Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152151987C>ACA366086875SYNE1c.749G>T (p.Arg250Leu)
c.24284G>T (p.Arg8095Leu)
c.24071G>T (p.Arg8024Leu)
c.19G>T
c.198G>T
c.56G>T (p.Arg19Leu)
c.23069G>T (p.Arg7690Leu)
n.963G>T
c.3050G>T (p.Arg1017Leu)
n.7976G>T
c.2222G>T (p.Arg741Leu)
n.7868G>T
n.829G>T
n.346G>T
n.1121G>T
c.24320G>T (p.Arg8107Leu)
c.24308G>T (p.Arg8103Leu)
c.24299G>T (p.Arg8100Leu)
c.24269G>T (p.Arg8090Leu)
c.24305G>T (p.Arg8102Leu)
c.24248G>T (p.Arg8083Leu)
c.24179G>T (p.Arg8060Leu)
c.24167G>T (p.Arg8056Leu)
c.24164G>T (p.Arg8055Leu)
c.24161G>T (p.Arg8054Leu)
c.24317G>T (p.Arg8106Leu)
c.24155G>T (p.Arg8052Leu)
c.22595G>T (p.Arg7532Leu)
c.22088G>T (p.Arg7363Leu)
c.17555G>T (p.Arg5852Leu)
c.890G>T (p.Arg297Leu)
c.24293G>T (p.Arg8098Leu)
c.24242G>T (p.Arg8081Leu)
 gnomAD v4
6g.152151987C=CA1673186801SYNE1c.749G= (p.Arg250=)
c.24284G= (p.Arg8095=)
c.24071G= (p.Arg8024=)
c.19G=
c.198G=
c.56G= (p.Arg19=)
c.23069G= (p.Arg7690=)
n.963G=
c.3050G= (p.Arg1017=)
n.7976G=
c.2222G= (p.Arg741=)
n.7868G=
n.829G=
n.346G=
n.1121G=
c.24320G= (p.Arg8107=)
c.24308G= (p.Arg8103=)
c.24299G= (p.Arg8100=)
c.24269G= (p.Arg8090=)
c.24305G= (p.Arg8102=)
c.24248G= (p.Arg8083=)
c.24179G= (p.Arg8060=)
c.24167G= (p.Arg8056=)
c.24164G= (p.Arg8055=)
c.24161G= (p.Arg8054=)
c.24317G= (p.Arg8106=)
c.24155G= (p.Arg8052=)
c.22595G= (p.Arg7532=)
c.22088G= (p.Arg7363=)
c.17555G= (p.Arg5852=)
c.890G= (p.Arg297=)
c.24293G= (p.Arg8098=)
c.24242G= (p.Arg8081=)
6g.152151987C>GCA366086876SYNE1c.749G>C (p.Arg250Pro)
c.24284G>C (p.Arg8095Pro)
c.24071G>C (p.Arg8024Pro)
c.19G>C
c.198G>C
c.56G>C (p.Arg19Pro)
c.23069G>C (p.Arg7690Pro)
n.963G>C
c.3050G>C (p.Arg1017Pro)
n.7976G>C
c.2222G>C (p.Arg741Pro)
n.7868G>C
n.829G>C
n.346G>C
n.1121G>C
c.24320G>C (p.Arg8107Pro)
c.24308G>C (p.Arg8103Pro)
c.24299G>C (p.Arg8100Pro)
c.24269G>C (p.Arg8090Pro)
c.24305G>C (p.Arg8102Pro)
c.24248G>C (p.Arg8083Pro)
c.24179G>C (p.Arg8060Pro)
c.24167G>C (p.Arg8056Pro)
c.24164G>C (p.Arg8055Pro)
c.24161G>C (p.Arg8054Pro)
c.24317G>C (p.Arg8106Pro)
c.24155G>C (p.Arg8052Pro)
c.22595G>C (p.Arg7532Pro)
c.22088G>C (p.Arg7363Pro)
c.17555G>C (p.Arg5852Pro)
c.890G>C (p.Arg297Pro)
c.24293G>C (p.Arg8098Pro)
c.24242G>C (p.Arg8081Pro)
6g.152151987C>TCA115484SYNE1c.749G>A (p.Arg250His)
c.24284G>A (p.Arg8095His)
c.24071G>A (p.Arg8024His)
c.19G>A
c.198G>A
c.56G>A (p.Arg19His)
c.23069G>A (p.Arg7690His)
n.963G>A
c.3050G>A (p.Arg1017His)
n.7976G>A
c.2222G>A (p.Arg741His)
n.7868G>A
n.829G>A
n.346G>A
n.1121G>A
c.24320G>A (p.Arg8107His)
c.24308G>A (p.Arg8103His)
c.24299G>A (p.Arg8100His)
c.24269G>A (p.Arg8090His)
c.24305G>A (p.Arg8102His)
c.24248G>A (p.Arg8083His)
c.24179G>A (p.Arg8060His)
c.24167G>A (p.Arg8056His)
c.24164G>A (p.Arg8055His)
c.24161G>A (p.Arg8054His)
c.24317G>A (p.Arg8106His)
c.24155G>A (p.Arg8052His)
c.22595G>A (p.Arg7532His)
c.22088G>A (p.Arg7363His)
c.17555G>A (p.Arg5852His)
c.890G>A (p.Arg297His)
c.24293G>A (p.Arg8098His)
c.24242G>A (p.Arg8081His)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152151988G>ACA4053227SYNE1c.748C>T (p.Arg250Cys)
c.24283C>T (p.Arg8095Cys)
c.24070C>T (p.Arg8024Cys)
c.18C>T
c.197C>T
c.55C>T (p.Arg19Cys)
c.23068C>T (p.Arg7690Cys)
n.962C>T
c.3049C>T (p.Arg1017Cys)
n.7975C>T
c.2221C>T (p.Arg741Cys)
n.7867C>T
n.828C>T
n.345C>T
n.1120C>T
c.24319C>T (p.Arg8107Cys)
c.24307C>T (p.Arg8103Cys)
c.24298C>T (p.Arg8100Cys)
c.24268C>T (p.Arg8090Cys)
c.24304C>T (p.Arg8102Cys)
c.24247C>T (p.Arg8083Cys)
c.24178C>T (p.Arg8060Cys)
c.24166C>T (p.Arg8056Cys)
c.24163C>T (p.Arg8055Cys)
c.24160C>T (p.Arg8054Cys)
c.24316C>T (p.Arg8106Cys)
c.24154C>T (p.Arg8052Cys)
c.22594C>T (p.Arg7532Cys)
c.22087C>T (p.Arg7363Cys)
c.17554C>T (p.Arg5852Cys)
c.889C>T (p.Arg297Cys)
c.24292C>T (p.Arg8098Cys)
c.24241C>T (p.Arg8081Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152151988G>CCA366086877SYNE1c.748C>G (p.Arg250Gly)
c.24283C>G (p.Arg8095Gly)
c.24070C>G (p.Arg8024Gly)
c.18C>G
c.197C>G
c.55C>G (p.Arg19Gly)
c.23068C>G (p.Arg7690Gly)
n.962C>G
c.3049C>G (p.Arg1017Gly)
n.7975C>G
c.2221C>G (p.Arg741Gly)
n.7867C>G
n.828C>G
n.345C>G
n.1120C>G
c.24319C>G (p.Arg8107Gly)
c.24307C>G (p.Arg8103Gly)
c.24298C>G (p.Arg8100Gly)
c.24268C>G (p.Arg8090Gly)
c.24304C>G (p.Arg8102Gly)
c.24247C>G (p.Arg8083Gly)
c.24178C>G (p.Arg8060Gly)
c.24166C>G (p.Arg8056Gly)
c.24163C>G (p.Arg8055Gly)
c.24160C>G (p.Arg8054Gly)
c.24316C>G (p.Arg8106Gly)
c.24154C>G (p.Arg8052Gly)
c.22594C>G (p.Arg7532Gly)
c.22087C>G (p.Arg7363Gly)
c.17554C>G (p.Arg5852Gly)
c.889C>G (p.Arg297Gly)
c.24292C>G (p.Arg8098Gly)
c.24241C>G (p.Arg8081Gly)
6g.152151988G=CA1673186812SYNE1c.748C= (p.Arg250=)
c.24283C= (p.Arg8095=)
