Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152140098T>ACA366080659SYNE1c.1844A>T (p.Gln615Leu)
c.25310A>T (p.Gln8437Leu)
c.25166A>T (p.Gln8389Leu)
c.712A>T
c.1045A>T
c.954A>T
c.1082A>T (p.Gln361Leu)
c.24095A>T (p.Gln8032Leu)
n.2058A>T
c.4145A>T (p.Gln1382Leu)
n.9002A>T
c.3248A>T (p.Gln1083Leu)
n.8894A>T
n.1924A>T
n.4332A>T
n.2147A>T
c.1775A>T (p.Gln592Leu)
c.25415A>T (p.Gln8472Leu)
c.25403A>T (p.Gln8468Leu)
c.25394A>T (p.Gln8465Leu)
c.25364A>T (p.Gln8455Leu)
c.25400A>T (p.Gln8467Leu)
c.25346A>T (p.Gln8449Leu)
c.25343A>T (p.Gln8448Leu)
c.25331A>T (p.Gln8444Leu)
c.25274A>T (p.Gln8425Leu)
c.25262A>T (p.Gln8421Leu)
c.25259A>T (p.Gln8420Leu)
c.25256A>T (p.Gln8419Leu)
c.25412A>T (p.Gln8471Leu)
c.25250A>T (p.Gln8417Leu)
c.23690A>T (p.Gln7897Leu)
c.23183A>T (p.Gln7728Leu)
c.18650A>T (p.Gln6217Leu)
c.1916A>T (p.Gln639Leu)
c.25388A>T (p.Gln8463Leu)
c.25337A>T (p.Gln8446Leu)
c.25190A>T (p.Gln8397Leu)
6g.152140098T>CCA366080661SYNE1c.1844A>G (p.Gln615Arg)
c.25310A>G (p.Gln8437Arg)
c.25166A>G (p.Gln8389Arg)
c.712A>G
c.1045A>G
c.954A>G
c.1082A>G (p.Gln361Arg)
c.24095A>G (p.Gln8032Arg)
n.2058A>G
c.4145A>G (p.Gln1382Arg)
n.9002A>G
c.3248A>G (p.Gln1083Arg)
n.8894A>G
n.1924A>G
n.4332A>G
n.2147A>G
c.1775A>G (p.Gln592Arg)
c.25415A>G (p.Gln8472Arg)
c.25403A>G (p.Gln8468Arg)
c.25394A>G (p.Gln8465Arg)
c.25364A>G (p.Gln8455Arg)
c.25400A>G (p.Gln8467Arg)
c.25346A>G (p.Gln8449Arg)
c.25343A>G (p.Gln8448Arg)
c.25331A>G (p.Gln8444Arg)
c.25274A>G (p.Gln8425Arg)
c.25262A>G (p.Gln8421Arg)
c.25259A>G (p.Gln8420Arg)
c.25256A>G (p.Gln8419Arg)
c.25412A>G (p.Gln8471Arg)
c.25250A>G (p.Gln8417Arg)
c.23690A>G (p.Gln7897Arg)
c.23183A>G (p.Gln7728Arg)
c.18650A>G (p.Gln6217Arg)
c.1916A>G (p.Gln639Arg)
c.25388A>G (p.Gln8463Arg)
c.25337A>G (p.Gln8446Arg)
c.25190A>G (p.Gln8397Arg)
6g.152140098T>GCA366080663SYNE1c.1844A>C (p.Gln615Pro)
c.25310A>C (p.Gln8437Pro)
c.25166A>C (p.Gln8389Pro)
c.712A>C
c.1045A>C
c.954A>C
c.1082A>C (p.Gln361Pro)
c.24095A>C (p.Gln8032Pro)
n.2058A>C
c.4145A>C (p.Gln1382Pro)
n.9002A>C
c.3248A>C (p.Gln1083Pro)
n.8894A>C
n.1924A>C
n.4332A>C
n.2147A>C
c.1775A>C (p.Gln592Pro)
c.25415A>C (p.Gln8472Pro)
c.25403A>C (p.Gln8468Pro)
c.25394A>C (p.Gln8465Pro)
c.25364A>C (p.Gln8455Pro)
c.25400A>C (p.Gln8467Pro)
c.25346A>C (p.Gln8449Pro)
c.25343A>C (p.Gln8448Pro)
c.25331A>C (p.Gln8444Pro)
c.25274A>C (p.Gln8425Pro)
c.25262A>C (p.Gln8421Pro)
c.25259A>C (p.Gln8420Pro)
c.25256A>C (p.Gln8419Pro)
c.25412A>C (p.Gln8471Pro)
c.25250A>C (p.Gln8417Pro)
c.23690A>C (p.Gln7897Pro)
c.23183A>C (p.Gln7728Pro)
c.18650A>C (p.Gln6217Pro)
c.1916A>C (p.Gln639Pro)
c.25388A>C (p.Gln8463Pro)
c.25337A>C (p.Gln8446Pro)
c.25190A>C (p.Gln8397Pro)
6g.152140099G>ACA366080673SYNE1c.1843C>T (p.Gln615Ter)
c.25309C>T (p.Gln8437Ter)
c.25165C>T (p.Gln8389Ter)
c.711C>T
c.1044C>T
c.953C>T
c.1081C>T (p.Gln361Ter)
c.24094C>T (p.Gln8032Ter)
n.2057C>T
c.4144C>T (p.Gln1382Ter)
n.9001C>T
c.3247C>T (p.Gln1083Ter)
n.8893C>T
n.1923C>T
n.4331C>T
n.2146C>T
c.1774C>T (p.Gln592Ter)
c.25414C>T (p.Gln8472Ter)
c.25402C>T (p.Gln8468Ter)
c.25393C>T (p.Gln8465Ter)
c.25363C>T (p.Gln8455Ter)
c.25399C>T (p.Gln8467Ter)
c.25345C>T (p.Gln8449Ter)
c.25342C>T (p.Gln8448Ter)
c.25330C>T (p.Gln8444Ter)
c.25273C>T (p.Gln8425Ter)
c.25261C>T (p.Gln8421Ter)
c.25258C>T (p.Gln8420Ter)
c.25255C>T (p.Gln8419Ter)
c.25411C>T (p.Gln8471Ter)
c.25249C>T (p.Gln8417Ter)
c.23689C>T (p.Gln7897Ter)
c.23182C>T (p.Gln7728Ter)
c.18649C>T (p.Gln6217Ter)
c.1915C>T (p.Gln639Ter)
c.25387C>T (p.Gln8463Ter)
c.25336C>T (p.Gln8446Ter)
c.25189C>T (p.Gln8397Ter)
6g.152140099G>CCA366080674SYNE1c.1843C>G (p.Gln615Glu)
c.25309C>G (p.Gln8437Glu)
c.25165C>G (p.Gln8389Glu)
c.711C>G
c.1044C>G
c.953C>G
c.1081C>G (p.Gln361Glu)
c.24094C>G (p.Gln8032Glu)
n.2057C>G
c.4144C>G (p.Gln1382Glu)
n.9001C>G
c.3247C>G (p.Gln1083Glu)
n.8893C>G
n.1923C>G
n.4331C>G
n.2146C>G
c.1774C>G (p.Gln592Glu)
c.25414C>G (p.Gln8472Glu)
c.25402C>G (p.Gln8468Glu)
c.25393C>G (p.Gln8465Glu)
c.25363C>G (p.Gln8455Glu)
c.25399C>G (p.Gln8467Glu)
c.25345C>G (p.Gln8449Glu)
c.25342C>G (p.Gln8448Glu)
c.25330C>G (p.Gln8444Glu)
c.25273C>G (p.Gln8425Glu)
c.25261C>G (p.Gln8421Glu)
c.25258C>G (p.Gln8420Glu)
c.25255C>G (p.Gln8419Glu)
c.25411C>G (p.Gln8471Glu)
c.25249C>G (p.Gln8417Glu)
c.23689C>G (p.Gln7897Glu)
c.23182C>G (p.Gln7728Glu)
c.18649C>G (p.Gln6217Glu)
c.1915C>G (p.Gln639Glu)
c.25387C>G (p.Gln8463Glu)
c.25336C>G (p.Gln8446Glu)
c.25189C>G (p.Gln8397Glu)
6g.152140099G>TCA366080677SYNE1c.1843C>A (p.Gln615Lys)
c.25309C>A (p.Gln8437Lys)
c.25165C>A (p.Gln8389Lys)
c.711C>A
c.1044C>A
c.953C>A
c.1081C>A (p.Gln361Lys)
c.24094C>A (p.Gln8032Lys)
n.2057C>A
c.4144C>A (p.Gln1382Lys)
n.9001C>A
c.3247C>A (p.Gln1083Lys)
n.8893C>A
n.1923C>A
n.4331C>A
n.2146C>A
c.1774C>A (p.Gln592Lys)
c.25414C>A (p.Gln8472Lys)
c.25402C>A (p.Gln8468Lys)
c.25393C>A (p.Gln8465Lys)
c.25363C>A (p.Gln8455Lys)
c.25399C>A (p.Gln8467Lys)
c.25345C>A (p.Gln8449Lys)
c.25342C>A (p.Gln8448Lys)
c.25330C>A (p.Gln8444Lys)
c.25273C>A (p.Gln8425Lys)
c.25261C>A (p.Gln8421Lys)
c.25258C>A (p.Gln8420Lys)
c.25255C>A (p.Gln8419Lys)
c.25411C>A (p.Gln8471Lys)
c.25249C>A (p.Gln8417Lys)
c.23689C>A (p.Gln7897Lys)
c.23182C>A (p.Gln7728Lys)
c.18649C>A (p.Gln6217Lys)
c.1915C>A (p.Gln639Lys)
c.25387C>A (p.Gln8463Lys)
c.25336C>A (p.Gln8446Lys)
c.25189C>A (p.Gln8397Lys)
6g.152140100C>ACA366080684SYNE1c.1842G>T (p.Lys614Asn)
c.25308G>T (p.Lys8436Asn)
c.25164G>T (p.Lys8388Asn)
c.710G>T
c.1043G>T
c.952G>T
c.1080G>T (p.Lys360Asn)
c.24093G>T (p.Lys8031Asn)
n.2056G>T
c.4143G>T (p.Lys1381Asn)
n.9000G>T
c.3246G>T (p.Lys1082Asn)
n.8892G>T
n.1922G>T
n.4330G>T
n.2145G>T
c.1773G>T (p.Lys591Asn)
c.25413G>T (p.Lys8471Asn)
c.25401G>T (p.Lys8467Asn)
c.25392G>T (p.Lys8464Asn)
c.25362G>T (p.Lys8454Asn)
c.25398G>T (p.Lys8466Asn)
c.25344G>T (p.Lys8448Asn)
c.25341G>T (p.Lys8447Asn)
c.25329G>T (p.Lys8443Asn)
c.25272G>T (p.Lys8424Asn)
c.25260G>T (p.Lys8420Asn)
c.25257G>T (p.Lys8419Asn)
c.25254G>T (p.Lys8418Asn)
c.25410G>T (p.Lys8470Asn)
c.25248G>T (p.Lys8416Asn)
c.23688G>T (p.Lys7896Asn)
c.23181G>T (p.Lys7727Asn)
c.18648G>T (p.Lys6216Asn)
c.1914G>T (p.Lys638Asn)
c.25386G>T (p.Lys8462Asn)
c.25335G>T (p.Lys8445Asn)
c.25188G>T (p.Lys8396Asn)
6g.152140100C=CA1673206360SYNE1c.1842G= (p.Lys614=)
c.25308G= (p.Lys8436=)
c.25164G= (p.Lys8388=)
c.710G=
c.1043G=
c.952G=
c.1080G= (p.Lys360=)
c.24093G= (p.Lys8031=)
n.2056G=
c.4143G= (p.Lys1381=)
n.9000G=
c.3246G= (p.Lys1082=)
n.8892G=
n.1922G=
n.4330G=
n.2145G=
c.1773G= (p.Lys591=)
c.25413G= (p.Lys8471=)
c.25401G= (p.Lys8467=)
c.25392G= (p.Lys8464=)
c.25362G= (p.Lys8454=)
c.25398G= (p.Lys8466=)
c.25344G= (p.Lys8448=)
c.25341G= (p.Lys8447=)
c.25329G= (p.Lys8443=)
c.25272G= (p.Lys8424=)
c.25260G= (p.Lys8420=)
c.25257G= (p.Lys8419=)
c.25254G= (p.Lys8418=)
c.25410G= (p.Lys8470=)
c.25248G= (p.Lys8416=)
c.23688G= (p.Lys7896=)
c.23181G= (p.Lys7727=)
c.18648G= (p.Lys6216=)
c.1914G= (p.Lys638=)
c.25386G= (p.Lys8462=)
c.25335G= (p.Lys8445=)
c.25188G= (p.Lys8396=)
6g.152140100C>GCA366080680SYNE1c.1842G>C (p.Lys614Asn)
c.25308G>C (p.Lys8436Asn)
c.25164G>C (p.Lys8388Asn)
c.710G>C
c.1043G>C
c.952G>C
c.1080G>C (p.Lys360Asn)
c.24093G>C (p.Lys8031Asn)
n.2056G>C
c.4143G>C (p.Lys1381Asn)
n.9000G>C
c.3246G>C (p.Lys1082Asn)
n.8892G>C
n.1922G>C
n.4330G>C
n.2145G>C
c.1773G>C (p.Lys591Asn)
c.25413G>C (p.Lys8471Asn)
c.25401G>C (p.Lys8467Asn)
c.25392G>C (p.Lys8464Asn)
c.25362G>C (p.Lys8454Asn)
c.25398G>C (p.Lys8466Asn)
c.25344G>C (p.Lys8448Asn)
c.25341G>C (p.Lys8447Asn)
c.25329G>C (p.Lys8443Asn)
c.25272G>C (p.Lys8424Asn)
c.25260G>C (p.Lys8420Asn)
c.25257G>C (p.Lys8419Asn)
c.25254G>C (p.Lys8418Asn)
c.25410G>C (p.Lys8470Asn)
c.25248G>C (p.Lys8416Asn)
c.23688G>C (p.Lys7896Asn)
c.23181G>C (p.Lys7727Asn)
c.18648G>C (p.Lys6216Asn)
c.1914G>C (p.Lys638Asn)
c.25386G>C (p.Lys8462Asn)
c.25335G>C (p.Lys8445Asn)
c.25188G>C (p.Lys8396Asn)
6g.152140100C>TCA452969940SYNE1c.1842G>A (p.Lys614=)
c.25308G>A (p.Lys8436=)
c.25164G>A (p.Lys8388=)
c.710G>A
c.1043G>A
c.952G>A
c.1080G>A (p.Lys360=)
c.24093G>A (p.Lys8031=)
n.2056G>A
c.4143G>A (p.Lys1381=)
n.9000G>A
c.3246G>A (p.Lys1082=)
n.8892G>A
n.1922G>A
n.4330G>A
n.2145G>A
c.1773G>A (p.Lys591=)
c.25413G>A (p.Lys8471=)
c.25401G>A (p.Lys8467=)
c.25392G>A (p.Lys8464=)
c.25362G>A (p.Lys8454=)
c.25398G>A (p.Lys8466=)
c.25344G>A (p.Lys8448=)
c.25341G>A (p.Lys8447=)
c.25329G>A (p.Lys8443=)
c.25272G>A (p.Lys8424=)
c.25260G>A (p.Lys8420=)
c.25257G>A (p.Lys8419=)
c.25254G>A (p.Lys8418=)
c.25410G>A (p.Lys8470=)
c.25248G>A (p.Lys8416=)
c.23688G>A (p.Lys7896=)
c.23181G>A (p.Lys7727=)
c.18648G>A (p.Lys6216=)
c.1914G>A (p.Lys638=)
c.25386G>A (p.Lys8462=)
c.25335G>A (p.Lys8445=)
c.25188G>A (p.Lys8396=)
 dbSNP gnomAD v3 gnomAD v4
6g.152140101T>ACA366080686SYNE1c.1841A>T (p.Lys614Met)
c.25307A>T (p.Lys8436Met)
c.25163A>T (p.Lys8388Met)
c.709A>T
c.1042A>T
c.951A>T
c.1079A>T (p.Lys360Met)
c.24092A>T (p.Lys8031Met)
n.2055A>T
c.4142A>T (p.Lys1381Met)
n.8999A>T
c.3245A>T (p.Lys1082Met)
n.8891A>T
n.1921A>T
n.4329A>T
n.2144A>T
c.1772A>T (p.Lys591Met)
c.25412A>T (p.Lys8471Met)
c.25400A>T (p.Lys8467Met)
c.25391A>T (p.Lys8464Met)
c.25361A>T (p.Lys8454Met)
c.25397A>T (p.Lys8466Met)
c.25343A>T (p.Lys8448Met)
c.25340A>T (p.Lys8447Met)
c.25328A>T (p.Lys8443Met)
c.25271A>T (p.Lys8424Met)
c.25259A>T (p.Lys8420Met)
c.25256A>T (p.Lys8419Met)
c.25253A>T (p.Lys8418Met)
c.25409A>T (p.Lys8470Met)
c.25247A>T (p.Lys8416Met)
c.23687A>T (p.Lys7896Met)
c.23180A>T (p.Lys7727Met)
c.18647A>T (p.Lys6216Met)
c.1913A>T (p.Lys638Met)
c.25385A>T (p.Lys8462Met)
c.25334A>T (p.Lys8445Met)
c.25187A>T (p.Lys8396Met)
6g.152140101T>CCA366080689SYNE1c.1841A>G (p.Lys614Arg)
c.25307A>G (p.Lys8436Arg)
c.25163A>G (p.Lys8388Arg)
c.709A>G
c.1042A>G
c.951A>G
c.1079A>G (p.Lys360Arg)
c.24092A>G (p.Lys8031Arg)
n.2055A>G
c.4142A>G (p.Lys1381Arg)
n.8999A>G
c.3245A>G (p.Lys1082Arg)
n.8891A>G
n.1921A>G
n.4329A>G
n.2144A>G
c.1772A>G (p.Lys591Arg)
c.25412A>G (p.Lys8471Arg)
c.25400A>G (p.Lys8467Arg)
c.25391A>G (p.Lys8464Arg)
c.25361A>G (p.Lys8454Arg)
c.25397A>G (p.Lys8466Arg)
c.25343A>G (p.Lys8448Arg)
c.25340A>G (p.Lys8447Arg)
c.25328A>G (p.Lys8443Arg)
c.25271A>G (p.Lys8424Arg)
c.25259A>G (p.Lys8420Arg)
c.25256A>G (p.Lys8419Arg)
c.25253A>G (p.Lys8418Arg)
c.25409A>G (p.Lys8470Arg)
c.25247A>G (p.Lys8416Arg)
c.23687A>G (p.Lys7896Arg)
c.23180A>G (p.Lys7727Arg)
c.18647A>G (p.Lys6216Arg)
c.1913A>G (p.Lys638Arg)
c.25385A>G (p.Lys8462Arg)
c.25334A>G (p.Lys8445Arg)
c.25187A>G (p.Lys8396Arg)
6g.152140101T>GCA366080691SYNE1c.1841A>C (p.Lys614Thr)
c.25307A>C (p.Lys8436Thr)
c.25163A>C (p.Lys8388Thr)
c.709A>C
c.1042A>C
c.951A>C
c.1079A>C (p.Lys360Thr)
c.24092A>C (p.Lys8031Thr)
n.2055A>C
c.4142A>C (p.Lys1381Thr)
n.8999A>C
c.3245A>C (p.Lys1082Thr)
n.8891A>C
n.1921A>C
n.4329A>C
n.2144A>C
c.1772A>C (p.Lys591Thr)
c.25412A>C (p.Lys8471Thr)
c.25400A>C (p.Lys8467Thr)
c.25391A>C (p.Lys8464Thr)
c.25361A>C (p.Lys8454Thr)
c.25397A>C (p.Lys8466Thr)
c.25343A>C (p.Lys8448Thr)
c.25340A>C (p.Lys8447Thr)
c.25328A>C (p.Lys8443Thr)
c.25271A>C (p.Lys8424Thr)
c.25259A>C (p.Lys8420Thr)
c.25256A>C (p.Lys8419Thr)
c.25253A>C (p.Lys8418Thr)
c.25409A>C (p.Lys8470Thr)
c.25247A>C (p.Lys8416Thr)
c.23687A>C (p.Lys7896Thr)
c.23180A>C (p.Lys7727Thr)
c.18647A>C (p.Lys6216Thr)
c.1913A>C (p.Lys638Thr)
c.25385A>C (p.Lys8462Thr)
c.25334A>C (p.Lys8445Thr)
c.25187A>C (p.Lys8396Thr)
6g.152140102T>ACA366080693SYNE1c.1840A>T (p.Lys614Ter)
c.25306A>T (p.Lys8436Ter)
c.25162A>T (p.Lys8388Ter)
c.708A>T
c.1041A>T
c.950A>T
c.1078A>T (p.Lys360Ter)
c.24091A>T (p.Lys8031Ter)
n.2054A>T
c.4141A>T (p.Lys1381Ter)
n.8998A>T
c.3244A>T (p.Lys1082Ter)
n.8890A>T
n.1920A>T
n.4328A>T
n.2143A>T
c.1771A>T (p.Lys591Ter)
c.25411A>T (p.Lys8471Ter)
c.25399A>T (p.Lys8467Ter)
c.25390A>T (p.Lys8464Ter)
c.25360A>T (p.Lys8454Ter)
c.25396A>T (p.Lys8466Ter)
c.25342A>T (p.Lys8448Ter)
c.25339A>T (p.Lys8447Ter)
c.25327A>T (p.Lys8443Ter)
c.25270A>T (p.Lys8424Ter)
c.25258A>T (p.Lys8420Ter)
c.25255A>T (p.Lys8419Ter)
c.25252A>T (p.Lys8418Ter)
c.25408A>T (p.Lys8470Ter)
c.25246A>T (p.Lys8416Ter)
c.23686A>T (p.Lys7896Ter)
c.23179A>T (p.Lys7727Ter)
c.18646A>T (p.Lys6216Ter)
c.1912A>T (p.Lys638Ter)
c.25384A>T (p.Lys8462Ter)
c.25333A>T (p.Lys8445Ter)
c.25186A>T (p.Lys8396Ter)
6g.152140102T>CCA366080696SYNE1c.1840A>G (p.Lys614Glu)
c.25306A>G (p.Lys8436Glu)
c.25162A>G (p.Lys8388Glu)
c.708A>G
c.1041A>G
c.950A>G
c.1078A>G (p.Lys360Glu)
c.24091A>G (p.Lys8031Glu)
n.2054A>G
c.4141A>G (p.Lys1381Glu)
n.8998A>G
c.3244A>G (p.Lys1082Glu)
n.8890A>G
n.1920A>G
n.4328A>G
n.2143A>G
c.1771A>G (p.Lys591Glu)
c.25411A>G (p.Lys8471Glu)
c.25399A>G (p.Lys8467Glu)
c.25390A>G (p.Lys8464Glu)
c.25360A>G (p.Lys8454Glu)
c.25396A>G (p.Lys8466Glu)
c.25342A>G (p.Lys8448Glu)
c.25339A>G (p.Lys8447Glu)
c.25327A>G (p.Lys8443Glu)
c.25270A>G (p.Lys8424Glu)
c.25258A>G (p.Lys8420Glu)
c.25255A>G (p.Lys8419Glu)
c.25252A>G (p.Lys8418Glu)
c.25408A>G (p.Lys8470Glu)
c.25246A>G (p.Lys8416Glu)
c.23686A>G (p.Lys7896Glu)
c.23179A>G (p.Lys7727Glu)
c.18646A>G (p.Lys6216Glu)
c.1912A>G (p.Lys638Glu)
c.25384A>G (p.Lys8462Glu)
c.25333A>G (p.Lys8445Glu)
c.25186A>G (p.Lys8396Glu)
6g.152140102T>GCA366080699SYNE1c.1840A>C (p.Lys614Gln)
c.25306A>C (p.Lys8436Gln)
c.25162A>C (p.Lys8388Gln)
c.708A>C
c.1041A>C
c.950A>C
c.1078A>C (p.Lys360Gln)
c.24091A>C (p.Lys8031Gln)
n.2054A>C
c.4141A>C (p.Lys1381Gln)
n.8998A>C
c.3244A>C (p.Lys1082Gln)
n.8890A>C
n.1920A>C
n.4328A>C
n.2143A>C
c.1771A>C (p.Lys591Gln)
c.25411A>C (p.Lys8471Gln)
c.25399A>C (p.Lys8467Gln)
c.25390A>C (p.Lys8464Gln)
c.25360A>C (p.Lys8454Gln)
c.25396A>C (p.Lys8466Gln)
c.25342A>C (p.Lys8448Gln)
c.25339A>C (p.Lys8447Gln)
c.25327A>C (p.Lys8443Gln)
c.25270A>C (p.Lys8424Gln)
c.25258A>C (p.Lys8420Gln)
c.25255A>C (p.Lys8419Gln)
c.25252A>C (p.Lys8418Gln)
c.25408A>C (p.Lys8470Gln)
c.25246A>C (p.Lys8416Gln)
c.23686A>C (p.Lys7896Gln)
c.23179A>C (p.Lys7727Gln)
c.18646A>C (p.Lys6216Gln)
c.1912A>C (p.Lys638Gln)
c.25384A>C (p.Lys8462Gln)
c.25333A>C (p.Lys8445Gln)
c.25186A>C (p.Lys8396Gln)
6g.152140103C>ACA10604918SYNE1c.1839G>T (p.Met613Ile)
c.25305G>T (p.Met8435Ile)
c.25161G>T (p.Met8387Ile)
c.707G>T
c.1040G>T
c.949G>T
c.1077G>T (p.Met359Ile)
c.24090G>T (p.Met8030Ile)
n.2053G>T
c.4140G>T (p.Met1380Ile)
n.8997G>T
c.3243G>T (p.Met1081Ile)
n.8889G>T
n.1919G>T
n.4327G>T
n.2142G>T
c.1770G>T (p.Met590Ile)
c.25410G>T (p.Met8470Ile)
c.25398G>T (p.Met8466Ile)
c.25389G>T (p.Met8463Ile)
c.25359G>T (p.Met8453Ile)
c.25395G>T (p.Met8465Ile)
c.25341G>T (p.Met8447Ile)
c.25338G>T (p.Met8446Ile)
c.25326G>T (p.Met8442Ile)
c.25269G>T (p.Met8423Ile)
c.25257G>T (p.Met8419Ile)
c.25254G>T (p.Met8418Ile)
c.25251G>T (p.Met8417Ile)
c.25407G>T (p.Met8469Ile)
c.25245G>T (p.Met8415Ile)
c.23685G>T (p.Met7895Ile)
c.23178G>T (p.Met7726Ile)
c.18645G>T (p.Met6215Ile)
c.1911G>T (p.Met637Ile)
c.25383G>T (p.Met8461Ile)
c.25332G>T (p.Met8444Ile)
c.25185G>T (p.Met8395Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140103C=CA1673206365SYNE1c.1839G= (p.Met613=)
c.25305G= (p.Met8435=)
c.25161G= (p.Met8387=)
c.707G=
c.1040G=
c.949G=
c.1077G= (p.Met359=)
c.24090G= (p.Met8030=)
n.2053G=
c.4140G= (p.Met1380=)
n.8997G=
c.3243G= (p.Met1081=)
n.8889G=
n.1919G=
n.4327G=
n.2142G=
c.1770G= (p.Met590=)
c.25410G= (p.Met8470=)
c.25398G= (p.Met8466=)
c.25389G= (p.Met8463=)
c.25359G= (p.Met8453=)
c.25395G= (p.Met8465=)
c.25341G= (p.Met8447=)
c.25338G= (p.Met8446=)
c.25326G= (p.Met8442=)
c.25269G= (p.Met8423=)
c.25257G= (p.Met8419=)
c.25254G= (p.Met8418=)
c.25251G= (p.Met8417=)
c.25407G= (p.Met8469=)
c.25245G= (p.Met8415=)
c.23685G= (p.Met7895=)
c.23178G= (p.Met7726=)
c.18645G= (p.Met6215=)
c.1911G= (p.Met637=)
c.25383G= (p.Met8461=)
c.25332G= (p.Met8444=)
c.25185G= (p.Met8395=)
6g.152140103C>GCA366080707SYNE1c.1839G>C (p.Met613Ile)
c.25305G>C (p.Met8435Ile)
c.25161G>C (p.Met8387Ile)
c.707G>C
c.1040G>C
c.949G>C
c.1077G>C (p.Met359Ile)
c.24090G>C (p.Met8030Ile)
n.2053G>C
c.4140G>C (p.Met1380Ile)
n.8997G>C
c.3243G>C (p.Met1081Ile)
n.8889G>C
n.1919G>C
n.4327G>C
n.2142G>C
c.1770G>C (p.Met590Ile)
c.25410G>C (p.Met8470Ile)
c.25398G>C (p.Met8466Ile)
c.25389G>C (p.Met8463Ile)
c.25359G>C (p.Met8453Ile)
c.25395G>C (p.Met8465Ile)
c.25341G>C (p.Met8447Ile)
c.25338G>C (p.Met8446Ile)
c.25326G>C (p.Met8442Ile)
c.25269G>C (p.Met8423Ile)
c.25257G>C (p.Met8419Ile)
c.25254G>C (p.Met8418Ile)
c.25251G>C (p.Met8417Ile)
c.25407G>C (p.Met8469Ile)
c.25245G>C (p.Met8415Ile)
c.23685G>C (p.Met7895Ile)
c.23178G>C (p.Met7726Ile)
c.18645G>C (p.Met6215Ile)
c.1911G>C (p.Met637Ile)
c.25383G>C (p.Met8461Ile)
c.25332G>C (p.Met8444Ile)
c.25185G>C (p.Met8395Ile)
6g.152140103C>TCA366080704SYNE1c.1839G>A (p.Met613Ile)
c.25305G>A (p.Met8435Ile)
c.25161G>A (p.Met8387Ile)
c.707G>A
c.1040G>A
c.949G>A
c.1077G>A (p.Met359Ile)
c.24090G>A (p.Met8030Ile)
n.2053G>A
c.4140G>A (p.Met1380Ile)
n.8997G>A
c.3243G>A (p.Met1081Ile)
n.8889G>A
n.1919G>A
n.4327G>A
n.2142G>A
c.1770G>A (p.Met590Ile)
c.25410G>A (p.Met8470Ile)
c.25398G>A (p.Met8466Ile)
c.25389G>A (p.Met8463Ile)
c.25359G>A (p.Met8453Ile)
c.25395G>A (p.Met8465Ile)
c.25341G>A (p.Met8447Ile)
c.25338G>A (p.Met8446Ile)
c.25326G>A (p.Met8442Ile)
c.25269G>A (p.Met8423Ile)
c.25257G>A (p.Met8419Ile)
c.25254G>A (p.Met8418Ile)
c.25251G>A (p.Met8417Ile)
c.25407G>A (p.Met8469Ile)
c.25245G>A (p.Met8415Ile)
c.23685G>A (p.Met7895Ile)
c.23178G>A (p.Met7726Ile)
c.18645G>A (p.Met6215Ile)
c.1911G>A (p.Met637Ile)
c.25383G>A (p.Met8461Ile)
c.25332G>A (p.Met8444Ile)
c.25185G>A (p.Met8395Ile)
6g.152140104A>CCA366080711SYNE1c.1838T>G (p.Met613Arg)
c.25304T>G (p.Met8435Arg)
c.25160T>G (p.Met8387Arg)
c.706T>G
c.1039T>G
c.948T>G
c.1076T>G (p.Met359Arg)
c.24089T>G (p.Met8030Arg)
n.2052T>G
c.4139T>G (p.Met1380Arg)
n.8996T>G
c.3242T>G (p.Met1081Arg)
n.8888T>G
n.1918T>G
n.4326T>G
n.2141T>G
c.1769T>G (p.Met590Arg)
c.25409T>G (p.Met8470Arg)
c.25397T>G (p.Met8466Arg)
c.25388T>G (p.Met8463Arg)
c.25358T>G (p.Met8453Arg)
c.25394T>G (p.Met8465Arg)
c.25340T>G (p.Met8447Arg)
c.25337T>G (p.Met8446Arg)
c.25325T>G (p.Met8442Arg)
c.25268T>G (p.Met8423Arg)
c.25256T>G (p.Met8419Arg)
c.25253T>G (p.Met8418Arg)
c.25250T>G (p.Met8417Arg)
c.25406T>G (p.Met8469Arg)
c.25244T>G (p.Met8415Arg)
c.23684T>G (p.Met7895Arg)
c.23177T>G (p.Met7726Arg)
c.18644T>G (p.Met6215Arg)
c.1910T>G (p.Met637Arg)
c.25382T>G (p.Met8461Arg)
c.25331T>G (p.Met8444Arg)
c.25184T>G (p.Met8395Arg)
6g.152140104A>GCA366080720SYNE1c.1838T>C (p.Met613Thr)
c.25304T>C (p.Met8435Thr)
c.25160T>C (p.Met8387Thr)
c.706T>C
c.1039T>C
c.948T>C
c.1076T>C (p.Met359Thr)
c.24089T>C (p.Met8030Thr)
n.2052T>C
c.4139T>C (p.Met1380Thr)
n.8996T>C
c.3242T>C (p.Met1081Thr)
n.8888T>C
n.1918T>C
n.4326T>C
n.2141T>C
c.1769T>C (p.Met590Thr)
c.25409T>C (p.Met8470Thr)
c.25397T>C (p.Met8466Thr)
c.25388T>C (p.Met8463Thr)
c.25358T>C (p.Met8453Thr)
c.25394T>C (p.Met8465Thr)
c.25340T>C (p.Met8447Thr)
c.25337T>C (p.Met8446Thr)
c.25325T>C (p.Met8442Thr)
c.25268T>C (p.Met8423Thr)
c.25256T>C (p.Met8419Thr)
c.25253T>C (p.Met8418Thr)
c.25250T>C (p.Met8417Thr)
c.25406T>C (p.Met8469Thr)
c.25244T>C (p.Met8415Thr)
c.23684T>C (p.Met7895Thr)
c.23177T>C (p.Met7726Thr)
c.18644T>C (p.Met6215Thr)
c.1910T>C (p.Met637Thr)
c.25382T>C (p.Met8461Thr)
c.25331T>C (p.Met8444Thr)
c.25184T>C (p.Met8395Thr)
6g.152140104A>TCA366080724SYNE1c.1838T>A (p.Met613Lys)
c.25304T>A (p.Met8435Lys)
c.25160T>A (p.Met8387Lys)
c.706T>A
c.1039T>A
c.948T>A
c.1076T>A (p.Met359Lys)
c.24089T>A (p.Met8030Lys)
n.2052T>A
c.4139T>A (p.Met1380Lys)
n.8996T>A
c.3242T>A (p.Met1081Lys)
n.8888T>A
n.1918T>A
n.4326T>A
n.2141T>A
c.1769T>A (p.Met590Lys)
c.25409T>A (p.Met8470Lys)
c.25397T>A (p.Met8466Lys)
c.25388T>A (p.Met8463Lys)
c.25358T>A (p.Met8453Lys)
c.25394T>A (p.Met8465Lys)
c.25340T>A (p.Met8447Lys)
c.25337T>A (p.Met8446Lys)
c.25325T>A (p.Met8442Lys)
c.25268T>A (p.Met8423Lys)
c.25256T>A (p.Met8419Lys)
c.25253T>A (p.Met8418Lys)
c.25250T>A (p.Met8417Lys)
c.25406T>A (p.Met8469Lys)
c.25244T>A (p.Met8415Lys)
c.23684T>A (p.Met7895Lys)
c.23177T>A (p.Met7726Lys)
c.18644T>A (p.Met6215Lys)
c.1910T>A (p.Met637Lys)
c.25382T>A (p.Met8461Lys)
c.25331T>A (p.Met8444Lys)
c.25184T>A (p.Met8395Lys)
6g.152140105T>ACA366080727SYNE1c.1837A>T (p.Met613Leu)
c.25303A>T (p.Met8435Leu)
c.25159A>T (p.Met8387Leu)
c.705A>T
c.1038A>T
c.947A>T
c.1075A>T (p.Met359Leu)
c.24088A>T (p.Met8030Leu)
n.2051A>T
c.4138A>T (p.Met1380Leu)
n.8995A>T
c.3241A>T (p.Met1081Leu)
n.8887A>T
n.1917A>T
n.4325A>T
n.2140A>T
c.1768A>T (p.Met590Leu)
c.25408A>T (p.Met8470Leu)
c.25396A>T (p.Met8466Leu)
c.25387A>T (p.Met8463Leu)
c.25357A>T (p.Met8453Leu)
c.25393A>T (p.Met8465Leu)
c.25339A>T (p.Met8447Leu)
c.25336A>T (p.Met8446Leu)
c.25324A>T (p.Met8442Leu)
c.25267A>T (p.Met8423Leu)
c.25255A>T (p.Met8419Leu)
c.25252A>T (p.Met8418Leu)
c.25249A>T (p.Met8417Leu)
c.25405A>T (p.Met8469Leu)
c.25243A>T (p.Met8415Leu)
c.23683A>T (p.Met7895Leu)
c.23176A>T (p.Met7726Leu)
c.18643A>T (p.Met6215Leu)
c.1909A>T (p.Met637Leu)
c.25381A>T (p.Met8461Leu)
c.25330A>T (p.Met8444Leu)
c.25183A>T (p.Met8395Leu)
6g.152140105T>CCA366080728SYNE1c.1837A>G (p.Met613Val)
c.25303A>G (p.Met8435Val)
c.25159A>G (p.Met8387Val)
c.705A>G
c.1038A>G
c.947A>G
c.1075A>G (p.Met359Val)
c.24088A>G (p.Met8030Val)
n.2051A>G
c.4138A>G (p.Met1380Val)
n.8995A>G
c.3241A>G (p.Met1081Val)
n.8887A>G
n.1917A>G
n.4325A>G
n.2140A>G
c.1768A>G (p.Met590Val)
c.25408A>G (p.Met8470Val)
c.25396A>G (p.Met8466Val)
c.25387A>G (p.Met8463Val)
c.25357A>G (p.Met8453Val)
c.25393A>G (p.Met8465Val)
c.25339A>G (p.Met8447Val)
c.25336A>G (p.Met8446Val)
c.25324A>G (p.Met8442Val)
c.25267A>G (p.Met8423Val)
c.25255A>G (p.Met8419Val)
c.25252A>G (p.Met8418Val)
c.25249A>G (p.Met8417Val)
c.25405A>G (p.Met8469Val)
c.25243A>G (p.Met8415Val)
c.23683A>G (p.Met7895Val)
c.23176A>G (p.Met7726Val)
c.18643A>G (p.Met6215Val)
c.1909A>G (p.Met637Val)
c.25381A>G (p.Met8461Val)
c.25330A>G (p.Met8444Val)
c.25183A>G (p.Met8395Val)
 COSMIC COSMIC
6g.152140105T>GCA366080731SYNE1c.1837A>C (p.Met613Leu)
c.25303A>C (p.Met8435Leu)
c.25159A>C (p.Met8387Leu)
c.705A>C
c.1038A>C
c.947A>C
c.1075A>C (p.Met359Leu)
c.24088A>C (p.Met8030Leu)
n.2051A>C
c.4138A>C (p.Met1380Leu)
n.8995A>C
c.3241A>C (p.Met1081Leu)
n.8887A>C
n.1917A>C
n.4325A>C
n.2140A>C
c.1768A>C (p.Met590Leu)
c.25408A>C (p.Met8470Leu)
c.25396A>C (p.Met8466Leu)
c.25387A>C (p.Met8463Leu)
c.25357A>C (p.Met8453Leu)
c.25393A>C (p.Met8465Leu)
c.25339A>C (p.Met8447Leu)
c.25336A>C (p.Met8446Leu)
c.25324A>C (p.Met8442Leu)
c.25267A>C (p.Met8423Leu)
c.25255A>C (p.Met8419Leu)
c.25252A>C (p.Met8418Leu)
c.25249A>C (p.Met8417Leu)
c.25405A>C (p.Met8469Leu)
c.25243A>C (p.Met8415Leu)
c.23683A>C (p.Met7895Leu)
c.23176A>C (p.Met7726Leu)
c.18643A>C (p.Met6215Leu)
c.1909A>C (p.Met637Leu)
c.25381A>C (p.Met8461Leu)
c.25330A>C (p.Met8444Leu)
c.25183A>C (p.Met8395Leu)
6g.152140106C>ACA366080734SYNE1c.1836G>T (p.Arg612Ser)
c.25302G>T (p.Arg8434Ser)
c.25158G>T (p.Arg8386Ser)
c.704G>T
c.1037G>T
c.946G>T
c.1074G>T (p.Arg358Ser)
c.24087G>T (p.Arg8029Ser)
n.2050G>T
c.4137G>T (p.Arg1379Ser)
n.8994G>T
c.3240G>T (p.Arg1080Ser)
n.8886G>T
n.1916G>T
n.4324G>T
n.2139G>T
c.1767G>T (p.Arg589Ser)
c.25407G>T (p.Arg8469Ser)
c.25395G>T (p.Arg8465Ser)
c.25386G>T (p.Arg8462Ser)
c.25356G>T (p.Arg8452Ser)
c.25392G>T (p.Arg8464Ser)
c.25338G>T (p.Arg8446Ser)
c.25335G>T (p.Arg8445Ser)
c.25323G>T (p.Arg8441Ser)
c.25266G>T (p.Arg8422Ser)
c.25254G>T (p.Arg8418Ser)
c.25251G>T (p.Arg8417Ser)
c.25248G>T (p.Arg8416Ser)
c.25404G>T (p.Arg8468Ser)
c.25242G>T (p.Arg8414Ser)
c.23682G>T (p.Arg7894Ser)
c.23175G>T (p.Arg7725Ser)
c.18642G>T (p.Arg6214Ser)
c.1908G>T (p.Arg636Ser)
c.25380G>T (p.Arg8460Ser)
c.25329G>T (p.Arg8443Ser)
c.25182G>T (p.Arg8394Ser)
6g.152140106C=CA1673206371SYNE1c.1836G= (p.Arg612=)
c.25302G= (p.Arg8434=)
c.25158G= (p.Arg8386=)
c.704G=
c.1037G=
c.946G=
c.1074G= (p.Arg358=)
c.24087G= (p.Arg8029=)
n.2050G=
c.4137G= (p.Arg1379=)
n.8994G=
c.3240G= (p.Arg1080=)
n.8886G=
n.1916G=
n.4324G=
n.2139G=
c.1767G= (p.Arg589=)
c.25407G= (p.Arg8469=)
c.25395G= (p.Arg8465=)
c.25386G= (p.Arg8462=)
c.25356G= (p.Arg8452=)
c.25392G= (p.Arg8464=)
c.25338G= (p.Arg8446=)
c.25335G= (p.Arg8445=)
c.25323G= (p.Arg8441=)
c.25266G= (p.Arg8422=)
c.25254G= (p.Arg8418=)
c.25251G= (p.Arg8417=)
c.25248G= (p.Arg8416=)
c.25404G= (p.Arg8468=)
c.25242G= (p.Arg8414=)
c.23682G= (p.Arg7894=)
c.23175G= (p.Arg7725=)
c.18642G= (p.Arg6214=)
c.1908G= (p.Arg636=)
c.25380G= (p.Arg8460=)
c.25329G= (p.Arg8443=)
c.25182G= (p.Arg8394=)
6g.152140106C>GCA366080737SYNE1c.1836G>C (p.Arg612Ser)
c.25302G>C (p.Arg8434Ser)
c.25158G>C (p.Arg8386Ser)
c.704G>C
c.1037G>C
c.946G>C
c.1074G>C (p.Arg358Ser)
c.24087G>C (p.Arg8029Ser)
n.2050G>C
c.4137G>C (p.Arg1379Ser)
n.8994G>C
c.3240G>C (p.Arg1080Ser)
n.8886G>C
n.1916G>C
n.4324G>C
n.2139G>C
c.1767G>C (p.Arg589Ser)
c.25407G>C (p.Arg8469Ser)
c.25395G>C (p.Arg8465Ser)
c.25386G>C (p.Arg8462Ser)
c.25356G>C (p.Arg8452Ser)
c.25392G>C (p.Arg8464Ser)
c.25338G>C (p.Arg8446Ser)
c.25335G>C (p.Arg8445Ser)
c.25323G>C (p.Arg8441Ser)
c.25266G>C (p.Arg8422Ser)
c.25254G>C (p.Arg8418Ser)
c.25251G>C (p.Arg8417Ser)
c.25248G>C (p.Arg8416Ser)
c.25404G>C (p.Arg8468Ser)
c.25242G>C (p.Arg8414Ser)
c.23682G>C (p.Arg7894Ser)
c.23175G>C (p.Arg7725Ser)
c.18642G>C (p.Arg6214Ser)
c.1908G>C (p.Arg636Ser)
c.25380G>C (p.Arg8460Ser)
c.25329G>C (p.Arg8443Ser)
c.25182G>C (p.Arg8394Ser)
6g.152140106C>TCA452969945SYNE1c.1836G>A (p.Arg612=)
c.25302G>A (p.Arg8434=)
c.25158G>A (p.Arg8386=)
c.704G>A
c.1037G>A
c.946G>A
c.1074G>A (p.Arg358=)
c.24087G>A (p.Arg8029=)
n.2050G>A
c.4137G>A (p.Arg1379=)
n.8994G>A
c.3240G>A (p.Arg1080=)
n.8886G>A
n.1916G>A
n.4324G>A
n.2139G>A
c.1767G>A (p.Arg589=)
c.25407G>A (p.Arg8469=)
c.25395G>A (p.Arg8465=)
c.25386G>A (p.Arg8462=)
c.25356G>A (p.Arg8452=)
c.25392G>A (p.Arg8464=)
c.25338G>A (p.Arg8446=)
c.25335G>A (p.Arg8445=)
c.25323G>A (p.Arg8441=)
c.25266G>A (p.Arg8422=)
c.25254G>A (p.Arg8418=)
c.25251G>A (p.Arg8417=)
c.25248G>A (p.Arg8416=)
c.25404G>A (p.Arg8468=)
c.25242G>A (p.Arg8414=)
c.23682G>A (p.Arg7894=)
c.23175G>A (p.Arg7725=)
c.18642G>A (p.Arg6214=)
c.1908G>A (p.Arg636=)
c.25380G>A (p.Arg8460=)
c.25329G>A (p.Arg8443=)
c.25182G>A (p.Arg8394=)
 dbSNP gnomAD v4
6g.152140107C>ACA366080739SYNE1c.1835G>T (p.Arg612Met)
c.25301G>T (p.Arg8434Met)
c.25157G>T (p.Arg8386Met)
c.703G>T
c.1036G>T
c.945G>T
c.1073G>T (p.Arg358Met)
c.24086G>T (p.Arg8029Met)
n.2049G>T
c.4136G>T (p.Arg1379Met)
n.8993G>T
c.3239G>T (p.Arg1080Met)
n.8885G>T
n.1915G>T
n.4323G>T
n.2138G>T
c.1766G>T (p.Arg589Met)
c.25406G>T (p.Arg8469Met)
c.25394G>T (p.Arg8465Met)
c.25385G>T (p.Arg8462Met)
c.25355G>T (p.Arg8452Met)
c.25391G>T (p.Arg8464Met)
c.25337G>T (p.Arg8446Met)
c.25334G>T (p.Arg8445Met)
c.25322G>T (p.Arg8441Met)
c.25265G>T (p.Arg8422Met)
c.25253G>T (p.Arg8418Met)
c.25250G>T (p.Arg8417Met)
c.25247G>T (p.Arg8416Met)
c.25403G>T (p.Arg8468Met)
c.25241G>T (p.Arg8414Met)
c.23681G>T (p.Arg7894Met)
c.23174G>T (p.Arg7725Met)
c.18641G>T (p.Arg6214Met)
c.1907G>T (p.Arg636Met)
c.25379G>T (p.Arg8460Met)
c.25328G>T (p.Arg8443Met)
c.25181G>T (p.Arg8394Met)
6g.152140107C>GCA366080740SYNE1c.1835G>C (p.Arg612Thr)
c.25301G>C (p.Arg8434Thr)
c.25157G>C (p.Arg8386Thr)
c.703G>C
c.1036G>C
c.945G>C
c.1073G>C (p.Arg358Thr)
c.24086G>C (p.Arg8029Thr)
n.2049G>C
c.4136G>C (p.Arg1379Thr)
n.8993G>C
c.3239G>C (p.Arg1080Thr)
n.8885G>C
n.1915G>C
n.4323G>C
n.2138G>C
c.1766G>C (p.Arg589Thr)
c.25406G>C (p.Arg8469Thr)
c.25394G>C (p.Arg8465Thr)
c.25385G>C (p.Arg8462Thr)
c.25355G>C (p.Arg8452Thr)
c.25391G>C (p.Arg8464Thr)
c.25337G>C (p.Arg8446Thr)
c.25334G>C (p.Arg8445Thr)
c.25322G>C (p.Arg8441Thr)
c.25265G>C (p.Arg8422Thr)
c.25253G>C (p.Arg8418Thr)
c.25250G>C (p.Arg8417Thr)
c.25247G>C (p.Arg8416Thr)
c.25403G>C (p.Arg8468Thr)
c.25241G>C (p.Arg8414Thr)
c.23681G>C (p.Arg7894Thr)
c.23174G>C (p.Arg7725Thr)
c.18641G>C (p.Arg6214Thr)
c.1907G>C (p.Arg636Thr)
c.25379G>C (p.Arg8460Thr)
c.25328G>C (p.Arg8443Thr)
c.25181G>C (p.Arg8394Thr)
6g.152140107C>TCA366080747SYNE1c.1835G>A (p.Arg612Lys)
c.25301G>A (p.Arg8434Lys)
c.25157G>A (p.Arg8386Lys)
c.703G>A
c.1036G>A
c.945G>A
c.1073G>A (p.Arg358Lys)
c.24086G>A (p.Arg8029Lys)
n.2049G>A
c.4136G>A (p.Arg1379Lys)
n.8993G>A
c.3239G>A (p.Arg1080Lys)
n.8885G>A
n.1915G>A
n.4323G>A
n.2138G>A
c.1766G>A (p.Arg589Lys)
c.25406G>A (p.Arg8469Lys)
c.25394G>A (p.Arg8465Lys)
c.25385G>A (p.Arg8462Lys)
c.25355G>A (p.Arg8452Lys)
c.25391G>A (p.Arg8464Lys)
c.25337G>A (p.Arg8446Lys)
c.25334G>A (p.Arg8445Lys)
c.25322G>A (p.Arg8441Lys)
c.25265G>A (p.Arg8422Lys)
c.25253G>A (p.Arg8418Lys)
c.25250G>A (p.Arg8417Lys)
c.25247G>A (p.Arg8416Lys)
c.25403G>A (p.Arg8468Lys)
c.25241G>A (p.Arg8414Lys)
c.23681G>A (p.Arg7894Lys)
c.23174G>A (p.Arg7725Lys)
c.18641G>A (p.Arg6214Lys)
c.1907G>A (p.Arg636Lys)
c.25379G>A (p.Arg8460Lys)
c.25328G>A (p.Arg8443Lys)
c.25181G>A (p.Arg8394Lys)
6g.152140108T>ACA366080752SYNE1c.1834A>T (p.Arg612Trp)
c.25300A>T (p.Arg8434Trp)
c.25156A>T (p.Arg8386Trp)
c.702A>T
c.1035A>T
c.944A>T
c.1072A>T (p.Arg358Trp)
c.24085A>T (p.Arg8029Trp)
n.2048A>T
c.4135A>T (p.Arg1379Trp)
n.8992A>T
c.3238A>T (p.Arg1080Trp)
n.8884A>T
n.1914A>T
n.4322A>T
n.2137A>T
c.1765A>T (p.Arg589Trp)
c.25405A>T (p.Arg8469Trp)
c.25393A>T (p.Arg8465Trp)
c.25384A>T (p.Arg8462Trp)
c.25354A>T (p.Arg8452Trp)
c.25390A>T (p.Arg8464Trp)
c.25336A>T (p.Arg8446Trp)
c.25333A>T (p.Arg8445Trp)
c.25321A>T (p.Arg8441Trp)
c.25264A>T (p.Arg8422Trp)
c.25252A>T (p.Arg8418Trp)
c.25249A>T (p.Arg8417Trp)
c.25246A>T (p.Arg8416Trp)
c.25402A>T (p.Arg8468Trp)
c.25240A>T (p.Arg8414Trp)
c.23680A>T (p.Arg7894Trp)
c.23173A>T (p.Arg7725Trp)
c.18640A>T (p.Arg6214Trp)
c.1906A>T (p.Arg636Trp)
c.25378A>T (p.Arg8460Trp)
c.25327A>T (p.Arg8443Trp)
c.25180A>T (p.Arg8394Trp)
6g.152140108T>CCA366080753SYNE1c.1834A>G (p.Arg612Gly)
c.25300A>G (p.Arg8434Gly)
c.25156A>G (p.Arg8386Gly)
c.702A>G
c.1035A>G
c.944A>G
c.1072A>G (p.Arg358Gly)
c.24085A>G (p.Arg8029Gly)
n.2048A>G
c.4135A>G (p.Arg1379Gly)
n.8992A>G
c.3238A>G (p.Arg1080Gly)
n.8884A>G
n.1914A>G
n.4322A>G
n.2137A>G
c.1765A>G (p.Arg589Gly)
c.25405A>G (p.Arg8469Gly)
c.25393A>G (p.Arg8465Gly)
c.25384A>G (p.Arg8462Gly)
c.25354A>G (p.Arg8452Gly)
c.25390A>G (p.Arg8464Gly)
c.25336A>G (p.Arg8446Gly)
c.25333A>G (p.Arg8445Gly)
c.25321A>G (p.Arg8441Gly)
c.25264A>G (p.Arg8422Gly)
c.25252A>G (p.Arg8418Gly)
c.25249A>G (p.Arg8417Gly)
c.25246A>G (p.Arg8416Gly)
c.25402A>G (p.Arg8468Gly)
c.25240A>G (p.Arg8414Gly)
c.23680A>G (p.Arg7894Gly)
c.23173A>G (p.Arg7725Gly)
c.18640A>G (p.Arg6214Gly)
c.1906A>G (p.Arg636Gly)
c.25378A>G (p.Arg8460Gly)
c.25327A>G (p.Arg8443Gly)
c.25180A>G (p.Arg8394Gly)
6g.152140108T>GCA452969946SYNE1c.1834A>C (p.Arg612=)
c.25300A>C (p.Arg8434=)
c.25156A>C (p.Arg8386=)
c.702A>C
c.1035A>C
c.944A>C
c.1072A>C (p.Arg358=)
c.24085A>C (p.Arg8029=)
n.2048A>C
c.4135A>C (p.Arg1379=)
n.8992A>C
c.3238A>C (p.Arg1080=)
n.8884A>C
n.1914A>C
n.4322A>C
n.2137A>C
c.1765A>C (p.Arg589=)
