3986Met)
c.7423G>A (p.Val2475Met)
c.14161G>A (p.Val4721Met)
c.14110G>A (p.Val4704Met)
n.14671G>A
6g.152330519C>ACA366098595SYNE1c.14166G>T (p.Glu4722Asp)
c.13953G>T (p.Glu4651Asp)
c.13356G>T (p.Glu4452Asp)
c.-1753G>T (n.-1753G>T)
n.1512G>T
c.14187G>T (p.Glu4729Asp)
c.14136G>T (p.Glu4712Asp)
c.14115G>T (p.Glu4705Asp)
c.14031G>T (p.Glu4677Asp)
c.14028G>T (p.Glu4676Asp)
c.14022G>T (p.Glu4674Asp)
c.12462G>T (p.Glu4154Asp)
c.11955G>T (p.Glu3985Asp)
c.7422G>T (p.Glu2474Asp)
c.14160G>T (p.Glu4720Asp)
c.14109G>T (p.Glu4703Asp)
n.14670G>T
6g.152330519C>GCA366098596SYNE1c.14166G>C (p.Glu4722Asp)
c.13953G>C (p.Glu4651Asp)
c.13356G>C (p.Glu4452Asp)
c.-1753G>C (n.-1753G>C)
n.1512G>C
c.14187G>C (p.Glu4729Asp)
c.14136G>C (p.Glu4712Asp)
c.14115G>C (p.Glu4705Asp)
c.14031G>C (p.Glu4677Asp)
c.14028G>C (p.Glu4676Asp)
c.14022G>C (p.Glu4674Asp)
c.12462G>C (p.Glu4154Asp)
c.11955G>C (p.Glu3985Asp)
c.7422G>C (p.Glu2474Asp)
c.14160G>C (p.Glu4720Asp)
c.14109G>C (p.Glu4703Asp)
n.14670G>C
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330519C>TCA452970831SYNE1c.14166G>A (p.Glu4722=)
c.13953G>A (p.Glu4651=)
c.13356G>A (p.Glu4452=)
c.-1753G>A (n.-1753G>A)
n.1512G>A
c.14187G>A (p.Glu4729=)
c.14136G>A (p.Glu4712=)
c.14115G>A (p.Glu4705=)
c.14031G>A (p.Glu4677=)
c.14028G>A (p.Glu4676=)
c.14022G>A (p.Glu4674=)
c.12462G>A (p.Glu4154=)
c.11955G>A (p.Glu3985=)
c.7422G>A (p.Glu2474=)
c.14160G>A (p.Glu4720=)
c.14109G>A (p.Glu4703=)
n.14670G>A
6g.152330520T>ACA366098599SYNE1c.14165A>T (p.Glu4722Val)
c.13952A>T (p.Glu4651Val)
c.13355A>T (p.Glu4452Val)
c.-1754A>T (n.-1754A>T)
n.1511A>T
c.14186A>T (p.Glu4729Val)
c.14135A>T (p.Glu4712Val)
c.14114A>T (p.Glu4705Val)
c.14030A>T (p.Glu4677Val)
c.14027A>T (p.Glu4676Val)
c.14021A>T (p.Glu4674Val)
c.12461A>T (p.Glu4154Val)
c.11954A>T (p.Glu3985Val)
c.7421A>T (p.Glu2474Val)
c.14159A>T (p.Glu4720Val)
c.14108A>T (p.Glu4703Val)
n.14669A>T
6g.152330520T>CCA366098598SYNE1c.14165A>G (p.Glu4722Gly)
c.13952A>G (p.Glu4651Gly)
c.13355A>G (p.Glu4452Gly)
c.-1754A>G (n.-1754A>G)
n.1511A>G
c.14186A>G (p.Glu4729Gly)
c.14135A>G (p.Glu4712Gly)
c.14114A>G (p.Glu4705Gly)
c.14030A>G (p.Glu4677Gly)
c.14027A>G (p.Glu4676Gly)
c.14021A>G (p.Glu4674Gly)
c.12461A>G (p.Glu4154Gly)
c.11954A>G (p.Glu3985Gly)
c.7421A>G (p.Glu2474Gly)
c.14159A>G (p.Glu4720Gly)
c.14108A>G (p.Glu4703Gly)
n.14669A>G
6g.152330520T>GCA366098597SYNE1c.14165A>C (p.Glu4722Ala)
c.13952A>C (p.Glu4651Ala)
c.13355A>C (p.Glu4452Ala)
c.-1754A>C (n.-1754A>C)
n.1511A>C
c.14186A>C (p.Glu4729Ala)
c.14135A>C (p.Glu4712Ala)
c.14114A>C (p.Glu4705Ala)
c.14030A>C (p.Glu4677Ala)
c.14027A>C (p.Glu4676Ala)
c.14021A>C (p.Glu4674Ala)
c.12461A>C (p.Glu4154Ala)
c.11954A>C (p.Glu3985Ala)
c.7421A>C (p.Glu2474Ala)
c.14159A>C (p.Glu4720Ala)
c.14108A>C (p.Glu4703Ala)
n.14669A>C
6g.152330521C>ACA366098600SYNE1c.14164G>T (p.Glu4722Ter)
c.13951G>T (p.Glu4651Ter)
c.13354G>T (p.Glu4452Ter)
c.-1755G>T (n.-1755G>T)
n.1510G>T
c.14185G>T (p.Glu4729Ter)
c.14134G>T (p.Glu4712Ter)
c.14113G>T (p.Glu4705Ter)
c.14029G>T (p.Glu4677Ter)
c.14026G>T (p.Glu4676Ter)
c.14020G>T (p.Glu4674Ter)
c.12460G>T (p.Glu4154Ter)
c.11953G>T (p.Glu3985Ter)
c.7420G>T (p.Glu2474Ter)
c.14158G>T (p.Glu4720Ter)
c.14107G>T (p.Glu4703Ter)
n.14668G>T
6g.152330521C=CA1673273952SYNE1c.14164G= (p.Glu4722=)
c.13951G= (p.Glu4651=)
c.13354G= (p.Glu4452=)
c.-1755G= (n.-1755G=)
n.1510G=
c.14185G= (p.Glu4729=)
c.14134G= (p.Glu4712=)
c.14113G= (p.Glu4705=)
c.14029G= (p.Glu4677=)
c.14026G= (p.Glu4676=)
c.14020G= (p.Glu4674=)
c.12460G= (p.Glu4154=)
c.11953G= (p.Glu3985=)
c.7420G= (p.Glu2474=)
c.14158G= (p.Glu4720=)
c.14107G= (p.Glu4703=)
n.14668G=
6g.152330521C>GCA150176619SYNE1c.14164G>C (p.Glu4722Gln)
c.13951G>C (p.Glu4651Gln)
c.13354G>C (p.Glu4452Gln)
c.-1755G>C (n.-1755G>C)
n.1510G>C
c.14185G>C (p.Glu4729Gln)
c.14134G>C (p.Glu4712Gln)
c.14113G>C (p.Glu4705Gln)
c.14029G>C (p.Glu4677Gln)
c.14026G>C (p.Glu4676Gln)
c.14020G>C (p.Glu4674Gln)
c.12460G>C (p.Glu4154Gln)
c.11953G>C (p.Glu3985Gln)
c.7420G>C (p.Glu2474Gln)
c.14158G>C (p.Glu4720Gln)
c.14107G>C (p.Glu4703Gln)
n.14668G>C
 dbSNP
6g.152330521C>TCA4056059SYNE1c.14164G>A (p.Glu4722Lys)
c.13951G>A (p.Glu4651Lys)
c.13354G>A (p.Glu4452Lys)
c.-1755G>A (n.-1755G>A)
n.1510G>A
c.14185G>A (p.Glu4729Lys)
c.14134G>A (p.Glu4712Lys)
c.14113G>A (p.Glu4705Lys)
c.14029G>A (p.Glu4677Lys)
c.14026G>A (p.Glu4676Lys)
c.14020G>A (p.Glu4674Lys)
c.12460G>A (p.Glu4154Lys)
c.11953G>A (p.Glu3985Lys)
c.7420G>A (p.Glu2474Lys)
c.14158G>A (p.Glu4720Lys)
c.14107G>A (p.Glu4703Lys)
n.14668G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330522G>ACA4056060SYNE1c.14163C>T (p.Asp4721=)
c.13950C>T (p.Asp4650=)
c.13353C>T (p.Asp4451=)
c.-1756C>T (n.-1756C>T)
n.1509C>T
c.14184C>T (p.Asp4728=)
c.14133C>T (p.Asp4711=)
c.14112C>T (p.Asp4704=)
c.14028C>T (p.Asp4676=)
c.14025C>T (p.Asp4675=)
c.14019C>T (p.Asp4673=)
c.12459C>T (p.Asp4153=)
c.11952C>T (p.Asp3984=)
c.7419C>T (p.Asp2473=)
c.14157C>T (p.Asp4719=)
c.14106C>T (p.Asp4702=)
n.14667C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330522G>CCA366098601SYNE1c.14163C>G (p.Asp4721Glu)
c.13950C>G (p.Asp4650Glu)
c.13353C>G (p.Asp4451Glu)
c.-1756C>G (n.-1756C>G)
n.1509C>G
c.14184C>G (p.Asp4728Glu)
c.14133C>G (p.Asp4711Glu)
c.14112C>G (p.Asp4704Glu)
c.14028C>G (p.Asp4676Glu)
c.14025C>G (p.Asp4675Glu)
c.14019C>G (p.Asp4673Glu)
c.12459C>G (p.Asp4153Glu)
c.11952C>G (p.Asp3984Glu)
c.7419C>G (p.Asp2473Glu)
c.14157C>G (p.Asp4719Glu)
c.14106C>G (p.Asp4702Glu)
n.14667C>G
6g.152330522G=CA1673273963SYNE1c.14163C= (p.Asp4721=)
c.13950C= (p.Asp4650=)
c.13353C= (p.Asp4451=)
c.-1756C= (n.-1756C=)
n.1509C=
c.14184C= (p.Asp4728=)
c.14133C= (p.Asp4711=)
c.14112C= (p.Asp4704=)
c.14028C= (p.Asp4676=)
c.14025C= (p.Asp4675=)
c.14019C= (p.Asp4673=)
c.12459C= (p.Asp4153=)
c.11952C= (p.Asp3984=)
c.7419C= (p.Asp2473=)
c.14157C= (p.Asp4719=)
c.14106C= (p.Asp4702=)
n.14667C=
6g.152330522G>TCA150176622SYNE1c.14163C>A (p.Asp4721Glu)
c.13950C>A (p.Asp4650Glu)
c.13353C>A (p.Asp4451Glu)
c.-1756C>A (n.-1756C>A)
n.1509C>A
c.14184C>A (p.Asp4728Glu)
c.14133C>A (p.Asp4711Glu)
c.14112C>A (p.Asp4704Glu)
c.14028C>A (p.Asp4676Glu)
c.14025C>A (p.Asp4675Glu)
c.14019C>A (p.Asp4673Glu)
c.12459C>A (p.Asp4153Glu)
c.11952C>A (p.Asp3984Glu)
c.7419C>A (p.Asp2473Glu)
c.14157C>A (p.Asp4719Glu)
c.14106C>A (p.Asp4702Glu)
n.14667C>A
 dbSNP gnomAD v4
6g.152330523T>ACA366098602SYNE1c.14162A>T (p.Asp4721Val)
c.13949A>T (p.Asp4650Val)
c.13352A>T (p.Asp4451Val)
c.-1757A>T (n.-1757A>T)
n.1508A>T
c.14183A>T (p.Asp4728Val)
c.14132A>T (p.Asp4711Val)
c.14111A>T (p.Asp4704Val)
c.14027A>T (p.Asp4676Val)
c.14024A>T (p.Asp4675Val)
c.14018A>T (p.Asp4673Val)
c.12458A>T (p.Asp4153Val)
c.11951A>T (p.Asp3984Val)
c.7418A>T (p.Asp2473Val)
c.14156A>T (p.Asp4719Val)
c.14105A>T (p.Asp4702Val)
n.14666A>T
6g.152330523T>CCA366098604SYNE1c.14162A>G (p.Asp4721Gly)
c.13949A>G (p.Asp4650Gly)
c.13352A>G (p.Asp4451Gly)
c.-1757A>G (n.-1757A>G)
n.1508A>G
c.14183A>G (p.Asp4728Gly)
c.14132A>G (p.Asp4711Gly)
c.14111A>G (p.Asp4704Gly)
c.14027A>G (p.Asp4676Gly)
c.14024A>G (p.Asp4675Gly)
c.14018A>G (p.Asp4673Gly)
c.12458A>G (p.Asp4153Gly)
c.11951A>G (p.Asp3984Gly)
c.7418A>G (p.Asp2473Gly)
c.14156A>G (p.Asp4719Gly)
c.14105A>G (p.Asp4702Gly)
n.14666A>G
6g.152330523T>GCA366098603SYNE1c.14162A>C (p.Asp4721Ala)
c.13949A>C (p.Asp4650Ala)
c.13352A>C (p.Asp4451Ala)
c.-1757A>C (n.-1757A>C)
n.1508A>C
c.14183A>C (p.Asp4728Ala)
c.14132A>C (p.Asp4711Ala)
c.14111A>C (p.Asp4704Ala)
c.14027A>C (p.Asp4676Ala)
c.14024A>C (p.Asp4675Ala)
c.14018A>C (p.Asp4673Ala)
c.12458A>C (p.Asp4153Ala)
c.11951A>C (p.Asp3984Ala)
c.7418A>C (p.Asp2473Ala)
c.14156A>C (p.Asp4719Ala)
c.14105A>C (p.Asp4702Ala)
n.14666A>C
6g.152330524C>ACA366098605SYNE1c.14161G>T (p.Asp4721Tyr)
c.13948G>T (p.Asp4650Tyr)
c.13351G>T (p.Asp4451Tyr)
c.-1758G>T (n.-1758G>T)
n.1507G>T
c.14182G>T (p.Asp4728Tyr)
c.14131G>T (p.Asp4711Tyr)
c.14110G>T (p.Asp4704Tyr)
c.14026G>T (p.Asp4676Tyr)
c.14023G>T (p.Asp4675Tyr)
c.14017G>T (p.Asp4673Tyr)
c.12457G>T (p.Asp4153Tyr)
c.11950G>T (p.Asp3984Tyr)
c.7417G>T (p.Asp2473Tyr)
c.14155G>T (p.Asp4719Tyr)
c.14104G>T (p.Asp4702Tyr)
n.14665G>T
6g.152330524C=CA1673273970SYNE1c.14161G= (p.Asp4721=)
c.13948G= (p.Asp4650=)
c.13351G= (p.Asp4451=)
c.-1758G= (n.-1758G=)
n.1507G=
c.14182G= (p.Asp4728=)
c.14131G= (p.Asp4711=)
c.14110G= (p.Asp4704=)
c.14026G= (p.Asp4676=)
c.14023G= (p.Asp4675=)
c.14017G= (p.Asp4673=)
c.12457G= (p.Asp4153=)
c.11950G= (p.Asp3984=)
c.7417G= (p.Asp2473=)
c.14155G= (p.Asp4719=)
c.14104G= (p.Asp4702=)
n.14665G=
6g.152330524C>GCA366098606SYNE1c.14161G>C (p.Asp4721His)
c.13948G>C (p.Asp4650His)
c.13351G>C (p.Asp4451His)
c.-1758G>C (n.-1758G>C)
n.1507G>C
c.14182G>C (p.Asp4728His)
c.14131G>C (p.Asp4711His)
c.14110G>C (p.Asp4704His)
c.14026G>C (p.Asp4676His)
c.14023G>C (p.Asp4675His)
c.14017G>C (p.Asp4673His)
c.12457G>C (p.Asp4153His)
c.11950G>C (p.Asp3984His)
c.7417G>C (p.Asp2473His)
c.14155G>C (p.Asp4719His)
c.14104G>C (p.Asp4702His)
n.14665G>C
 gnomAD v4
6g.152330524C>TCA4056061SYNE1c.14161G>A (p.Asp4721Asn)
c.13948G>A (p.Asp4650Asn)
c.13351G>A (p.Asp4451Asn)
c.-1758G>A (n.-1758G>A)
n.1507G>A
c.14182G>A (p.Asp4728Asn)
c.14131G>A (p.Asp4711Asn)
c.14110G>A (p.Asp4704Asn)
c.14026G>A (p.Asp4676Asn)
c.14023G>A (p.Asp4675Asn)
c.14017G>A (p.Asp4673Asn)
c.12457G>A (p.Asp4153Asn)
c.11950G>A (p.Asp3984Asn)
c.7417G>A (p.Asp2473Asn)
c.14155G>A (p.Asp4719Asn)
c.14104G>A (p.Asp4702Asn)
n.14665G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152330525C>ACA452970834SYNE1c.14160G>T (p.Leu4720=)
c.13947G>T (p.Leu4649=)
c.13350G>T (p.Leu4450=)
c.-1759G>T (n.-1759G>T)
n.1506G>T
c.14181G>T (p.Leu4727=)
c.14130G>T (p.Leu4710=)
c.14109G>T (p.Leu4703=)
c.14025G>T (p.Leu4675=)
c.14022G>T (p.Leu4674=)
c.14016G>T (p.Leu4672=)
c.12456G>T (p.Leu4152=)
c.11949G>T (p.Leu3983=)
c.7416G>T (p.Leu2472=)
c.14154G>T (p.Leu4718=)
c.14103G>T (p.Leu4701=)
n.14664G>T
6g.152330525C>GCA452970835SYNE1c.14160G>C (p.Leu4720=)
c.13947G>C (p.Leu4649=)
c.13350G>C (p.Leu4450=)
c.-1759G>C (n.-1759G>C)
n.1506G>C
c.14181G>C (p.Leu4727=)
c.14130G>C (p.Leu4710=)
c.14109G>C (p.Leu4703=)
c.14025G>C (p.Leu4675=)
c.14022G>C (p.Leu4674=)
c.14016G>C (p.Leu4672=)
c.12456G>C (p.Leu4152=)
c.11949G>C (p.Leu3983=)
c.7416G>C (p.Leu2472=)
c.14154G>C (p.Leu4718=)
c.14103G>C (p.Leu4701=)
n.14664G>C
6g.152330525C>TCA452970836SYNE1c.14160G>A (p.Leu4720=)
c.13947G>A (p.Leu4649=)
c.13350G>A (p.Leu4450=)
c.-1759G>A (n.-1759G>A)
n.1506G>A
c.14181G>A (p.Leu4727=)
c.14130G>A (p.Leu4710=)
c.14109G>A (p.Leu4703=)
c.14025G>A (p.Leu4675=)
c.14022G>A (p.Leu4674=)
c.14016G>A (p.Leu4672=)
c.12456G>A (p.Leu4152=)
c.11949G>A (p.Leu3983=)
c.7416G>A (p.Leu2472=)
c.14154G>A (p.Leu4718=)
c.14103G>A (p.Leu4701=)
n.14664G>A
6g.152330526A>CCA366098607SYNE1c.14159T>G (p.Leu4720Arg)
c.13946T>G (p.Leu4649Arg)
c.13349T>G (p.Leu4450Arg)
c.-1760T>G (n.-1760T>G)
n.1505T>G
c.14180T>G (p.Leu4727Arg)
c.14129T>G (p.Leu4710Arg)
c.14108T>G (p.Leu4703Arg)
c.14024T>G (p.Leu4675Arg)
c.14021T>G (p.Leu4674Arg)
c.14015T>G (p.Leu4672Arg)
c.12455T>G (p.Leu4152Arg)
c.11948T>G (p.Leu3983Arg)
c.7415T>G (p.Leu2472Arg)
c.14153T>G (p.Leu4718Arg)
c.14102T>G (p.Leu4701Arg)
n.14663T>G
6g.152330526A>GCA366098608SYNE1c.14159T>C (p.Leu4720Pro)
c.13946T>C (p.Leu4649Pro)
c.13349T>C (p.Leu4450Pro)
c.-1760T>C (n.-1760T>C)
n.1505T>C
c.14180T>C (p.Leu4727Pro)
c.14129T>C (p.Leu4710Pro)
c.14108T>C (p.Leu4703Pro)
c.14024T>C (p.Leu4675Pro)
c.14021T>C (p.Leu4674Pro)
c.14015T>C (p.Leu4672Pro)
c.12455T>C (p.Leu4152Pro)
c.11948T>C (p.Leu3983Pro)
c.7415T>C (p.Leu2472Pro)
c.14153T>C (p.Leu4718Pro)
c.14102T>C (p.Leu4701Pro)
n.14663T>C
6g.152330526A>TCA366098609SYNE1c.14159T>A (p.Leu4720Gln)
c.13946T>A (p.Leu4649Gln)
c.13349T>A (p.Leu4450Gln)
c.-1760T>A (n.-1760T>A)
n.1505T>A
c.14180T>A (p.Leu4727Gln)
c.14129T>A (p.Leu4710Gln)
c.14108T>A (p.Leu4703Gln)
c.14024T>A (p.Leu4675Gln)
c.14021T>A (p.Leu4674Gln)
c.14015T>A (p.Leu4672Gln)
c.12455T>A (p.Leu4152Gln)
c.11948T>A (p.Leu3983Gln)
c.7415T>A (p.Leu2472Gln)
c.14153T>A (p.Leu4718Gln)
c.14102T>A (p.Leu4701Gln)
n.14663T>A
6g.152330527G>ACA452970838SYNE1c.14158C>T (p.Leu4720=)
c.13945C>T (p.Leu4649=)
c.13348C>T (p.Leu4450=)
c.-1761C>T (n.-1761C>T)
n.1504C>T
c.14179C>T (p.Leu4727=)
c.14128C>T (p.Leu4710=)
c.14107C>T (p.Leu4703=)
c.14023C>T (p.Leu4675=)
c.14020C>T (p.Leu4674=)
c.14014C>T (p.Leu4672=)
c.12454C>T (p.Leu4152=)