c.24070C= (p.Arg8024=)
c.18C=
c.197C=
c.55C= (p.Arg19=)
c.23068C= (p.Arg7690=)
n.962C=
c.3049C= (p.Arg1017=)
n.7975C=
c.2221C= (p.Arg741=)
n.7867C=
n.828C=
n.345C=
n.1120C=
c.24319C= (p.Arg8107=)
c.24307C= (p.Arg8103=)
c.24298C= (p.Arg8100=)
c.24268C= (p.Arg8090=)
c.24304C= (p.Arg8102=)
c.24247C= (p.Arg8083=)
c.24178C= (p.Arg8060=)
c.24166C= (p.Arg8056=)
c.24163C= (p.Arg8055=)
c.24160C= (p.Arg8054=)
c.24316C= (p.Arg8106=)
c.24154C= (p.Arg8052=)
c.22594C= (p.Arg7532=)
c.22087C= (p.Arg7363=)
c.17554C= (p.Arg5852=)
c.889C= (p.Arg297=)
c.24292C= (p.Arg8098=)
c.24241C= (p.Arg8081=)
6g.152151988G>TCA366086878SYNE1c.748C>A (p.Arg250Ser)
c.24283C>A (p.Arg8095Ser)
c.24070C>A (p.Arg8024Ser)
c.18C>A
c.197C>A
c.55C>A (p.Arg19Ser)
c.23068C>A (p.Arg7690Ser)
n.962C>A
c.3049C>A (p.Arg1017Ser)
n.7975C>A
c.2221C>A (p.Arg741Ser)
n.7867C>A
n.828C>A
n.345C>A
n.1120C>A
c.24319C>A (p.Arg8107Ser)
c.24307C>A (p.Arg8103Ser)
c.24298C>A (p.Arg8100Ser)
c.24268C>A (p.Arg8090Ser)
c.24304C>A (p.Arg8102Ser)
c.24247C>A (p.Arg8083Ser)
c.24178C>A (p.Arg8060Ser)
c.24166C>A (p.Arg8056Ser)
c.24163C>A (p.Arg8055Ser)
c.24160C>A (p.Arg8054Ser)
c.24316C>A (p.Arg8106Ser)
c.24154C>A (p.Arg8052Ser)
c.22594C>A (p.Arg7532Ser)
c.22087C>A (p.Arg7363Ser)
c.17554C>A (p.Arg5852Ser)
c.889C>A (p.Arg297Ser)
c.24292C>A (p.Arg8098Ser)
c.24241C>A (p.Arg8081Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.152151989C>ACA366086879SYNE1c.747G>T (p.Lys249Asn)
c.24282G>T (p.Lys8094Asn)
c.24069G>T (p.Lys8023Asn)
c.17G>T
c.196G>T
c.54G>T (p.Lys18Asn)
c.23067G>T (p.Lys7689Asn)
n.961G>T
c.3048G>T (p.Lys1016Asn)
n.7974G>T
c.2220G>T (p.Lys740Asn)
n.7866G>T
n.827G>T
n.344G>T
n.1119G>T
c.24318G>T (p.Lys8106Asn)
c.24306G>T (p.Lys8102Asn)
c.24297G>T (p.Lys8099Asn)
c.24267G>T (p.Lys8089Asn)
c.24303G>T (p.Lys8101Asn)
c.24246G>T (p.Lys8082Asn)
c.24177G>T (p.Lys8059Asn)
c.24165G>T (p.Lys8055Asn)
c.24162G>T (p.Lys8054Asn)
c.24159G>T (p.Lys8053Asn)
c.24315G>T (p.Lys8105Asn)
c.24153G>T (p.Lys8051Asn)
c.22593G>T (p.Lys7531Asn)
c.22086G>T (p.Lys7362Asn)
c.17553G>T (p.Lys5851Asn)
c.888G>T (p.Lys296Asn)
c.24291G>T (p.Lys8097Asn)
c.24240G>T (p.Lys8080Asn)
6g.152151989C=CA1673186817SYNE1c.747G= (p.Lys249=)
c.24282G= (p.Lys8094=)
c.24069G= (p.Lys8023=)
c.17G=
c.196G=
c.54G= (p.Lys18=)
c.23067G= (p.Lys7689=)
n.961G=
c.3048G= (p.Lys1016=)
n.7974G=
c.2220G= (p.Lys740=)
n.7866G=
n.827G=
n.344G=
n.1119G=
c.24318G= (p.Lys8106=)
c.24306G= (p.Lys8102=)
c.24297G= (p.Lys8099=)
c.24267G= (p.Lys8089=)
c.24303G= (p.Lys8101=)
c.24246G= (p.Lys8082=)
c.24177G= (p.Lys8059=)
c.24165G= (p.Lys8055=)
c.24162G= (p.Lys8054=)
c.24159G= (p.Lys8053=)
c.24315G= (p.Lys8105=)
c.24153G= (p.Lys8051=)
c.22593G= (p.Lys7531=)
c.22086G= (p.Lys7362=)
c.17553G= (p.Lys5851=)
c.888G= (p.Lys296=)
c.24291G= (p.Lys8097=)
c.24240G= (p.Lys8080=)
6g.152151989C>GCA366086880SYNE1c.747G>C (p.Lys249Asn)
c.24282G>C (p.Lys8094Asn)
c.24069G>C (p.Lys8023Asn)
c.17G>C
c.196G>C
c.54G>C (p.Lys18Asn)
c.23067G>C (p.Lys7689Asn)
n.961G>C
c.3048G>C (p.Lys1016Asn)
n.7974G>C
c.2220G>C (p.Lys740Asn)
n.7866G>C
n.827G>C
n.344G>C
n.1119G>C
c.24318G>C (p.Lys8106Asn)
c.24306G>C (p.Lys8102Asn)
c.24297G>C (p.Lys8099Asn)
c.24267G>C (p.Lys8089Asn)
c.24303G>C (p.Lys8101Asn)
c.24246G>C (p.Lys8082Asn)
c.24177G>C (p.Lys8059Asn)
c.24165G>C (p.Lys8055Asn)
c.24162G>C (p.Lys8054Asn)
c.24159G>C (p.Lys8053Asn)
c.24315G>C (p.Lys8105Asn)
c.24153G>C (p.Lys8051Asn)
c.22593G>C (p.Lys7531Asn)
c.22086G>C (p.Lys7362Asn)
c.17553G>C (p.Lys5851Asn)
c.888G>C (p.Lys296Asn)
c.24291G>C (p.Lys8097Asn)
c.24240G>C (p.Lys8080Asn)
6g.152151989C>TCA452748223SYNE1c.747G>A (p.Lys249=)
c.24282G>A (p.Lys8094=)
c.24069G>A (p.Lys8023=)
c.17G>A
c.196G>A
c.54G>A (p.Lys18=)
c.23067G>A (p.Lys7689=)
n.961G>A
c.3048G>A (p.Lys1016=)
n.7974G>A
c.2220G>A (p.Lys740=)
n.7866G>A
n.827G>A
n.344G>A
n.1119G>A
c.24318G>A (p.Lys8106=)
c.24306G>A (p.Lys8102=)
c.24297G>A (p.Lys8099=)
c.24267G>A (p.Lys8089=)
c.24303G>A (p.Lys8101=)
c.24246G>A (p.Lys8082=)
c.24177G>A (p.Lys8059=)
c.24165G>A (p.Lys8055=)
c.24162G>A (p.Lys8054=)
c.24159G>A (p.Lys8053=)
c.24315G>A (p.Lys8105=)
c.24153G>A (p.Lys8051=)
c.22593G>A (p.Lys7531=)
c.22086G>A (p.Lys7362=)
c.17553G>A (p.Lys5851=)
c.888G>A (p.Lys296=)
c.24291G>A (p.Lys8097=)
c.24240G>A (p.Lys8080=)
 dbSNP
6g.152151990T>ACA366086881SYNE1c.746A>T (p.Lys249Met)
c.24281A>T (p.Lys8094Met)
c.24068A>T (p.Lys8023Met)
c.16A>T
c.195A>T
c.53A>T (p.Lys18Met)
c.23066A>T (p.Lys7689Met)
n.960A>T
c.3047A>T (p.Lys1016Met)
n.7973A>T
c.2219A>T (p.Lys740Met)
n.7865A>T
n.826A>T
n.343A>T
n.1118A>T
c.24317A>T (p.Lys8106Met)
c.24305A>T (p.Lys8102Met)
c.24296A>T (p.Lys8099Met)
c.24266A>T (p.Lys8089Met)