c.25405A>C (p.Arg8469=)
c.25393A>C (p.Arg8465=)
c.25384A>C (p.Arg8462=)
c.25354A>C (p.Arg8452=)
c.25390A>C (p.Arg8464=)
c.25336A>C (p.Arg8446=)
c.25333A>C (p.Arg8445=)
c.25321A>C (p.Arg8441=)
c.25264A>C (p.Arg8422=)
c.25252A>C (p.Arg8418=)
c.25249A>C (p.Arg8417=)
c.25246A>C (p.Arg8416=)
c.25402A>C (p.Arg8468=)
c.25240A>C (p.Arg8414=)
c.23680A>C (p.Arg7894=)
c.23173A>C (p.Arg7725=)
c.18640A>C (p.Arg6214=)
c.1906A>C (p.Arg636=)
c.25378A>C (p.Arg8460=)
c.25327A>C (p.Arg8443=)
c.25180A>C (p.Arg8394=)
6g.152140109C>ACA366080758SYNE1c.1833G>T (p.Leu611Phe)
c.25299G>T (p.Leu8433Phe)
c.25155G>T (p.Leu8385Phe)
c.701G>T
c.1034G>T
c.943G>T
c.1071G>T (p.Leu357Phe)
c.24084G>T (p.Leu8028Phe)
n.2047G>T
c.4134G>T (p.Leu1378Phe)
n.8991G>T
c.3237G>T (p.Leu1079Phe)
n.8883G>T
n.1913G>T
n.4321G>T
n.2136G>T
c.1764G>T (p.Leu588Phe)
c.25404G>T (p.Leu8468Phe)
c.25392G>T (p.Leu8464Phe)
c.25383G>T (p.Leu8461Phe)
c.25353G>T (p.Leu8451Phe)
c.25389G>T (p.Leu8463Phe)
c.25335G>T (p.Leu8445Phe)
c.25332G>T (p.Leu8444Phe)
c.25320G>T (p.Leu8440Phe)
c.25263G>T (p.Leu8421Phe)
c.25251G>T (p.Leu8417Phe)
c.25248G>T (p.Leu8416Phe)
c.25245G>T (p.Leu8415Phe)
c.25401G>T (p.Leu8467Phe)
c.25239G>T (p.Leu8413Phe)
c.23679G>T (p.Leu7893Phe)
c.23172G>T (p.Leu7724Phe)
c.18639G>T (p.Leu6213Phe)
c.1905G>T (p.Leu635Phe)
c.25377G>T (p.Leu8459Phe)
c.25326G>T (p.Leu8442Phe)
c.25179G>T (p.Leu8393Phe)
6g.152140109C>GCA366080757SYNE1c.1833G>C (p.Leu611Phe)
c.25299G>C (p.Leu8433Phe)
c.25155G>C (p.Leu8385Phe)
c.701G>C
c.1034G>C
c.943G>C
c.1071G>C (p.Leu357Phe)
c.24084G>C (p.Leu8028Phe)
n.2047G>C
c.4134G>C (p.Leu1378Phe)
n.8991G>C
c.3237G>C (p.Leu1079Phe)
n.8883G>C
n.1913G>C
n.4321G>C
n.2136G>C
c.1764G>C (p.Leu588Phe)
c.25404G>C (p.Leu8468Phe)
c.25392G>C (p.Leu8464Phe)
c.25383G>C (p.Leu8461Phe)
c.25353G>C (p.Leu8451Phe)
c.25389G>C (p.Leu8463Phe)
c.25335G>C (p.Leu8445Phe)
c.25332G>C (p.Leu8444Phe)
c.25320G>C (p.Leu8440Phe)
c.25263G>C (p.Leu8421Phe)
c.25251G>C (p.Leu8417Phe)
c.25248G>C (p.Leu8416Phe)
c.25245G>C (p.Leu8415Phe)
c.25401G>C (p.Leu8467Phe)
c.25239G>C (p.Leu8413Phe)
c.23679G>C (p.Leu7893Phe)
c.23172G>C (p.Leu7724Phe)
c.18639G>C (p.Leu6213Phe)
c.1905G>C (p.Leu635Phe)
c.25377G>C (p.Leu8459Phe)
c.25326G>C (p.Leu8442Phe)
c.25179G>C (p.Leu8393Phe)
6g.152140109C>TCA452969947SYNE1c.1833G>A (p.Leu611=)
c.25299G>A (p.Leu8433=)
c.25155G>A (p.Leu8385=)
c.701G>A
c.1034G>A
c.943G>A
c.1071G>A (p.Leu357=)
c.24084G>A (p.Leu8028=)
n.2047G>A
c.4134G>A (p.Leu1378=)
n.8991G>A
c.3237G>A (p.Leu1079=)
n.8883G>A
n.1913G>A
n.4321G>A
n.2136G>A
c.1764G>A (p.Leu588=)
c.25404G>A (p.Leu8468=)
c.25392G>A (p.Leu8464=)
c.25383G>A (p.Leu8461=)
c.25353G>A (p.Leu8451=)
c.25389G>A (p.Leu8463=)
c.25335G>A (p.Leu8445=)
c.25332G>A (p.Leu8444=)
c.25320G>A (p.Leu8440=)
c.25263G>A (p.Leu8421=)
c.25251G>A (p.Leu8417=)
c.25248G>A (p.Leu8416=)
c.25245G>A (p.Leu8415=)
c.25401G>A (p.Leu8467=)
c.25239G>A (p.Leu8413=)
c.23679G>A (p.Leu7893=)
c.23172G>A (p.Leu7724=)
c.18639G>A (p.Leu6213=)
c.1905G>A (p.Leu635=)
c.25377G>A (p.Leu8459=)
c.25326G>A (p.Leu8442=)
c.25179G>A (p.Leu8393=)
6g.152140110A>CCA366080764SYNE1c.1832T>G (p.Leu611Trp)
c.25298T>G (p.Leu8433Trp)
c.25154T>G (p.Leu8385Trp)
c.700T>G
c.1033T>G
c.942T>G
c.1070T>G (p.Leu357Trp)
c.24083T>G (p.Leu8028Trp)
n.2046T>G
c.4133T>G (p.Leu1378Trp)
n.8990T>G
c.3236T>G (p.Leu1079Trp)
n.8882T>G
n.1912T>G
n.4320T>G
n.2135T>G
c.1763T>G (p.Leu588Trp)
c.25403T>G (p.Leu8468Trp)
c.25391T>G (p.Leu8464Trp)
c.25382T>G (p.Leu8461Trp)
c.25352T>G (p.Leu8451Trp)
c.25388T>G (p.Leu8463Trp)
c.25334T>G (p.Leu8445Trp)
c.25331T>G (p.Leu8444Trp)
c.25319T>G (p.Leu8440Trp)
c.25262T>G (p.Leu8421Trp)
c.25250T>G (p.Leu8417Trp)
c.25247T>G (p.Leu8416Trp)
c.25244T>G (p.Leu8415Trp)
c.25400T>G (p.Leu8467Trp)
c.25238T>G (p.Leu8413Trp)
c.23678T>G (p.Leu7893Trp)
c.23171T>G (p.Leu7724Trp)
c.18638T>G (p.Leu6213Trp)
c.1904T>G (p.Leu635Trp)
c.25376T>G (p.Leu8459Trp)
c.25325T>G (p.Leu8442Trp)
c.25178T>G (p.Leu8393Trp)
6g.152140110A>GCA366080766SYNE1c.1832T>C (p.Leu611Ser)
c.25298T>C (p.Leu8433Ser)
c.25154T>C (p.Leu8385Ser)
c.700T>C
c.1033T>C
c.942T>C
c.1070T>C (p.Leu357Ser)
c.24083T>C (p.Leu8028Ser)
n.2046T>C
c.4133T>C (p.Leu1378Ser)
n.8990T>C
c.3236T>C (p.Leu1079Ser)
n.8882T>C
n.1912T>C
n.4320T>C
n.2135T>C
c.1763T>C (p.Leu588Ser)
c.25403T>C (p.Leu8468Ser)
c.25391T>C (p.Leu8464Ser)
c.25382T>C (p.Leu8461Ser)
c.25352T>C (p.Leu8451Ser)
c.25388T>C (p.Leu8463Ser)
c.25334T>C (p.Leu8445Ser)
c.25331T>C (p.Leu8444Ser)
c.25319T>C (p.Leu8440Ser)
c.25262T>C (p.Leu8421Ser)
c.25250T>C (p.Leu8417Ser)
c.25247T>C (p.Leu8416Ser)
c.25244T>C (p.Leu8415Ser)
c.25400T>C (p.Leu8467Ser)
c.25238T>C (p.Leu8413Ser)
c.23678T>C (p.Leu7893Ser)
c.23171T>C (p.Leu7724Ser)
c.18638T>C (p.Leu6213Ser)
c.1904T>C (p.Leu635Ser)
c.25376T>C (p.Leu8459Ser)
c.25325T>C (p.Leu8442Ser)
c.25178T>C (p.Leu8393Ser)
6g.152140110A>TCA366080770SYNE1c.1832T>A (p.Leu611Ter)
c.25298T>A (p.Leu8433Ter)
c.25154T>A (p.Leu8385Ter)
c.700T>A
c.1033T>A
c.942T>A
c.1070T>A (p.Leu357Ter)
c.24083T>A (p.Leu8028Ter)
n.2046T>A
c.4133T>A (p.Leu1378Ter)
n.8990T>A
c.3236T>A (p.Leu1079Ter)
n.8882T>A
n.1912T>A
n.4320T>A
n.2135T>A
c.1763T>A (p.Leu588Ter)
c.25403T>A (p.Leu8468Ter)
c.25391T>A (p.Leu8464Ter)
c.25382T>A (p.Leu8461Ter)
c.25352T>A (p.Leu8451Ter)
c.25388T>A (p.Leu8463Ter)
c.25334T>A (p.Leu8445Ter)
c.25331T>A (p.Leu8444Ter)
c.25319T>A (p.Leu8440Ter)
c.25262T>A (p.Leu8421Ter)
c.25250T>A (p.Leu8417Ter)
c.25247T>A (p.Leu8416Ter)
c.25244T>A (p.Leu8415Ter)
c.25400T>A (p.Leu8467Ter)
c.25238T>A (p.Leu8413Ter)
c.23678T>A (p.Leu7893Ter)
c.23171T>A (p.Leu7724Ter)
c.18638T>A (p.Leu6213Ter)
c.1904T>A (p.Leu635Ter)
c.25376T>A (p.Leu8459Ter)
c.25325T>A (p.Leu8442Ter)
c.25178T>A (p.Leu8393Ter)
6g.152140111A=CA1673206375SYNE1c.1831T= (p.Leu611=)
c.25297T= (p.Leu8433=)
c.25153T= (p.Leu8385=)
c.699T=
c.1032T=
c.941T=
c.1069T= (p.Leu357=)
c.24082T= (p.Leu8028=)
n.2045T=
c.4132T= (p.Leu1378=)
n.8989T=
c.3235T= (p.Leu1079=)
n.8881T=
n.1911T=
n.4319T=
n.2134T=
c.1762T= (p.Leu588=)
c.25402T= (p.Leu8468=)
c.25390T= (p.Leu8464=)
c.25381T= (p.Leu8461=)
c.25351T= (p.Leu8451=)
c.25387T= (p.Leu8463=)
c.25333T= (p.Leu8445=)
c.25330T= (p.Leu8444=)
c.25318T= (p.Leu8440=)
c.25261T= (p.Leu8421=)
c.25249T= (p.Leu8417=)
c.25246T= (p.Leu8416=)
c.25243T= (p.Leu8415=)
c.25399T= (p.Leu8467=)
c.25237T= (p.Leu8413=)
c.23677T= (p.Leu7893=)
c.23170T= (p.Leu7724=)
c.18637T= (p.Leu6213=)
c.1903T= (p.Leu635=)
c.25375T= (p.Leu8459=)
c.25324T= (p.Leu8442=)
c.25177T= (p.Leu8393=)
6g.152140111A>CCA366080772SYNE1c.1831T>G (p.Leu611Val)
c.25297T>G (p.Leu8433Val)
c.25153T>G (p.Leu8385Val)
c.699T>G
c.1032T>G
c.941T>G
c.1069T>G (p.Leu357Val)
c.24082T>G (p.Leu8028Val)
n.2045T>G
c.4132T>G (p.Leu1378Val)
n.8989T>G
c.3235T>G (p.Leu1079Val)
n.8881T>G
n.1911T>G
n.4319T>G
n.2134T>G
c.1762T>G (p.Leu588Val)
c.25402T>G (p.Leu8468Val)
c.25390T>G (p.Leu8464Val)
c.25381T>G (p.Leu8461Val)
c.25351T>G (p.Leu8451Val)
c.25387T>G (p.Leu8463Val)
c.25333T>G (p.Leu8445Val)
c.25330T>G (p.Leu8444Val)
c.25318T>G (p.Leu8440Val)
c.25261T>G (p.Leu8421Val)
c.25249T>G (p.Leu8417Val)
c.25246T>G (p.Leu8416Val)
c.25243T>G (p.Leu8415Val)
c.25399T>G (p.Leu8467Val)
c.25237T>G (p.Leu8413Val)
c.23677T>G (p.Leu7893Val)
c.23170T>G (p.Leu7724Val)
c.18637T>G (p.Leu6213Val)
c.1903T>G (p.Leu635Val)
c.25375T>G (p.Leu8459Val)
c.25324T>G (p.Leu8442Val)
c.25177T>G (p.Leu8393Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140111A>GCA452969948SYNE1c.1831T>C (p.Leu611=)
c.25297T>C (p.Leu8433=)
c.25153T>C (p.Leu8385=)
c.699T>C
c.1032T>C
c.941T>C
c.1069T>C (p.Leu357=)
c.24082T>C (p.Leu8028=)
n.2045T>C
c.4132T>C (p.Leu1378=)
n.8989T>C
c.3235T>C (p.Leu1079=)
n.8881T>C
n.1911T>C
n.4319T>C
n.2134T>C
c.1762T>C (p.Leu588=)
c.25402T>C (p.Leu8468=)
c.25390T>C (p.Leu8464=)
c.25381T>C (p.Leu8461=)
c.25351T>C (p.Leu8451=)
c.25387T>C (p.Leu8463=)
c.25333T>C (p.Leu8445=)
c.25330T>C (p.Leu8444=)
c.25318T>C (p.Leu8440=)
c.25261T>C (p.Leu8421=)
c.25249T>C (p.Leu8417=)
c.25246T>C (p.Leu8416=)
c.25243T>C (p.Leu8415=)
c.25399T>C (p.Leu8467=)
c.25237T>C (p.Leu8413=)
c.23677T>C (p.Leu7893=)
c.23170T>C (p.Leu7724=)
c.18637T>C (p.Leu6213=)
c.1903T>C (p.Leu635=)
c.25375T>C (p.Leu8459=)
c.25324T>C (p.Leu8442=)
c.25177T>C (p.Leu8393=)
6g.152140111A>TCA366080775SYNE1c.1831T>A (p.Leu611Met)
c.25297T>A (p.Leu8433Met)
c.25153T>A (p.Leu8385Met)
c.699T>A
c.1032T>A
c.941T>A
c.1069T>A (p.Leu357Met)
c.24082T>A (p.Leu8028Met)
n.2045T>A
c.4132T>A (p.Leu1378Met)
n.8989T>A
c.3235T>A (p.Leu1079Met)
n.8881T>A
n.1911T>A
n.4319T>A
n.2134T>A
c.1762T>A (p.Leu588Met)
c.25402T>A (p.Leu8468Met)
c.25390T>A (p.Leu8464Met)
c.25381T>A (p.Leu8461Met)
c.25351T>A (p.Leu8451Met)
c.25387T>A (p.Leu8463Met)
c.25333T>A (p.Leu8445Met)
c.25330T>A (p.Leu8444Met)
c.25318T>A (p.Leu8440Met)
c.25261T>A (p.Leu8421Met)
c.25249T>A (p.Leu8417Met)
c.25246T>A (p.Leu8416Met)
c.25243T>A (p.Leu8415Met)
c.25399T>A (p.Leu8467Met)
c.25237T>A (p.Leu8413Met)
c.23677T>A (p.Leu7893Met)
c.23170T>A (p.Leu7724Met)
c.18637T>A (p.Leu6213Met)
c.1903T>A (p.Leu635Met)
c.25375T>A (p.Leu8459Met)
c.25324T>A (p.Leu8442Met)
c.25177T>A (p.Leu8393Met)
6g.152140112C>ACA366080777SYNE1c.1830G>T (p.Glu610Asp)
c.25296G>T (p.Glu8432Asp)
c.25152G>T (p.Glu8384Asp)
c.698G>T
c.1031G>T
c.940G>T
c.1068G>T (p.Glu356Asp)
c.24081G>T (p.Glu8027Asp)
n.2044G>T
c.4131G>T (p.Glu1377Asp)
n.8988G>T
c.3234G>T (p.Glu1078Asp)
n.8880G>T
n.1910G>T
n.4318G>T
n.2133G>T
c.1761G>T (p.Glu587Asp)
c.25401G>T (p.Glu8467Asp)
c.25389G>T (p.Glu8463Asp)
c.25380G>T (p.Glu8460Asp)
c.25350G>T (p.Glu8450Asp)
c.25386G>T (p.Glu8462Asp)
c.25332G>T (p.Glu8444Asp)
c.25329G>T (p.Glu8443Asp)
c.25317G>T (p.Glu8439Asp)
c.25260G>T (p.Glu8420Asp)
c.25248G>T (p.Glu8416Asp)
c.25245G>T (p.Glu8415Asp)
c.25242G>T (p.Glu8414Asp)
c.25398G>T (p.Glu8466Asp)
c.25236G>T (p.Glu8412Asp)
c.23676G>T (p.Glu7892Asp)
c.23169G>T (p.Glu7723Asp)
c.18636G>T (p.Glu6212Asp)
c.1902G>T (p.Glu634Asp)
c.25374G>T (p.Glu8458Asp)
c.25323G>T (p.Glu8441Asp)
c.25176G>T (p.Glu8392Asp)
6g.152140112C>GCA366080780SYNE1c.1830G>C (p.Glu610Asp)
c.25296G>C (p.Glu8432Asp)
c.25152G>C (p.Glu8384Asp)
c.698G>C
c.1031G>C
c.940G>C
c.1068G>C (p.Glu356Asp)
c.24081G>C (p.Glu8027Asp)
n.2044G>C
c.4131G>C (p.Glu1377Asp)
n.8988G>C
c.3234G>C (p.Glu1078Asp)
n.8880G>C
n.1910G>C
n.4318G>C
n.2133G>C
c.1761G>C (p.Glu587Asp)
c.25401G>C (p.Glu8467Asp)
c.25389G>C (p.Glu8463Asp)
c.25380G>C (p.Glu8460Asp)
c.25350G>C (p.Glu8450Asp)
c.25386G>C (p.Glu8462Asp)
c.25332G>C (p.Glu8444Asp)
c.25329G>C (p.Glu8443Asp)
c.25317G>C (p.Glu8439Asp)
c.25260G>C (p.Glu8420Asp)
c.25248G>C (p.Glu8416Asp)
c.25245G>C (p.Glu8415Asp)
c.25242G>C (p.Glu8414Asp)
c.25398G>C (p.Glu8466Asp)
c.25236G>C (p.Glu8412Asp)
c.23676G>C (p.Glu7892Asp)
c.23169G>C (p.Glu7723Asp)
c.18636G>C (p.Glu6212Asp)
c.1902G>C (p.Glu634Asp)
c.25374G>C (p.Glu8458Asp)
c.25323G>C (p.Glu8441Asp)
c.25176G>C (p.Glu8392Asp)
6g.152140112C>TCA452969950SYNE1c.1830G>A (p.Glu610=)
c.25296G>A (p.Glu8432=)
c.25152G>A (p.Glu8384=)
c.698G>A
c.1031G>A
c.940G>A
c.1068G>A (p.Glu356=)
c.24081G>A (p.Glu8027=)
n.2044G>A
c.4131G>A (p.Glu1377=)
n.8988G>A
c.3234G>A (p.Glu1078=)
n.8880G>A
n.1910G>A
n.4318G>A
n.2133G>A
c.1761G>A (p.Glu587=)
c.25401G>A (p.Glu8467=)
c.25389G>A (p.Glu8463=)
c.25380G>A (p.Glu8460=)
c.25350G>A (p.Glu8450=)
c.25386G>A (p.Glu8462=)
c.25332G>A (p.Glu8444=)
c.25329G>A (p.Glu8443=)
c.25317G>A (p.Glu8439=)
c.25260G>A (p.Glu8420=)
c.25248G>A (p.Glu8416=)
c.25245G>A (p.Glu8415=)
c.25242G>A (p.Glu8414=)
c.25398G>A (p.Glu8466=)
c.25236G>A (p.Glu8412=)
c.23676G>A (p.Glu7892=)
c.23169G>A (p.Glu7723=)
c.18636G>A (p.Glu6212=)
c.1902G>A (p.Glu634=)
c.25374G>A (p.Glu8458=)
c.25323G>A (p.Glu8441=)
c.25176G>A (p.Glu8392=)
6g.152140113T>ACA366080781SYNE1c.1829A>T (p.Glu610Val)
c.25295A>T (p.Glu8432Val)
c.25151A>T (p.Glu8384Val)
c.697A>T
c.1030A>T
c.939A>T
c.1067A>T (p.Glu356Val)
c.24080A>T (p.Glu8027Val)
n.2043A>T
c.4130A>T (p.Glu1377Val)
n.8987A>T
c.3233A>T (p.Glu1078Val)
n.8879A>T
n.1909A>T
n.4317A>T
n.2132A>T
c.1760A>T (p.Glu587Val)
c.25400A>T (p.Glu8467Val)
c.25388A>T (p.Glu8463Val)
c.25379A>T (p.Glu8460Val)
c.25349A>T (p.Glu8450Val)
c.25385A>T (p.Glu8462Val)
c.25331A>T (p.Glu8444Val)
c.25328A>T (p.Glu8443Val)
c.25316A>T (p.Glu8439Val)
c.25259A>T (p.Glu8420Val)
c.25247A>T (p.Glu8416Val)
c.25244A>T (p.Glu8415Val)
c.25241A>T (p.Glu8414Val)
c.25397A>T (p.Glu8466Val)
c.25235A>T (p.Glu8412Val)
c.23675A>T (p.Glu7892Val)
c.23168A>T (p.Glu7723Val)
c.18635A>T (p.Glu6212Val)
c.1901A>T (p.Glu634Val)
c.25373A>T (p.Glu8458Val)
c.25322A>T (p.Glu8441Val)
c.25175A>T (p.Glu8392Val)
6g.152140113T>CCA366080782SYNE1c.1829A>G (p.Glu610Gly)
c.25295A>G (p.Glu8432Gly)
c.25151A>G (p.Glu8384Gly)
c.697A>G
c.1030A>G
c.939A>G
c.1067A>G (p.Glu356Gly)
c.24080A>G (p.Glu8027Gly)
n.2043A>G
c.4130A>G (p.Glu1377Gly)
n.8987A>G
c.3233A>G (p.Glu1078Gly)
n.8879A>G
n.1909A>G
n.4317A>G
n.2132A>G
c.1760A>G (p.Glu587Gly)
c.25400A>G (p.Glu8467Gly)
c.25388A>G (p.Glu8463Gly)
c.25379A>G (p.Glu8460Gly)
c.25349A>G (p.Glu8450Gly)
c.25385A>G (p.Glu8462Gly)
c.25331A>G (p.Glu8444Gly)
c.25328A>G (p.Glu8443Gly)
c.25316A>G (p.Glu8439Gly)
c.25259A>G (p.Glu8420Gly)
c.25247A>G (p.Glu8416Gly)
c.25244A>G (p.Glu8415Gly)
c.25241A>G (p.Glu8414Gly)
c.25397A>G (p.Glu8466Gly)
c.25235A>G (p.Glu8412Gly)
c.23675A>G (p.Glu7892Gly)
c.23168A>G (p.Glu7723Gly)
c.18635A>G (p.Glu6212Gly)
c.1901A>G (p.Glu634Gly)
c.25373A>G (p.Glu8458Gly)
c.25322A>G (p.Glu8441Gly)
c.25175A>G (p.Glu8392Gly)
6g.152140113T>GCA366080783SYNE1c.1829A>C (p.Glu610Ala)
c.25295A>C (p.Glu8432Ala)
c.25151A>C (p.Glu8384Ala)
c.697A>C
c.1030A>C
c.939A>C
c.1067A>C (p.Glu356Ala)
c.24080A>C (p.Glu8027Ala)
n.2043A>C
c.4130A>C (p.Glu1377Ala)
n.8987A>C
c.3233A>C (p.Glu1078Ala)
n.8879A>C
n.1909A>C
n.4317A>C
n.2132A>C
c.1760A>C (p.Glu587Ala)
c.25400A>C (p.Glu8467Ala)
c.25388A>C (p.Glu8463Ala)
c.25379A>C (p.Glu8460Ala)
c.25349A>C (p.Glu8450Ala)
c.25385A>C (p.Glu8462Ala)
c.25331A>C (p.Glu8444Ala)
c.25328A>C (p.Glu8443Ala)
c.25316A>C (p.Glu8439Ala)
c.25259A>C (p.Glu8420Ala)
c.25247A>C (p.Glu8416Ala)
c.25244A>C (p.Glu8415Ala)
c.25241A>C (p.Glu8414Ala)
c.25397A>C (p.Glu8466Ala)
c.25235A>C (p.Glu8412Ala)
c.23675A>C (p.Glu7892Ala)
c.23168A>C (p.Glu7723Ala)
c.18635A>C (p.Glu6212Ala)
c.1901A>C (p.Glu634Ala)
c.25373A>C (p.Glu8458Ala)
c.25322A>C (p.Glu8441Ala)
c.25175A>C (p.Glu8392Ala)
6g.152140114C>ACA366080784SYNE1c.1828G>T (p.Glu610Ter)
c.25294G>T (p.Glu8432Ter)
c.25150G>T (p.Glu8384Ter)
c.696G>T
c.1029G>T
c.938G>T
c.1066G>T (p.Glu356Ter)
c.24079G>T (p.Glu8027Ter)
n.2042G>T
c.4129G>T (p.Glu1377Ter)
n.8986G>T
c.3232G>T (p.Glu1078Ter)
n.8878G>T
n.1908G>T
n.4316G>T
n.2131G>T
c.1759G>T (p.Glu587Ter)
c.25399G>T (p.Glu8467Ter)
c.25387G>T (p.Glu8463Ter)
c.25378G>T (p.Glu8460Ter)
c.25348G>T (p.Glu8450Ter)
c.25384G>T (p.Glu8462Ter)
c.25330G>T (p.Glu8444Ter)
c.25327G>T (p.Glu8443Ter)
c.25315G>T (p.Glu8439Ter)
c.25258G>T (p.Glu8420Ter)
c.25246G>T (p.Glu8416Ter)
c.25243G>T (p.Glu8415Ter)
c.25240G>T (p.Glu8414Ter)
c.25396G>T (p.Glu8466Ter)
c.25234G>T (p.Glu8412Ter)
c.23674G>T (p.Glu7892Ter)
c.23167G>T (p.Glu7723Ter)
c.18634G>T (p.Glu6212Ter)
c.1900G>T (p.Glu634Ter)
c.25372G>T (p.Glu8458Ter)
c.25321G>T (p.Glu8441Ter)
c.25174G>T (p.Glu8392Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140114C=CA1673206378SYNE1c.1828G= (p.Glu610=)
c.25294G= (p.Glu8432=)
c.25150G= (p.Glu8384=)
c.696G=
c.1029G=
c.938G=
c.1066G= (p.Glu356=)
c.24079G= (p.Glu8027=)
n.2042G=
c.4129G= (p.Glu1377=)
n.8986G=
c.3232G= (p.Glu1078=)
n.8878G=
n.1908G=
n.4316G=
n.2131G=
c.1759G= (p.Glu587=)
c.25399G= (p.Glu8467=)
c.25387G= (p.Glu8463=)
c.25378G= (p.Glu8460=)
c.25348G= (p.Glu8450=)
c.25384G= (p.Glu8462=)
c.25330G= (p.Glu8444=)
c.25327G= (p.Glu8443=)
c.25315G= (p.Glu8439=)
c.25258G= (p.Glu8420=)
c.25246G= (p.Glu8416=)
c.25243G= (p.Glu8415=)
c.25240G= (p.Glu8414=)
c.25396G= (p.Glu8466=)
c.25234G= (p.Glu8412=)
c.23674G= (p.Glu7892=)
c.23167G= (p.Glu7723=)
c.18634G= (p.Glu6212=)
c.1900G= (p.Glu634=)
c.25372G= (p.Glu8458=)
c.25321G= (p.Glu8441=)
c.25174G= (p.Glu8392=)
6g.152140114C>GCA366080785SYNE1c.1828G>C (p.Glu610Gln)
c.25294G>C (p.Glu8432Gln)
c.25150G>C (p.Glu8384Gln)
c.696G>C
c.1029G>C
c.938G>C
c.1066G>C (p.Glu356Gln)
c.24079G>C (p.Glu8027Gln)
n.2042G>C
c.4129G>C (p.Glu1377Gln)
n.8986G>C
c.3232G>C (p.Glu1078Gln)
n.8878G>C
n.1908G>C
n.4316G>C
n.2131G>C
c.1759G>C (p.Glu587Gln)
c.25399G>C (p.Glu8467Gln)
c.25387G>C (p.Glu8463Gln)
c.25378G>C (p.Glu8460Gln)
c.25348G>C (p.Glu8450Gln)
c.25384G>C (p.Glu8462Gln)
c.25330G>C (p.Glu8444Gln)
c.25327G>C (p.Glu8443Gln)
c.25315G>C (p.Glu8439Gln)
c.25258G>C (p.Glu8420Gln)
c.25246G>C (p.Glu8416Gln)
c.25243G>C (p.Glu8415Gln)
c.25240G>C (p.Glu8414Gln)
c.25396G>C (p.Glu8466Gln)
c.25234G>C (p.Glu8412Gln)
c.23674G>C (p.Glu7892Gln)
c.23167G>C (p.Glu7723Gln)
c.18634G>C (p.Glu6212Gln)
c.1900G>C (p.Glu634Gln)
c.25372G>C (p.Glu8458Gln)
c.25321G>C (p.Glu8441Gln)
c.25174G>C (p.Glu8392Gln)
6g.152140114C>TCA366080787SYNE1c.1828G>A (p.Glu610Lys)
c.25294G>A (p.Glu8432Lys)
c.25150G>A (p.Glu8384Lys)
c.696G>A
c.1029G>A
c.938G>A
c.1066G>A (p.Glu356Lys)
c.24079G>A (p.Glu8027Lys)
n.2042G>A
c.4129G>A (p.Glu1377Lys)
n.8986G>A
c.3232G>A (p.Glu1078Lys)
n.8878G>A
n.1908G>A
n.4316G>A
n.2131G>A
c.1759G>A (p.Glu587Lys)
c.25399G>A (p.Glu8467Lys)
c.25387G>A (p.Glu8463Lys)
c.25378G>A (p.Glu8460Lys)
c.25348G>A (p.Glu8450Lys)
c.25384G>A (p.Glu8462Lys)
c.25330G>A (p.Glu8444Lys)
c.25327G>A (p.Glu8443Lys)
c.25315G>A (p.Glu8439Lys)
c.25258G>A (p.Glu8420Lys)
c.25246G>A (p.Glu8416Lys)
c.25243G>A (p.Glu8415Lys)
c.25240G>A (p.Glu8414Lys)
c.25396G>A (p.Glu8466Lys)
c.25234G>A (p.Glu8412Lys)
c.23674G>A (p.Glu7892Lys)
c.23167G>A (p.Glu7723Lys)
c.18634G>A (p.Glu6212Lys)
c.1900G>A (p.Glu634Lys)
c.25372G>A (p.Glu8458Lys)
c.25321G>A (p.Glu8441Lys)
c.25174G>A (p.Glu8392Lys)
6g.152140115C>ACA366080792SYNE1c.1827G>T (p.Lys609Asn)
c.25293G>T (p.Lys8431Asn)
c.25149G>T (p.Lys8383Asn)
c.695G>T
c.1028G>T
c.937G>T
c.1065G>T (p.Lys355Asn)
c.24078G>T (p.Lys8026Asn)
n.2041G>T
c.4128G>T (p.Lys1376Asn)
n.8985G>T
c.3231G>T (p.Lys1077Asn)
n.8877G>T
n.1907G>T
n.4315G>T
n.2130G>T
c.1758G>T (p.Lys586Asn)
c.25398G>T (p.Lys8466Asn)
c.25386G>T (p.Lys8462Asn)
c.25377G>T (p.Lys8459Asn)
c.25347G>T (p.Lys8449Asn)
c.25383G>T (p.Lys8461Asn)
c.25329G>T (p.Lys8443Asn)
c.25326G>T (p.Lys8442Asn)
c.25314G>T (p.Lys8438Asn)
c.25257G>T (p.Lys8419Asn)
c.25245G>T (p.Lys8415Asn)
c.25242G>T (p.Lys8414Asn)
c.25239G>T (p.Lys8413Asn)
c.25395G>T (p.Lys8465Asn)
c.25233G>T (p.Lys8411Asn)
c.23673G>T (p.Lys7891Asn)
c.23166G>T (p.Lys7722Asn)
c.18633G>T (p.Lys6211Asn)
c.1899G>T (p.Lys633Asn)
c.25371G>T (p.Lys8457Asn)
c.25320G>T (p.Lys8440Asn)
c.25173G>T (p.Lys8391Asn)
6g.152140115C>GCA366080789SYNE1c.1827G>C (p.Lys609Asn)
c.25293G>C (p.Lys8431Asn)
c.25149G>C (p.Lys8383Asn)
c.695G>C
c.1028G>C
c.937G>C
c.1065G>C (p.Lys355Asn)
c.24078G>C (p.Lys8026Asn)
n.2041G>C
c.4128G>C (p.Lys1376Asn)
n.8985G>C
c.3231G>C (p.Lys1077Asn)
n.8877G>C
n.1907G>C
n.4315G>C
n.2130G>C
c.1758G>C (p.Lys586Asn)
c.25398G>C (p.Lys8466Asn)
c.25386G>C (p.Lys8462Asn)
c.25377G>C (p.Lys8459Asn)
c.25347G>C (p.Lys8449Asn)
c.25383G>C (p.Lys8461Asn)
c.25329G>C (p.Lys8443Asn)
c.25326G>C (p.Lys8442Asn)
c.25314G>C (p.Lys8438Asn)
c.25257G>C (p.Lys8419Asn)
c.25245G>C (p.Lys8415Asn)
c.25242G>C (p.Lys8414Asn)
c.25239G>C (p.Lys8413Asn)
c.25395G>C (p.Lys8465Asn)
c.25233G>C (p.Lys8411Asn)
c.23673G>C (p.Lys7891Asn)
c.23166G>C (p.Lys7722Asn)
c.18633G>C (p.Lys6211Asn)
c.1899G>C (p.Lys633Asn)
c.25371G>C (p.Lys8457Asn)
c.25320G>C (p.Lys8440Asn)
c.25173G>C (p.Lys8391Asn)
6g.152140115C>TCA452969951SYNE1c.1827G>A (p.Lys609=)
c.25293G>A (p.Lys8431=)
c.25149G>A (p.Lys8383=)
c.695G>A
c.1028G>A
c.937G>A
c.1065G>A (p.Lys355=)
c.24078G>A (p.Lys8026=)
n.2041G>A
c.4128G>A (p.Lys1376=)
n.8985G>A
c.3231G>A (p.Lys1077=)
n.8877G>A
n.1907G>A
n.4315G>A
n.2130G>A
c.1758G>A (p.Lys586=)
c.25398G>A (p.Lys8466=)
c.25386G>A (p.Lys8462=)
c.25377G>A (p.Lys8459=)
c.25347G>A (p.Lys8449=)
c.25383G>A (p.Lys8461=)
c.25329G>A (p.Lys8443=)
c.25326G>A (p.Lys8442=)
c.25314G>A (p.Lys8438=)
c.25257G>A (p.Lys8419=)
c.25245G>A (p.Lys8415=)
c.25242G>A (p.Lys8414=)
c.25239G>A (p.Lys8413=)
c.25395G>A (p.Lys8465=)
c.25233G>A (p.Lys8411=)
c.23673G>A (p.Lys7891=)
c.23166G>A (p.Lys7722=)
c.18633G>A (p.Lys6211=)
c.1899G>A (p.Lys633=)
c.25371G>A (p.Lys8457=)
c.25320G>A (p.Lys8440=)
c.25173G>A (p.Lys8391=)
 gnomAD v4
6g.152140116T>ACA366080795SYNE1c.1826A>T (p.Lys609Met)
c.25292A>T (p.Lys8431Met)
c.25148A>T (p.Lys8383Met)
c.694A>T
c.1027A>T
c.936A>T
c.1064A>T (p.Lys355Met)
c.24077A>T (p.Lys8026Met)
n.2040A>T
c.4127A>T (p.Lys1376Met)
n.8984A>T
c.3230A>T (p.Lys1077Met)
n.8876A>T
n.1906A>T
n.4314A>T
n.2129A>T
c.1757A>T (p.Lys586Met)
c.25397A>T (p.Lys8466Met)
c.25385A>T (p.Lys8462Met)
c.25376A>T (p.Lys8459Met)
c.25346A>T (p.Lys8449Met)
c.25382A>T (p.Lys8461Met)
c.25328A>T (p.Lys8443Met)
c.25325A>T (p.Lys8442Met)
c.25313A>T (p.Lys8438Met)
c.25256A>T (p.Lys8419Met)
c.25244A>T (p.Lys8415Met)
c.25241A>T (p.Lys8414Met)
c.25238A>T (p.Lys8413Met)
c.25394A>T (p.Lys8465Met)
c.25232A>T (p.Lys8411Met)
c.23672A>T (p.Lys7891Met)
c.23165A>T (p.Lys7722Met)
c.18632A>T (p.Lys6211Met)
c.1898A>T (p.Lys633Met)
c.25370A>T (p.Lys8457Met)
c.25319A>T (p.Lys8440Met)
c.25172A>T (p.Lys8391Met)
6g.152140116T>CCA366080799SYNE1c.1826A>G (p.Lys609Arg)
c.25292A>G (p.Lys8431Arg)
c.25148A>G (p.Lys8383Arg)
c.694A>G
c.1027A>G
c.936A>G
c.1064A>G (p.Lys355Arg)
c.24077A>G (p.Lys8026Arg)
n.2040A>G
c.4127A>G (p.Lys1376Arg)
n.8984A>G
c.3230A>G (p.Lys1077Arg)
n.8876A>G
n.1906A>G
n.4314A>G
n.2129A>G
c.1757A>G (p.Lys586Arg)
c.25397A>G (p.Lys8466Arg)
c.25385A>G (p.Lys8462Arg)
c.25376A>G (p.Lys8459Arg)
c.25346A>G (p.Lys8449Arg)
c.25382A>G (p.Lys8461Arg)
c.25328A>G (p.Lys8443Arg)
c.25325A>G (p.Lys8442Arg)
c.25313A>G (p.Lys8438Arg)
c.25256A>G (p.Lys8419Arg)
c.25244A>G (p.Lys8415Arg)
c.25241A>G (p.Lys8414Arg)
c.25238A>G (p.Lys8413Arg)
c.25394A>G (p.Lys8465Arg)
c.25232A>G (p.Lys8411Arg)
c.23672A>G (p.Lys7891Arg)
c.23165A>G (p.Lys7722Arg)
c.18632A>G (p.Lys6211Arg)
c.1898A>G (p.Lys633Arg)
c.25370A>G (p.Lys8457Arg)
c.25319A>G (p.Lys8440Arg)
c.25172A>G (p.Lys8391Arg)
 gnomAD v4
6g.152140116T>GCA366080796SYNE1c.1826A>C (p.Lys609Thr)
c.25292A>C (p.Lys8431Thr)
c.25148A>C (p.Lys8383Thr)
c.694A>C
c.1027A>C
c.936A>C
c.1064A>C (p.Lys355Thr)
c.24077A>C (p.Lys8026Thr)
n.2040A>C
c.4127A>C (p.Lys1376Thr)
n.8984A>C
c.3230A>C (p.Lys1077Thr)
n.8876A>C
n.1906A>C
n.4314A>C
n.2129A>C
c.1757A>C (p.Lys586Thr)
c.25397A>C (p.Lys8466Thr)
c.25385A>C (p.Lys8462Thr)
c.25376A>C (p.Lys8459Thr)
c.25346A>C (p.Lys8449Thr)
c.25382A>C (p.Lys8461Thr)
c.25328A>C (p.Lys8443Thr)
c.25325A>C (p.Lys8442Thr)
c.25313A>C (p.Lys8438Thr)
c.25256A>C (p.Lys8419Thr)
c.25244A>C (p.Lys8415Thr)
c.25241A>C (p.Lys8414Thr)
c.25238A>C (p.Lys8413Thr)
c.25394A>C (p.Lys8465Thr)
c.25232A>C (p.Lys8411Thr)
c.23672A>C (p.Lys7891Thr)
c.23165A>C (p.Lys7722Thr)
c.18632A>C (p.Lys6211Thr)
c.1898A>C (p.Lys633Thr)
c.25370A>C (p.Lys8457Thr)
c.25319A>C (p.Lys8440Thr)
c.25172A>C (p.Lys8391Thr)
6g.152140117T>ACA366080801SYNE1c.1825A>T (p.Lys609Ter)
c.25291A>T (p.Lys8431Ter)
c.25147A>T (p.Lys8383Ter)
c.693A>T
c.1026A>T
c.935A>T
c.1063A>T (p.Lys355Ter)
c.24076A>T (p.Lys8026Ter)
n.2039A>T
c.4126A>T (p.Lys1376Ter)
n.8983A>T
c.3229A>T (p.Lys1077Ter)
n.8875A>T
n.1905A>T
n.4313A>T
n.2128A>T
c.1756A>T (p.Lys586Ter)
c.25396A>T (p.Lys8466Ter)
c.25384A>T (p.Lys8462Ter)
c.25375A>T (p.Lys8459Ter)
c.25345A>T (p.Lys8449Ter)
c.25381A>T (p.Lys8461Ter)
c.25327A>T (p.Lys8443Ter)
c.25324A>T (p.Lys8442Ter)
c.25312A>T (p.Lys8438Ter)
c.25255A>T (p.Lys8419Ter)
c.25243A>T (p.Lys8415Ter)
c.25240A>T (p.Lys8414Ter)
c.25237A>T (p.Lys8413Ter)
c.25393A>T (p.Lys8465Ter)
c.25231A>T (p.Lys8411Ter)
c.23671A>T (p.Lys7891Ter)
c.23164A>T (p.Lys7722Ter)
c.18631A>T (p.Lys6211Ter)
c.1897A>T (p.Lys633Ter)
c.25369A>T (p.Lys8457Ter)
c.25318A>T (p.Lys8440Ter)
c.25171A>T (p.Lys8391Ter)
6g.152140117T>CCA366080807SYNE1c.1825A>G (p.Lys609Glu)
c.25291A>G (p.Lys8431Glu)
c.25147A>G (p.Lys8383Glu)
c.693A>G
c.1026A>G
c.935A>G
c.1063A>G (p.Lys355Glu)
c.24076A>G (p.Lys8026Glu)
n.2039A>G
c.4126A>G (p.Lys1376Glu)
n.8983A>G
c.3229A>G (p.Lys1077Glu)
n.8875A>G
n.1905A>G
n.4313A>G
n.2128A>G
c.1756A>G (p.Lys586Glu)
c.25396A>G (p.Lys8466Glu)
c.25384A>G (p.Lys8462Glu)
c.25375A>G (p.Lys8459Glu)
c.25345A>G (p.Lys8449Glu)
c.25381A>G (p.Lys8461Glu)
c.25327A>G (p.Lys8443Glu)
c.25324A>G (p.Lys8442Glu)
c.25312A>G (p.Lys8438Glu)
c.25255A>G (p.Lys8419Glu)
c.25243A>G (p.Lys8415Glu)
c.25240A>G (p.Lys8414Glu)
c.25237A>G (p.Lys8413Glu)
c.25393A>G (p.Lys8465Glu)
c.25231A>G (p.Lys8411Glu)
c.23671A>G (p.Lys7891Glu)
c.23164A>G (p.Lys7722Glu)
c.18631A>G (p.Lys6211Glu)
c.1897A>G (p.Lys633Glu)
c.25369A>G (p.Lys8457Glu)
c.25318A>G (p.Lys8440Glu)
c.25171A>G (p.Lys8391Glu)
6g.152140117T>GCA366080803SYNE1c.1825A>C (p.Lys609Gln)
c.25291A>C (p.Lys8431Gln)
c.25147A>C (p.Lys8383Gln)
c.693A>C
c.1026A>C
c.935A>C
c.1063A>C (p.Lys355Gln)
c.24076A>C (p.Lys8026Gln)
n.2039A>C
c.4126A>C (p.Lys1376Gln)
n.8983A>C
c.3229A>C (p.Lys1077Gln)
n.8875A>C
n.1905A>C
n.4313A>C
n.2128A>C
c.1756A>C (p.Lys586Gln)
c.25396A>C (p.Lys8466Gln)
c.25384A>C (p.Lys8462Gln)
c.25375A>C (p.Lys8459Gln)
c.25345A>C (p.Lys8449Gln)
c.25381A>C (p.Lys8461Gln)
c.25327A>C (p.Lys8443Gln)
c.25324A>C (p.Lys8442Gln)
c.25312A>C (p.Lys8438Gln)
c.25255A>C (p.Lys8419Gln)
c.25243A>C (p.Lys8415Gln)
c.25240A>C (p.Lys8414Gln)
c.25237A>C (p.Lys8413Gln)
c.25393A>C (p.Lys8465Gln)
c.25231A>C (p.Lys8411Gln)
c.23671A>C (p.Lys7891Gln)
c.23164A>C (p.Lys7722Gln)
c.18631A>C (p.Lys6211Gln)
c.1897A>C (p.Lys633Gln)
c.25369A>C (p.Lys8457Gln)
c.25318A>C (p.Lys8440Gln)
c.25171A>C (p.Lys8391Gln)
6g.152140118G>ACA452969952SYNE1c.1824C>T (p.Ser608=)
c.25290C>T (p.Ser8430=)
c.25146C>T (p.Ser8382=)
c.692C>T
c.1025C>T
c.934C>T
c.1062C>T (p.Ser354=)
c.24075C>T (p.Ser8025=)
n.2038C>T
c.4125C>T (p.Ser1375=)
n.8982C>T
c.3228C>T (p.Ser1076=)
n.8874C>T
n.1904C>T
n.4312C>T
n.2127C>T
c.1755C>T (p.Ser585=)
c.25395C>T (p.Ser8465=)
c.25383C>T (p.Ser8461=)
c.25374C>T (p.Ser8458=)
c.25344C>T (p.Ser8448=)
c.25380C>T (p.Ser8460=)
c.25326C>T (p.Ser8442=)
c.25323C>T (p.Ser8441=)
c.25311C>T (p.Ser8437=)
c.25254C>T (p.Ser8418=)
c.25242C>T (p.Ser8414=)
c.25239C>T (p.Ser8413=)
c.25236C>T (p.Ser8412=)
c.25392C>T (p.Ser8464=)
c.25230C>T (p.Ser8410=)
c.23670C>T (p.Ser7890=)
c.23163C>T (p.Ser7721=)
c.18630C>T (p.Ser6210=)
c.1896C>T (p.Ser632=)
c.25368C>T (p.Ser8456=)
c.25317C>T (p.Ser8439=)
c.25170C>T (p.Ser8390=)
6g.152140118G>CCA366080809SYNE1c.1824C>G (p.Ser608Arg)
c.25290C>G (p.Ser8430Arg)
c.25146C>G (p.Ser8382Arg)
c.692C>G
c.1025C>G
c.934C>G
c.1062C>G (p.Ser354Arg)
c.24075C>G (p.Ser8025Arg)
n.2038C>G
c.4125C>G (p.Ser1375Arg)
n.8982C>G
c.3228C>G (p.Ser1076Arg)
n.8874C>G
n.1904C>G
n.4312C>G
n.2127C>G
c.1755C>G (p.Ser585Arg)
c.25395C>G (p.Ser8465Arg)
c.25383C>G (p.Ser8461Arg)
c.25374C>G (p.Ser8458Arg)
c.25344C>G (p.Ser8448Arg)
c.25380C>G (p.Ser8460Arg)
c.25326C>G (p.Ser8442Arg)
c.25323C>G (p.Ser8441Arg)
c.25311C>G (p.Ser8437Arg)
c.25254C>G (p.Ser8418Arg)
c.25242C>G (p.Ser8414Arg)
c.25239C>G (p.Ser8413Arg)
c.25236C>G (p.Ser8412Arg)
c.25392C>G (p.Ser8464Arg)
c.25230C>G (p.Ser8410Arg)
c.23670C>G (p.Ser7890Arg)
c.23163C>G (p.Ser7721Arg)
c.18630C>G (p.Ser6210Arg)
c.1896C>G (p.Ser632Arg)
c.25368C>G (p.Ser8456Arg)
c.25317C>G (p.Ser8439Arg)
c.25170C>G (p.Ser8390Arg)
 gnomAD v4
6g.152140118G>TCA366080811SYNE1c.1824C>A (p.Ser608Arg)
c.25290C>A (p.Ser8430Arg)
c.25146C>A (p.Ser8382Arg)
c.692C>A
c.1025C>A
c.934C>A
c.1062C>A (p.Ser354Arg)
c.24075C>A (p.Ser8025Arg)
n.2038C>A
c.4125C>A (p.Ser1375Arg)
n.8982C>A
c.3228C>A (p.Ser1076Arg)
n.8874C>A
n.1904C>A
n.4312C>A
n.2127C>A
c.1755C>A (p.Ser585Arg)
c.25395C>A (p.Ser8465Arg)
c.25383C>A (p.Ser8461Arg)
c.25374C>A (p.Ser8458Arg)
c.25344C>A (p.Ser8448Arg)
c.25380C>A (p.Ser8460Arg)
c.25326C>A (p.Ser8442Arg)
c.25323C>A (p.Ser8441Arg)
c.25311C>A (p.Ser8437Arg)
c.25254C>A (p.Ser8418Arg)
c.25242C>A (p.Ser8414Arg)
c.25239C>A (p.Ser8413Arg)
c.25236C>A (p.Ser8412Arg)
c.25392C>A (p.Ser8464Arg)
c.25230C>A (p.Ser8410Arg)
c.23670C>A (p.Ser7890Arg)
c.23163C>A (p.Ser7721Arg)
c.18630C>A (p.Ser6210Arg)
c.1896C>A (p.Ser632Arg)
c.25368C>A (p.Ser8456Arg)
c.25317C>A (p.Ser8439Arg)
c.25170C>A (p.Ser8390Arg)
6g.152140119C>ACA366080814SYNE1c.1823G>T (p.Ser608Ile)
c.25289G>T (p.Ser8430Ile)
c.25145G>T (p.Ser8382Ile)
c.691G>T
c.1024G>T
c.933G>T
c.1061G>T (p.Ser354Ile)
c.24074G>T (p.Ser8025Ile)
n.2037G>T
c.4124G>T (p.Ser1375Ile)
n.8981G>T
c.3227G>T (p.Ser1076Ile)
n.8873G>T
n.1903G>T
n.4311G>T
n.2126G>T
c.1754G>T (p.Ser585Ile)
c.25394G>T (p.Ser8465Ile)
c.25382G>T (p.Ser8461Ile)
c.25373G>T (p.Ser8458Ile)
c.25343G>T (p.Ser8448Ile)
c.25379G>T (p.Ser8460Ile)
c.25325G>T (p.Ser8442Ile)
c.25322G>T (p.Ser8441Ile)
c.25310G>T (p.Ser8437Ile)
c.25253G>T (p.Ser8418Ile)
c.25241G>T (p.Ser8414Ile)
c.25238G>T (p.Ser8413Ile)
c.25235G>T (p.Ser8412Ile)
c.25391G>T (p.Ser8464Ile)
c.25229G>T (p.Ser8410Ile)
c.23669G>T (p.Ser7890Ile)
c.23162G>T (p.Ser7721Ile)
c.18629G>T (p.Ser6210Ile)
c.1895G>T (p.Ser632Ile)
c.25367G>T (p.Ser8456Ile)
c.25316G>T (p.Ser8439Ile)
c.25169G>T (p.Ser8390Ile)
6g.152140119C>GCA366080818SYNE1c.1823G>C (p.Ser608Thr)
c.25289G>C (p.Ser8430Thr)
c.25145G>C (p.Ser8382Thr)
c.691G>C
c.1024G>C
c.933G>C
c.1061G>C (p.Ser354Thr)
c.24074G>C (p.Ser8025Thr)
n.2037G>C
c.4124G>C (p.Ser1375Thr)
n.8981G>C
c.3227G>C (p.Ser1076Thr)
n.8873G>C
n.1903G>C
n.4311G>C
n.2126G>C
c.1754G>C (p.Ser585Thr)
c.25394G>C (p.Ser8465Thr)
c.25382G>C (p.Ser8461Thr)
c.25373G>C (p.Ser8458Thr)
c.25343G>C (p.Ser8448Thr)
c.25379G>C (p.Ser8460Thr)
c.25325G>C (p.Ser8442Thr)
c.25322G>C (p.Ser8441Thr)
c.25310G>C (p.Ser8437Thr)
c.25253G>C (p.Ser8418Thr)
c.25241G>C (p.Ser8414Thr)
c.25238G>C (p.Ser8413Thr)
c.25235G>C (p.Ser8412Thr)
c.25391G>C (p.Ser8464Thr)
c.25229G>C (p.Ser8410Thr)
c.23669G>C (p.Ser7890Thr)
c.23162G>C (p.Ser7721Thr)
c.18629G>C (p.Ser6210Thr)
c.1895G>C (p.Ser632Thr)
c.25367G>C (p.Ser8456Thr)
c.25316G>C (p.Ser8439Thr)
c.25169G>C (p.Ser8390Thr)
6g.152140119C>TCA366080821SYNE1c.1823G>A (p.Ser608Asn)
c.25289G>A (p.Ser8430Asn)
c.25145G>A (p.Ser8382Asn)
c.691G>A
c.1024G>A
c.933G>A
c.1061G>A (p.Ser354Asn)
c.24074G>A (p.Ser8025Asn)
n.2037G>A
c.4124G>A (p.Ser1375Asn)
n.8981G>A
c.3227G>A (p.Ser1076Asn)
n.8873G>A
n.1903G>A
n.4311G>A
n.2126G>A
c.1754G>A (p.Ser585Asn)
c.25394G>A (p.Ser8465Asn)
c.25382G>A (p.Ser8461Asn)
c.25373G>A (p.Ser8458Asn)
c.25343G>A (p.Ser8448Asn)
c.25379G>A (p.Ser8460Asn)
c.25325G>A (p.Ser8442Asn)
c.25322G>A (p.Ser8441Asn)
c.25310G>A (p.Ser8437Asn)
c.25253G>A (p.Ser8418Asn)
c.25241G>A (p.Ser8414Asn)
c.25238G>A (p.Ser8413Asn)
c.25235G>A (p.Ser8412Asn)
c.25391G>A (p.Ser8464Asn)
c.25229G>A (p.Ser8410Asn)
c.23669G>A (p.Ser7890Asn)
c.23162G>A (p.Ser7721Asn)
c.18629G>A (p.Ser6210Asn)