c.11947C>T (p.Leu3983=)
c.7414C>T (p.Leu2472=)
c.14152C>T (p.Leu4718=)
c.14101C>T (p.Leu4701=)
n.14662C>T
6g.152330527G>CCA366098610SYNE1c.14158C>G (p.Leu4720Val)
c.13945C>G (p.Leu4649Val)
c.13348C>G (p.Leu4450Val)
c.-1761C>G (n.-1761C>G)
n.1504C>G
c.14179C>G (p.Leu4727Val)
c.14128C>G (p.Leu4710Val)
c.14107C>G (p.Leu4703Val)
c.14023C>G (p.Leu4675Val)
c.14020C>G (p.Leu4674Val)
c.14014C>G (p.Leu4672Val)
c.12454C>G (p.Leu4152Val)
c.11947C>G (p.Leu3983Val)
c.7414C>G (p.Leu2472Val)
c.14152C>G (p.Leu4718Val)
c.14101C>G (p.Leu4701Val)
n.14662C>G
6g.152330527G>TCA366098611SYNE1c.14158C>A (p.Leu4720Met)
c.13945C>A (p.Leu4649Met)
c.13348C>A (p.Leu4450Met)
c.-1761C>A (n.-1761C>A)
n.1504C>A
c.14179C>A (p.Leu4727Met)
c.14128C>A (p.Leu4710Met)
c.14107C>A (p.Leu4703Met)
c.14023C>A (p.Leu4675Met)
c.14020C>A (p.Leu4674Met)
c.14014C>A (p.Leu4672Met)
c.12454C>A (p.Leu4152Met)
c.11947C>A (p.Leu3983Met)
c.7414C>A (p.Leu2472Met)
c.14152C>A (p.Leu4718Met)
c.14101C>A (p.Leu4701Met)
n.14662C>A
6g.152330528A>CCA366098612SYNE1c.14157T>G (p.Ile4719Met)
c.13944T>G (p.Ile4648Met)
c.13347T>G (p.Ile4449Met)
c.-1762T>G (n.-1762T>G)
n.1503T>G
c.14178T>G (p.Ile4726Met)
c.14127T>G (p.Ile4709Met)
c.14106T>G (p.Ile4702Met)
c.14022T>G (p.Ile4674Met)
c.14019T>G (p.Ile4673Met)
c.14013T>G (p.Ile4671Met)
c.12453T>G (p.Ile4151Met)
c.11946T>G (p.Ile3982Met)
c.7413T>G (p.Ile2471Met)
c.14151T>G (p.Ile4717Met)
c.14100T>G (p.Ile4700Met)
n.14661T>G
6g.152330528A>GCA452970840SYNE1c.14157T>C (p.Ile4719=)
c.13944T>C (p.Ile4648=)
c.13347T>C (p.Ile4449=)
c.-1762T>C (n.-1762T>C)
n.1503T>C
c.14178T>C (p.Ile4726=)
c.14127T>C (p.Ile4709=)
c.14106T>C (p.Ile4702=)
c.14022T>C (p.Ile4674=)
c.14019T>C (p.Ile4673=)
c.14013T>C (p.Ile4671=)
c.12453T>C (p.Ile4151=)
c.11946T>C (p.Ile3982=)
c.7413T>C (p.Ile2471=)
c.14151T>C (p.Ile4717=)
c.14100T>C (p.Ile4700=)
n.14661T>C
6g.152330528A>TCA452970841SYNE1c.14157T>A (p.Ile4719=)
c.13944T>A (p.Ile4648=)
c.13347T>A (p.Ile4449=)
c.-1762T>A (n.-1762T>A)
n.1503T>A
c.14178T>A (p.Ile4726=)
c.14127T>A (p.Ile4709=)
c.14106T>A (p.Ile4702=)
c.14022T>A (p.Ile4674=)
c.14019T>A (p.Ile4673=)
c.14013T>A (p.Ile4671=)
c.12453T>A (p.Ile4151=)
c.11946T>A (p.Ile3982=)
c.7413T>A (p.Ile2471=)
c.14151T>A (p.Ile4717=)
c.14100T>A (p.Ile4700=)
n.14661T>A
6g.152330529A>CCA366098613SYNE1c.14156T>G (p.Ile4719Ser)
c.13943T>G (p.Ile4648Ser)
c.13346T>G (p.Ile4449Ser)
c.-1763T>G (n.-1763T>G)
n.1502T>G
c.14177T>G (p.Ile4726Ser)
c.14126T>G (p.Ile4709Ser)
c.14105T>G (p.Ile4702Ser)
c.14021T>G (p.Ile4674Ser)
c.14018T>G (p.Ile4673Ser)
c.14012T>G (p.Ile4671Ser)
c.12452T>G (p.Ile4151Ser)
c.11945T>G (p.Ile3982Ser)
c.7412T>G (p.Ile2471Ser)
c.14150T>G (p.Ile4717Ser)
c.14099T>G (p.Ile4700Ser)
n.14660T>G
6g.152330529A>GCA366098614SYNE1c.14156T>C (p.Ile4719Thr)
c.13943T>C (p.Ile4648Thr)
c.13346T>C (p.Ile4449Thr)
c.-1763T>C (n.-1763T>C)
n.1502T>C
c.14177T>C (p.Ile4726Thr)
c.14126T>C (p.Ile4709Thr)
c.14105T>C (p.Ile4702Thr)
c.14021T>C (p.Ile4674Thr)
c.14018T>C (p.Ile4673Thr)
c.14012T>C (p.Ile4671Thr)
c.12452T>C (p.Ile4151Thr)
c.11945T>C (p.Ile3982Thr)
c.7412T>C (p.Ile2471Thr)
c.14150T>C (p.Ile4717Thr)
c.14099T>C (p.Ile4700Thr)
n.14660T>C
6g.152330529A>TCA366098615SYNE1c.14156T>A (p.Ile4719Asn)
c.13943T>A (p.Ile4648Asn)
c.13346T>A (p.Ile4449Asn)
c.-1763T>A (n.-1763T>A)
n.1502T>A
c.14177T>A (p.Ile4726Asn)
c.14126T>A (p.Ile4709Asn)
c.14105T>A (p.Ile4702Asn)
c.14021T>A (p.Ile4674Asn)
c.14018T>A (p.Ile4673Asn)
c.14012T>A (p.Ile4671Asn)
c.12452T>A (p.Ile4151Asn)
c.11945T>A (p.Ile3982Asn)
c.7412T>A (p.Ile2471Asn)
c.14150T>A (p.Ile4717Asn)
c.14099T>A (p.Ile4700Asn)
n.14660T>A
6g.152330530T>ACA366098617SYNE1c.14155A>T (p.Ile4719Phe)
c.13942A>T (p.Ile4648Phe)
c.13345A>T (p.Ile4449Phe)
c.-1764A>T (n.-1764A>T)
n.1501A>T
c.14176A>T (p.Ile4726Phe)
c.14125A>T (p.Ile4709Phe)
c.14104A>T (p.Ile4702Phe)
c.14020A>T (p.Ile4674Phe)
c.14017A>T (p.Ile4673Phe)
c.14011A>T (p.Ile4671Phe)
c.12451A>T (p.Ile4151Phe)
c.11944A>T (p.Ile3982Phe)
c.7411A>T (p.Ile2471Phe)
c.14149A>T (p.Ile4717Phe)
c.14098A>T (p.Ile4700Phe)
n.14659A>T
6g.152330530T>CCA366098618SYNE1c.14155A>G (p.Ile4719Val)
c.13942A>G (p.Ile4648Val)
c.13345A>G (p.Ile4449Val)
c.-1764A>G (n.-1764A>G)
n.1501A>G
c.14176A>G (p.Ile4726Val)
c.14125A>G (p.Ile4709Val)
c.14104A>G (p.Ile4702Val)
c.14020A>G (p.Ile4674Val)
c.14017A>G (p.Ile4673Val)
c.14011A>G (p.Ile4671Val)
c.12451A>G (p.Ile4151Val)
c.11944A>G (p.Ile3982Val)
c.7411A>G (p.Ile2471Val)
c.14149A>G (p.Ile4717Val)
c.14098A>G (p.Ile4700Val)
n.14659A>G
 gnomAD v4
6g.152330530T>GCA366098616SYNE1c.14155A>C (p.Ile4719Leu)
c.13942A>C (p.Ile4648Leu)
c.13345A>C (p.Ile4449Leu)
c.-1764A>C (n.-1764A>C)
n.1501A>C
c.14176A>C (p.Ile4726Leu)
c.14125A>C (p.Ile4709Leu)
c.14104A>C (p.Ile4702Leu)
c.14020A>C (p.Ile4674Leu)
c.14017A>C (p.Ile4673Leu)
c.14011A>C (p.Ile4671Leu)
c.12451A>C (p.Ile4151Leu)
c.11944A>C (p.Ile3982Leu)
c.7411A>C (p.Ile2471Leu)
c.14149A>C (p.Ile4717Leu)
c.14098A>C (p.Ile4700Leu)
n.14659A>C
6g.152330531G>ACA452970842SYNE1c.14154C>T (p.Ala4718=)
c.13941C>T (p.Ala4647=)
c.13344C>T (p.Ala4448=)
c.-1765C>T (n.-1765C>T)
n.1500C>T
c.14175C>T (p.Ala4725=)
c.14124C>T (p.Ala4708=)
c.14103C>T (p.Ala4701=)
c.14019C>T (p.Ala4673=)
c.14016C>T (p.Ala4672=)
c.14010C>T (p.Ala4670=)
c.12450C>T (p.Ala4150=)
c.11943C>T (p.Ala3981=)
c.7410C>T (p.Ala2470=)
c.14148C>T (p.Ala4716=)
c.14097C>T (p.Ala4699=)
n.14658C>T
6g.152330531G>CCA452970843SYNE1c.14154C>G (p.Ala4718=)
c.13941C>G (p.Ala4647=)
c.13344C>G (p.Ala4448=)
c.-1765C>G (n.-1765C>G)
n.1500C>G
c.14175C>G (p.Ala4725=)
c.14124C>G (p.Ala4708=)
c.14103C>G (p.Ala4701=)
c.14019C>G (p.Ala4673=)
c.14016C>G (p.Ala4672=)
c.14010C>G (p.Ala4670=)
c.12450C>G (p.Ala4150=)
c.11943C>G (p.Ala3981=)
c.7410C>G (p.Ala2470=)
c.14148C>G (p.Ala4716=)
c.14097C>G (p.Ala4699=)
n.14658C>G
6g.152330531G>TCA452970844SYNE1c.14154C>A (p.Ala4718=)
c.13941C>A (p.Ala4647=)
c.13344C>A (p.Ala4448=)
c.-1765C>A (n.-1765C>A)
n.1500C>A
c.14175C>A (p.Ala4725=)
c.14124C>A (p.Ala4708=)
c.14103C>A (p.Ala4701=)
c.14019C>A (p.Ala4673=)
c.14016C>A (p.Ala4672=)
c.14010C>A (p.Ala4670=)
c.12450C>A (p.Ala4150=)
c.11943C>A (p.Ala3981=)
c.7410C>A (p.Ala2470=)
c.14148C>A (p.Ala4716=)
c.14097C>A (p.Ala4699=)
n.14658C>A
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330532G>ACA366098621SYNE1c.14153C>T (p.Ala4718Val)
c.13940C>T (p.Ala4647Val)
c.13343C>T (p.Ala4448Val)
c.-1766C>T (n.-1766C>T)
n.1499C>T
c.14174C>T (p.Ala4725Val)
c.14123C>T (p.Ala4708Val)
c.14102C>T (p.Ala4701Val)
c.14018C>T (p.Ala4673Val)
c.14015C>T (p.Ala4672Val)
c.14009C>T (p.Ala4670Val)
c.12449C>T (p.Ala4150Val)
c.11942C>T (p.Ala3981Val)
c.7409C>T (p.Ala2470Val)
c.14147C>T (p.Ala4716Val)
c.14096C>T (p.Ala4699Val)
n.14657C>T
6g.152330532G>CCA366098619SYNE1c.14153C>G (p.Ala4718Gly)
c.13940C>G (p.Ala4647Gly)
c.13343C>G (p.Ala4448Gly)
c.-1766C>G (n.-1766C>G)
n.1499C>G
c.14174C>G (p.Ala4725Gly)
c.14123C>G (p.Ala4708Gly)
c.14102C>G (p.Ala4701Gly)
c.14018C>G (p.Ala4673Gly)
c.14015C>G (p.Ala4672Gly)
c.14009C>G (p.Ala4670Gly)
c.12449C>G (p.Ala4150Gly)
c.11942C>G (p.Ala3981Gly)
c.7409C>G (p.Ala2470Gly)
c.14147C>G (p.Ala4716Gly)
c.14096C>G (p.Ala4699Gly)
n.14657C>G
6g.152330532G=CA1673273975SYNE1c.14153C= (p.Ala4718=)
c.13940C= (p.Ala4647=)
c.13343C= (p.Ala4448=)
c.-1766C= (n.-1766C=)
n.1499C=
c.14174C= (p.Ala4725=)
c.14123C= (p.Ala4708=)
c.14102C= (p.Ala4701=)
c.14018C= (p.Ala4673=)
c.14015C= (p.Ala4672=)
c.14009C= (p.Ala4670=)
c.12449C= (p.Ala4150=)
c.11942C= (p.Ala3981=)
c.7409C= (p.Ala2470=)
c.14147C= (p.Ala4716=)
c.14096C= (p.Ala4699=)
n.14657C=
6g.152330532G>TCA366098620SYNE1c.14153C>A (p.Ala4718Asp)
c.13940C>A (p.Ala4647Asp)
c.13343C>A (p.Ala4448Asp)
c.-1766C>A (n.-1766C>A)
n.1499C>A
c.14174C>A (p.Ala4725Asp)
c.14123C>A (p.Ala4708Asp)
c.14102C>A (p.Ala4701Asp)
c.14018C>A (p.Ala4673Asp)
c.14015C>A (p.Ala4672Asp)
c.14009C>A (p.Ala4670Asp)
c.12449C>A (p.Ala4150Asp)
c.11942C>A (p.Ala3981Asp)
c.7409C>A (p.Ala2470Asp)
c.14147C>A (p.Ala4716Asp)
c.14096C>A (p.Ala4699Asp)
n.14657C>A
 dbSNP gnomAD v4
6g.152330533C>ACA366098622SYNE1c.14152G>T (p.Ala4718Ser)
c.13939G>T (p.Ala4647Ser)
c.13342G>T (p.Ala4448Ser)
c.-1767G>T (n.-1767G>T)
n.1498G>T
c.14173G>T (p.Ala4725Ser)
c.14122G>T (p.Ala4708Ser)
c.14101G>T (p.Ala4701Ser)
c.14017G>T (p.Ala4673Ser)
c.14014G>T (p.Ala4672Ser)
c.14008G>T (p.Ala4670Ser)
c.12448G>T (p.Ala4150Ser)
c.11941G>T (p.Ala3981Ser)
c.7408G>T (p.Ala2470Ser)
c.14146G>T (p.Ala4716Ser)
c.14095G>T (p.Ala4699Ser)
n.14656G>T
6g.152330533C=CA1673273989SYNE1c.14152G= (p.Ala4718=)
c.13939G= (p.Ala4647=)
c.13342G= (p.Ala4448=)
c.-1767G= (n.-1767G=)
n.1498G=
c.14173G= (p.Ala4725=)
c.14122G= (p.Ala4708=)
c.14101G= (p.Ala4701=)
c.14017G= (p.Ala4673=)
c.14014G= (p.Ala4672=)
c.14008G= (p.Ala4670=)
c.12448G= (p.Ala4150=)
c.11941G= (p.Ala3981=)
c.7408G= (p.Ala2470=)
c.14146G= (p.Ala4716=)
c.14095G= (p.Ala4699=)
n.14656G=
6g.152330533C>GCA366098623SYNE1c.14152G>C (p.Ala4718Pro)
c.13939G>C (p.Ala4647Pro)
c.13342G>C (p.Ala4448Pro)
c.-1767G>C (n.-1767G>C)
n.1498G>C
c.14173G>C (p.Ala4725Pro)
c.14122G>C (p.Ala4708Pro)
c.14101G>C (p.Ala4701Pro)
c.14017G>C (p.Ala4673Pro)
c.14014G>C (p.Ala4672Pro)
c.14008G>C (p.Ala4670Pro)
c.12448G>C (p.Ala4150Pro)
c.11941G>C (p.Ala3981Pro)
c.7408G>C (p.Ala2470Pro)
c.14146G>C (p.Ala4716Pro)
c.14095G>C (p.Ala4699Pro)
n.14656G>C
6g.152330533C>TCA4056062SYNE1c.14152G>A (p.Ala4718Thr)
c.13939G>A (p.Ala4647Thr)
c.13342G>A (p.Ala4448Thr)
c.-1767G>A (n.-1767G>A)
n.1498G>A
c.14173G>A (p.Ala4725Thr)
c.14122G>A (p.Ala4708Thr)
c.14101G>A (p.Ala4701Thr)
c.14017G>A (p.Ala4673Thr)
c.14014G>A (p.Ala4672Thr)
c.14008G>A (p.Ala4670Thr)
c.12448G>A (p.Ala4150Thr)
c.11941G>A (p.Ala3981Thr)
c.7408G>A (p.Ala2470Thr)
c.14146G>A (p.Ala4716Thr)
c.14095G>A (p.Ala4699Thr)
n.14656G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330534T>ACA366098624SYNE1c.14151A>T (p.Arg4717Ser)
c.13938A>T (p.Arg4646Ser)
c.13341A>T (p.Arg4447Ser)
c.-1768A>T (n.-1768A>T)
n.1497A>T
c.14172A>T (p.Arg4724Ser)
c.14121A>T (p.Arg4707Ser)
c.14100A>T (p.Arg4700Ser)
c.14016A>T (p.Arg4672Ser)
c.14013A>T (p.Arg4671Ser)
c.14007A>T (p.Arg4669Ser)
c.12447A>T (p.Arg4149Ser)
c.11940A>T (p.Arg3980Ser)
c.7407A>T (p.Arg2469Ser)
c.14145A>T (p.Arg4715Ser)
c.14094A>T (p.Arg4698Ser)
n.14655A>T
6g.152330534T>CCA452970848SYNE1c.14151A>G (p.Arg4717=)
c.13938A>G (p.Arg4646=)
c.13341A>G (p.Arg4447=)
c.-1768A>G (n.-1768A>G)
n.1497A>G
c.14172A>G (p.Arg4724=)
c.14121A>G (p.Arg4707=)
c.14100A>G (p.Arg4700=)
c.14016A>G (p.Arg4672=)
c.14013A>G (p.Arg4671=)
c.14007A>G (p.Arg4669=)
c.12447A>G (p.Arg4149=)
c.11940A>G (p.Arg3980=)
c.7407A>G (p.Arg2469=)
c.14145A>G (p.Arg4715=)
c.14094A>G (p.Arg4698=)
n.14655A>G
6g.152330534T>GCA366098625SYNE1c.14151A>C (p.Arg4717Ser)
c.13938A>C (p.Arg4646Ser)
c.13341A>C (p.Arg4447Ser)
c.-1768A>C (n.-1768A>C)
n.1497A>C
c.14172A>C (p.Arg4724Ser)
c.14121A>C (p.Arg4707Ser)
c.14100A>C (p.Arg4700Ser)
c.14016A>C (p.Arg4672Ser)
c.14013A>C (p.Arg4671Ser)
c.14007A>C (p.Arg4669Ser)
c.12447A>C (p.Arg4149Ser)
c.11940A>C (p.Arg3980Ser)
c.7407A>C (p.Arg2469Ser)
c.14145A>C (p.Arg4715Ser)
c.14094A>C (p.Arg4698Ser)
n.14655A>C
6g.152330535C>ACA366098626SYNE1c.14150G>T (p.Arg4717Ile)
c.13937G>T (p.Arg4646Ile)
c.13340G>T (p.Arg4447Ile)
c.-1769G>T (n.-1769G>T)
n.1496G>T
c.14171G>T (p.Arg4724Ile)
c.14120G>T (p.Arg4707Ile)
c.14099G>T (p.Arg4700Ile)
c.14015G>T (p.Arg4672Ile)
c.14012G>T (p.Arg4671Ile)
c.14006G>T (p.Arg4669Ile)
c.12446G>T (p.Arg4149Ile)
c.11939G>T (p.Arg3980Ile)
c.7406G>T (p.Arg2469Ile)
c.14144G>T (p.Arg4715Ile)
c.14093G>T (p.Arg4698Ile)
n.14654G>T
6g.152330535C=CA1673273995SYNE1c.14150G= (p.Arg4717=)
c.13937G= (p.Arg4646=)
c.13340G= (p.Arg4447=)
c.-1769G= (n.-1769G=)
n.1496G=
c.14171G= (p.Arg4724=)
c.14120G= (p.Arg4707=)
c.14099G= (p.Arg4700=)
c.14015G= (p.Arg4672=)
c.14012G= (p.Arg4671=)
c.14006G= (p.Arg4669=)
c.12446G= (p.Arg4149=)
c.11939G= (p.Arg3980=)
c.7406G= (p.Arg2469=)
c.14144G= (p.Arg4715=)
c.14093G= (p.Arg4698=)
n.14654G=
6g.152330535C>GCA366098627SYNE1c.14150G>C (p.Arg4717Thr)
c.13937G>C (p.Arg4646Thr)
c.13340G>C (p.Arg4447Thr)
c.-1769G>C (n.-1769G>C)
n.1496G>C
c.14171G>C (p.Arg4724Thr)
c.14120G>C (p.Arg4707Thr)
c.14099G>C (p.Arg4700Thr)
c.14015G>C (p.Arg4672Thr)
c.14012G>C (p.Arg4671Thr)
c.14006G>C (p.Arg4669Thr)
c.12446G>C (p.Arg4149Thr)
c.11939G>C (p.Arg3980Thr)
c.7406G>C (p.Arg2469Thr)
c.14144G>C (p.Arg4715Thr)
c.14093G>C (p.Arg4698Thr)