c.24302A>T (p.Lys8101Met)
c.24245A>T (p.Lys8082Met)
c.24176A>T (p.Lys8059Met)
c.24164A>T (p.Lys8055Met)
c.24161A>T (p.Lys8054Met)
c.24158A>T (p.Lys8053Met)
c.24314A>T (p.Lys8105Met)
c.24152A>T (p.Lys8051Met)
c.22592A>T (p.Lys7531Met)
c.22085A>T (p.Lys7362Met)
c.17552A>T (p.Lys5851Met)
c.887A>T (p.Lys296Met)
c.24290A>T (p.Lys8097Met)
c.24239A>T (p.Lys8080Met)
6g.152151990T>CCA366086882SYNE1c.746A>G (p.Lys249Arg)
c.24281A>G (p.Lys8094Arg)
c.24068A>G (p.Lys8023Arg)
c.16A>G
c.195A>G
c.53A>G (p.Lys18Arg)
c.23066A>G (p.Lys7689Arg)
n.960A>G
c.3047A>G (p.Lys1016Arg)
n.7973A>G
c.2219A>G (p.Lys740Arg)
n.7865A>G
n.826A>G
n.343A>G
n.1118A>G
c.24317A>G (p.Lys8106Arg)
c.24305A>G (p.Lys8102Arg)
c.24296A>G (p.Lys8099Arg)
c.24266A>G (p.Lys8089Arg)
c.24302A>G (p.Lys8101Arg)
c.24245A>G (p.Lys8082Arg)
c.24176A>G (p.Lys8059Arg)
c.24164A>G (p.Lys8055Arg)
c.24161A>G (p.Lys8054Arg)
c.24158A>G (p.Lys8053Arg)
c.24314A>G (p.Lys8105Arg)
c.24152A>G (p.Lys8051Arg)
c.22592A>G (p.Lys7531Arg)
c.22085A>G (p.Lys7362Arg)
c.17552A>G (p.Lys5851Arg)
c.887A>G (p.Lys296Arg)
c.24290A>G (p.Lys8097Arg)
c.24239A>G (p.Lys8080Arg)
 gnomAD v4
6g.152151990T>GCA366086883SYNE1c.746A>C (p.Lys249Thr)
c.24281A>C (p.Lys8094Thr)
c.24068A>C (p.Lys8023Thr)
c.16A>C
c.195A>C
c.53A>C (p.Lys18Thr)
c.23066A>C (p.Lys7689Thr)
n.960A>C
c.3047A>C (p.Lys1016Thr)
n.7973A>C
c.2219A>C (p.Lys740Thr)
n.7865A>C
n.826A>C
n.343A>C
n.1118A>C
c.24317A>C (p.Lys8106Thr)
c.24305A>C (p.Lys8102Thr)
c.24296A>C (p.Lys8099Thr)
c.24266A>C (p.Lys8089Thr)
c.24302A>C (p.Lys8101Thr)
c.24245A>C (p.Lys8082Thr)
c.24176A>C (p.Lys8059Thr)
c.24164A>C (p.Lys8055Thr)
c.24161A>C (p.Lys8054Thr)
c.24158A>C (p.Lys8053Thr)
c.24314A>C (p.Lys8105Thr)
c.24152A>C (p.Lys8051Thr)
c.22592A>C (p.Lys7531Thr)
c.22085A>C (p.Lys7362Thr)
c.17552A>C (p.Lys5851Thr)
c.887A>C (p.Lys296Thr)
c.24290A>C (p.Lys8097Thr)
c.24239A>C (p.Lys8080Thr)
6g.152151993dupCA4053228SYNE1c.746dup (p.Arg250AlafsTer17)
c.24281dup (p.Arg8095AlafsTer17)
c.24068dup (p.Arg8024AlafsTer17)
c.16dup
c.195dup
c.53dup (p.Arg19AlafsTer17)
c.23066dup (p.Arg7690AlafsTer17)
n.960dup
c.3047dup (p.Arg1017AlafsTer17)
n.7973dup
c.2219dup (p.Arg741AlafsTer17)
n.7865dup
n.826dup
n.343dup
n.1118dup
c.24317dup (p.Arg8107AlafsTer17)
c.24305dup (p.Arg8103AlafsTer17)
c.24296dup (p.Arg8100AlafsTer17)
c.24266dup (p.Arg8090AlafsTer17)
c.24302dup (p.Arg8102AlafsTer17)
c.24245dup (p.Arg8083AlafsTer17)
c.24176dup (p.Arg8060AlafsTer17)
c.24164dup (p.Arg8056AlafsTer17)
c.24161dup (p.Arg8055AlafsTer17)
c.24158dup (p.Arg8054AlafsTer17)
c.24314dup (p.Arg8106AlafsTer17)
c.24152dup (p.Arg8052AlafsTer17)
c.22592dup (p.Arg7532AlafsTer17)
c.22085dup (p.Arg7363AlafsTer17)
c.17552dup (p.Arg5852AlafsTer17)
c.887dup (p.Arg297AlafsTer17)
c.24290dup (p.Arg8098AlafsTer17)
c.24239dup (p.Arg8081AlafsTer17)
 dbSNP ExAC gnomAD v2
6g.152151991T>ACA366086884SYNE1c.745A>T (p.Lys249Ter)
c.24280A>T (p.Lys8094Ter)
c.24067A>T (p.Lys8023Ter)
c.15A>T
c.194A>T
c.52A>T (p.Lys18Ter)
c.23065A>T (p.Lys7689Ter)
n.959A>T
c.3046A>T (p.Lys1016Ter)
n.7972A>T
c.2218A>T (p.Lys740Ter)
n.7864A>T
n.825A>T
n.342A>T
n.1117A>T
c.24316A>T (p.Lys8106Ter)
c.24304A>T (p.Lys8102Ter)
c.24295A>T (p.Lys8099Ter)
c.24265A>T (p.Lys8089Ter)
c.24301A>T (p.Lys8101Ter)
c.24244A>T (p.Lys8082Ter)
c.24175A>T (p.Lys8059Ter)
c.24163A>T (p.Lys8055Ter)
c.24160A>T (p.Lys8054Ter)
c.24157A>T (p.Lys8053Ter)
c.24313A>T (p.Lys8105Ter)
c.24151A>T (p.Lys8051Ter)
c.22591A>T (p.Lys7531Ter)
c.22084A>T (p.Lys7362Ter)
c.17551A>T (p.Lys5851Ter)
c.886A>T (p.Lys296Ter)
c.24289A>T (p.Lys8097Ter)
c.24238A>T (p.Lys8080Ter)
6g.152151991T>CCA366086885SYNE1c.745A>G (p.Lys249Glu)
c.24280A>G (p.Lys8094Glu)
c.24067A>G (p.Lys8023Glu)
c.15A>G
c.194A>G
c.52A>G (p.Lys18Glu)
c.23065A>G (p.Lys7689Glu)
n.959A>G
c.3046A>G (p.Lys1016Glu)
n.7972A>G
c.2218A>G (p.Lys740Glu)
n.7864A>G
n.825A>G
n.342A>G
n.1117A>G
c.24316A>G (p.Lys8106Glu)
c.24304A>G (p.Lys8102Glu)
c.24295A>G (p.Lys8099Glu)
c.24265A>G (p.Lys8089Glu)
c.24301A>G (p.Lys8101Glu)
c.24244A>G (p.Lys8082Glu)
c.24175A>G (p.Lys8059Glu)
c.24163A>G (p.Lys8055Glu)
c.24160A>G (p.Lys8054Glu)
c.24157A>G (p.Lys8053Glu)
c.24313A>G (p.Lys8105Glu)
c.24151A>G (p.Lys8051Glu)
c.22591A>G (p.Lys7531Glu)
c.22084A>G (p.Lys7362Glu)
c.17551A>G (p.Lys5851Glu)
c.886A>G (p.Lys296Glu)
c.24289A>G (p.Lys8097Glu)
c.24238A>G (p.Lys8080Glu)
6g.152151991T>GCA366086886SYNE1c.745A>C (p.Lys249Gln)
c.24280A>C (p.Lys8094Gln)
c.24067A>C (p.Lys8023Gln)
c.15A>C
c.194A>C
c.52A>C (p.Lys18Gln)
c.23065A>C (p.Lys7689Gln)
n.959A>C
c.3046A>C (p.Lys1016Gln)
n.7972A>C
c.2218A>C (p.Lys740Gln)
n.7864A>C
n.825A>C
n.342A>C
n.1117A>C
c.24316A>C (p.Lys8106Gln)
c.24304A>C (p.Lys8102Gln)