c.1895G>A (p.Ser632Asn)
c.25367G>A (p.Ser8456Asn)
c.25316G>A (p.Ser8439Asn)
c.25169G>A (p.Ser8390Asn)
 gnomAD v4
6g.152140120T>ACA366080824SYNE1c.1822A>T (p.Ser608Cys)
c.25288A>T (p.Ser8430Cys)
c.25144A>T (p.Ser8382Cys)
c.690A>T
c.1023A>T
c.932A>T
c.1060A>T (p.Ser354Cys)
c.24073A>T (p.Ser8025Cys)
n.2036A>T
c.4123A>T (p.Ser1375Cys)
n.8980A>T
c.3226A>T (p.Ser1076Cys)
n.8872A>T
n.1902A>T
n.4310A>T
n.2125A>T
c.1753A>T (p.Ser585Cys)
c.25393A>T (p.Ser8465Cys)
c.25381A>T (p.Ser8461Cys)
c.25372A>T (p.Ser8458Cys)
c.25342A>T (p.Ser8448Cys)
c.25378A>T (p.Ser8460Cys)
c.25324A>T (p.Ser8442Cys)
c.25321A>T (p.Ser8441Cys)
c.25309A>T (p.Ser8437Cys)
c.25252A>T (p.Ser8418Cys)
c.25240A>T (p.Ser8414Cys)
c.25237A>T (p.Ser8413Cys)
c.25234A>T (p.Ser8412Cys)
c.25390A>T (p.Ser8464Cys)
c.25228A>T (p.Ser8410Cys)
c.23668A>T (p.Ser7890Cys)
c.23161A>T (p.Ser7721Cys)
c.18628A>T (p.Ser6210Cys)
c.1894A>T (p.Ser632Cys)
c.25366A>T (p.Ser8456Cys)
c.25315A>T (p.Ser8439Cys)
c.25168A>T (p.Ser8390Cys)
6g.152140120T>CCA366080827SYNE1c.1822A>G (p.Ser608Gly)
c.25288A>G (p.Ser8430Gly)
c.25144A>G (p.Ser8382Gly)
c.690A>G
c.1023A>G
c.932A>G
c.1060A>G (p.Ser354Gly)
c.24073A>G (p.Ser8025Gly)
n.2036A>G
c.4123A>G (p.Ser1375Gly)
n.8980A>G
c.3226A>G (p.Ser1076Gly)
n.8872A>G
n.1902A>G
n.4310A>G
n.2125A>G
c.1753A>G (p.Ser585Gly)
c.25393A>G (p.Ser8465Gly)
c.25381A>G (p.Ser8461Gly)
c.25372A>G (p.Ser8458Gly)
c.25342A>G (p.Ser8448Gly)
c.25378A>G (p.Ser8460Gly)
c.25324A>G (p.Ser8442Gly)
c.25321A>G (p.Ser8441Gly)
c.25309A>G (p.Ser8437Gly)
c.25252A>G (p.Ser8418Gly)
c.25240A>G (p.Ser8414Gly)
c.25237A>G (p.Ser8413Gly)
c.25234A>G (p.Ser8412Gly)
c.25390A>G (p.Ser8464Gly)
c.25228A>G (p.Ser8410Gly)
c.23668A>G (p.Ser7890Gly)
c.23161A>G (p.Ser7721Gly)
c.18628A>G (p.Ser6210Gly)
c.1894A>G (p.Ser632Gly)
c.25366A>G (p.Ser8456Gly)
c.25315A>G (p.Ser8439Gly)
c.25168A>G (p.Ser8390Gly)
 dbSNP
6g.152140120T>GCA366080829SYNE1c.1822A>C (p.Ser608Arg)
c.25288A>C (p.Ser8430Arg)
c.25144A>C (p.Ser8382Arg)
c.690A>C
c.1023A>C
c.932A>C
c.1060A>C (p.Ser354Arg)
c.24073A>C (p.Ser8025Arg)
n.2036A>C
c.4123A>C (p.Ser1375Arg)
n.8980A>C
c.3226A>C (p.Ser1076Arg)
n.8872A>C
n.1902A>C
n.4310A>C
n.2125A>C
c.1753A>C (p.Ser585Arg)
c.25393A>C (p.Ser8465Arg)
c.25381A>C (p.Ser8461Arg)
c.25372A>C (p.Ser8458Arg)
c.25342A>C (p.Ser8448Arg)
c.25378A>C (p.Ser8460Arg)
c.25324A>C (p.Ser8442Arg)
c.25321A>C (p.Ser8441Arg)
c.25309A>C (p.Ser8437Arg)
c.25252A>C (p.Ser8418Arg)
c.25240A>C (p.Ser8414Arg)
c.25237A>C (p.Ser8413Arg)
c.25234A>C (p.Ser8412Arg)
c.25390A>C (p.Ser8464Arg)
c.25228A>C (p.Ser8410Arg)
c.23668A>C (p.Ser7890Arg)
c.23161A>C (p.Ser7721Arg)
c.18628A>C (p.Ser6210Arg)
c.1894A>C (p.Ser632Arg)
c.25366A>C (p.Ser8456Arg)
c.25315A>C (p.Ser8439Arg)
c.25168A>C (p.Ser8390Arg)
6g.152140120T=CA1673206384SYNE1c.1822A= (p.Ser608=)
c.25288A= (p.Ser8430=)
c.25144A= (p.Ser8382=)
c.690A=
c.1023A=
c.932A=
c.1060A= (p.Ser354=)
c.24073A= (p.Ser8025=)
n.2036A=
c.4123A= (p.Ser1375=)
n.8980A=
c.3226A= (p.Ser1076=)
n.8872A=
n.1902A=
n.4310A=
n.2125A=
c.1753A= (p.Ser585=)
c.25393A= (p.Ser8465=)
c.25381A= (p.Ser8461=)
c.25372A= (p.Ser8458=)
c.25342A= (p.Ser8448=)
c.25378A= (p.Ser8460=)
c.25324A= (p.Ser8442=)
c.25321A= (p.Ser8441=)
c.25309A= (p.Ser8437=)
c.25252A= (p.Ser8418=)
c.25240A= (p.Ser8414=)
c.25237A= (p.Ser8413=)
c.25234A= (p.Ser8412=)
c.25390A= (p.Ser8464=)
c.25228A= (p.Ser8410=)
c.23668A= (p.Ser7890=)
c.23161A= (p.Ser7721=)
c.18628A= (p.Ser6210=)
c.1894A= (p.Ser632=)
c.25366A= (p.Ser8456=)
c.25315A= (p.Ser8439=)
c.25168A= (p.Ser8390=)
6g.152140121C>ACA366080831SYNE1c.1821G>T (p.Leu607Phe)
c.25287G>T (p.Leu8429Phe)
c.25143G>T (p.Leu8381Phe)
c.689G>T
c.1022G>T
c.931G>T
c.1059G>T (p.Leu353Phe)
c.24072G>T (p.Leu8024Phe)
n.2035G>T
c.4122G>T (p.Leu1374Phe)
n.8979G>T
c.3225G>T (p.Leu1075Phe)
n.8871G>T
n.1901G>T
n.4309G>T
n.2124G>T
c.1752G>T (p.Leu584Phe)
c.25392G>T (p.Leu8464Phe)
c.25380G>T (p.Leu8460Phe)
c.25371G>T (p.Leu8457Phe)
c.25341G>T (p.Leu8447Phe)
c.25377G>T (p.Leu8459Phe)
c.25323G>T (p.Leu8441Phe)
c.25320G>T (p.Leu8440Phe)
c.25308G>T (p.Leu8436Phe)
c.25251G>T (p.Leu8417Phe)
c.25239G>T (p.Leu8413Phe)
c.25236G>T (p.Leu8412Phe)
c.25233G>T (p.Leu8411Phe)
c.25389G>T (p.Leu8463Phe)
c.25227G>T (p.Leu8409Phe)
c.23667G>T (p.Leu7889Phe)
c.23160G>T (p.Leu7720Phe)
c.18627G>T (p.Leu6209Phe)
c.1893G>T (p.Leu631Phe)
c.25365G>T (p.Leu8455Phe)
c.25314G>T (p.Leu8438Phe)
c.25167G>T (p.Leu8389Phe)
6g.152140121C=CA1673206390SYNE1c.1821G= (p.Leu607=)
c.25287G= (p.Leu8429=)
c.25143G= (p.Leu8381=)
c.689G=
c.1022G=
c.931G=
c.1059G= (p.Leu353=)
c.24072G= (p.Leu8024=)
n.2035G=
c.4122G= (p.Leu1374=)
n.8979G=
c.3225G= (p.Leu1075=)
n.8871G=
n.1901G=
n.4309G=
n.2124G=
c.1752G= (p.Leu584=)
c.25392G= (p.Leu8464=)
c.25380G= (p.Leu8460=)
c.25371G= (p.Leu8457=)
c.25341G= (p.Leu8447=)
c.25377G= (p.Leu8459=)
c.25323G= (p.Leu8441=)
c.25320G= (p.Leu8440=)
c.25308G= (p.Leu8436=)
c.25251G= (p.Leu8417=)
c.25239G= (p.Leu8413=)
c.25236G= (p.Leu8412=)
c.25233G= (p.Leu8411=)
c.25389G= (p.Leu8463=)
c.25227G= (p.Leu8409=)
c.23667G= (p.Leu7889=)
c.23160G= (p.Leu7720=)
c.18627G= (p.Leu6209=)
c.1893G= (p.Leu631=)
c.25365G= (p.Leu8455=)
c.25314G= (p.Leu8438=)
c.25167G= (p.Leu8389=)
6g.152140121C>GCA366080833SYNE1c.1821G>C (p.Leu607Phe)
c.25287G>C (p.Leu8429Phe)
c.25143G>C (p.Leu8381Phe)
c.689G>C
c.1022G>C
c.931G>C
c.1059G>C (p.Leu353Phe)
c.24072G>C (p.Leu8024Phe)
n.2035G>C
c.4122G>C (p.Leu1374Phe)
n.8979G>C
c.3225G>C (p.Leu1075Phe)
n.8871G>C
n.1901G>C
n.4309G>C
n.2124G>C
c.1752G>C (p.Leu584Phe)
c.25392G>C (p.Leu8464Phe)
c.25380G>C (p.Leu8460Phe)
c.25371G>C (p.Leu8457Phe)
c.25341G>C (p.Leu8447Phe)
c.25377G>C (p.Leu8459Phe)
c.25323G>C (p.Leu8441Phe)
c.25320G>C (p.Leu8440Phe)
c.25308G>C (p.Leu8436Phe)
c.25251G>C (p.Leu8417Phe)
c.25239G>C (p.Leu8413Phe)
c.25236G>C (p.Leu8412Phe)
c.25233G>C (p.Leu8411Phe)
c.25389G>C (p.Leu8463Phe)
c.25227G>C (p.Leu8409Phe)
c.23667G>C (p.Leu7889Phe)
c.23160G>C (p.Leu7720Phe)
c.18627G>C (p.Leu6209Phe)
c.1893G>C (p.Leu631Phe)
c.25365G>C (p.Leu8455Phe)
c.25314G>C (p.Leu8438Phe)
c.25167G>C (p.Leu8389Phe)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140121C>TCA452969954SYNE1c.1821G>A (p.Leu607=)
c.25287G>A (p.Leu8429=)
c.25143G>A (p.Leu8381=)
c.689G>A
c.1022G>A
c.931G>A
c.1059G>A (p.Leu353=)
c.24072G>A (p.Leu8024=)
n.2035G>A
c.4122G>A (p.Leu1374=)
n.8979G>A
c.3225G>A (p.Leu1075=)
n.8871G>A
n.1901G>A
n.4309G>A
n.2124G>A
c.1752G>A (p.Leu584=)
c.25392G>A (p.Leu8464=)
c.25380G>A (p.Leu8460=)
c.25371G>A (p.Leu8457=)
c.25341G>A (p.Leu8447=)
c.25377G>A (p.Leu8459=)
c.25323G>A (p.Leu8441=)
c.25320G>A (p.Leu8440=)
c.25308G>A (p.Leu8436=)
c.25251G>A (p.Leu8417=)
c.25239G>A (p.Leu8413=)
c.25236G>A (p.Leu8412=)
c.25233G>A (p.Leu8411=)
c.25389G>A (p.Leu8463=)
c.25227G>A (p.Leu8409=)
c.23667G>A (p.Leu7889=)
c.23160G>A (p.Leu7720=)
c.18627G>A (p.Leu6209=)
c.1893G>A (p.Leu631=)
c.25365G>A (p.Leu8455=)
c.25314G>A (p.Leu8438=)
c.25167G>A (p.Leu8389=)
 dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140122A=CA1673206393SYNE1c.1820T= (p.Leu607=)
c.25286T= (p.Leu8429=)
c.25142T= (p.Leu8381=)
c.688T=
c.1021T=
c.930T=
c.1058T= (p.Leu353=)
c.24071T= (p.Leu8024=)
n.2034T=
c.4121T= (p.Leu1374=)
n.8978T=
c.3224T= (p.Leu1075=)
n.8870T=
n.1900T=
n.4308T=
n.2123T=
c.1751T= (p.Leu584=)
c.25391T= (p.Leu8464=)
c.25379T= (p.Leu8460=)
c.25370T= (p.Leu8457=)
c.25340T= (p.Leu8447=)
c.25376T= (p.Leu8459=)
c.25322T= (p.Leu8441=)
c.25319T= (p.Leu8440=)
c.25307T= (p.Leu8436=)
c.25250T= (p.Leu8417=)
c.25238T= (p.Leu8413=)
c.25235T= (p.Leu8412=)
c.25232T= (p.Leu8411=)
c.25388T= (p.Leu8463=)
c.25226T= (p.Leu8409=)
c.23666T= (p.Leu7889=)
c.23159T= (p.Leu7720=)
c.18626T= (p.Leu6209=)
c.1892T= (p.Leu631=)
c.25364T= (p.Leu8455=)
c.25313T= (p.Leu8438=)
c.25166T= (p.Leu8389=)
6g.152140122A>CCA366080836SYNE1c.1820T>G (p.Leu607Trp)
c.25286T>G (p.Leu8429Trp)
c.25142T>G (p.Leu8381Trp)
c.688T>G
c.1021T>G
c.930T>G
c.1058T>G (p.Leu353Trp)
c.24071T>G (p.Leu8024Trp)
n.2034T>G
c.4121T>G (p.Leu1374Trp)
n.8978T>G
c.3224T>G (p.Leu1075Trp)
n.8870T>G
n.1900T>G
n.4308T>G
n.2123T>G
c.1751T>G (p.Leu584Trp)
c.25391T>G (p.Leu8464Trp)
c.25379T>G (p.Leu8460Trp)
c.25370T>G (p.Leu8457Trp)
c.25340T>G (p.Leu8447Trp)
c.25376T>G (p.Leu8459Trp)
c.25322T>G (p.Leu8441Trp)
c.25319T>G (p.Leu8440Trp)
c.25307T>G (p.Leu8436Trp)
c.25250T>G (p.Leu8417Trp)
c.25238T>G (p.Leu8413Trp)
c.25235T>G (p.Leu8412Trp)
c.25232T>G (p.Leu8411Trp)
c.25388T>G (p.Leu8463Trp)
c.25226T>G (p.Leu8409Trp)
c.23666T>G (p.Leu7889Trp)
c.23159T>G (p.Leu7720Trp)
c.18626T>G (p.Leu6209Trp)
c.1892T>G (p.Leu631Trp)
c.25364T>G (p.Leu8455Trp)
c.25313T>G (p.Leu8438Trp)
c.25166T>G (p.Leu8389Trp)
6g.152140122A>GCA366080838SYNE1c.1820T>C (p.Leu607Ser)
c.25286T>C (p.Leu8429Ser)
c.25142T>C (p.Leu8381Ser)
c.688T>C
c.1021T>C
c.930T>C
c.1058T>C (p.Leu353Ser)
c.24071T>C (p.Leu8024Ser)
n.2034T>C
c.4121T>C (p.Leu1374Ser)
n.8978T>C
c.3224T>C (p.Leu1075Ser)
n.8870T>C
n.1900T>C
n.4308T>C
n.2123T>C
c.1751T>C (p.Leu584Ser)
c.25391T>C (p.Leu8464Ser)
c.25379T>C (p.Leu8460Ser)
c.25370T>C (p.Leu8457Ser)
c.25340T>C (p.Leu8447Ser)
c.25376T>C (p.Leu8459Ser)
c.25322T>C (p.Leu8441Ser)
c.25319T>C (p.Leu8440Ser)
c.25307T>C (p.Leu8436Ser)
c.25250T>C (p.Leu8417Ser)
c.25238T>C (p.Leu8413Ser)
c.25235T>C (p.Leu8412Ser)
c.25232T>C (p.Leu8411Ser)
c.25388T>C (p.Leu8463Ser)
c.25226T>C (p.Leu8409Ser)
c.23666T>C (p.Leu7889Ser)
c.23159T>C (p.Leu7720Ser)
c.18626T>C (p.Leu6209Ser)
c.1892T>C (p.Leu631Ser)
c.25364T>C (p.Leu8455Ser)
c.25313T>C (p.Leu8438Ser)
c.25166T>C (p.Leu8389Ser)
6g.152140122A>TCA366080840SYNE1c.1820T>A (p.Leu607Ter)
c.25286T>A (p.Leu8429Ter)
c.25142T>A (p.Leu8381Ter)
c.688T>A
c.1021T>A
c.930T>A
c.1058T>A (p.Leu353Ter)
c.24071T>A (p.Leu8024Ter)
n.2034T>A
c.4121T>A (p.Leu1374Ter)
n.8978T>A
c.3224T>A (p.Leu1075Ter)
n.8870T>A
n.1900T>A
n.4308T>A
n.2123T>A
c.1751T>A (p.Leu584Ter)
c.25391T>A (p.Leu8464Ter)
c.25379T>A (p.Leu8460Ter)
c.25370T>A (p.Leu8457Ter)
c.25340T>A (p.Leu8447Ter)
c.25376T>A (p.Leu8459Ter)
c.25322T>A (p.Leu8441Ter)
c.25319T>A (p.Leu8440Ter)
c.25307T>A (p.Leu8436Ter)
c.25250T>A (p.Leu8417Ter)
c.25238T>A (p.Leu8413Ter)
c.25235T>A (p.Leu8412Ter)
c.25232T>A (p.Leu8411Ter)
c.25388T>A (p.Leu8463Ter)
c.25226T>A (p.Leu8409Ter)
c.23666T>A (p.Leu7889Ter)
c.23159T>A (p.Leu7720Ter)
c.18626T>A (p.Leu6209Ter)
c.1892T>A (p.Leu631Ter)
c.25364T>A (p.Leu8455Ter)
c.25313T>A (p.Leu8438Ter)
c.25166T>A (p.Leu8389Ter)
6g.152140123A>CCA366080842SYNE1c.1819T>G (p.Leu607Val)
c.25285T>G (p.Leu8429Val)
c.25141T>G (p.Leu8381Val)
c.687T>G
c.1020T>G
c.929T>G
c.1057T>G (p.Leu353Val)
c.24070T>G (p.Leu8024Val)
n.2033T>G
c.4120T>G (p.Leu1374Val)
n.8977T>G
c.3223T>G (p.Leu1075Val)
n.8869T>G
n.1899T>G
n.4307T>G
n.2122T>G
c.1750T>G (p.Leu584Val)
c.25390T>G (p.Leu8464Val)
c.25378T>G (p.Leu8460Val)
c.25369T>G (p.Leu8457Val)
c.25339T>G (p.Leu8447Val)
c.25375T>G (p.Leu8459Val)
c.25321T>G (p.Leu8441Val)
c.25318T>G (p.Leu8440Val)
c.25306T>G (p.Leu8436Val)
c.25249T>G (p.Leu8417Val)
c.25237T>G (p.Leu8413Val)
c.25234T>G (p.Leu8412Val)
c.25231T>G (p.Leu8411Val)
c.25387T>G (p.Leu8463Val)
c.25225T>G (p.Leu8409Val)
c.23665T>G (p.Leu7889Val)
c.23158T>G (p.Leu7720Val)
c.18625T>G (p.Leu6209Val)
c.1891T>G (p.Leu631Val)
c.25363T>G (p.Leu8455Val)
c.25312T>G (p.Leu8438Val)
c.25165T>G (p.Leu8389Val)
6g.152140123A>GCA452969955SYNE1c.1819T>C (p.Leu607=)
c.25285T>C (p.Leu8429=)
c.25141T>C (p.Leu8381=)
c.687T>C
c.1020T>C
c.929T>C
c.1057T>C (p.Leu353=)
c.24070T>C (p.Leu8024=)
n.2033T>C
c.4120T>C (p.Leu1374=)
n.8977T>C
c.3223T>C (p.Leu1075=)
n.8869T>C
n.1899T>C
n.4307T>C
n.2122T>C
c.1750T>C (p.Leu584=)
c.25390T>C (p.Leu8464=)
c.25378T>C (p.Leu8460=)
c.25369T>C (p.Leu8457=)
c.25339T>C (p.Leu8447=)
c.25375T>C (p.Leu8459=)
c.25321T>C (p.Leu8441=)
c.25318T>C (p.Leu8440=)
c.25306T>C (p.Leu8436=)
c.25249T>C (p.Leu8417=)
c.25237T>C (p.Leu8413=)
c.25234T>C (p.Leu8412=)
c.25231T>C (p.Leu8411=)
c.25387T>C (p.Leu8463=)
c.25225T>C (p.Leu8409=)
c.23665T>C (p.Leu7889=)
c.23158T>C (p.Leu7720=)
c.18625T>C (p.Leu6209=)
c.1891T>C (p.Leu631=)
c.25363T>C (p.Leu8455=)
c.25312T>C (p.Leu8438=)
c.25165T>C (p.Leu8389=)
6g.152140123A>TCA366080845SYNE1c.1819T>A (p.Leu607Met)
c.25285T>A (p.Leu8429Met)
c.25141T>A (p.Leu8381Met)
c.687T>A
c.1020T>A
c.929T>A
c.1057T>A (p.Leu353Met)
c.24070T>A (p.Leu8024Met)
n.2033T>A
c.4120T>A (p.Leu1374Met)
n.8977T>A
c.3223T>A (p.Leu1075Met)
n.8869T>A
n.1899T>A
n.4307T>A
n.2122T>A
c.1750T>A (p.Leu584Met)
c.25390T>A (p.Leu8464Met)
c.25378T>A (p.Leu8460Met)
c.25369T>A (p.Leu8457Met)
c.25339T>A (p.Leu8447Met)
c.25375T>A (p.Leu8459Met)
c.25321T>A (p.Leu8441Met)
c.25318T>A (p.Leu8440Met)
c.25306T>A (p.Leu8436Met)
c.25249T>A (p.Leu8417Met)
c.25237T>A (p.Leu8413Met)
c.25234T>A (p.Leu8412Met)
c.25231T>A (p.Leu8411Met)
c.25387T>A (p.Leu8463Met)
c.25225T>A (p.Leu8409Met)
c.23665T>A (p.Leu7889Met)
c.23158T>A (p.Leu7720Met)
c.18625T>A (p.Leu6209Met)
c.1891T>A (p.Leu631Met)
c.25363T>A (p.Leu8455Met)
c.25312T>A (p.Leu8438Met)
c.25165T>A (p.Leu8389Met)
6g.152140123_152140129dupCA1673206397SYNE1c.1813_1819dup (p.Leu607SerfsTer20)
c.25279_25285dup (p.Leu8429SerfsTer20)
c.25135_25141dup (p.Leu8381SerfsTer20)
c.681_687dup
c.1014_1020dup
c.923_929dup
c.1051_1057dup (p.Leu353SerfsTer20)
c.24064_24070dup (p.Leu8024SerfsTer20)
n.2027_2033dup
c.4114_4120dup (p.Leu1374SerfsTer20)
n.8971_8977dup
c.3217_3223dup (p.Leu1075SerfsTer20)
n.8863_8869dup
n.1893_1899dup
n.4301_4307dup
n.2116_2122dup
c.1744_1750dup (p.Leu584SerfsTer20)
c.25384_25390dup (p.Leu8464SerfsTer20)
c.25372_25378dup (p.Leu8460SerfsTer20)
c.25363_25369dup (p.Leu8457SerfsTer20)
c.25333_25339dup (p.Leu8447SerfsTer20)
c.25369_25375dup (p.Leu8459SerfsTer20)
c.25315_25321dup (p.Leu8441SerfsTer20)
c.25312_25318dup (p.Leu8440SerfsTer20)
c.25300_25306dup (p.Leu8436SerfsTer20)
c.25243_25249dup (p.Leu8417SerfsTer20)
c.25231_25237dup (p.Leu8413SerfsTer20)
c.25228_25234dup (p.Leu8412SerfsTer20)
c.25225_25231dup (p.Leu8411SerfsTer20)
c.25381_25387dup (p.Leu8463SerfsTer20)
c.25219_25225dup (p.Leu8409SerfsTer20)
c.23659_23665dup (p.Leu7889SerfsTer20)
c.23152_23158dup (p.Leu7720SerfsTer20)
c.18619_18625dup (p.Leu6209SerfsTer20)
c.1885_1891dup (p.Leu631SerfsTer20)
c.25357_25363dup (p.Leu8455SerfsTer20)
c.25306_25312dup (p.Leu8438SerfsTer20)
c.25159_25165dup (p.Leu8389SerfsTer20)
 dbSNP
6g.152140124T>ACA452969957SYNE1c.1818A>T (p.Ala606=)
c.25284A>T (p.Ala8428=)
c.25140A>T (p.Ala8380=)
c.686A>T
c.1019A>T
c.928A>T
c.1056A>T (p.Ala352=)
c.24069A>T (p.Ala8023=)
n.2032A>T
c.4119A>T (p.Ala1373=)
n.8976A>T
c.3222A>T (p.Ala1074=)
n.8868A>T
n.1898A>T
n.4306A>T
n.2121A>T
c.1749A>T (p.Ala583=)
c.25389A>T (p.Ala8463=)
c.25377A>T (p.Ala8459=)
c.25368A>T (p.Ala8456=)
c.25338A>T (p.Ala8446=)
c.25374A>T (p.Ala8458=)
c.25320A>T (p.Ala8440=)
c.25317A>T (p.Ala8439=)
c.25305A>T (p.Ala8435=)
c.25248A>T (p.Ala8416=)
c.25236A>T (p.Ala8412=)
c.25233A>T (p.Ala8411=)
c.25230A>T (p.Ala8410=)
c.25386A>T (p.Ala8462=)
c.25224A>T (p.Ala8408=)
c.23664A>T (p.Ala7888=)
c.23157A>T (p.Ala7719=)
c.18624A>T (p.Ala6208=)
c.1890A>T (p.Ala630=)
c.25362A>T (p.Ala8454=)
c.25311A>T (p.Ala8437=)
c.25164A>T (p.Ala8388=)
6g.152140124T>CCA452969958SYNE1c.1818A>G (p.Ala606=)
c.25284A>G (p.Ala8428=)
c.25140A>G (p.Ala8380=)
c.686A>G
c.1019A>G
c.928A>G
c.1056A>G (p.Ala352=)
c.24069A>G (p.Ala8023=)
n.2032A>G
c.4119A>G (p.Ala1373=)
n.8976A>G
c.3222A>G (p.Ala1074=)
n.8868A>G
n.1898A>G
n.4306A>G
n.2121A>G
c.1749A>G (p.Ala583=)
c.25389A>G (p.Ala8463=)
c.25377A>G (p.Ala8459=)
c.25368A>G (p.Ala8456=)
c.25338A>G (p.Ala8446=)
c.25374A>G (p.Ala8458=)
c.25320A>G (p.Ala8440=)
c.25317A>G (p.Ala8439=)
c.25305A>G (p.Ala8435=)
c.25248A>G (p.Ala8416=)
c.25236A>G (p.Ala8412=)
c.25233A>G (p.Ala8411=)
c.25230A>G (p.Ala8410=)
c.25386A>G (p.Ala8462=)
c.25224A>G (p.Ala8408=)
c.23664A>G (p.Ala7888=)
c.23157A>G (p.Ala7719=)
c.18624A>G (p.Ala6208=)
c.1890A>G (p.Ala630=)
c.25362A>G (p.Ala8454=)
c.25311A>G (p.Ala8437=)
c.25164A>G (p.Ala8388=)
 gnomAD v4
6g.152140124T>GCA452969956SYNE1c.1818A>C (p.Ala606=)
c.25284A>C (p.Ala8428=)
c.25140A>C (p.Ala8380=)
c.686A>C
c.1019A>C
c.928A>C
c.1056A>C (p.Ala352=)
c.24069A>C (p.Ala8023=)
n.2032A>C
c.4119A>C (p.Ala1373=)
n.8976A>C
c.3222A>C (p.Ala1074=)
n.8868A>C
n.1898A>C
n.4306A>C
n.2121A>C
c.1749A>C (p.Ala583=)
c.25389A>C (p.Ala8463=)
c.25377A>C (p.Ala8459=)
c.25368A>C (p.Ala8456=)
c.25338A>C (p.Ala8446=)
c.25374A>C (p.Ala8458=)
c.25320A>C (p.Ala8440=)
c.25317A>C (p.Ala8439=)
c.25305A>C (p.Ala8435=)
c.25248A>C (p.Ala8416=)
c.25236A>C (p.Ala8412=)
c.25233A>C (p.Ala8411=)
c.25230A>C (p.Ala8410=)
c.25386A>C (p.Ala8462=)
c.25224A>C (p.Ala8408=)
c.23664A>C (p.Ala7888=)
c.23157A>C (p.Ala7719=)
c.18624A>C (p.Ala6208=)
c.1890A>C (p.Ala630=)
c.25362A>C (p.Ala8454=)
c.25311A>C (p.Ala8437=)
c.25164A>C (p.Ala8388=)
6g.152140125G>ACA366080849SYNE1c.1817C>T (p.Ala606Val)
c.25283C>T (p.Ala8428Val)
c.25139C>T (p.Ala8380Val)
c.685C>T
c.1018C>T
c.927C>T
c.1055C>T (p.Ala352Val)
c.24068C>T (p.Ala8023Val)
n.2031C>T
c.4118C>T (p.Ala1373Val)
n.8975C>T
c.3221C>T (p.Ala1074Val)
n.8867C>T
n.1897C>T
n.4305C>T
n.2120C>T
c.1748C>T (p.Ala583Val)
c.25388C>T (p.Ala8463Val)
c.25376C>T (p.Ala8459Val)
c.25367C>T (p.Ala8456Val)
c.25337C>T (p.Ala8446Val)
c.25373C>T (p.Ala8458Val)
c.25319C>T (p.Ala8440Val)
c.25316C>T (p.Ala8439Val)
c.25304C>T (p.Ala8435Val)
c.25247C>T (p.Ala8416Val)
c.25235C>T (p.Ala8412Val)
c.25232C>T (p.Ala8411Val)
c.25229C>T (p.Ala8410Val)
c.25385C>T (p.Ala8462Val)
c.25223C>T (p.Ala8408Val)
c.23663C>T (p.Ala7888Val)
c.23156C>T (p.Ala7719Val)
c.18623C>T (p.Ala6208Val)
c.1889C>T (p.Ala630Val)
c.25361C>T (p.Ala8454Val)
c.25310C>T (p.Ala8437Val)
c.25163C>T (p.Ala8388Val)
6g.152140125G>CCA366080852SYNE1c.1817C>G (p.Ala606Gly)
c.25283C>G (p.Ala8428Gly)
c.25139C>G (p.Ala8380Gly)
c.685C>G
c.1018C>G
c.927C>G
c.1055C>G (p.Ala352Gly)
c.24068C>G (p.Ala8023Gly)
n.2031C>G
c.4118C>G (p.Ala1373Gly)
n.8975C>G
c.3221C>G (p.Ala1074Gly)
n.8867C>G
n.1897C>G
n.4305C>G
n.2120C>G
c.1748C>G (p.Ala583Gly)
c.25388C>G (p.Ala8463Gly)
c.25376C>G (p.Ala8459Gly)
c.25367C>G (p.Ala8456Gly)
c.25337C>G (p.Ala8446Gly)
c.25373C>G (p.Ala8458Gly)
c.25319C>G (p.Ala8440Gly)
c.25316C>G (p.Ala8439Gly)
c.25304C>G (p.Ala8435Gly)
c.25247C>G (p.Ala8416Gly)
c.25235C>G (p.Ala8412Gly)
c.25232C>G (p.Ala8411Gly)
c.25229C>G (p.Ala8410Gly)
c.25385C>G (p.Ala8462Gly)
c.25223C>G (p.Ala8408Gly)
c.23663C>G (p.Ala7888Gly)
c.23156C>G (p.Ala7719Gly)
c.18623C>G (p.Ala6208Gly)
c.1889C>G (p.Ala630Gly)
c.25361C>G (p.Ala8454Gly)
c.25310C>G (p.Ala8437Gly)
c.25163C>G (p.Ala8388Gly)
6g.152140125G=CA1673206402SYNE1c.1817C= (p.Ala606=)
c.25283C= (p.Ala8428=)
c.25139C= (p.Ala8380=)
c.685C=
c.1018C=
c.927C=
c.1055C= (p.Ala352=)
c.24068C= (p.Ala8023=)
n.2031C=
c.4118C= (p.Ala1373=)
n.8975C=
c.3221C= (p.Ala1074=)
n.8867C=
n.1897C=
n.4305C=
n.2120C=
c.1748C= (p.Ala583=)
c.25388C= (p.Ala8463=)
c.25376C= (p.Ala8459=)
c.25367C= (p.Ala8456=)
c.25337C= (p.Ala8446=)
c.25373C= (p.Ala8458=)
c.25319C= (p.Ala8440=)
c.25316C= (p.Ala8439=)
c.25304C= (p.Ala8435=)
c.25247C= (p.Ala8416=)
c.25235C= (p.Ala8412=)
c.25232C= (p.Ala8411=)
c.25229C= (p.Ala8410=)
c.25385C= (p.Ala8462=)
c.25223C= (p.Ala8408=)
c.23663C= (p.Ala7888=)
c.23156C= (p.Ala7719=)
c.18623C= (p.Ala6208=)
c.1889C= (p.Ala630=)
c.25361C= (p.Ala8454=)
c.25310C= (p.Ala8437=)
c.25163C= (p.Ala8388=)
6g.152140125G>TCA4052868SYNE1c.1817C>A (p.Ala606Glu)
c.25283C>A (p.Ala8428Glu)
c.25139C>A (p.Ala8380Glu)
c.685C>A
c.1018C>A
c.927C>A
c.1055C>A (p.Ala352Glu)
c.24068C>A (p.Ala8023Glu)
n.2031C>A
c.4118C>A (p.Ala1373Glu)
n.8975C>A
c.3221C>A (p.Ala1074Glu)
n.8867C>A
n.1897C>A
n.4305C>A
n.2120C>A
c.1748C>A (p.Ala583Glu)
c.25388C>A (p.Ala8463Glu)
c.25376C>A (p.Ala8459Glu)
c.25367C>A (p.Ala8456Glu)
c.25337C>A (p.Ala8446Glu)
c.25373C>A (p.Ala8458Glu)
c.25319C>A (p.Ala8440Glu)
c.25316C>A (p.Ala8439Glu)
c.25304C>A (p.Ala8435Glu)
c.25247C>A (p.Ala8416Glu)
c.25235C>A (p.Ala8412Glu)
c.25232C>A (p.Ala8411Glu)
c.25229C>A (p.Ala8410Glu)
c.25385C>A (p.Ala8462Glu)
c.25223C>A (p.Ala8408Glu)
c.23663C>A (p.Ala7888Glu)
c.23156C>A (p.Ala7719Glu)
c.18623C>A (p.Ala6208Glu)
c.1889C>A (p.Ala630Glu)
c.25361C>A (p.Ala8454Glu)
c.25310C>A (p.Ala8437Glu)
c.25163C>A (p.Ala8388Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140126C>ACA366080857SYNE1c.1816G>T (p.Ala606Ser)
c.25282G>T (p.Ala8428Ser)
c.25138G>T (p.Ala8380Ser)
c.684G>T
c.1017G>T
c.926G>T
c.1054G>T (p.Ala352Ser)
c.24067G>T (p.Ala8023Ser)
n.2030G>T
c.4117G>T (p.Ala1373Ser)
n.8974G>T
c.3220G>T (p.Ala1074Ser)
n.8866G>T
n.1896G>T
n.4304G>T
n.2119G>T
c.1747G>T (p.Ala583Ser)
c.25387G>T (p.Ala8463Ser)
c.25375G>T (p.Ala8459Ser)
c.25366G>T (p.Ala8456Ser)
c.25336G>T (p.Ala8446Ser)
c.25372G>T (p.Ala8458Ser)
c.25318G>T (p.Ala8440Ser)
c.25315G>T (p.Ala8439Ser)
c.25303G>T (p.Ala8435Ser)
c.25246G>T (p.Ala8416Ser)
c.25234G>T (p.Ala8412Ser)
c.25231G>T (p.Ala8411Ser)
c.25228G>T (p.Ala8410Ser)
c.25384G>T (p.Ala8462Ser)
c.25222G>T (p.Ala8408Ser)
c.23662G>T (p.Ala7888Ser)
c.23155G>T (p.Ala7719Ser)
c.18622G>T (p.Ala6208Ser)
c.1888G>T (p.Ala630Ser)
c.25360G>T (p.Ala8454Ser)
c.25309G>T (p.Ala8437Ser)
c.25162G>T (p.Ala8388Ser)
6g.152140126C>GCA366080860SYNE1c.1816G>C (p.Ala606Pro)
c.25282G>C (p.Ala8428Pro)
c.25138G>C (p.Ala8380Pro)
c.684G>C
c.1017G>C
c.926G>C
c.1054G>C (p.Ala352Pro)
c.24067G>C (p.Ala8023Pro)
n.2030G>C
c.4117G>C (p.Ala1373Pro)
n.8974G>C
c.3220G>C (p.Ala1074Pro)
n.8866G>C
n.1896G>C
n.4304G>C
n.2119G>C
c.1747G>C (p.Ala583Pro)
c.25387G>C (p.Ala8463Pro)
c.25375G>C (p.Ala8459Pro)
c.25366G>C (p.Ala8456Pro)
c.25336G>C (p.Ala8446Pro)
c.25372G>C (p.Ala8458Pro)
c.25318G>C (p.Ala8440Pro)
c.25315G>C (p.Ala8439Pro)
c.25303G>C (p.Ala8435Pro)
c.25246G>C (p.Ala8416Pro)
c.25234G>C (p.Ala8412Pro)
c.25231G>C (p.Ala8411Pro)
c.25228G>C (p.Ala8410Pro)
c.25384G>C (p.Ala8462Pro)
c.25222G>C (p.Ala8408Pro)
c.23662G>C (p.Ala7888Pro)
c.23155G>C (p.Ala7719Pro)
c.18622G>C (p.Ala6208Pro)
c.1888G>C (p.Ala630Pro)
c.25360G>C (p.Ala8454Pro)
c.25309G>C (p.Ala8437Pro)
c.25162G>C (p.Ala8388Pro)
6g.152140126C>TCA366080861SYNE1c.1816G>A (p.Ala606Thr)
c.25282G>A (p.Ala8428Thr)
c.25138G>A (p.Ala8380Thr)
c.684G>A
c.1017G>A
c.926G>A
c.1054G>A (p.Ala352Thr)
c.24067G>A (p.Ala8023Thr)
n.2030G>A
c.4117G>A (p.Ala1373Thr)
n.8974G>A
c.3220G>A (p.Ala1074Thr)
n.8866G>A
n.1896G>A
n.4304G>A
n.2119G>A
c.1747G>A (p.Ala583Thr)
c.25387G>A (p.Ala8463Thr)
c.25375G>A (p.Ala8459Thr)
c.25366G>A (p.Ala8456Thr)
c.25336G>A (p.Ala8446Thr)
c.25372G>A (p.Ala8458Thr)
c.25318G>A (p.Ala8440Thr)
c.25315G>A (p.Ala8439Thr)
c.25303G>A (p.Ala8435Thr)
c.25246G>A (p.Ala8416Thr)
c.25234G>A (p.Ala8412Thr)
c.25231G>A (p.Ala8411Thr)
c.25228G>A (p.Ala8410Thr)
c.25384G>A (p.Ala8462Thr)
c.25222G>A (p.Ala8408Thr)
c.23662G>A (p.Ala7888Thr)
c.23155G>A (p.Ala7719Thr)
c.18622G>A (p.Ala6208Thr)
c.1888G>A (p.Ala630Thr)
c.25360G>A (p.Ala8454Thr)
c.25309G>A (p.Ala8437Thr)
c.25162G>A (p.Ala8388Thr)
 gnomAD v4
6g.152140127C>ACA366080863SYNE1c.1815G>T (p.Gln605His)
c.25281G>T (p.Gln8427His)
c.25137G>T (p.Gln8379His)
c.683G>T
c.1016G>T
c.925G>T
c.1053G>T (p.Gln351His)
c.24066G>T (p.Gln8022His)
n.2029G>T
c.4116G>T (p.Gln1372His)
n.8973G>T
c.3219G>T (p.Gln1073His)
n.8865G>T
n.1895G>T
n.4303G>T
n.2118G>T
c.1746G>T (p.Gln582His)
c.25386G>T (p.Gln8462His)
c.25374G>T (p.Gln8458His)
c.25365G>T (p.Gln8455His)
c.25335G>T (p.Gln8445His)
c.25371G>T (p.Gln8457His)
c.25317G>T (p.Gln8439His)
c.25314G>T (p.Gln8438His)
c.25302G>T (p.Gln8434His)
c.25245G>T (p.Gln8415His)
c.25233G>T (p.Gln8411His)
c.25230G>T (p.Gln8410His)
c.25227G>T (p.Gln8409His)
c.25383G>T (p.Gln8461His)
c.25221G>T (p.Gln8407His)
c.23661G>T (p.Gln7887His)
c.23154G>T (p.Gln7718His)
c.18621G>T (p.Gln6207His)
c.1887G>T (p.Gln629His)
c.25359G>T (p.Gln8453His)
c.25308G>T (p.Gln8436His)
c.25161G>T (p.Gln8387His)
6g.152140127C>GCA366080869SYNE1c.1815G>C (p.Gln605His)
c.25281G>C (p.Gln8427His)
c.25137G>C (p.Gln8379His)
c.683G>C
c.1016G>C
c.925G>C
c.1053G>C (p.Gln351His)
c.24066G>C (p.Gln8022His)
n.2029G>C
c.4116G>C (p.Gln1372His)
n.8973G>C
c.3219G>C (p.Gln1073His)
n.8865G>C
n.1895G>C
n.4303G>C
n.2118G>C
c.1746G>C (p.Gln582His)
c.25386G>C (p.Gln8462His)
c.25374G>C (p.Gln8458His)
c.25365G>C (p.Gln8455His)
c.25335G>C (p.Gln8445His)
c.25371G>C (p.Gln8457His)
c.25317G>C (p.Gln8439His)
c.25314G>C (p.Gln8438His)
c.25302G>C (p.Gln8434His)
c.25245G>C (p.Gln8415His)
c.25233G>C (p.Gln8411His)
c.25230G>C (p.Gln8410His)
c.25227G>C (p.Gln8409His)
c.25383G>C (p.Gln8461His)
c.25221G>C (p.Gln8407His)
c.23661G>C (p.Gln7887His)
c.23154G>C (p.Gln7718His)
c.18621G>C (p.Gln6207His)
c.1887G>C (p.Gln629His)
c.25359G>C (p.Gln8453His)
c.25308G>C (p.Gln8436His)
c.25161G>C (p.Gln8387His)
6g.152140127C>TCA452969960SYNE1c.1815G>A (p.Gln605=)
c.25281G>A (p.Gln8427=)
c.25137G>A (p.Gln8379=)
c.683G>A
c.1016G>A
c.925G>A
c.1053G>A (p.Gln351=)
c.24066G>A (p.Gln8022=)
n.2029G>A
c.4116G>A (p.Gln1372=)
n.8973G>A
c.3219G>A (p.Gln1073=)
n.8865G>A
n.1895G>A
n.4303G>A
n.2118G>A
c.1746G>A (p.Gln582=)
c.25386G>A (p.Gln8462=)
c.25374G>A (p.Gln8458=)
c.25365G>A (p.Gln8455=)
c.25335G>A (p.Gln8445=)
c.25371G>A (p.Gln8457=)
c.25317G>A (p.Gln8439=)
c.25314G>A (p.Gln8438=)
c.25302G>A (p.Gln8434=)
c.25245G>A (p.Gln8415=)
c.25233G>A (p.Gln8411=)
c.25230G>A (p.Gln8410=)
c.25227G>A (p.Gln8409=)
c.25383G>A (p.Gln8461=)
c.25221G>A (p.Gln8407=)
c.23661G>A (p.Gln7887=)
c.23154G>A (p.Gln7718=)
c.18621G>A (p.Gln6207=)
c.1887G>A (p.Gln629=)
c.25359G>A (p.Gln8453=)
c.25308G>A (p.Gln8436=)
c.25161G>A (p.Gln8387=)
6g.152140128T>ACA366080871SYNE1c.1814A>T (p.Gln605Leu)
c.25280A>T (p.Gln8427Leu)
c.25136A>T (p.Gln8379Leu)
c.682A>T
c.1015A>T
c.924A>T
c.1052A>T (p.Gln351Leu)
c.24065A>T (p.Gln8022Leu)
n.2028A>T
c.4115A>T (p.Gln1372Leu)
n.8972A>T
c.3218A>T (p.Gln1073Leu)
n.8864A>T
n.1894A>T
n.4302A>T
n.2117A>T
c.1745A>T (p.Gln582Leu)
c.25385A>T (p.Gln8462Leu)
c.25373A>T (p.Gln8458Leu)
c.25364A>T (p.Gln8455Leu)
c.25334A>T (p.Gln8445Leu)
c.25370A>T (p.Gln8457Leu)
c.25316A>T (p.Gln8439Leu)
c.25313A>T (p.Gln8438Leu)
c.25301A>T (p.Gln8434Leu)
c.25244A>T (p.Gln8415Leu)
c.25232A>T (p.Gln8411Leu)
c.25229A>T (p.Gln8410Leu)
c.25226A>T (p.Gln8409Leu)
c.25382A>T (p.Gln8461Leu)
c.25220A>T (p.Gln8407Leu)
c.23660A>T (p.Gln7887Leu)
c.23153A>T (p.Gln7718Leu)
c.18620A>T (p.Gln6207Leu)
c.1886A>T (p.Gln629Leu)
c.25358A>T (p.Gln8453Leu)
c.25307A>T (p.Gln8436Leu)
c.25160A>T (p.Gln8387Leu)
6g.152140128T>CCA366080874SYNE1c.1814A>G (p.Gln605Arg)
c.25280A>G (p.Gln8427Arg)
c.25136A>G (p.Gln8379Arg)
c.682A>G
c.1015A>G
c.924A>G
c.1052A>G (p.Gln351Arg)
c.24065A>G (p.Gln8022Arg)
n.2028A>G
c.4115A>G (p.Gln1372Arg)
n.8972A>G
c.3218A>G (p.Gln1073Arg)
n.8864A>G
n.1894A>G
n.4302A>G
n.2117A>G
c.1745A>G (p.Gln582Arg)
c.25385A>G (p.Gln8462Arg)
c.25373A>G (p.Gln8458Arg)
c.25364A>G (p.Gln8455Arg)
c.25334A>G (p.Gln8445Arg)
c.25370A>G (p.Gln8457Arg)
c.25316A>G (p.Gln8439Arg)
c.25313A>G (p.Gln8438Arg)
c.25301A>G (p.Gln8434Arg)
c.25244A>G (p.Gln8415Arg)
c.25232A>G (p.Gln8411Arg)
c.25229A>G (p.Gln8410Arg)
c.25226A>G (p.Gln8409Arg)
c.25382A>G (p.Gln8461Arg)
c.25220A>G (p.Gln8407Arg)
c.23660A>G (p.Gln7887Arg)
c.23153A>G (p.Gln7718Arg)
c.18620A>G (p.Gln6207Arg)
c.1886A>G (p.Gln629Arg)
c.25358A>G (p.Gln8453Arg)
c.25307A>G (p.Gln8436Arg)
c.25160A>G (p.Gln8387Arg)
 dbSNP gnomAD v4
6g.152140128T>GCA366080875SYNE1c.1814A>C (p.Gln605Pro)
c.25280A>C (p.Gln8427Pro)
c.25136A>C (p.Gln8379Pro)
c.682A>C
c.1015A>C
c.924A>C
c.1052A>C (p.Gln351Pro)
c.24065A>C (p.Gln8022Pro)
n.2028A>C
c.4115A>C (p.Gln1372Pro)
n.8972A>C
c.3218A>C (p.Gln1073Pro)
n.8864A>C
n.1894A>C
n.4302A>C
n.2117A>C
c.1745A>C (p.Gln582Pro)
c.25385A>C (p.Gln8462Pro)
c.25373A>C (p.Gln8458Pro)
c.25364A>C (p.Gln8455Pro)
c.25334A>C (p.Gln8445Pro)
c.25370A>C (p.Gln8457Pro)
c.25316A>C (p.Gln8439Pro)
c.25313A>C (p.Gln8438Pro)
c.25301A>C (p.Gln8434Pro)
c.25244A>C (p.Gln8415Pro)
c.25232A>C (p.Gln8411Pro)
c.25229A>C (p.Gln8410Pro)
c.25226A>C (p.Gln8409Pro)
c.25382A>C (p.Gln8461Pro)
c.25220A>C (p.Gln8407Pro)
c.23660A>C (p.Gln7887Pro)
c.23153A>C (p.Gln7718Pro)
c.18620A>C (p.Gln6207Pro)
c.1886A>C (p.Gln629Pro)
c.25358A>C (p.Gln8453Pro)
c.25307A>C (p.Gln8436Pro)
c.25160A>C (p.Gln8387Pro)
 gnomAD v4
6g.152140128T=CA1673206408SYNE1c.1814A= (p.Gln605=)
c.25280A= (p.Gln8427=)
c.25136A= (p.Gln8379=)
c.682A=
c.1015A=
c.924A=
c.1052A= (p.Gln351=)
c.24065A= (p.Gln8022=)
n.2028A=
c.4115A= (p.Gln1372=)
n.8972A=
c.3218A= (p.Gln1073=)
n.8864A=
n.1894A=
n.4302A=
n.2117A=
c.1745A= (p.Gln582=)
c.25385A= (p.Gln8462=)
c.25373A= (p.Gln8458=)
c.25364A= (p.Gln8455=)
c.25334A= (p.Gln8445=)
c.25370A= (p.Gln8457=)
c.25316A= (p.Gln8439=)
c.25313A= (p.Gln8438=)
c.25301A= (p.Gln8434=)
c.25244A= (p.Gln8415=)
c.25232A= (p.Gln8411=)
c.25229A= (p.Gln8410=)
c.25226A= (p.Gln8409=)
c.25382A= (p.Gln8461=)
c.25220A= (p.Gln8407=)
c.23660A= (p.Gln7887=)
c.23153A= (p.Gln7718=)
c.18620A= (p.Gln6207=)
c.1886A= (p.Gln629=)
c.25358A= (p.Gln8453=)
c.25307A= (p.Gln8436=)
c.25160A= (p.Gln8387=)
6g.152140129G>ACA366080880SYNE1c.1813C>T (p.Gln605Ter)
c.25279C>T (p.Gln8427Ter)
c.25135C>T (p.Gln8379Ter)
c.681C>T
c.1014C>T
c.923C>T
c.1051C>T (p.Gln351Ter)
c.24064C>T (p.Gln8022Ter)
n.2027C>T
c.4114C>T (p.Gln1372Ter)
n.8971C>T
c.3217C>T (p.Gln1073Ter)
n.8863C>T
n.1893C>T
n.4301C>T
n.2116C>T
c.1744C>T (p.Gln582Ter)
c.25384C>T (p.Gln8462Ter)
c.25372C>T (p.Gln8458Ter)
c.25363C>T (p.Gln8455Ter)
c.25333C>T (p.Gln8445Ter)
c.25369C>T (p.Gln8457Ter)
c.25315C>T (p.Gln8439Ter)
c.25312C>T (p.Gln8438Ter)
c.25300C>T (p.Gln8434Ter)
c.25243C>T (p.Gln8415Ter)
c.25231C>T (p.Gln8411Ter)
c.25228C>T (p.Gln8410Ter)
c.25225C>T (p.Gln8409Ter)
c.25381C>T (p.Gln8461Ter)
c.25219C>T (p.Gln8407Ter)
c.23659C>T (p.Gln7887Ter)
c.23152C>T (p.Gln7718Ter)
c.18619C>T (p.Gln6207Ter)
c.1885C>T (p.Gln629Ter)
c.25357C>T (p.Gln8453Ter)
c.25306C>T (p.Gln8436Ter)
c.25159C>T (p.Gln8387Ter)
 gnomAD v4
6g.152140129G>CCA366080879SYNE1c.1813C>G (p.Gln605Glu)
c.25279C>G (p.Gln8427Glu)
c.25135C>G (p.Gln8379Glu)
c.681C>G
c.1014C>G
c.923C>G
c.1051C>G (p.Gln351Glu)
c.24064C>G (p.Gln8022Glu)
n.2027C>G
c.4114C>G (p.Gln1372Glu)
n.8971C>G
c.3217C>G (p.Gln1073Glu)
n.8863C>G
n.1893C>G
n.4301C>G
n.2116C>G
c.1744C>G (p.Gln582Glu)
c.25384C>G (p.Gln8462Glu)
c.25372C>G (p.Gln8458Glu)
c.25363C>G (p.Gln8455Glu)
c.25333C>G (p.Gln8445Glu)
c.25369C>G (p.Gln8457Glu)
c.25315C>G (p.Gln8439Glu)
c.25312C>G (p.Gln8438Glu)
c.25300C>G (p.Gln8434Glu)
c.25243C>G (p.Gln8415Glu)
c.25231C>G (p.Gln8411Glu)
c.25228C>G (p.Gln8410Glu)
c.25225C>G (p.Gln8409Glu)
c.25381C>G (p.Gln8461Glu)
c.25219C>G (p.Gln8407Glu)
c.23659C>G (p.Gln7887Glu)
c.23152C>G (p.Gln7718Glu)
c.18619C>G (p.Gln6207Glu)
c.1885C>G (p.Gln629Glu)
c.25357C>G (p.Gln8453Glu)
c.25306C>G (p.Gln8436Glu)
c.25159C>G (p.Gln8387Glu)
6g.152140129G>TCA366080877SYNE1c.1813C>A (p.Gln605Lys)
c.25279C>A (p.Gln8427Lys)
c.25135C>A (p.Gln8379Lys)
c.681C>A
c.1014C>A