n.14654G>C
6g.152330535C>TCA366098628SYNE1c.14150G>A (p.Arg4717Lys)
c.13937G>A (p.Arg4646Lys)
c.13340G>A (p.Arg4447Lys)
c.-1769G>A (n.-1769G>A)
n.1496G>A
c.14171G>A (p.Arg4724Lys)
c.14120G>A (p.Arg4707Lys)
c.14099G>A (p.Arg4700Lys)
c.14015G>A (p.Arg4672Lys)
c.14012G>A (p.Arg4671Lys)
c.14006G>A (p.Arg4669Lys)
c.12446G>A (p.Arg4149Lys)
c.11939G>A (p.Arg3980Lys)
c.7406G>A (p.Arg2469Lys)
c.14144G>A (p.Arg4715Lys)
c.14093G>A (p.Arg4698Lys)
n.14654G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152330536T>ACA366098629SYNE1c.14149A>T (p.Arg4717Ter)
c.13936A>T (p.Arg4646Ter)
c.13339A>T (p.Arg4447Ter)
c.-1770A>T (n.-1770A>T)
n.1495A>T
c.14170A>T (p.Arg4724Ter)
c.14119A>T (p.Arg4707Ter)
c.14098A>T (p.Arg4700Ter)
c.14014A>T (p.Arg4672Ter)
c.14011A>T (p.Arg4671Ter)
c.14005A>T (p.Arg4669Ter)
c.12445A>T (p.Arg4149Ter)
c.11938A>T (p.Arg3980Ter)
c.7405A>T (p.Arg2469Ter)
c.14143A>T (p.Arg4715Ter)
c.14092A>T (p.Arg4698Ter)
n.14653A>T
6g.152330536T>CCA150176677SYNE1c.14149A>G (p.Arg4717Gly)
c.13936A>G (p.Arg4646Gly)
c.13339A>G (p.Arg4447Gly)
c.-1770A>G (n.-1770A>G)
n.1495A>G
c.14170A>G (p.Arg4724Gly)
c.14119A>G (p.Arg4707Gly)
c.14098A>G (p.Arg4700Gly)
c.14014A>G (p.Arg4672Gly)
c.14011A>G (p.Arg4671Gly)
c.14005A>G (p.Arg4669Gly)
c.12445A>G (p.Arg4149Gly)
c.11938A>G (p.Arg3980Gly)
c.7405A>G (p.Arg2469Gly)
c.14143A>G (p.Arg4715Gly)
c.14092A>G (p.Arg4698Gly)
n.14653A>G
 dbSNP gnomAD v3 gnomAD v4
6g.152330536T>GCA452970851SYNE1c.14149A>C (p.Arg4717=)
c.13936A>C (p.Arg4646=)
c.13339A>C (p.Arg4447=)
c.-1770A>C (n.-1770A>C)
n.1495A>C
c.14170A>C (p.Arg4724=)
c.14119A>C (p.Arg4707=)
c.14098A>C (p.Arg4700=)
c.14014A>C (p.Arg4672=)
c.14011A>C (p.Arg4671=)
c.14005A>C (p.Arg4669=)
c.12445A>C (p.Arg4149=)
c.11938A>C (p.Arg3980=)
c.7405A>C (p.Arg2469=)
c.14143A>C (p.Arg4715=)
c.14092A>C (p.Arg4698=)
n.14653A>C
6g.152330536T=CA1673273999SYNE1c.14149A= (p.Arg4717=)
c.13936A= (p.Arg4646=)
c.13339A= (p.Arg4447=)
c.-1770A= (n.-1770A=)
n.1495A=
c.14170A= (p.Arg4724=)
c.14119A= (p.Arg4707=)
c.14098A= (p.Arg4700=)
c.14014A= (p.Arg4672=)
c.14011A= (p.Arg4671=)
c.14005A= (p.Arg4669=)
c.12445A= (p.Arg4149=)
c.11938A= (p.Arg3980=)
c.7405A= (p.Arg2469=)
c.14143A= (p.Arg4715=)
c.14092A= (p.Arg4698=)
n.14653A=
6g.152330537G>ACA452970852SYNE1c.14148C>T (p.Cys4716=)
c.13935C>T (p.Cys4645=)
c.13338C>T (p.Cys4446=)
c.-1771C>T (n.-1771C>T)
n.1494C>T
c.14169C>T (p.Cys4723=)
c.14118C>T (p.Cys4706=)
c.14097C>T (p.Cys4699=)
c.14013C>T (p.Cys4671=)
c.14010C>T (p.Cys4670=)
c.14004C>T (p.Cys4668=)
c.12444C>T (p.Cys4148=)
c.11937C>T (p.Cys3979=)
c.7404C>T (p.Cys2468=)
c.14142C>T (p.Cys4714=)
c.14091C>T (p.Cys4697=)
n.14652C>T
 dbSNP gnomAD v2 gnomAD v4
6g.152330537G>CCA366098630SYNE1c.14148C>G (p.Cys4716Trp)
c.13935C>G (p.Cys4645Trp)
c.13338C>G (p.Cys4446Trp)
c.-1771C>G (n.-1771C>G)
n.1494C>G
c.14169C>G (p.Cys4723Trp)
c.14118C>G (p.Cys4706Trp)
c.14097C>G (p.Cys4699Trp)
c.14013C>G (p.Cys4671Trp)
c.14010C>G (p.Cys4670Trp)
c.14004C>G (p.Cys4668Trp)
c.12444C>G (p.Cys4148Trp)
c.11937C>G (p.Cys3979Trp)
c.7404C>G (p.Cys2468Trp)
c.14142C>G (p.Cys4714Trp)
c.14091C>G (p.Cys4697Trp)
n.14652C>G
6g.152330537G=CA1673274003SYNE1c.14148C= (p.Cys4716=)
c.13935C= (p.Cys4645=)
c.13338C= (p.Cys4446=)
c.-1771C= (n.-1771C=)
n.1494C=
c.14169C= (p.Cys4723=)
c.14118C= (p.Cys4706=)
c.14097C= (p.Cys4699=)
c.14013C= (p.Cys4671=)
c.14010C= (p.Cys4670=)
c.14004C= (p.Cys4668=)
c.12444C= (p.Cys4148=)
c.11937C= (p.Cys3979=)
c.7404C= (p.Cys2468=)
c.14142C= (p.Cys4714=)
c.14091C= (p.Cys4697=)
n.14652C=
6g.152330537G>TCA366098631SYNE1c.14148C>A (p.Cys4716Ter)
c.13935C>A (p.Cys4645Ter)
c.13338C>A (p.Cys4446Ter)
c.-1771C>A (n.-1771C>A)
n.1494C>A
c.14169C>A (p.Cys4723Ter)
c.14118C>A (p.Cys4706Ter)
c.14097C>A (p.Cys4699Ter)
c.14013C>A (p.Cys4671Ter)
c.14010C>A (p.Cys4670Ter)
c.14004C>A (p.Cys4668Ter)
c.12444C>A (p.Cys4148Ter)
c.11937C>A (p.Cys3979Ter)
c.7404C>A (p.Cys2468Ter)
c.14142C>A (p.Cys4714Ter)
c.14091C>A (p.Cys4697Ter)
n.14652C>A
6g.152330538C>ACA366098634SYNE1c.14147G>T (p.Cys4716Phe)
c.13934G>T (p.Cys4645Phe)
c.13337G>T (p.Cys4446Phe)
c.-1772G>T (n.-1772G>T)
n.1493G>T
c.14168G>T (p.Cys4723Phe)
c.14117G>T (p.Cys4706Phe)
c.14096G>T (p.Cys4699Phe)
c.14012G>T (p.Cys4671Phe)
c.14009G>T (p.Cys4670Phe)
c.14003G>T (p.Cys4668Phe)
c.12443G>T (p.Cys4148Phe)
c.11936G>T (p.Cys3979Phe)
c.7403G>T (p.Cys2468Phe)
c.14141G>T (p.Cys4714Phe)
c.14090G>T (p.Cys4697Phe)
n.14651G>T
6g.152330538C=CA1673274007SYNE1c.14147G= (p.Cys4716=)
c.13934G= (p.Cys4645=)
c.13337G= (p.Cys4446=)
c.-1772G= (n.-1772G=)
n.1493G=
c.14168G= (p.Cys4723=)
c.14117G= (p.Cys4706=)
c.14096G= (p.Cys4699=)
c.14012G= (p.Cys4671=)
c.14009G= (p.Cys4670=)
c.14003G= (p.Cys4668=)
c.12443G= (p.Cys4148=)
c.11936G= (p.Cys3979=)
c.7403G= (p.Cys2468=)
c.14141G= (p.Cys4714=)
c.14090G= (p.Cys4697=)
n.14651G=
6g.152330538C>GCA366098633SYNE1c.14147G>C (p.Cys4716Ser)
c.13934G>C (p.Cys4645Ser)
c.13337G>C (p.Cys4446Ser)
c.-1772G>C (n.-1772G>C)
n.1493G>C
c.14168G>C (p.Cys4723Ser)
c.14117G>C (p.Cys4706Ser)
c.14096G>C (p.Cys4699Ser)
c.14012G>C (p.Cys4671Ser)
c.14009G>C (p.Cys4670Ser)
c.14003G>C (p.Cys4668Ser)
c.12443G>C (p.Cys4148Ser)
c.11936G>C (p.Cys3979Ser)
c.7403G>C (p.Cys2468Ser)
c.14141G>C (p.Cys4714Ser)
c.14090G>C (p.Cys4697Ser)
n.14651G>C
6g.152330538C>TCA366098632SYNE1c.14147G>A (p.Cys4716Tyr)
c.13934G>A (p.Cys4645Tyr)
c.13337G>A (p.Cys4446Tyr)
c.-1772G>A (n.-1772G>A)
n.1493G>A
c.14168G>A (p.Cys4723Tyr)
c.14117G>A (p.Cys4706Tyr)
c.14096G>A (p.Cys4699Tyr)
c.14012G>A (p.Cys4671Tyr)
c.14009G>A (p.Cys4670Tyr)
c.14003G>A (p.Cys4668Tyr)
c.12443G>A (p.Cys4148Tyr)
c.11936G>A (p.Cys3979Tyr)
c.7403G>A (p.Cys2468Tyr)
c.14141G>A (p.Cys4714Tyr)
c.14090G>A (p.Cys4697Tyr)
n.14651G>A
 ClinVar dbSNP gnomAD v4
6g.152330539A=CA1673274009SYNE1c.14146T= (p.Cys4716=)
c.13933T= (p.Cys4645=)
c.13336T= (p.Cys4446=)
c.-1773T= (n.-1773T=)
n.1492T=
c.14167T= (p.Cys4723=)
c.14116T= (p.Cys4706=)
c.14095T= (p.Cys4699=)
c.14011T= (p.Cys4671=)
c.14008T= (p.Cys4670=)
c.14002T= (p.Cys4668=)
c.12442T= (p.Cys4148=)
c.11935T= (p.Cys3979=)
c.7402T= (p.Cys2468=)
c.14140T= (p.Cys4714=)
c.14089T= (p.Cys4697=)
n.14650T=
6g.152330539A>CCA366098635SYNE1c.14146T>G (p.Cys4716Gly)
c.13933T>G (p.Cys4645Gly)
c.13336T>G (p.Cys4446Gly)
c.-1773T>G (n.-1773T>G)
n.1492T>G
c.14167T>G (p.Cys4723Gly)
c.14116T>G (p.Cys4706Gly)
c.14095T>G (p.Cys4699Gly)
c.14011T>G (p.Cys4671Gly)
c.14008T>G (p.Cys4670Gly)
c.14002T>G (p.Cys4668Gly)
c.12442T>G (p.Cys4148Gly)
c.11935T>G (p.Cys3979Gly)
c.7402T>G (p.Cys2468Gly)
c.14140T>G (p.Cys4714Gly)
c.14089T>G (p.Cys4697Gly)
n.14650T>G
 dbSNP gnomAD v3 gnomAD v4
6g.152330539A>GCA366098636SYNE1c.14146T>C (p.Cys4716Arg)
c.13933T>C (p.Cys4645Arg)
c.13336T>C (p.Cys4446Arg)
c.-1773T>C (n.-1773T>C)
n.1492T>C
c.14167T>C (p.Cys4723Arg)
c.14116T>C (p.Cys4706Arg)
c.14095T>C (p.Cys4699Arg)
c.14011T>C (p.Cys4671Arg)
c.14008T>C (p.Cys4670Arg)
c.14002T>C (p.Cys4668Arg)
c.12442T>C (p.Cys4148Arg)
c.11935T>C (p.Cys3979Arg)
c.7402T>C (p.Cys2468Arg)
c.14140T>C (p.Cys4714Arg)
c.14089T>C (p.Cys4697Arg)
n.14650T>C
6g.152330539A>TCA366098637SYNE1c.14146T>A (p.Cys4716Ser)
c.13933T>A (p.Cys4645Ser)
c.13336T>A (p.Cys4446Ser)
c.-1773T>A (n.-1773T>A)
n.1492T>A
c.14167T>A (p.Cys4723Ser)
c.14116T>A (p.Cys4706Ser)
c.14095T>A (p.Cys4699Ser)
c.14011T>A (p.Cys4671Ser)
c.14008T>A (p.Cys4670Ser)
c.14002T>A (p.Cys4668Ser)
c.12442T>A (p.Cys4148Ser)
c.11935T>A (p.Cys3979Ser)
c.7402T>A (p.Cys2468Ser)
c.14140T>A (p.Cys4714Ser)
c.14089T>A (p.Cys4697Ser)
n.14650T>A
 dbSNP gnomAD v2 gnomAD v4
6g.152330540A>CCA452970855SYNE1c.14145T>G (p.Gly4715=)
c.13932T>G (p.Gly4644=)
c.13335T>G (p.Gly4445=)
c.-1774T>G (n.-1774T>G)
n.1491T>G
c.14166T>G (p.Gly4722=)
c.14115T>G (p.Gly4705=)
c.14094T>G (p.Gly4698=)
c.14010T>G (p.Gly4670=)
c.14007T>G (p.Gly4669=)
c.14001T>G (p.Gly4667=)
c.12441T>G (p.Gly4147=)
c.11934T>G (p.Gly3978=)
c.7401T>G (p.Gly2467=)
c.14139T>G (p.Gly4713=)
c.14088T>G (p.Gly4696=)
n.14649T>G
6g.152330540A>GCA452970857SYNE1c.14145T>C (p.Gly4715=)
c.13932T>C (p.Gly4644=)
c.13335T>C (p.Gly4445=)
c.-1774T>C (n.-1774T>C)
n.1491T>C
c.14166T>C (p.Gly4722=)
c.14115T>C (p.Gly4705=)
c.14094T>C (p.Gly4698=)
c.14010T>C (p.Gly4670=)
c.14007T>C (p.Gly4669=)
c.14001T>C (p.Gly4667=)
c.12441T>C (p.Gly4147=)
c.11934T>C (p.Gly3978=)
c.7401T>C (p.Gly2467=)
c.14139T>C (p.Gly4713=)
c.14088T>C (p.Gly4696=)
n.14649T>C
 gnomAD v4
6g.152330540A>TCA452970856SYNE1c.14145T>A (p.Gly4715=)
c.13932T>A (p.Gly4644=)
c.13335T>A (p.Gly4445=)
c.-1774T>A (n.-1774T>A)
n.1491T>A
c.14166T>A (p.Gly4722=)
c.14115T>A (p.Gly4705=)
c.14094T>A (p.Gly4698=)
c.14010T>A (p.Gly4670=)
c.14007T>A (p.Gly4669=)
c.14001T>A (p.Gly4667=)
c.12441T>A (p.Gly4147=)
c.11934T>A (p.Gly3978=)
c.7401T>A (p.Gly2467=)
c.14139T>A (p.Gly4713=)
c.14088T>A (p.Gly4696=)
n.14649T>A
6g.152330541C>ACA366098638SYNE1c.14144G>T (p.Gly4715Val)
c.13931G>T (p.Gly4644Val)
c.13334G>T (p.Gly4445Val)
c.-1775G>T (n.-1775G>T)
n.1490G>T
c.14165G>T (p.Gly4722Val)
c.14114G>T (p.Gly4705Val)
c.14093G>T (p.Gly4698Val)
c.14009G>T (p.Gly4670Val)
c.14006G>T (p.Gly4669Val)
c.14000G>T (p.Gly4667Val)
c.12440G>T (p.Gly4147Val)
c.11933G>T (p.Gly3978Val)
c.7400G>T (p.Gly2467Val)
c.14138G>T (p.Gly4713Val)
c.14087G>T (p.Gly4696Val)
n.14648G>T
6g.152330541C>GCA366098639SYNE1c.14144G>C (p.Gly4715Ala)
c.13931G>C (p.Gly4644Ala)
c.13334G>C (p.Gly4445Ala)
c.-1775G>C (n.-1775G>C)
n.1490G>C
c.14165G>C (p.Gly4722Ala)
c.14114G>C (p.Gly4705Ala)
c.14093G>C (p.Gly4698Ala)
c.14009G>C (p.Gly4670Ala)
c.14006G>C (p.Gly4669Ala)
c.14000G>C (p.Gly4667Ala)
c.12440G>C (p.Gly4147Ala)
c.11933G>C (p.Gly3978Ala)
c.7400G>C (p.Gly2467Ala)
c.14138G>C (p.Gly4713Ala)
c.14087G>C (p.Gly4696Ala)
n.14648G>C
6g.152330541C>TCA366098640SYNE1c.14144G>A (p.Gly4715Asp)
c.13931G>A (p.Gly4644Asp)
c.13334G>A (p.Gly4445Asp)
c.-1775G>A (n.-1775G>A)
n.1490G>A
c.14165G>A (p.Gly4722Asp)
c.14114G>A (p.Gly4705Asp)
c.14093G>A (p.Gly4698Asp)
c.14009G>A (p.Gly4670Asp)
c.14006G>A (p.Gly4669Asp)
c.14000G>A (p.Gly4667Asp)
c.12440G>A (p.Gly4147Asp)
c.11933G>A (p.Gly3978Asp)
c.7400G>A (p.Gly2467Asp)
c.14138G>A (p.Gly4713Asp)
c.14087G>A (p.Gly4696Asp)
n.14648G>A
6g.152330542C>ACA366098641SYNE1c.14143G>T (p.Gly4715Cys)
c.13930G>T (p.Gly4644Cys)
c.13333G>T (p.Gly4445Cys)
c.-1776G>T (n.-1776G>T)
n.1489G>T
c.14164G>T (p.Gly4722Cys)
c.14113G>T (p.Gly4705Cys)
c.14092G>T (p.Gly4698Cys)
c.14008G>T (p.Gly4670Cys)
c.14005G>T (p.Gly4669Cys)
c.13999G>T (p.Gly4667Cys)
c.12439G>T (p.Gly4147Cys)
c.11932G>T (p.Gly3978Cys)
c.7399G>T (p.Gly2467Cys)
c.14137G>T (p.Gly4713Cys)
c.14086G>T (p.Gly4696Cys)
n.14647G>T
6g.152330542C>GCA366098642SYNE1c.14143G>C (p.Gly4715Arg)
c.13930G>C (p.Gly4644Arg)
c.13333G>C (p.Gly4445Arg)
c.-1776G>C (n.-1776G>C)
n.1489G>C
c.14164G>C (p.Gly4722Arg)
c.14113G>C (p.Gly4705Arg)
c.14092G>C (p.Gly4698Arg)
c.14008G>C (p.Gly4670Arg)
c.14005G>C (p.Gly4669Arg)
c.13999G>C (p.Gly4667Arg)
c.12439G>C (p.Gly4147Arg)
c.11932G>C (p.Gly3978Arg)
c.7399G>C (p.Gly2467Arg)
c.14137G>C (p.Gly4713Arg)
c.14086G>C (p.Gly4696Arg)
n.14647G>C
6g.152330542C>TCA366098643SYNE1c.14143G>A (p.Gly4715Ser)
c.13930G>A (p.Gly4644Ser)
c.13333G>A (p.Gly4445Ser)
c.-1776G>A (n.-1776G>A)
n.1489G>A
c.14164G>A (p.Gly4722Ser)
c.14113G>A (p.Gly4705Ser)
c.14092G>A (p.Gly4698Ser)
c.14008G>A (p.Gly4670Ser)
c.14005G>A (p.Gly4669Ser)
c.13999G>A (p.Gly4667Ser)
c.12439G>A (p.Gly4147Ser)
c.11932G>A (p.Gly3978Ser)
c.7399G>A (p.Gly2467Ser)
c.14137G>A (p.Gly4713Ser)
c.14086G>A (p.Gly4696Ser)
n.14647G>A
6g.152330543A>CCA366098644SYNE1c.14142T>G (p.Asp4714Glu)
c.13929T>G (p.Asp4643Glu)
c.13332T>G (p.Asp4444Glu)
c.-1777T>G (n.-1777T>G)
n.1488T>G
c.14163T>G (p.Asp4721Glu)
c.14112T>G (p.Asp4704Glu)
c.14091T>G (p.Asp4697Glu)
c.14007T>G (p.Asp4669Glu)
c.14004T>G (p.Asp4668Glu)
c.13998T>G (p.Asp4666Glu)
c.12438T>G (p.Asp4146Glu)
c.11931T>G (p.Asp3977Glu)
c.7398T>G (p.Asp2466Glu)
c.14136T>G (p.Asp4712Glu)
c.14085T>G (p.Asp4695Glu)
n.14646T>G
6g.152330543A>GCA452970859SYNE1c.14142T>C (p.Asp4714=)
c.13929T>C (p.Asp4643=)
c.13332T>C (p.Asp4444=)
c.-1777T>C (n.-1777T>C)
n.1488T>C
c.14163T>C (p.Asp4721=)
c.14112T>C (p.Asp4704=)
c.14091T>C (p.Asp4697=)
c.14007T>C (p.Asp4669=)
c.14004T>C (p.Asp4668=)
c.13998T>C (p.Asp4666=)
c.12438T>C (p.Asp4146=)
c.11931T>C (p.Asp3977=)
c.7398T>C (p.Asp2466=)
c.14136T>C (p.Asp4712=)
c.14085T>C (p.Asp4695=)
n.14646T>C
 gnomAD v4
6g.152330543A>TCA366098645SYNE1c.14142T>A (p.Asp4714Glu)