c.24295A>C (p.Lys8099Gln)
c.24265A>C (p.Lys8089Gln)
c.24301A>C (p.Lys8101Gln)
c.24244A>C (p.Lys8082Gln)
c.24175A>C (p.Lys8059Gln)
c.24163A>C (p.Lys8055Gln)
c.24160A>C (p.Lys8054Gln)
c.24157A>C (p.Lys8053Gln)
c.24313A>C (p.Lys8105Gln)
c.24151A>C (p.Lys8051Gln)
c.22591A>C (p.Lys7531Gln)
c.22084A>C (p.Lys7362Gln)
c.17551A>C (p.Lys5851Gln)
c.886A>C (p.Lys296Gln)
c.24289A>C (p.Lys8097Gln)
c.24238A>C (p.Lys8080Gln)
6g.152151992T>ACA366086888SYNE1c.744A>T (p.Gln248His)
c.24279A>T (p.Gln8093His)
c.24066A>T (p.Gln8022His)
c.14A>T
c.193A>T
c.51A>T (p.Gln17His)
c.23064A>T (p.Gln7688His)
n.958A>T
c.3045A>T (p.Gln1015His)
n.7971A>T
c.2217A>T (p.Gln739His)
n.7863A>T
n.824A>T
n.341A>T
n.1116A>T
c.24315A>T (p.Gln8105His)
c.24303A>T (p.Gln8101His)
c.24294A>T (p.Gln8098His)
c.24264A>T (p.Gln8088His)
c.24300A>T (p.Gln8100His)
c.24243A>T (p.Gln8081His)
c.24174A>T (p.Gln8058His)
c.24162A>T (p.Gln8054His)
c.24159A>T (p.Gln8053His)
c.24156A>T (p.Gln8052His)
c.24312A>T (p.Gln8104His)
c.24150A>T (p.Gln8050His)
c.22590A>T (p.Gln7530His)
c.22083A>T (p.Gln7361His)
c.17550A>T (p.Gln5850His)
c.885A>T (p.Gln295His)
c.24288A>T (p.Gln8096His)
c.24237A>T (p.Gln8079His)
6g.152151992T>CCA452748225SYNE1c.744A>G (p.Gln248=)
c.24279A>G (p.Gln8093=)
c.24066A>G (p.Gln8022=)
c.14A>G
c.193A>G
c.51A>G (p.Gln17=)
c.23064A>G (p.Gln7688=)
n.958A>G
c.3045A>G (p.Gln1015=)
n.7971A>G
c.2217A>G (p.Gln739=)
n.7863A>G
n.824A>G
n.341A>G
n.1116A>G
c.24315A>G (p.Gln8105=)
c.24303A>G (p.Gln8101=)
c.24294A>G (p.Gln8098=)
c.24264A>G (p.Gln8088=)
c.24300A>G (p.Gln8100=)
c.24243A>G (p.Gln8081=)
c.24174A>G (p.Gln8058=)
c.24162A>G (p.Gln8054=)
c.24159A>G (p.Gln8053=)
c.24156A>G (p.Gln8052=)
c.24312A>G (p.Gln8104=)
c.24150A>G (p.Gln8050=)
c.22590A>G (p.Gln7530=)
c.22083A>G (p.Gln7361=)
c.17550A>G (p.Gln5850=)
c.885A>G (p.Gln295=)
c.24288A>G (p.Gln8096=)
c.24237A>G (p.Gln8079=)
6g.152151992T>GCA366086887SYNE1c.744A>C (p.Gln248His)
c.24279A>C (p.Gln8093His)
c.24066A>C (p.Gln8022His)
c.14A>C
c.193A>C
c.51A>C (p.Gln17His)
c.23064A>C (p.Gln7688His)
n.958A>C
c.3045A>C (p.Gln1015His)
n.7971A>C
c.2217A>C (p.Gln739His)
n.7863A>C
n.824A>C
n.341A>C
n.1116A>C
c.24315A>C (p.Gln8105His)
c.24303A>C (p.Gln8101His)
c.24294A>C (p.Gln8098His)
c.24264A>C (p.Gln8088His)
c.24300A>C (p.Gln8100His)
c.24243A>C (p.Gln8081His)
c.24174A>C (p.Gln8058His)
c.24162A>C (p.Gln8054His)
c.24159A>C (p.Gln8053His)
c.24156A>C (p.Gln8052His)
c.24312A>C (p.Gln8104His)
c.24150A>C (p.Gln8050His)
c.22590A>C (p.Gln7530His)
c.22083A>C (p.Gln7361His)
c.17550A>C (p.Gln5850His)
c.885A>C (p.Gln295His)
c.24288A>C (p.Gln8096His)
c.24237A>C (p.Gln8079His)
6g.152151993T>ACA366086889SYNE1c.743A>T (p.Gln248Leu)
c.24278A>T (p.Gln8093Leu)
c.24065A>T (p.Gln8022Leu)
c.13A>T
c.192A>T
c.50A>T (p.Gln17Leu)
c.23063A>T (p.Gln7688Leu)
n.957A>T
c.3044A>T (p.Gln1015Leu)
n.7970A>T
c.2216A>T (p.Gln739Leu)
n.7862A>T
n.823A>T
n.340A>T
n.1115A>T
c.24314A>T (p.Gln8105Leu)
c.24302A>T (p.Gln8101Leu)
c.24293A>T (p.Gln8098Leu)
c.24263A>T (p.Gln8088Leu)
c.24299A>T (p.Gln8100Leu)
c.24242A>T (p.Gln8081Leu)
c.24173A>T (p.Gln8058Leu)
c.24161A>T (p.Gln8054Leu)
c.24158A>T (p.Gln8053Leu)
c.24155A>T (p.Gln8052Leu)
c.24311A>T (p.Gln8104Leu)
c.24149A>T (p.Gln8050Leu)
c.22589A>T (p.Gln7530Leu)
c.22082A>T (p.Gln7361Leu)
c.17549A>T (p.Gln5850Leu)
c.884A>T (p.Gln295Leu)
c.24287A>T (p.Gln8096Leu)
c.24236A>T (p.Gln8079Leu)
6g.152151993T>CCA366086890SYNE1c.743A>G (p.Gln248Arg)
c.24278A>G (p.Gln8093Arg)
c.24065A>G (p.Gln8022Arg)
c.13A>G
c.192A>G
c.50A>G (p.Gln17Arg)
c.23063A>G (p.Gln7688Arg)
n.957A>G
c.3044A>G (p.Gln1015Arg)
n.7970A>G
c.2216A>G (p.Gln739Arg)
n.7862A>G
n.823A>G
n.340A>G
n.1115A>G
c.24314A>G (p.Gln8105Arg)
c.24302A>G (p.Gln8101Arg)
c.24293A>G (p.Gln8098Arg)
c.24263A>G (p.Gln8088Arg)
c.24299A>G (p.Gln8100Arg)
c.24242A>G (p.Gln8081Arg)
c.24173A>G (p.Gln8058Arg)
c.24161A>G (p.Gln8054Arg)
c.24158A>G (p.Gln8053Arg)
c.24155A>G (p.Gln8052Arg)
c.24311A>G (p.Gln8104Arg)
c.24149A>G (p.Gln8050Arg)
c.22589A>G (p.Gln7530Arg)
c.22082A>G (p.Gln7361Arg)
c.17549A>G (p.Gln5850Arg)
c.884A>G (p.Gln295Arg)
c.24287A>G (p.Gln8096Arg)
c.24236A>G (p.Gln8079Arg)
6g.152151993T>GCA366086891SYNE1c.743A>C (p.Gln248Pro)
c.24278A>C (p.Gln8093Pro)
c.24065A>C (p.Gln8022Pro)
c.13A>C
c.192A>C
c.50A>C (p.Gln17Pro)
c.23063A>C (p.Gln7688Pro)
n.957A>C
c.3044A>C (p.Gln1015Pro)
n.7970A>C
c.2216A>C (p.Gln739Pro)
n.7862A>C
n.823A>C
n.340A>C
n.1115A>C
c.24314A>C (p.Gln8105Pro)
c.24302A>C (p.Gln8101Pro)
c.24293A>C (p.Gln8098Pro)
c.24263A>C (p.Gln8088Pro)
c.24299A>C (p.Gln8100Pro)
c.24242A>C (p.Gln8081Pro)
c.24173A>C (p.Gln8058Pro)
c.24161A>C (p.Gln8054Pro)
c.24158A>C (p.Gln8053Pro)