c.923C>A
c.1051C>A (p.Gln351Lys)
c.24064C>A (p.Gln8022Lys)
n.2027C>A
c.4114C>A (p.Gln1372Lys)
n.8971C>A
c.3217C>A (p.Gln1073Lys)
n.8863C>A
n.1893C>A
n.4301C>A
n.2116C>A
c.1744C>A (p.Gln582Lys)
c.25384C>A (p.Gln8462Lys)
c.25372C>A (p.Gln8458Lys)
c.25363C>A (p.Gln8455Lys)
c.25333C>A (p.Gln8445Lys)
c.25369C>A (p.Gln8457Lys)
c.25315C>A (p.Gln8439Lys)
c.25312C>A (p.Gln8438Lys)
c.25300C>A (p.Gln8434Lys)
c.25243C>A (p.Gln8415Lys)
c.25231C>A (p.Gln8411Lys)
c.25228C>A (p.Gln8410Lys)
c.25225C>A (p.Gln8409Lys)
c.25381C>A (p.Gln8461Lys)
c.25219C>A (p.Gln8407Lys)
c.23659C>A (p.Gln7887Lys)
c.23152C>A (p.Gln7718Lys)
c.18619C>A (p.Gln6207Lys)
c.1885C>A (p.Gln629Lys)
c.25357C>A (p.Gln8453Lys)
c.25306C>A (p.Gln8436Lys)
c.25159C>A (p.Gln8387Lys)
6g.152140130G>ACA452969961SYNE1c.1812C>T (p.Ala604=)
c.25278C>T (p.Ala8426=)
c.25134C>T (p.Ala8378=)
c.680C>T
c.1013C>T
c.922C>T
c.1050C>T (p.Ala350=)
c.24063C>T (p.Ala8021=)
n.2026C>T
c.4113C>T (p.Ala1371=)
n.8970C>T
c.3216C>T (p.Ala1072=)
n.8862C>T
n.1892C>T
n.4300C>T
n.2115C>T
c.1743C>T (p.Ala581=)
c.25383C>T (p.Ala8461=)
c.25371C>T (p.Ala8457=)
c.25362C>T (p.Ala8454=)
c.25332C>T (p.Ala8444=)
c.25368C>T (p.Ala8456=)
c.25314C>T (p.Ala8438=)
c.25311C>T (p.Ala8437=)
c.25299C>T (p.Ala8433=)
c.25242C>T (p.Ala8414=)
c.25230C>T (p.Ala8410=)
c.25227C>T (p.Ala8409=)
c.25224C>T (p.Ala8408=)
c.25380C>T (p.Ala8460=)
c.25218C>T (p.Ala8406=)
c.23658C>T (p.Ala7886=)
c.23151C>T (p.Ala7717=)
c.18618C>T (p.Ala6206=)
c.1884C>T (p.Ala628=)
c.25356C>T (p.Ala8452=)
c.25305C>T (p.Ala8435=)
c.25158C>T (p.Ala8386=)
 COSMIC COSMIC
6g.152140130G>CCA452969963SYNE1c.1812C>G (p.Ala604=)
c.25278C>G (p.Ala8426=)
c.25134C>G (p.Ala8378=)
c.680C>G
c.1013C>G
c.922C>G
c.1050C>G (p.Ala350=)
c.24063C>G (p.Ala8021=)
n.2026C>G
c.4113C>G (p.Ala1371=)
n.8970C>G
c.3216C>G (p.Ala1072=)
n.8862C>G
n.1892C>G
n.4300C>G
n.2115C>G
c.1743C>G (p.Ala581=)
c.25383C>G (p.Ala8461=)
c.25371C>G (p.Ala8457=)
c.25362C>G (p.Ala8454=)
c.25332C>G (p.Ala8444=)
c.25368C>G (p.Ala8456=)
c.25314C>G (p.Ala8438=)
c.25311C>G (p.Ala8437=)
c.25299C>G (p.Ala8433=)
c.25242C>G (p.Ala8414=)
c.25230C>G (p.Ala8410=)
c.25227C>G (p.Ala8409=)
c.25224C>G (p.Ala8408=)
c.25380C>G (p.Ala8460=)
c.25218C>G (p.Ala8406=)
c.23658C>G (p.Ala7886=)
c.23151C>G (p.Ala7717=)
c.18618C>G (p.Ala6206=)
c.1884C>G (p.Ala628=)
c.25356C>G (p.Ala8452=)
c.25305C>G (p.Ala8435=)
c.25158C>G (p.Ala8386=)
6g.152140130G>TCA452969962SYNE1c.1812C>A (p.Ala604=)
c.25278C>A (p.Ala8426=)
c.25134C>A (p.Ala8378=)
c.680C>A
c.1013C>A
c.922C>A
c.1050C>A (p.Ala350=)
c.24063C>A (p.Ala8021=)
n.2026C>A
c.4113C>A (p.Ala1371=)
n.8970C>A
c.3216C>A (p.Ala1072=)
n.8862C>A
n.1892C>A
n.4300C>A
n.2115C>A
c.1743C>A (p.Ala581=)
c.25383C>A (p.Ala8461=)
c.25371C>A (p.Ala8457=)
c.25362C>A (p.Ala8454=)
c.25332C>A (p.Ala8444=)
c.25368C>A (p.Ala8456=)
c.25314C>A (p.Ala8438=)
c.25311C>A (p.Ala8437=)
c.25299C>A (p.Ala8433=)
c.25242C>A (p.Ala8414=)
c.25230C>A (p.Ala8410=)
c.25227C>A (p.Ala8409=)
c.25224C>A (p.Ala8408=)
c.25380C>A (p.Ala8460=)
c.25218C>A (p.Ala8406=)
c.23658C>A (p.Ala7886=)
c.23151C>A (p.Ala7717=)
c.18618C>A (p.Ala6206=)
c.1884C>A (p.Ala628=)
c.25356C>A (p.Ala8452=)
c.25305C>A (p.Ala8435=)
c.25158C>A (p.Ala8386=)
6g.152140131G>ACA366080885SYNE1c.1811C>T (p.Ala604Val)
c.25277C>T (p.Ala8426Val)
c.25133C>T (p.Ala8378Val)
c.679C>T
c.1012C>T
c.921C>T
c.1049C>T (p.Ala350Val)
c.24062C>T (p.Ala8021Val)
n.2025C>T
c.4112C>T (p.Ala1371Val)
n.8969C>T
c.3215C>T (p.Ala1072Val)
n.8861C>T
n.1891C>T
n.4299C>T
n.2114C>T
c.1742C>T (p.Ala581Val)
c.25382C>T (p.Ala8461Val)
c.25370C>T (p.Ala8457Val)
c.25361C>T (p.Ala8454Val)
c.25331C>T (p.Ala8444Val)
c.25367C>T (p.Ala8456Val)
c.25313C>T (p.Ala8438Val)
c.25310C>T (p.Ala8437Val)
c.25298C>T (p.Ala8433Val)
c.25241C>T (p.Ala8414Val)
c.25229C>T (p.Ala8410Val)
c.25226C>T (p.Ala8409Val)
c.25223C>T (p.Ala8408Val)
c.25379C>T (p.Ala8460Val)
c.25217C>T (p.Ala8406Val)
c.23657C>T (p.Ala7886Val)
c.23150C>T (p.Ala7717Val)
c.18617C>T (p.Ala6206Val)
c.1883C>T (p.Ala628Val)
c.25355C>T (p.Ala8452Val)
c.25304C>T (p.Ala8435Val)
c.25157C>T (p.Ala8386Val)
6g.152140131G>CCA366080883SYNE1c.1811C>G (p.Ala604Gly)
c.25277C>G (p.Ala8426Gly)
c.25133C>G (p.Ala8378Gly)
c.679C>G
c.1012C>G
c.921C>G
c.1049C>G (p.Ala350Gly)
c.24062C>G (p.Ala8021Gly)
n.2025C>G
c.4112C>G (p.Ala1371Gly)
n.8969C>G
c.3215C>G (p.Ala1072Gly)
n.8861C>G
n.1891C>G
n.4299C>G
n.2114C>G
c.1742C>G (p.Ala581Gly)
c.25382C>G (p.Ala8461Gly)
c.25370C>G (p.Ala8457Gly)
c.25361C>G (p.Ala8454Gly)
c.25331C>G (p.Ala8444Gly)
c.25367C>G (p.Ala8456Gly)
c.25313C>G (p.Ala8438Gly)
c.25310C>G (p.Ala8437Gly)
c.25298C>G (p.Ala8433Gly)
c.25241C>G (p.Ala8414Gly)
c.25229C>G (p.Ala8410Gly)
c.25226C>G (p.Ala8409Gly)
c.25223C>G (p.Ala8408Gly)
c.25379C>G (p.Ala8460Gly)
c.25217C>G (p.Ala8406Gly)
c.23657C>G (p.Ala7886Gly)
c.23150C>G (p.Ala7717Gly)
c.18617C>G (p.Ala6206Gly)
c.1883C>G (p.Ala628Gly)
c.25355C>G (p.Ala8452Gly)
c.25304C>G (p.Ala8435Gly)
c.25157C>G (p.Ala8386Gly)
6g.152140131G>TCA366080884SYNE1c.1811C>A (p.Ala604Asp)
c.25277C>A (p.Ala8426Asp)
c.25133C>A (p.Ala8378Asp)
c.679C>A
c.1012C>A
c.921C>A
c.1049C>A (p.Ala350Asp)
c.24062C>A (p.Ala8021Asp)
n.2025C>A
c.4112C>A (p.Ala1371Asp)
n.8969C>A
c.3215C>A (p.Ala1072Asp)
n.8861C>A
n.1891C>A
n.4299C>A
n.2114C>A
c.1742C>A (p.Ala581Asp)
c.25382C>A (p.Ala8461Asp)
c.25370C>A (p.Ala8457Asp)
c.25361C>A (p.Ala8454Asp)
c.25331C>A (p.Ala8444Asp)
c.25367C>A (p.Ala8456Asp)
c.25313C>A (p.Ala8438Asp)
c.25310C>A (p.Ala8437Asp)
c.25298C>A (p.Ala8433Asp)
c.25241C>A (p.Ala8414Asp)
c.25229C>A (p.Ala8410Asp)
c.25226C>A (p.Ala8409Asp)
c.25223C>A (p.Ala8408Asp)
c.25379C>A (p.Ala8460Asp)
c.25217C>A (p.Ala8406Asp)
c.23657C>A (p.Ala7886Asp)
c.23150C>A (p.Ala7717Asp)
c.18617C>A (p.Ala6206Asp)
c.1883C>A (p.Ala628Asp)
c.25355C>A (p.Ala8452Asp)
c.25304C>A (p.Ala8435Asp)
c.25157C>A (p.Ala8386Asp)
6g.152140132C>ACA366080886SYNE1c.1810G>T (p.Ala604Ser)
c.25276G>T (p.Ala8426Ser)
c.25132G>T (p.Ala8378Ser)
c.678G>T
c.1011G>T
c.920G>T
c.1048G>T (p.Ala350Ser)
c.24061G>T (p.Ala8021Ser)
n.2024G>T
c.4111G>T (p.Ala1371Ser)
n.8968G>T
c.3214G>T (p.Ala1072Ser)
n.8860G>T
n.1890G>T
n.4298G>T
n.2113G>T
c.1741G>T (p.Ala581Ser)
c.25381G>T (p.Ala8461Ser)
c.25369G>T (p.Ala8457Ser)
c.25360G>T (p.Ala8454Ser)
c.25330G>T (p.Ala8444Ser)
c.25366G>T (p.Ala8456Ser)
c.25312G>T (p.Ala8438Ser)
c.25309G>T (p.Ala8437Ser)
c.25297G>T (p.Ala8433Ser)
c.25240G>T (p.Ala8414Ser)
c.25228G>T (p.Ala8410Ser)
c.25225G>T (p.Ala8409Ser)
c.25222G>T (p.Ala8408Ser)
c.25378G>T (p.Ala8460Ser)
c.25216G>T (p.Ala8406Ser)
c.23656G>T (p.Ala7886Ser)
c.23149G>T (p.Ala7717Ser)
c.18616G>T (p.Ala6206Ser)
c.1882G>T (p.Ala628Ser)
c.25354G>T (p.Ala8452Ser)
c.25303G>T (p.Ala8435Ser)
c.25156G>T (p.Ala8386Ser)
6g.152140132C>GCA366080887SYNE1c.1810G>C (p.Ala604Pro)
c.25276G>C (p.Ala8426Pro)
c.25132G>C (p.Ala8378Pro)
c.678G>C
c.1011G>C
c.920G>C
c.1048G>C (p.Ala350Pro)
c.24061G>C (p.Ala8021Pro)
n.2024G>C
c.4111G>C (p.Ala1371Pro)
n.8968G>C
c.3214G>C (p.Ala1072Pro)
n.8860G>C
n.1890G>C
n.4298G>C
n.2113G>C
c.1741G>C (p.Ala581Pro)
c.25381G>C (p.Ala8461Pro)
c.25369G>C (p.Ala8457Pro)
c.25360G>C (p.Ala8454Pro)
c.25330G>C (p.Ala8444Pro)
c.25366G>C (p.Ala8456Pro)
c.25312G>C (p.Ala8438Pro)
c.25309G>C (p.Ala8437Pro)
c.25297G>C (p.Ala8433Pro)
c.25240G>C (p.Ala8414Pro)
c.25228G>C (p.Ala8410Pro)
c.25225G>C (p.Ala8409Pro)
c.25222G>C (p.Ala8408Pro)
c.25378G>C (p.Ala8460Pro)
c.25216G>C (p.Ala8406Pro)
c.23656G>C (p.Ala7886Pro)
c.23149G>C (p.Ala7717Pro)
c.18616G>C (p.Ala6206Pro)
c.1882G>C (p.Ala628Pro)
c.25354G>C (p.Ala8452Pro)
c.25303G>C (p.Ala8435Pro)
c.25156G>C (p.Ala8386Pro)
6g.152140132C>TCA366080889SYNE1c.1810G>A (p.Ala604Thr)
c.25276G>A (p.Ala8426Thr)
c.25132G>A (p.Ala8378Thr)
c.678G>A
c.1011G>A
c.920G>A
c.1048G>A (p.Ala350Thr)
c.24061G>A (p.Ala8021Thr)
n.2024G>A
c.4111G>A (p.Ala1371Thr)
n.8968G>A
c.3214G>A (p.Ala1072Thr)
n.8860G>A
n.1890G>A
n.4298G>A
n.2113G>A
c.1741G>A (p.Ala581Thr)
c.25381G>A (p.Ala8461Thr)
c.25369G>A (p.Ala8457Thr)
c.25360G>A (p.Ala8454Thr)
c.25330G>A (p.Ala8444Thr)
c.25366G>A (p.Ala8456Thr)
c.25312G>A (p.Ala8438Thr)
c.25309G>A (p.Ala8437Thr)
c.25297G>A (p.Ala8433Thr)
c.25240G>A (p.Ala8414Thr)
c.25228G>A (p.Ala8410Thr)
c.25225G>A (p.Ala8409Thr)
c.25222G>A (p.Ala8408Thr)
c.25378G>A (p.Ala8460Thr)
c.25216G>A (p.Ala8406Thr)
c.23656G>A (p.Ala7886Thr)
c.23149G>A (p.Ala7717Thr)
c.18616G>A (p.Ala6206Thr)
c.1882G>A (p.Ala628Thr)
c.25354G>A (p.Ala8452Thr)
c.25303G>A (p.Ala8435Thr)
c.25156G>A (p.Ala8386Thr)
6g.152140133C>ACA366080890SYNE1c.1809G>T (p.Gln603His)
c.25275G>T (p.Gln8425His)
c.25131G>T (p.Gln8377His)
c.677G>T
c.1010G>T
c.919G>T
c.1047G>T (p.Gln349His)
c.24060G>T (p.Gln8020His)
n.2023G>T
c.4110G>T (p.Gln1370His)
n.8967G>T
c.3213G>T (p.Gln1071His)
n.8859G>T
n.1889G>T
n.4297G>T
n.2112G>T
c.1740G>T (p.Gln580His)
c.25380G>T (p.Gln8460His)
c.25368G>T (p.Gln8456His)
c.25359G>T (p.Gln8453His)
c.25329G>T (p.Gln8443His)
c.25365G>T (p.Gln8455His)
c.25311G>T (p.Gln8437His)
c.25308G>T (p.Gln8436His)
c.25296G>T (p.Gln8432His)
c.25239G>T (p.Gln8413His)
c.25227G>T (p.Gln8409His)
c.25224G>T (p.Gln8408His)
c.25221G>T (p.Gln8407His)
c.25377G>T (p.Gln8459His)
c.25215G>T (p.Gln8405His)
c.23655G>T (p.Gln7885His)
c.23148G>T (p.Gln7716His)
c.18615G>T (p.Gln6205His)
c.1881G>T (p.Gln627His)
c.25353G>T (p.Gln8451His)
c.25302G>T (p.Gln8434His)
c.25155G>T (p.Gln8385His)
6g.152140133C>GCA366080892SYNE1c.1809G>C (p.Gln603His)
c.25275G>C (p.Gln8425His)
c.25131G>C (p.Gln8377His)
c.677G>C
c.1010G>C
c.919G>C
c.1047G>C (p.Gln349His)
c.24060G>C (p.Gln8020His)
n.2023G>C
c.4110G>C (p.Gln1370His)
n.8967G>C
c.3213G>C (p.Gln1071His)
n.8859G>C
n.1889G>C
n.4297G>C
n.2112G>C
c.1740G>C (p.Gln580His)
c.25380G>C (p.Gln8460His)
c.25368G>C (p.Gln8456His)
c.25359G>C (p.Gln8453His)
c.25329G>C (p.Gln8443His)
c.25365G>C (p.Gln8455His)
c.25311G>C (p.Gln8437His)
c.25308G>C (p.Gln8436His)
c.25296G>C (p.Gln8432His)
c.25239G>C (p.Gln8413His)
c.25227G>C (p.Gln8409His)
c.25224G>C (p.Gln8408His)
c.25221G>C (p.Gln8407His)
c.25377G>C (p.Gln8459His)
c.25215G>C (p.Gln8405His)
c.23655G>C (p.Gln7885His)
c.23148G>C (p.Gln7716His)
c.18615G>C (p.Gln6205His)
c.1881G>C (p.Gln627His)
c.25353G>C (p.Gln8451His)
c.25302G>C (p.Gln8434His)
c.25155G>C (p.Gln8385His)
6g.152140133C>TCA452969964SYNE1c.1809G>A (p.Gln603=)
c.25275G>A (p.Gln8425=)
c.25131G>A (p.Gln8377=)
c.677G>A
c.1010G>A
c.919G>A
c.1047G>A (p.Gln349=)
c.24060G>A (p.Gln8020=)
n.2023G>A
c.4110G>A (p.Gln1370=)
n.8967G>A
c.3213G>A (p.Gln1071=)
n.8859G>A
n.1889G>A
n.4297G>A
n.2112G>A
c.1740G>A (p.Gln580=)
c.25380G>A (p.Gln8460=)
c.25368G>A (p.Gln8456=)
c.25359G>A (p.Gln8453=)
c.25329G>A (p.Gln8443=)
c.25365G>A (p.Gln8455=)
c.25311G>A (p.Gln8437=)
c.25308G>A (p.Gln8436=)
c.25296G>A (p.Gln8432=)
c.25239G>A (p.Gln8413=)
c.25227G>A (p.Gln8409=)
c.25224G>A (p.Gln8408=)
c.25221G>A (p.Gln8407=)
c.25377G>A (p.Gln8459=)
c.25215G>A (p.Gln8405=)
c.23655G>A (p.Gln7885=)
c.23148G>A (p.Gln7716=)
c.18615G>A (p.Gln6205=)
c.1881G>A (p.Gln627=)
c.25353G>A (p.Gln8451=)
c.25302G>A (p.Gln8434=)
c.25155G>A (p.Gln8385=)
 gnomAD v4
6g.152140134T>ACA150165637SYNE1c.1808A>T (p.Gln603Leu)
c.25274A>T (p.Gln8425Leu)
c.25130A>T (p.Gln8377Leu)
c.676A>T
c.1009A>T
c.918A>T
c.1046A>T (p.Gln349Leu)
c.24059A>T (p.Gln8020Leu)
n.2022A>T
c.4109A>T (p.Gln1370Leu)
n.8966A>T
c.3212A>T (p.Gln1071Leu)
n.8858A>T
n.1888A>T
n.4296A>T
n.2111A>T
c.1739A>T (p.Gln580Leu)
c.25379A>T (p.Gln8460Leu)
c.25367A>T (p.Gln8456Leu)
c.25358A>T (p.Gln8453Leu)
c.25328A>T (p.Gln8443Leu)
c.25364A>T (p.Gln8455Leu)
c.25310A>T (p.Gln8437Leu)
c.25307A>T (p.Gln8436Leu)
c.25295A>T (p.Gln8432Leu)
c.25238A>T (p.Gln8413Leu)
c.25226A>T (p.Gln8409Leu)
c.25223A>T (p.Gln8408Leu)
c.25220A>T (p.Gln8407Leu)
c.25376A>T (p.Gln8459Leu)
c.25214A>T (p.Gln8405Leu)
c.23654A>T (p.Gln7885Leu)
c.23147A>T (p.Gln7716Leu)
c.18614A>T (p.Gln6205Leu)
c.1880A>T (p.Gln627Leu)
c.25352A>T (p.Gln8451Leu)
c.25301A>T (p.Gln8434Leu)
c.25154A>T (p.Gln8385Leu)
 dbSNP
6g.152140134T>CCA366080895SYNE1c.1808A>G (p.Gln603Arg)
c.25274A>G (p.Gln8425Arg)
c.25130A>G (p.Gln8377Arg)
c.676A>G
c.1009A>G
c.918A>G
c.1046A>G (p.Gln349Arg)
c.24059A>G (p.Gln8020Arg)
n.2022A>G
c.4109A>G (p.Gln1370Arg)
n.8966A>G
c.3212A>G (p.Gln1071Arg)
n.8858A>G
n.1888A>G
n.4296A>G
n.2111A>G
c.1739A>G (p.Gln580Arg)
c.25379A>G (p.Gln8460Arg)
c.25367A>G (p.Gln8456Arg)
c.25358A>G (p.Gln8453Arg)
c.25328A>G (p.Gln8443Arg)
c.25364A>G (p.Gln8455Arg)
c.25310A>G (p.Gln8437Arg)
c.25307A>G (p.Gln8436Arg)
c.25295A>G (p.Gln8432Arg)
c.25238A>G (p.Gln8413Arg)
c.25226A>G (p.Gln8409Arg)
c.25223A>G (p.Gln8408Arg)
c.25220A>G (p.Gln8407Arg)
c.25376A>G (p.Gln8459Arg)
c.25214A>G (p.Gln8405Arg)
c.23654A>G (p.Gln7885Arg)
c.23147A>G (p.Gln7716Arg)
c.18614A>G (p.Gln6205Arg)
c.1880A>G (p.Gln627Arg)
c.25352A>G (p.Gln8451Arg)
c.25301A>G (p.Gln8434Arg)
c.25154A>G (p.Gln8385Arg)
6g.152140134T>GCA366080897SYNE1c.1808A>C (p.Gln603Pro)
c.25274A>C (p.Gln8425Pro)
c.25130A>C (p.Gln8377Pro)
c.676A>C
c.1009A>C
c.918A>C
c.1046A>C (p.Gln349Pro)
c.24059A>C (p.Gln8020Pro)
n.2022A>C
c.4109A>C (p.Gln1370Pro)
n.8966A>C
c.3212A>C (p.Gln1071Pro)
n.8858A>C
n.1888A>C
n.4296A>C
n.2111A>C
c.1739A>C (p.Gln580Pro)
c.25379A>C (p.Gln8460Pro)
c.25367A>C (p.Gln8456Pro)
c.25358A>C (p.Gln8453Pro)
c.25328A>C (p.Gln8443Pro)
c.25364A>C (p.Gln8455Pro)
c.25310A>C (p.Gln8437Pro)
c.25307A>C (p.Gln8436Pro)
c.25295A>C (p.Gln8432Pro)
c.25238A>C (p.Gln8413Pro)
c.25226A>C (p.Gln8409Pro)
c.25223A>C (p.Gln8408Pro)
c.25220A>C (p.Gln8407Pro)
c.25376A>C (p.Gln8459Pro)
c.25214A>C (p.Gln8405Pro)
c.23654A>C (p.Gln7885Pro)
c.23147A>C (p.Gln7716Pro)
c.18614A>C (p.Gln6205Pro)
c.1880A>C (p.Gln627Pro)
c.25352A>C (p.Gln8451Pro)
c.25301A>C (p.Gln8434Pro)
c.25154A>C (p.Gln8385Pro)
6g.152140134T=CA1673206415SYNE1c.1808A= (p.Gln603=)
c.25274A= (p.Gln8425=)
c.25130A= (p.Gln8377=)
c.676A=
c.1009A=
c.918A=
c.1046A= (p.Gln349=)
c.24059A= (p.Gln8020=)
n.2022A=
c.4109A= (p.Gln1370=)
n.8966A=
c.3212A= (p.Gln1071=)
n.8858A=
n.1888A=
n.4296A=
n.2111A=
c.1739A= (p.Gln580=)
c.25379A= (p.Gln8460=)
c.25367A= (p.Gln8456=)
c.25358A= (p.Gln8453=)
c.25328A= (p.Gln8443=)
c.25364A= (p.Gln8455=)
c.25310A= (p.Gln8437=)
c.25307A= (p.Gln8436=)
c.25295A= (p.Gln8432=)
c.25238A= (p.Gln8413=)
c.25226A= (p.Gln8409=)
c.25223A= (p.Gln8408=)
c.25220A= (p.Gln8407=)
c.25376A= (p.Gln8459=)
c.25214A= (p.Gln8405=)
c.23654A= (p.Gln7885=)
c.23147A= (p.Gln7716=)
c.18614A= (p.Gln6205=)
c.1880A= (p.Gln627=)
c.25352A= (p.Gln8451=)
c.25301A= (p.Gln8434=)
c.25154A= (p.Gln8385=)
6g.152140134_152140136delinsTGGCA1673206414SYNE1c.1806_1808delinsCCA (p.Leu602=)
c.25272_25274delinsCCA (p.Leu8424=)
c.25128_25130delinsCCA (p.Leu8376=)
c.674_676delinsCCA
c.1007_1009delinsCCA
c.916_918delinsCCA
c.1044_1046delinsCCA (p.Leu348=)
c.24057_24059delinsCCA (p.Leu8019=)
n.2020_2022delinsCCA
c.4107_4109delinsCCA (p.Leu1369=)
n.8964_8966delinsCCA
c.3210_3212delinsCCA (p.Leu1070=)
n.8856_8858delinsCCA
n.1886_1888delinsCCA
n.4294_4296delinsCCA
n.2109_2111delinsCCA
c.1737_1739delinsCCA (p.Leu579=)
c.25377_25379delinsCCA (p.Leu8459=)
c.25365_25367delinsCCA (p.Leu8455=)
c.25356_25358delinsCCA (p.Leu8452=)
c.25326_25328delinsCCA (p.Leu8442=)
c.25362_25364delinsCCA (p.Leu8454=)
c.25308_25310delinsCCA (p.Leu8436=)
c.25305_25307delinsCCA (p.Leu8435=)
c.25293_25295delinsCCA (p.Leu8431=)
c.25236_25238delinsCCA (p.Leu8412=)
c.25224_25226delinsCCA (p.Leu8408=)
c.25221_25223delinsCCA (p.Leu8407=)
c.25218_25220delinsCCA (p.Leu8406=)
c.25374_25376delinsCCA (p.Leu8458=)
c.25212_25214delinsCCA (p.Leu8404=)
c.23652_23654delinsCCA (p.Leu7884=)
c.23145_23147delinsCCA (p.Leu7715=)
c.18612_18614delinsCCA (p.Leu6204=)
c.1878_1880delinsCCA (p.Leu626=)
c.25350_25352delinsCCA (p.Leu8450=)
c.25299_25301delinsCCA (p.Leu8433=)
c.25152_25154delinsCCA (p.Leu8384=)
6g.152140135G>ACA150165638SYNE1c.1807C>T (p.Gln603Ter)
c.25273C>T (p.Gln8425Ter)
c.25129C>T (p.Gln8377Ter)
c.675C>T
c.1008C>T
c.917C>T
c.1045C>T (p.Gln349Ter)
c.24058C>T (p.Gln8020Ter)
n.2021C>T
c.4108C>T (p.Gln1370Ter)
n.8965C>T
c.3211C>T (p.Gln1071Ter)
n.8857C>T
n.1887C>T
n.4295C>T
n.2110C>T
c.1738C>T (p.Gln580Ter)
c.25378C>T (p.Gln8460Ter)
c.25366C>T (p.Gln8456Ter)
c.25357C>T (p.Gln8453Ter)
c.25327C>T (p.Gln8443Ter)
c.25363C>T (p.Gln8455Ter)
c.25309C>T (p.Gln8437Ter)
c.25306C>T (p.Gln8436Ter)
c.25294C>T (p.Gln8432Ter)
c.25237C>T (p.Gln8413Ter)
c.25225C>T (p.Gln8409Ter)
c.25222C>T (p.Gln8408Ter)
c.25219C>T (p.Gln8407Ter)
c.25375C>T (p.Gln8459Ter)
c.25213C>T (p.Gln8405Ter)
c.23653C>T (p.Gln7885Ter)
c.23146C>T (p.Gln7716Ter)
c.18613C>T (p.Gln6205Ter)
c.1879C>T (p.Gln627Ter)
c.25351C>T (p.Gln8451Ter)
c.25300C>T (p.Gln8434Ter)
c.25153C>T (p.Gln8385Ter)
 dbSNP
6g.152140135G>CCA366080903SYNE1c.1807C>G (p.Gln603Glu)
c.25273C>G (p.Gln8425Glu)
c.25129C>G (p.Gln8377Glu)
c.675C>G
c.1008C>G
c.917C>G
c.1045C>G (p.Gln349Glu)
c.24058C>G (p.Gln8020Glu)
n.2021C>G
c.4108C>G (p.Gln1370Glu)
n.8965C>G
c.3211C>G (p.Gln1071Glu)
n.8857C>G
n.1887C>G
n.4295C>G
n.2110C>G
c.1738C>G (p.Gln580Glu)
c.25378C>G (p.Gln8460Glu)
c.25366C>G (p.Gln8456Glu)
c.25357C>G (p.Gln8453Glu)
c.25327C>G (p.Gln8443Glu)
c.25363C>G (p.Gln8455Glu)
c.25309C>G (p.Gln8437Glu)
c.25306C>G (p.Gln8436Glu)
c.25294C>G (p.Gln8432Glu)
c.25237C>G (p.Gln8413Glu)
c.25225C>G (p.Gln8409Glu)
c.25222C>G (p.Gln8408Glu)
c.25219C>G (p.Gln8407Glu)
c.25375C>G (p.Gln8459Glu)
c.25213C>G (p.Gln8405Glu)
c.23653C>G (p.Gln7885Glu)
c.23146C>G (p.Gln7716Glu)
c.18613C>G (p.Gln6205Glu)
c.1879C>G (p.Gln627Glu)
c.25351C>G (p.Gln8451Glu)
c.25300C>G (p.Gln8434Glu)
c.25153C>G (p.Gln8385Glu)
6g.152140135G=CA1673206421SYNE1c.1807C= (p.Gln603=)
c.25273C= (p.Gln8425=)
c.25129C= (p.Gln8377=)
c.675C=
c.1008C=
c.917C=
c.1045C= (p.Gln349=)
c.24058C= (p.Gln8020=)
n.2021C=
c.4108C= (p.Gln1370=)
n.8965C=
c.3211C= (p.Gln1071=)
n.8857C=
n.1887C=
n.4295C=
n.2110C=
c.1738C= (p.Gln580=)
c.25378C= (p.Gln8460=)
c.25366C= (p.Gln8456=)
c.25357C= (p.Gln8453=)
c.25327C= (p.Gln8443=)
c.25363C= (p.Gln8455=)
c.25309C= (p.Gln8437=)
c.25306C= (p.Gln8436=)
c.25294C= (p.Gln8432=)
c.25237C= (p.Gln8413=)
c.25225C= (p.Gln8409=)
c.25222C= (p.Gln8408=)
c.25219C= (p.Gln8407=)
c.25375C= (p.Gln8459=)
c.25213C= (p.Gln8405=)
c.23653C= (p.Gln7885=)
c.23146C= (p.Gln7716=)
c.18613C= (p.Gln6205=)
c.1879C= (p.Gln627=)
c.25351C= (p.Gln8451=)
c.25300C= (p.Gln8434=)
c.25153C= (p.Gln8385=)
6g.152140135G>TCA366080906SYNE1c.1807C>A (p.Gln603Lys)
c.25273C>A (p.Gln8425Lys)
c.25129C>A (p.Gln8377Lys)
c.675C>A
c.1008C>A
c.917C>A
c.1045C>A (p.Gln349Lys)
c.24058C>A (p.Gln8020Lys)
n.2021C>A
c.4108C>A (p.Gln1370Lys)
n.8965C>A
c.3211C>A (p.Gln1071Lys)
n.8857C>A
n.1887C>A
n.4295C>A
n.2110C>A
c.1738C>A (p.Gln580Lys)
c.25378C>A (p.Gln8460Lys)
c.25366C>A (p.Gln8456Lys)
c.25357C>A (p.Gln8453Lys)
c.25327C>A (p.Gln8443Lys)
c.25363C>A (p.Gln8455Lys)
c.25309C>A (p.Gln8437Lys)
c.25306C>A (p.Gln8436Lys)
c.25294C>A (p.Gln8432Lys)
c.25237C>A (p.Gln8413Lys)
c.25225C>A (p.Gln8409Lys)
c.25222C>A (p.Gln8408Lys)
c.25219C>A (p.Gln8407Lys)
c.25375C>A (p.Gln8459Lys)
c.25213C>A (p.Gln8405Lys)
c.23653C>A (p.Gln7885Lys)
c.23146C>A (p.Gln7716Lys)
c.18613C>A (p.Gln6205Lys)
c.1879C>A (p.Gln627Lys)
c.25351C>A (p.Gln8451Lys)
c.25300C>A (p.Gln8434Lys)
c.25153C>A (p.Gln8385Lys)
6g.152140135_152140136delCA820866531SYNE1c.1806_1807del (p.Gln603GlyfsTer21)
c.25272_25273del (p.Gln8425GlyfsTer21)
c.25128_25129del (p.Gln8377GlyfsTer21)
c.674_675del
c.1007_1008del
c.916_917del
c.1044_1045del (p.Gln349GlyfsTer21)
c.24057_24058del (p.Gln8020GlyfsTer21)
n.2020_2021del
c.4107_4108del (p.Gln1370GlyfsTer21)
n.8964_8965del
c.3210_3211del (p.Gln1071GlyfsTer21)
n.8856_8857del
n.1886_1887del
n.4294_4295del
n.2109_2110del
c.1737_1738del (p.Gln580GlyfsTer21)
c.25377_25378del (p.Gln8460GlyfsTer21)
c.25365_25366del (p.Gln8456GlyfsTer21)
c.25356_25357del (p.Gln8453GlyfsTer21)
c.25326_25327del (p.Gln8443GlyfsTer21)
c.25362_25363del (p.Gln8455GlyfsTer21)
c.25308_25309del (p.Gln8437GlyfsTer21)
c.25305_25306del (p.Gln8436GlyfsTer21)
c.25293_25294del (p.Gln8432GlyfsTer21)
c.25236_25237del (p.Gln8413GlyfsTer21)
c.25224_25225del (p.Gln8409GlyfsTer21)
c.25221_25222del (p.Gln8408GlyfsTer21)
c.25218_25219del (p.Gln8407GlyfsTer21)
c.25374_25375del (p.Gln8459GlyfsTer21)
c.25212_25213del (p.Gln8405GlyfsTer21)
c.23652_23653del (p.Gln7885GlyfsTer21)
c.23145_23146del (p.Gln7716GlyfsTer21)
c.18612_18613del (p.Gln6205GlyfsTer21)
c.1878_1879del (p.Gln627GlyfsTer21)
c.25350_25351del (p.Gln8451GlyfsTer21)
c.25299_25300del (p.Gln8434GlyfsTer21)
c.25152_25153del (p.Gln8385GlyfsTer21)
 dbSNP
6g.152140135_152140137delinsTCA1139771276SYNE1c.1805_1807delinsA (p.Leu602GlnfsTer22)
c.25271_25273delinsA (p.Leu8424GlnfsTer22)
c.25127_25129delinsA (p.Leu8376GlnfsTer22)
c.673_675delinsA
c.1006_1008delinsA
c.915_917delinsA
c.1043_1045delinsA (p.Leu348GlnfsTer22)
c.24056_24058delinsA (p.Leu8019GlnfsTer22)
n.2019_2021delinsA
c.4106_4108delinsA (p.Leu1369GlnfsTer22)
n.8963_8965delinsA
c.3209_3211delinsA (p.Leu1070GlnfsTer22)
n.8855_8857delinsA
n.1885_1887delinsA
n.4293_4295delinsA
n.2108_2110delinsA
c.1736_1738delinsA (p.Leu579GlnfsTer22)
c.25376_25378delinsA (p.Leu8459GlnfsTer22)
c.25364_25366delinsA (p.Leu8455GlnfsTer22)
c.25355_25357delinsA (p.Leu8452GlnfsTer22)
c.25325_25327delinsA (p.Leu8442GlnfsTer22)
c.25361_25363delinsA (p.Leu8454GlnfsTer22)
c.25307_25309delinsA (p.Leu8436GlnfsTer22)
c.25304_25306delinsA (p.Leu8435GlnfsTer22)
c.25292_25294delinsA (p.Leu8431GlnfsTer22)
c.25235_25237delinsA (p.Leu8412GlnfsTer22)
c.25223_25225delinsA (p.Leu8408GlnfsTer22)
c.25220_25222delinsA (p.Leu8407GlnfsTer22)
c.25217_25219delinsA (p.Leu8406GlnfsTer22)
c.25373_25375delinsA (p.Leu8458GlnfsTer22)
c.25211_25213delinsA (p.Leu8404GlnfsTer22)
c.23651_23653delinsA (p.Leu7884GlnfsTer22)
c.23144_23146delinsA (p.Leu7715GlnfsTer22)
c.18611_18613delinsA (p.Leu6204GlnfsTer22)
c.1877_1879delinsA (p.Leu626GlnfsTer22)
c.25349_25351delinsA (p.Leu8450GlnfsTer22)
c.25298_25300delinsA (p.Leu8433GlnfsTer22)
c.25151_25153delinsA (p.Leu8384GlnfsTer22)
6g.152140136G>ACA452969965SYNE1c.1806C>T (p.Leu602=)
c.25272C>T (p.Leu8424=)
c.25128C>T (p.Leu8376=)
c.674C>T
c.1007C>T
c.916C>T
c.1044C>T (p.Leu348=)
c.24057C>T (p.Leu8019=)
n.2020C>T
c.4107C>T (p.Leu1369=)
n.8964C>T
c.3210C>T (p.Leu1070=)
n.8856C>T
n.1886C>T
n.4294C>T
n.2109C>T
c.1737C>T (p.Leu579=)
c.25377C>T (p.Leu8459=)
c.25365C>T (p.Leu8455=)
c.25356C>T (p.Leu8452=)
c.25326C>T (p.Leu8442=)
c.25362C>T (p.Leu8454=)
c.25308C>T (p.Leu8436=)
c.25305C>T (p.Leu8435=)
c.25293C>T (p.Leu8431=)
c.25236C>T (p.Leu8412=)
c.25224C>T (p.Leu8408=)
c.25221C>T (p.Leu8407=)
c.25218C>T (p.Leu8406=)
c.25374C>T (p.Leu8458=)
c.25212C>T (p.Leu8404=)
c.23652C>T (p.Leu7884=)
c.23145C>T (p.Leu7715=)
c.18612C>T (p.Leu6204=)
c.1878C>T (p.Leu626=)
c.25350C>T (p.Leu8450=)
c.25299C>T (p.Leu8433=)
c.25152C>T (p.Leu8384=)
 dbSNP gnomAD v4
6g.152140136G>CCA452969966SYNE1c.1806C>G (p.Leu602=)
c.25272C>G (p.Leu8424=)
c.25128C>G (p.Leu8376=)
c.674C>G
c.1007C>G
c.916C>G
c.1044C>G (p.Leu348=)
c.24057C>G (p.Leu8019=)
n.2020C>G
c.4107C>G (p.Leu1369=)
n.8964C>G
c.3210C>G (p.Leu1070=)
n.8856C>G
n.1886C>G
n.4294C>G
n.2109C>G
c.1737C>G (p.Leu579=)
c.25377C>G (p.Leu8459=)
c.25365C>G (p.Leu8455=)
c.25356C>G (p.Leu8452=)
c.25326C>G (p.Leu8442=)
c.25362C>G (p.Leu8454=)
c.25308C>G (p.Leu8436=)
c.25305C>G (p.Leu8435=)
c.25293C>G (p.Leu8431=)
c.25236C>G (p.Leu8412=)
c.25224C>G (p.Leu8408=)
c.25221C>G (p.Leu8407=)
c.25218C>G (p.Leu8406=)
c.25374C>G (p.Leu8458=)
c.25212C>G (p.Leu8404=)
c.23652C>G (p.Leu7884=)
c.23145C>G (p.Leu7715=)
c.18612C>G (p.Leu6204=)
c.1878C>G (p.Leu626=)
c.25350C>G (p.Leu8450=)
c.25299C>G (p.Leu8433=)
c.25152C>G (p.Leu8384=)
 gnomAD v4
6g.152140136G=CA1673206427SYNE1c.1806C= (p.Leu602=)
c.25272C= (p.Leu8424=)
c.25128C= (p.Leu8376=)
c.674C=
c.1007C=
c.916C=
c.1044C= (p.Leu348=)
c.24057C= (p.Leu8019=)
n.2020C=
c.4107C= (p.Leu1369=)
n.8964C=
c.3210C= (p.Leu1070=)
n.8856C=
n.1886C=
n.4294C=
n.2109C=
c.1737C= (p.Leu579=)
c.25377C= (p.Leu8459=)
c.25365C= (p.Leu8455=)
c.25356C= (p.Leu8452=)
c.25326C= (p.Leu8442=)
c.25362C= (p.Leu8454=)
c.25308C= (p.Leu8436=)
c.25305C= (p.Leu8435=)
c.25293C= (p.Leu8431=)
c.25236C= (p.Leu8412=)
c.25224C= (p.Leu8408=)
c.25221C= (p.Leu8407=)
c.25218C= (p.Leu8406=)
c.25374C= (p.Leu8458=)
c.25212C= (p.Leu8404=)
c.23652C= (p.Leu7884=)
c.23145C= (p.Leu7715=)
c.18612C= (p.Leu6204=)
c.1878C= (p.Leu626=)
c.25350C= (p.Leu8450=)
c.25299C= (p.Leu8433=)
c.25152C= (p.Leu8384=)
6g.152140136G>TCA452969967SYNE1c.1806C>A (p.Leu602=)
c.25272C>A (p.Leu8424=)
c.25128C>A (p.Leu8376=)
c.674C>A
c.1007C>A
c.916C>A
c.1044C>A (p.Leu348=)
c.24057C>A (p.Leu8019=)
n.2020C>A
c.4107C>A (p.Leu1369=)
n.8964C>A
c.3210C>A (p.Leu1070=)
n.8856C>A
n.1886C>A
n.4294C>A
n.2109C>A
c.1737C>A (p.Leu579=)
c.25377C>A (p.Leu8459=)
c.25365C>A (p.Leu8455=)
c.25356C>A (p.Leu8452=)
c.25326C>A (p.Leu8442=)
c.25362C>A (p.Leu8454=)
c.25308C>A (p.Leu8436=)
c.25305C>A (p.Leu8435=)
c.25293C>A (p.Leu8431=)
c.25236C>A (p.Leu8412=)
c.25224C>A (p.Leu8408=)
c.25221C>A (p.Leu8407=)
c.25218C>A (p.Leu8406=)
c.25374C>A (p.Leu8458=)
c.25212C>A (p.Leu8404=)
c.23652C>A (p.Leu7884=)
c.23145C>A (p.Leu7715=)
c.18612C>A (p.Leu6204=)
c.1878C>A (p.Leu626=)
c.25350C>A (p.Leu8450=)
c.25299C>A (p.Leu8433=)
c.25152C>A (p.Leu8384=)
6g.152140137A>CCA366080922SYNE1c.1805T>G (p.Leu602Arg)
c.25271T>G (p.Leu8424Arg)
c.25127T>G (p.Leu8376Arg)
c.673T>G
c.1006T>G
c.915T>G
c.1043T>G (p.Leu348Arg)
c.24056T>G (p.Leu8019Arg)
n.2019T>G
c.4106T>G (p.Leu1369Arg)
n.8963T>G
c.3209T>G (p.Leu1070Arg)
n.8855T>G
n.1885T>G
n.4293T>G
n.2108T>G
c.1736T>G (p.Leu579Arg)
c.25376T>G (p.Leu8459Arg)
c.25364T>G (p.Leu8455Arg)
c.25355T>G (p.Leu8452Arg)
c.25325T>G (p.Leu8442Arg)
c.25361T>G (p.Leu8454Arg)
c.25307T>G (p.Leu8436Arg)
c.25304T>G (p.Leu8435Arg)
c.25292T>G (p.Leu8431Arg)
c.25235T>G (p.Leu8412Arg)
c.25223T>G (p.Leu8408Arg)
c.25220T>G (p.Leu8407Arg)
c.25217T>G (p.Leu8406Arg)
c.25373T>G (p.Leu8458Arg)
c.25211T>G (p.Leu8404Arg)
c.23651T>G (p.Leu7884Arg)
c.23144T>G (p.Leu7715Arg)
c.18611T>G (p.Leu6204Arg)
c.1877T>G (p.Leu626Arg)
c.25349T>G (p.Leu8450Arg)
c.25298T>G (p.Leu8433Arg)
c.25151T>G (p.Leu8384Arg)
6g.152140137A>GCA366080910SYNE1c.1805T>C (p.Leu602Pro)
c.25271T>C (p.Leu8424Pro)
c.25127T>C (p.Leu8376Pro)
c.673T>C
c.1006T>C
c.915T>C
c.1043T>C (p.Leu348Pro)
c.24056T>C (p.Leu8019Pro)
n.2019T>C
c.4106T>C (p.Leu1369Pro)
n.8963T>C
c.3209T>C (p.Leu1070Pro)
n.8855T>C
n.1885T>C
n.4293T>C
n.2108T>C
c.1736T>C (p.Leu579Pro)
c.25376T>C (p.Leu8459Pro)
c.25364T>C (p.Leu8455Pro)
c.25355T>C (p.Leu8452Pro)
c.25325T>C (p.Leu8442Pro)
c.25361T>C (p.Leu8454Pro)
c.25307T>C (p.Leu8436Pro)
c.25304T>C (p.Leu8435Pro)
c.25292T>C (p.Leu8431Pro)
c.25235T>C (p.Leu8412Pro)
c.25223T>C (p.Leu8408Pro)
c.25220T>C (p.Leu8407Pro)
c.25217T>C (p.Leu8406Pro)
c.25373T>C (p.Leu8458Pro)
c.25211T>C (p.Leu8404Pro)
c.23651T>C (p.Leu7884Pro)
c.23144T>C (p.Leu7715Pro)
c.18611T>C (p.Leu6204Pro)
c.1877T>C (p.Leu626Pro)
c.25349T>C (p.Leu8450Pro)
c.25298T>C (p.Leu8433Pro)
c.25151T>C (p.Leu8384Pro)
6g.152140137A>TCA366080913SYNE1c.1805T>A (p.Leu602His)
c.25271T>A (p.Leu8424His)
c.25127T>A (p.Leu8376His)
c.673T>A
c.1006T>A
c.915T>A
c.1043T>A (p.Leu348His)
c.24056T>A (p.Leu8019His)
n.2019T>A
c.4106T>A (p.Leu1369His)
n.8963T>A
c.3209T>A (p.Leu1070His)
n.8855T>A
n.1885T>A
n.4293T>A
n.2108T>A
c.1736T>A (p.Leu579His)
c.25376T>A (p.Leu8459His)
c.25364T>A (p.Leu8455His)
c.25355T>A (p.Leu8452His)
c.25325T>A (p.Leu8442His)
c.25361T>A (p.Leu8454His)
c.25307T>A (p.Leu8436His)
c.25304T>A (p.Leu8435His)
c.25292T>A (p.Leu8431His)
c.25235T>A (p.Leu8412His)
c.25223T>A (p.Leu8408His)
c.25220T>A (p.Leu8407His)
c.25217T>A (p.Leu8406His)
c.25373T>A (p.Leu8458His)
c.25211T>A (p.Leu8404His)
c.23651T>A (p.Leu7884His)
c.23144T>A (p.Leu7715His)
c.18611T>A (p.Leu6204His)
c.1877T>A (p.Leu626His)
c.25349T>A (p.Leu8450His)
c.25298T>A (p.Leu8433His)
c.25151T>A (p.Leu8384His)
6g.152140138G>ACA366080925SYNE1c.1804C>T (p.Leu602Phe)
c.25270C>T (p.Leu8424Phe)
c.25126C>T (p.Leu8376Phe)
c.672C>T
c.1005C>T
c.914C>T
c.1042C>T (p.Leu348Phe)
c.24055C>T (p.Leu8019Phe)
n.2018C>T
c.4105C>T (p.Leu1369Phe)
n.8962C>T
c.3208C>T (p.Leu1070Phe)
n.8854C>T
n.1884C>T
n.4292C>T
n.2107C>T
c.1735C>T (p.Leu579Phe)
c.25375C>T (p.Leu8459Phe)
c.25363C>T (p.Leu8455Phe)
c.25354C>T (p.Leu8452Phe)
c.25324C>T (p.Leu8442Phe)
c.25360C>T (p.Leu8454Phe)
c.25306C>T (p.Leu8436Phe)
c.25303C>T (p.Leu8435Phe)
c.25291C>T (p.Leu8431Phe)
c.25234C>T (p.Leu8412Phe)
c.25222C>T (p.Leu8408Phe)
c.25219C>T (p.Leu8407Phe)
c.25216C>T (p.Leu8406Phe)
c.25372C>T (p.Leu8458Phe)
c.25210C>T (p.Leu8404Phe)
c.23650C>T (p.Leu7884Phe)
c.23143C>T (p.Leu7715Phe)
c.18610C>T (p.Leu6204Phe)
c.1876C>T (p.Leu626Phe)
c.25348C>T (p.Leu8450Phe)
c.25297C>T (p.Leu8433Phe)
c.25150C>T (p.Leu8384Phe)
6g.152140138G>CCA366080927SYNE1c.1804C>G (p.Leu602Val)
c.25270C>G (p.Leu8424Val)
c.25126C>G (p.Leu8376Val)
c.672C>G
c.1005C>G
c.914C>G
c.1042C>G (p.Leu348Val)
c.24055C>G (p.Leu8019Val)
n.2018C>G
c.4105C>G (p.Leu1369Val)
n.8962C>G
c.3208C>G (p.Leu1070Val)
n.8854C>G
n.1884C>G
n.4292C>G
n.2107C>G
c.1735C>G (p.Leu579Val)
c.25375C>G (p.Leu8459Val)
c.25363C>G (p.Leu8455Val)
c.25354C>G (p.Leu8452Val)
c.25324C>G (p.Leu8442Val)
c.25360C>G (p.Leu8454Val)
c.25306C>G (p.Leu8436Val)
c.25303C>G (p.Leu8435Val)
c.25291C>G (p.Leu8431Val)
c.25234C>G (p.Leu8412Val)
c.25222C>G (p.Leu8408Val)
c.25219C>G (p.Leu8407Val)
c.25216C>G (p.Leu8406Val)
c.25372C>G (p.Leu8458Val)
c.25210C>G (p.Leu8404Val)
c.23650C>G (p.Leu7884Val)
c.23143C>G (p.Leu7715Val)
c.18610C>G (p.Leu6204Val)
c.1876C>G (p.Leu626Val)
c.25348C>G (p.Leu8450Val)
c.25297C>G (p.Leu8433Val)
c.25150C>G (p.Leu8384Val)
6g.152140138G>TCA366080928SYNE1c.1804C>A (p.Leu602Ile)
c.25270C>A (p.Leu8424Ile)
c.25126C>A (p.Leu8376Ile)
c.672C>A
c.1005C>A
c.914C>A
c.1042C>A (p.Leu348Ile)
c.24055C>A (p.Leu8019Ile)
n.2018C>A
c.4105C>A (p.Leu1369Ile)
n.8962C>A
c.3208C>A (p.Leu1070Ile)
n.8854C>A
n.1884C>A
n.4292C>A
n.2107C>A
c.1735C>A (p.Leu579Ile)
c.25375C>A (p.Leu8459Ile)
c.25363C>A (p.Leu8455Ile)
c.25354C>A (p.Leu8452Ile)
c.25324C>A (p.Leu8442Ile)
c.25360C>A (p.Leu8454Ile)
c.25306C>A (p.Leu8436Ile)
c.25303C>A (p.Leu8435Ile)
c.25291C>A (p.Leu8431Ile)
c.25234C>A (p.Leu8412Ile)
c.25222C>A (p.Leu8408Ile)
c.25219C>A (p.Leu8407Ile)
c.25216C>A (p.Leu8406Ile)
c.25372C>A (p.Leu8458Ile)
c.25210C>A (p.Leu8404Ile)
c.23650C>A (p.Leu7884Ile)
c.23143C>A (p.Leu7715Ile)
c.18610C>A (p.Leu6204Ile)
c.1876C>A (p.Leu626Ile)
c.25348C>A (p.Leu8450Ile)
c.25297C>A (p.Leu8433Ile)
c.25150C>A (p.Leu8384Ile)
6g.152140139A=CA1673206430SYNE1c.1803T= (p.Leu601=)
c.25269T= (p.Leu8423=)
c.25125T= (p.Leu8375=)
c.671T=
c.1004T=
c.913T=
c.1041T= (p.Leu347=)
c.24054T= (p.Leu8018=)
n.2017T=
c.4104T= (p.Leu1368=)
n.8961T=
c.3207T= (p.Leu1069=)
n.8853T=
n.1883T=
n.4291T=