c.13929T>A (p.Asp4643Glu)
c.13332T>A (p.Asp4444Glu)
c.-1777T>A (n.-1777T>A)
n.1488T>A
c.14163T>A (p.Asp4721Glu)
c.14112T>A (p.Asp4704Glu)
c.14091T>A (p.Asp4697Glu)
c.14007T>A (p.Asp4669Glu)
c.14004T>A (p.Asp4668Glu)
c.13998T>A (p.Asp4666Glu)
c.12438T>A (p.Asp4146Glu)
c.11931T>A (p.Asp3977Glu)
c.7398T>A (p.Asp2466Glu)
c.14136T>A (p.Asp4712Glu)
c.14085T>A (p.Asp4695Glu)
n.14646T>A
6g.152330544T>ACA366098646SYNE1c.14141A>T (p.Asp4714Val)
c.13928A>T (p.Asp4643Val)
c.13331A>T (p.Asp4444Val)
c.-1778A>T (n.-1778A>T)
n.1487A>T
c.14162A>T (p.Asp4721Val)
c.14111A>T (p.Asp4704Val)
c.14090A>T (p.Asp4697Val)
c.14006A>T (p.Asp4669Val)
c.14003A>T (p.Asp4668Val)
c.13997A>T (p.Asp4666Val)
c.12437A>T (p.Asp4146Val)
c.11930A>T (p.Asp3977Val)
c.7397A>T (p.Asp2466Val)
c.14135A>T (p.Asp4712Val)
c.14084A>T (p.Asp4695Val)
n.14645A>T
6g.152330544T>CCA366098647SYNE1c.14141A>G (p.Asp4714Gly)
c.13928A>G (p.Asp4643Gly)
c.13331A>G (p.Asp4444Gly)
c.-1778A>G (n.-1778A>G)
n.1487A>G
c.14162A>G (p.Asp4721Gly)
c.14111A>G (p.Asp4704Gly)
c.14090A>G (p.Asp4697Gly)
c.14006A>G (p.Asp4669Gly)
c.14003A>G (p.Asp4668Gly)
c.13997A>G (p.Asp4666Gly)
c.12437A>G (p.Asp4146Gly)
c.11930A>G (p.Asp3977Gly)
c.7397A>G (p.Asp2466Gly)
c.14135A>G (p.Asp4712Gly)
c.14084A>G (p.Asp4695Gly)
n.14645A>G
 dbSNP gnomAD v3 gnomAD v4
6g.152330544T>GCA366098648SYNE1c.14141A>C (p.Asp4714Ala)
c.13928A>C (p.Asp4643Ala)
c.13331A>C (p.Asp4444Ala)
c.-1778A>C (n.-1778A>C)
n.1487A>C
c.14162A>C (p.Asp4721Ala)
c.14111A>C (p.Asp4704Ala)
c.14090A>C (p.Asp4697Ala)
c.14006A>C (p.Asp4669Ala)
c.14003A>C (p.Asp4668Ala)
c.13997A>C (p.Asp4666Ala)
c.12437A>C (p.Asp4146Ala)
c.11930A>C (p.Asp3977Ala)
c.7397A>C (p.Asp2466Ala)
c.14135A>C (p.Asp4712Ala)
c.14084A>C (p.Asp4695Ala)
n.14645A>C
6g.152330545C>ACA366098649SYNE1c.14140G>T (p.Asp4714Tyr)
c.13927G>T (p.Asp4643Tyr)
c.13330G>T (p.Asp4444Tyr)
c.-1779G>T (n.-1779G>T)
n.1486G>T
c.14161G>T (p.Asp4721Tyr)
c.14110G>T (p.Asp4704Tyr)
c.14089G>T (p.Asp4697Tyr)
c.14005G>T (p.Asp4669Tyr)
c.14002G>T (p.Asp4668Tyr)
c.13996G>T (p.Asp4666Tyr)
c.12436G>T (p.Asp4146Tyr)
c.11929G>T (p.Asp3977Tyr)
c.7396G>T (p.Asp2466Tyr)
c.14134G>T (p.Asp4712Tyr)
c.14083G>T (p.Asp4695Tyr)
n.14644G>T
6g.152330545C=CA1673274014SYNE1c.14140G= (p.Asp4714=)
c.13927G= (p.Asp4643=)
c.13330G= (p.Asp4444=)
c.-1779G= (n.-1779G=)
n.1486G=
c.14161G= (p.Asp4721=)
c.14110G= (p.Asp4704=)
c.14089G= (p.Asp4697=)
c.14005G= (p.Asp4669=)
c.14002G= (p.Asp4668=)
c.13996G= (p.Asp4666=)
c.12436G= (p.Asp4146=)
c.11929G= (p.Asp3977=)
c.7396G= (p.Asp2466=)
c.14134G= (p.Asp4712=)
c.14083G= (p.Asp4695=)
n.14644G=
6g.152330545C>GCA366098650SYNE1c.14140G>C (p.Asp4714His)
c.13927G>C (p.Asp4643His)
c.13330G>C (p.Asp4444His)
c.-1779G>C (n.-1779G>C)
n.1486G>C
c.14161G>C (p.Asp4721His)
c.14110G>C (p.Asp4704His)
c.14089G>C (p.Asp4697His)
c.14005G>C (p.Asp4669His)
c.14002G>C (p.Asp4668His)
c.13996G>C (p.Asp4666His)
c.12436G>C (p.Asp4146His)
c.11929G>C (p.Asp3977His)
c.7396G>C (p.Asp2466His)
c.14134G>C (p.Asp4712His)
c.14083G>C (p.Asp4695His)
n.14644G>C
6g.152330545C>TCA4056063SYNE1c.14140G>A (p.Asp4714Asn)
c.13927G>A (p.Asp4643Asn)
c.13330G>A (p.Asp4444Asn)
c.-1779G>A (n.-1779G>A)
n.1486G>A
c.14161G>A (p.Asp4721Asn)
c.14110G>A (p.Asp4704Asn)
c.14089G>A (p.Asp4697Asn)
c.14005G>A (p.Asp4669Asn)
c.14002G>A (p.Asp4668Asn)
c.13996G>A (p.Asp4666Asn)
c.12436G>A (p.Asp4146Asn)
c.11929G>A (p.Asp3977Asn)
c.7396G>A (p.Asp2466Asn)
c.14134G>A (p.Asp4712Asn)
c.14083G>A (p.Asp4695Asn)
n.14644G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152330546T>ACA366098651SYNE1c.14139A>T (p.Gln4713His)
c.13926A>T (p.Gln4642His)
c.13329A>T (p.Gln4443His)
c.-1780A>T (n.-1780A>T)
n.1485A>T
c.14160A>T (p.Gln4720His)
c.14109A>T (p.Gln4703His)
c.14088A>T (p.Gln4696His)
c.14004A>T (p.Gln4668His)
c.14001A>T (p.Gln4667His)
c.13995A>T (p.Gln4665His)
c.12435A>T (p.Gln4145His)
c.11928A>T (p.Gln3976His)
c.7395A>T (p.Gln2465His)
c.14133A>T (p.Gln4711His)
c.14082A>T (p.Gln4694His)
n.14643A>T
6g.152330546T>CCA452970861SYNE1c.14139A>G (p.Gln4713=)
c.13926A>G (p.Gln4642=)
c.13329A>G (p.Gln4443=)
c.-1780A>G (n.-1780A>G)
n.1485A>G
c.14160A>G (p.Gln4720=)
c.14109A>G (p.Gln4703=)
c.14088A>G (p.Gln4696=)
c.14004A>G (p.Gln4668=)
c.14001A>G (p.Gln4667=)
c.13995A>G (p.Gln4665=)
c.12435A>G (p.Gln4145=)
c.11928A>G (p.Gln3976=)
c.7395A>G (p.Gln2465=)
c.14133A>G (p.Gln4711=)
c.14082A>G (p.Gln4694=)
n.14643A>G
6g.152330546T>GCA366098652SYNE1c.14139A>C (p.Gln4713His)
c.13926A>C (p.Gln4642His)
c.13329A>C (p.Gln4443His)
c.-1780A>C (n.-1780A>C)
n.1485A>C
c.14160A>C (p.Gln4720His)
c.14109A>C (p.Gln4703His)
c.14088A>C (p.Gln4696His)
c.14004A>C (p.Gln4668His)
c.14001A>C (p.Gln4667His)
c.13995A>C (p.Gln4665His)
c.12435A>C (p.Gln4145His)
c.11928A>C (p.Gln3976His)
c.7395A>C (p.Gln2465His)
c.14133A>C (p.Gln4711His)
c.14082A>C (p.Gln4694His)
n.14643A>C
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330547T>ACA366098653SYNE1c.14138A>T (p.Gln4713Leu)
c.13925A>T (p.Gln4642Leu)
c.13328A>T (p.Gln4443Leu)
c.-1781A>T (n.-1781A>T)
n.1484A>T
c.14159A>T (p.Gln4720Leu)
c.14108A>T (p.Gln4703Leu)
c.14087A>T (p.Gln4696Leu)
c.14003A>T (p.Gln4668Leu)
c.14000A>T (p.Gln4667Leu)
c.13994A>T (p.Gln4665Leu)
c.12434A>T (p.Gln4145Leu)
c.11927A>T (p.Gln3976Leu)
c.7394A>T (p.Gln2465Leu)
c.14132A>T (p.Gln4711Leu)
c.14081A>T (p.Gln4694Leu)
n.14642A>T
6g.152330547T>CCA366098654SYNE1c.14138A>G (p.Gln4713Arg)
c.13925A>G (p.Gln4642Arg)
c.13328A>G (p.Gln4443Arg)
c.-1781A>G (n.-1781A>G)
n.1484A>G
c.14159A>G (p.Gln4720Arg)
c.14108A>G (p.Gln4703Arg)
c.14087A>G (p.Gln4696Arg)
c.14003A>G (p.Gln4668Arg)
c.14000A>G (p.Gln4667Arg)
c.13994A>G (p.Gln4665Arg)
c.12434A>G (p.Gln4145Arg)
c.11927A>G (p.Gln3976Arg)
c.7394A>G (p.Gln2465Arg)
c.14132A>G (p.Gln4711Arg)
c.14081A>G (p.Gln4694Arg)
n.14642A>G
6g.152330547T>GCA366098655SYNE1c.14138A>C (p.Gln4713Pro)
c.13925A>C (p.Gln4642Pro)
c.13328A>C (p.Gln4443Pro)
c.-1781A>C (n.-1781A>C)
n.1484A>C
c.14159A>C (p.Gln4720Pro)
c.14108A>C (p.Gln4703Pro)
c.14087A>C (p.Gln4696Pro)
c.14003A>C (p.Gln4668Pro)
c.14000A>C (p.Gln4667Pro)
c.13994A>C (p.Gln4665Pro)
c.12434A>C (p.Gln4145Pro)
c.11927A>C (p.Gln3976Pro)
c.7394A>C (p.Gln2465Pro)
c.14132A>C (p.Gln4711Pro)
c.14081A>C (p.Gln4694Pro)
n.14642A>C
6g.152330548G>ACA366098656SYNE1c.14137C>T (p.Gln4713Ter)
c.13924C>T (p.Gln4642Ter)
c.13327C>T (p.Gln4443Ter)
c.-1782C>T (n.-1782C>T)
n.1483C>T
c.14158C>T (p.Gln4720Ter)
c.14107C>T (p.Gln4703Ter)
c.14086C>T (p.Gln4696Ter)
c.14002C>T (p.Gln4668Ter)
c.13999C>T (p.Gln4667Ter)
c.13993C>T (p.Gln4665Ter)
c.12433C>T (p.Gln4145Ter)
c.11926C>T (p.Gln3976Ter)
c.7393C>T (p.Gln2465Ter)
c.14131C>T (p.Gln4711Ter)
c.14080C>T (p.Gln4694Ter)
n.14641C>T
6g.152330548G>CCA366098657SYNE1c.14137C>G (p.Gln4713Glu)
c.13924C>G (p.Gln4642Glu)
c.13327C>G (p.Gln4443Glu)
c.-1782C>G (n.-1782C>G)
n.1483C>G
c.14158C>G (p.Gln4720Glu)
c.14107C>G (p.Gln4703Glu)
c.14086C>G (p.Gln4696Glu)
c.14002C>G (p.Gln4668Glu)
c.13999C>G (p.Gln4667Glu)
c.13993C>G (p.Gln4665Glu)
c.12433C>G (p.Gln4145Glu)
c.11926C>G (p.Gln3976Glu)
c.7393C>G (p.Gln2465Glu)
c.14131C>G (p.Gln4711Glu)
c.14080C>G (p.Gln4694Glu)
n.14641C>G
 gnomAD v4
6g.152330548G>TCA366098658SYNE1c.14137C>A (p.Gln4713Lys)
c.13924C>A (p.Gln4642Lys)
c.13327C>A (p.Gln4443Lys)
c.-1782C>A (n.-1782C>A)
n.1483C>A
c.14158C>A (p.Gln4720Lys)
c.14107C>A (p.Gln4703Lys)
c.14086C>A (p.Gln4696Lys)
c.14002C>A (p.Gln4668Lys)
c.13999C>A (p.Gln4667Lys)
c.13993C>A (p.Gln4665Lys)
c.12433C>A (p.Gln4145Lys)
c.11926C>A (p.Gln3976Lys)
c.7393C>A (p.Gln2465Lys)
c.14131C>A (p.Gln4711Lys)
c.14080C>A (p.Gln4694Lys)
n.14641C>A
6g.152330549C>ACA452970864SYNE1c.14136G>T (p.Leu4712=)
c.13923G>T (p.Leu4641=)
c.13326G>T (p.Leu4442=)
c.-1783G>T (n.-1783G>T)
n.1482G>T
c.14157G>T (p.Leu4719=)
c.14106G>T (p.Leu4702=)
c.14085G>T (p.Leu4695=)
c.14001G>T (p.Leu4667=)
c.13998G>T (p.Leu4666=)
c.13992G>T (p.Leu4664=)
c.12432G>T (p.Leu4144=)
c.11925G>T (p.Leu3975=)
c.7392G>T (p.Leu2464=)
c.14130G>T (p.Leu4710=)
c.14079G>T (p.Leu4693=)
n.14640G>T
6g.152330549C>GCA452970865SYNE1c.14136G>C (p.Leu4712=)
c.13923G>C (p.Leu4641=)
c.13326G>C (p.Leu4442=)
c.-1783G>C (n.-1783G>C)
n.1482G>C
c.14157G>C (p.Leu4719=)
c.14106G>C (p.Leu4702=)
c.14085G>C (p.Leu4695=)
c.14001G>C (p.Leu4667=)
c.13998G>C (p.Leu4666=)
c.13992G>C (p.Leu4664=)
c.12432G>C (p.Leu4144=)
c.11925G>C (p.Leu3975=)
c.7392G>C (p.Leu2464=)
c.14130G>C (p.Leu4710=)
c.14079G>C (p.Leu4693=)
n.14640G>C
6g.152330549C>TCA452970866SYNE1c.14136G>A (p.Leu4712=)
c.13923G>A (p.Leu4641=)
c.13326G>A (p.Leu4442=)
c.-1783G>A (n.-1783G>A)
n.1482G>A
c.14157G>A (p.Leu4719=)
c.14106G>A (p.Leu4702=)
c.14085G>A (p.Leu4695=)
c.14001G>A (p.Leu4667=)
c.13998G>A (p.Leu4666=)
c.13992G>A (p.Leu4664=)
c.12432G>A (p.Leu4144=)
c.11925G>A (p.Leu3975=)
c.7392G>A (p.Leu2464=)
c.14130G>A (p.Leu4710=)
c.14079G>A (p.Leu4693=)
n.14640G>A
6g.152330550A>CCA366098659SYNE1c.14135T>G (p.Leu4712Arg)
c.13922T>G (p.Leu4641Arg)
c.13325T>G (p.Leu4442Arg)
c.-1784T>G (n.-1784T>G)
n.1481T>G
c.14156T>G (p.Leu4719Arg)
c.14105T>G (p.Leu4702Arg)
c.14084T>G (p.Leu4695Arg)
c.14000T>G (p.Leu4667Arg)
c.13997T>G (p.Leu4666Arg)
c.13991T>G (p.Leu4664Arg)
c.12431T>G (p.Leu4144Arg)
c.11924T>G (p.Leu3975Arg)
c.7391T>G (p.Leu2464Arg)
c.14129T>G (p.Leu4710Arg)
c.14078T>G (p.Leu4693Arg)
n.14639T>G
6g.152330550A>GCA366098660SYNE1c.14135T>C (p.Leu4712Pro)
c.13922T>C (p.Leu4641Pro)
c.13325T>C (p.Leu4442Pro)
c.-1784T>C (n.-1784T>C)
n.1481T>C
c.14156T>C (p.Leu4719Pro)
c.14105T>C (p.Leu4702Pro)
c.14084T>C (p.Leu4695Pro)
c.14000T>C (p.Leu4667Pro)
c.13997T>C (p.Leu4666Pro)
c.13991T>C (p.Leu4664Pro)
c.12431T>C (p.Leu4144Pro)
c.11924T>C (p.Leu3975Pro)
c.7391T>C (p.Leu2464Pro)
c.14129T>C (p.Leu4710Pro)
c.14078T>C (p.Leu4693Pro)
n.14639T>C
6g.152330550A>TCA366098661SYNE1c.14135T>A (p.Leu4712Gln)
c.13922T>A (p.Leu4641Gln)
c.13325T>A (p.Leu4442Gln)
c.-1784T>A (n.-1784T>A)
n.1481T>A
c.14156T>A (p.Leu4719Gln)
c.14105T>A (p.Leu4702Gln)
c.14084T>A (p.Leu4695Gln)
c.14000T>A (p.Leu4667Gln)
c.13997T>A (p.Leu4666Gln)
c.13991T>A (p.Leu4664Gln)
c.12431T>A (p.Leu4144Gln)
c.11924T>A (p.Leu3975Gln)
c.7391T>A (p.Leu2464Gln)
c.14129T>A (p.Leu4710Gln)
c.14078T>A (p.Leu4693Gln)
n.14639T>A
6g.152330551G>ACA452970868SYNE1c.14134C>T (p.Leu4712=)
c.13921C>T (p.Leu4641=)
c.13324C>T (p.Leu4442=)
c.-1785C>T (n.-1785C>T)
n.1480C>T
c.14155C>T (p.Leu4719=)
c.14104C>T (p.Leu4702=)
c.14083C>T (p.Leu4695=)
c.13999C>T (p.Leu4667=)
c.13996C>T (p.Leu4666=)
c.13990C>T (p.Leu4664=)
c.12430C>T (p.Leu4144=)
c.11923C>T (p.Leu3975=)
c.7390C>T (p.Leu2464=)
c.14128C>T (p.Leu4710=)
c.14077C>T (p.Leu4693=)
n.14638C>T
6g.152330551G>CCA366098662SYNE1c.14134C>G (p.Leu4712Val)
c.13921C>G (p.Leu4641Val)
c.13324C>G (p.Leu4442Val)
c.-1785C>G (n.-1785C>G)
n.1480C>G
c.14155C>G (p.Leu4719Val)
c.14104C>G (p.Leu4702Val)
c.14083C>G (p.Leu4695Val)
c.13999C>G (p.Leu4667Val)
c.13996C>G (p.Leu4666Val)
c.13990C>G (p.Leu4664Val)
c.12430C>G (p.Leu4144Val)
c.11923C>G (p.Leu3975Val)
c.7390C>G (p.Leu2464Val)
c.14128C>G (p.Leu4710Val)
c.14077C>G (p.Leu4693Val)
n.14638C>G
6g.152330551G>TCA366098663SYNE1c.14134C>A (p.Leu4712Met)
c.13921C>A (p.Leu4641Met)
c.13324C>A (p.Leu4442Met)
c.-1785C>A (n.-1785C>A)
n.1480C>A
c.14155C>A (p.Leu4719Met)
c.14104C>A (p.Leu4702Met)
c.14083C>A (p.Leu4695Met)
c.13999C>A (p.Leu4667Met)
c.13996C>A (p.Leu4666Met)
c.13990C>A (p.Leu4664Met)
c.12430C>A (p.Leu4144Met)
c.11923C>A (p.Leu3975Met)
c.7390C>A (p.Leu2464Met)
c.14128C>A (p.Leu4710Met)
c.14077C>A (p.Leu4693Met)
n.14638C>A
6g.152330552A>CCA452970869SYNE1c.14133T>G (p.Ser4711=)
c.13920T>G (p.Ser4640=)
c.13323T>G (p.Ser4441=)
c.-1786T>G (n.-1786T>G)
n.1479T>G
c.14154T>G (p.Ser4718=)
c.14103T>G (p.Ser4701=)
c.14082T>G (p.Ser4694=)
c.13998T>G (p.Ser4666=)
c.13995T>G (p.Ser4665=)
c.13989T>G (p.Ser4663=)
c.12429T>G (p.Ser4143=)
c.11922T>G (p.Ser3974=)
c.7389T>G (p.Ser2463=)
c.14127T>G (p.Ser4709=)
c.14076T>G (p.Ser4692=)
n.14637T>G
6g.152330552A>GCA452970870SYNE1c.14133T>C (p.Ser4711=)
c.13920T>C (p.Ser4640=)
c.13323T>C (p.Ser4441=)
c.-1786T>C (n.-1786T>C)
n.1479T>C
c.14154T>C (p.Ser4718=)
c.14103T>C (p.Ser4701=)
c.14082T>C (p.Ser4694=)
c.13998T>C (p.Ser4666=)
c.13995T>C (p.Ser4665=)
c.13989T>C (p.Ser4663=)
c.12429T>C (p.Ser4143=)
c.11922T>C (p.Ser3974=)
c.7389T>C (p.Ser2463=)
c.14127T>C (p.Ser4709=)
c.14076T>C (p.Ser4692=)
n.14637T>C
6g.152330552A>TCA452970871SYNE1c.14133T>A (p.Ser4711=)