c.24155A>C (p.Gln8052Pro)
c.24311A>C (p.Gln8104Pro)
c.24149A>C (p.Gln8050Pro)
c.22589A>C (p.Gln7530Pro)
c.22082A>C (p.Gln7361Pro)
c.17549A>C (p.Gln5850Pro)
c.884A>C (p.Gln295Pro)
c.24287A>C (p.Gln8096Pro)
c.24236A>C (p.Gln8079Pro)
6g.152151994G>ACA366086892SYNE1c.742C>T (p.Gln248Ter)
c.24277C>T (p.Gln8093Ter)
c.24064C>T (p.Gln8022Ter)
c.12C>T
c.191C>T
c.49C>T (p.Gln17Ter)
c.23062C>T (p.Gln7688Ter)
n.956C>T
c.3043C>T (p.Gln1015Ter)
n.7969C>T
c.2215C>T (p.Gln739Ter)
n.7861C>T
n.822C>T
n.339C>T
n.1114C>T
c.24313C>T (p.Gln8105Ter)
c.24301C>T (p.Gln8101Ter)
c.24292C>T (p.Gln8098Ter)
c.24262C>T (p.Gln8088Ter)
c.24298C>T (p.Gln8100Ter)
c.24241C>T (p.Gln8081Ter)
c.24172C>T (p.Gln8058Ter)
c.24160C>T (p.Gln8054Ter)
c.24157C>T (p.Gln8053Ter)
c.24154C>T (p.Gln8052Ter)
c.24310C>T (p.Gln8104Ter)
c.24148C>T (p.Gln8050Ter)
c.22588C>T (p.Gln7530Ter)
c.22081C>T (p.Gln7361Ter)
c.17548C>T (p.Gln5850Ter)
c.883C>T (p.Gln295Ter)
c.24286C>T (p.Gln8096Ter)
c.24235C>T (p.Gln8079Ter)
6g.152151994G>CCA366086893SYNE1c.742C>G (p.Gln248Glu)
c.24277C>G (p.Gln8093Glu)
c.24064C>G (p.Gln8022Glu)
c.12C>G
c.191C>G
c.49C>G (p.Gln17Glu)
c.23062C>G (p.Gln7688Glu)
n.956C>G
c.3043C>G (p.Gln1015Glu)
n.7969C>G
c.2215C>G (p.Gln739Glu)
n.7861C>G
n.822C>G
n.339C>G
n.1114C>G
c.24313C>G (p.Gln8105Glu)
c.24301C>G (p.Gln8101Glu)
c.24292C>G (p.Gln8098Glu)
c.24262C>G (p.Gln8088Glu)
c.24298C>G (p.Gln8100Glu)
c.24241C>G (p.Gln8081Glu)
c.24172C>G (p.Gln8058Glu)
c.24160C>G (p.Gln8054Glu)
c.24157C>G (p.Gln8053Glu)
c.24154C>G (p.Gln8052Glu)
c.24310C>G (p.Gln8104Glu)
c.24148C>G (p.Gln8050Glu)
c.22588C>G (p.Gln7530Glu)
c.22081C>G (p.Gln7361Glu)
c.17548C>G (p.Gln5850Glu)
c.883C>G (p.Gln295Glu)
c.24286C>G (p.Gln8096Glu)
c.24235C>G (p.Gln8079Glu)
6g.152151994G>TCA366086894SYNE1c.742C>A (p.Gln248Lys)
c.24277C>A (p.Gln8093Lys)
c.24064C>A (p.Gln8022Lys)
c.12C>A
c.191C>A
c.49C>A (p.Gln17Lys)
c.23062C>A (p.Gln7688Lys)
n.956C>A
c.3043C>A (p.Gln1015Lys)
n.7969C>A
c.2215C>A (p.Gln739Lys)
n.7861C>A
n.822C>A
n.339C>A
n.1114C>A
c.24313C>A (p.Gln8105Lys)
c.24301C>A (p.Gln8101Lys)
c.24292C>A (p.Gln8098Lys)
c.24262C>A (p.Gln8088Lys)
c.24298C>A (p.Gln8100Lys)
c.24241C>A (p.Gln8081Lys)
c.24172C>A (p.Gln8058Lys)
c.24160C>A (p.Gln8054Lys)
c.24157C>A (p.Gln8053Lys)
c.24154C>A (p.Gln8052Lys)
c.24310C>A (p.Gln8104Lys)
c.24148C>A (p.Gln8050Lys)
c.22588C>A (p.Gln7530Lys)
c.22081C>A (p.Gln7361Lys)
c.17548C>A (p.Gln5850Lys)
c.883C>A (p.Gln295Lys)
c.24286C>A (p.Gln8096Lys)
c.24235C>A (p.Gln8079Lys)
6g.152151995C>ACA452748228SYNE1c.741G>T (p.Leu247=)
c.24276G>T (p.Leu8092=)
c.24063G>T (p.Leu8021=)
c.11G>T
c.190G>T
c.48G>T (p.Leu16=)
c.23061G>T (p.Leu7687=)
n.955G>T
c.3042G>T (p.Leu1014=)
n.7968G>T
c.2214G>T (p.Leu738=)
n.7860G>T
n.821G>T
n.338G>T
n.1113G>T
c.24312G>T (p.Leu8104=)
c.24300G>T (p.Leu8100=)
c.24291G>T (p.Leu8097=)
c.24261G>T (p.Leu8087=)
c.24297G>T (p.Leu8099=)
c.24240G>T (p.Leu8080=)
c.24171G>T (p.Leu8057=)
c.24159G>T (p.Leu8053=)
c.24156G>T (p.Leu8052=)
c.24153G>T (p.Leu8051=)
c.24309G>T (p.Leu8103=)
c.24147G>T (p.Leu8049=)
c.22587G>T (p.Leu7529=)
c.22080G>T (p.Leu7360=)
c.17547G>T (p.Leu5849=)
c.882G>T (p.Leu294=)
c.24285G>T (p.Leu8095=)
c.24234G>T (p.Leu8078=)
6g.152151995C=CA1673186824SYNE1c.741G= (p.Leu247=)
c.24276G= (p.Leu8092=)
c.24063G= (p.Leu8021=)
c.11G=
c.190G=
c.48G= (p.Leu16=)
c.23061G= (p.Leu7687=)
n.955G=
c.3042G= (p.Leu1014=)
n.7968G=
c.2214G= (p.Leu738=)
n.7860G=
n.821G=
n.338G=
n.1113G=
c.24312G= (p.Leu8104=)
c.24300G= (p.Leu8100=)
c.24291G= (p.Leu8097=)
c.24261G= (p.Leu8087=)
c.24297G= (p.Leu8099=)
c.24240G= (p.Leu8080=)
c.24171G= (p.Leu8057=)
c.24159G= (p.Leu8053=)
c.24156G= (p.Leu8052=)
c.24153G= (p.Leu8051=)
c.24309G= (p.Leu8103=)
c.24147G= (p.Leu8049=)
c.22587G= (p.Leu7529=)
c.22080G= (p.Leu7360=)
c.17547G= (p.Leu5849=)
c.882G= (p.Leu294=)
c.24285G= (p.Leu8095=)
c.24234G= (p.Leu8078=)
6g.152151995C>GCA452748229SYNE1c.741G>C (p.Leu247=)
c.24276G>C (p.Leu8092=)
c.24063G>C (p.Leu8021=)
c.11G>C
c.190G>C
c.48G>C (p.Leu16=)
c.23061G>C (p.Leu7687=)
n.955G>C
c.3042G>C (p.Leu1014=)
n.7968G>C
c.2214G>C (p.Leu738=)
n.7860G>C
n.821G>C
n.338G>C
n.1113G>C
c.24312G>C (p.Leu8104=)
c.24300G>C (p.Leu8100=)
c.24291G>C (p.Leu8097=)
c.24261G>C (p.Leu8087=)
c.24297G>C (p.Leu8099=)
c.24240G>C (p.Leu8080=)
c.24171G>C (p.Leu8057=)
c.24159G>C (p.Leu8053=)
c.24156G>C (p.Leu8052=)
c.24153G>C (p.Leu8051=)
c.24309G>C (p.Leu8103=)
c.24147G>C (p.Leu8049=)
c.22587G>C (p.Leu7529=)
c.22080G>C (p.Leu7360=)
c.17547G>C (p.Leu5849=)
c.882G>C (p.Leu294=)
c.24285G>C (p.Leu8095=)
c.24234G>C (p.Leu8078=)
6g.152151995C>TCA452748230SYNE1c.741G>A (p.Leu247=)
c.24276G>A (p.Leu8092=)
c.24063G>A (p.Leu8021=)