n.2106T=
c.1734T= (p.Leu578=)
c.25374T= (p.Leu8458=)
c.25362T= (p.Leu8454=)
c.25353T= (p.Leu8451=)
c.25323T= (p.Leu8441=)
c.25359T= (p.Leu8453=)
c.25305T= (p.Leu8435=)
c.25302T= (p.Leu8434=)
c.25290T= (p.Leu8430=)
c.25233T= (p.Leu8411=)
c.25221T= (p.Leu8407=)
c.25218T= (p.Leu8406=)
c.25215T= (p.Leu8405=)
c.25371T= (p.Leu8457=)
c.25209T= (p.Leu8403=)
c.23649T= (p.Leu7883=)
c.23142T= (p.Leu7714=)
c.18609T= (p.Leu6203=)
c.1875T= (p.Leu625=)
c.25347T= (p.Leu8449=)
c.25296T= (p.Leu8432=)
c.25149T= (p.Leu8383=)
6g.152140139A>CCA452969968SYNE1c.1803T>G (p.Leu601=)
c.25269T>G (p.Leu8423=)
c.25125T>G (p.Leu8375=)
c.671T>G
c.1004T>G
c.913T>G
c.1041T>G (p.Leu347=)
c.24054T>G (p.Leu8018=)
n.2017T>G
c.4104T>G (p.Leu1368=)
n.8961T>G
c.3207T>G (p.Leu1069=)
n.8853T>G
n.1883T>G
n.4291T>G
n.2106T>G
c.1734T>G (p.Leu578=)
c.25374T>G (p.Leu8458=)
c.25362T>G (p.Leu8454=)
c.25353T>G (p.Leu8451=)
c.25323T>G (p.Leu8441=)
c.25359T>G (p.Leu8453=)
c.25305T>G (p.Leu8435=)
c.25302T>G (p.Leu8434=)
c.25290T>G (p.Leu8430=)
c.25233T>G (p.Leu8411=)
c.25221T>G (p.Leu8407=)
c.25218T>G (p.Leu8406=)
c.25215T>G (p.Leu8405=)
c.25371T>G (p.Leu8457=)
c.25209T>G (p.Leu8403=)
c.23649T>G (p.Leu7883=)
c.23142T>G (p.Leu7714=)
c.18609T>G (p.Leu6203=)
c.1875T>G (p.Leu625=)
c.25347T>G (p.Leu8449=)
c.25296T>G (p.Leu8432=)
c.25149T>G (p.Leu8383=)
6g.152140139A>GCA452969969SYNE1c.1803T>C (p.Leu601=)
c.25269T>C (p.Leu8423=)
c.25125T>C (p.Leu8375=)
c.671T>C
c.1004T>C
c.913T>C
c.1041T>C (p.Leu347=)
c.24054T>C (p.Leu8018=)
n.2017T>C
c.4104T>C (p.Leu1368=)
n.8961T>C
c.3207T>C (p.Leu1069=)
n.8853T>C
n.1883T>C
n.4291T>C
n.2106T>C
c.1734T>C (p.Leu578=)
c.25374T>C (p.Leu8458=)
c.25362T>C (p.Leu8454=)
c.25353T>C (p.Leu8451=)
c.25323T>C (p.Leu8441=)
c.25359T>C (p.Leu8453=)
c.25305T>C (p.Leu8435=)
c.25302T>C (p.Leu8434=)
c.25290T>C (p.Leu8430=)
c.25233T>C (p.Leu8411=)
c.25221T>C (p.Leu8407=)
c.25218T>C (p.Leu8406=)
c.25215T>C (p.Leu8405=)
c.25371T>C (p.Leu8457=)
c.25209T>C (p.Leu8403=)
c.23649T>C (p.Leu7883=)
c.23142T>C (p.Leu7714=)
c.18609T>C (p.Leu6203=)
c.1875T>C (p.Leu625=)
c.25347T>C (p.Leu8449=)
c.25296T>C (p.Leu8432=)
c.25149T>C (p.Leu8383=)
6g.152140139A>TCA4052869SYNE1c.1803T>A (p.Leu601=)
c.25269T>A (p.Leu8423=)
c.25125T>A (p.Leu8375=)
c.671T>A
c.1004T>A
c.913T>A
c.1041T>A (p.Leu347=)
c.24054T>A (p.Leu8018=)
n.2017T>A
c.4104T>A (p.Leu1368=)
n.8961T>A
c.3207T>A (p.Leu1069=)
n.8853T>A
n.1883T>A
n.4291T>A
n.2106T>A
c.1734T>A (p.Leu578=)
c.25374T>A (p.Leu8458=)
c.25362T>A (p.Leu8454=)
c.25353T>A (p.Leu8451=)
c.25323T>A (p.Leu8441=)
c.25359T>A (p.Leu8453=)
c.25305T>A (p.Leu8435=)
c.25302T>A (p.Leu8434=)
c.25290T>A (p.Leu8430=)
c.25233T>A (p.Leu8411=)
c.25221T>A (p.Leu8407=)
c.25218T>A (p.Leu8406=)
c.25215T>A (p.Leu8405=)
c.25371T>A (p.Leu8457=)
c.25209T>A (p.Leu8403=)
c.23649T>A (p.Leu7883=)
c.23142T>A (p.Leu7714=)
c.18609T>A (p.Leu6203=)
c.1875T>A (p.Leu625=)
c.25347T>A (p.Leu8449=)
c.25296T>A (p.Leu8432=)
c.25149T>A (p.Leu8383=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140140A>CCA366080933SYNE1c.1802T>G (p.Leu601Arg)
c.25268T>G (p.Leu8423Arg)
c.25124T>G (p.Leu8375Arg)
c.670T>G
c.1003T>G
c.912T>G
c.1040T>G (p.Leu347Arg)
c.24053T>G (p.Leu8018Arg)
n.2016T>G
c.4103T>G (p.Leu1368Arg)
n.8960T>G
c.3206T>G (p.Leu1069Arg)
n.8852T>G
n.1882T>G
n.4290T>G
n.2105T>G
c.1733T>G (p.Leu578Arg)
c.25373T>G (p.Leu8458Arg)
c.25361T>G (p.Leu8454Arg)
c.25352T>G (p.Leu8451Arg)
c.25322T>G (p.Leu8441Arg)
c.25358T>G (p.Leu8453Arg)
c.25304T>G (p.Leu8435Arg)
c.25301T>G (p.Leu8434Arg)
c.25289T>G (p.Leu8430Arg)
c.25232T>G (p.Leu8411Arg)
c.25220T>G (p.Leu8407Arg)
c.25217T>G (p.Leu8406Arg)
c.25214T>G (p.Leu8405Arg)
c.25370T>G (p.Leu8457Arg)
c.25208T>G (p.Leu8403Arg)
c.23648T>G (p.Leu7883Arg)
c.23141T>G (p.Leu7714Arg)
c.18608T>G (p.Leu6203Arg)
c.1874T>G (p.Leu625Arg)
c.25346T>G (p.Leu8449Arg)
c.25295T>G (p.Leu8432Arg)
c.25148T>G (p.Leu8383Arg)
6g.152140140A>GCA366080935SYNE1c.1802T>C (p.Leu601Pro)
c.25268T>C (p.Leu8423Pro)
c.25124T>C (p.Leu8375Pro)
c.670T>C
c.1003T>C
c.912T>C
c.1040T>C (p.Leu347Pro)
c.24053T>C (p.Leu8018Pro)
n.2016T>C
c.4103T>C (p.Leu1368Pro)
n.8960T>C
c.3206T>C (p.Leu1069Pro)
n.8852T>C
n.1882T>C
n.4290T>C
n.2105T>C
c.1733T>C (p.Leu578Pro)
c.25373T>C (p.Leu8458Pro)
c.25361T>C (p.Leu8454Pro)
c.25352T>C (p.Leu8451Pro)
c.25322T>C (p.Leu8441Pro)
c.25358T>C (p.Leu8453Pro)
c.25304T>C (p.Leu8435Pro)
c.25301T>C (p.Leu8434Pro)
c.25289T>C (p.Leu8430Pro)
c.25232T>C (p.Leu8411Pro)
c.25220T>C (p.Leu8407Pro)
c.25217T>C (p.Leu8406Pro)
c.25214T>C (p.Leu8405Pro)
c.25370T>C (p.Leu8457Pro)
c.25208T>C (p.Leu8403Pro)
c.23648T>C (p.Leu7883Pro)
c.23141T>C (p.Leu7714Pro)
c.18608T>C (p.Leu6203Pro)
c.1874T>C (p.Leu625Pro)
c.25346T>C (p.Leu8449Pro)
c.25295T>C (p.Leu8432Pro)
c.25148T>C (p.Leu8383Pro)
6g.152140140A>TCA366080937SYNE1c.1802T>A (p.Leu601His)
c.25268T>A (p.Leu8423His)
c.25124T>A (p.Leu8375His)
c.670T>A
c.1003T>A
c.912T>A
c.1040T>A (p.Leu347His)
c.24053T>A (p.Leu8018His)
n.2016T>A
c.4103T>A (p.Leu1368His)
n.8960T>A
c.3206T>A (p.Leu1069His)
n.8852T>A
n.1882T>A
n.4290T>A
n.2105T>A
c.1733T>A (p.Leu578His)
c.25373T>A (p.Leu8458His)
c.25361T>A (p.Leu8454His)
c.25352T>A (p.Leu8451His)
c.25322T>A (p.Leu8441His)
c.25358T>A (p.Leu8453His)
c.25304T>A (p.Leu8435His)
c.25301T>A (p.Leu8434His)
c.25289T>A (p.Leu8430His)
c.25232T>A (p.Leu8411His)
c.25220T>A (p.Leu8407His)
c.25217T>A (p.Leu8406His)
c.25214T>A (p.Leu8405His)
c.25370T>A (p.Leu8457His)
c.25208T>A (p.Leu8403His)
c.23648T>A (p.Leu7883His)
c.23141T>A (p.Leu7714His)
c.18608T>A (p.Leu6203His)
c.1874T>A (p.Leu625His)
c.25346T>A (p.Leu8449His)
c.25295T>A (p.Leu8432His)
c.25148T>A (p.Leu8383His)
6g.152140141G>ACA4052870SYNE1c.1801C>T (p.Leu601Phe)
c.25267C>T (p.Leu8423Phe)
c.25123C>T (p.Leu8375Phe)
c.669C>T
c.1002C>T
c.911C>T
c.1039C>T (p.Leu347Phe)
c.24052C>T (p.Leu8018Phe)
n.2015C>T
c.4102C>T (p.Leu1368Phe)
n.8959C>T
c.3205C>T (p.Leu1069Phe)
n.8851C>T
n.1881C>T
n.4289C>T
n.2104C>T
c.1732C>T (p.Leu578Phe)
c.25372C>T (p.Leu8458Phe)
c.25360C>T (p.Leu8454Phe)
c.25351C>T (p.Leu8451Phe)
c.25321C>T (p.Leu8441Phe)
c.25357C>T (p.Leu8453Phe)
c.25303C>T (p.Leu8435Phe)
c.25300C>T (p.Leu8434Phe)
c.25288C>T (p.Leu8430Phe)
c.25231C>T (p.Leu8411Phe)
c.25219C>T (p.Leu8407Phe)
c.25216C>T (p.Leu8406Phe)
c.25213C>T (p.Leu8405Phe)
c.25369C>T (p.Leu8457Phe)
c.25207C>T (p.Leu8403Phe)
c.23647C>T (p.Leu7883Phe)
c.23140C>T (p.Leu7714Phe)
c.18607C>T (p.Leu6203Phe)
c.1873C>T (p.Leu625Phe)
c.25345C>T (p.Leu8449Phe)
c.25294C>T (p.Leu8432Phe)
c.25147C>T (p.Leu8383Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140141G>CCA366080941SYNE1c.1801C>G (p.Leu601Val)
c.25267C>G (p.Leu8423Val)
c.25123C>G (p.Leu8375Val)
c.669C>G
c.1002C>G
c.911C>G
c.1039C>G (p.Leu347Val)
c.24052C>G (p.Leu8018Val)
n.2015C>G
c.4102C>G (p.Leu1368Val)
n.8959C>G
c.3205C>G (p.Leu1069Val)
n.8851C>G
n.1881C>G
n.4289C>G
n.2104C>G
c.1732C>G (p.Leu578Val)
c.25372C>G (p.Leu8458Val)
c.25360C>G (p.Leu8454Val)
c.25351C>G (p.Leu8451Val)
c.25321C>G (p.Leu8441Val)
c.25357C>G (p.Leu8453Val)
c.25303C>G (p.Leu8435Val)
c.25300C>G (p.Leu8434Val)
c.25288C>G (p.Leu8430Val)
c.25231C>G (p.Leu8411Val)
c.25219C>G (p.Leu8407Val)
c.25216C>G (p.Leu8406Val)
c.25213C>G (p.Leu8405Val)
c.25369C>G (p.Leu8457Val)
c.25207C>G (p.Leu8403Val)
c.23647C>G (p.Leu7883Val)
c.23140C>G (p.Leu7714Val)
c.18607C>G (p.Leu6203Val)
c.1873C>G (p.Leu625Val)
c.25345C>G (p.Leu8449Val)
c.25294C>G (p.Leu8432Val)
c.25147C>G (p.Leu8383Val)
6g.152140141G=CA1673206434SYNE1c.1801C= (p.Leu601=)
c.25267C= (p.Leu8423=)
c.25123C= (p.Leu8375=)
c.669C=
c.1002C=
c.911C=
c.1039C= (p.Leu347=)
c.24052C= (p.Leu8018=)
n.2015C=
c.4102C= (p.Leu1368=)
n.8959C=
c.3205C= (p.Leu1069=)
n.8851C=
n.1881C=
n.4289C=
n.2104C=
c.1732C= (p.Leu578=)
c.25372C= (p.Leu8458=)
c.25360C= (p.Leu8454=)
c.25351C= (p.Leu8451=)
c.25321C= (p.Leu8441=)
c.25357C= (p.Leu8453=)
c.25303C= (p.Leu8435=)
c.25300C= (p.Leu8434=)
c.25288C= (p.Leu8430=)
c.25231C= (p.Leu8411=)
c.25219C= (p.Leu8407=)
c.25216C= (p.Leu8406=)
c.25213C= (p.Leu8405=)
c.25369C= (p.Leu8457=)
c.25207C= (p.Leu8403=)
c.23647C= (p.Leu7883=)
c.23140C= (p.Leu7714=)
c.18607C= (p.Leu6203=)
c.1873C= (p.Leu625=)
c.25345C= (p.Leu8449=)
c.25294C= (p.Leu8432=)
c.25147C= (p.Leu8383=)
6g.152140141G>TCA366080944SYNE1c.1801C>A (p.Leu601Ile)
c.25267C>A (p.Leu8423Ile)
c.25123C>A (p.Leu8375Ile)
c.669C>A
c.1002C>A
c.911C>A
c.1039C>A (p.Leu347Ile)
c.24052C>A (p.Leu8018Ile)
n.2015C>A
c.4102C>A (p.Leu1368Ile)
n.8959C>A
c.3205C>A (p.Leu1069Ile)
n.8851C>A
n.1881C>A
n.4289C>A
n.2104C>A
c.1732C>A (p.Leu578Ile)
c.25372C>A (p.Leu8458Ile)
c.25360C>A (p.Leu8454Ile)
c.25351C>A (p.Leu8451Ile)
c.25321C>A (p.Leu8441Ile)
c.25357C>A (p.Leu8453Ile)
c.25303C>A (p.Leu8435Ile)
c.25300C>A (p.Leu8434Ile)
c.25288C>A (p.Leu8430Ile)
c.25231C>A (p.Leu8411Ile)
c.25219C>A (p.Leu8407Ile)
c.25216C>A (p.Leu8406Ile)
c.25213C>A (p.Leu8405Ile)
c.25369C>A (p.Leu8457Ile)
c.25207C>A (p.Leu8403Ile)
c.23647C>A (p.Leu7883Ile)
c.23140C>A (p.Leu7714Ile)
c.18607C>A (p.Leu6203Ile)
c.1873C>A (p.Leu625Ile)
c.25345C>A (p.Leu8449Ile)
c.25294C>A (p.Leu8432Ile)
c.25147C>A (p.Leu8383Ile)
6g.152140142C>ACA366080948SYNE1c.1800G>T (p.Glu600Asp)
c.25266G>T (p.Glu8422Asp)
c.25122G>T (p.Glu8374Asp)
c.668G>T
c.1001G>T
c.910G>T
c.1038G>T (p.Glu346Asp)
c.24051G>T (p.Glu8017Asp)
n.2014G>T
c.4101G>T (p.Glu1367Asp)
n.8958G>T
c.3204G>T (p.Glu1068Asp)
n.8850G>T
n.1880G>T
n.4288G>T
n.2103G>T
c.1731G>T (p.Glu577Asp)
c.25371G>T (p.Glu8457Asp)
c.25359G>T (p.Glu8453Asp)
c.25350G>T (p.Glu8450Asp)
c.25320G>T (p.Glu8440Asp)
c.25356G>T (p.Glu8452Asp)
c.25302G>T (p.Glu8434Asp)
c.25299G>T (p.Glu8433Asp)
c.25287G>T (p.Glu8429Asp)
c.25230G>T (p.Glu8410Asp)
c.25218G>T (p.Glu8406Asp)
c.25215G>T (p.Glu8405Asp)
c.25212G>T (p.Glu8404Asp)
c.25368G>T (p.Glu8456Asp)
c.25206G>T (p.Glu8402Asp)
c.23646G>T (p.Glu7882Asp)
c.23139G>T (p.Glu7713Asp)
c.18606G>T (p.Glu6202Asp)
c.1872G>T (p.Glu624Asp)
c.25344G>T (p.Glu8448Asp)
c.25293G>T (p.Glu8431Asp)
c.25146G>T (p.Glu8382Asp)
6g.152140142C>GCA366080950SYNE1c.1800G>C (p.Glu600Asp)
c.25266G>C (p.Glu8422Asp)
c.25122G>C (p.Glu8374Asp)
c.668G>C
c.1001G>C
c.910G>C
c.1038G>C (p.Glu346Asp)
c.24051G>C (p.Glu8017Asp)
n.2014G>C
c.4101G>C (p.Glu1367Asp)
n.8958G>C
c.3204G>C (p.Glu1068Asp)
n.8850G>C
n.1880G>C
n.4288G>C
n.2103G>C
c.1731G>C (p.Glu577Asp)
c.25371G>C (p.Glu8457Asp)
c.25359G>C (p.Glu8453Asp)
c.25350G>C (p.Glu8450Asp)
c.25320G>C (p.Glu8440Asp)
c.25356G>C (p.Glu8452Asp)
c.25302G>C (p.Glu8434Asp)
c.25299G>C (p.Glu8433Asp)
c.25287G>C (p.Glu8429Asp)
c.25230G>C (p.Glu8410Asp)
c.25218G>C (p.Glu8406Asp)
c.25215G>C (p.Glu8405Asp)
c.25212G>C (p.Glu8404Asp)
c.25368G>C (p.Glu8456Asp)
c.25206G>C (p.Glu8402Asp)
c.23646G>C (p.Glu7882Asp)
c.23139G>C (p.Glu7713Asp)
c.18606G>C (p.Glu6202Asp)
c.1872G>C (p.Glu624Asp)
c.25344G>C (p.Glu8448Asp)
c.25293G>C (p.Glu8431Asp)
c.25146G>C (p.Glu8382Asp)
6g.152140142C>TCA452969970SYNE1c.1800G>A (p.Glu600=)
c.25266G>A (p.Glu8422=)
c.25122G>A (p.Glu8374=)
c.668G>A
c.1001G>A
c.910G>A
c.1038G>A (p.Glu346=)
c.24051G>A (p.Glu8017=)
n.2014G>A
c.4101G>A (p.Glu1367=)
n.8958G>A
c.3204G>A (p.Glu1068=)
n.8850G>A
n.1880G>A
n.4288G>A
n.2103G>A
c.1731G>A (p.Glu577=)
c.25371G>A (p.Glu8457=)
c.25359G>A (p.Glu8453=)
c.25350G>A (p.Glu8450=)
c.25320G>A (p.Glu8440=)
c.25356G>A (p.Glu8452=)
c.25302G>A (p.Glu8434=)
c.25299G>A (p.Glu8433=)
c.25287G>A (p.Glu8429=)
c.25230G>A (p.Glu8410=)
c.25218G>A (p.Glu8406=)
c.25215G>A (p.Glu8405=)
c.25212G>A (p.Glu8404=)
c.25368G>A (p.Glu8456=)
c.25206G>A (p.Glu8402=)
c.23646G>A (p.Glu7882=)
c.23139G>A (p.Glu7713=)
c.18606G>A (p.Glu6202=)
c.1872G>A (p.Glu624=)
c.25344G>A (p.Glu8448=)
c.25293G>A (p.Glu8431=)
c.25146G>A (p.Glu8382=)
6g.152140143T>ACA366080959SYNE1c.1799A>T (p.Glu600Val)
c.25265A>T (p.Glu8422Val)
c.25121A>T (p.Glu8374Val)
c.667A>T
c.1000A>T
c.909A>T
c.1037A>T (p.Glu346Val)
c.24050A>T (p.Glu8017Val)
n.2013A>T
c.4100A>T (p.Glu1367Val)
n.8957A>T
c.3203A>T (p.Glu1068Val)
n.8849A>T
n.1879A>T
n.4287A>T
n.2102A>T
c.1730A>T (p.Glu577Val)
c.25370A>T (p.Glu8457Val)
c.25358A>T (p.Glu8453Val)
c.25349A>T (p.Glu8450Val)
c.25319A>T (p.Glu8440Val)
c.25355A>T (p.Glu8452Val)
c.25301A>T (p.Glu8434Val)
c.25298A>T (p.Glu8433Val)
c.25286A>T (p.Glu8429Val)
c.25229A>T (p.Glu8410Val)
c.25217A>T (p.Glu8406Val)
c.25214A>T (p.Glu8405Val)
c.25211A>T (p.Glu8404Val)
c.25367A>T (p.Glu8456Val)
c.25205A>T (p.Glu8402Val)
c.23645A>T (p.Glu7882Val)
c.23138A>T (p.Glu7713Val)
c.18605A>T (p.Glu6202Val)
c.1871A>T (p.Glu624Val)
c.25343A>T (p.Glu8448Val)
c.25292A>T (p.Glu8431Val)
c.25145A>T (p.Glu8382Val)
6g.152140143T>CCA366080962SYNE1c.1799A>G (p.Glu600Gly)
c.25265A>G (p.Glu8422Gly)
c.25121A>G (p.Glu8374Gly)
c.667A>G
c.1000A>G
c.909A>G
c.1037A>G (p.Glu346Gly)
c.24050A>G (p.Glu8017Gly)
n.2013A>G
c.4100A>G (p.Glu1367Gly)
n.8957A>G
c.3203A>G (p.Glu1068Gly)
n.8849A>G
n.1879A>G
n.4287A>G
n.2102A>G
c.1730A>G (p.Glu577Gly)
c.25370A>G (p.Glu8457Gly)
c.25358A>G (p.Glu8453Gly)
c.25349A>G (p.Glu8450Gly)
c.25319A>G (p.Glu8440Gly)
c.25355A>G (p.Glu8452Gly)
c.25301A>G (p.Glu8434Gly)
c.25298A>G (p.Glu8433Gly)
c.25286A>G (p.Glu8429Gly)
c.25229A>G (p.Glu8410Gly)
c.25217A>G (p.Glu8406Gly)
c.25214A>G (p.Glu8405Gly)
c.25211A>G (p.Glu8404Gly)
c.25367A>G (p.Glu8456Gly)
c.25205A>G (p.Glu8402Gly)
c.23645A>G (p.Glu7882Gly)
c.23138A>G (p.Glu7713Gly)
c.18605A>G (p.Glu6202Gly)
c.1871A>G (p.Glu624Gly)
c.25343A>G (p.Glu8448Gly)
c.25292A>G (p.Glu8431Gly)
c.25145A>G (p.Glu8382Gly)
6g.152140143T>GCA366080956SYNE1c.1799A>C (p.Glu600Ala)
c.25265A>C (p.Glu8422Ala)
c.25121A>C (p.Glu8374Ala)
c.667A>C
c.1000A>C
c.909A>C
c.1037A>C (p.Glu346Ala)
c.24050A>C (p.Glu8017Ala)
n.2013A>C
c.4100A>C (p.Glu1367Ala)
n.8957A>C
c.3203A>C (p.Glu1068Ala)
n.8849A>C
n.1879A>C
n.4287A>C
n.2102A>C
c.1730A>C (p.Glu577Ala)
c.25370A>C (p.Glu8457Ala)
c.25358A>C (p.Glu8453Ala)
c.25349A>C (p.Glu8450Ala)
c.25319A>C (p.Glu8440Ala)
c.25355A>C (p.Glu8452Ala)
c.25301A>C (p.Glu8434Ala)
c.25298A>C (p.Glu8433Ala)
c.25286A>C (p.Glu8429Ala)
c.25229A>C (p.Glu8410Ala)
c.25217A>C (p.Glu8406Ala)
c.25214A>C (p.Glu8405Ala)
c.25211A>C (p.Glu8404Ala)
c.25367A>C (p.Glu8456Ala)
c.25205A>C (p.Glu8402Ala)
c.23645A>C (p.Glu7882Ala)
c.23138A>C (p.Glu7713Ala)
c.18605A>C (p.Glu6202Ala)
c.1871A>C (p.Glu624Ala)
c.25343A>C (p.Glu8448Ala)
c.25292A>C (p.Glu8431Ala)
c.25145A>C (p.Glu8382Ala)
6g.152140144C>ACA366080967SYNE1c.1798G>T (p.Glu600Ter)
c.25264G>T (p.Glu8422Ter)
c.25120G>T (p.Glu8374Ter)
c.666G>T
c.999G>T
c.908G>T
c.1036G>T (p.Glu346Ter)
c.24049G>T (p.Glu8017Ter)
n.2012G>T
c.4099G>T (p.Glu1367Ter)
n.8956G>T
c.3202G>T (p.Glu1068Ter)
n.8848G>T
n.1878G>T
n.4286G>T
n.2101G>T
c.1729G>T (p.Glu577Ter)
c.25369G>T (p.Glu8457Ter)
c.25357G>T (p.Glu8453Ter)
c.25348G>T (p.Glu8450Ter)
c.25318G>T (p.Glu8440Ter)
c.25354G>T (p.Glu8452Ter)
c.25300G>T (p.Glu8434Ter)
c.25297G>T (p.Glu8433Ter)
c.25285G>T (p.Glu8429Ter)
c.25228G>T (p.Glu8410Ter)
c.25216G>T (p.Glu8406Ter)
c.25213G>T (p.Glu8405Ter)
c.25210G>T (p.Glu8404Ter)
c.25366G>T (p.Glu8456Ter)
c.25204G>T (p.Glu8402Ter)
c.23644G>T (p.Glu7882Ter)
c.23137G>T (p.Glu7713Ter)
c.18604G>T (p.Glu6202Ter)
c.1870G>T (p.Glu624Ter)
c.25342G>T (p.Glu8448Ter)
c.25291G>T (p.Glu8431Ter)
c.25144G>T (p.Glu8382Ter)
6g.152140144C>GCA366080971SYNE1c.1798G>C (p.Glu600Gln)
c.25264G>C (p.Glu8422Gln)
c.25120G>C (p.Glu8374Gln)
c.666G>C
c.999G>C
c.908G>C
c.1036G>C (p.Glu346Gln)
c.24049G>C (p.Glu8017Gln)
n.2012G>C
c.4099G>C (p.Glu1367Gln)
n.8956G>C
c.3202G>C (p.Glu1068Gln)
n.8848G>C
n.1878G>C
n.4286G>C
n.2101G>C
c.1729G>C (p.Glu577Gln)
c.25369G>C (p.Glu8457Gln)
c.25357G>C (p.Glu8453Gln)
c.25348G>C (p.Glu8450Gln)
c.25318G>C (p.Glu8440Gln)
c.25354G>C (p.Glu8452Gln)
c.25300G>C (p.Glu8434Gln)
c.25297G>C (p.Glu8433Gln)
c.25285G>C (p.Glu8429Gln)
c.25228G>C (p.Glu8410Gln)
c.25216G>C (p.Glu8406Gln)
c.25213G>C (p.Glu8405Gln)
c.25210G>C (p.Glu8404Gln)
c.25366G>C (p.Glu8456Gln)
c.25204G>C (p.Glu8402Gln)
c.23644G>C (p.Glu7882Gln)
c.23137G>C (p.Glu7713Gln)
c.18604G>C (p.Glu6202Gln)
c.1870G>C (p.Glu624Gln)
c.25342G>C (p.Glu8448Gln)
c.25291G>C (p.Glu8431Gln)
c.25144G>C (p.Glu8382Gln)
6g.152140144C>TCA366080969SYNE1c.1798G>A (p.Glu600Lys)
c.25264G>A (p.Glu8422Lys)
c.25120G>A (p.Glu8374Lys)
c.666G>A
c.999G>A
c.908G>A
c.1036G>A (p.Glu346Lys)
c.24049G>A (p.Glu8017Lys)
n.2012G>A
c.4099G>A (p.Glu1367Lys)
n.8956G>A
c.3202G>A (p.Glu1068Lys)
n.8848G>A
n.1878G>A
n.4286G>A
n.2101G>A
c.1729G>A (p.Glu577Lys)
c.25369G>A (p.Glu8457Lys)
c.25357G>A (p.Glu8453Lys)
c.25348G>A (p.Glu8450Lys)
c.25318G>A (p.Glu8440Lys)
c.25354G>A (p.Glu8452Lys)
c.25300G>A (p.Glu8434Lys)
c.25297G>A (p.Glu8433Lys)
c.25285G>A (p.Glu8429Lys)
c.25228G>A (p.Glu8410Lys)
c.25216G>A (p.Glu8406Lys)
c.25213G>A (p.Glu8405Lys)
c.25210G>A (p.Glu8404Lys)
c.25366G>A (p.Glu8456Lys)
c.25204G>A (p.Glu8402Lys)
c.23644G>A (p.Glu7882Lys)
c.23137G>A (p.Glu7713Lys)
c.18604G>A (p.Glu6202Lys)
c.1870G>A (p.Glu624Lys)
c.25342G>A (p.Glu8448Lys)
c.25291G>A (p.Glu8431Lys)
c.25144G>A (p.Glu8382Lys)
 dbSNP gnomAD v4
6g.152140145C>ACA366080975SYNE1c.1797G>T (p.Trp599Cys)
c.25263G>T (p.Trp8421Cys)
c.25119G>T (p.Trp8373Cys)
c.665G>T
c.998G>T
c.907G>T
c.1035G>T (p.Trp345Cys)
c.24048G>T (p.Trp8016Cys)
n.2011G>T
c.4098G>T (p.Trp1366Cys)
n.8955G>T
c.3201G>T (p.Trp1067Cys)
n.8847G>T
n.1877G>T
n.4285G>T
n.2100G>T
c.1728G>T (p.Trp576Cys)
c.25368G>T (p.Trp8456Cys)
c.25356G>T (p.Trp8452Cys)
c.25347G>T (p.Trp8449Cys)
c.25317G>T (p.Trp8439Cys)
c.25353G>T (p.Trp8451Cys)
c.25299G>T (p.Trp8433Cys)
c.25296G>T (p.Trp8432Cys)
c.25284G>T (p.Trp8428Cys)
c.25227G>T (p.Trp8409Cys)
c.25215G>T (p.Trp8405Cys)
c.25212G>T (p.Trp8404Cys)
c.25209G>T (p.Trp8403Cys)
c.25365G>T (p.Trp8455Cys)
c.25203G>T (p.Trp8401Cys)
c.23643G>T (p.Trp7881Cys)
c.23136G>T (p.Trp7712Cys)
c.18603G>T (p.Trp6201Cys)
c.1869G>T (p.Trp623Cys)
c.25341G>T (p.Trp8447Cys)
c.25290G>T (p.Trp8430Cys)
c.25143G>T (p.Trp8381Cys)
6g.152140145C>GCA366080985SYNE1c.1797G>C (p.Trp599Cys)
c.25263G>C (p.Trp8421Cys)
c.25119G>C (p.Trp8373Cys)
c.665G>C
c.998G>C
c.907G>C
c.1035G>C (p.Trp345Cys)
c.24048G>C (p.Trp8016Cys)
n.2011G>C
c.4098G>C (p.Trp1366Cys)
n.8955G>C
c.3201G>C (p.Trp1067Cys)
n.8847G>C
n.1877G>C
n.4285G>C
n.2100G>C
c.1728G>C (p.Trp576Cys)
c.25368G>C (p.Trp8456Cys)
c.25356G>C (p.Trp8452Cys)
c.25347G>C (p.Trp8449Cys)
c.25317G>C (p.Trp8439Cys)
c.25353G>C (p.Trp8451Cys)
c.25299G>C (p.Trp8433Cys)
c.25296G>C (p.Trp8432Cys)
c.25284G>C (p.Trp8428Cys)
c.25227G>C (p.Trp8409Cys)
c.25215G>C (p.Trp8405Cys)
c.25212G>C (p.Trp8404Cys)
c.25209G>C (p.Trp8403Cys)
c.25365G>C (p.Trp8455Cys)
c.25203G>C (p.Trp8401Cys)
c.23643G>C (p.Trp7881Cys)
c.23136G>C (p.Trp7712Cys)
c.18603G>C (p.Trp6201Cys)
c.1869G>C (p.Trp623Cys)
c.25341G>C (p.Trp8447Cys)
c.25290G>C (p.Trp8430Cys)
c.25143G>C (p.Trp8381Cys)
6g.152140145C>TCA366080986SYNE1c.1797G>A (p.Trp599Ter)
c.25263G>A (p.Trp8421Ter)
c.25119G>A (p.Trp8373Ter)
c.665G>A
c.998G>A
c.907G>A
c.1035G>A (p.Trp345Ter)
c.24048G>A (p.Trp8016Ter)
n.2011G>A
c.4098G>A (p.Trp1366Ter)
n.8955G>A
c.3201G>A (p.Trp1067Ter)
n.8847G>A
n.1877G>A
n.4285G>A
n.2100G>A
c.1728G>A (p.Trp576Ter)
c.25368G>A (p.Trp8456Ter)
c.25356G>A (p.Trp8452Ter)
c.25347G>A (p.Trp8449Ter)
c.25317G>A (p.Trp8439Ter)
c.25353G>A (p.Trp8451Ter)
c.25299G>A (p.Trp8433Ter)
c.25296G>A (p.Trp8432Ter)
c.25284G>A (p.Trp8428Ter)
c.25227G>A (p.Trp8409Ter)
c.25215G>A (p.Trp8405Ter)
c.25212G>A (p.Trp8404Ter)
c.25209G>A (p.Trp8403Ter)
c.25365G>A (p.Trp8455Ter)
c.25203G>A (p.Trp8401Ter)
c.23643G>A (p.Trp7881Ter)
c.23136G>A (p.Trp7712Ter)
c.18603G>A (p.Trp6201Ter)
c.1869G>A (p.Trp623Ter)
c.25341G>A (p.Trp8447Ter)
c.25290G>A (p.Trp8430Ter)
c.25143G>A (p.Trp8381Ter)
 gnomAD v4
6g.152140146C>ACA366080990SYNE1c.1796G>T (p.Trp599Leu)
c.25262G>T (p.Trp8421Leu)
c.25118G>T (p.Trp8373Leu)
c.664G>T
c.997G>T
c.906G>T
c.1034G>T (p.Trp345Leu)
c.24047G>T (p.Trp8016Leu)
n.2010G>T
c.4097G>T (p.Trp1366Leu)
n.8954G>T
c.3200G>T (p.Trp1067Leu)
n.8846G>T
n.1876G>T
n.4284G>T
n.2099G>T
c.1727G>T (p.Trp576Leu)
c.25367G>T (p.Trp8456Leu)
c.25355G>T (p.Trp8452Leu)
c.25346G>T (p.Trp8449Leu)
c.25316G>T (p.Trp8439Leu)
c.25352G>T (p.Trp8451Leu)
c.25298G>T (p.Trp8433Leu)
c.25295G>T (p.Trp8432Leu)
c.25283G>T (p.Trp8428Leu)
c.25226G>T (p.Trp8409Leu)
c.25214G>T (p.Trp8405Leu)
c.25211G>T (p.Trp8404Leu)
c.25208G>T (p.Trp8403Leu)
c.25364G>T (p.Trp8455Leu)
c.25202G>T (p.Trp8401Leu)
c.23642G>T (p.Trp7881Leu)
c.23135G>T (p.Trp7712Leu)
c.18602G>T (p.Trp6201Leu)
c.1868G>T (p.Trp623Leu)
c.25340G>T (p.Trp8447Leu)
c.25289G>T (p.Trp8430Leu)
c.25142G>T (p.Trp8381Leu)
6g.152140146C=CA1673206436SYNE1c.1796G= (p.Trp599=)
c.25262G= (p.Trp8421=)
c.25118G= (p.Trp8373=)
c.664G=
c.997G=
c.906G=
c.1034G= (p.Trp345=)
c.24047G= (p.Trp8016=)
n.2010G=
c.4097G= (p.Trp1366=)
n.8954G=
c.3200G= (p.Trp1067=)
n.8846G=
n.1876G=
n.4284G=
n.2099G=
c.1727G= (p.Trp576=)
c.25367G= (p.Trp8456=)
c.25355G= (p.Trp8452=)
c.25346G= (p.Trp8449=)
c.25316G= (p.Trp8439=)
c.25352G= (p.Trp8451=)
c.25298G= (p.Trp8433=)
c.25295G= (p.Trp8432=)
c.25283G= (p.Trp8428=)
c.25226G= (p.Trp8409=)
c.25214G= (p.Trp8405=)
c.25211G= (p.Trp8404=)
c.25208G= (p.Trp8403=)
c.25364G= (p.Trp8455=)
c.25202G= (p.Trp8401=)
c.23642G= (p.Trp7881=)
c.23135G= (p.Trp7712=)
c.18602G= (p.Trp6201=)
c.1868G= (p.Trp623=)
c.25340G= (p.Trp8447=)
c.25289G= (p.Trp8430=)
c.25142G= (p.Trp8381=)
6g.152140146C>GCA4052871SYNE1c.1796G>C (p.Trp599Ser)
c.25262G>C (p.Trp8421Ser)
c.25118G>C (p.Trp8373Ser)
c.664G>C
c.997G>C
c.906G>C
c.1034G>C (p.Trp345Ser)
c.24047G>C (p.Trp8016Ser)
n.2010G>C
c.4097G>C (p.Trp1366Ser)
n.8954G>C
c.3200G>C (p.Trp1067Ser)
n.8846G>C
n.1876G>C
n.4284G>C
n.2099G>C
c.1727G>C (p.Trp576Ser)
c.25367G>C (p.Trp8456Ser)
c.25355G>C (p.Trp8452Ser)
c.25346G>C (p.Trp8449Ser)
c.25316G>C (p.Trp8439Ser)
c.25352G>C (p.Trp8451Ser)
c.25298G>C (p.Trp8433Ser)
c.25295G>C (p.Trp8432Ser)
c.25283G>C (p.Trp8428Ser)
c.25226G>C (p.Trp8409Ser)
c.25214G>C (p.Trp8405Ser)
c.25211G>C (p.Trp8404Ser)
c.25208G>C (p.Trp8403Ser)
c.25364G>C (p.Trp8455Ser)
c.25202G>C (p.Trp8401Ser)
c.23642G>C (p.Trp7881Ser)
c.23135G>C (p.Trp7712Ser)
c.18602G>C (p.Trp6201Ser)
c.1868G>C (p.Trp623Ser)
c.25340G>C (p.Trp8447Ser)
c.25289G>C (p.Trp8430Ser)
c.25142G>C (p.Trp8381Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140146C>TCA366080995SYNE1c.1796G>A (p.Trp599Ter)
c.25262G>A (p.Trp8421Ter)
c.25118G>A (p.Trp8373Ter)
c.664G>A
c.997G>A
c.906G>A
c.1034G>A (p.Trp345Ter)
c.24047G>A (p.Trp8016Ter)
n.2010G>A
c.4097G>A (p.Trp1366Ter)
n.8954G>A
c.3200G>A (p.Trp1067Ter)
n.8846G>A
n.1876G>A
n.4284G>A
n.2099G>A
c.1727G>A (p.Trp576Ter)
c.25367G>A (p.Trp8456Ter)
c.25355G>A (p.Trp8452Ter)
c.25346G>A (p.Trp8449Ter)
c.25316G>A (p.Trp8439Ter)
c.25352G>A (p.Trp8451Ter)
c.25298G>A (p.Trp8433Ter)
c.25295G>A (p.Trp8432Ter)
c.25283G>A (p.Trp8428Ter)
c.25226G>A (p.Trp8409Ter)
c.25214G>A (p.Trp8405Ter)
c.25211G>A (p.Trp8404Ter)
c.25208G>A (p.Trp8403Ter)
c.25364G>A (p.Trp8455Ter)
c.25202G>A (p.Trp8401Ter)
c.23642G>A (p.Trp7881Ter)
c.23135G>A (p.Trp7712Ter)
c.18602G>A (p.Trp6201Ter)
c.1868G>A (p.Trp623Ter)
c.25340G>A (p.Trp8447Ter)
c.25289G>A (p.Trp8430Ter)
c.25142G>A (p.Trp8381Ter)
6g.152140147_152140149dupCA2680812248SYNE1c.1794_1796dup (p.Trp599Ter)
c.25260_25262dup (p.Trp8421Ter)
c.25116_25118dup (p.Trp8373Ter)
c.662_664dup
c.995_997dup
c.904_906dup
c.1032_1034dup (p.Trp345Ter)
c.24045_24047dup (p.Trp8016Ter)
n.2008_2010dup
c.4095_4097dup (p.Trp1366Ter)
n.8952_8954dup
c.3198_3200dup (p.Trp1067Ter)
n.8844_8846dup
n.1874_1876dup
n.4282_4284dup
n.2097_2099dup
c.1725_1727dup (p.Trp576Ter)
c.25365_25367dup (p.Trp8456Ter)
c.25353_25355dup (p.Trp8452Ter)
c.25344_25346dup (p.Trp8449Ter)
c.25314_25316dup (p.Trp8439Ter)
c.25350_25352dup (p.Trp8451Ter)
c.25296_25298dup (p.Trp8433Ter)
c.25293_25295dup (p.Trp8432Ter)
c.25281_25283dup (p.Trp8428Ter)
c.25224_25226dup (p.Trp8409Ter)
c.25212_25214dup (p.Trp8405Ter)
c.25209_25211dup (p.Trp8404Ter)
c.25206_25208dup (p.Trp8403Ter)
c.25362_25364dup (p.Trp8455Ter)
c.25200_25202dup (p.Trp8401Ter)
c.23640_23642dup (p.Trp7881Ter)
c.23133_23135dup (p.Trp7712Ter)
c.18600_18602dup (p.Trp6201Ter)
c.1866_1868dup (p.Trp623Ter)
c.25338_25340dup (p.Trp8447Ter)
c.25287_25289dup (p.Trp8430Ter)
c.25140_25142dup (p.Trp8381Ter)
 gnomAD v4
6g.152140147A=CA1673206439SYNE1c.1795T= (p.Trp599=)
c.25261T= (p.Trp8421=)
c.25117T= (p.Trp8373=)
c.663T=
c.996T=
c.905T=
c.1033T= (p.Trp345=)
c.24046T= (p.Trp8016=)
n.2009T=
c.4096T= (p.Trp1366=)
n.8953T=
c.3199T= (p.Trp1067=)
n.8845T=
n.1875T=
n.4283T=
n.2098T=
c.1726T= (p.Trp576=)
c.25366T= (p.Trp8456=)
c.25354T= (p.Trp8452=)
c.25345T= (p.Trp8449=)
c.25315T= (p.Trp8439=)
c.25351T= (p.Trp8451=)
c.25297T= (p.Trp8433=)
c.25294T= (p.Trp8432=)
c.25282T= (p.Trp8428=)
c.25225T= (p.Trp8409=)
c.25213T= (p.Trp8405=)
c.25210T= (p.Trp8404=)
c.25207T= (p.Trp8403=)
c.25363T= (p.Trp8455=)
c.25201T= (p.Trp8401=)
c.23641T= (p.Trp7881=)
c.23134T= (p.Trp7712=)
c.18601T= (p.Trp6201=)
c.1867T= (p.Trp623=)
c.25339T= (p.Trp8447=)
c.25288T= (p.Trp8430=)
c.25141T= (p.Trp8381=)
6g.152140147A>CCA366080998SYNE1c.1795T>G (p.Trp599Gly)
c.25261T>G (p.Trp8421Gly)
c.25117T>G (p.Trp8373Gly)
c.663T>G
c.996T>G
c.905T>G
c.1033T>G (p.Trp345Gly)
c.24046T>G (p.Trp8016Gly)
n.2009T>G
c.4096T>G (p.Trp1366Gly)
n.8953T>G
c.3199T>G (p.Trp1067Gly)
n.8845T>G
n.1875T>G
n.4283T>G
n.2098T>G
c.1726T>G (p.Trp576Gly)
c.25366T>G (p.Trp8456Gly)
c.25354T>G (p.Trp8452Gly)
c.25345T>G (p.Trp8449Gly)
c.25315T>G (p.Trp8439Gly)
c.25351T>G (p.Trp8451Gly)
c.25297T>G (p.Trp8433Gly)
c.25294T>G (p.Trp8432Gly)
c.25282T>G (p.Trp8428Gly)
c.25225T>G (p.Trp8409Gly)
c.25213T>G (p.Trp8405Gly)
c.25210T>G (p.Trp8404Gly)
c.25207T>G (p.Trp8403Gly)
c.25363T>G (p.Trp8455Gly)
c.25201T>G (p.Trp8401Gly)
c.23641T>G (p.Trp7881Gly)
c.23134T>G (p.Trp7712Gly)
c.18601T>G (p.Trp6201Gly)
c.1867T>G (p.Trp623Gly)
c.25339T>G (p.Trp8447Gly)
c.25288T>G (p.Trp8430Gly)
c.25141T>G (p.Trp8381Gly)
6g.152140147A>GCA366081001SYNE1c.1795T>C (p.Trp599Arg)
c.25261T>C (p.Trp8421Arg)
c.25117T>C (p.Trp8373Arg)
c.663T>C
c.996T>C
c.905T>C
c.1033T>C (p.Trp345Arg)
c.24046T>C (p.Trp8016Arg)
n.2009T>C
c.4096T>C (p.Trp1366Arg)
n.8953T>C
c.3199T>C (p.Trp1067Arg)
n.8845T>C
n.1875T>C
n.4283T>C
n.2098T>C
c.1726T>C (p.Trp576Arg)
c.25366T>C (p.Trp8456Arg)
c.25354T>C (p.Trp8452Arg)
c.25345T>C (p.Trp8449Arg)
c.25315T>C (p.Trp8439Arg)
c.25351T>C (p.Trp8451Arg)
c.25297T>C (p.Trp8433Arg)
c.25294T>C (p.Trp8432Arg)
c.25282T>C (p.Trp8428Arg)
c.25225T>C (p.Trp8409Arg)
c.25213T>C (p.Trp8405Arg)
c.25210T>C (p.Trp8404Arg)
c.25207T>C (p.Trp8403Arg)
c.25363T>C (p.Trp8455Arg)
c.25201T>C (p.Trp8401Arg)
c.23641T>C (p.Trp7881Arg)
c.23134T>C (p.Trp7712Arg)
c.18601T>C (p.Trp6201Arg)
c.1867T>C (p.Trp623Arg)
c.25339T>C (p.Trp8447Arg)
c.25288T>C (p.Trp8430Arg)
c.25141T>C (p.Trp8381Arg)
6g.152140147A>TCA366081003SYNE1c.1795T>A (p.Trp599Arg)
c.25261T>A (p.Trp8421Arg)
c.25117T>A (p.Trp8373Arg)
c.663T>A
c.996T>A
c.905T>A
c.1033T>A (p.Trp345Arg)
c.24046T>A (p.Trp8016Arg)
n.2009T>A
c.4096T>A (p.Trp1366Arg)
n.8953T>A
c.3199T>A (p.Trp1067Arg)
n.8845T>A
n.1875T>A
n.4283T>A
n.2098T>A
c.1726T>A (p.Trp576Arg)
c.25366T>A (p.Trp8456Arg)
c.25354T>A (p.Trp8452Arg)
c.25345T>A (p.Trp8449Arg)
c.25315T>A (p.Trp8439Arg)
c.25351T>A (p.Trp8451Arg)
c.25297T>A (p.Trp8433Arg)
c.25294T>A (p.Trp8432Arg)
c.25282T>A (p.Trp8428Arg)
c.25225T>A (p.Trp8409Arg)
c.25213T>A (p.Trp8405Arg)
c.25210T>A (p.Trp8404Arg)
c.25207T>A (p.Trp8403Arg)
c.25363T>A (p.Trp8455Arg)
c.25201T>A (p.Trp8401Arg)
c.23641T>A (p.Trp7881Arg)
c.23134T>A (p.Trp7712Arg)
c.18601T>A (p.Trp6201Arg)
c.1867T>A (p.Trp623Arg)
c.25339T>A (p.Trp8447Arg)
c.25288T>A (p.Trp8430Arg)
c.25141T>A (p.Trp8381Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.152140148T>ACA452969971SYNE1c.1794A>T (p.Arg598=)
c.25260A>T (p.Arg8420=)
c.25116A>T (p.Arg8372=)
c.662A>T
c.995A>T
c.904A>T
c.1032A>T (p.Arg344=)
c.24045A>T (p.Arg8015=)
n.2008A>T
c.4095A>T (p.Arg1365=)
n.8952A>T
c.3198A>T (p.Arg1066=)
n.8844A>T
n.1874A>T
n.4282A>T
n.2097A>T
c.1725A>T (p.Arg575=)
c.25365A>T (p.Arg8455=)
c.25353A>T (p.Arg8451=)
c.25344A>T (p.Arg8448=)
c.25314A>T (p.Arg8438=)
c.25350A>T (p.Arg8450=)
c.25296A>T (p.Arg8432=)
c.25293A>T (p.Arg8431=)
c.25281A>T (p.Arg8427=)
c.25224A>T (p.Arg8408=)
c.25212A>T (p.Arg8404=)
c.25209A>T (p.Arg8403=)
c.25206A>T (p.Arg8402=)
c.25362A>T (p.Arg8454=)
c.25200A>T (p.Arg8400=)
c.23640A>T (p.Arg7880=)
c.23133A>T (p.Arg7711=)
c.18600A>T (p.Arg6200=)
c.1866A>T (p.Arg622=)
c.25338A>T (p.Arg8446=)
c.25287A>T (p.Arg8429=)
c.25140A>T (p.Arg8380=)
6g.152140148T>CCA452969973SYNE1c.1794A>G (p.Arg598=)
c.25260A>G (p.Arg8420=)
c.25116A>G (p.Arg8372=)
c.662A>G
c.995A>G
c.904A>G
c.1032A>G (p.Arg344=)
c.24045A>G (p.Arg8015=)
n.2008A>G
c.4095A>G (p.Arg1365=)
n.8952A>G
c.3198A>G (p.Arg1066=)
n.8844A>G
n.1874A>G
n.4282A>G
n.2097A>G
c.1725A>G (p.Arg575=)
c.25365A>G (p.Arg8455=)
c.25353A>G (p.Arg8451=)
c.25344A>G (p.Arg8448=)
c.25314A>G (p.Arg8438=)
c.25350A>G (p.Arg8450=)
c.25296A>G (p.Arg8432=)
c.25293A>G (p.Arg8431=)
c.25281A>G (p.Arg8427=)
c.25224A>G (p.Arg8408=)
c.25212A>G (p.Arg8404=)
c.25209A>G (p.Arg8403=)
c.25206A>G (p.Arg8402=)
c.25362A>G (p.Arg8454=)
c.25200A>G (p.Arg8400=)
c.23640A>G (p.Arg7880=)
c.23133A>G (p.Arg7711=)
c.18600A>G (p.Arg6200=)
c.1866A>G (p.Arg622=)
c.25338A>G (p.Arg8446=)
c.25287A>G (p.Arg8429=)
c.25140A>G (p.Arg8380=)
6g.152140148T>GCA452969972SYNE1c.1794A>C (p.Arg598=)
c.25260A>C (p.Arg8420=)
c.25116A>C (p.Arg8372=)
c.662A>C
c.995A>C
c.904A>C
c.1032A>C (p.Arg344=)
c.24045A>C (p.Arg8015=)
n.2008A>C
c.4095A>C (p.Arg1365=)
n.8952A>C
c.3198A>C (p.Arg1066=)
n.8844A>C
n.1874A>C
n.4282A>C
n.2097A>C
c.1725A>C (p.Arg575=)
c.25365A>C (p.Arg8455=)
c.25353A>C (p.Arg8451=)
c.25344A>C (p.Arg8448=)
c.25314A>C (p.Arg8438=)
c.25350A>C (p.Arg8450=)
c.25296A>C (p.Arg8432=)
c.25293A>C (p.Arg8431=)
c.25281A>C (p.Arg8427=)
c.25224A>C (p.Arg8408=)
c.25212A>C (p.Arg8404=)
c.25209A>C (p.Arg8403=)
c.25206A>C (p.Arg8402=)
c.25362A>C (p.Arg8454=)
c.25200A>C (p.Arg8400=)
c.23640A>C (p.Arg7880=)
c.23133A>C (p.Arg7711=)
c.18600A>C (p.Arg6200=)
c.1866A>C (p.Arg622=)
c.25338A>C (p.Arg8446=)
c.25287A>C (p.Arg8429=)
c.25140A>C (p.Arg8380=)
6g.152140149C>ACA366081006SYNE1c.1793G>T (p.Arg598Leu)
c.25259G>T (p.Arg8420Leu)
c.25115G>T (p.Arg8372Leu)
c.661G>T
c.994G>T
c.903G>T
c.1031G>T (p.Arg344Leu)
c.24044G>T (p.Arg8015Leu)
n.2007G>T
c.4094G>T (p.Arg1365Leu)
n.8951G>T
c.3197G>T (p.Arg1066Leu)
n.8843G>T
n.1873G>T
n.4281G>T
n.2096G>T
c.1724G>T (p.Arg575Leu)
c.25364G>T (p.Arg8455Leu)
c.25352G>T (p.Arg8451Leu)
c.25343G>T (p.Arg8448Leu)
c.25313G>T (p.Arg8438Leu)
c.25349G>T (p.Arg8450Leu)
c.25295G>T (p.Arg8432Leu)
c.25292G>T (p.Arg8431Leu)
c.25280G>T (p.Arg8427Leu)
c.25223G>T (p.Arg8408Leu)
c.25211G>T (p.Arg8404Leu)
c.25208G>T (p.Arg8403Leu)
c.25205G>T (p.Arg8402Leu)
c.25361G>T (p.Arg8454Leu)
c.25199G>T (p.Arg8400Leu)