c.13920T>A (p.Ser4640=)
c.13323T>A (p.Ser4441=)
c.-1786T>A (n.-1786T>A)
n.1479T>A
c.14154T>A (p.Ser4718=)
c.14103T>A (p.Ser4701=)
c.14082T>A (p.Ser4694=)
c.13998T>A (p.Ser4666=)
c.13995T>A (p.Ser4665=)
c.13989T>A (p.Ser4663=)
c.12429T>A (p.Ser4143=)
c.11922T>A (p.Ser3974=)
c.7389T>A (p.Ser2463=)
c.14127T>A (p.Ser4709=)
c.14076T>A (p.Ser4692=)
n.14637T>A
6g.152330553G>ACA366098666SYNE1c.14132C>T (p.Ser4711Phe)
c.13919C>T (p.Ser4640Phe)
c.13322C>T (p.Ser4441Phe)
c.-1787C>T (n.-1787C>T)
n.1478C>T
c.14153C>T (p.Ser4718Phe)
c.14102C>T (p.Ser4701Phe)
c.14081C>T (p.Ser4694Phe)
c.13997C>T (p.Ser4666Phe)
c.13994C>T (p.Ser4665Phe)
c.13988C>T (p.Ser4663Phe)
c.12428C>T (p.Ser4143Phe)
c.11921C>T (p.Ser3974Phe)
c.7388C>T (p.Ser2463Phe)
c.14126C>T (p.Ser4709Phe)
c.14075C>T (p.Ser4692Phe)
n.14636C>T
6g.152330553G>CCA366098664SYNE1c.14132C>G (p.Ser4711Cys)
c.13919C>G (p.Ser4640Cys)
c.13322C>G (p.Ser4441Cys)
c.-1787C>G (n.-1787C>G)
n.1478C>G
c.14153C>G (p.Ser4718Cys)
c.14102C>G (p.Ser4701Cys)
c.14081C>G (p.Ser4694Cys)
c.13997C>G (p.Ser4666Cys)
c.13994C>G (p.Ser4665Cys)
c.13988C>G (p.Ser4663Cys)
c.12428C>G (p.Ser4143Cys)
c.11921C>G (p.Ser3974Cys)
c.7388C>G (p.Ser2463Cys)
c.14126C>G (p.Ser4709Cys)
c.14075C>G (p.Ser4692Cys)
n.14636C>G
6g.152330553G>TCA366098665SYNE1c.14132C>A (p.Ser4711Tyr)
c.13919C>A (p.Ser4640Tyr)
c.13322C>A (p.Ser4441Tyr)
c.-1787C>A (n.-1787C>A)
n.1478C>A
c.14153C>A (p.Ser4718Tyr)
c.14102C>A (p.Ser4701Tyr)
c.14081C>A (p.Ser4694Tyr)
c.13997C>A (p.Ser4666Tyr)
c.13994C>A (p.Ser4665Tyr)
c.13988C>A (p.Ser4663Tyr)
c.12428C>A (p.Ser4143Tyr)
c.11921C>A (p.Ser3974Tyr)
c.7388C>A (p.Ser2463Tyr)
c.14126C>A (p.Ser4709Tyr)
c.14075C>A (p.Ser4692Tyr)
n.14636C>A
6g.152330554A>CCA366098667SYNE1c.14131T>G (p.Ser4711Ala)
c.13918T>G (p.Ser4640Ala)
c.13321T>G (p.Ser4441Ala)
c.-1788T>G (n.-1788T>G)
n.1477T>G
c.14152T>G (p.Ser4718Ala)
c.14101T>G (p.Ser4701Ala)
c.14080T>G (p.Ser4694Ala)
c.13996T>G (p.Ser4666Ala)
c.13993T>G (p.Ser4665Ala)
c.13987T>G (p.Ser4663Ala)
c.12427T>G (p.Ser4143Ala)
c.11920T>G (p.Ser3974Ala)
c.7387T>G (p.Ser2463Ala)
c.14125T>G (p.Ser4709Ala)
c.14074T>G (p.Ser4692Ala)
n.14635T>G
6g.152330554A>GCA366098668SYNE1c.14131T>C (p.Ser4711Pro)
c.13918T>C (p.Ser4640Pro)
c.13321T>C (p.Ser4441Pro)
c.-1788T>C (n.-1788T>C)
n.1477T>C
c.14152T>C (p.Ser4718Pro)
c.14101T>C (p.Ser4701Pro)
c.14080T>C (p.Ser4694Pro)
c.13996T>C (p.Ser4666Pro)
c.13993T>C (p.Ser4665Pro)
c.13987T>C (p.Ser4663Pro)
c.12427T>C (p.Ser4143Pro)
c.11920T>C (p.Ser3974Pro)
c.7387T>C (p.Ser2463Pro)
c.14125T>C (p.Ser4709Pro)
c.14074T>C (p.Ser4692Pro)
n.14635T>C
6g.152330554A>TCA366098669SYNE1c.14131T>A (p.Ser4711Thr)
c.13918T>A (p.Ser4640Thr)
c.13321T>A (p.Ser4441Thr)
c.-1788T>A (n.-1788T>A)
n.1477T>A
c.14152T>A (p.Ser4718Thr)
c.14101T>A (p.Ser4701Thr)
c.14080T>A (p.Ser4694Thr)
c.13996T>A (p.Ser4666Thr)
c.13993T>A (p.Ser4665Thr)
c.13987T>A (p.Ser4663Thr)
c.12427T>A (p.Ser4143Thr)
c.11920T>A (p.Ser3974Thr)
c.7387T>A (p.Ser2463Thr)
c.14125T>A (p.Ser4709Thr)
c.14074T>A (p.Ser4692Thr)
n.14635T>A
6g.152330555A>CCA452970875SYNE1c.14130T>G (p.Leu4710=)
c.13917T>G (p.Leu4639=)
c.13320T>G (p.Leu4440=)
c.-1789T>G (n.-1789T>G)
n.1476T>G
c.14151T>G (p.Leu4717=)
c.14100T>G (p.Leu4700=)
c.14079T>G (p.Leu4693=)
c.13995T>G (p.Leu4665=)
c.13992T>G (p.Leu4664=)
c.13986T>G (p.Leu4662=)
c.12426T>G (p.Leu4142=)
c.11919T>G (p.Leu3973=)
c.7386T>G (p.Leu2462=)
c.14124T>G (p.Leu4708=)
c.14073T>G (p.Leu4691=)
n.14634T>G
6g.152330555A>GCA452970876SYNE1c.14130T>C (p.Leu4710=)
c.13917T>C (p.Leu4639=)
c.13320T>C (p.Leu4440=)
c.-1789T>C (n.-1789T>C)
n.1476T>C
c.14151T>C (p.Leu4717=)
c.14100T>C (p.Leu4700=)
c.14079T>C (p.Leu4693=)
c.13995T>C (p.Leu4665=)
c.13992T>C (p.Leu4664=)
c.13986T>C (p.Leu4662=)
c.12426T>C (p.Leu4142=)
c.11919T>C (p.Leu3973=)
c.7386T>C (p.Leu2462=)
c.14124T>C (p.Leu4708=)
c.14073T>C (p.Leu4691=)
n.14634T>C
6g.152330555A>TCA452970877SYNE1c.14130T>A (p.Leu4710=)
c.13917T>A (p.Leu4639=)
c.13320T>A (p.Leu4440=)
c.-1789T>A (n.-1789T>A)
n.1476T>A
c.14151T>A (p.Leu4717=)
c.14100T>A (p.Leu4700=)
c.14079T>A (p.Leu4693=)
c.13995T>A (p.Leu4665=)
c.13992T>A (p.Leu4664=)
c.13986T>A (p.Leu4662=)
c.12426T>A (p.Leu4142=)
c.11919T>A (p.Leu3973=)
c.7386T>A (p.Leu2462=)
c.14124T>A (p.Leu4708=)
c.14073T>A (p.Leu4691=)
n.14634T>A
6g.152330556A>CCA366098670SYNE1c.14129T>G (p.Leu4710Arg)
c.13916T>G (p.Leu4639Arg)
c.13319T>G (p.Leu4440Arg)
c.-1790T>G (n.-1790T>G)
n.1475T>G
c.14150T>G (p.Leu4717Arg)
c.14099T>G (p.Leu4700Arg)
c.14078T>G (p.Leu4693Arg)
c.13994T>G (p.Leu4665Arg)
c.13991T>G (p.Leu4664Arg)
c.13985T>G (p.Leu4662Arg)
c.12425T>G (p.Leu4142Arg)
c.11918T>G (p.Leu3973Arg)
c.7385T>G (p.Leu2462Arg)
c.14123T>G (p.Leu4708Arg)
c.14072T>G (p.Leu4691Arg)
n.14633T>G
6g.152330556A>GCA366098671SYNE1c.14129T>C (p.Leu4710Pro)
c.13916T>C (p.Leu4639Pro)
c.13319T>C (p.Leu4440Pro)
c.-1790T>C (n.-1790T>C)
n.1475T>C
c.14150T>C (p.Leu4717Pro)
c.14099T>C (p.Leu4700Pro)
c.14078T>C (p.Leu4693Pro)
c.13994T>C (p.Leu4665Pro)
c.13991T>C (p.Leu4664Pro)
c.13985T>C (p.Leu4662Pro)
c.12425T>C (p.Leu4142Pro)
c.11918T>C (p.Leu3973Pro)
c.7385T>C (p.Leu2462Pro)
c.14123T>C (p.Leu4708Pro)
c.14072T>C (p.Leu4691Pro)
n.14633T>C
6g.152330556A>TCA366098672SYNE1c.14129T>A (p.Leu4710His)
c.13916T>A (p.Leu4639His)
c.13319T>A (p.Leu4440His)
c.-1790T>A (n.-1790T>A)
n.1475T>A
c.14150T>A (p.Leu4717His)
c.14099T>A (p.Leu4700His)
c.14078T>A (p.Leu4693His)
c.13994T>A (p.Leu4665His)
c.13991T>A (p.Leu4664His)
c.13985T>A (p.Leu4662His)
c.12425T>A (p.Leu4142His)
c.11918T>A (p.Leu3973His)
c.7385T>A (p.Leu2462His)
c.14123T>A (p.Leu4708His)
c.14072T>A (p.Leu4691His)
n.14633T>A
6g.152330558_152330559delCA2680826321SYNE1c.14128_14129del (p.Leu4710PhefsTer22)
c.13915_13916del (p.Leu4639PhefsTer22)
c.13318_13319del (p.Leu4440PhefsTer22)
c.-1791_-1790del (n.-1791_-1790del)
n.1474_1475del
c.14149_14150del (p.Leu4717PhefsTer22)
c.14098_14099del (p.Leu4700PhefsTer22)
c.14077_14078del (p.Leu4693PhefsTer22)
c.13993_13994del (p.Leu4665PhefsTer22)
c.13990_13991del (p.Leu4664PhefsTer22)
c.13984_13985del (p.Leu4662PhefsTer22)
c.12424_12425del (p.Leu4142PhefsTer22)
c.11917_11918del (p.Leu3973PhefsTer22)
c.7384_7385del (p.Leu2462PhefsTer22)
c.14122_14123del (p.Leu4708PhefsTer22)
c.14071_14072del (p.Leu4691PhefsTer22)
n.14632_14633del
 gnomAD v4
6g.152330557G>ACA366098673SYNE1c.14128C>T (p.Leu4710Phe)
c.13915C>T (p.Leu4639Phe)
c.13318C>T (p.Leu4440Phe)
c.-1791C>T (n.-1791C>T)
n.1474C>T
c.14149C>T (p.Leu4717Phe)
c.14098C>T (p.Leu4700Phe)
c.14077C>T (p.Leu4693Phe)
c.13993C>T (p.Leu4665Phe)
c.13990C>T (p.Leu4664Phe)
c.13984C>T (p.Leu4662Phe)
c.12424C>T (p.Leu4142Phe)
c.11917C>T (p.Leu3973Phe)
c.7384C>T (p.Leu2462Phe)
c.14122C>T (p.Leu4708Phe)
c.14071C>T (p.Leu4691Phe)
n.14632C>T
 gnomAD v4
6g.152330557G>CCA4056064SYNE1c.14128C>G (p.Leu4710Val)
c.13915C>G (p.Leu4639Val)
c.13318C>G (p.Leu4440Val)
c.-1791C>G (n.-1791C>G)
n.1474C>G
c.14149C>G (p.Leu4717Val)
c.14098C>G (p.Leu4700Val)
c.14077C>G (p.Leu4693Val)
c.13993C>G (p.Leu4665Val)
c.13990C>G (p.Leu4664Val)
c.13984C>G (p.Leu4662Val)
c.12424C>G (p.Leu4142Val)
c.11917C>G (p.Leu3973Val)
c.7384C>G (p.Leu2462Val)
c.14122C>G (p.Leu4708Val)
c.14071C>G (p.Leu4691Val)
n.14632C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152330557G=CA1673274021SYNE1c.14128C= (p.Leu4710=)
c.13915C= (p.Leu4639=)
c.13318C= (p.Leu4440=)
c.-1791C= (n.-1791C=)
n.1474C=
c.14149C= (p.Leu4717=)
c.14098C= (p.Leu4700=)
c.14077C= (p.Leu4693=)
c.13993C= (p.Leu4665=)
c.13990C= (p.Leu4664=)
c.13984C= (p.Leu4662=)
c.12424C= (p.Leu4142=)
c.11917C= (p.Leu3973=)
c.7384C= (p.Leu2462=)
c.14122C= (p.Leu4708=)
c.14071C= (p.Leu4691=)
n.14632C=
6g.152330557G>TCA366098674SYNE1c.14128C>A (p.Leu4710Ile)
c.13915C>A (p.Leu4639Ile)
c.13318C>A (p.Leu4440Ile)
c.-1791C>A (n.-1791C>A)
n.1474C>A
c.14149C>A (p.Leu4717Ile)
c.14098C>A (p.Leu4700Ile)
c.14077C>A (p.Leu4693Ile)
c.13993C>A (p.Leu4665Ile)
c.13990C>A (p.Leu4664Ile)
c.13984C>A (p.Leu4662Ile)
c.12424C>A (p.Leu4142Ile)
c.11917C>A (p.Leu3973Ile)
c.7384C>A (p.Leu2462Ile)
c.14122C>A (p.Leu4708Ile)
c.14071C>A (p.Leu4691Ile)
n.14632C>A
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330558A>CCA452970878SYNE1c.14127T>G (p.Ala4709=)
c.13914T>G (p.Ala4638=)
c.13317T>G (p.Ala4439=)
c.-1792T>G (n.-1792T>G)
n.1473T>G
c.14148T>G (p.Ala4716=)
c.14097T>G (p.Ala4699=)
c.14076T>G (p.Ala4692=)
c.13992T>G (p.Ala4664=)
c.13989T>G (p.Ala4663=)
c.13983T>G (p.Ala4661=)
c.12423T>G (p.Ala4141=)
c.11916T>G (p.Ala3972=)
c.7383T>G (p.Ala2461=)
c.14121T>G (p.Ala4707=)
c.14070T>G (p.Ala4690=)
n.14631T>G
6g.152330558A>GCA452970880SYNE1c.14127T>C (p.Ala4709=)
c.13914T>C (p.Ala4638=)
c.13317T>C (p.Ala4439=)
c.-1792T>C (n.-1792T>C)
n.1473T>C
c.14148T>C (p.Ala4716=)
c.14097T>C (p.Ala4699=)
c.14076T>C (p.Ala4692=)
c.13992T>C (p.Ala4664=)
c.13989T>C (p.Ala4663=)
c.13983T>C (p.Ala4661=)
c.12423T>C (p.Ala4141=)
c.11916T>C (p.Ala3972=)
c.7383T>C (p.Ala2461=)
c.14121T>C (p.Ala4707=)
c.14070T>C (p.Ala4690=)
n.14631T>C
6g.152330558A>TCA452970881SYNE1c.14127T>A (p.Ala4709=)
c.13914T>A (p.Ala4638=)
c.13317T>A (p.Ala4439=)
c.-1792T>A (n.-1792T>A)
n.1473T>A
c.14148T>A (p.Ala4716=)
c.14097T>A (p.Ala4699=)
c.14076T>A (p.Ala4692=)
c.13992T>A (p.Ala4664=)
c.13989T>A (p.Ala4663=)
c.13983T>A (p.Ala4661=)
c.12423T>A (p.Ala4141=)
c.11916T>A (p.Ala3972=)
c.7383T>A (p.Ala2461=)
c.14121T>A (p.Ala4707=)
c.14070T>A (p.Ala4690=)
n.14631T>A
6g.152330559G>ACA366098675SYNE1c.14126C>T (p.Ala4709Val)
c.13913C>T (p.Ala4638Val)
c.13316C>T (p.Ala4439Val)
c.-1793C>T (n.-1793C>T)
n.1472C>T
c.14147C>T (p.Ala4716Val)
c.14096C>T (p.Ala4699Val)
c.14075C>T (p.Ala4692Val)
c.13991C>T (p.Ala4664Val)
c.13988C>T (p.Ala4663Val)
c.13982C>T (p.Ala4661Val)
c.12422C>T (p.Ala4141Val)
c.11915C>T (p.Ala3972Val)
c.7382C>T (p.Ala2461Val)
c.14120C>T (p.Ala4707Val)
c.14069C>T (p.Ala4690Val)
n.14630C>T
 gnomAD v4
6g.152330559G>CCA366098676SYNE1c.14126C>G (p.Ala4709Gly)
c.13913C>G (p.Ala4638Gly)
c.13316C>G (p.Ala4439Gly)
c.-1793C>G (n.-1793C>G)
n.1472C>G
c.14147C>G (p.Ala4716Gly)
c.14096C>G (p.Ala4699Gly)
c.14075C>G (p.Ala4692Gly)
c.13991C>G (p.Ala4664Gly)
c.13988C>G (p.Ala4663Gly)
c.13982C>G (p.Ala4661Gly)
c.12422C>G (p.Ala4141Gly)
c.11915C>G (p.Ala3972Gly)
c.7382C>G (p.Ala2461Gly)
c.14120C>G (p.Ala4707Gly)
c.14069C>G (p.Ala4690Gly)
n.14630C>G
6g.152330559G>TCA366098677SYNE1c.14126C>A (p.Ala4709Asp)
c.13913C>A (p.Ala4638Asp)
c.13316C>A (p.Ala4439Asp)
c.-1793C>A (n.-1793C>A)
n.1472C>A
c.14147C>A (p.Ala4716Asp)
c.14096C>A (p.Ala4699Asp)
c.14075C>A (p.Ala4692Asp)
c.13991C>A (p.Ala4664Asp)
c.13988C>A (p.Ala4663Asp)
c.13982C>A (p.Ala4661Asp)
c.12422C>A (p.Ala4141Asp)
c.11915C>A (p.Ala3972Asp)
c.7382C>A (p.Ala2461Asp)
c.14120C>A (p.Ala4707Asp)
c.14069C>A (p.Ala4690Asp)
n.14630C>A
6g.152330560C>ACA4056065SYNE1c.14125G>T (p.Ala4709Ser)
c.13912G>T (p.Ala4638Ser)
c.13315G>T (p.Ala4439Ser)
c.-1794G>T (n.-1794G>T)
n.1471G>T
c.14146G>T (p.Ala4716Ser)
c.14095G>T (p.Ala4699Ser)
c.14074G>T (p.Ala4692Ser)
c.13990G>T (p.Ala4664Ser)
c.13987G>T (p.Ala4663Ser)
c.13981G>T (p.Ala4661Ser)
c.12421G>T (p.Ala4141Ser)
c.11914G>T (p.Ala3972Ser)
c.7381G>T (p.Ala2461Ser)
c.14119G>T (p.Ala4707Ser)
c.14068G>T (p.Ala4690Ser)
n.14629G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152330560C=CA1673274026SYNE1c.14125G= (p.Ala4709=)
c.13912G= (p.Ala4638=)
c.13315G= (p.Ala4439=)
c.-1794G= (n.-1794G=)
n.1471G=
c.14146G= (p.Ala4716=)
c.14095G= (p.Ala4699=)
c.14074G= (p.Ala4692=)
c.13990G= (p.Ala4664=)
c.13987G= (p.Ala4663=)
c.13981G= (p.Ala4661=)
c.12421G= (p.Ala4141=)
c.11914G= (p.Ala3972=)
c.7381G= (p.Ala2461=)
c.14119G= (p.Ala4707=)
c.14068G= (p.Ala4690=)
n.14629G=
6g.152330560C>GCA366098678SYNE1c.14125G>C (p.Ala4709Pro)
c.13912G>C (p.Ala4638Pro)
c.13315G>C (p.Ala4439Pro)
c.-1794G>C (n.-1794G>C)
n.1471G>C
c.14146G>C (p.Ala4716Pro)
c.14095G>C (p.Ala4699Pro)
c.14074G>C (p.Ala4692Pro)
c.13990G>C (p.Ala4664Pro)
c.13987G>C (p.Ala4663Pro)
c.13981G>C (p.Ala4661Pro)
c.12421G>C (p.Ala4141Pro)
c.11914G>C (p.Ala3972Pro)
c.7381G>C (p.Ala2461Pro)
c.14119G>C (p.Ala4707Pro)
c.14068G>C (p.Ala4690Pro)
n.14629G>C
6g.152330560C>TCA366098679SYNE1c.14125G>A (p.Ala4709Thr)
c.13912G>A (p.Ala4638Thr)
c.13315G>A (p.Ala4439Thr)
c.-1794G>A (n.-1794G>A)
n.1471G>A
c.14146G>A (p.Ala4716Thr)
c.14095G>A (p.Ala4699Thr)
c.14074G>A (p.Ala4692Thr)
c.13990G>A (p.Ala4664Thr)
c.13987G>A (p.Ala4663Thr)
c.13981G>A (p.Ala4661Thr)