c.11G>A
c.190G>A
c.48G>A (p.Leu16=)
c.23061G>A (p.Leu7687=)
n.955G>A
c.3042G>A (p.Leu1014=)
n.7968G>A
c.2214G>A (p.Leu738=)
n.7860G>A
n.821G>A
n.338G>A
n.1113G>A
c.24312G>A (p.Leu8104=)
c.24300G>A (p.Leu8100=)
c.24291G>A (p.Leu8097=)
c.24261G>A (p.Leu8087=)
c.24297G>A (p.Leu8099=)
c.24240G>A (p.Leu8080=)
c.24171G>A (p.Leu8057=)
c.24159G>A (p.Leu8053=)
c.24156G>A (p.Leu8052=)
c.24153G>A (p.Leu8051=)
c.24309G>A (p.Leu8103=)
c.24147G>A (p.Leu8049=)
c.22587G>A (p.Leu7529=)
c.22080G>A (p.Leu7360=)
c.17547G>A (p.Leu5849=)
c.882G>A (p.Leu294=)
c.24285G>A (p.Leu8095=)
c.24234G>A (p.Leu8078=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152151996A>CCA366086895SYNE1c.740T>G (p.Leu247Arg)
c.24275T>G (p.Leu8092Arg)
c.24062T>G (p.Leu8021Arg)
c.10T>G
c.189T>G
c.47T>G (p.Leu16Arg)
c.23060T>G (p.Leu7687Arg)
n.954T>G
c.3041T>G (p.Leu1014Arg)
n.7967T>G
c.2213T>G (p.Leu738Arg)
n.7859T>G
n.820T>G
n.337T>G
n.1112T>G
c.24311T>G (p.Leu8104Arg)
c.24299T>G (p.Leu8100Arg)
c.24290T>G (p.Leu8097Arg)
c.24260T>G (p.Leu8087Arg)
c.24296T>G (p.Leu8099Arg)
c.24239T>G (p.Leu8080Arg)
c.24170T>G (p.Leu8057Arg)
c.24158T>G (p.Leu8053Arg)
c.24155T>G (p.Leu8052Arg)
c.24152T>G (p.Leu8051Arg)
c.24308T>G (p.Leu8103Arg)
c.24146T>G (p.Leu8049Arg)
c.22586T>G (p.Leu7529Arg)
c.22079T>G (p.Leu7360Arg)
c.17546T>G (p.Leu5849Arg)
c.881T>G (p.Leu294Arg)
c.24284T>G (p.Leu8095Arg)
c.24233T>G (p.Leu8078Arg)
6g.152151996A>GCA366086896SYNE1c.740T>C (p.Leu247Pro)
c.24275T>C (p.Leu8092Pro)
c.24062T>C (p.Leu8021Pro)
c.10T>C
c.189T>C
c.47T>C (p.Leu16Pro)
c.23060T>C (p.Leu7687Pro)
n.954T>C
c.3041T>C (p.Leu1014Pro)
n.7967T>C
c.2213T>C (p.Leu738Pro)
n.7859T>C
n.820T>C
n.337T>C
n.1112T>C
c.24311T>C (p.Leu8104Pro)
c.24299T>C (p.Leu8100Pro)
c.24290T>C (p.Leu8097Pro)
c.24260T>C (p.Leu8087Pro)
c.24296T>C (p.Leu8099Pro)
c.24239T>C (p.Leu8080Pro)
c.24170T>C (p.Leu8057Pro)
c.24158T>C (p.Leu8053Pro)
c.24155T>C (p.Leu8052Pro)
c.24152T>C (p.Leu8051Pro)
c.24308T>C (p.Leu8103Pro)
c.24146T>C (p.Leu8049Pro)
c.22586T>C (p.Leu7529Pro)
c.22079T>C (p.Leu7360Pro)
c.17546T>C (p.Leu5849Pro)
c.881T>C (p.Leu294Pro)
c.24284T>C (p.Leu8095Pro)
c.24233T>C (p.Leu8078Pro)
6g.152151996A>TCA366086897SYNE1c.740T>A (p.Leu247Gln)
c.24275T>A (p.Leu8092Gln)
c.24062T>A (p.Leu8021Gln)
c.10T>A
c.189T>A
c.47T>A (p.Leu16Gln)
c.23060T>A (p.Leu7687Gln)
n.954T>A
c.3041T>A (p.Leu1014Gln)
n.7967T>A
c.2213T>A (p.Leu738Gln)
n.7859T>A
n.820T>A
n.337T>A
n.1112T>A
c.24311T>A (p.Leu8104Gln)
c.24299T>A (p.Leu8100Gln)
c.24290T>A (p.Leu8097Gln)
c.24260T>A (p.Leu8087Gln)
c.24296T>A (p.Leu8099Gln)
c.24239T>A (p.Leu8080Gln)
c.24170T>A (p.Leu8057Gln)
c.24158T>A (p.Leu8053Gln)
c.24155T>A (p.Leu8052Gln)
c.24152T>A (p.Leu8051Gln)
c.24308T>A (p.Leu8103Gln)
c.24146T>A (p.Leu8049Gln)
c.22586T>A (p.Leu7529Gln)
c.22079T>A (p.Leu7360Gln)
c.17546T>A (p.Leu5849Gln)
c.881T>A (p.Leu294Gln)
c.24284T>A (p.Leu8095Gln)
c.24233T>A (p.Leu8078Gln)
6g.152151997G>ACA452748232SYNE1c.739C>T (p.Leu247=)
c.24274C>T (p.Leu8092=)
c.24061C>T (p.Leu8021=)
c.9C>T
c.188C>T
c.46C>T (p.Leu16=)
c.23059C>T (p.Leu7687=)
n.953C>T
c.3040C>T (p.Leu1014=)
n.7966C>T
c.2212C>T (p.Leu738=)
n.7858C>T
n.819C>T
n.336C>T
n.1111C>T
c.24310C>T (p.Leu8104=)
c.24298C>T (p.Leu8100=)
c.24289C>T (p.Leu8097=)
c.24259C>T (p.Leu8087=)
c.24295C>T (p.Leu8099=)
c.24238C>T (p.Leu8080=)
c.24169C>T (p.Leu8057=)
c.24157C>T (p.Leu8053=)
c.24154C>T (p.Leu8052=)
c.24151C>T (p.Leu8051=)
c.24307C>T (p.Leu8103=)
c.24145C>T (p.Leu8049=)
c.22585C>T (p.Leu7529=)
c.22078C>T (p.Leu7360=)
c.17545C>T (p.Leu5849=)
c.880C>T (p.Leu294=)
c.24283C>T (p.Leu8095=)
c.24232C>T (p.Leu8078=)
 ClinVar dbSNP
6g.152151997G>CCA366086898SYNE1c.739C>G (p.Leu247Val)
c.24274C>G (p.Leu8092Val)
c.24061C>G (p.Leu8021Val)
c.9C>G
c.188C>G
c.46C>G (p.Leu16Val)
c.23059C>G (p.Leu7687Val)
n.953C>G
c.3040C>G (p.Leu1014Val)
n.7966C>G
c.2212C>G (p.Leu738Val)
n.7858C>G
n.819C>G
n.336C>G
n.1111C>G
c.24310C>G (p.Leu8104Val)
c.24298C>G (p.Leu8100Val)
c.24289C>G (p.Leu8097Val)
c.24259C>G (p.Leu8087Val)
c.24295C>G (p.Leu8099Val)
c.24238C>G (p.Leu8080Val)
c.24169C>G (p.Leu8057Val)
c.24157C>G (p.Leu8053Val)
c.24154C>G (p.Leu8052Val)
c.24151C>G (p.Leu8051Val)
c.24307C>G (p.Leu8103Val)
c.24145C>G (p.Leu8049Val)
c.22585C>G (p.Leu7529Val)
c.22078C>G (p.Leu7360Val)
c.17545C>G (p.Leu5849Val)
c.880C>G (p.Leu294Val)
c.24283C>G (p.Leu8095Val)
c.24232C>G (p.Leu8078Val)
6g.152151997G>TCA366086899SYNE1c.739C>A (p.Leu247Met)
c.24274C>A (p.Leu8092Met)
c.24061C>A (p.Leu8021Met)
c.9C>A
c.188C>A
c.46C>A (p.Leu16Met)
c.23059C>A (p.Leu7687Met)
n.953C>A
c.3040C>A (p.Leu1014Met)
n.7966C>A
c.2212C>A (p.Leu738Met)
n.7858C>A
n.819C>A
n.336C>A
n.1111C>A