c.23639G>T (p.Arg7880Leu)
c.23132G>T (p.Arg7711Leu)
c.18599G>T (p.Arg6200Leu)
c.1865G>T (p.Arg622Leu)
c.25337G>T (p.Arg8446Leu)
c.25286G>T (p.Arg8429Leu)
c.25139G>T (p.Arg8380Leu)
6g.152140149C=CA1673206443SYNE1c.1793G= (p.Arg598=)
c.25259G= (p.Arg8420=)
c.25115G= (p.Arg8372=)
c.661G=
c.994G=
c.903G=
c.1031G= (p.Arg344=)
c.24044G= (p.Arg8015=)
n.2007G=
c.4094G= (p.Arg1365=)
n.8951G=
c.3197G= (p.Arg1066=)
n.8843G=
n.1873G=
n.4281G=
n.2096G=
c.1724G= (p.Arg575=)
c.25364G= (p.Arg8455=)
c.25352G= (p.Arg8451=)
c.25343G= (p.Arg8448=)
c.25313G= (p.Arg8438=)
c.25349G= (p.Arg8450=)
c.25295G= (p.Arg8432=)
c.25292G= (p.Arg8431=)
c.25280G= (p.Arg8427=)
c.25223G= (p.Arg8408=)
c.25211G= (p.Arg8404=)
c.25208G= (p.Arg8403=)
c.25205G= (p.Arg8402=)
c.25361G= (p.Arg8454=)
c.25199G= (p.Arg8400=)
c.23639G= (p.Arg7880=)
c.23132G= (p.Arg7711=)
c.18599G= (p.Arg6200=)
c.1865G= (p.Arg622=)
c.25337G= (p.Arg8446=)
c.25286G= (p.Arg8429=)
c.25139G= (p.Arg8380=)
6g.152140149C>GCA366081011SYNE1c.1793G>C (p.Arg598Pro)
c.25259G>C (p.Arg8420Pro)
c.25115G>C (p.Arg8372Pro)
c.661G>C
c.994G>C
c.903G>C
c.1031G>C (p.Arg344Pro)
c.24044G>C (p.Arg8015Pro)
n.2007G>C
c.4094G>C (p.Arg1365Pro)
n.8951G>C
c.3197G>C (p.Arg1066Pro)
n.8843G>C
n.1873G>C
n.4281G>C
n.2096G>C
c.1724G>C (p.Arg575Pro)
c.25364G>C (p.Arg8455Pro)
c.25352G>C (p.Arg8451Pro)
c.25343G>C (p.Arg8448Pro)
c.25313G>C (p.Arg8438Pro)
c.25349G>C (p.Arg8450Pro)
c.25295G>C (p.Arg8432Pro)
c.25292G>C (p.Arg8431Pro)
c.25280G>C (p.Arg8427Pro)
c.25223G>C (p.Arg8408Pro)
c.25211G>C (p.Arg8404Pro)
c.25208G>C (p.Arg8403Pro)
c.25205G>C (p.Arg8402Pro)
c.25361G>C (p.Arg8454Pro)
c.25199G>C (p.Arg8400Pro)
c.23639G>C (p.Arg7880Pro)
c.23132G>C (p.Arg7711Pro)
c.18599G>C (p.Arg6200Pro)
c.1865G>C (p.Arg622Pro)
c.25337G>C (p.Arg8446Pro)
c.25286G>C (p.Arg8429Pro)
c.25139G>C (p.Arg8380Pro)
6g.152140149C>TCA150165674SYNE1c.1793G>A (p.Arg598Gln)
c.25259G>A (p.Arg8420Gln)
c.25115G>A (p.Arg8372Gln)
c.661G>A
c.994G>A
c.903G>A
c.1031G>A (p.Arg344Gln)
c.24044G>A (p.Arg8015Gln)
n.2007G>A
c.4094G>A (p.Arg1365Gln)
n.8951G>A
c.3197G>A (p.Arg1066Gln)
n.8843G>A
n.1873G>A
n.4281G>A
n.2096G>A
c.1724G>A (p.Arg575Gln)
c.25364G>A (p.Arg8455Gln)
c.25352G>A (p.Arg8451Gln)
c.25343G>A (p.Arg8448Gln)
c.25313G>A (p.Arg8438Gln)
c.25349G>A (p.Arg8450Gln)
c.25295G>A (p.Arg8432Gln)
c.25292G>A (p.Arg8431Gln)
c.25280G>A (p.Arg8427Gln)
c.25223G>A (p.Arg8408Gln)
c.25211G>A (p.Arg8404Gln)
c.25208G>A (p.Arg8403Gln)
c.25205G>A (p.Arg8402Gln)
c.25361G>A (p.Arg8454Gln)
c.25199G>A (p.Arg8400Gln)
c.23639G>A (p.Arg7880Gln)
c.23132G>A (p.Arg7711Gln)
c.18599G>A (p.Arg6200Gln)
c.1865G>A (p.Arg622Gln)
c.25337G>A (p.Arg8446Gln)
c.25286G>A (p.Arg8429Gln)
c.25139G>A (p.Arg8380Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140150G>ACA4052872SYNE1c.1792C>T (p.Arg598Ter)
c.25258C>T (p.Arg8420Ter)
c.25114C>T (p.Arg8372Ter)
c.660C>T
c.993C>T
c.902C>T
c.1030C>T (p.Arg344Ter)
c.24043C>T (p.Arg8015Ter)
n.2006C>T
c.4093C>T (p.Arg1365Ter)
n.8950C>T
c.3196C>T (p.Arg1066Ter)
n.8842C>T
n.1872C>T
n.4280C>T
n.2095C>T
c.1723C>T (p.Arg575Ter)
c.25363C>T (p.Arg8455Ter)
c.25351C>T (p.Arg8451Ter)
c.25342C>T (p.Arg8448Ter)
c.25312C>T (p.Arg8438Ter)
c.25348C>T (p.Arg8450Ter)
c.25294C>T (p.Arg8432Ter)
c.25291C>T (p.Arg8431Ter)
c.25279C>T (p.Arg8427Ter)
c.25222C>T (p.Arg8408Ter)
c.25210C>T (p.Arg8404Ter)
c.25207C>T (p.Arg8403Ter)
c.25204C>T (p.Arg8402Ter)
c.25360C>T (p.Arg8454Ter)
c.25198C>T (p.Arg8400Ter)
c.23638C>T (p.Arg7880Ter)
c.23131C>T (p.Arg7711Ter)
c.18598C>T (p.Arg6200Ter)
c.1864C>T (p.Arg622Ter)
c.25336C>T (p.Arg8446Ter)
c.25285C>T (p.Arg8429Ter)
c.25138C>T (p.Arg8380Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140150G>CCA366081015SYNE1c.1792C>G (p.Arg598Gly)
c.25258C>G (p.Arg8420Gly)
c.25114C>G (p.Arg8372Gly)
c.660C>G
c.993C>G
c.902C>G
c.1030C>G (p.Arg344Gly)
c.24043C>G (p.Arg8015Gly)
n.2006C>G
c.4093C>G (p.Arg1365Gly)
n.8950C>G
c.3196C>G (p.Arg1066Gly)
n.8842C>G
n.1872C>G
n.4280C>G
n.2095C>G
c.1723C>G (p.Arg575Gly)
c.25363C>G (p.Arg8455Gly)
c.25351C>G (p.Arg8451Gly)
c.25342C>G (p.Arg8448Gly)
c.25312C>G (p.Arg8438Gly)
c.25348C>G (p.Arg8450Gly)
c.25294C>G (p.Arg8432Gly)
c.25291C>G (p.Arg8431Gly)
c.25279C>G (p.Arg8427Gly)
c.25222C>G (p.Arg8408Gly)
c.25210C>G (p.Arg8404Gly)
c.25207C>G (p.Arg8403Gly)
c.25204C>G (p.Arg8402Gly)
c.25360C>G (p.Arg8454Gly)
c.25198C>G (p.Arg8400Gly)
c.23638C>G (p.Arg7880Gly)
c.23131C>G (p.Arg7711Gly)
c.18598C>G (p.Arg6200Gly)
c.1864C>G (p.Arg622Gly)
c.25336C>G (p.Arg8446Gly)
c.25285C>G (p.Arg8429Gly)
c.25138C>G (p.Arg8380Gly)
6g.152140150G=CA1673206448SYNE1c.1792C= (p.Arg598=)
c.25258C= (p.Arg8420=)
c.25114C= (p.Arg8372=)
c.660C=
c.993C=
c.902C=
c.1030C= (p.Arg344=)
c.24043C= (p.Arg8015=)
n.2006C=
c.4093C= (p.Arg1365=)
n.8950C=
c.3196C= (p.Arg1066=)
n.8842C=
n.1872C=
n.4280C=
n.2095C=
c.1723C= (p.Arg575=)
c.25363C= (p.Arg8455=)
c.25351C= (p.Arg8451=)
c.25342C= (p.Arg8448=)
c.25312C= (p.Arg8438=)
c.25348C= (p.Arg8450=)
c.25294C= (p.Arg8432=)
c.25291C= (p.Arg8431=)
c.25279C= (p.Arg8427=)
c.25222C= (p.Arg8408=)
c.25210C= (p.Arg8404=)
c.25207C= (p.Arg8403=)
c.25204C= (p.Arg8402=)
c.25360C= (p.Arg8454=)
c.25198C= (p.Arg8400=)
c.23638C= (p.Arg7880=)
c.23131C= (p.Arg7711=)
c.18598C= (p.Arg6200=)
c.1864C= (p.Arg622=)
c.25336C= (p.Arg8446=)
c.25285C= (p.Arg8429=)
c.25138C= (p.Arg8380=)
6g.152140150G>TCA452969974SYNE1c.1792C>A (p.Arg598=)
c.25258C>A (p.Arg8420=)
c.25114C>A (p.Arg8372=)
c.660C>A
c.993C>A
c.902C>A
c.1030C>A (p.Arg344=)
c.24043C>A (p.Arg8015=)
n.2006C>A
c.4093C>A (p.Arg1365=)
n.8950C>A
c.3196C>A (p.Arg1066=)
n.8842C>A
n.1872C>A
n.4280C>A
n.2095C>A
c.1723C>A (p.Arg575=)
c.25363C>A (p.Arg8455=)
c.25351C>A (p.Arg8451=)
c.25342C>A (p.Arg8448=)
c.25312C>A (p.Arg8438=)
c.25348C>A (p.Arg8450=)
c.25294C>A (p.Arg8432=)
c.25291C>A (p.Arg8431=)
c.25279C>A (p.Arg8427=)
c.25222C>A (p.Arg8408=)
c.25210C>A (p.Arg8404=)
c.25207C>A (p.Arg8403=)
c.25204C>A (p.Arg8402=)
c.25360C>A (p.Arg8454=)
c.25198C>A (p.Arg8400=)
c.23638C>A (p.Arg7880=)
c.23131C>A (p.Arg7711=)
c.18598C>A (p.Arg6200=)
c.1864C>A (p.Arg622=)
c.25336C>A (p.Arg8446=)
c.25285C>A (p.Arg8429=)
c.25138C>A (p.Arg8380=)
6g.152140151G>ACA452969975SYNE1c.1791C>T (p.Asp597=)
c.25257C>T (p.Asp8419=)
c.25113C>T (p.Asp8371=)
c.659C>T
c.992C>T
c.901C>T
c.1029C>T (p.Asp343=)
c.24042C>T (p.Asp8014=)
n.2005C>T
c.4092C>T (p.Asp1364=)
n.8949C>T
c.3195C>T (p.Asp1065=)
n.8841C>T
n.1871C>T
n.4279C>T
n.2094C>T
c.1722C>T (p.Asp574=)
c.25362C>T (p.Asp8454=)
c.25350C>T (p.Asp8450=)
c.25341C>T (p.Asp8447=)
c.25311C>T (p.Asp8437=)
c.25347C>T (p.Asp8449=)
c.25293C>T (p.Asp8431=)
c.25290C>T (p.Asp8430=)
c.25278C>T (p.Asp8426=)
c.25221C>T (p.Asp8407=)
c.25209C>T (p.Asp8403=)
c.25206C>T (p.Asp8402=)
c.25203C>T (p.Asp8401=)
c.25359C>T (p.Asp8453=)
c.25197C>T (p.Asp8399=)
c.23637C>T (p.Asp7879=)
c.23130C>T (p.Asp7710=)
c.18597C>T (p.Asp6199=)
c.1863C>T (p.Asp621=)
c.25335C>T (p.Asp8445=)
c.25284C>T (p.Asp8428=)
c.25137C>T (p.Asp8379=)
6g.152140151G>CCA366081018SYNE1c.1791C>G (p.Asp597Glu)
c.25257C>G (p.Asp8419Glu)
c.25113C>G (p.Asp8371Glu)
c.659C>G
c.992C>G
c.901C>G
c.1029C>G (p.Asp343Glu)
c.24042C>G (p.Asp8014Glu)
n.2005C>G
c.4092C>G (p.Asp1364Glu)
n.8949C>G
c.3195C>G (p.Asp1065Glu)
n.8841C>G
n.1871C>G
n.4279C>G
n.2094C>G
c.1722C>G (p.Asp574Glu)
c.25362C>G (p.Asp8454Glu)
c.25350C>G (p.Asp8450Glu)
c.25341C>G (p.Asp8447Glu)
c.25311C>G (p.Asp8437Glu)
c.25347C>G (p.Asp8449Glu)
c.25293C>G (p.Asp8431Glu)
c.25290C>G (p.Asp8430Glu)
c.25278C>G (p.Asp8426Glu)
c.25221C>G (p.Asp8407Glu)
c.25209C>G (p.Asp8403Glu)
c.25206C>G (p.Asp8402Glu)
c.25203C>G (p.Asp8401Glu)
c.25359C>G (p.Asp8453Glu)
c.25197C>G (p.Asp8399Glu)
c.23637C>G (p.Asp7879Glu)
c.23130C>G (p.Asp7710Glu)
c.18597C>G (p.Asp6199Glu)
c.1863C>G (p.Asp621Glu)
c.25335C>G (p.Asp8445Glu)
c.25284C>G (p.Asp8428Glu)
c.25137C>G (p.Asp8379Glu)
6g.152140151G>TCA366081022SYNE1c.1791C>A (p.Asp597Glu)
c.25257C>A (p.Asp8419Glu)
c.25113C>A (p.Asp8371Glu)
c.659C>A
c.992C>A
c.901C>A
c.1029C>A (p.Asp343Glu)
c.24042C>A (p.Asp8014Glu)
n.2005C>A
c.4092C>A (p.Asp1364Glu)
n.8949C>A
c.3195C>A (p.Asp1065Glu)
n.8841C>A
n.1871C>A
n.4279C>A
n.2094C>A
c.1722C>A (p.Asp574Glu)
c.25362C>A (p.Asp8454Glu)
c.25350C>A (p.Asp8450Glu)
c.25341C>A (p.Asp8447Glu)
c.25311C>A (p.Asp8437Glu)
c.25347C>A (p.Asp8449Glu)
c.25293C>A (p.Asp8431Glu)
c.25290C>A (p.Asp8430Glu)
c.25278C>A (p.Asp8426Glu)
c.25221C>A (p.Asp8407Glu)
c.25209C>A (p.Asp8403Glu)
c.25206C>A (p.Asp8402Glu)
c.25203C>A (p.Asp8401Glu)
c.25359C>A (p.Asp8453Glu)
c.25197C>A (p.Asp8399Glu)
c.23637C>A (p.Asp7879Glu)
c.23130C>A (p.Asp7710Glu)
c.18597C>A (p.Asp6199Glu)
c.1863C>A (p.Asp621Glu)
c.25335C>A (p.Asp8445Glu)
c.25284C>A (p.Asp8428Glu)
c.25137C>A (p.Asp8379Glu)
6g.152140152T>ACA366081024SYNE1c.1790A>T (p.Asp597Val)
c.25256A>T (p.Asp8419Val)
c.25112A>T (p.Asp8371Val)
c.658A>T
c.991A>T
c.900A>T
c.1028A>T (p.Asp343Val)
c.24041A>T (p.Asp8014Val)
n.2004A>T
c.4091A>T (p.Asp1364Val)
n.8948A>T
c.3194A>T (p.Asp1065Val)
n.8840A>T
n.1870A>T
n.4278A>T
n.2093A>T
c.1721A>T (p.Asp574Val)
c.25361A>T (p.Asp8454Val)
c.25349A>T (p.Asp8450Val)
c.25340A>T (p.Asp8447Val)
c.25310A>T (p.Asp8437Val)
c.25346A>T (p.Asp8449Val)
c.25292A>T (p.Asp8431Val)
c.25289A>T (p.Asp8430Val)
c.25277A>T (p.Asp8426Val)
c.25220A>T (p.Asp8407Val)
c.25208A>T (p.Asp8403Val)
c.25205A>T (p.Asp8402Val)
c.25202A>T (p.Asp8401Val)
c.25358A>T (p.Asp8453Val)
c.25196A>T (p.Asp8399Val)
c.23636A>T (p.Asp7879Val)
c.23129A>T (p.Asp7710Val)
c.18596A>T (p.Asp6199Val)
c.1862A>T (p.Asp621Val)
c.25334A>T (p.Asp8445Val)
c.25283A>T (p.Asp8428Val)
c.25136A>T (p.Asp8379Val)
6g.152140152T>CCA366081027SYNE1c.1790A>G (p.Asp597Gly)
c.25256A>G (p.Asp8419Gly)
c.25112A>G (p.Asp8371Gly)
c.658A>G
c.991A>G
c.900A>G
c.1028A>G (p.Asp343Gly)
c.24041A>G (p.Asp8014Gly)
n.2004A>G
c.4091A>G (p.Asp1364Gly)
n.8948A>G
c.3194A>G (p.Asp1065Gly)
n.8840A>G
n.1870A>G
n.4278A>G
n.2093A>G
c.1721A>G (p.Asp574Gly)
c.25361A>G (p.Asp8454Gly)
c.25349A>G (p.Asp8450Gly)
c.25340A>G (p.Asp8447Gly)
c.25310A>G (p.Asp8437Gly)
c.25346A>G (p.Asp8449Gly)
c.25292A>G (p.Asp8431Gly)
c.25289A>G (p.Asp8430Gly)
c.25277A>G (p.Asp8426Gly)
c.25220A>G (p.Asp8407Gly)
c.25208A>G (p.Asp8403Gly)
c.25205A>G (p.Asp8402Gly)
c.25202A>G (p.Asp8401Gly)
c.25358A>G (p.Asp8453Gly)
c.25196A>G (p.Asp8399Gly)
c.23636A>G (p.Asp7879Gly)
c.23129A>G (p.Asp7710Gly)
c.18596A>G (p.Asp6199Gly)
c.1862A>G (p.Asp621Gly)
c.25334A>G (p.Asp8445Gly)
c.25283A>G (p.Asp8428Gly)
c.25136A>G (p.Asp8379Gly)
6g.152140152T>GCA366081030SYNE1c.1790A>C (p.Asp597Ala)
c.25256A>C (p.Asp8419Ala)
c.25112A>C (p.Asp8371Ala)
c.658A>C
c.991A>C
c.900A>C
c.1028A>C (p.Asp343Ala)
c.24041A>C (p.Asp8014Ala)
n.2004A>C
c.4091A>C (p.Asp1364Ala)
n.8948A>C
c.3194A>C (p.Asp1065Ala)
n.8840A>C
n.1870A>C
n.4278A>C
n.2093A>C
c.1721A>C (p.Asp574Ala)
c.25361A>C (p.Asp8454Ala)
c.25349A>C (p.Asp8450Ala)
c.25340A>C (p.Asp8447Ala)
c.25310A>C (p.Asp8437Ala)
c.25346A>C (p.Asp8449Ala)
c.25292A>C (p.Asp8431Ala)
c.25289A>C (p.Asp8430Ala)
c.25277A>C (p.Asp8426Ala)
c.25220A>C (p.Asp8407Ala)
c.25208A>C (p.Asp8403Ala)
c.25205A>C (p.Asp8402Ala)
c.25202A>C (p.Asp8401Ala)
c.25358A>C (p.Asp8453Ala)
c.25196A>C (p.Asp8399Ala)
c.23636A>C (p.Asp7879Ala)
c.23129A>C (p.Asp7710Ala)
c.18596A>C (p.Asp6199Ala)
c.1862A>C (p.Asp621Ala)
c.25334A>C (p.Asp8445Ala)
c.25283A>C (p.Asp8428Ala)
c.25136A>C (p.Asp8379Ala)
6g.152140153C>ACA366081033SYNE1c.1789G>T (p.Asp597Tyr)
c.25255G>T (p.Asp8419Tyr)
c.25111G>T (p.Asp8371Tyr)
c.657G>T
c.990G>T
c.899G>T
c.1027G>T (p.Asp343Tyr)
c.24040G>T (p.Asp8014Tyr)
n.2003G>T
c.4090G>T (p.Asp1364Tyr)
n.8947G>T
c.3193G>T (p.Asp1065Tyr)
n.8839G>T
n.1869G>T
n.4277G>T
n.2092G>T
c.1720G>T (p.Asp574Tyr)
c.25360G>T (p.Asp8454Tyr)
c.25348G>T (p.Asp8450Tyr)
c.25339G>T (p.Asp8447Tyr)
c.25309G>T (p.Asp8437Tyr)
c.25345G>T (p.Asp8449Tyr)
c.25291G>T (p.Asp8431Tyr)
c.25288G>T (p.Asp8430Tyr)
c.25276G>T (p.Asp8426Tyr)
c.25219G>T (p.Asp8407Tyr)
c.25207G>T (p.Asp8403Tyr)
c.25204G>T (p.Asp8402Tyr)
c.25201G>T (p.Asp8401Tyr)
c.25357G>T (p.Asp8453Tyr)
c.25195G>T (p.Asp8399Tyr)
c.23635G>T (p.Asp7879Tyr)
c.23128G>T (p.Asp7710Tyr)
c.18595G>T (p.Asp6199Tyr)
c.1861G>T (p.Asp621Tyr)
c.25333G>T (p.Asp8445Tyr)
c.25282G>T (p.Asp8428Tyr)
c.25135G>T (p.Asp8379Tyr)
6g.152140153C=CA1673206451SYNE1c.1789G= (p.Asp597=)
c.25255G= (p.Asp8419=)
c.25111G= (p.Asp8371=)
c.657G=
c.990G=
c.899G=
c.1027G= (p.Asp343=)
c.24040G= (p.Asp8014=)
n.2003G=
c.4090G= (p.Asp1364=)
n.8947G=
c.3193G= (p.Asp1065=)
n.8839G=
n.1869G=
n.4277G=
n.2092G=
c.1720G= (p.Asp574=)
c.25360G= (p.Asp8454=)
c.25348G= (p.Asp8450=)
c.25339G= (p.Asp8447=)
c.25309G= (p.Asp8437=)
c.25345G= (p.Asp8449=)
c.25291G= (p.Asp8431=)
c.25288G= (p.Asp8430=)
c.25276G= (p.Asp8426=)
c.25219G= (p.Asp8407=)
c.25207G= (p.Asp8403=)
c.25204G= (p.Asp8402=)
c.25201G= (p.Asp8401=)
c.25357G= (p.Asp8453=)
c.25195G= (p.Asp8399=)
c.23635G= (p.Asp7879=)
c.23128G= (p.Asp7710=)
c.18595G= (p.Asp6199=)
c.1861G= (p.Asp621=)
c.25333G= (p.Asp8445=)
c.25282G= (p.Asp8428=)
c.25135G= (p.Asp8379=)
6g.152140153C>GCA4052873SYNE1c.1789G>C (p.Asp597His)
c.25255G>C (p.Asp8419His)
c.25111G>C (p.Asp8371His)
c.657G>C
c.990G>C
c.899G>C
c.1027G>C (p.Asp343His)
c.24040G>C (p.Asp8014His)
n.2003G>C
c.4090G>C (p.Asp1364His)
n.8947G>C
c.3193G>C (p.Asp1065His)
n.8839G>C
n.1869G>C
n.4277G>C
n.2092G>C
c.1720G>C (p.Asp574His)
c.25360G>C (p.Asp8454His)
c.25348G>C (p.Asp8450His)
c.25339G>C (p.Asp8447His)
c.25309G>C (p.Asp8437His)
c.25345G>C (p.Asp8449His)
c.25291G>C (p.Asp8431His)
c.25288G>C (p.Asp8430His)
c.25276G>C (p.Asp8426His)
c.25219G>C (p.Asp8407His)
c.25207G>C (p.Asp8403His)
c.25204G>C (p.Asp8402His)
c.25201G>C (p.Asp8401His)
c.25357G>C (p.Asp8453His)
c.25195G>C (p.Asp8399His)
c.23635G>C (p.Asp7879His)
c.23128G>C (p.Asp7710His)
c.18595G>C (p.Asp6199His)
c.1861G>C (p.Asp621His)
c.25333G>C (p.Asp8445His)
c.25282G>C (p.Asp8428His)
c.25135G>C (p.Asp8379His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140153C>TCA366081036SYNE1c.1789G>A (p.Asp597Asn)
c.25255G>A (p.Asp8419Asn)
c.25111G>A (p.Asp8371Asn)
c.657G>A
c.990G>A
c.899G>A
c.1027G>A (p.Asp343Asn)
c.24040G>A (p.Asp8014Asn)
n.2003G>A
c.4090G>A (p.Asp1364Asn)
n.8947G>A
c.3193G>A (p.Asp1065Asn)
n.8839G>A
n.1869G>A
n.4277G>A
n.2092G>A
c.1720G>A (p.Asp574Asn)
c.25360G>A (p.Asp8454Asn)
c.25348G>A (p.Asp8450Asn)
c.25339G>A (p.Asp8447Asn)
c.25309G>A (p.Asp8437Asn)
c.25345G>A (p.Asp8449Asn)
c.25291G>A (p.Asp8431Asn)
c.25288G>A (p.Asp8430Asn)
c.25276G>A (p.Asp8426Asn)
c.25219G>A (p.Asp8407Asn)
c.25207G>A (p.Asp8403Asn)
c.25204G>A (p.Asp8402Asn)
c.25201G>A (p.Asp8401Asn)
c.25357G>A (p.Asp8453Asn)
c.25195G>A (p.Asp8399Asn)
c.23635G>A (p.Asp7879Asn)
c.23128G>A (p.Asp7710Asn)
c.18595G>A (p.Asp6199Asn)
c.1861G>A (p.Asp621Asn)
c.25333G>A (p.Asp8445Asn)
c.25282G>A (p.Asp8428Asn)
c.25135G>A (p.Asp8379Asn)
 dbSNP
6g.152140154A>CCA366081039SYNE1c.1788T>G (p.Ile596Met)
c.25254T>G (p.Ile8418Met)
c.25110T>G (p.Ile8370Met)
c.656T>G
c.989T>G
c.898T>G
c.1026T>G (p.Ile342Met)
c.24039T>G (p.Ile8013Met)
n.2002T>G
c.4089T>G (p.Ile1363Met)
n.8946T>G
c.3192T>G (p.Ile1064Met)
n.8838T>G
n.1868T>G
n.4276T>G
n.2091T>G
c.1719T>G (p.Ile573Met)
c.25359T>G (p.Ile8453Met)
c.25347T>G (p.Ile8449Met)
c.25338T>G (p.Ile8446Met)
c.25308T>G (p.Ile8436Met)
c.25344T>G (p.Ile8448Met)
c.25290T>G (p.Ile8430Met)
c.25287T>G (p.Ile8429Met)
c.25275T>G (p.Ile8425Met)
c.25218T>G (p.Ile8406Met)
c.25206T>G (p.Ile8402Met)
c.25203T>G (p.Ile8401Met)
c.25200T>G (p.Ile8400Met)
c.25356T>G (p.Ile8452Met)
c.25194T>G (p.Ile8398Met)
c.23634T>G (p.Ile7878Met)
c.23127T>G (p.Ile7709Met)
c.18594T>G (p.Ile6198Met)
c.1860T>G (p.Ile620Met)
c.25332T>G (p.Ile8444Met)
c.25281T>G (p.Ile8427Met)
c.25134T>G (p.Ile8378Met)
6g.152140154A>GCA452969976SYNE1c.1788T>C (p.Ile596=)
c.25254T>C (p.Ile8418=)
c.25110T>C (p.Ile8370=)
c.656T>C
c.989T>C
c.898T>C
c.1026T>C (p.Ile342=)
c.24039T>C (p.Ile8013=)
n.2002T>C
c.4089T>C (p.Ile1363=)
n.8946T>C
c.3192T>C (p.Ile1064=)
n.8838T>C
n.1868T>C
n.4276T>C
n.2091T>C
c.1719T>C (p.Ile573=)
c.25359T>C (p.Ile8453=)
c.25347T>C (p.Ile8449=)
c.25338T>C (p.Ile8446=)
c.25308T>C (p.Ile8436=)
c.25344T>C (p.Ile8448=)
c.25290T>C (p.Ile8430=)
c.25287T>C (p.Ile8429=)
c.25275T>C (p.Ile8425=)
c.25218T>C (p.Ile8406=)
c.25206T>C (p.Ile8402=)
c.25203T>C (p.Ile8401=)
c.25200T>C (p.Ile8400=)
c.25356T>C (p.Ile8452=)
c.25194T>C (p.Ile8398=)
c.23634T>C (p.Ile7878=)
c.23127T>C (p.Ile7709=)
c.18594T>C (p.Ile6198=)
c.1860T>C (p.Ile620=)
c.25332T>C (p.Ile8444=)
c.25281T>C (p.Ile8427=)
c.25134T>C (p.Ile8378=)
6g.152140154A>TCA452969977SYNE1c.1788T>A (p.Ile596=)
c.25254T>A (p.Ile8418=)
c.25110T>A (p.Ile8370=)
c.656T>A
c.989T>A
c.898T>A
c.1026T>A (p.Ile342=)
c.24039T>A (p.Ile8013=)
n.2002T>A
c.4089T>A (p.Ile1363=)
n.8946T>A
c.3192T>A (p.Ile1064=)
n.8838T>A
n.1868T>A
n.4276T>A
n.2091T>A
c.1719T>A (p.Ile573=)
c.25359T>A (p.Ile8453=)
c.25347T>A (p.Ile8449=)
c.25338T>A (p.Ile8446=)
c.25308T>A (p.Ile8436=)
c.25344T>A (p.Ile8448=)
c.25290T>A (p.Ile8430=)
c.25287T>A (p.Ile8429=)
c.25275T>A (p.Ile8425=)
c.25218T>A (p.Ile8406=)
c.25206T>A (p.Ile8402=)
c.25203T>A (p.Ile8401=)
c.25200T>A (p.Ile8400=)
c.25356T>A (p.Ile8452=)
c.25194T>A (p.Ile8398=)
c.23634T>A (p.Ile7878=)
c.23127T>A (p.Ile7709=)
c.18594T>A (p.Ile6198=)
c.1860T>A (p.Ile620=)
c.25332T>A (p.Ile8444=)
c.25281T>A (p.Ile8427=)
c.25134T>A (p.Ile8378=)
6g.152140155A=CA1673206454SYNE1c.1787T= (p.Ile596=)
c.25253T= (p.Ile8418=)
c.25109T= (p.Ile8370=)
c.655T=
c.988T=
c.897T=
c.1025T= (p.Ile342=)
c.24038T= (p.Ile8013=)
n.2001T=
c.4088T= (p.Ile1363=)
n.8945T=
c.3191T= (p.Ile1064=)
n.8837T=
n.1867T=
n.4275T=
n.2090T=
c.1718T= (p.Ile573=)
c.25358T= (p.Ile8453=)
c.25346T= (p.Ile8449=)
c.25337T= (p.Ile8446=)
c.25307T= (p.Ile8436=)
c.25343T= (p.Ile8448=)
c.25289T= (p.Ile8430=)
c.25286T= (p.Ile8429=)
c.25274T= (p.Ile8425=)
c.25217T= (p.Ile8406=)
c.25205T= (p.Ile8402=)
c.25202T= (p.Ile8401=)
c.25199T= (p.Ile8400=)
c.25355T= (p.Ile8452=)
c.25193T= (p.Ile8398=)
c.23633T= (p.Ile7878=)
c.23126T= (p.Ile7709=)
c.18593T= (p.Ile6198=)
c.1859T= (p.Ile620=)
c.25331T= (p.Ile8444=)
c.25280T= (p.Ile8427=)
c.25133T= (p.Ile8378=)
6g.152140155A>CCA366081042SYNE1c.1787T>G (p.Ile596Ser)
c.25253T>G (p.Ile8418Ser)
c.25109T>G (p.Ile8370Ser)
c.655T>G
c.988T>G
c.897T>G
c.1025T>G (p.Ile342Ser)
c.24038T>G (p.Ile8013Ser)
n.2001T>G
c.4088T>G (p.Ile1363Ser)
n.8945T>G
c.3191T>G (p.Ile1064Ser)
n.8837T>G
n.1867T>G
n.4275T>G
n.2090T>G
c.1718T>G (p.Ile573Ser)
c.25358T>G (p.Ile8453Ser)
c.25346T>G (p.Ile8449Ser)
c.25337T>G (p.Ile8446Ser)
c.25307T>G (p.Ile8436Ser)
c.25343T>G (p.Ile8448Ser)
c.25289T>G (p.Ile8430Ser)
c.25286T>G (p.Ile8429Ser)
c.25274T>G (p.Ile8425Ser)
c.25217T>G (p.Ile8406Ser)
c.25205T>G (p.Ile8402Ser)
c.25202T>G (p.Ile8401Ser)
c.25199T>G (p.Ile8400Ser)
c.25355T>G (p.Ile8452Ser)
c.25193T>G (p.Ile8398Ser)
c.23633T>G (p.Ile7878Ser)
c.23126T>G (p.Ile7709Ser)
c.18593T>G (p.Ile6198Ser)
c.1859T>G (p.Ile620Ser)
c.25331T>G (p.Ile8444Ser)
c.25280T>G (p.Ile8427Ser)
c.25133T>G (p.Ile8378Ser)
6g.152140155A>GCA366081045SYNE1c.1787T>C (p.Ile596Thr)
c.25253T>C (p.Ile8418Thr)
c.25109T>C (p.Ile8370Thr)
c.655T>C
c.988T>C
c.897T>C
c.1025T>C (p.Ile342Thr)
c.24038T>C (p.Ile8013Thr)
n.2001T>C
c.4088T>C (p.Ile1363Thr)
n.8945T>C
c.3191T>C (p.Ile1064Thr)
n.8837T>C
n.1867T>C
n.4275T>C
n.2090T>C
c.1718T>C (p.Ile573Thr)
c.25358T>C (p.Ile8453Thr)
c.25346T>C (p.Ile8449Thr)
c.25337T>C (p.Ile8446Thr)
c.25307T>C (p.Ile8436Thr)
c.25343T>C (p.Ile8448Thr)
c.25289T>C (p.Ile8430Thr)
c.25286T>C (p.Ile8429Thr)
c.25274T>C (p.Ile8425Thr)
c.25217T>C (p.Ile8406Thr)
c.25205T>C (p.Ile8402Thr)
c.25202T>C (p.Ile8401Thr)
c.25199T>C (p.Ile8400Thr)
c.25355T>C (p.Ile8452Thr)
c.25193T>C (p.Ile8398Thr)
c.23633T>C (p.Ile7878Thr)
c.23126T>C (p.Ile7709Thr)
c.18593T>C (p.Ile6198Thr)
c.1859T>C (p.Ile620Thr)
c.25331T>C (p.Ile8444Thr)
c.25280T>C (p.Ile8427Thr)
c.25133T>C (p.Ile8378Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.152140155A>TCA366081046SYNE1c.1787T>A (p.Ile596Asn)
c.25253T>A (p.Ile8418Asn)
c.25109T>A (p.Ile8370Asn)
c.655T>A
c.988T>A
c.897T>A
c.1025T>A (p.Ile342Asn)
c.24038T>A (p.Ile8013Asn)
n.2001T>A
c.4088T>A (p.Ile1363Asn)
n.8945T>A
c.3191T>A (p.Ile1064Asn)
n.8837T>A
n.1867T>A
n.4275T>A
n.2090T>A
c.1718T>A (p.Ile573Asn)
c.25358T>A (p.Ile8453Asn)
c.25346T>A (p.Ile8449Asn)
c.25337T>A (p.Ile8446Asn)
c.25307T>A (p.Ile8436Asn)
c.25343T>A (p.Ile8448Asn)
c.25289T>A (p.Ile8430Asn)
c.25286T>A (p.Ile8429Asn)
c.25274T>A (p.Ile8425Asn)
c.25217T>A (p.Ile8406Asn)
c.25205T>A (p.Ile8402Asn)
c.25202T>A (p.Ile8401Asn)
c.25199T>A (p.Ile8400Asn)
c.25355T>A (p.Ile8452Asn)
c.25193T>A (p.Ile8398Asn)
c.23633T>A (p.Ile7878Asn)
c.23126T>A (p.Ile7709Asn)
c.18593T>A (p.Ile6198Asn)
c.1859T>A (p.Ile620Asn)
c.25331T>A (p.Ile8444Asn)
c.25280T>A (p.Ile8427Asn)
c.25133T>A (p.Ile8378Asn)
6g.152140156T>ACA366081050SYNE1c.1786A>T (p.Ile596Phe)
c.25252A>T (p.Ile8418Phe)
c.25108A>T (p.Ile8370Phe)
c.654A>T
c.987A>T
c.896A>T
c.1024A>T (p.Ile342Phe)
c.24037A>T (p.Ile8013Phe)
n.2000A>T
c.4087A>T (p.Ile1363Phe)
n.8944A>T
c.3190A>T (p.Ile1064Phe)
n.8836A>T
n.1866A>T
n.4274A>T
n.2089A>T
c.1717A>T (p.Ile573Phe)
c.25357A>T (p.Ile8453Phe)
c.25345A>T (p.Ile8449Phe)
c.25336A>T (p.Ile8446Phe)
c.25306A>T (p.Ile8436Phe)
c.25342A>T (p.Ile8448Phe)
c.25288A>T (p.Ile8430Phe)
c.25285A>T (p.Ile8429Phe)
c.25273A>T (p.Ile8425Phe)
c.25216A>T (p.Ile8406Phe)
c.25204A>T (p.Ile8402Phe)
c.25201A>T (p.Ile8401Phe)
c.25198A>T (p.Ile8400Phe)
c.25354A>T (p.Ile8452Phe)
c.25192A>T (p.Ile8398Phe)
c.23632A>T (p.Ile7878Phe)
c.23125A>T (p.Ile7709Phe)
c.18592A>T (p.Ile6198Phe)
c.1858A>T (p.Ile620Phe)
c.25330A>T (p.Ile8444Phe)
c.25279A>T (p.Ile8427Phe)
c.25132A>T (p.Ile8378Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140156T>CCA366081054SYNE1c.1786A>G (p.Ile596Val)
c.25252A>G (p.Ile8418Val)
c.25108A>G (p.Ile8370Val)
c.654A>G
c.987A>G
c.896A>G
c.1024A>G (p.Ile342Val)
c.24037A>G (p.Ile8013Val)
n.2000A>G
c.4087A>G (p.Ile1363Val)
n.8944A>G
c.3190A>G (p.Ile1064Val)
n.8836A>G
n.1866A>G
n.4274A>G
n.2089A>G
c.1717A>G (p.Ile573Val)
c.25357A>G (p.Ile8453Val)
c.25345A>G (p.Ile8449Val)
c.25336A>G (p.Ile8446Val)
c.25306A>G (p.Ile8436Val)
c.25342A>G (p.Ile8448Val)
c.25288A>G (p.Ile8430Val)
c.25285A>G (p.Ile8429Val)
c.25273A>G (p.Ile8425Val)
c.25216A>G (p.Ile8406Val)
c.25204A>G (p.Ile8402Val)
c.25201A>G (p.Ile8401Val)
c.25198A>G (p.Ile8400Val)
c.25354A>G (p.Ile8452Val)
c.25192A>G (p.Ile8398Val)
c.23632A>G (p.Ile7878Val)
c.23125A>G (p.Ile7709Val)
c.18592A>G (p.Ile6198Val)
c.1858A>G (p.Ile620Val)
c.25330A>G (p.Ile8444Val)
c.25279A>G (p.Ile8427Val)
c.25132A>G (p.Ile8378Val)
6g.152140156T>GCA366081053SYNE1c.1786A>C (p.Ile596Leu)
c.25252A>C (p.Ile8418Leu)
c.25108A>C (p.Ile8370Leu)
c.654A>C
c.987A>C
c.896A>C
c.1024A>C (p.Ile342Leu)
c.24037A>C (p.Ile8013Leu)
n.2000A>C
c.4087A>C (p.Ile1363Leu)
n.8944A>C
c.3190A>C (p.Ile1064Leu)
n.8836A>C
n.1866A>C
n.4274A>C
n.2089A>C
c.1717A>C (p.Ile573Leu)
c.25357A>C (p.Ile8453Leu)
c.25345A>C (p.Ile8449Leu)
c.25336A>C (p.Ile8446Leu)
c.25306A>C (p.Ile8436Leu)
c.25342A>C (p.Ile8448Leu)
c.25288A>C (p.Ile8430Leu)
c.25285A>C (p.Ile8429Leu)
c.25273A>C (p.Ile8425Leu)
c.25216A>C (p.Ile8406Leu)
c.25204A>C (p.Ile8402Leu)
c.25201A>C (p.Ile8401Leu)
c.25198A>C (p.Ile8400Leu)
c.25354A>C (p.Ile8452Leu)
c.25192A>C (p.Ile8398Leu)
c.23632A>C (p.Ile7878Leu)
c.23125A>C (p.Ile7709Leu)
c.18592A>C (p.Ile6198Leu)
c.1858A>C (p.Ile620Leu)
c.25330A>C (p.Ile8444Leu)
c.25279A>C (p.Ile8427Leu)
c.25132A>C (p.Ile8378Leu)
6g.152140156T=CA1673206457SYNE1c.1786A= (p.Ile596=)
c.25252A= (p.Ile8418=)
c.25108A= (p.Ile8370=)
c.654A=
c.987A=
c.896A=
c.1024A= (p.Ile342=)
c.24037A= (p.Ile8013=)
n.2000A=
c.4087A= (p.Ile1363=)
n.8944A=
c.3190A= (p.Ile1064=)
n.8836A=
n.1866A=
n.4274A=
n.2089A=
c.1717A= (p.Ile573=)
c.25357A= (p.Ile8453=)
c.25345A= (p.Ile8449=)
c.25336A= (p.Ile8446=)
c.25306A= (p.Ile8436=)
c.25342A= (p.Ile8448=)
c.25288A= (p.Ile8430=)
c.25285A= (p.Ile8429=)
c.25273A= (p.Ile8425=)
c.25216A= (p.Ile8406=)
c.25204A= (p.Ile8402=)
c.25201A= (p.Ile8401=)
c.25198A= (p.Ile8400=)
c.25354A= (p.Ile8452=)
c.25192A= (p.Ile8398=)
c.23632A= (p.Ile7878=)
c.23125A= (p.Ile7709=)
c.18592A= (p.Ile6198=)
c.1858A= (p.Ile620=)
c.25330A= (p.Ile8444=)
c.25279A= (p.Ile8427=)
c.25132A= (p.Ile8378=)
6g.152140157C>ACA452969979SYNE1c.1785G>T (p.Val595=)
c.25251G>T (p.Val8417=)
c.25107G>T (p.Val8369=)
c.653G>T
c.986G>T
c.895G>T
c.1023G>T (p.Val341=)
c.24036G>T (p.Val8012=)
n.1999G>T
c.4086G>T (p.Val1362=)
n.8943G>T
c.3189G>T (p.Val1063=)
n.8835G>T
n.1865G>T
n.4273G>T
n.2088G>T
c.1716G>T (p.Val572=)
c.25356G>T (p.Val8452=)
c.25344G>T (p.Val8448=)
c.25335G>T (p.Val8445=)
c.25305G>T (p.Val8435=)
c.25341G>T (p.Val8447=)
c.25287G>T (p.Val8429=)
c.25284G>T (p.Val8428=)
c.25272G>T (p.Val8424=)
c.25215G>T (p.Val8405=)
c.25203G>T (p.Val8401=)
c.25200G>T (p.Val8400=)
c.25197G>T (p.Val8399=)
c.25353G>T (p.Val8451=)
c.25191G>T (p.Val8397=)
c.23631G>T (p.Val7877=)
c.23124G>T (p.Val7708=)
c.18591G>T (p.Val6197=)
c.1857G>T (p.Val619=)
c.25329G>T (p.Val8443=)
c.25278G>T (p.Val8426=)
c.25131G>T (p.Val8377=)
6g.152140157C>GCA452969980SYNE1c.1785G>C (p.Val595=)
c.25251G>C (p.Val8417=)
c.25107G>C (p.Val8369=)
c.653G>C
c.986G>C
c.895G>C
c.1023G>C (p.Val341=)
c.24036G>C (p.Val8012=)
n.1999G>C
c.4086G>C (p.Val1362=)
n.8943G>C
c.3189G>C (p.Val1063=)
n.8835G>C
n.1865G>C
n.4273G>C
n.2088G>C
c.1716G>C (p.Val572=)
c.25356G>C (p.Val8452=)
c.25344G>C (p.Val8448=)
c.25335G>C (p.Val8445=)
c.25305G>C (p.Val8435=)
c.25341G>C (p.Val8447=)
c.25287G>C (p.Val8429=)
c.25284G>C (p.Val8428=)
c.25272G>C (p.Val8424=)
c.25215G>C (p.Val8405=)
c.25203G>C (p.Val8401=)
c.25200G>C (p.Val8400=)
c.25197G>C (p.Val8399=)
c.25353G>C (p.Val8451=)
c.25191G>C (p.Val8397=)
c.23631G>C (p.Val7877=)
c.23124G>C (p.Val7708=)
c.18591G>C (p.Val6197=)
c.1857G>C (p.Val619=)
c.25329G>C (p.Val8443=)
c.25278G>C (p.Val8426=)
c.25131G>C (p.Val8377=)
6g.152140157C>TCA452969978SYNE1c.1785G>A (p.Val595=)
c.25251G>A (p.Val8417=)
c.25107G>A (p.Val8369=)
c.653G>A
c.986G>A
c.895G>A
c.1023G>A (p.Val341=)
c.24036G>A (p.Val8012=)
n.1999G>A
c.4086G>A (p.Val1362=)
n.8943G>A
c.3189G>A (p.Val1063=)
n.8835G>A
n.1865G>A
n.4273G>A
n.2088G>A
c.1716G>A (p.Val572=)
c.25356G>A (p.Val8452=)
c.25344G>A (p.Val8448=)
c.25335G>A (p.Val8445=)
c.25305G>A (p.Val8435=)
c.25341G>A (p.Val8447=)
c.25287G>A (p.Val8429=)
c.25284G>A (p.Val8428=)
c.25272G>A (p.Val8424=)
c.25215G>A (p.Val8405=)
c.25203G>A (p.Val8401=)
c.25200G>A (p.Val8400=)
c.25197G>A (p.Val8399=)
c.25353G>A (p.Val8451=)
c.25191G>A (p.Val8397=)
c.23631G>A (p.Val7877=)
c.23124G>A (p.Val7708=)
c.18591G>A (p.Val6197=)
c.1857G>A (p.Val619=)
c.25329G>A (p.Val8443=)
c.25278G>A (p.Val8426=)
c.25131G>A (p.Val8377=)
 gnomAD v4
6g.152140158A>CCA366081055SYNE1c.1784T>G (p.Val595Gly)
c.25250T>G (p.Val8417Gly)
c.25106T>G (p.Val8369Gly)
c.652T>G
c.985T>G
c.894T>G
c.1022T>G (p.Val341Gly)
c.24035T>G (p.Val8012Gly)
n.1998T>G
c.4085T>G (p.Val1362Gly)
n.8942T>G
c.3188T>G (p.Val1063Gly)
n.8834T>G
n.1864T>G
n.4272T>G
n.2087T>G
c.1715T>G (p.Val572Gly)
c.25355T>G (p.Val8452Gly)
c.25343T>G (p.Val8448Gly)
c.25334T>G (p.Val8445Gly)
c.25304T>G (p.Val8435Gly)
c.25340T>G (p.Val8447Gly)
c.25286T>G (p.Val8429Gly)
c.25283T>G (p.Val8428Gly)
c.25271T>G (p.Val8424Gly)
c.25214T>G (p.Val8405Gly)
c.25202T>G (p.Val8401Gly)
c.25199T>G (p.Val8400Gly)
c.25196T>G (p.Val8399Gly)
c.25352T>G (p.Val8451Gly)
c.25190T>G (p.Val8397Gly)
c.23630T>G (p.Val7877Gly)
c.23123T>G (p.Val7708Gly)
c.18590T>G (p.Val6197Gly)
c.1856T>G (p.Val619Gly)
c.25328T>G (p.Val8443Gly)
c.25277T>G (p.Val8426Gly)
c.25130T>G (p.Val8377Gly)
6g.152140158A>GCA366081056SYNE1c.1784T>C (p.Val595Ala)
c.25250T>C (p.Val8417Ala)
c.25106T>C (p.Val8369Ala)
c.652T>C
c.985T>C
c.894T>C
c.1022T>C (p.Val341Ala)
c.24035T>C (p.Val8012Ala)
n.1998T>C
c.4085T>C (p.Val1362Ala)
n.8942T>C
c.3188T>C (p.Val1063Ala)
n.8834T>C
n.1864T>C
n.4272T>C
n.2087T>C
c.1715T>C (p.Val572Ala)
c.25355T>C (p.Val8452Ala)
c.25343T>C (p.Val8448Ala)
c.25334T>C (p.Val8445Ala)
c.25304T>C (p.Val8435Ala)
c.25340T>C (p.Val8447Ala)
c.25286T>C (p.Val8429Ala)
c.25283T>C (p.Val8428Ala)
c.25271T>C (p.Val8424Ala)
c.25214T>C (p.Val8405Ala)
c.25202T>C (p.Val8401Ala)
c.25199T>C (p.Val8400Ala)
c.25196T>C (p.Val8399Ala)
c.25352T>C (p.Val8451Ala)
c.25190T>C (p.Val8397Ala)
c.23630T>C (p.Val7877Ala)
c.23123T>C (p.Val7708Ala)
c.18590T>C (p.Val6197Ala)
c.1856T>C (p.Val619Ala)
c.25328T>C (p.Val8443Ala)
c.25277T>C (p.Val8426Ala)
c.25130T>C (p.Val8377Ala)
6g.152140158A>TCA366081057SYNE1c.1784T>A (p.Val595Glu)
c.25250T>A (p.Val8417Glu)
c.25106T>A (p.Val8369Glu)
c.652T>A
c.985T>A
c.894T>A
c.1022T>A (p.Val341Glu)
c.24035T>A (p.Val8012Glu)
n.1998T>A
c.4085T>A (p.Val1362Glu)
n.8942T>A
c.3188T>A (p.Val1063Glu)
n.8834T>A
n.1864T>A
n.4272T>A
n.2087T>A
c.1715T>A (p.Val572Glu)
c.25355T>A (p.Val8452Glu)
c.25343T>A (p.Val8448Glu)
c.25334T>A (p.Val8445Glu)
c.25304T>A (p.Val8435Glu)
c.25340T>A (p.Val8447Glu)
c.25286T>A (p.Val8429Glu)
c.25283T>A (p.Val8428Glu)
c.25271T>A (p.Val8424Glu)
c.25214T>A (p.Val8405Glu)
c.25202T>A (p.Val8401Glu)
c.25199T>A (p.Val8400Glu)
c.25196T>A (p.Val8399Glu)
c.25352T>A (p.Val8451Glu)
c.25190T>A (p.Val8397Glu)
c.23630T>A (p.Val7877Glu)
c.23123T>A (p.Val7708Glu)
c.18590T>A (p.Val6197Glu)
c.1856T>A (p.Val619Glu)
c.25328T>A (p.Val8443Glu)
c.25277T>A (p.Val8426Glu)
c.25130T>A (p.Val8377Glu)
6g.152140159C>ACA366081059SYNE1c.1783G>T (p.Val595Leu)
c.25249G>T (p.Val8417Leu)
c.25105G>T (p.Val8369Leu)
c.651G>T
c.984G>T
c.893G>T
c.1021G>T (p.Val341Leu)
c.24034G>T (p.Val8012Leu)
n.1997G>T
c.4084G>T (p.Val1362Leu)
n.8941G>T
c.3187G>T (p.Val1063Leu)
n.8833G>T
n.1863G>T
n.4271G>T
n.2086G>T
c.1714G>T (p.Val572Leu)
c.25354G>T (p.Val8452Leu)
c.25342G>T (p.Val8448Leu)
c.25333G>T (p.Val8445Leu)
c.25303G>T (p.Val8435Leu)
c.25339G>T (p.Val8447Leu)
c.25285G>T (p.Val8429Leu)
c.25282G>T (p.Val8428Leu)
c.25270G>T (p.Val8424Leu)
c.25213G>T (p.Val8405Leu)
c.25201G>T (p.Val8401Leu)
c.25198G>T (p.Val8400Leu)
c.25195G>T (p.Val8399Leu)
c.25351G>T (p.Val8451Leu)
c.25189G>T (p.Val8397Leu)
c.23629G>T (p.Val7877Leu)
c.23122G>T (p.Val7708Leu)
c.18589G>T (p.Val6197Leu)
c.1855G>T (p.Val619Leu)
c.25327G>T (p.Val8443Leu)
c.25276G>T (p.Val8426Leu)
c.25129G>T (p.Val8377Leu)
6g.152140159C>GCA366081061SYNE1c.1783G>C (p.Val595Leu)
c.25249G>C (p.Val8417Leu)
c.25105G>C (p.Val8369Leu)
c.651G>C
c.984G>C
c.893G>C
c.1021G>C (p.Val341Leu)
c.24034G>C (p.Val8012Leu)
n.1997G>C
c.4084G>C (p.Val1362Leu)
n.8941G>C
c.3187G>C (p.Val1063Leu)
n.8833G>C
n.1863G>C
n.4271G>C
n.2086G>C
c.1714G>C (p.Val572Leu)
c.25354G>C (p.Val8452Leu)
c.25342G>C (p.Val8448Leu)
c.25333G>C (p.Val8445Leu)
c.25303G>C (p.Val8435Leu)
c.25339G>C (p.Val8447Leu)
c.25285G>C (p.Val8429Leu)
c.25282G>C (p.Val8428Leu)
c.25270G>C (p.Val8424Leu)
c.25213G>C (p.Val8405Leu)