c.12421G>A (p.Ala4141Thr)
c.11914G>A (p.Ala3972Thr)
c.7381G>A (p.Ala2461Thr)
c.14119G>A (p.Ala4707Thr)
c.14068G>A (p.Ala4690Thr)
n.14629G>A
 dbSNP gnomAD v3 gnomAD v4
6g.152330561C>ACA366098680SYNE1c.14124G>T (p.Glu4708Asp)
c.13911G>T (p.Glu4637Asp)
c.13314G>T (p.Glu4438Asp)
c.-1795G>T (n.-1795G>T)
n.1470G>T
c.14145G>T (p.Glu4715Asp)
c.14094G>T (p.Glu4698Asp)
c.14073G>T (p.Glu4691Asp)
c.13989G>T (p.Glu4663Asp)
c.13986G>T (p.Glu4662Asp)
c.13980G>T (p.Glu4660Asp)
c.12420G>T (p.Glu4140Asp)
c.11913G>T (p.Glu3971Asp)
c.7380G>T (p.Glu2460Asp)
c.14118G>T (p.Glu4706Asp)
c.14067G>T (p.Glu4689Asp)
n.14628G>T
 COSMIC COSMIC
6g.152330561C=CA1673274028SYNE1c.14124G= (p.Glu4708=)
c.13911G= (p.Glu4637=)
c.13314G= (p.Glu4438=)
c.-1795G= (n.-1795G=)
n.1470G=
c.14145G= (p.Glu4715=)
c.14094G= (p.Glu4698=)
c.14073G= (p.Glu4691=)
c.13989G= (p.Glu4663=)
c.13986G= (p.Glu4662=)
c.13980G= (p.Glu4660=)
c.12420G= (p.Glu4140=)
c.11913G= (p.Glu3971=)
c.7380G= (p.Glu2460=)
c.14118G= (p.Glu4706=)
c.14067G= (p.Glu4689=)
n.14628G=
6g.152330561C>GCA366098681SYNE1c.14124G>C (p.Glu4708Asp)
c.13911G>C (p.Glu4637Asp)
c.13314G>C (p.Glu4438Asp)
c.-1795G>C (n.-1795G>C)
n.1470G>C
c.14145G>C (p.Glu4715Asp)
c.14094G>C (p.Glu4698Asp)
c.14073G>C (p.Glu4691Asp)
c.13989G>C (p.Glu4663Asp)
c.13986G>C (p.Glu4662Asp)
c.13980G>C (p.Glu4660Asp)
c.12420G>C (p.Glu4140Asp)
c.11913G>C (p.Glu3971Asp)
c.7380G>C (p.Glu2460Asp)
c.14118G>C (p.Glu4706Asp)
c.14067G>C (p.Glu4689Asp)
n.14628G>C
6g.152330561C>TCA452970883SYNE1c.14124G>A (p.Glu4708=)
c.13911G>A (p.Glu4637=)
c.13314G>A (p.Glu4438=)
c.-1795G>A (n.-1795G>A)
n.1470G>A
c.14145G>A (p.Glu4715=)
c.14094G>A (p.Glu4698=)
c.14073G>A (p.Glu4691=)
c.13989G>A (p.Glu4663=)
c.13986G>A (p.Glu4662=)
c.13980G>A (p.Glu4660=)
c.12420G>A (p.Glu4140=)
c.11913G>A (p.Glu3971=)
c.7380G>A (p.Glu2460=)
c.14118G>A (p.Glu4706=)
c.14067G>A (p.Glu4689=)
n.14628G>A
 dbSNP gnomAD v2 gnomAD v4
6g.152330562T>ACA366098682SYNE1c.14123A>T (p.Glu4708Val)
c.13910A>T (p.Glu4637Val)
c.13313A>T (p.Glu4438Val)
c.-1796A>T (n.-1796A>T)
n.1469A>T
c.14144A>T (p.Glu4715Val)
c.14093A>T (p.Glu4698Val)
c.14072A>T (p.Glu4691Val)
c.13988A>T (p.Glu4663Val)
c.13985A>T (p.Glu4662Val)
c.13979A>T (p.Glu4660Val)
c.12419A>T (p.Glu4140Val)
c.11912A>T (p.Glu3971Val)
c.7379A>T (p.Glu2460Val)
c.14117A>T (p.Glu4706Val)
c.14066A>T (p.Glu4689Val)
n.14627A>T
 gnomAD v4
6g.152330562T>CCA366098683SYNE1c.14123A>G (p.Glu4708Gly)
c.13910A>G (p.Glu4637Gly)
c.13313A>G (p.Glu4438Gly)
c.-1796A>G (n.-1796A>G)
n.1469A>G
c.14144A>G (p.Glu4715Gly)
c.14093A>G (p.Glu4698Gly)
c.14072A>G (p.Glu4691Gly)
c.13988A>G (p.Glu4663Gly)
c.13985A>G (p.Glu4662Gly)
c.13979A>G (p.Glu4660Gly)
c.12419A>G (p.Glu4140Gly)
c.11912A>G (p.Glu3971Gly)
c.7379A>G (p.Glu2460Gly)
c.14117A>G (p.Glu4706Gly)
c.14066A>G (p.Glu4689Gly)
n.14627A>G
6g.152330562T>GCA366098684SYNE1c.14123A>C (p.Glu4708Ala)
c.13910A>C (p.Glu4637Ala)
c.13313A>C (p.Glu4438Ala)
c.-1796A>C (n.-1796A>C)
n.1469A>C
c.14144A>C (p.Glu4715Ala)
c.14093A>C (p.Glu4698Ala)
c.14072A>C (p.Glu4691Ala)
c.13988A>C (p.Glu4663Ala)
c.13985A>C (p.Glu4662Ala)
c.13979A>C (p.Glu4660Ala)
c.12419A>C (p.Glu4140Ala)
c.11912A>C (p.Glu3971Ala)
c.7379A>C (p.Glu2460Ala)
c.14117A>C (p.Glu4706Ala)
c.14066A>C (p.Glu4689Ala)
n.14627A>C
6g.152330562T=CA1673274042SYNE1c.14123A= (p.Glu4708=)
c.13910A= (p.Glu4637=)
c.13313A= (p.Glu4438=)
c.-1796A= (n.-1796A=)
n.1469A=
c.14144A= (p.Glu4715=)
c.14093A= (p.Glu4698=)
c.14072A= (p.Glu4691=)
c.13988A= (p.Glu4663=)
c.13985A= (p.Glu4662=)
c.13979A= (p.Glu4660=)
c.12419A= (p.Glu4140=)
c.11912A= (p.Glu3971=)
c.7379A= (p.Glu2460=)
c.14117A= (p.Glu4706=)
c.14066A= (p.Glu4689=)
n.14627A=
6g.152330563C>ACA366098685SYNE1c.14122G>T (p.Glu4708Ter)
c.13909G>T (p.Glu4637Ter)
c.13312G>T (p.Glu4438Ter)
c.-1797G>T (n.-1797G>T)
n.1468G>T
c.14143G>T (p.Glu4715Ter)
c.14092G>T (p.Glu4698Ter)
c.14071G>T (p.Glu4691Ter)
c.13987G>T (p.Glu4663Ter)
c.13984G>T (p.Glu4662Ter)
c.13978G>T (p.Glu4660Ter)
c.12418G>T (p.Glu4140Ter)
c.11911G>T (p.Glu3971Ter)
c.7378G>T (p.Glu2460Ter)
c.14116G>T (p.Glu4706Ter)
c.14065G>T (p.Glu4689Ter)
n.14626G>T
6g.152330563C>GCA366098686SYNE1c.14122G>C (p.Glu4708Gln)
c.13909G>C (p.Glu4637Gln)
c.13312G>C (p.Glu4438Gln)
c.-1797G>C (n.-1797G>C)
n.1468G>C
c.14143G>C (p.Glu4715Gln)
c.14092G>C (p.Glu4698Gln)
c.14071G>C (p.Glu4691Gln)
c.13987G>C (p.Glu4663Gln)
c.13984G>C (p.Glu4662Gln)
c.13978G>C (p.Glu4660Gln)
c.12418G>C (p.Glu4140Gln)
c.11911G>C (p.Glu3971Gln)
c.7378G>C (p.Glu2460Gln)
c.14116G>C (p.Glu4706Gln)
c.14065G>C (p.Glu4689Gln)
n.14626G>C
6g.152330563C>TCA366098687SYNE1c.14122G>A (p.Glu4708Lys)
c.13909G>A (p.Glu4637Lys)
c.13312G>A (p.Glu4438Lys)
c.-1797G>A (n.-1797G>A)
n.1468G>A
c.14143G>A (p.Glu4715Lys)
c.14092G>A (p.Glu4698Lys)
c.14071G>A (p.Glu4691Lys)
c.13987G>A (p.Glu4663Lys)
c.13984G>A (p.Glu4662Lys)
c.13978G>A (p.Glu4660Lys)
c.12418G>A (p.Glu4140Lys)
c.11911G>A (p.Glu3971Lys)
c.7378G>A (p.Glu2460Lys)
c.14116G>A (p.Glu4706Lys)
c.14065G>A (p.Glu4689Lys)
n.14626G>A
6g.152330564dupCA571437842SYNE1c.14122dup (p.Glu4708GlyfsTer25)
c.13909dup (p.Glu4637GlyfsTer25)
c.13312dup (p.Glu4438GlyfsTer25)
c.-1797dup (n.-1797dup)
n.1468dup
c.14143dup (p.Glu4715GlyfsTer25)
c.14092dup (p.Glu4698GlyfsTer25)
c.14071dup (p.Glu4691GlyfsTer25)
c.13987dup (p.Glu4663GlyfsTer25)
c.13984dup (p.Glu4662GlyfsTer25)
c.13978dup (p.Glu4660GlyfsTer25)
c.12418dup (p.Glu4140GlyfsTer25)
c.11911dup (p.Glu3971GlyfsTer25)
c.7378dup (p.Glu2460GlyfsTer25)
c.14116dup (p.Glu4706GlyfsTer25)
c.14065dup (p.Glu4689GlyfsTer25)
n.14626dup
 dbSNP gnomAD v2 gnomAD v4
6g.152330564C>ACA366098688SYNE1c.14121G>T (p.Glu4707Asp)
c.13908G>T (p.Glu4636Asp)
c.13311G>T (p.Glu4437Asp)
c.-1798G>T (n.-1798G>T)
n.1467G>T
c.14142G>T (p.Glu4714Asp)
c.14091G>T (p.Glu4697Asp)
c.14070G>T (p.Glu4690Asp)
c.13986G>T (p.Glu4662Asp)
c.13983G>T (p.Glu4661Asp)
c.13977G>T (p.Glu4659Asp)
c.12417G>T (p.Glu4139Asp)
c.11910G>T (p.Glu3970Asp)
c.7377G>T (p.Glu2459Asp)
c.14115G>T (p.Glu4705Asp)
c.14064G>T (p.Glu4688Asp)
n.14625G>T
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330564C>GCA366098689SYNE1c.14121G>C (p.Glu4707Asp)
c.13908G>C (p.Glu4636Asp)
c.13311G>C (p.Glu4437Asp)
c.-1798G>C (n.-1798G>C)
n.1467G>C
c.14142G>C (p.Glu4714Asp)
c.14091G>C (p.Glu4697Asp)
c.14070G>C (p.Glu4690Asp)
c.13986G>C (p.Glu4662Asp)
c.13983G>C (p.Glu4661Asp)
c.13977G>C (p.Glu4659Asp)
c.12417G>C (p.Glu4139Asp)
c.11910G>C (p.Glu3970Asp)
c.7377G>C (p.Glu2459Asp)
c.14115G>C (p.Glu4705Asp)
c.14064G>C (p.Glu4688Asp)
n.14625G>C
6g.152330564C>TCA452970886SYNE1c.14121G>A (p.Glu4707=)
c.13908G>A (p.Glu4636=)
c.13311G>A (p.Glu4437=)
c.-1798G>A (n.-1798G>A)
n.1467G>A
c.14142G>A (p.Glu4714=)
c.14091G>A (p.Glu4697=)
c.14070G>A (p.Glu4690=)
c.13986G>A (p.Glu4662=)
c.13983G>A (p.Glu4661=)
c.13977G>A (p.Glu4659=)
c.12417G>A (p.Glu4139=)
c.11910G>A (p.Glu3970=)
c.7377G>A (p.Glu2459=)
c.14115G>A (p.Glu4705=)
c.14064G>A (p.Glu4688=)
n.14625G>A
6g.152330565T>ACA366098690SYNE1c.14120A>T (p.Glu4707Val)
c.13907A>T (p.Glu4636Val)
c.13310A>T (p.Glu4437Val)
c.-1799A>T (n.-1799A>T)
n.1466A>T
c.14141A>T (p.Glu4714Val)
c.14090A>T (p.Glu4697Val)
c.14069A>T (p.Glu4690Val)
c.13985A>T (p.Glu4662Val)
c.13982A>T (p.Glu4661Val)
c.13976A>T (p.Glu4659Val)
c.12416A>T (p.Glu4139Val)
c.11909A>T (p.Glu3970Val)
c.7376A>T (p.Glu2459Val)
c.14114A>T (p.Glu4705Val)
c.14063A>T (p.Glu4688Val)
n.14624A>T
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330565T>CCA366098691SYNE1c.14120A>G (p.Glu4707Gly)
c.13907A>G (p.Glu4636Gly)
c.13310A>G (p.Glu4437Gly)
c.-1799A>G (n.-1799A>G)
n.1466A>G
c.14141A>G (p.Glu4714Gly)
c.14090A>G (p.Glu4697Gly)
c.14069A>G (p.Glu4690Gly)
c.13985A>G (p.Glu4662Gly)
c.13982A>G (p.Glu4661Gly)
c.13976A>G (p.Glu4659Gly)
c.12416A>G (p.Glu4139Gly)
c.11909A>G (p.Glu3970Gly)
c.7376A>G (p.Glu2459Gly)
c.14114A>G (p.Glu4705Gly)
c.14063A>G (p.Glu4688Gly)
n.14624A>G
6g.152330565T>GCA366098692SYNE1c.14120A>C (p.Glu4707Ala)
c.13907A>C (p.Glu4636Ala)
c.13310A>C (p.Glu4437Ala)
c.-1799A>C (n.-1799A>C)
n.1466A>C
c.14141A>C (p.Glu4714Ala)
c.14090A>C (p.Glu4697Ala)
c.14069A>C (p.Glu4690Ala)
c.13985A>C (p.Glu4662Ala)
c.13982A>C (p.Glu4661Ala)
c.13976A>C (p.Glu4659Ala)
c.12416A>C (p.Glu4139Ala)
c.11909A>C (p.Glu3970Ala)
c.7376A>C (p.Glu2459Ala)
c.14114A>C (p.Glu4705Ala)
c.14063A>C (p.Glu4688Ala)
n.14624A>C
6g.152330566C>ACA366098695SYNE1c.14119G>T (p.Glu4707Ter)
c.13906G>T (p.Glu4636Ter)
c.13309G>T (p.Glu4437Ter)
c.-1800G>T (n.-1800G>T)
n.1465G>T
c.14140G>T (p.Glu4714Ter)
c.14089G>T (p.Glu4697Ter)
c.14068G>T (p.Glu4690Ter)
c.13984G>T (p.Glu4662Ter)
c.13981G>T (p.Glu4661Ter)
c.13975G>T (p.Glu4659Ter)
c.12415G>T (p.Glu4139Ter)
c.11908G>T (p.Glu3970Ter)
c.7375G>T (p.Glu2459Ter)
c.14113G>T (p.Glu4705Ter)
c.14062G>T (p.Glu4688Ter)
n.14623G>T
6g.152330566C>GCA366098694SYNE1c.14119G>C (p.Glu4707Gln)
c.13906G>C (p.Glu4636Gln)
c.13309G>C (p.Glu4437Gln)
c.-1800G>C (n.-1800G>C)
n.1465G>C
c.14140G>C (p.Glu4714Gln)
c.14089G>C (p.Glu4697Gln)
c.14068G>C (p.Glu4690Gln)
c.13984G>C (p.Glu4662Gln)
c.13981G>C (p.Glu4661Gln)
c.13975G>C (p.Glu4659Gln)
c.12415G>C (p.Glu4139Gln)
c.11908G>C (p.Glu3970Gln)
c.7375G>C (p.Glu2459Gln)
c.14113G>C (p.Glu4705Gln)
c.14062G>C (p.Glu4688Gln)
n.14623G>C
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330566C>TCA366098693SYNE1c.14119G>A (p.Glu4707Lys)
c.13906G>A (p.Glu4636Lys)
c.13309G>A (p.Glu4437Lys)
c.-1800G>A (n.-1800G>A)
n.1465G>A
c.14140G>A (p.Glu4714Lys)
c.14089G>A (p.Glu4697Lys)
c.14068G>A (p.Glu4690Lys)
c.13984G>A (p.Glu4662Lys)
c.13981G>A (p.Glu4661Lys)
c.13975G>A (p.Glu4659Lys)
c.12415G>A (p.Glu4139Lys)
c.11908G>A (p.Glu3970Lys)
c.7375G>A (p.Glu2459Lys)
c.14113G>A (p.Glu4705Lys)
c.14062G>A (p.Glu4688Lys)
n.14623G>A
6g.152330567A=CA1673274044SYNE1c.14118T= (p.Val4706=)
c.13905T= (p.Val4635=)
c.13308T= (p.Val4436=)
c.-1801T= (n.-1801T=)
n.1464T=
c.14139T= (p.Val4713=)
c.14088T= (p.Val4696=)
c.14067T= (p.Val4689=)
c.13983T= (p.Val4661=)
c.13980T= (p.Val4660=)
c.13974T= (p.Val4658=)
c.12414T= (p.Val4138=)
c.11907T= (p.Val3969=)
c.7374T= (p.Val2458=)
c.14112T= (p.Val4704=)
c.14061T= (p.Val4687=)
n.14622T=
6g.152330567A>CCA452970888SYNE1c.14118T>G (p.Val4706=)
c.13905T>G (p.Val4635=)
c.13308T>G (p.Val4436=)
c.-1801T>G (n.-1801T>G)
n.1464T>G
c.14139T>G (p.Val4713=)
c.14088T>G (p.Val4696=)
c.14067T>G (p.Val4689=)
c.13983T>G (p.Val4661=)
c.13980T>G (p.Val4660=)
c.13974T>G (p.Val4658=)
c.12414T>G (p.Val4138=)
c.11907T>G (p.Val3969=)
c.7374T>G (p.Val2458=)
c.14112T>G (p.Val4704=)
c.14061T>G (p.Val4687=)
n.14622T>G
6g.152330567A>GCA452970889SYNE1c.14118T>C (p.Val4706=)
c.13905T>C (p.Val4635=)
c.13308T>C (p.Val4436=)
c.-1801T>C (n.-1801T>C)
n.1464T>C
c.14139T>C (p.Val4713=)
c.14088T>C (p.Val4696=)
c.14067T>C (p.Val4689=)
c.13983T>C (p.Val4661=)
c.13980T>C (p.Val4660=)
c.13974T>C (p.Val4658=)
c.12414T>C (p.Val4138=)
c.11907T>C (p.Val3969=)
c.7374T>C (p.Val2458=)
c.14112T>C (p.Val4704=)
c.14061T>C (p.Val4687=)
n.14622T>C
 dbSNP gnomAD v4
6g.152330567A>TCA452970890SYNE1c.14118T>A (p.Val4706=)
c.13905T>A (p.Val4635=)
c.13308T>A (p.Val4436=)
c.-1801T>A (n.-1801T>A)
n.1464T>A
c.14139T>A (p.Val4713=)
c.14088T>A (p.Val4696=)
c.14067T>A (p.Val4689=)
c.13983T>A (p.Val4661=)
c.13980T>A (p.Val4660=)
c.13974T>A (p.Val4658=)
c.12414T>A (p.Val4138=)
c.11907T>A (p.Val3969=)
c.7374T>A (p.Val2458=)
c.14112T>A (p.Val4704=)
c.14061T>A (p.Val4687=)
n.14622T>A
 dbSNP
6g.152330568A>CCA366098696SYNE1c.14117T>G (p.Val4706Gly)
c.13904T>G (p.Val4635Gly)
c.13307T>G (p.Val4436Gly)
c.-1802T>G (n.-1802T>G)
n.1463T>G
c.14138T>G (p.Val4713Gly)
c.14087T>G (p.Val4696Gly)
c.14066T>G (p.Val4689Gly)
c.13982T>G (p.Val4661Gly)
c.13979T>G (p.Val4660Gly)
c.13973T>G (p.Val4658Gly)
c.12413T>G (p.Val4138Gly)
c.11906T>G (p.Val3969Gly)
c.7373T>G (p.Val2458Gly)
c.14111T>G (p.Val4704Gly)
c.14060T>G (p.Val4687Gly)
n.14621T>G
6g.152330568A>GCA366098697SYNE1c.14117T>C (p.Val4706Ala)
c.13904T>C (p.Val4635Ala)
c.13307T>C (p.Val4436Ala)
c.-1802T>C (n.-1802T>C)
n.1463T>C
c.14138T>C (p.Val4713Ala)
c.14087T>C (p.Val4696Ala)
c.14066T>C (p.Val4689Ala)
c.13982T>C (p.Val4661Ala)
c.13979T>C (p.Val4660Ala)
c.13973T>C (p.Val4658Ala)
c.12413T>C (p.Val4138Ala)
c.11906T>C (p.Val3969Ala)
c.7373T>C (p.Val2458Ala)
c.14111T>C (p.Val4704Ala)
c.14060T>C (p.Val4687Ala)
n.14621T>C
6g.152330568A>TCA366098698SYNE1c.14117T>A (p.Val4706Asp)
c.13904T>A (p.Val4635Asp)
c.13307T>A (p.Val4436Asp)
c.-1802T>A (n.-1802T>A)