c.24310C>A (p.Leu8104Met)
c.24298C>A (p.Leu8100Met)
c.24289C>A (p.Leu8097Met)
c.24259C>A (p.Leu8087Met)
c.24295C>A (p.Leu8099Met)
c.24238C>A (p.Leu8080Met)
c.24169C>A (p.Leu8057Met)
c.24157C>A (p.Leu8053Met)
c.24154C>A (p.Leu8052Met)
c.24151C>A (p.Leu8051Met)
c.24307C>A (p.Leu8103Met)
c.24145C>A (p.Leu8049Met)
c.22585C>A (p.Leu7529Met)
c.22078C>A (p.Leu7360Met)
c.17545C>A (p.Leu5849Met)
c.880C>A (p.Leu294Met)
c.24283C>A (p.Leu8095Met)
c.24232C>A (p.Leu8078Met)
6g.152151998G>ACA4053229SYNE1c.738C>T (p.Asn246=)
c.24273C>T (p.Asn8091=)
c.24060C>T (p.Asn8020=)
c.8C>T
c.187C>T
c.45C>T (p.Asn15=)
c.23058C>T (p.Asn7686=)
n.952C>T
c.3039C>T (p.Asn1013=)
n.7965C>T
c.2211C>T (p.Asn737=)
n.7857C>T
n.818C>T
n.335C>T
n.1110C>T
c.24309C>T (p.Asn8103=)
c.24297C>T (p.Asn8099=)
c.24288C>T (p.Asn8096=)
c.24258C>T (p.Asn8086=)
c.24294C>T (p.Asn8098=)
c.24237C>T (p.Asn8079=)
c.24168C>T (p.Asn8056=)
c.24156C>T (p.Asn8052=)
c.24153C>T (p.Asn8051=)
c.24150C>T (p.Asn8050=)
c.24306C>T (p.Asn8102=)
c.24144C>T (p.Asn8048=)
c.22584C>T (p.Asn7528=)
c.22077C>T (p.Asn7359=)
c.17544C>T (p.Asn5848=)
c.879C>T (p.Asn293=)
c.24282C>T (p.Asn8094=)
c.24231C>T (p.Asn8077=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151998G>CCA366086900SYNE1c.738C>G (p.Asn246Lys)
c.24273C>G (p.Asn8091Lys)
c.24060C>G (p.Asn8020Lys)
c.8C>G
c.187C>G
c.45C>G (p.Asn15Lys)
c.23058C>G (p.Asn7686Lys)
n.952C>G
c.3039C>G (p.Asn1013Lys)
n.7965C>G
c.2211C>G (p.Asn737Lys)
n.7857C>G
n.818C>G
n.335C>G
n.1110C>G
c.24309C>G (p.Asn8103Lys)
c.24297C>G (p.Asn8099Lys)
c.24288C>G (p.Asn8096Lys)
c.24258C>G (p.Asn8086Lys)
c.24294C>G (p.Asn8098Lys)
c.24237C>G (p.Asn8079Lys)
c.24168C>G (p.Asn8056Lys)
c.24156C>G (p.Asn8052Lys)
c.24153C>G (p.Asn8051Lys)
c.24150C>G (p.Asn8050Lys)
c.24306C>G (p.Asn8102Lys)
c.24144C>G (p.Asn8048Lys)
c.22584C>G (p.Asn7528Lys)
c.22077C>G (p.Asn7359Lys)
c.17544C>G (p.Asn5848Lys)
c.879C>G (p.Asn293Lys)
c.24282C>G (p.Asn8094Lys)
c.24231C>G (p.Asn8077Lys)
6g.152151998G=CA1673186827SYNE1c.738C= (p.Asn246=)
c.24273C= (p.Asn8091=)
c.24060C= (p.Asn8020=)
c.8C=
c.187C=
c.45C= (p.Asn15=)
c.23058C= (p.Asn7686=)
n.952C=
c.3039C= (p.Asn1013=)
n.7965C=
c.2211C= (p.Asn737=)
n.7857C=
n.818C=
n.335C=
n.1110C=
c.24309C= (p.Asn8103=)
c.24297C= (p.Asn8099=)
c.24288C= (p.Asn8096=)
c.24258C= (p.Asn8086=)
c.24294C= (p.Asn8098=)
c.24237C= (p.Asn8079=)
c.24168C= (p.Asn8056=)
c.24156C= (p.Asn8052=)
c.24153C= (p.Asn8051=)
c.24150C= (p.Asn8050=)
c.24306C= (p.Asn8102=)
c.24144C= (p.Asn8048=)
c.22584C= (p.Asn7528=)
c.22077C= (p.Asn7359=)
c.17544C= (p.Asn5848=)
c.879C= (p.Asn293=)
c.24282C= (p.Asn8094=)
c.24231C= (p.Asn8077=)
6g.152151998G>TCA4053230SYNE1c.738C>A (p.Asn246Lys)
c.24273C>A (p.Asn8091Lys)
c.24060C>A (p.Asn8020Lys)
c.8C>A
c.187C>A
c.45C>A (p.Asn15Lys)
c.23058C>A (p.Asn7686Lys)
n.952C>A
c.3039C>A (p.Asn1013Lys)
n.7965C>A
c.2211C>A (p.Asn737Lys)
n.7857C>A
n.818C>A
n.335C>A
n.1110C>A
c.24309C>A (p.Asn8103Lys)
c.24297C>A (p.Asn8099Lys)
c.24288C>A (p.Asn8096Lys)
c.24258C>A (p.Asn8086Lys)
c.24294C>A (p.Asn8098Lys)
c.24237C>A (p.Asn8079Lys)
c.24168C>A (p.Asn8056Lys)
c.24156C>A (p.Asn8052Lys)
c.24153C>A (p.Asn8051Lys)
c.24150C>A (p.Asn8050Lys)
c.24306C>A (p.Asn8102Lys)
c.24144C>A (p.Asn8048Lys)
c.22584C>A (p.Asn7528Lys)
c.22077C>A (p.Asn7359Lys)
c.17544C>A (p.Asn5848Lys)
c.879C>A (p.Asn293Lys)
c.24282C>A (p.Asn8094Lys)
c.24231C>A (p.Asn8077Lys)
 dbSNP ExAC gnomAD v2
6g.152151999T>ACA4053231SYNE1c.737A>T (p.Asn246Ile)
c.24272A>T (p.Asn8091Ile)
c.24059A>T (p.Asn8020Ile)
c.7A>T
c.186A>T
c.44A>T (p.Asn15Ile)
c.23057A>T (p.Asn7686Ile)
n.951A>T
c.3038A>T (p.Asn1013Ile)
n.7964A>T
c.2210A>T (p.Asn737Ile)
n.7856A>T
n.817A>T
n.334A>T
n.1109A>T
c.24308A>T (p.Asn8103Ile)
c.24296A>T (p.Asn8099Ile)
c.24287A>T (p.Asn8096Ile)
c.24257A>T (p.Asn8086Ile)
c.24293A>T (p.Asn8098Ile)
c.24236A>T (p.Asn8079Ile)
c.24167A>T (p.Asn8056Ile)
c.24155A>T (p.Asn8052Ile)
c.24152A>T (p.Asn8051Ile)
c.24149A>T (p.Asn8050Ile)
c.24305A>T (p.Asn8102Ile)
c.24143A>T (p.Asn8048Ile)
c.22583A>T (p.Asn7528Ile)
c.22076A>T (p.Asn7359Ile)
c.17543A>T (p.Asn5848Ile)
c.878A>T (p.Asn293Ile)
c.24281A>T (p.Asn8094Ile)
c.24230A>T (p.Asn8077Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151999T>CCA366086902SYNE1c.737A>G (p.Asn246Ser)
c.24272A>G (p.Asn8091Ser)
c.24059A>G (p.Asn8020Ser)
c.7A>G
c.186A>G
c.44A>G (p.Asn15Ser)
c.23057A>G (p.Asn7686Ser)
n.951A>G
c.3038A>G (p.Asn1013Ser)
n.7964A>G
c.2210A>G (p.Asn737Ser)
n.7856A>G
n.817A>G
n.334A>G
n.1109A>G
c.24308A>G (p.Asn8103Ser)
c.24296A>G (p.Asn8099Ser)
c.24287A>G (p.Asn8096Ser)
c.24257A>G (p.Asn8086Ser)
c.24293A>G (p.Asn8098Ser)
c.24236A>G (p.Asn8079Ser)
c.24167A>G (p.Asn8056Ser)