c.25201G>C (p.Val8401Leu)
c.25198G>C (p.Val8400Leu)
c.25195G>C (p.Val8399Leu)
c.25351G>C (p.Val8451Leu)
c.25189G>C (p.Val8397Leu)
c.23629G>C (p.Val7877Leu)
c.23122G>C (p.Val7708Leu)
c.18589G>C (p.Val6197Leu)
c.1855G>C (p.Val619Leu)
c.25327G>C (p.Val8443Leu)
c.25276G>C (p.Val8426Leu)
c.25129G>C (p.Val8377Leu)
6g.152140159C>TCA366081063SYNE1c.1783G>A (p.Val595Met)
c.25249G>A (p.Val8417Met)
c.25105G>A (p.Val8369Met)
c.651G>A
c.984G>A
c.893G>A
c.1021G>A (p.Val341Met)
c.24034G>A (p.Val8012Met)
n.1997G>A
c.4084G>A (p.Val1362Met)
n.8941G>A
c.3187G>A (p.Val1063Met)
n.8833G>A
n.1863G>A
n.4271G>A
n.2086G>A
c.1714G>A (p.Val572Met)
c.25354G>A (p.Val8452Met)
c.25342G>A (p.Val8448Met)
c.25333G>A (p.Val8445Met)
c.25303G>A (p.Val8435Met)
c.25339G>A (p.Val8447Met)
c.25285G>A (p.Val8429Met)
c.25282G>A (p.Val8428Met)
c.25270G>A (p.Val8424Met)
c.25213G>A (p.Val8405Met)
c.25201G>A (p.Val8401Met)
c.25198G>A (p.Val8400Met)
c.25195G>A (p.Val8399Met)
c.25351G>A (p.Val8451Met)
c.25189G>A (p.Val8397Met)
c.23629G>A (p.Val7877Met)
c.23122G>A (p.Val7708Met)
c.18589G>A (p.Val6197Met)
c.1855G>A (p.Val619Met)
c.25327G>A (p.Val8443Met)
c.25276G>A (p.Val8426Met)
c.25129G>A (p.Val8377Met)
6g.152140160A>CCA452969981SYNE1c.1782T>G (p.Gly594=)
c.25248T>G (p.Gly8416=)
c.25104T>G (p.Gly8368=)
c.650T>G
c.983T>G
c.892T>G
c.1020T>G (p.Gly340=)
c.24033T>G (p.Gly8011=)
n.1996T>G
c.4083T>G (p.Gly1361=)
n.8940T>G
c.3186T>G (p.Gly1062=)
n.8832T>G
n.1862T>G
n.4270T>G
n.2085T>G
c.1713T>G (p.Gly571=)
c.25353T>G (p.Gly8451=)
c.25341T>G (p.Gly8447=)
c.25332T>G (p.Gly8444=)
c.25302T>G (p.Gly8434=)
c.25338T>G (p.Gly8446=)
c.25284T>G (p.Gly8428=)
c.25281T>G (p.Gly8427=)
c.25269T>G (p.Gly8423=)
c.25212T>G (p.Gly8404=)
c.25200T>G (p.Gly8400=)
c.25197T>G (p.Gly8399=)
c.25194T>G (p.Gly8398=)
c.25350T>G (p.Gly8450=)
c.25188T>G (p.Gly8396=)
c.23628T>G (p.Gly7876=)
c.23121T>G (p.Gly7707=)
c.18588T>G (p.Gly6196=)
c.1854T>G (p.Gly618=)
c.25326T>G (p.Gly8442=)
c.25275T>G (p.Gly8425=)
c.25128T>G (p.Gly8376=)
 gnomAD v4
6g.152140160A>GCA452969982SYNE1c.1782T>C (p.Gly594=)
c.25248T>C (p.Gly8416=)
c.25104T>C (p.Gly8368=)
c.650T>C
c.983T>C
c.892T>C
c.1020T>C (p.Gly340=)
c.24033T>C (p.Gly8011=)
n.1996T>C
c.4083T>C (p.Gly1361=)
n.8940T>C
c.3186T>C (p.Gly1062=)
n.8832T>C
n.1862T>C
n.4270T>C
n.2085T>C
c.1713T>C (p.Gly571=)
c.25353T>C (p.Gly8451=)
c.25341T>C (p.Gly8447=)
c.25332T>C (p.Gly8444=)
c.25302T>C (p.Gly8434=)
c.25338T>C (p.Gly8446=)
c.25284T>C (p.Gly8428=)
c.25281T>C (p.Gly8427=)
c.25269T>C (p.Gly8423=)
c.25212T>C (p.Gly8404=)
c.25200T>C (p.Gly8400=)
c.25197T>C (p.Gly8399=)
c.25194T>C (p.Gly8398=)
c.25350T>C (p.Gly8450=)
c.25188T>C (p.Gly8396=)
c.23628T>C (p.Gly7876=)
c.23121T>C (p.Gly7707=)
c.18588T>C (p.Gly6196=)
c.1854T>C (p.Gly618=)
c.25326T>C (p.Gly8442=)
c.25275T>C (p.Gly8425=)
c.25128T>C (p.Gly8376=)
6g.152140160A>TCA452969983SYNE1c.1782T>A (p.Gly594=)
c.25248T>A (p.Gly8416=)
c.25104T>A (p.Gly8368=)
c.650T>A
c.983T>A
c.892T>A
c.1020T>A (p.Gly340=)
c.24033T>A (p.Gly8011=)
n.1996T>A
c.4083T>A (p.Gly1361=)
n.8940T>A
c.3186T>A (p.Gly1062=)
n.8832T>A
n.1862T>A
n.4270T>A
n.2085T>A
c.1713T>A (p.Gly571=)
c.25353T>A (p.Gly8451=)
c.25341T>A (p.Gly8447=)
c.25332T>A (p.Gly8444=)
c.25302T>A (p.Gly8434=)
c.25338T>A (p.Gly8446=)
c.25284T>A (p.Gly8428=)
c.25281T>A (p.Gly8427=)
c.25269T>A (p.Gly8423=)
c.25212T>A (p.Gly8404=)
c.25200T>A (p.Gly8400=)
c.25197T>A (p.Gly8399=)
c.25194T>A (p.Gly8398=)
c.25350T>A (p.Gly8450=)
c.25188T>A (p.Gly8396=)
c.23628T>A (p.Gly7876=)
c.23121T>A (p.Gly7707=)
c.18588T>A (p.Gly6196=)
c.1854T>A (p.Gly618=)
c.25326T>A (p.Gly8442=)
c.25275T>A (p.Gly8425=)
c.25128T>A (p.Gly8376=)
6g.152140161C>ACA366081066SYNE1c.1781G>T (p.Gly594Val)
c.25247G>T (p.Gly8416Val)
c.25103G>T (p.Gly8368Val)
c.649G>T
c.982G>T
c.891G>T
c.1019G>T (p.Gly340Val)
c.24032G>T (p.Gly8011Val)
n.1995G>T
c.4082G>T (p.Gly1361Val)
n.8939G>T
c.3185G>T (p.Gly1062Val)
n.8831G>T
n.1861G>T
n.4269G>T
n.2084G>T
c.1712G>T (p.Gly571Val)
c.25352G>T (p.Gly8451Val)
c.25340G>T (p.Gly8447Val)
c.25331G>T (p.Gly8444Val)
c.25301G>T (p.Gly8434Val)
c.25337G>T (p.Gly8446Val)
c.25283G>T (p.Gly8428Val)
c.25280G>T (p.Gly8427Val)
c.25268G>T (p.Gly8423Val)
c.25211G>T (p.Gly8404Val)
c.25199G>T (p.Gly8400Val)
c.25196G>T (p.Gly8399Val)
c.25193G>T (p.Gly8398Val)
c.25349G>T (p.Gly8450Val)
c.25187G>T (p.Gly8396Val)
c.23627G>T (p.Gly7876Val)
c.23120G>T (p.Gly7707Val)
c.18587G>T (p.Gly6196Val)
c.1853G>T (p.Gly618Val)
c.25325G>T (p.Gly8442Val)
c.25274G>T (p.Gly8425Val)
c.25127G>T (p.Gly8376Val)
6g.152140161C>GCA366081070SYNE1c.1781G>C (p.Gly594Ala)
c.25247G>C (p.Gly8416Ala)
c.25103G>C (p.Gly8368Ala)
c.649G>C
c.982G>C
c.891G>C
c.1019G>C (p.Gly340Ala)
c.24032G>C (p.Gly8011Ala)
n.1995G>C
c.4082G>C (p.Gly1361Ala)
n.8939G>C
c.3185G>C (p.Gly1062Ala)
n.8831G>C
n.1861G>C
n.4269G>C
n.2084G>C
c.1712G>C (p.Gly571Ala)
c.25352G>C (p.Gly8451Ala)
c.25340G>C (p.Gly8447Ala)
c.25331G>C (p.Gly8444Ala)
c.25301G>C (p.Gly8434Ala)
c.25337G>C (p.Gly8446Ala)
c.25283G>C (p.Gly8428Ala)
c.25280G>C (p.Gly8427Ala)
c.25268G>C (p.Gly8423Ala)
c.25211G>C (p.Gly8404Ala)
c.25199G>C (p.Gly8400Ala)
c.25196G>C (p.Gly8399Ala)
c.25193G>C (p.Gly8398Ala)
c.25349G>C (p.Gly8450Ala)
c.25187G>C (p.Gly8396Ala)
c.23627G>C (p.Gly7876Ala)
c.23120G>C (p.Gly7707Ala)
c.18587G>C (p.Gly6196Ala)
c.1853G>C (p.Gly618Ala)
c.25325G>C (p.Gly8442Ala)
c.25274G>C (p.Gly8425Ala)
c.25127G>C (p.Gly8376Ala)
6g.152140161C>TCA366081071SYNE1c.1781G>A (p.Gly594Asp)
c.25247G>A (p.Gly8416Asp)
c.25103G>A (p.Gly8368Asp)
c.649G>A
c.982G>A
c.891G>A
c.1019G>A (p.Gly340Asp)
c.24032G>A (p.Gly8011Asp)
n.1995G>A
c.4082G>A (p.Gly1361Asp)
n.8939G>A
c.3185G>A (p.Gly1062Asp)
n.8831G>A
n.1861G>A
n.4269G>A
n.2084G>A
c.1712G>A (p.Gly571Asp)
c.25352G>A (p.Gly8451Asp)
c.25340G>A (p.Gly8447Asp)
c.25331G>A (p.Gly8444Asp)
c.25301G>A (p.Gly8434Asp)
c.25337G>A (p.Gly8446Asp)
c.25283G>A (p.Gly8428Asp)
c.25280G>A (p.Gly8427Asp)
c.25268G>A (p.Gly8423Asp)
c.25211G>A (p.Gly8404Asp)
c.25199G>A (p.Gly8400Asp)
c.25196G>A (p.Gly8399Asp)
c.25193G>A (p.Gly8398Asp)
c.25349G>A (p.Gly8450Asp)
c.25187G>A (p.Gly8396Asp)
c.23627G>A (p.Gly7876Asp)
c.23120G>A (p.Gly7707Asp)
c.18587G>A (p.Gly6196Asp)
c.1853G>A (p.Gly618Asp)
c.25325G>A (p.Gly8442Asp)
c.25274G>A (p.Gly8425Asp)
c.25127G>A (p.Gly8376Asp)
 ClinVar
6g.152140162delCA2680812249SYNE1c.1781del
c.25247del
c.25103del
c.649del
c.982del
c.891del
c.1019del
c.24032del
n.1995del
c.4082del
n.8939del
c.3185del
n.8831del
n.1861del
n.4269del
n.2084del
c.1712del
c.25352del
c.25340del
c.25331del
c.25301del
c.25337del
c.25283del
c.25280del
c.25268del
c.25211del
c.25199del
c.25196del
c.25193del
c.25349del
c.25187del
c.23627del
c.23120del
c.18587del
c.1853del
c.25325del
c.25274del
c.25127del
 gnomAD v4
6g.152140162C>ACA366081073SYNE1c.1781-1G>T (n.1781-1G>T)
c.25247-1G>T (n.25247-1G>T)
c.25103-1G>T (n.25103-1G>T)
c.649-1G>T
c.982-1G>T
c.891-1G>T
c.1019-1G>T (n.1019-1G>T)
c.24032-1G>T (n.24032-1G>T)
n.1995-1G>T
c.4082-1G>T (n.4082-1G>T)
n.8939-1G>T
c.3185-1G>T (n.3185-1G>T)
n.8831-1G>T
n.1861-1G>T
n.4269-1G>T
n.2084-1G>T
c.1712-1G>T (n.1712-1G>T)
c.25352-1G>T (n.25352-1G>T)
c.25340-1G>T (n.25340-1G>T)
c.25331-1G>T (n.25331-1G>T)
c.25301-1G>T (n.25301-1G>T)
c.25337-1G>T (n.25337-1G>T)
c.25283-1G>T (n.25283-1G>T)
c.25280-1G>T (n.25280-1G>T)
c.25268-1G>T (n.25268-1G>T)
c.25211-1G>T (n.25211-1G>T)
c.25199-1G>T (n.25199-1G>T)
c.25196-1G>T (n.25196-1G>T)
c.25193-1G>T (n.25193-1G>T)
c.25349-1G>T (n.25349-1G>T)
c.25187-1G>T (n.25187-1G>T)
c.23627-1G>T (n.23627-1G>T)
c.23120-1G>T (n.23120-1G>T)
c.18587-1G>T (n.18587-1G>T)
c.1853-1G>T (n.1853-1G>T)
c.25325-1G>T (n.25325-1G>T)
c.25274-1G>T (n.25274-1G>T)
c.25127-1G>T (n.25127-1G>T)
6g.152140162C=CA1673206461SYNE1c.1781-1G= (n.1781-1G=)
c.25247-1G= (n.25247-1G=)
c.25103-1G= (n.25103-1G=)
c.649-1G=
c.982-1G=
c.891-1G=
c.1019-1G= (n.1019-1G=)
c.24032-1G= (n.24032-1G=)
n.1995-1G=
c.4082-1G= (n.4082-1G=)
n.8939-1G=
c.3185-1G= (n.3185-1G=)
n.8831-1G=
n.1861-1G=
n.4269-1G=
n.2084-1G=
c.1712-1G= (n.1712-1G=)
c.25352-1G= (n.25352-1G=)
c.25340-1G= (n.25340-1G=)
c.25331-1G= (n.25331-1G=)
c.25301-1G= (n.25301-1G=)
c.25337-1G= (n.25337-1G=)
c.25283-1G= (n.25283-1G=)
c.25280-1G= (n.25280-1G=)
c.25268-1G= (n.25268-1G=)
c.25211-1G= (n.25211-1G=)
c.25199-1G= (n.25199-1G=)
c.25196-1G= (n.25196-1G=)
c.25193-1G= (n.25193-1G=)
c.25349-1G= (n.25349-1G=)
c.25187-1G= (n.25187-1G=)
c.23627-1G= (n.23627-1G=)
c.23120-1G= (n.23120-1G=)
c.18587-1G= (n.18587-1G=)
c.1853-1G= (n.1853-1G=)
c.25325-1G= (n.25325-1G=)
c.25274-1G= (n.25274-1G=)
c.25127-1G= (n.25127-1G=)
6g.152140162C>GCA4052874SYNE1c.1781-1G>C (n.1781-1G>C)
c.25247-1G>C (n.25247-1G>C)
c.25103-1G>C (n.25103-1G>C)
c.649-1G>C
c.982-1G>C
c.891-1G>C
c.1019-1G>C (n.1019-1G>C)
c.24032-1G>C (n.24032-1G>C)
n.1995-1G>C
c.4082-1G>C (n.4082-1G>C)
n.8939-1G>C
c.3185-1G>C (n.3185-1G>C)
n.8831-1G>C
n.1861-1G>C
n.4269-1G>C
n.2084-1G>C
c.1712-1G>C (n.1712-1G>C)
c.25352-1G>C (n.25352-1G>C)
c.25340-1G>C (n.25340-1G>C)
c.25331-1G>C (n.25331-1G>C)
c.25301-1G>C (n.25301-1G>C)
c.25337-1G>C (n.25337-1G>C)
c.25283-1G>C (n.25283-1G>C)
c.25280-1G>C (n.25280-1G>C)
c.25268-1G>C (n.25268-1G>C)
c.25211-1G>C (n.25211-1G>C)
c.25199-1G>C (n.25199-1G>C)
c.25196-1G>C (n.25196-1G>C)
c.25193-1G>C (n.25193-1G>C)
c.25349-1G>C (n.25349-1G>C)
c.25187-1G>C (n.25187-1G>C)
c.23627-1G>C (n.23627-1G>C)
c.23120-1G>C (n.23120-1G>C)
c.18587-1G>C (n.18587-1G>C)
c.1853-1G>C (n.1853-1G>C)
c.25325-1G>C (n.25325-1G>C)
c.25274-1G>C (n.25274-1G>C)
c.25127-1G>C (n.25127-1G>C)
 dbSNP ExAC gnomAD v2
6g.152140162C>TCA366081077SYNE1c.1781-1G>A (n.1781-1G>A)
c.25247-1G>A (n.25247-1G>A)
c.25103-1G>A (n.25103-1G>A)
c.649-1G>A
c.982-1G>A
c.891-1G>A
c.1019-1G>A (n.1019-1G>A)
c.24032-1G>A (n.24032-1G>A)
n.1995-1G>A
c.4082-1G>A (n.4082-1G>A)
n.8939-1G>A
c.3185-1G>A (n.3185-1G>A)
n.8831-1G>A
n.1861-1G>A
n.4269-1G>A
n.2084-1G>A
c.1712-1G>A (n.1712-1G>A)
c.25352-1G>A (n.25352-1G>A)
c.25340-1G>A (n.25340-1G>A)
c.25331-1G>A (n.25331-1G>A)
c.25301-1G>A (n.25301-1G>A)
c.25337-1G>A (n.25337-1G>A)
c.25283-1G>A (n.25283-1G>A)
c.25280-1G>A (n.25280-1G>A)
c.25268-1G>A (n.25268-1G>A)
c.25211-1G>A (n.25211-1G>A)
c.25199-1G>A (n.25199-1G>A)
c.25196-1G>A (n.25196-1G>A)
c.25193-1G>A (n.25193-1G>A)
c.25349-1G>A (n.25349-1G>A)
c.25187-1G>A (n.25187-1G>A)
c.23627-1G>A (n.23627-1G>A)
c.23120-1G>A (n.23120-1G>A)
c.18587-1G>A (n.18587-1G>A)
c.1853-1G>A (n.1853-1G>A)
c.25325-1G>A (n.25325-1G>A)
c.25274-1G>A (n.25274-1G>A)
c.25127-1G>A (n.25127-1G>A)
6g.152140163T>ACA366081084SYNE1c.1781-2A>T (n.1781-2A>T)
c.25247-2A>T (n.25247-2A>T)
c.25103-2A>T (n.25103-2A>T)
c.649-2A>T
c.982-2A>T
c.891-2A>T
c.1019-2A>T (n.1019-2A>T)
c.24032-2A>T (n.24032-2A>T)
n.1995-2A>T
c.4082-2A>T (n.4082-2A>T)
n.8939-2A>T
c.3185-2A>T (n.3185-2A>T)
n.8831-2A>T
n.1861-2A>T
n.4269-2A>T
n.2084-2A>T
c.1712-2A>T (n.1712-2A>T)
c.25352-2A>T (n.25352-2A>T)
c.25340-2A>T (n.25340-2A>T)
c.25331-2A>T (n.25331-2A>T)
c.25301-2A>T (n.25301-2A>T)
c.25337-2A>T (n.25337-2A>T)
c.25283-2A>T (n.25283-2A>T)
c.25280-2A>T (n.25280-2A>T)
c.25268-2A>T (n.25268-2A>T)
c.25211-2A>T (n.25211-2A>T)
c.25199-2A>T (n.25199-2A>T)
c.25196-2A>T (n.25196-2A>T)
c.25193-2A>T (n.25193-2A>T)
c.25349-2A>T (n.25349-2A>T)
c.25187-2A>T (n.25187-2A>T)
c.23627-2A>T (n.23627-2A>T)
c.23120-2A>T (n.23120-2A>T)
c.18587-2A>T (n.18587-2A>T)
c.1853-2A>T (n.1853-2A>T)
c.25325-2A>T (n.25325-2A>T)
c.25274-2A>T (n.25274-2A>T)
c.25127-2A>T (n.25127-2A>T)
6g.152140163T>CCA366081081SYNE1c.1781-2A>G (n.1781-2A>G)
c.25247-2A>G (n.25247-2A>G)
c.25103-2A>G (n.25103-2A>G)
c.649-2A>G
c.982-2A>G
c.891-2A>G
c.1019-2A>G (n.1019-2A>G)
c.24032-2A>G (n.24032-2A>G)
n.1995-2A>G
c.4082-2A>G (n.4082-2A>G)
n.8939-2A>G
c.3185-2A>G (n.3185-2A>G)
n.8831-2A>G
n.1861-2A>G
n.4269-2A>G
n.2084-2A>G
c.1712-2A>G (n.1712-2A>G)
c.25352-2A>G (n.25352-2A>G)
c.25340-2A>G (n.25340-2A>G)
c.25331-2A>G (n.25331-2A>G)
c.25301-2A>G (n.25301-2A>G)
c.25337-2A>G (n.25337-2A>G)
c.25283-2A>G (n.25283-2A>G)
c.25280-2A>G (n.25280-2A>G)
c.25268-2A>G (n.25268-2A>G)
c.25211-2A>G (n.25211-2A>G)
c.25199-2A>G (n.25199-2A>G)
c.25196-2A>G (n.25196-2A>G)
c.25193-2A>G (n.25193-2A>G)
c.25349-2A>G (n.25349-2A>G)
c.25187-2A>G (n.25187-2A>G)
c.23627-2A>G (n.23627-2A>G)
c.23120-2A>G (n.23120-2A>G)
c.18587-2A>G (n.18587-2A>G)
c.1853-2A>G (n.1853-2A>G)
c.25325-2A>G (n.25325-2A>G)
c.25274-2A>G (n.25274-2A>G)
c.25127-2A>G (n.25127-2A>G)
6g.152140163T>GCA366081083SYNE1c.1781-2A>C (n.1781-2A>C)
c.25247-2A>C (n.25247-2A>C)
c.25103-2A>C (n.25103-2A>C)
c.649-2A>C
c.982-2A>C
c.891-2A>C
c.1019-2A>C (n.1019-2A>C)
c.24032-2A>C (n.24032-2A>C)
n.1995-2A>C
c.4082-2A>C (n.4082-2A>C)
n.8939-2A>C
c.3185-2A>C (n.3185-2A>C)
n.8831-2A>C
n.1861-2A>C
n.4269-2A>C
n.2084-2A>C
c.1712-2A>C (n.1712-2A>C)
c.25352-2A>C (n.25352-2A>C)
c.25340-2A>C (n.25340-2A>C)
c.25331-2A>C (n.25331-2A>C)
c.25301-2A>C (n.25301-2A>C)
c.25337-2A>C (n.25337-2A>C)
c.25283-2A>C (n.25283-2A>C)
c.25280-2A>C (n.25280-2A>C)
c.25268-2A>C (n.25268-2A>C)
c.25211-2A>C (n.25211-2A>C)
c.25199-2A>C (n.25199-2A>C)
c.25196-2A>C (n.25196-2A>C)
c.25193-2A>C (n.25193-2A>C)
c.25349-2A>C (n.25349-2A>C)
c.25187-2A>C (n.25187-2A>C)
c.23627-2A>C (n.23627-2A>C)
c.23120-2A>C (n.23120-2A>C)
c.18587-2A>C (n.18587-2A>C)
c.1853-2A>C (n.1853-2A>C)
c.25325-2A>C (n.25325-2A>C)
c.25274-2A>C (n.25274-2A>C)
c.25127-2A>C (n.25127-2A>C)
6g.152140165G>TCA2680812250SYNE1c.1781-4C>A (n.1781-4C>A)
c.25247-4C>A (n.25247-4C>A)
c.25103-4C>A (n.25103-4C>A)
c.649-4C>A
c.982-4C>A
c.891-4C>A
c.1019-4C>A (n.1019-4C>A)
c.24032-4C>A (n.24032-4C>A)
n.1995-4C>A
c.4082-4C>A (n.4082-4C>A)
n.8939-4C>A
c.3185-4C>A (n.3185-4C>A)
n.8831-4C>A
n.1861-4C>A
n.4269-4C>A
n.2084-4C>A
c.1712-4C>A (n.1712-4C>A)
c.25352-4C>A (n.25352-4C>A)
c.25340-4C>A (n.25340-4C>A)
c.25331-4C>A (n.25331-4C>A)
c.25301-4C>A (n.25301-4C>A)
c.25337-4C>A (n.25337-4C>A)
c.25283-4C>A (n.25283-4C>A)
c.25280-4C>A (n.25280-4C>A)
c.25268-4C>A (n.25268-4C>A)
c.25211-4C>A (n.25211-4C>A)
c.25199-4C>A (n.25199-4C>A)
c.25196-4C>A (n.25196-4C>A)
c.25193-4C>A (n.25193-4C>A)
c.25349-4C>A (n.25349-4C>A)
c.25187-4C>A (n.25187-4C>A)
c.23627-4C>A (n.23627-4C>A)
c.23120-4C>A (n.23120-4C>A)
c.18587-4C>A (n.18587-4C>A)
c.1853-4C>A (n.1853-4C>A)
c.25325-4C>A (n.25325-4C>A)
c.25274-4C>A (n.25274-4C>A)
c.25127-4C>A (n.25127-4C>A)
 gnomAD v4
6g.152140167A>GCA2680812252SYNE1c.1781-6T>C (n.1781-6T>C)
c.25247-6T>C (n.25247-6T>C)
c.25103-6T>C (n.25103-6T>C)
c.649-6T>C
c.982-6T>C
c.891-6T>C
c.1019-6T>C (n.1019-6T>C)
c.24032-6T>C (n.24032-6T>C)
n.1995-6T>C
c.4082-6T>C (n.4082-6T>C)
n.8939-6T>C
c.3185-6T>C (n.3185-6T>C)
n.8831-6T>C
n.1861-6T>C
n.4269-6T>C
n.2084-6T>C
c.1712-6T>C (n.1712-6T>C)
c.25352-6T>C (n.25352-6T>C)
c.25340-6T>C (n.25340-6T>C)
c.25331-6T>C (n.25331-6T>C)
c.25301-6T>C (n.25301-6T>C)
c.25337-6T>C (n.25337-6T>C)
c.25283-6T>C (n.25283-6T>C)
c.25280-6T>C (n.25280-6T>C)
c.25268-6T>C (n.25268-6T>C)
c.25211-6T>C (n.25211-6T>C)
c.25199-6T>C (n.25199-6T>C)
c.25196-6T>C (n.25196-6T>C)
c.25193-6T>C (n.25193-6T>C)
c.25349-6T>C (n.25349-6T>C)
c.25187-6T>C (n.25187-6T>C)
c.23627-6T>C (n.23627-6T>C)
c.23120-6T>C (n.23120-6T>C)
c.18587-6T>C (n.18587-6T>C)
c.1853-6T>C (n.1853-6T>C)
c.25325-6T>C (n.25325-6T>C)
c.25274-6T>C (n.25274-6T>C)
c.25127-6T>C (n.25127-6T>C)
 gnomAD v4
6g.152140168delCA2680812251SYNE1c.1781-6del (n.1781-6del)
c.25247-6del (n.25247-6del)
c.25103-6del (n.25103-6del)
c.649-6del
c.982-6del
c.891-6del
c.1019-6del (n.1019-6del)
c.24032-6del (n.24032-6del)
n.1995-6del
c.4082-6del (n.4082-6del)
n.8939-6del
c.3185-6del (n.3185-6del)
n.8831-6del
n.1861-6del
n.4269-6del
n.2084-6del
c.1712-6del (n.1712-6del)
c.25352-6del (n.25352-6del)
c.25340-6del (n.25340-6del)
c.25331-6del (n.25331-6del)
c.25301-6del (n.25301-6del)
c.25337-6del (n.25337-6del)
c.25283-6del (n.25283-6del)
c.25280-6del (n.25280-6del)
c.25268-6del (n.25268-6del)
c.25211-6del (n.25211-6del)
c.25199-6del (n.25199-6del)
c.25196-6del (n.25196-6del)
c.25193-6del (n.25193-6del)
c.25349-6del (n.25349-6del)
c.25187-6del (n.25187-6del)
c.23627-6del (n.23627-6del)
c.23120-6del (n.23120-6del)
c.18587-6del (n.18587-6del)
c.1853-6del (n.1853-6del)
c.25325-6del (n.25325-6del)
c.25274-6del (n.25274-6del)
c.25127-6del (n.25127-6del)
 gnomAD v4
6g.152140168A=CA1673206466SYNE1c.1781-7T= (n.1781-7T=)
c.25247-7T= (n.25247-7T=)
c.25103-7T= (n.25103-7T=)
c.649-7T=
c.982-7T=
c.891-7T=
c.1019-7T= (n.1019-7T=)
c.24032-7T= (n.24032-7T=)
n.1995-7T=
c.4082-7T= (n.4082-7T=)
n.8939-7T=
c.3185-7T= (n.3185-7T=)
n.8831-7T=
n.1861-7T=
n.4269-7T=
n.2084-7T=
c.1712-7T= (n.1712-7T=)
c.25352-7T= (n.25352-7T=)
c.25340-7T= (n.25340-7T=)
c.25331-7T= (n.25331-7T=)
c.25301-7T= (n.25301-7T=)
c.25337-7T= (n.25337-7T=)
c.25283-7T= (n.25283-7T=)
c.25280-7T= (n.25280-7T=)
c.25268-7T= (n.25268-7T=)
c.25211-7T= (n.25211-7T=)
c.25199-7T= (n.25199-7T=)
c.25196-7T= (n.25196-7T=)
c.25193-7T= (n.25193-7T=)
c.25349-7T= (n.25349-7T=)
c.25187-7T= (n.25187-7T=)
c.23627-7T= (n.23627-7T=)
c.23120-7T= (n.23120-7T=)
c.18587-7T= (n.18587-7T=)
c.1853-7T= (n.1853-7T=)
c.25325-7T= (n.25325-7T=)
c.25274-7T= (n.25274-7T=)
c.25127-7T= (n.25127-7T=)
6g.152140168A>GCA571437357SYNE1c.1781-7T>C (n.1781-7T>C)
c.25247-7T>C (n.25247-7T>C)
c.25103-7T>C (n.25103-7T>C)
c.649-7T>C
c.982-7T>C
c.891-7T>C
c.1019-7T>C (n.1019-7T>C)
c.24032-7T>C (n.24032-7T>C)
n.1995-7T>C
c.4082-7T>C (n.4082-7T>C)
n.8939-7T>C
c.3185-7T>C (n.3185-7T>C)
n.8831-7T>C
n.1861-7T>C
n.4269-7T>C
n.2084-7T>C
c.1712-7T>C (n.1712-7T>C)
c.25352-7T>C (n.25352-7T>C)
c.25340-7T>C (n.25340-7T>C)
c.25331-7T>C (n.25331-7T>C)
c.25301-7T>C (n.25301-7T>C)
c.25337-7T>C (n.25337-7T>C)
c.25283-7T>C (n.25283-7T>C)
c.25280-7T>C (n.25280-7T>C)
c.25268-7T>C (n.25268-7T>C)
c.25211-7T>C (n.25211-7T>C)
c.25199-7T>C (n.25199-7T>C)
c.25196-7T>C (n.25196-7T>C)
c.25193-7T>C (n.25193-7T>C)
c.25349-7T>C (n.25349-7T>C)
c.25187-7T>C (n.25187-7T>C)
c.23627-7T>C (n.23627-7T>C)
c.23120-7T>C (n.23120-7T>C)
c.18587-7T>C (n.18587-7T>C)
c.1853-7T>C (n.1853-7T>C)
c.25325-7T>C (n.25325-7T>C)
c.25274-7T>C (n.25274-7T>C)
c.25127-7T>C (n.25127-7T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.152140169G>TCA2680812253SYNE1c.1781-8C>A (n.1781-8C>A)
c.25247-8C>A (n.25247-8C>A)
c.25103-8C>A (n.25103-8C>A)
c.649-8C>A
c.982-8C>A
c.891-8C>A
c.1019-8C>A (n.1019-8C>A)
c.24032-8C>A (n.24032-8C>A)
n.1995-8C>A
c.4082-8C>A (n.4082-8C>A)
n.8939-8C>A
c.3185-8C>A (n.3185-8C>A)
n.8831-8C>A
n.1861-8C>A
n.4269-8C>A
n.2084-8C>A
c.1712-8C>A (n.1712-8C>A)
c.25352-8C>A (n.25352-8C>A)
c.25340-8C>A (n.25340-8C>A)
c.25331-8C>A (n.25331-8C>A)
c.25301-8C>A (n.25301-8C>A)
c.25337-8C>A (n.25337-8C>A)
c.25283-8C>A (n.25283-8C>A)
c.25280-8C>A (n.25280-8C>A)
c.25268-8C>A (n.25268-8C>A)
c.25211-8C>A (n.25211-8C>A)
c.25199-8C>A (n.25199-8C>A)
c.25196-8C>A (n.25196-8C>A)
c.25193-8C>A (n.25193-8C>A)
c.25349-8C>A (n.25349-8C>A)
c.25187-8C>A (n.25187-8C>A)
c.23627-8C>A (n.23627-8C>A)
c.23120-8C>A (n.23120-8C>A)
c.18587-8C>A (n.18587-8C>A)
c.1853-8C>A (n.1853-8C>A)
c.25325-8C>A (n.25325-8C>A)
c.25274-8C>A (n.25274-8C>A)
c.25127-8C>A (n.25127-8C>A)
 gnomAD v4
6g.152140170A>CCA2531941924SYNE1c.1781-9T>G (n.1781-9T>G)
c.25247-9T>G (n.25247-9T>G)
c.25103-9T>G (n.25103-9T>G)
c.649-9T>G
c.982-9T>G
c.891-9T>G
c.1019-9T>G (n.1019-9T>G)
c.24032-9T>G (n.24032-9T>G)
n.1995-9T>G
c.4082-9T>G (n.4082-9T>G)
n.8939-9T>G
c.3185-9T>G (n.3185-9T>G)
n.8831-9T>G
n.1861-9T>G
n.4269-9T>G
n.2084-9T>G
c.1712-9T>G (n.1712-9T>G)
c.25352-9T>G (n.25352-9T>G)
c.25340-9T>G (n.25340-9T>G)
c.25331-9T>G (n.25331-9T>G)
c.25301-9T>G (n.25301-9T>G)
c.25337-9T>G (n.25337-9T>G)
c.25283-9T>G (n.25283-9T>G)
c.25280-9T>G (n.25280-9T>G)
c.25268-9T>G (n.25268-9T>G)
c.25211-9T>G (n.25211-9T>G)
c.25199-9T>G (n.25199-9T>G)
c.25196-9T>G (n.25196-9T>G)
c.25193-9T>G (n.25193-9T>G)
c.25349-9T>G (n.25349-9T>G)
c.25187-9T>G (n.25187-9T>G)
c.23627-9T>G (n.23627-9T>G)
c.23120-9T>G (n.23120-9T>G)
c.18587-9T>G (n.18587-9T>G)
c.1853-9T>G (n.1853-9T>G)
c.25325-9T>G (n.25325-9T>G)
c.25274-9T>G (n.25274-9T>G)
c.25127-9T>G (n.25127-9T>G)
 gnomAD v4
6g.152140170A>GCA2680812254SYNE1c.1781-9T>C (n.1781-9T>C)
c.25247-9T>C (n.25247-9T>C)
c.25103-9T>C (n.25103-9T>C)
c.649-9T>C
c.982-9T>C
c.891-9T>C
c.1019-9T>C (n.1019-9T>C)
c.24032-9T>C (n.24032-9T>C)
n.1995-9T>C
c.4082-9T>C (n.4082-9T>C)
n.8939-9T>C
c.3185-9T>C (n.3185-9T>C)
n.8831-9T>C
n.1861-9T>C
n.4269-9T>C
n.2084-9T>C
c.1712-9T>C (n.1712-9T>C)
c.25352-9T>C (n.25352-9T>C)
c.25340-9T>C (n.25340-9T>C)
c.25331-9T>C (n.25331-9T>C)
c.25301-9T>C (n.25301-9T>C)
c.25337-9T>C (n.25337-9T>C)
c.25283-9T>C (n.25283-9T>C)
c.25280-9T>C (n.25280-9T>C)
c.25268-9T>C (n.25268-9T>C)
c.25211-9T>C (n.25211-9T>C)
c.25199-9T>C (n.25199-9T>C)
c.25196-9T>C (n.25196-9T>C)
c.25193-9T>C (n.25193-9T>C)
c.25349-9T>C (n.25349-9T>C)
c.25187-9T>C (n.25187-9T>C)
c.23627-9T>C (n.23627-9T>C)
c.23120-9T>C (n.23120-9T>C)
c.18587-9T>C (n.18587-9T>C)
c.1853-9T>C (n.1853-9T>C)
c.25325-9T>C (n.25325-9T>C)
c.25274-9T>C (n.25274-9T>C)
c.25127-9T>C (n.25127-9T>C)
 gnomAD v4
6g.152140171C>TCA2740799408SYNE1c.1781-10G>A (n.1781-10G>A)
c.25247-10G>A (n.25247-10G>A)
c.25103-10G>A (n.25103-10G>A)
c.649-10G>A
c.982-10G>A
c.891-10G>A
c.1019-10G>A (n.1019-10G>A)
c.24032-10G>A (n.24032-10G>A)
n.1995-10G>A
c.4082-10G>A (n.4082-10G>A)
n.8939-10G>A
c.3185-10G>A (n.3185-10G>A)
n.8831-10G>A
n.1861-10G>A
n.4269-10G>A
n.2084-10G>A
c.1712-10G>A (n.1712-10G>A)
c.25352-10G>A (n.25352-10G>A)
c.25340-10G>A (n.25340-10G>A)
c.25331-10G>A (n.25331-10G>A)
c.25301-10G>A (n.25301-10G>A)
c.25337-10G>A (n.25337-10G>A)
c.25283-10G>A (n.25283-10G>A)
c.25280-10G>A (n.25280-10G>A)
c.25268-10G>A (n.25268-10G>A)
c.25211-10G>A (n.25211-10G>A)
c.25199-10G>A (n.25199-10G>A)
c.25196-10G>A (n.25196-10G>A)
c.25193-10G>A (n.25193-10G>A)
c.25349-10G>A (n.25349-10G>A)
c.25187-10G>A (n.25187-10G>A)
c.23627-10G>A (n.23627-10G>A)
c.23120-10G>A (n.23120-10G>A)
c.18587-10G>A (n.18587-10G>A)
c.1853-10G>A (n.1853-10G>A)
c.25325-10G>A (n.25325-10G>A)
c.25274-10G>A (n.25274-10G>A)
c.25127-10G>A (n.25127-10G>A)
6g.152140173T>CCA571437358SYNE1c.1781-12A>G (n.1781-12A>G)
c.25247-12A>G (n.25247-12A>G)
c.25103-12A>G (n.25103-12A>G)
c.649-12A>G
c.982-12A>G
c.891-12A>G
c.1019-12A>G (n.1019-12A>G)
c.24032-12A>G (n.24032-12A>G)
n.1995-12A>G
c.4082-12A>G (n.4082-12A>G)
n.8939-12A>G
c.3185-12A>G (n.3185-12A>G)
n.8831-12A>G
n.1861-12A>G
n.4269-12A>G
n.2084-12A>G
c.1712-12A>G (n.1712-12A>G)
c.25352-12A>G (n.25352-12A>G)
c.25340-12A>G (n.25340-12A>G)
c.25331-12A>G (n.25331-12A>G)
c.25301-12A>G (n.25301-12A>G)
c.25337-12A>G (n.25337-12A>G)
c.25283-12A>G (n.25283-12A>G)
c.25280-12A>G (n.25280-12A>G)
c.25268-12A>G (n.25268-12A>G)
c.25211-12A>G (n.25211-12A>G)
c.25199-12A>G (n.25199-12A>G)
c.25196-12A>G (n.25196-12A>G)
c.25193-12A>G (n.25193-12A>G)
c.25349-12A>G (n.25349-12A>G)
c.25187-12A>G (n.25187-12A>G)
c.23627-12A>G (n.23627-12A>G)
c.23120-12A>G (n.23120-12A>G)
c.18587-12A>G (n.18587-12A>G)
c.1853-12A>G (n.1853-12A>G)
c.25325-12A>G (n.25325-12A>G)
c.25274-12A>G (n.25274-12A>G)
c.25127-12A>G (n.25127-12A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140173T>GCA2578773166SYNE1c.1781-12A>C (n.1781-12A>C)
c.25247-12A>C (n.25247-12A>C)
c.25103-12A>C (n.25103-12A>C)
c.649-12A>C
c.982-12A>C
c.891-12A>C
c.1019-12A>C (n.1019-12A>C)
c.24032-12A>C (n.24032-12A>C)
n.1995-12A>C
c.4082-12A>C (n.4082-12A>C)
n.8939-12A>C
c.3185-12A>C (n.3185-12A>C)
n.8831-12A>C
n.1861-12A>C
n.4269-12A>C
n.2084-12A>C
c.1712-12A>C (n.1712-12A>C)
c.25352-12A>C (n.25352-12A>C)
c.25340-12A>C (n.25340-12A>C)
c.25331-12A>C (n.25331-12A>C)
c.25301-12A>C (n.25301-12A>C)
c.25337-12A>C (n.25337-12A>C)
c.25283-12A>C (n.25283-12A>C)
c.25280-12A>C (n.25280-12A>C)
c.25268-12A>C (n.25268-12A>C)
c.25211-12A>C (n.25211-12A>C)
c.25199-12A>C (n.25199-12A>C)
c.25196-12A>C (n.25196-12A>C)
c.25193-12A>C (n.25193-12A>C)
c.25349-12A>C (n.25349-12A>C)
c.25187-12A>C (n.25187-12A>C)
c.23627-12A>C (n.23627-12A>C)
c.23120-12A>C (n.23120-12A>C)
c.18587-12A>C (n.18587-12A>C)
c.1853-12A>C (n.1853-12A>C)
c.25325-12A>C (n.25325-12A>C)
c.25274-12A>C (n.25274-12A>C)
c.25127-12A>C (n.25127-12A>C)
 gnomAD v4
6g.152140173T=CA1673206470SYNE1c.1781-12A= (n.1781-12A=)
c.25247-12A= (n.25247-12A=)
c.25103-12A= (n.25103-12A=)
c.649-12A=
c.982-12A=
c.891-12A=
c.1019-12A= (n.1019-12A=)
c.24032-12A= (n.24032-12A=)
n.1995-12A=
c.4082-12A= (n.4082-12A=)
n.8939-12A=
c.3185-12A= (n.3185-12A=)
n.8831-12A=
n.1861-12A=
n.4269-12A=
n.2084-12A=
c.1712-12A= (n.1712-12A=)
c.25352-12A= (n.25352-12A=)
c.25340-12A= (n.25340-12A=)
c.25331-12A= (n.25331-12A=)
c.25301-12A= (n.25301-12A=)
c.25337-12A= (n.25337-12A=)
c.25283-12A= (n.25283-12A=)
c.25280-12A= (n.25280-12A=)
c.25268-12A= (n.25268-12A=)
c.25211-12A= (n.25211-12A=)
c.25199-12A= (n.25199-12A=)
c.25196-12A= (n.25196-12A=)
c.25193-12A= (n.25193-12A=)
c.25349-12A= (n.25349-12A=)
c.25187-12A= (n.25187-12A=)
c.23627-12A= (n.23627-12A=)
c.23120-12A= (n.23120-12A=)
c.18587-12A= (n.18587-12A=)
c.1853-12A= (n.1853-12A=)
c.25325-12A= (n.25325-12A=)
c.25274-12A= (n.25274-12A=)
c.25127-12A= (n.25127-12A=)
6g.152140175C=CA1673206473SYNE1c.1781-14G= (n.1781-14G=)
c.25247-14G= (n.25247-14G=)
c.25103-14G= (n.25103-14G=)
c.649-14G=
c.982-14G=
c.891-14G=
c.1019-14G= (n.1019-14G=)
c.24032-14G= (n.24032-14G=)
n.1995-14G=
c.4082-14G= (n.4082-14G=)
n.8939-14G=
c.3185-14G= (n.3185-14G=)
n.8831-14G=
n.1861-14G=
n.4269-14G=
n.2084-14G=
c.1712-14G= (n.1712-14G=)
c.25352-14G= (n.25352-14G=)
c.25340-14G= (n.25340-14G=)
c.25331-14G= (n.25331-14G=)
c.25301-14G= (n.25301-14G=)
c.25337-14G= (n.25337-14G=)
c.25283-14G= (n.25283-14G=)
c.25280-14G= (n.25280-14G=)
c.25268-14G= (n.25268-14G=)
c.25211-14G= (n.25211-14G=)
c.25199-14G= (n.25199-14G=)
c.25196-14G= (n.25196-14G=)
c.25193-14G= (n.25193-14G=)
c.25349-14G= (n.25349-14G=)
c.25187-14G= (n.25187-14G=)
c.23627-14G= (n.23627-14G=)
c.23120-14G= (n.23120-14G=)
c.18587-14G= (n.18587-14G=)
c.1853-14G= (n.1853-14G=)
c.25325-14G= (n.25325-14G=)
c.25274-14G= (n.25274-14G=)
c.25127-14G= (n.25127-14G=)
6g.152140175C>TCA571437359SYNE1c.1781-14G>A (n.1781-14G>A)
c.25247-14G>A (n.25247-14G>A)
c.25103-14G>A (n.25103-14G>A)
c.649-14G>A
c.982-14G>A
c.891-14G>A
c.1019-14G>A (n.1019-14G>A)
c.24032-14G>A (n.24032-14G>A)
n.1995-14G>A
c.4082-14G>A (n.4082-14G>A)
n.8939-14G>A
c.3185-14G>A (n.3185-14G>A)
n.8831-14G>A
n.1861-14G>A
n.4269-14G>A
n.2084-14G>A
c.1712-14G>A (n.1712-14G>A)
c.25352-14G>A (n.25352-14G>A)
c.25340-14G>A (n.25340-14G>A)
c.25331-14G>A (n.25331-14G>A)
c.25301-14G>A (n.25301-14G>A)
c.25337-14G>A (n.25337-14G>A)
c.25283-14G>A (n.25283-14G>A)
c.25280-14G>A (n.25280-14G>A)
c.25268-14G>A (n.25268-14G>A)
c.25211-14G>A (n.25211-14G>A)
c.25199-14G>A (n.25199-14G>A)
c.25196-14G>A (n.25196-14G>A)
c.25193-14G>A (n.25193-14G>A)
c.25349-14G>A (n.25349-14G>A)
c.25187-14G>A (n.25187-14G>A)
c.23627-14G>A (n.23627-14G>A)
c.23120-14G>A (n.23120-14G>A)
c.18587-14G>A (n.18587-14G>A)
c.1853-14G>A (n.1853-14G>A)
c.25325-14G>A (n.25325-14G>A)
c.25274-14G>A (n.25274-14G>A)
c.25127-14G>A (n.25127-14G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.152140177_152140178dupCA2573140658SYNE1c.1781-16_1781-15dup (n.1781-16_1781-15dup)
c.25247-16_25247-15dup (n.25247-16_25247-15dup)
c.25103-16_25103-15dup (n.25103-16_25103-15dup)
c.649-16_649-15dup
c.982-16_982-15dup
c.891-16_891-15dup
c.1019-16_1019-15dup (n.1019-16_1019-15dup)
c.24032-16_24032-15dup (n.24032-16_24032-15dup)
n.1995-16_1995-15dup
c.4082-16_4082-15dup (n.4082-16_4082-15dup)
n.8939-16_8939-15dup
c.3185-16_3185-15dup (n.3185-16_3185-15dup)
n.8831-16_8831-15dup
n.1861-16_1861-15dup
n.4269-16_4269-15dup
n.2084-16_2084-15dup
c.1712-16_1712-15dup (n.1712-16_1712-15dup)
c.25352-16_25352-15dup (n.25352-16_25352-15dup)
c.25340-16_25340-15dup (n.25340-16_25340-15dup)
c.25331-16_25331-15dup (n.25331-16_25331-15dup)
c.25301-16_25301-15dup (n.25301-16_25301-15dup)
c.25337-16_25337-15dup (n.25337-16_25337-15dup)
c.25283-16_25283-15dup (n.25283-16_25283-15dup)
c.25280-16_25280-15dup (n.25280-16_25280-15dup)
c.25268-16_25268-15dup (n.25268-16_25268-15dup)
c.25211-16_25211-15dup (n.25211-16_25211-15dup)
c.25199-16_25199-15dup (n.25199-16_25199-15dup)
c.25196-16_25196-15dup (n.25196-16_25196-15dup)
c.25193-16_25193-15dup (n.25193-16_25193-15dup)
c.25349-16_25349-15dup (n.25349-16_25349-15dup)
c.25187-16_25187-15dup (n.25187-16_25187-15dup)
c.23627-16_23627-15dup (n.23627-16_23627-15dup)
c.23120-16_23120-15dup (n.23120-16_23120-15dup)
c.18587-16_18587-15dup (n.18587-16_18587-15dup)
c.1853-16_1853-15dup (n.1853-16_1853-15dup)
c.25325-16_25325-15dup (n.25325-16_25325-15dup)
c.25274-16_25274-15dup (n.25274-16_25274-15dup)
c.25127-16_25127-15dup (n.25127-16_25127-15dup)
 ClinVar dbSNP
6g.152140177T>CCA4052875SYNE1c.1781-16A>G (n.1781-16A>G)
c.25247-16A>G (n.25247-16A>G)
c.25103-16A>G (n.25103-16A>G)
c.649-16A>G
c.982-16A>G
c.891-16A>G
c.1019-16A>G (n.1019-16A>G)
c.24032-16A>G (n.24032-16A>G)
n.1995-16A>G
c.4082-16A>G (n.4082-16A>G)
n.8939-16A>G
c.3185-16A>G (n.3185-16A>G)
n.8831-16A>G
n.1861-16A>G
n.4269-16A>G
n.2084-16A>G
c.1712-16A>G (n.1712-16A>G)
c.25352-16A>G (n.25352-16A>G)
c.25340-16A>G (n.25340-16A>G)
c.25331-16A>G (n.25331-16A>G)
c.25301-16A>G (n.25301-16A>G)
c.25337-16A>G (n.25337-16A>G)
c.25283-16A>G (n.25283-16A>G)
c.25280-16A>G (n.25280-16A>G)
c.25268-16A>G (n.25268-16A>G)
c.25211-16A>G (n.25211-16A>G)
c.25199-16A>G (n.25199-16A>G)
c.25196-16A>G (n.25196-16A>G)
c.25193-16A>G (n.25193-16A>G)
c.25349-16A>G (n.25349-16A>G)
c.25187-16A>G (n.25187-16A>G)
c.23627-16A>G (n.23627-16A>G)
c.23120-16A>G (n.23120-16A>G)
c.18587-16A>G (n.18587-16A>G)
c.1853-16A>G (n.1853-16A>G)
c.25325-16A>G (n.25325-16A>G)
c.25274-16A>G (n.25274-16A>G)
c.25127-16A>G (n.25127-16A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140177T=CA1673206476SYNE1c.1781-16A= (n.1781-16A=)
c.25247-16A= (n.25247-16A=)
c.25103-16A= (n.25103-16A=)
c.649-16A=
c.982-16A=
c.891-16A=
c.1019-16A= (n.1019-16A=)
c.24032-16A= (n.24032-16A=)
n.1995-16A=
c.4082-16A= (n.4082-16A=)
n.8939-16A=
c.3185-16A= (n.3185-16A=)
n.8831-16A=
n.1861-16A=
n.4269-16A=
n.2084-16A=
c.1712-16A= (n.1712-16A=)
c.25352-16A= (n.25352-16A=)
c.25340-16A= (n.25340-16A=)
c.25331-16A= (n.25331-16A=)
c.25301-16A= (n.25301-16A=)
c.25337-16A= (n.25337-16A=)
c.25283-16A= (n.25283-16A=)
c.25280-16A= (n.25280-16A=)
c.25268-16A= (n.25268-16A=)
c.25211-16A= (n.25211-16A=)
c.25199-16A= (n.25199-16A=)
c.25196-16A= (n.25196-16A=)
c.25193-16A= (n.25193-16A=)
c.25349-16A= (n.25349-16A=)
c.25187-16A= (n.25187-16A=)
c.23627-16A= (n.23627-16A=)
c.23120-16A= (n.23120-16A=)
c.18587-16A= (n.18587-16A=)
c.1853-16A= (n.1853-16A=)
c.25325-16A= (n.25325-16A=)
c.25274-16A= (n.25274-16A=)
c.25127-16A= (n.25127-16A=)