n.1463T>A
c.14138T>A (p.Val4713Asp)
c.14087T>A (p.Val4696Asp)
c.14066T>A (p.Val4689Asp)
c.13982T>A (p.Val4661Asp)
c.13979T>A (p.Val4660Asp)
c.13973T>A (p.Val4658Asp)
c.12413T>A (p.Val4138Asp)
c.11906T>A (p.Val3969Asp)
c.7373T>A (p.Val2458Asp)
c.14111T>A (p.Val4704Asp)
c.14060T>A (p.Val4687Asp)
n.14621T>A
6g.152330569C>ACA366098699SYNE1c.14116G>T (p.Val4706Phe)
c.13903G>T (p.Val4635Phe)
c.13306G>T (p.Val4436Phe)
c.-1803G>T (n.-1803G>T)
n.1462G>T
c.14137G>T (p.Val4713Phe)
c.14086G>T (p.Val4696Phe)
c.14065G>T (p.Val4689Phe)
c.13981G>T (p.Val4661Phe)
c.13978G>T (p.Val4660Phe)
c.13972G>T (p.Val4658Phe)
c.12412G>T (p.Val4138Phe)
c.11905G>T (p.Val3969Phe)
c.7372G>T (p.Val2458Phe)
c.14110G>T (p.Val4704Phe)
c.14059G>T (p.Val4687Phe)
n.14620G>T
6g.152330569C=CA1673274048SYNE1c.14116G= (p.Val4706=)
c.13903G= (p.Val4635=)
c.13306G= (p.Val4436=)
c.-1803G= (n.-1803G=)
n.1462G=
c.14137G= (p.Val4713=)
c.14086G= (p.Val4696=)
c.14065G= (p.Val4689=)
c.13981G= (p.Val4661=)
c.13978G= (p.Val4660=)
c.13972G= (p.Val4658=)
c.12412G= (p.Val4138=)
c.11905G= (p.Val3969=)
c.7372G= (p.Val2458=)
c.14110G= (p.Val4704=)
c.14059G= (p.Val4687=)
n.14620G=
6g.152330569C>GCA4056066SYNE1c.14116G>C (p.Val4706Leu)
c.13903G>C (p.Val4635Leu)
c.13306G>C (p.Val4436Leu)
c.-1803G>C (n.-1803G>C)
n.1462G>C
c.14137G>C (p.Val4713Leu)
c.14086G>C (p.Val4696Leu)
c.14065G>C (p.Val4689Leu)
c.13981G>C (p.Val4661Leu)
c.13978G>C (p.Val4660Leu)
c.13972G>C (p.Val4658Leu)
c.12412G>C (p.Val4138Leu)
c.11905G>C (p.Val3969Leu)
c.7372G>C (p.Val2458Leu)
c.14110G>C (p.Val4704Leu)
c.14059G>C (p.Val4687Leu)
n.14620G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152330569C>TCA4056067SYNE1c.14116G>A (p.Val4706Ile)
c.13903G>A (p.Val4635Ile)
c.13306G>A (p.Val4436Ile)
c.-1803G>A (n.-1803G>A)
n.1462G>A
c.14137G>A (p.Val4713Ile)
c.14086G>A (p.Val4696Ile)
c.14065G>A (p.Val4689Ile)
c.13981G>A (p.Val4661Ile)
c.13978G>A (p.Val4660Ile)
c.13972G>A (p.Val4658Ile)
c.12412G>A (p.Val4138Ile)
c.11905G>A (p.Val3969Ile)
c.7372G>A (p.Val2458Ile)
c.14110G>A (p.Val4704Ile)
c.14059G>A (p.Val4687Ile)
n.14620G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330570G>ACA4056068SYNE1c.14115C>T (p.Ala4705=)
c.13902C>T (p.Ala4634=)
c.13305C>T (p.Ala4435=)
c.-1804C>T (n.-1804C>T)
n.1461C>T
c.14136C>T (p.Ala4712=)
c.14085C>T (p.Ala4695=)
c.14064C>T (p.Ala4688=)
c.13980C>T (p.Ala4660=)
c.13977C>T (p.Ala4659=)
c.13971C>T (p.Ala4657=)
c.12411C>T (p.Ala4137=)
c.11904C>T (p.Ala3968=)
c.7371C>T (p.Ala2457=)
c.14109C>T (p.Ala4703=)
c.14058C>T (p.Ala4686=)
n.14619C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330570G>CCA452970893SYNE1c.14115C>G (p.Ala4705=)
c.13902C>G (p.Ala4634=)
c.13305C>G (p.Ala4435=)
c.-1804C>G (n.-1804C>G)
n.1461C>G
c.14136C>G (p.Ala4712=)
c.14085C>G (p.Ala4695=)
c.14064C>G (p.Ala4688=)
c.13980C>G (p.Ala4660=)
c.13977C>G (p.Ala4659=)
c.13971C>G (p.Ala4657=)
c.12411C>G (p.Ala4137=)
c.11904C>G (p.Ala3968=)
c.7371C>G (p.Ala2457=)
c.14109C>G (p.Ala4703=)
c.14058C>G (p.Ala4686=)
n.14619C>G
6g.152330570G=CA1673274056SYNE1c.14115C= (p.Ala4705=)
c.13902C= (p.Ala4634=)
c.13305C= (p.Ala4435=)
c.-1804C= (n.-1804C=)
n.1461C=
c.14136C= (p.Ala4712=)
c.14085C= (p.Ala4695=)
c.14064C= (p.Ala4688=)
c.13980C= (p.Ala4660=)
c.13977C= (p.Ala4659=)
c.13971C= (p.Ala4657=)
c.12411C= (p.Ala4137=)
c.11904C= (p.Ala3968=)
c.7371C= (p.Ala2457=)
c.14109C= (p.Ala4703=)
c.14058C= (p.Ala4686=)
n.14619C=
6g.152330570G>TCA452970894SYNE1c.14115C>A (p.Ala4705=)
c.13902C>A (p.Ala4634=)
c.13305C>A (p.Ala4435=)
c.-1804C>A (n.-1804C>A)
n.1461C>A
c.14136C>A (p.Ala4712=)
c.14085C>A (p.Ala4695=)
c.14064C>A (p.Ala4688=)
c.13980C>A (p.Ala4660=)
c.13977C>A (p.Ala4659=)
c.13971C>A (p.Ala4657=)
c.12411C>A (p.Ala4137=)
c.11904C>A (p.Ala3968=)
c.7371C>A (p.Ala2457=)
c.14109C>A (p.Ala4703=)
c.14058C>A (p.Ala4686=)
n.14619C>A
6g.152330571G>ACA366098700SYNE1c.14114C>T (p.Ala4705Val)
c.13901C>T (p.Ala4634Val)
c.13304C>T (p.Ala4435Val)
c.-1805C>T (n.-1805C>T)
n.1460C>T
c.14135C>T (p.Ala4712Val)
c.14084C>T (p.Ala4695Val)
c.14063C>T (p.Ala4688Val)
c.13979C>T (p.Ala4660Val)
c.13976C>T (p.Ala4659Val)
c.13970C>T (p.Ala4657Val)
c.12410C>T (p.Ala4137Val)
c.11903C>T (p.Ala3968Val)
c.7370C>T (p.Ala2457Val)
c.14108C>T (p.Ala4703Val)
c.14057C>T (p.Ala4686Val)
n.14618C>T
6g.152330571G>CCA366098701SYNE1c.14114C>G (p.Ala4705Gly)
c.13901C>G (p.Ala4634Gly)
c.13304C>G (p.Ala4435Gly)
c.-1805C>G (n.-1805C>G)
n.1460C>G
c.14135C>G (p.Ala4712Gly)
c.14084C>G (p.Ala4695Gly)
c.14063C>G (p.Ala4688Gly)
c.13979C>G (p.Ala4660Gly)
c.13976C>G (p.Ala4659Gly)
c.13970C>G (p.Ala4657Gly)
c.12410C>G (p.Ala4137Gly)
c.11903C>G (p.Ala3968Gly)
c.7370C>G (p.Ala2457Gly)
c.14108C>G (p.Ala4703Gly)
c.14057C>G (p.Ala4686Gly)
n.14618C>G
 dbSNP
6g.152330571G=CA1673274064SYNE1c.14114C= (p.Ala4705=)
c.13901C= (p.Ala4634=)
c.13304C= (p.Ala4435=)
c.-1805C= (n.-1805C=)
n.1460C=
c.14135C= (p.Ala4712=)
c.14084C= (p.Ala4695=)
c.14063C= (p.Ala4688=)
c.13979C= (p.Ala4660=)
c.13976C= (p.Ala4659=)
c.13970C= (p.Ala4657=)
c.12410C= (p.Ala4137=)
c.11903C= (p.Ala3968=)
c.7370C= (p.Ala2457=)
c.14108C= (p.Ala4703=)
c.14057C= (p.Ala4686=)
n.14618C=
6g.152330571G>TCA366098702SYNE1c.14114C>A (p.Ala4705Asp)
c.13901C>A (p.Ala4634Asp)
c.13304C>A (p.Ala4435Asp)
c.-1805C>A (n.-1805C>A)
n.1460C>A
c.14135C>A (p.Ala4712Asp)
c.14084C>A (p.Ala4695Asp)
c.14063C>A (p.Ala4688Asp)
c.13979C>A (p.Ala4660Asp)
c.13976C>A (p.Ala4659Asp)
c.13970C>A (p.Ala4657Asp)
c.12410C>A (p.Ala4137Asp)
c.11903C>A (p.Ala3968Asp)
c.7370C>A (p.Ala2457Asp)
c.14108C>A (p.Ala4703Asp)
c.14057C>A (p.Ala4686Asp)
n.14618C>A
 dbSNP gnomAD v4
6g.152330572C>ACA366098703SYNE1c.14113G>T (p.Ala4705Ser)
c.13900G>T (p.Ala4634Ser)
c.13303G>T (p.Ala4435Ser)
c.-1806G>T (n.-1806G>T)
n.1459G>T
c.14134G>T (p.Ala4712Ser)
c.14083G>T (p.Ala4695Ser)
c.14062G>T (p.Ala4688Ser)
c.13978G>T (p.Ala4660Ser)
c.13975G>T (p.Ala4659Ser)
c.13969G>T (p.Ala4657Ser)
c.12409G>T (p.Ala4137Ser)
c.11902G>T (p.Ala3968Ser)
c.7369G>T (p.Ala2457Ser)
c.14107G>T (p.Ala4703Ser)
c.14056G>T (p.Ala4686Ser)
n.14617G>T
 dbSNP
6g.152330572C=CA1673274066SYNE1c.14113G= (p.Ala4705=)
c.13900G= (p.Ala4634=)
c.13303G= (p.Ala4435=)
c.-1806G= (n.-1806G=)
n.1459G=
c.14134G= (p.Ala4712=)
c.14083G= (p.Ala4695=)
c.14062G= (p.Ala4688=)
c.13978G= (p.Ala4660=)
c.13975G= (p.Ala4659=)
c.13969G= (p.Ala4657=)
c.12409G= (p.Ala4137=)
c.11902G= (p.Ala3968=)
c.7369G= (p.Ala2457=)
c.14107G= (p.Ala4703=)
c.14056G= (p.Ala4686=)
n.14617G=
6g.152330572C>GCA366098704SYNE1c.14113G>C (p.Ala4705Pro)
c.13900G>C (p.Ala4634Pro)
c.13303G>C (p.Ala4435Pro)
c.-1806G>C (n.-1806G>C)
n.1459G>C
c.14134G>C (p.Ala4712Pro)
c.14083G>C (p.Ala4695Pro)
c.14062G>C (p.Ala4688Pro)
c.13978G>C (p.Ala4660Pro)
c.13975G>C (p.Ala4659Pro)
c.13969G>C (p.Ala4657Pro)
c.12409G>C (p.Ala4137Pro)
c.11902G>C (p.Ala3968Pro)
c.7369G>C (p.Ala2457Pro)
c.14107G>C (p.Ala4703Pro)
c.14056G>C (p.Ala4686Pro)
n.14617G>C
6g.152330572C>TCA366098705SYNE1c.14113G>A (p.Ala4705Thr)
c.13900G>A (p.Ala4634Thr)
c.13303G>A (p.Ala4435Thr)
c.-1806G>A (n.-1806G>A)
n.1459G>A
c.14134G>A (p.Ala4712Thr)
c.14083G>A (p.Ala4695Thr)
c.14062G>A (p.Ala4688Thr)
c.13978G>A (p.Ala4660Thr)
c.13975G>A (p.Ala4659Thr)
c.13969G>A (p.Ala4657Thr)
c.12409G>A (p.Ala4137Thr)
c.11902G>A (p.Ala3968Thr)
c.7369G>A (p.Ala2457Thr)
c.14107G>A (p.Ala4703Thr)
c.14056G>A (p.Ala4686Thr)
n.14617G>A
6g.152330573C>ACA452970898SYNE1c.14112G>T (p.Leu4704=)
c.13899G>T (p.Leu4633=)
c.13302G>T (p.Leu4434=)
c.-1807G>T (n.-1807G>T)
n.1458G>T
c.14133G>T (p.Leu4711=)
c.14082G>T (p.Leu4694=)
c.14061G>T (p.Leu4687=)
c.13977G>T (p.Leu4659=)
c.13974G>T (p.Leu4658=)
c.13968G>T (p.Leu4656=)
c.12408G>T (p.Leu4136=)
c.11901G>T (p.Leu3967=)
c.7368G>T (p.Leu2456=)
c.14106G>T (p.Leu4702=)
c.14055G>T (p.Leu4685=)
n.14616G>T
6g.152330573C>GCA452970900SYNE1c.14112G>C (p.Leu4704=)
c.13899G>C (p.Leu4633=)
c.13302G>C (p.Leu4434=)
c.-1807G>C (n.-1807G>C)
n.1458G>C
c.14133G>C (p.Leu4711=)
c.14082G>C (p.Leu4694=)
c.14061G>C (p.Leu4687=)
c.13977G>C (p.Leu4659=)
c.13974G>C (p.Leu4658=)
c.13968G>C (p.Leu4656=)
c.12408G>C (p.Leu4136=)
c.11901G>C (p.Leu3967=)
c.7368G>C (p.Leu2456=)
c.14106G>C (p.Leu4702=)
c.14055G>C (p.Leu4685=)
n.14616G>C
6g.152330573C>TCA452970901SYNE1c.14112G>A (p.Leu4704=)
c.13899G>A (p.Leu4633=)
c.13302G>A (p.Leu4434=)
c.-1807G>A (n.-1807G>A)
n.1458G>A
c.14133G>A (p.Leu4711=)
c.14082G>A (p.Leu4694=)
c.14061G>A (p.Leu4687=)
c.13977G>A (p.Leu4659=)
c.13974G>A (p.Leu4658=)
c.13968G>A (p.Leu4656=)
c.12408G>A (p.Leu4136=)
c.11901G>A (p.Leu3967=)
c.7368G>A (p.Leu2456=)
c.14106G>A (p.Leu4702=)
c.14055G>A (p.Leu4685=)
n.14616G>A
6g.152330574A>CCA366098708SYNE1c.14111T>G (p.Leu4704Arg)
c.13898T>G (p.Leu4633Arg)
c.13301T>G (p.Leu4434Arg)
c.-1808T>G (n.-1808T>G)
n.1457T>G
c.14132T>G (p.Leu4711Arg)
c.14081T>G (p.Leu4694Arg)
c.14060T>G (p.Leu4687Arg)
c.13976T>G (p.Leu4659Arg)
c.13973T>G (p.Leu4658Arg)
c.13967T>G (p.Leu4656Arg)
c.12407T>G (p.Leu4136Arg)
c.11900T>G (p.Leu3967Arg)
c.7367T>G (p.Leu2456Arg)
c.14105T>G (p.Leu4702Arg)
c.14054T>G (p.Leu4685Arg)
n.14615T>G
6g.152330574A>GCA366098707SYNE1c.14111T>C (p.Leu4704Pro)
c.13898T>C (p.Leu4633Pro)
c.13301T>C (p.Leu4434Pro)
c.-1808T>C (n.-1808T>C)
n.1457T>C
c.14132T>C (p.Leu4711Pro)
c.14081T>C (p.Leu4694Pro)
c.14060T>C (p.Leu4687Pro)
c.13976T>C (p.Leu4659Pro)
c.13973T>C (p.Leu4658Pro)
c.13967T>C (p.Leu4656Pro)
c.12407T>C (p.Leu4136Pro)
c.11900T>C (p.Leu3967Pro)
c.7367T>C (p.Leu2456Pro)
c.14105T>C (p.Leu4702Pro)
c.14054T>C (p.Leu4685Pro)
n.14615T>C
6g.152330574A>TCA366098706SYNE1c.14111T>A (p.Leu4704Gln)
c.13898T>A (p.Leu4633Gln)
c.13301T>A (p.Leu4434Gln)
c.-1808T>A (n.-1808T>A)
n.1457T>A
c.14132T>A (p.Leu4711Gln)
c.14081T>A (p.Leu4694Gln)
c.14060T>A (p.Leu4687Gln)
c.13976T>A (p.Leu4659Gln)
c.13973T>A (p.Leu4658Gln)
c.13967T>A (p.Leu4656Gln)
c.12407T>A (p.Leu4136Gln)
c.11900T>A (p.Leu3967Gln)
c.7367T>A (p.Leu2456Gln)
c.14105T>A (p.Leu4702Gln)
c.14054T>A (p.Leu4685Gln)
n.14615T>A
6g.152330575G>ACA452970902SYNE1c.14110C>T (p.Leu4704=)
c.13897C>T (p.Leu4633=)
c.13300C>T (p.Leu4434=)
c.-1809C>T (n.-1809C>T)
n.1456C>T
c.14131C>T (p.Leu4711=)
c.14080C>T (p.Leu4694=)
c.14059C>T (p.Leu4687=)
c.13975C>T (p.Leu4659=)
c.13972C>T (p.Leu4658=)
c.13966C>T (p.Leu4656=)
c.12406C>T (p.Leu4136=)
c.11899C>T (p.Leu3967=)
c.7366C>T (p.Leu2456=)
c.14104C>T (p.Leu4702=)
c.14053C>T (p.Leu4685=)
n.14614C>T
6g.152330575G>CCA366098709SYNE1c.14110C>G (p.Leu4704Val)
c.13897C>G (p.Leu4633Val)
c.13300C>G (p.Leu4434Val)
c.-1809C>G (n.-1809C>G)
n.1456C>G
c.14131C>G (p.Leu4711Val)
c.14080C>G (p.Leu4694Val)
c.14059C>G (p.Leu4687Val)
c.13975C>G (p.Leu4659Val)
c.13972C>G (p.Leu4658Val)
c.13966C>G (p.Leu4656Val)
c.12406C>G (p.Leu4136Val)
c.11899C>G (p.Leu3967Val)
c.7366C>G (p.Leu2456Val)
c.14104C>G (p.Leu4702Val)
c.14053C>G (p.Leu4685Val)
n.14614C>G
6g.152330575G>TCA366098710SYNE1c.14110C>A (p.Leu4704Met)
c.13897C>A (p.Leu4633Met)
c.13300C>A (p.Leu4434Met)
c.-1809C>A (n.-1809C>A)
n.1456C>A
c.14131C>A (p.Leu4711Met)
c.14080C>A (p.Leu4694Met)
c.14059C>A (p.Leu4687Met)
c.13975C>A (p.Leu4659Met)
c.13972C>A (p.Leu4658Met)
c.13966C>A (p.Leu4656Met)
c.12406C>A (p.Leu4136Met)
c.11899C>A (p.Leu3967Met)
c.7366C>A (p.Leu2456Met)
c.14104C>A (p.Leu4702Met)
c.14053C>A (p.Leu4685Met)
n.14614C>A
 gnomAD v4
6g.152330576G>ACA452970904SYNE1c.14109C>T (p.Asp4703=)
c.13896C>T (p.Asp4632=)
c.13299C>T (p.Asp4433=)
c.-1810C>T (n.-1810C>T)
n.1455C>T
c.14130C>T (p.Asp4710=)
c.14079C>T (p.Asp4693=)
c.14058C>T (p.Asp4686=)
c.13974C>T (p.Asp4658=)
c.13971C>T (p.Asp4657=)
c.13965C>T (p.Asp4655=)
c.12405C>T (p.Asp4135=)
c.11898C>T (p.Asp3966=)
c.7365C>T (p.Asp2455=)
c.14103C>T (p.Asp4701=)
c.14052C>T (p.Asp4684=)
n.14613C>T
6g.152330576G>CCA366098711SYNE1c.14109C>G (p.Asp4703Glu)
c.13896C>G (p.Asp4632Glu)
c.13299C>G (p.Asp4433Glu)
c.-1810C>G (n.-1810C>G)
n.1455C>G
c.14130C>G (p.Asp4710Glu)
c.14079C>G (p.Asp4693Glu)
c.14058C>G (p.Asp4686Glu)
c.13974C>G (p.Asp4658Glu)
c.13971C>G (p.Asp4657Glu)
c.13965C>G (p.Asp4655Glu)
c.12405C>G (p.Asp4135Glu)
c.11898C>G (p.Asp3966Glu)
c.7365C>G (p.Asp2455Glu)
c.14103C>G (p.Asp4701Glu)
c.14052C>G (p.Asp4684Glu)
n.14613C>G
6g.152330576G>TCA366098712SYNE1c.14109C>A (p.Asp4703Glu)
c.13896C>A (p.Asp4632Glu)
c.13299C>A (p.Asp4433Glu)
c.-1810C>A (n.-1810C>A)
n.1455C>A
c.14130C>A (p.Asp4710Glu)
c.14079C>A (p.Asp4693Glu)
c.14058C>A (p.Asp4686Glu)
c.13974C>A (p.Asp4658Glu)
c.13971C>A (p.Asp4657Glu)