c.24155A>G (p.Asn8052Ser)
c.24152A>G (p.Asn8051Ser)
c.24149A>G (p.Asn8050Ser)
c.24305A>G (p.Asn8102Ser)
c.24143A>G (p.Asn8048Ser)
c.22583A>G (p.Asn7528Ser)
c.22076A>G (p.Asn7359Ser)
c.17543A>G (p.Asn5848Ser)
c.878A>G (p.Asn293Ser)
c.24281A>G (p.Asn8094Ser)
c.24230A>G (p.Asn8077Ser)
6g.152151999T>GCA366086901SYNE1c.737A>C (p.Asn246Thr)
c.24272A>C (p.Asn8091Thr)
c.24059A>C (p.Asn8020Thr)
c.7A>C
c.186A>C
c.44A>C (p.Asn15Thr)
c.23057A>C (p.Asn7686Thr)
n.951A>C
c.3038A>C (p.Asn1013Thr)
n.7964A>C
c.2210A>C (p.Asn737Thr)
n.7856A>C
n.817A>C
n.334A>C
n.1109A>C
c.24308A>C (p.Asn8103Thr)
c.24296A>C (p.Asn8099Thr)
c.24287A>C (p.Asn8096Thr)
c.24257A>C (p.Asn8086Thr)
c.24293A>C (p.Asn8098Thr)
c.24236A>C (p.Asn8079Thr)
c.24167A>C (p.Asn8056Thr)
c.24155A>C (p.Asn8052Thr)
c.24152A>C (p.Asn8051Thr)
c.24149A>C (p.Asn8050Thr)
c.24305A>C (p.Asn8102Thr)
c.24143A>C (p.Asn8048Thr)
c.22583A>C (p.Asn7528Thr)
c.22076A>C (p.Asn7359Thr)
c.17543A>C (p.Asn5848Thr)
c.878A>C (p.Asn293Thr)
c.24281A>C (p.Asn8094Thr)
c.24230A>C (p.Asn8077Thr)
6g.152151999T=CA1673186830SYNE1c.737A= (p.Asn246=)
c.24272A= (p.Asn8091=)
c.24059A= (p.Asn8020=)
c.7A=
c.186A=
c.44A= (p.Asn15=)
c.23057A= (p.Asn7686=)
n.951A=
c.3038A= (p.Asn1013=)
n.7964A=
c.2210A= (p.Asn737=)
n.7856A=
n.817A=
n.334A=
n.1109A=
c.24308A= (p.Asn8103=)
c.24296A= (p.Asn8099=)
c.24287A= (p.Asn8096=)
c.24257A= (p.Asn8086=)
c.24293A= (p.Asn8098=)
c.24236A= (p.Asn8079=)
c.24167A= (p.Asn8056=)
c.24155A= (p.Asn8052=)
c.24152A= (p.Asn8051=)
c.24149A= (p.Asn8050=)
c.24305A= (p.Asn8102=)
c.24143A= (p.Asn8048=)
c.22583A= (p.Asn7528=)
c.22076A= (p.Asn7359=)
c.17543A= (p.Asn5848=)
c.878A= (p.Asn293=)
c.24281A= (p.Asn8094=)
c.24230A= (p.Asn8077=)
6g.152152000T>ACA366086903SYNE1c.736A>T (p.Asn246Tyr)
c.24271A>T (p.Asn8091Tyr)
c.24058A>T (p.Asn8020Tyr)
c.6A>T
c.185A>T
c.43A>T (p.Asn15Tyr)
c.23056A>T (p.Asn7686Tyr)
n.950A>T
c.3037A>T (p.Asn1013Tyr)
n.7963A>T
c.2209A>T (p.Asn737Tyr)
n.7855A>T
n.816A>T
n.333A>T
n.1108A>T
c.24307A>T (p.Asn8103Tyr)
c.24295A>T (p.Asn8099Tyr)
c.24286A>T (p.Asn8096Tyr)
c.24256A>T (p.Asn8086Tyr)
c.24292A>T (p.Asn8098Tyr)
c.24235A>T (p.Asn8079Tyr)
c.24166A>T (p.Asn8056Tyr)
c.24154A>T (p.Asn8052Tyr)
c.24151A>T (p.Asn8051Tyr)
c.24148A>T (p.Asn8050Tyr)
c.24304A>T (p.Asn8102Tyr)
c.24142A>T (p.Asn8048Tyr)
c.22582A>T (p.Asn7528Tyr)
c.22075A>T (p.Asn7359Tyr)
c.17542A>T (p.Asn5848Tyr)
c.877A>T (p.Asn293Tyr)
c.24280A>T (p.Asn8094Tyr)
c.24229A>T (p.Asn8077Tyr)
6g.152152000T>CCA366086904SYNE1c.736A>G (p.Asn246Asp)
c.24271A>G (p.Asn8091Asp)
c.24058A>G (p.Asn8020Asp)
c.6A>G
c.185A>G
c.43A>G (p.Asn15Asp)
c.23056A>G (p.Asn7686Asp)
n.950A>G
c.3037A>G (p.Asn1013Asp)
n.7963A>G
c.2209A>G (p.Asn737Asp)
n.7855A>G
n.816A>G
n.333A>G
n.1108A>G
c.24307A>G (p.Asn8103Asp)
c.24295A>G (p.Asn8099Asp)
c.24286A>G (p.Asn8096Asp)
c.24256A>G (p.Asn8086Asp)
c.24292A>G (p.Asn8098Asp)
c.24235A>G (p.Asn8079Asp)
c.24166A>G (p.Asn8056Asp)
c.24154A>G (p.Asn8052Asp)
c.24151A>G (p.Asn8051Asp)
c.24148A>G (p.Asn8050Asp)
c.24304A>G (p.Asn8102Asp)
c.24142A>G (p.Asn8048Asp)
c.22582A>G (p.Asn7528Asp)
c.22075A>G (p.Asn7359Asp)
c.17542A>G (p.Asn5848Asp)
c.877A>G (p.Asn293Asp)
c.24280A>G (p.Asn8094Asp)
c.24229A>G (p.Asn8077Asp)
 dbSNP gnomAD v4
6g.152152000T>GCA366086905SYNE1c.736A>C (p.Asn246His)
c.24271A>C (p.Asn8091His)
c.24058A>C (p.Asn8020His)
c.6A>C
c.185A>C
c.43A>C (p.Asn15His)
c.23056A>C (p.Asn7686His)
n.950A>C
c.3037A>C (p.Asn1013His)
n.7963A>C
c.2209A>C (p.Asn737His)
n.7855A>C
n.816A>C
n.333A>C
n.1108A>C
c.24307A>C (p.Asn8103His)
c.24295A>C (p.Asn8099His)
c.24286A>C (p.Asn8096His)
c.24256A>C (p.Asn8086His)
c.24292A>C (p.Asn8098His)
c.24235A>C (p.Asn8079His)
c.24166A>C (p.Asn8056His)
c.24154A>C (p.Asn8052His)
c.24151A>C (p.Asn8051His)
c.24148A>C (p.Asn8050His)
c.24304A>C (p.Asn8102His)
c.24142A>C (p.Asn8048His)
c.22582A>C (p.Asn7528His)
c.22075A>C (p.Asn7359His)
c.17542A>C (p.Asn5848His)
c.877A>C (p.Asn293His)
c.24280A>C (p.Asn8094His)
c.24229A>C (p.Asn8077His)
6g.152152000T=CA1673186834SYNE1c.736A= (p.Asn246=)
c.24271A= (p.Asn8091=)
c.24058A= (p.Asn8020=)
c.6A=
c.185A=
c.43A= (p.Asn15=)
c.23056A= (p.Asn7686=)
n.950A=
c.3037A= (p.Asn1013=)
n.7963A=
c.2209A= (p.Asn737=)
n.7855A=
n.816A=
n.333A=
n.1108A=
c.24307A= (p.Asn8103=)
c.24295A= (p.Asn8099=)
c.24286A= (p.Asn8096=)
c.24256A= (p.Asn8086=)
c.24292A= (p.Asn8098=)
c.24235A= (p.Asn8079=)
c.24166A= (p.Asn8056=)
c.24154A= (p.Asn8052=)
c.24151A= (p.Asn8051=)
c.24148A= (p.Asn8050=)
c.24304A= (p.Asn8102=)
c.24142A= (p.Asn8048=)
c.22582A= (p.Asn7528=)
c.22075A= (p.Asn7359=)
c.17542A= (p.Asn5848=)
c.877A= (p.Asn293=)
c.24280A= (p.Asn8094=)
c.24229A= (p.Asn8077=)

Number of alleles fetched