c.13965C>A (p.Asp4655Glu)
c.12405C>A (p.Asp4135Glu)
c.11898C>A (p.Asp3966Glu)
c.7365C>A (p.Asp2455Glu)
c.14103C>A (p.Asp4701Glu)
c.14052C>A (p.Asp4684Glu)
n.14613C>A
6g.152330577T>ACA4056069SYNE1c.14108A>T (p.Asp4703Val)
c.13895A>T (p.Asp4632Val)
c.13298A>T (p.Asp4433Val)
c.-1811A>T (n.-1811A>T)
n.1454A>T
c.14129A>T (p.Asp4710Val)
c.14078A>T (p.Asp4693Val)
c.14057A>T (p.Asp4686Val)
c.13973A>T (p.Asp4658Val)
c.13970A>T (p.Asp4657Val)
c.13964A>T (p.Asp4655Val)
c.12404A>T (p.Asp4135Val)
c.11897A>T (p.Asp3966Val)
c.7364A>T (p.Asp2455Val)
c.14102A>T (p.Asp4701Val)
c.14051A>T (p.Asp4684Val)
n.14612A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330577T>CCA150176745SYNE1c.14108A>G (p.Asp4703Gly)
c.13895A>G (p.Asp4632Gly)
c.13298A>G (p.Asp4433Gly)
c.-1811A>G (n.-1811A>G)
n.1454A>G
c.14129A>G (p.Asp4710Gly)
c.14078A>G (p.Asp4693Gly)
c.14057A>G (p.Asp4686Gly)
c.13973A>G (p.Asp4658Gly)
c.13970A>G (p.Asp4657Gly)
c.13964A>G (p.Asp4655Gly)
c.12404A>G (p.Asp4135Gly)
c.11897A>G (p.Asp3966Gly)
c.7364A>G (p.Asp2455Gly)
c.14102A>G (p.Asp4701Gly)
c.14051A>G (p.Asp4684Gly)
n.14612A>G
 ClinVar dbSNP
6g.152330577T>GCA366098713SYNE1c.14108A>C (p.Asp4703Ala)
c.13895A>C (p.Asp4632Ala)
c.13298A>C (p.Asp4433Ala)
c.-1811A>C (n.-1811A>C)
n.1454A>C
c.14129A>C (p.Asp4710Ala)
c.14078A>C (p.Asp4693Ala)
c.14057A>C (p.Asp4686Ala)
c.13973A>C (p.Asp4658Ala)
c.13970A>C (p.Asp4657Ala)
c.13964A>C (p.Asp4655Ala)
c.12404A>C (p.Asp4135Ala)
c.11897A>C (p.Asp3966Ala)
c.7364A>C (p.Asp2455Ala)
c.14102A>C (p.Asp4701Ala)
c.14051A>C (p.Asp4684Ala)
n.14612A>C
6g.152330577T=CA1673274070SYNE1c.14108A= (p.Asp4703=)
c.13895A= (p.Asp4632=)
c.13298A= (p.Asp4433=)
c.-1811A= (n.-1811A=)
n.1454A=
c.14129A= (p.Asp4710=)
c.14078A= (p.Asp4693=)
c.14057A= (p.Asp4686=)
c.13973A= (p.Asp4658=)
c.13970A= (p.Asp4657=)
c.13964A= (p.Asp4655=)
c.12404A= (p.Asp4135=)
c.11897A= (p.Asp3966=)
c.7364A= (p.Asp2455=)
c.14102A= (p.Asp4701=)
c.14051A= (p.Asp4684=)
n.14612A=
6g.152330577_152330578delinsAACA2580075295SYNE1c.14107_14108delinsTT (p.Asp4703Phe)
c.13894_13895delinsTT (p.Asp4632Phe)
c.13297_13298delinsTT (p.Asp4433Phe)
c.-1812_-1811delinsTT (n.-1812_-1811delinsTT)
n.1453_1454delinsTT
c.14128_14129delinsTT (p.Asp4710Phe)
c.14077_14078delinsTT (p.Asp4693Phe)
c.14056_14057delinsTT (p.Asp4686Phe)
c.13972_13973delinsTT (p.Asp4658Phe)
c.13969_13970delinsTT (p.Asp4657Phe)
c.13963_13964delinsTT (p.Asp4655Phe)
c.12403_12404delinsTT (p.Asp4135Phe)
c.11896_11897delinsTT (p.Asp3966Phe)
c.7363_7364delinsTT (p.Asp2455Phe)
c.14101_14102delinsTT (p.Asp4701Phe)
c.14050_14051delinsTT (p.Asp4684Phe)
n.14611_14612delinsTT
 ClinVar
6g.152330578C>ACA4056070SYNE1c.14107G>T (p.Asp4703Tyr)
c.13894G>T (p.Asp4632Tyr)
c.13297G>T (p.Asp4433Tyr)
c.-1812G>T (n.-1812G>T)
n.1453G>T
c.14128G>T (p.Asp4710Tyr)
c.14077G>T (p.Asp4693Tyr)
c.14056G>T (p.Asp4686Tyr)
c.13972G>T (p.Asp4658Tyr)
c.13969G>T (p.Asp4657Tyr)
c.13963G>T (p.Asp4655Tyr)
c.12403G>T (p.Asp4135Tyr)
c.11896G>T (p.Asp3966Tyr)
c.7363G>T (p.Asp2455Tyr)
c.14101G>T (p.Asp4701Tyr)
c.14050G>T (p.Asp4684Tyr)
n.14611G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330578C=CA1673274084SYNE1c.14107G= (p.Asp4703=)
c.13894G= (p.Asp4632=)
c.13297G= (p.Asp4433=)
c.-1812G= (n.-1812G=)
n.1453G=
c.14128G= (p.Asp4710=)
c.14077G= (p.Asp4693=)
c.14056G= (p.Asp4686=)
c.13972G= (p.Asp4658=)
c.13969G= (p.Asp4657=)
c.13963G= (p.Asp4655=)
c.12403G= (p.Asp4135=)
c.11896G= (p.Asp3966=)
c.7363G= (p.Asp2455=)
c.14101G= (p.Asp4701=)
c.14050G= (p.Asp4684=)
n.14611G=
6g.152330578C>GCA366098714SYNE1c.14107G>C (p.Asp4703His)
c.13894G>C (p.Asp4632His)
c.13297G>C (p.Asp4433His)
c.-1812G>C (n.-1812G>C)
n.1453G>C
c.14128G>C (p.Asp4710His)
c.14077G>C (p.Asp4693His)
c.14056G>C (p.Asp4686His)
c.13972G>C (p.Asp4658His)
c.13969G>C (p.Asp4657His)
c.13963G>C (p.Asp4655His)
c.12403G>C (p.Asp4135His)
c.11896G>C (p.Asp3966His)
c.7363G>C (p.Asp2455His)
c.14101G>C (p.Asp4701His)
c.14050G>C (p.Asp4684His)
n.14611G>C
 dbSNP
6g.152330578C>TCA155367SYNE1c.14107G>A (p.Asp4703Asn)
c.13894G>A (p.Asp4632Asn)
c.13297G>A (p.Asp4433Asn)
c.-1812G>A (n.-1812G>A)
n.1453G>A
c.14128G>A (p.Asp4710Asn)
c.14077G>A (p.Asp4693Asn)
c.14056G>A (p.Asp4686Asn)
c.13972G>A (p.Asp4658Asn)
c.13969G>A (p.Asp4657Asn)
c.13963G>A (p.Asp4655Asn)
c.12403G>A (p.Asp4135Asn)
c.11896G>A (p.Asp3966Asn)
c.7363G>A (p.Asp2455Asn)
c.14101G>A (p.Asp4701Asn)
c.14050G>A (p.Asp4684Asn)
n.14611G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330579G>ACA4056071SYNE1c.14106C>T (p.Thr4702=)
c.13893C>T (p.Thr4631=)
c.13296C>T (p.Thr4432=)
c.-1813C>T (n.-1813C>T)
n.1452C>T
c.14127C>T (p.Thr4709=)
c.14076C>T (p.Thr4692=)
c.14055C>T (p.Thr4685=)
c.13971C>T (p.Thr4657=)
c.13968C>T (p.Thr4656=)
c.13962C>T (p.Thr4654=)
c.12402C>T (p.Thr4134=)
c.11895C>T (p.Thr3965=)
c.7362C>T (p.Thr2454=)
c.14100C>T (p.Thr4700=)
c.14049C>T (p.Thr4683=)
n.14610C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152330579G>CCA452970905SYNE1c.14106C>G (p.Thr4702=)
c.13893C>G (p.Thr4631=)
c.13296C>G (p.Thr4432=)
c.-1813C>G (n.-1813C>G)
n.1452C>G
c.14127C>G (p.Thr4709=)
c.14076C>G (p.Thr4692=)
c.14055C>G (p.Thr4685=)
c.13971C>G (p.Thr4657=)
c.13968C>G (p.Thr4656=)
c.13962C>G (p.Thr4654=)
c.12402C>G (p.Thr4134=)
c.11895C>G (p.Thr3965=)
c.7362C>G (p.Thr2454=)
c.14100C>G (p.Thr4700=)
c.14049C>G (p.Thr4683=)
n.14610C>G
6g.152330579G=CA1673274097SYNE1c.14106C= (p.Thr4702=)
c.13893C= (p.Thr4631=)
c.13296C= (p.Thr4432=)
c.-1813C= (n.-1813C=)
n.1452C=
c.14127C= (p.Thr4709=)
c.14076C= (p.Thr4692=)
c.14055C= (p.Thr4685=)
c.13971C= (p.Thr4657=)
c.13968C= (p.Thr4656=)
c.13962C= (p.Thr4654=)
c.12402C= (p.Thr4134=)
c.11895C= (p.Thr3965=)
c.7362C= (p.Thr2454=)
c.14100C= (p.Thr4700=)
c.14049C= (p.Thr4683=)
n.14610C=
6g.152330579G>TCA4056072SYNE1c.14106C>A (p.Thr4702=)
c.13893C>A (p.Thr4631=)
c.13296C>A (p.Thr4432=)
c.-1813C>A (n.-1813C>A)
n.1452C>A
c.14127C>A (p.Thr4709=)
c.14076C>A (p.Thr4692=)
c.14055C>A (p.Thr4685=)
c.13971C>A (p.Thr4657=)
c.13968C>A (p.Thr4656=)
c.13962C>A (p.Thr4654=)
c.12402C>A (p.Thr4134=)
c.11895C>A (p.Thr3965=)
c.7362C>A (p.Thr2454=)
c.14100C>A (p.Thr4700=)
c.14049C>A (p.Thr4683=)
n.14610C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330580G>ACA150176755SYNE1c.14105C>T (p.Thr4702Ile)
c.13892C>T (p.Thr4631Ile)
c.13295C>T (p.Thr4432Ile)
c.-1814C>T (n.-1814C>T)
n.1451C>T
c.14126C>T (p.Thr4709Ile)
c.14075C>T (p.Thr4692Ile)
c.14054C>T (p.Thr4685Ile)
c.13970C>T (p.Thr4657Ile)
c.13967C>T (p.Thr4656Ile)
c.13961C>T (p.Thr4654Ile)
c.12401C>T (p.Thr4134Ile)
c.11894C>T (p.Thr3965Ile)
c.7361C>T (p.Thr2454Ile)
c.14099C>T (p.Thr4700Ile)
c.14048C>T (p.Thr4683Ile)
n.14609C>T
 dbSNP gnomAD v2 gnomAD v4
6g.152330580G>CCA366098716SYNE1c.14105C>G (p.Thr4702Ser)
c.13892C>G (p.Thr4631Ser)
c.13295C>G (p.Thr4432Ser)
c.-1814C>G (n.-1814C>G)
n.1451C>G
c.14126C>G (p.Thr4709Ser)
c.14075C>G (p.Thr4692Ser)
c.14054C>G (p.Thr4685Ser)
c.13970C>G (p.Thr4657Ser)
c.13967C>G (p.Thr4656Ser)
c.13961C>G (p.Thr4654Ser)
c.12401C>G (p.Thr4134Ser)
c.11894C>G (p.Thr3965Ser)
c.7361C>G (p.Thr2454Ser)
c.14099C>G (p.Thr4700Ser)
c.14048C>G (p.Thr4683Ser)
n.14609C>G
6g.152330580G=CA1673274103SYNE1c.14105C= (p.Thr4702=)
c.13892C= (p.Thr4631=)
c.13295C= (p.Thr4432=)
c.-1814C= (n.-1814C=)
n.1451C=
c.14126C= (p.Thr4709=)
c.14075C= (p.Thr4692=)
c.14054C= (p.Thr4685=)
c.13970C= (p.Thr4657=)
c.13967C= (p.Thr4656=)
c.13961C= (p.Thr4654=)
c.12401C= (p.Thr4134=)
c.11894C= (p.Thr3965=)
c.7361C= (p.Thr2454=)
c.14099C= (p.Thr4700=)
c.14048C= (p.Thr4683=)
n.14609C=
6g.152330580G>TCA366098715SYNE1c.14105C>A (p.Thr4702Asn)
c.13892C>A (p.Thr4631Asn)
c.13295C>A (p.Thr4432Asn)
c.-1814C>A (n.-1814C>A)
n.1451C>A
c.14126C>A (p.Thr4709Asn)
c.14075C>A (p.Thr4692Asn)
c.14054C>A (p.Thr4685Asn)
c.13970C>A (p.Thr4657Asn)
c.13967C>A (p.Thr4656Asn)
c.13961C>A (p.Thr4654Asn)
c.12401C>A (p.Thr4134Asn)
c.11894C>A (p.Thr3965Asn)
c.7361C>A (p.Thr2454Asn)
c.14099C>A (p.Thr4700Asn)
c.14048C>A (p.Thr4683Asn)
n.14609C>A
6g.152330581T>ACA366098717SYNE1c.14104A>T (p.Thr4702Ser)
c.13891A>T (p.Thr4631Ser)
c.13294A>T (p.Thr4432Ser)
c.-1815A>T (n.-1815A>T)
n.1450A>T
c.14125A>T (p.Thr4709Ser)
c.14074A>T (p.Thr4692Ser)
c.14053A>T (p.Thr4685Ser)
c.13969A>T (p.Thr4657Ser)
c.13966A>T (p.Thr4656Ser)
c.13960A>T (p.Thr4654Ser)
c.12400A>T (p.Thr4134Ser)
c.11893A>T (p.Thr3965Ser)
c.7360A>T (p.Thr2454Ser)
c.14098A>T (p.Thr4700Ser)
c.14047A>T (p.Thr4683Ser)
n.14608A>T
6g.152330581T>CCA366098718SYNE1c.14104A>G (p.Thr4702Ala)
c.13891A>G (p.Thr4631Ala)
c.13294A>G (p.Thr4432Ala)
c.-1815A>G (n.-1815A>G)
n.1450A>G
c.14125A>G (p.Thr4709Ala)
c.14074A>G (p.Thr4692Ala)
c.14053A>G (p.Thr4685Ala)
c.13969A>G (p.Thr4657Ala)
c.13966A>G (p.Thr4656Ala)
c.13960A>G (p.Thr4654Ala)
c.12400A>G (p.Thr4134Ala)
c.11893A>G (p.Thr3965Ala)
c.7360A>G (p.Thr2454Ala)
c.14098A>G (p.Thr4700Ala)
c.14047A>G (p.Thr4683Ala)
n.14608A>G
6g.152330581T>GCA366098719SYNE1c.14104A>C (p.Thr4702Pro)
c.13891A>C (p.Thr4631Pro)
c.13294A>C (p.Thr4432Pro)
c.-1815A>C (n.-1815A>C)
n.1450A>C
c.14125A>C (p.Thr4709Pro)
c.14074A>C (p.Thr4692Pro)
c.14053A>C (p.Thr4685Pro)
c.13969A>C (p.Thr4657Pro)
c.13966A>C (p.Thr4656Pro)
c.13960A>C (p.Thr4654Pro)
c.12400A>C (p.Thr4134Pro)
c.11893A>C (p.Thr3965Pro)
c.7360A>C (p.Thr2454Pro)
c.14098A>C (p.Thr4700Pro)
c.14047A>C (p.Thr4683Pro)
n.14608A>C
6g.152330582G>ACA4056073SYNE1c.14103C>T (p.Pro4701=)
c.13890C>T (p.Pro4630=)
c.13293C>T (p.Pro4431=)
c.-1816C>T (n.-1816C>T)
n.1449C>T
c.14124C>T (p.Pro4708=)
c.14073C>T (p.Pro4691=)
c.14052C>T (p.Pro4684=)
c.13968C>T (p.Pro4656=)
c.13965C>T (p.Pro4655=)
c.13959C>T (p.Pro4653=)
c.12399C>T (p.Pro4133=)
c.11892C>T (p.Pro3964=)
c.7359C>T (p.Pro2453=)
c.14097C>T (p.Pro4699=)
c.14046C>T (p.Pro4682=)
n.14607C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152330582G>CCA452970908SYNE1c.14103C>G (p.Pro4701=)
c.13890C>G (p.Pro4630=)
c.13293C>G (p.Pro4431=)
c.-1816C>G (n.-1816C>G)
n.1449C>G
c.14124C>G (p.Pro4708=)
c.14073C>G (p.Pro4691=)
c.14052C>G (p.Pro4684=)
c.13968C>G (p.Pro4656=)
c.13965C>G (p.Pro4655=)
c.13959C>G (p.Pro4653=)
c.12399C>G (p.Pro4133=)
c.11892C>G (p.Pro3964=)
c.7359C>G (p.Pro2453=)
c.14097C>G (p.Pro4699=)
c.14046C>G (p.Pro4682=)
n.14607C>G
6g.152330582G=CA1673274107SYNE1c.14103C= (p.Pro4701=)
c.13890C= (p.Pro4630=)
c.13293C= (p.Pro4431=)
c.-1816C= (n.-1816C=)
n.1449C=
c.14124C= (p.Pro4708=)
c.14073C= (p.Pro4691=)
c.14052C= (p.Pro4684=)
c.13968C= (p.Pro4656=)
c.13965C= (p.Pro4655=)
c.13959C= (p.Pro4653=)
c.12399C= (p.Pro4133=)
c.11892C= (p.Pro3964=)
c.7359C= (p.Pro2453=)
c.14097C= (p.Pro4699=)
c.14046C= (p.Pro4682=)
n.14607C=
6g.152330582G>TCA452970907SYNE1c.14103C>A (p.Pro4701=)
c.13890C>A (p.Pro4630=)
c.13293C>A (p.Pro4431=)
c.-1816C>A (n.-1816C>A)
n.1449C>A
c.14124C>A (p.Pro4708=)
c.14073C>A (p.Pro4691=)
c.14052C>A (p.Pro4684=)
c.13968C>A (p.Pro4656=)
c.13965C>A (p.Pro4655=)
c.13959C>A (p.Pro4653=)
c.12399C>A (p.Pro4133=)
c.11892C>A (p.Pro3964=)
c.7359C>A (p.Pro2453=)
c.14097C>A (p.Pro4699=)
c.14046C>A (p.Pro4682=)
n.14607C>A
6g.152330583G>ACA366098720SYNE1c.14102C>T (p.Pro4701Leu)
c.13889C>T (p.Pro4630Leu)
c.13292C>T (p.Pro4431Leu)
c.-1817C>T (n.-1817C>T)
n.1448C>T
c.14123C>T (p.Pro4708Leu)
c.14072C>T (p.Pro4691Leu)
c.14051C>T (p.Pro4684Leu)
c.13967C>T (p.Pro4656Leu)
c.13964C>T (p.Pro4655Leu)
c.13958C>T (p.Pro4653Leu)
c.12398C>T (p.Pro4133Leu)
c.11891C>T (p.Pro3964Leu)
c.7358C>T (p.Pro2453Leu)
c.14096C>T (p.Pro4699Leu)
c.14045C>T (p.Pro4682Leu)
n.14606C>T
 gnomAD v4
6g.152330583G>CCA366098721SYNE1c.14102C>G (p.Pro4701Arg)
c.13889C>G (p.Pro4630Arg)
c.13292C>G (p.Pro4431Arg)
c.-1817C>G (n.-1817C>G)
n.1448C>G
c.14123C>G (p.Pro4708Arg)
c.14072C>G (p.Pro4691Arg)
c.14051C>G (p.Pro4684Arg)
c.13967C>G (p.Pro4656Arg)
c.13964C>G (p.Pro4655Arg)
c.13958C>G (p.Pro4653Arg)
c.12398C>G (p.Pro4133Arg)
c.11891C>G (p.Pro3964Arg)
c.7358C>G (p.Pro2453Arg)
c.14096C>G (p.Pro4699Arg)
c.14045C>G (p.Pro4682Arg)
n.14606C>G
6g.152330583G>TCA366098722SYNE1c.14102C>A (p.Pro4701His)
c.13889C>A (p.Pro4630His)
c.13292C>A (p.Pro4431His)
c.-1817C>A (n.-1817C>A)
n.1448C>A
c.14123C>A (p.Pro4708His)
c.14072C>A (p.Pro4691His)
c.14051C>A (p.Pro4684His)
c.13967C>A (p.Pro4656His)
c.13964C>A (p.Pro4655His)
c.13958C>A (p.Pro4653His)
c.12398C>A (p.Pro4133His)
c.11891C>A (p.Pro3964His)
c.7358C>A (p.Pro2453His)
c.14096C>A (p.Pro4699His)
c.14045C>A (p.Pro4682His)
n.14606C>A

Number of alleles fetched