6g.152140178A=CA1673206479SYNE1c.1781-17T= (n.1781-17T=)
c.25247-17T= (n.25247-17T=)
c.25103-17T= (n.25103-17T=)
c.649-17T=
c.982-17T=
c.891-17T=
c.1019-17T= (n.1019-17T=)
c.24032-17T= (n.24032-17T=)
n.1995-17T=
c.4082-17T= (n.4082-17T=)
n.8939-17T=
c.3185-17T= (n.3185-17T=)
n.8831-17T=
n.1861-17T=
n.4269-17T=
n.2084-17T=
c.1712-17T= (n.1712-17T=)
c.25352-17T= (n.25352-17T=)
c.25340-17T= (n.25340-17T=)
c.25331-17T= (n.25331-17T=)
c.25301-17T= (n.25301-17T=)
c.25337-17T= (n.25337-17T=)
c.25283-17T= (n.25283-17T=)
c.25280-17T= (n.25280-17T=)
c.25268-17T= (n.25268-17T=)
c.25211-17T= (n.25211-17T=)
c.25199-17T= (n.25199-17T=)
c.25196-17T= (n.25196-17T=)
c.25193-17T= (n.25193-17T=)
c.25349-17T= (n.25349-17T=)
c.25187-17T= (n.25187-17T=)
c.23627-17T= (n.23627-17T=)
c.23120-17T= (n.23120-17T=)
c.18587-17T= (n.18587-17T=)
c.1853-17T= (n.1853-17T=)
c.25325-17T= (n.25325-17T=)
c.25274-17T= (n.25274-17T=)
c.25127-17T= (n.25127-17T=)
6g.152140178A>GCA571437360SYNE1c.1781-17T>C (n.1781-17T>C)
c.25247-17T>C (n.25247-17T>C)
c.25103-17T>C (n.25103-17T>C)
c.649-17T>C
c.982-17T>C
c.891-17T>C
c.1019-17T>C (n.1019-17T>C)
c.24032-17T>C (n.24032-17T>C)
n.1995-17T>C
c.4082-17T>C (n.4082-17T>C)
n.8939-17T>C
c.3185-17T>C (n.3185-17T>C)
n.8831-17T>C
n.1861-17T>C
n.4269-17T>C
n.2084-17T>C
c.1712-17T>C (n.1712-17T>C)
c.25352-17T>C (n.25352-17T>C)
c.25340-17T>C (n.25340-17T>C)
c.25331-17T>C (n.25331-17T>C)
c.25301-17T>C (n.25301-17T>C)
c.25337-17T>C (n.25337-17T>C)
c.25283-17T>C (n.25283-17T>C)
c.25280-17T>C (n.25280-17T>C)
c.25268-17T>C (n.25268-17T>C)
c.25211-17T>C (n.25211-17T>C)
c.25199-17T>C (n.25199-17T>C)
c.25196-17T>C (n.25196-17T>C)
c.25193-17T>C (n.25193-17T>C)
c.25349-17T>C (n.25349-17T>C)
c.25187-17T>C (n.25187-17T>C)
c.23627-17T>C (n.23627-17T>C)
c.23120-17T>C (n.23120-17T>C)
c.18587-17T>C (n.18587-17T>C)
c.1853-17T>C (n.1853-17T>C)
c.25325-17T>C (n.25325-17T>C)
c.25274-17T>C (n.25274-17T>C)
c.25127-17T>C (n.25127-17T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140181A=CA1673206482SYNE1c.1781-20T= (n.1781-20T=)
c.25247-20T= (n.25247-20T=)
c.25103-20T= (n.25103-20T=)
c.649-20T=
c.982-20T=
c.891-20T=
c.1019-20T= (n.1019-20T=)
c.24032-20T= (n.24032-20T=)
n.1995-20T=
c.4082-20T= (n.4082-20T=)
n.8939-20T=
c.3185-20T= (n.3185-20T=)
n.8831-20T=
n.1861-20T=
n.4269-20T=
n.2084-20T=
c.1712-20T= (n.1712-20T=)
c.25352-20T= (n.25352-20T=)
c.25340-20T= (n.25340-20T=)
c.25331-20T= (n.25331-20T=)
c.25301-20T= (n.25301-20T=)
c.25337-20T= (n.25337-20T=)
c.25283-20T= (n.25283-20T=)
c.25280-20T= (n.25280-20T=)
c.25268-20T= (n.25268-20T=)
c.25211-20T= (n.25211-20T=)
c.25199-20T= (n.25199-20T=)
c.25196-20T= (n.25196-20T=)
c.25193-20T= (n.25193-20T=)
c.25349-20T= (n.25349-20T=)
c.25187-20T= (n.25187-20T=)
c.23627-20T= (n.23627-20T=)
c.23120-20T= (n.23120-20T=)
c.18587-20T= (n.18587-20T=)
c.1853-20T= (n.1853-20T=)
c.25325-20T= (n.25325-20T=)
c.25274-20T= (n.25274-20T=)
c.25127-20T= (n.25127-20T=)
6g.152140181A>GCA820866616SYNE1c.1781-20T>C (n.1781-20T>C)
c.25247-20T>C (n.25247-20T>C)
c.25103-20T>C (n.25103-20T>C)
c.649-20T>C
c.982-20T>C
c.891-20T>C
c.1019-20T>C (n.1019-20T>C)
c.24032-20T>C (n.24032-20T>C)
n.1995-20T>C
c.4082-20T>C (n.4082-20T>C)
n.8939-20T>C
c.3185-20T>C (n.3185-20T>C)
n.8831-20T>C
n.1861-20T>C
n.4269-20T>C
n.2084-20T>C
c.1712-20T>C (n.1712-20T>C)
c.25352-20T>C (n.25352-20T>C)
c.25340-20T>C (n.25340-20T>C)
c.25331-20T>C (n.25331-20T>C)
c.25301-20T>C (n.25301-20T>C)
c.25337-20T>C (n.25337-20T>C)
c.25283-20T>C (n.25283-20T>C)
c.25280-20T>C (n.25280-20T>C)
c.25268-20T>C (n.25268-20T>C)
c.25211-20T>C (n.25211-20T>C)
c.25199-20T>C (n.25199-20T>C)
c.25196-20T>C (n.25196-20T>C)
c.25193-20T>C (n.25193-20T>C)
c.25349-20T>C (n.25349-20T>C)
c.25187-20T>C (n.25187-20T>C)
c.23627-20T>C (n.23627-20T>C)
c.23120-20T>C (n.23120-20T>C)
c.18587-20T>C (n.18587-20T>C)
c.1853-20T>C (n.1853-20T>C)
c.25325-20T>C (n.25325-20T>C)
c.25274-20T>C (n.25274-20T>C)
c.25127-20T>C (n.25127-20T>C)
 dbSNP
6g.152140182C=CA1673206485SYNE1c.1781-21G= (n.1781-21G=)
c.25247-21G= (n.25247-21G=)
c.25103-21G= (n.25103-21G=)
c.649-21G=
c.982-21G=
c.891-21G=
c.1019-21G= (n.1019-21G=)
c.24032-21G= (n.24032-21G=)
n.1995-21G=
c.4082-21G= (n.4082-21G=)
n.8939-21G=
c.3185-21G= (n.3185-21G=)
n.8831-21G=
n.1861-21G=
n.4269-21G=
n.2084-21G=
c.1712-21G= (n.1712-21G=)
c.25352-21G= (n.25352-21G=)
c.25340-21G= (n.25340-21G=)
c.25331-21G= (n.25331-21G=)
c.25301-21G= (n.25301-21G=)
c.25337-21G= (n.25337-21G=)
c.25283-21G= (n.25283-21G=)
c.25280-21G= (n.25280-21G=)
c.25268-21G= (n.25268-21G=)
c.25211-21G= (n.25211-21G=)
c.25199-21G= (n.25199-21G=)
c.25196-21G= (n.25196-21G=)
c.25193-21G= (n.25193-21G=)
c.25349-21G= (n.25349-21G=)
c.25187-21G= (n.25187-21G=)
c.23627-21G= (n.23627-21G=)
c.23120-21G= (n.23120-21G=)
c.18587-21G= (n.18587-21G=)
c.1853-21G= (n.1853-21G=)
c.25325-21G= (n.25325-21G=)
c.25274-21G= (n.25274-21G=)
c.25127-21G= (n.25127-21G=)
6g.152140182C>TCA4052876SYNE1c.1781-21G>A (n.1781-21G>A)
c.25247-21G>A (n.25247-21G>A)
c.25103-21G>A (n.25103-21G>A)
c.649-21G>A
c.982-21G>A
c.891-21G>A
c.1019-21G>A (n.1019-21G>A)
c.24032-21G>A (n.24032-21G>A)
n.1995-21G>A
c.4082-21G>A (n.4082-21G>A)
n.8939-21G>A
c.3185-21G>A (n.3185-21G>A)
n.8831-21G>A
n.1861-21G>A
n.4269-21G>A
n.2084-21G>A
c.1712-21G>A (n.1712-21G>A)
c.25352-21G>A (n.25352-21G>A)
c.25340-21G>A (n.25340-21G>A)
c.25331-21G>A (n.25331-21G>A)
c.25301-21G>A (n.25301-21G>A)
c.25337-21G>A (n.25337-21G>A)
c.25283-21G>A (n.25283-21G>A)
c.25280-21G>A (n.25280-21G>A)
c.25268-21G>A (n.25268-21G>A)
c.25211-21G>A (n.25211-21G>A)
c.25199-21G>A (n.25199-21G>A)
c.25196-21G>A (n.25196-21G>A)
c.25193-21G>A (n.25193-21G>A)
c.25349-21G>A (n.25349-21G>A)
c.25187-21G>A (n.25187-21G>A)
c.23627-21G>A (n.23627-21G>A)
c.23120-21G>A (n.23120-21G>A)
c.18587-21G>A (n.18587-21G>A)
c.1853-21G>A (n.1853-21G>A)
c.25325-21G>A (n.25325-21G>A)
c.25274-21G>A (n.25274-21G>A)
c.25127-21G>A (n.25127-21G>A)
 dbSNP ExAC
6g.152140183A>TCA2578773167SYNE1c.1781-22T>A (n.1781-22T>A)
c.25247-22T>A (n.25247-22T>A)
c.25103-22T>A (n.25103-22T>A)
c.649-22T>A
c.982-22T>A
c.891-22T>A
c.1019-22T>A (n.1019-22T>A)
c.24032-22T>A (n.24032-22T>A)
n.1995-22T>A
c.4082-22T>A (n.4082-22T>A)
n.8939-22T>A
c.3185-22T>A (n.3185-22T>A)
n.8831-22T>A
n.1861-22T>A
n.4269-22T>A
n.2084-22T>A
c.1712-22T>A (n.1712-22T>A)
c.25352-22T>A (n.25352-22T>A)
c.25340-22T>A (n.25340-22T>A)
c.25331-22T>A (n.25331-22T>A)
c.25301-22T>A (n.25301-22T>A)
c.25337-22T>A (n.25337-22T>A)
c.25283-22T>A (n.25283-22T>A)
c.25280-22T>A (n.25280-22T>A)
c.25268-22T>A (n.25268-22T>A)
c.25211-22T>A (n.25211-22T>A)
c.25199-22T>A (n.25199-22T>A)
c.25196-22T>A (n.25196-22T>A)
c.25193-22T>A (n.25193-22T>A)
c.25349-22T>A (n.25349-22T>A)
c.25187-22T>A (n.25187-22T>A)
c.23627-22T>A (n.23627-22T>A)
c.23120-22T>A (n.23120-22T>A)
c.18587-22T>A (n.18587-22T>A)
c.1853-22T>A (n.1853-22T>A)
c.25325-22T>A (n.25325-22T>A)
c.25274-22T>A (n.25274-22T>A)
c.25127-22T>A (n.25127-22T>A)
 gnomAD v4
6g.152140184G>ACA2680812255SYNE1c.1781-23C>T (n.1781-23C>T)
c.25247-23C>T (n.25247-23C>T)
c.25103-23C>T (n.25103-23C>T)
c.649-23C>T
c.982-23C>T
c.891-23C>T
c.1019-23C>T (n.1019-23C>T)
c.24032-23C>T (n.24032-23C>T)
n.1995-23C>T
c.4082-23C>T (n.4082-23C>T)
n.8939-23C>T
c.3185-23C>T (n.3185-23C>T)
n.8831-23C>T
n.1861-23C>T
n.4269-23C>T
n.2084-23C>T
c.1712-23C>T (n.1712-23C>T)
c.25352-23C>T (n.25352-23C>T)
c.25340-23C>T (n.25340-23C>T)
c.25331-23C>T (n.25331-23C>T)
c.25301-23C>T (n.25301-23C>T)
c.25337-23C>T (n.25337-23C>T)
c.25283-23C>T (n.25283-23C>T)
c.25280-23C>T (n.25280-23C>T)
c.25268-23C>T (n.25268-23C>T)
c.25211-23C>T (n.25211-23C>T)
c.25199-23C>T (n.25199-23C>T)
c.25196-23C>T (n.25196-23C>T)
c.25193-23C>T (n.25193-23C>T)
c.25349-23C>T (n.25349-23C>T)
c.25187-23C>T (n.25187-23C>T)
c.23627-23C>T (n.23627-23C>T)
c.23120-23C>T (n.23120-23C>T)
c.18587-23C>T (n.18587-23C>T)
c.1853-23C>T (n.1853-23C>T)
c.25325-23C>T (n.25325-23C>T)
c.25274-23C>T (n.25274-23C>T)
c.25127-23C>T (n.25127-23C>T)
 gnomAD v4
6g.152140185T>CCA571437361SYNE1c.1781-24A>G (n.1781-24A>G)
c.25247-24A>G (n.25247-24A>G)
c.25103-24A>G (n.25103-24A>G)
c.649-24A>G
c.982-24A>G
c.891-24A>G
c.1019-24A>G (n.1019-24A>G)
c.24032-24A>G (n.24032-24A>G)
n.1995-24A>G
c.4082-24A>G (n.4082-24A>G)
n.8939-24A>G
c.3185-24A>G (n.3185-24A>G)
n.8831-24A>G
n.1861-24A>G
n.4269-24A>G
n.2084-24A>G
c.1712-24A>G (n.1712-24A>G)
c.25352-24A>G (n.25352-24A>G)
c.25340-24A>G (n.25340-24A>G)
c.25331-24A>G (n.25331-24A>G)
c.25301-24A>G (n.25301-24A>G)
c.25337-24A>G (n.25337-24A>G)
c.25283-24A>G (n.25283-24A>G)
c.25280-24A>G (n.25280-24A>G)
c.25268-24A>G (n.25268-24A>G)
c.25211-24A>G (n.25211-24A>G)
c.25199-24A>G (n.25199-24A>G)
c.25196-24A>G (n.25196-24A>G)
c.25193-24A>G (n.25193-24A>G)
c.25349-24A>G (n.25349-24A>G)
c.25187-24A>G (n.25187-24A>G)
c.23627-24A>G (n.23627-24A>G)
c.23120-24A>G (n.23120-24A>G)
c.18587-24A>G (n.18587-24A>G)
c.1853-24A>G (n.1853-24A>G)
c.25325-24A>G (n.25325-24A>G)
c.25274-24A>G (n.25274-24A>G)
c.25127-24A>G (n.25127-24A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140185T=CA1673206488SYNE1c.1781-24A= (n.1781-24A=)
c.25247-24A= (n.25247-24A=)
c.25103-24A= (n.25103-24A=)
c.649-24A=
c.982-24A=
c.891-24A=
c.1019-24A= (n.1019-24A=)
c.24032-24A= (n.24032-24A=)
n.1995-24A=
c.4082-24A= (n.4082-24A=)
n.8939-24A=
c.3185-24A= (n.3185-24A=)
n.8831-24A=
n.1861-24A=
n.4269-24A=
n.2084-24A=
c.1712-24A= (n.1712-24A=)
c.25352-24A= (n.25352-24A=)
c.25340-24A= (n.25340-24A=)
c.25331-24A= (n.25331-24A=)
c.25301-24A= (n.25301-24A=)
c.25337-24A= (n.25337-24A=)
c.25283-24A= (n.25283-24A=)
c.25280-24A= (n.25280-24A=)
c.25268-24A= (n.25268-24A=)
c.25211-24A= (n.25211-24A=)
c.25199-24A= (n.25199-24A=)
c.25196-24A= (n.25196-24A=)
c.25193-24A= (n.25193-24A=)
c.25349-24A= (n.25349-24A=)
c.25187-24A= (n.25187-24A=)
c.23627-24A= (n.23627-24A=)
c.23120-24A= (n.23120-24A=)
c.18587-24A= (n.18587-24A=)
c.1853-24A= (n.1853-24A=)
c.25325-24A= (n.25325-24A=)
c.25274-24A= (n.25274-24A=)
c.25127-24A= (n.25127-24A=)
6g.152140186G>ACA4052877SYNE1c.1781-25C>T (n.1781-25C>T)
c.25247-25C>T (n.25247-25C>T)
c.25103-25C>T (n.25103-25C>T)
c.649-25C>T
c.982-25C>T
c.891-25C>T
c.1019-25C>T (n.1019-25C>T)
c.24032-25C>T (n.24032-25C>T)
n.1995-25C>T
c.4082-25C>T (n.4082-25C>T)
n.8939-25C>T
c.3185-25C>T (n.3185-25C>T)
n.8831-25C>T
n.1861-25C>T
n.4269-25C>T
n.2084-25C>T
c.1712-25C>T (n.1712-25C>T)
c.25352-25C>T (n.25352-25C>T)
c.25340-25C>T (n.25340-25C>T)
c.25331-25C>T (n.25331-25C>T)
c.25301-25C>T (n.25301-25C>T)
c.25337-25C>T (n.25337-25C>T)
c.25283-25C>T (n.25283-25C>T)
c.25280-25C>T (n.25280-25C>T)
c.25268-25C>T (n.25268-25C>T)
c.25211-25C>T (n.25211-25C>T)
c.25199-25C>T (n.25199-25C>T)
c.25196-25C>T (n.25196-25C>T)
c.25193-25C>T (n.25193-25C>T)
c.25349-25C>T (n.25349-25C>T)
c.25187-25C>T (n.25187-25C>T)
c.23627-25C>T (n.23627-25C>T)
c.23120-25C>T (n.23120-25C>T)
c.18587-25C>T (n.18587-25C>T)
c.1853-25C>T (n.1853-25C>T)
c.25325-25C>T (n.25325-25C>T)
c.25274-25C>T (n.25274-25C>T)
c.25127-25C>T (n.25127-25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140186G>CCA4052878SYNE1c.1781-25C>G (n.1781-25C>G)
c.25247-25C>G (n.25247-25C>G)
c.25103-25C>G (n.25103-25C>G)
c.649-25C>G
c.982-25C>G
c.891-25C>G
c.1019-25C>G (n.1019-25C>G)
c.24032-25C>G (n.24032-25C>G)
n.1995-25C>G
c.4082-25C>G (n.4082-25C>G)
n.8939-25C>G
c.3185-25C>G (n.3185-25C>G)
n.8831-25C>G
n.1861-25C>G
n.4269-25C>G
n.2084-25C>G
c.1712-25C>G (n.1712-25C>G)
c.25352-25C>G (n.25352-25C>G)
c.25340-25C>G (n.25340-25C>G)
c.25331-25C>G (n.25331-25C>G)
c.25301-25C>G (n.25301-25C>G)
c.25337-25C>G (n.25337-25C>G)
c.25283-25C>G (n.25283-25C>G)
c.25280-25C>G (n.25280-25C>G)
c.25268-25C>G (n.25268-25C>G)
c.25211-25C>G (n.25211-25C>G)
c.25199-25C>G (n.25199-25C>G)
c.25196-25C>G (n.25196-25C>G)
c.25193-25C>G (n.25193-25C>G)
c.25349-25C>G (n.25349-25C>G)
c.25187-25C>G (n.25187-25C>G)
c.23627-25C>G (n.23627-25C>G)
c.23120-25C>G (n.23120-25C>G)
c.18587-25C>G (n.18587-25C>G)
c.1853-25C>G (n.1853-25C>G)
c.25325-25C>G (n.25325-25C>G)
c.25274-25C>G (n.25274-25C>G)
c.25127-25C>G (n.25127-25C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140186G=CA1673206492SYNE1c.1781-25C= (n.1781-25C=)
c.25247-25C= (n.25247-25C=)
c.25103-25C= (n.25103-25C=)
c.649-25C=
c.982-25C=
c.891-25C=
c.1019-25C= (n.1019-25C=)
c.24032-25C= (n.24032-25C=)
n.1995-25C=
c.4082-25C= (n.4082-25C=)
n.8939-25C=
c.3185-25C= (n.3185-25C=)
n.8831-25C=
n.1861-25C=
n.4269-25C=
n.2084-25C=
c.1712-25C= (n.1712-25C=)
c.25352-25C= (n.25352-25C=)
c.25340-25C= (n.25340-25C=)
c.25331-25C= (n.25331-25C=)
c.25301-25C= (n.25301-25C=)
c.25337-25C= (n.25337-25C=)
c.25283-25C= (n.25283-25C=)
c.25280-25C= (n.25280-25C=)
c.25268-25C= (n.25268-25C=)
c.25211-25C= (n.25211-25C=)
c.25199-25C= (n.25199-25C=)
c.25196-25C= (n.25196-25C=)
c.25193-25C= (n.25193-25C=)
c.25349-25C= (n.25349-25C=)
c.25187-25C= (n.25187-25C=)
c.23627-25C= (n.23627-25C=)
c.23120-25C= (n.23120-25C=)
c.18587-25C= (n.18587-25C=)
c.1853-25C= (n.1853-25C=)
c.25325-25C= (n.25325-25C=)
c.25274-25C= (n.25274-25C=)
c.25127-25C= (n.25127-25C=)
6g.152140186G>TCA2680812256SYNE1c.1781-25C>A (n.1781-25C>A)
c.25247-25C>A (n.25247-25C>A)
c.25103-25C>A (n.25103-25C>A)
c.649-25C>A
c.982-25C>A
c.891-25C>A
c.1019-25C>A (n.1019-25C>A)
c.24032-25C>A (n.24032-25C>A)
n.1995-25C>A
c.4082-25C>A (n.4082-25C>A)
n.8939-25C>A
c.3185-25C>A (n.3185-25C>A)
n.8831-25C>A
n.1861-25C>A
n.4269-25C>A
n.2084-25C>A
c.1712-25C>A (n.1712-25C>A)
c.25352-25C>A (n.25352-25C>A)
c.25340-25C>A (n.25340-25C>A)
c.25331-25C>A (n.25331-25C>A)
c.25301-25C>A (n.25301-25C>A)
c.25337-25C>A (n.25337-25C>A)
c.25283-25C>A (n.25283-25C>A)
c.25280-25C>A (n.25280-25C>A)
c.25268-25C>A (n.25268-25C>A)
c.25211-25C>A (n.25211-25C>A)
c.25199-25C>A (n.25199-25C>A)
c.25196-25C>A (n.25196-25C>A)
c.25193-25C>A (n.25193-25C>A)
c.25349-25C>A (n.25349-25C>A)
c.25187-25C>A (n.25187-25C>A)
c.23627-25C>A (n.23627-25C>A)
c.23120-25C>A (n.23120-25C>A)
c.18587-25C>A (n.18587-25C>A)
c.1853-25C>A (n.1853-25C>A)
c.25325-25C>A (n.25325-25C>A)
c.25274-25C>A (n.25274-25C>A)
c.25127-25C>A (n.25127-25C>A)
 gnomAD v4
6g.152140188G>ACA2680812257SYNE1c.1781-27C>T (n.1781-27C>T)
c.25247-27C>T (n.25247-27C>T)
c.25103-27C>T (n.25103-27C>T)
c.649-27C>T
c.982-27C>T
c.891-27C>T
c.1019-27C>T (n.1019-27C>T)
c.24032-27C>T (n.24032-27C>T)
n.1995-27C>T
c.4082-27C>T (n.4082-27C>T)
n.8939-27C>T
c.3185-27C>T (n.3185-27C>T)
n.8831-27C>T
n.1861-27C>T
n.4269-27C>T
n.2084-27C>T
c.1712-27C>T (n.1712-27C>T)
c.25352-27C>T (n.25352-27C>T)
c.25340-27C>T (n.25340-27C>T)
c.25331-27C>T (n.25331-27C>T)
c.25301-27C>T (n.25301-27C>T)
c.25337-27C>T (n.25337-27C>T)
c.25283-27C>T (n.25283-27C>T)
c.25280-27C>T (n.25280-27C>T)
c.25268-27C>T (n.25268-27C>T)
c.25211-27C>T (n.25211-27C>T)
c.25199-27C>T (n.25199-27C>T)
c.25196-27C>T (n.25196-27C>T)
c.25193-27C>T (n.25193-27C>T)
c.25349-27C>T (n.25349-27C>T)
c.25187-27C>T (n.25187-27C>T)
c.23627-27C>T (n.23627-27C>T)
c.23120-27C>T (n.23120-27C>T)
c.18587-27C>T (n.18587-27C>T)
c.1853-27C>T (n.1853-27C>T)
c.25325-27C>T (n.25325-27C>T)
c.25274-27C>T (n.25274-27C>T)
c.25127-27C>T (n.25127-27C>T)
 gnomAD v4
6g.152140189G>ACA820866634SYNE1c.1781-28C>T (n.1781-28C>T)
c.25247-28C>T (n.25247-28C>T)
c.25103-28C>T (n.25103-28C>T)
c.649-28C>T
c.982-28C>T
c.891-28C>T
c.1019-28C>T (n.1019-28C>T)
c.24032-28C>T (n.24032-28C>T)
n.1995-28C>T
c.4082-28C>T (n.4082-28C>T)
n.8939-28C>T
c.3185-28C>T (n.3185-28C>T)
n.8831-28C>T
n.1861-28C>T
n.4269-28C>T
n.2084-28C>T
c.1712-28C>T (n.1712-28C>T)
c.25352-28C>T (n.25352-28C>T)
c.25340-28C>T (n.25340-28C>T)
c.25331-28C>T (n.25331-28C>T)
c.25301-28C>T (n.25301-28C>T)
c.25337-28C>T (n.25337-28C>T)
c.25283-28C>T (n.25283-28C>T)
c.25280-28C>T (n.25280-28C>T)
c.25268-28C>T (n.25268-28C>T)
c.25211-28C>T (n.25211-28C>T)
c.25199-28C>T (n.25199-28C>T)
c.25196-28C>T (n.25196-28C>T)
c.25193-28C>T (n.25193-28C>T)
c.25349-28C>T (n.25349-28C>T)
c.25187-28C>T (n.25187-28C>T)
c.23627-28C>T (n.23627-28C>T)
c.23120-28C>T (n.23120-28C>T)
c.18587-28C>T (n.18587-28C>T)
c.1853-28C>T (n.1853-28C>T)
c.25325-28C>T (n.25325-28C>T)
c.25274-28C>T (n.25274-28C>T)
c.25127-28C>T (n.25127-28C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.152140189G=CA1673206496SYNE1c.1781-28C= (n.1781-28C=)
c.25247-28C= (n.25247-28C=)
c.25103-28C= (n.25103-28C=)
c.649-28C=
c.982-28C=
c.891-28C=
c.1019-28C= (n.1019-28C=)
c.24032-28C= (n.24032-28C=)
n.1995-28C=
c.4082-28C= (n.4082-28C=)
n.8939-28C=
c.3185-28C= (n.3185-28C=)
n.8831-28C=
n.1861-28C=
n.4269-28C=
n.2084-28C=
c.1712-28C= (n.1712-28C=)
c.25352-28C= (n.25352-28C=)
c.25340-28C= (n.25340-28C=)
c.25331-28C= (n.25331-28C=)
c.25301-28C= (n.25301-28C=)
c.25337-28C= (n.25337-28C=)
c.25283-28C= (n.25283-28C=)
c.25280-28C= (n.25280-28C=)
c.25268-28C= (n.25268-28C=)
c.25211-28C= (n.25211-28C=)
c.25199-28C= (n.25199-28C=)
c.25196-28C= (n.25196-28C=)
c.25193-28C= (n.25193-28C=)
c.25349-28C= (n.25349-28C=)
c.25187-28C= (n.25187-28C=)
c.23627-28C= (n.23627-28C=)
c.23120-28C= (n.23120-28C=)
c.18587-28C= (n.18587-28C=)
c.1853-28C= (n.1853-28C=)
c.25325-28C= (n.25325-28C=)
c.25274-28C= (n.25274-28C=)
c.25127-28C= (n.25127-28C=)
6g.152140189G>TCA4052879SYNE1c.1781-28C>A (n.1781-28C>A)
c.25247-28C>A (n.25247-28C>A)
c.25103-28C>A (n.25103-28C>A)
c.649-28C>A
c.982-28C>A
c.891-28C>A
c.1019-28C>A (n.1019-28C>A)
c.24032-28C>A (n.24032-28C>A)
n.1995-28C>A
c.4082-28C>A (n.4082-28C>A)
n.8939-28C>A
c.3185-28C>A (n.3185-28C>A)
n.8831-28C>A
n.1861-28C>A
n.4269-28C>A
n.2084-28C>A
c.1712-28C>A (n.1712-28C>A)
c.25352-28C>A (n.25352-28C>A)
c.25340-28C>A (n.25340-28C>A)
c.25331-28C>A (n.25331-28C>A)
c.25301-28C>A (n.25301-28C>A)
c.25337-28C>A (n.25337-28C>A)
c.25283-28C>A (n.25283-28C>A)
c.25280-28C>A (n.25280-28C>A)
c.25268-28C>A (n.25268-28C>A)
c.25211-28C>A (n.25211-28C>A)
c.25199-28C>A (n.25199-28C>A)
c.25196-28C>A (n.25196-28C>A)
c.25193-28C>A (n.25193-28C>A)
c.25349-28C>A (n.25349-28C>A)
c.25187-28C>A (n.25187-28C>A)
c.23627-28C>A (n.23627-28C>A)
c.23120-28C>A (n.23120-28C>A)
c.18587-28C>A (n.18587-28C>A)
c.1853-28C>A (n.1853-28C>A)
c.25325-28C>A (n.25325-28C>A)
c.25274-28C>A (n.25274-28C>A)
c.25127-28C>A (n.25127-28C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140190T>CCA2680812258SYNE1c.1781-29A>G (n.1781-29A>G)
c.25247-29A>G (n.25247-29A>G)
c.25103-29A>G (n.25103-29A>G)
c.649-29A>G
c.982-29A>G
c.891-29A>G
c.1019-29A>G (n.1019-29A>G)
c.24032-29A>G (n.24032-29A>G)
n.1995-29A>G
c.4082-29A>G (n.4082-29A>G)
n.8939-29A>G
c.3185-29A>G (n.3185-29A>G)
n.8831-29A>G
n.1861-29A>G
n.4269-29A>G
n.2084-29A>G
c.1712-29A>G (n.1712-29A>G)
c.25352-29A>G (n.25352-29A>G)
c.25340-29A>G (n.25340-29A>G)
c.25331-29A>G (n.25331-29A>G)
c.25301-29A>G (n.25301-29A>G)
c.25337-29A>G (n.25337-29A>G)
c.25283-29A>G (n.25283-29A>G)
c.25280-29A>G (n.25280-29A>G)
c.25268-29A>G (n.25268-29A>G)
c.25211-29A>G (n.25211-29A>G)
c.25199-29A>G (n.25199-29A>G)
c.25196-29A>G (n.25196-29A>G)
c.25193-29A>G (n.25193-29A>G)
c.25349-29A>G (n.25349-29A>G)
c.25187-29A>G (n.25187-29A>G)
c.23627-29A>G (n.23627-29A>G)
c.23120-29A>G (n.23120-29A>G)
c.18587-29A>G (n.18587-29A>G)
c.1853-29A>G (n.1853-29A>G)
c.25325-29A>G (n.25325-29A>G)
c.25274-29A>G (n.25274-29A>G)
c.25127-29A>G (n.25127-29A>G)
 gnomAD v4
6g.152140191T>CCA2680812259SYNE1c.1781-30A>G (n.1781-30A>G)
c.25247-30A>G (n.25247-30A>G)
c.25103-30A>G (n.25103-30A>G)
c.649-30A>G
c.982-30A>G
c.891-30A>G
c.1019-30A>G (n.1019-30A>G)
c.24032-30A>G (n.24032-30A>G)
n.1995-30A>G
c.4082-30A>G (n.4082-30A>G)
n.8939-30A>G
c.3185-30A>G (n.3185-30A>G)
n.8831-30A>G
n.1861-30A>G
n.4269-30A>G
n.2084-30A>G
c.1712-30A>G (n.1712-30A>G)
c.25352-30A>G (n.25352-30A>G)
c.25340-30A>G (n.25340-30A>G)
c.25331-30A>G (n.25331-30A>G)
c.25301-30A>G (n.25301-30A>G)
c.25337-30A>G (n.25337-30A>G)
c.25283-30A>G (n.25283-30A>G)
c.25280-30A>G (n.25280-30A>G)
c.25268-30A>G (n.25268-30A>G)
c.25211-30A>G (n.25211-30A>G)
c.25199-30A>G (n.25199-30A>G)
c.25196-30A>G (n.25196-30A>G)
c.25193-30A>G (n.25193-30A>G)
c.25349-30A>G (n.25349-30A>G)
c.25187-30A>G (n.25187-30A>G)
c.23627-30A>G (n.23627-30A>G)
c.23120-30A>G (n.23120-30A>G)
c.18587-30A>G (n.18587-30A>G)
c.1853-30A>G (n.1853-30A>G)
c.25325-30A>G (n.25325-30A>G)
c.25274-30A>G (n.25274-30A>G)
c.25127-30A>G (n.25127-30A>G)
 gnomAD v4
6g.152140191_152140192delinsTACA1673206499SYNE1c.1781-31_1781-30delinsTA (n.1781-31_1781-30delinsTA)
c.25247-31_25247-30delinsTA (n.25247-31_25247-30delinsTA)
c.25103-31_25103-30delinsTA (n.25103-31_25103-30delinsTA)
c.649-31_649-30delinsTA
c.982-31_982-30delinsTA
c.891-31_891-30delinsTA
c.1019-31_1019-30delinsTA (n.1019-31_1019-30delinsTA)
c.24032-31_24032-30delinsTA (n.24032-31_24032-30delinsTA)
n.1995-31_1995-30delinsTA
c.4082-31_4082-30delinsTA (n.4082-31_4082-30delinsTA)
n.8939-31_8939-30delinsTA
c.3185-31_3185-30delinsTA (n.3185-31_3185-30delinsTA)
n.8831-31_8831-30delinsTA
n.1861-31_1861-30delinsTA
n.4269-31_4269-30delinsTA
n.2084-31_2084-30delinsTA
c.1712-31_1712-30delinsTA (n.1712-31_1712-30delinsTA)
c.25352-31_25352-30delinsTA (n.25352-31_25352-30delinsTA)
c.25340-31_25340-30delinsTA (n.25340-31_25340-30delinsTA)
c.25331-31_25331-30delinsTA (n.25331-31_25331-30delinsTA)
c.25301-31_25301-30delinsTA (n.25301-31_25301-30delinsTA)
c.25337-31_25337-30delinsTA (n.25337-31_25337-30delinsTA)
c.25283-31_25283-30delinsTA (n.25283-31_25283-30delinsTA)
c.25280-31_25280-30delinsTA (n.25280-31_25280-30delinsTA)
c.25268-31_25268-30delinsTA (n.25268-31_25268-30delinsTA)
c.25211-31_25211-30delinsTA (n.25211-31_25211-30delinsTA)
c.25199-31_25199-30delinsTA (n.25199-31_25199-30delinsTA)
c.25196-31_25196-30delinsTA (n.25196-31_25196-30delinsTA)
c.25193-31_25193-30delinsTA (n.25193-31_25193-30delinsTA)
c.25349-31_25349-30delinsTA (n.25349-31_25349-30delinsTA)
c.25187-31_25187-30delinsTA (n.25187-31_25187-30delinsTA)
c.23627-31_23627-30delinsTA (n.23627-31_23627-30delinsTA)
c.23120-31_23120-30delinsTA (n.23120-31_23120-30delinsTA)
c.18587-31_18587-30delinsTA (n.18587-31_18587-30delinsTA)
c.1853-31_1853-30delinsTA (n.1853-31_1853-30delinsTA)
c.25325-31_25325-30delinsTA (n.25325-31_25325-30delinsTA)
c.25274-31_25274-30delinsTA (n.25274-31_25274-30delinsTA)
c.25127-31_25127-30delinsTA (n.25127-31_25127-30delinsTA)
6g.152140192delCA820866639SYNE1c.1781-31del (n.1781-31del)
c.25247-31del (n.25247-31del)
c.25103-31del (n.25103-31del)
c.649-31del
c.982-31del
c.891-31del
c.1019-31del (n.1019-31del)
c.24032-31del (n.24032-31del)
n.1995-31del
c.4082-31del (n.4082-31del)
n.8939-31del
c.3185-31del (n.3185-31del)
n.8831-31del
n.1861-31del
n.4269-31del
n.2084-31del
c.1712-31del (n.1712-31del)
c.25352-31del (n.25352-31del)
c.25340-31del (n.25340-31del)
c.25331-31del (n.25331-31del)
c.25301-31del (n.25301-31del)
c.25337-31del (n.25337-31del)
c.25283-31del (n.25283-31del)
c.25280-31del (n.25280-31del)
c.25268-31del (n.25268-31del)
c.25211-31del (n.25211-31del)
c.25199-31del (n.25199-31del)
c.25196-31del (n.25196-31del)
c.25193-31del (n.25193-31del)
c.25349-31del (n.25349-31del)
c.25187-31del (n.25187-31del)
c.23627-31del (n.23627-31del)
c.23120-31del (n.23120-31del)
c.18587-31del (n.18587-31del)
c.1853-31del (n.1853-31del)
c.25325-31del (n.25325-31del)
c.25274-31del (n.25274-31del)
c.25127-31del (n.25127-31del)
 dbSNP gnomAD v3 gnomAD v4
6g.152140192A=CA1673206503SYNE1c.1781-31T= (n.1781-31T=)
c.25247-31T= (n.25247-31T=)
c.25103-31T= (n.25103-31T=)
c.649-31T=
c.982-31T=
c.891-31T=
c.1019-31T= (n.1019-31T=)
c.24032-31T= (n.24032-31T=)
n.1995-31T=
c.4082-31T= (n.4082-31T=)
n.8939-31T=
c.3185-31T= (n.3185-31T=)
n.8831-31T=
n.1861-31T=
n.4269-31T=
n.2084-31T=
c.1712-31T= (n.1712-31T=)
c.25352-31T= (n.25352-31T=)
c.25340-31T= (n.25340-31T=)
c.25331-31T= (n.25331-31T=)
c.25301-31T= (n.25301-31T=)
c.25337-31T= (n.25337-31T=)
c.25283-31T= (n.25283-31T=)
c.25280-31T= (n.25280-31T=)
c.25268-31T= (n.25268-31T=)
c.25211-31T= (n.25211-31T=)
c.25199-31T= (n.25199-31T=)
c.25196-31T= (n.25196-31T=)
c.25193-31T= (n.25193-31T=)
c.25349-31T= (n.25349-31T=)
c.25187-31T= (n.25187-31T=)
c.23627-31T= (n.23627-31T=)
c.23120-31T= (n.23120-31T=)
c.18587-31T= (n.18587-31T=)
c.1853-31T= (n.1853-31T=)
c.25325-31T= (n.25325-31T=)
c.25274-31T= (n.25274-31T=)
c.25127-31T= (n.25127-31T=)
6g.152140192A>CCA571437362SYNE1c.1781-31T>G (n.1781-31T>G)
c.25247-31T>G (n.25247-31T>G)
c.25103-31T>G (n.25103-31T>G)
c.649-31T>G
c.982-31T>G
c.891-31T>G
c.1019-31T>G (n.1019-31T>G)
c.24032-31T>G (n.24032-31T>G)
n.1995-31T>G
c.4082-31T>G (n.4082-31T>G)
n.8939-31T>G
c.3185-31T>G (n.3185-31T>G)
n.8831-31T>G
n.1861-31T>G
n.4269-31T>G
n.2084-31T>G
c.1712-31T>G (n.1712-31T>G)
c.25352-31T>G (n.25352-31T>G)
c.25340-31T>G (n.25340-31T>G)
c.25331-31T>G (n.25331-31T>G)
c.25301-31T>G (n.25301-31T>G)
c.25337-31T>G (n.25337-31T>G)
c.25283-31T>G (n.25283-31T>G)
c.25280-31T>G (n.25280-31T>G)
c.25268-31T>G (n.25268-31T>G)
c.25211-31T>G (n.25211-31T>G)
c.25199-31T>G (n.25199-31T>G)
c.25196-31T>G (n.25196-31T>G)
c.25193-31T>G (n.25193-31T>G)
c.25349-31T>G (n.25349-31T>G)
c.25187-31T>G (n.25187-31T>G)
c.23627-31T>G (n.23627-31T>G)
c.23120-31T>G (n.23120-31T>G)
c.18587-31T>G (n.18587-31T>G)
c.1853-31T>G (n.1853-31T>G)
c.25325-31T>G (n.25325-31T>G)
c.25274-31T>G (n.25274-31T>G)
c.25127-31T>G (n.25127-31T>G)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.152140193T>GCA571437363SYNE1c.1781-32A>C (n.1781-32A>C)
c.25247-32A>C (n.25247-32A>C)
c.25103-32A>C (n.25103-32A>C)
c.649-32A>C
c.982-32A>C
c.891-32A>C
c.1019-32A>C (n.1019-32A>C)
c.24032-32A>C (n.24032-32A>C)
n.1995-32A>C
c.4082-32A>C (n.4082-32A>C)
n.8939-32A>C
c.3185-32A>C (n.3185-32A>C)
n.8831-32A>C
n.1861-32A>C
n.4269-32A>C
n.2084-32A>C
c.1712-32A>C (n.1712-32A>C)
c.25352-32A>C (n.25352-32A>C)
c.25340-32A>C (n.25340-32A>C)
c.25331-32A>C (n.25331-32A>C)
c.25301-32A>C (n.25301-32A>C)
c.25337-32A>C (n.25337-32A>C)
c.25283-32A>C (n.25283-32A>C)
c.25280-32A>C (n.25280-32A>C)
c.25268-32A>C (n.25268-32A>C)
c.25211-32A>C (n.25211-32A>C)
c.25199-32A>C (n.25199-32A>C)
c.25196-32A>C (n.25196-32A>C)
c.25193-32A>C (n.25193-32A>C)
c.25349-32A>C (n.25349-32A>C)
c.25187-32A>C (n.25187-32A>C)
c.23627-32A>C (n.23627-32A>C)
c.23120-32A>C (n.23120-32A>C)
c.18587-32A>C (n.18587-32A>C)
c.1853-32A>C (n.1853-32A>C)
c.25325-32A>C (n.25325-32A>C)
c.25274-32A>C (n.25274-32A>C)
c.25127-32A>C (n.25127-32A>C)
 dbSNP gnomAD v2
6g.152140193T=CA1673206508SYNE1c.1781-32A= (n.1781-32A=)
c.25247-32A= (n.25247-32A=)
c.25103-32A= (n.25103-32A=)
c.649-32A=
c.982-32A=
c.891-32A=
c.1019-32A= (n.1019-32A=)
c.24032-32A= (n.24032-32A=)
n.1995-32A=
c.4082-32A= (n.4082-32A=)
n.8939-32A=
c.3185-32A= (n.3185-32A=)
n.8831-32A=
n.1861-32A=
n.4269-32A=
n.2084-32A=
c.1712-32A= (n.1712-32A=)
c.25352-32A= (n.25352-32A=)
c.25340-32A= (n.25340-32A=)
c.25331-32A= (n.25331-32A=)
c.25301-32A= (n.25301-32A=)
c.25337-32A= (n.25337-32A=)
c.25283-32A= (n.25283-32A=)
c.25280-32A= (n.25280-32A=)
c.25268-32A= (n.25268-32A=)
c.25211-32A= (n.25211-32A=)
c.25199-32A= (n.25199-32A=)
c.25196-32A= (n.25196-32A=)
c.25193-32A= (n.25193-32A=)
c.25349-32A= (n.25349-32A=)
c.25187-32A= (n.25187-32A=)
c.23627-32A= (n.23627-32A=)
c.23120-32A= (n.23120-32A=)
c.18587-32A= (n.18587-32A=)
c.1853-32A= (n.1853-32A=)
c.25325-32A= (n.25325-32A=)
c.25274-32A= (n.25274-32A=)
c.25127-32A= (n.25127-32A=)
6g.152140194T>CCA1673206512SYNE1c.1781-33A>G (n.1781-33A>G)
c.25247-33A>G (n.25247-33A>G)
c.25103-33A>G (n.25103-33A>G)
c.649-33A>G
c.982-33A>G
c.891-33A>G
c.1019-33A>G (n.1019-33A>G)
c.24032-33A>G (n.24032-33A>G)
n.1995-33A>G
c.4082-33A>G (n.4082-33A>G)
n.8939-33A>G
c.3185-33A>G (n.3185-33A>G)
n.8831-33A>G
n.1861-33A>G
n.4269-33A>G
n.2084-33A>G
c.1712-33A>G (n.1712-33A>G)
c.25352-33A>G (n.25352-33A>G)
c.25340-33A>G (n.25340-33A>G)
c.25331-33A>G (n.25331-33A>G)
c.25301-33A>G (n.25301-33A>G)
c.25337-33A>G (n.25337-33A>G)
c.25283-33A>G (n.25283-33A>G)
c.25280-33A>G (n.25280-33A>G)
c.25268-33A>G (n.25268-33A>G)
c.25211-33A>G (n.25211-33A>G)
c.25199-33A>G (n.25199-33A>G)
c.25196-33A>G (n.25196-33A>G)
c.25193-33A>G (n.25193-33A>G)
c.25349-33A>G (n.25349-33A>G)
c.25187-33A>G (n.25187-33A>G)
c.23627-33A>G (n.23627-33A>G)
c.23120-33A>G (n.23120-33A>G)
c.18587-33A>G (n.18587-33A>G)
c.1853-33A>G (n.1853-33A>G)
c.25325-33A>G (n.25325-33A>G)
c.25274-33A>G (n.25274-33A>G)
c.25127-33A>G (n.25127-33A>G)
 dbSNP
6g.152140194T=CA1673206511SYNE1c.1781-33A= (n.1781-33A=)
c.25247-33A= (n.25247-33A=)
c.25103-33A= (n.25103-33A=)
c.649-33A=
c.982-33A=
c.891-33A=
c.1019-33A= (n.1019-33A=)
c.24032-33A= (n.24032-33A=)
n.1995-33A=
c.4082-33A= (n.4082-33A=)
n.8939-33A=
c.3185-33A= (n.3185-33A=)
n.8831-33A=
n.1861-33A=
n.4269-33A=
n.2084-33A=
c.1712-33A= (n.1712-33A=)
c.25352-33A= (n.25352-33A=)
c.25340-33A= (n.25340-33A=)
c.25331-33A= (n.25331-33A=)
c.25301-33A= (n.25301-33A=)
c.25337-33A= (n.25337-33A=)
c.25283-33A= (n.25283-33A=)
c.25280-33A= (n.25280-33A=)
c.25268-33A= (n.25268-33A=)
c.25211-33A= (n.25211-33A=)
c.25199-33A= (n.25199-33A=)
c.25196-33A= (n.25196-33A=)
c.25193-33A= (n.25193-33A=)
c.25349-33A= (n.25349-33A=)
c.25187-33A= (n.25187-33A=)
c.23627-33A= (n.23627-33A=)
c.23120-33A= (n.23120-33A=)
c.18587-33A= (n.18587-33A=)
c.1853-33A= (n.1853-33A=)
c.25325-33A= (n.25325-33A=)
c.25274-33A= (n.25274-33A=)
c.25127-33A= (n.25127-33A=)
6g.152140195T>CCA4052880SYNE1c.1781-34A>G (n.1781-34A>G)
c.25247-34A>G (n.25247-34A>G)
c.25103-34A>G (n.25103-34A>G)
c.649-34A>G
c.982-34A>G
c.891-34A>G
c.1019-34A>G (n.1019-34A>G)
c.24032-34A>G (n.24032-34A>G)
n.1995-34A>G
c.4082-34A>G (n.4082-34A>G)
n.8939-34A>G
c.3185-34A>G (n.3185-34A>G)
n.8831-34A>G
n.1861-34A>G
n.4269-34A>G
n.2084-34A>G
c.1712-34A>G (n.1712-34A>G)
c.25352-34A>G (n.25352-34A>G)
c.25340-34A>G (n.25340-34A>G)
c.25331-34A>G (n.25331-34A>G)
c.25301-34A>G (n.25301-34A>G)
c.25337-34A>G (n.25337-34A>G)
c.25283-34A>G (n.25283-34A>G)
c.25280-34A>G (n.25280-34A>G)
c.25268-34A>G (n.25268-34A>G)
c.25211-34A>G (n.25211-34A>G)
c.25199-34A>G (n.25199-34A>G)
c.25196-34A>G (n.25196-34A>G)
c.25193-34A>G (n.25193-34A>G)
c.25349-34A>G (n.25349-34A>G)
c.25187-34A>G (n.25187-34A>G)
c.23627-34A>G (n.23627-34A>G)
c.23120-34A>G (n.23120-34A>G)
c.18587-34A>G (n.18587-34A>G)
c.1853-34A>G (n.1853-34A>G)
c.25325-34A>G (n.25325-34A>G)
c.25274-34A>G (n.25274-34A>G)
c.25127-34A>G (n.25127-34A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140195T=CA1673206514SYNE1c.1781-34A= (n.1781-34A=)
c.25247-34A= (n.25247-34A=)
c.25103-34A= (n.25103-34A=)
c.649-34A=
c.982-34A=
c.891-34A=
c.1019-34A= (n.1019-34A=)
c.24032-34A= (n.24032-34A=)
n.1995-34A=
c.4082-34A= (n.4082-34A=)
n.8939-34A=
c.3185-34A= (n.3185-34A=)
n.8831-34A=
n.1861-34A=
n.4269-34A=
n.2084-34A=
c.1712-34A= (n.1712-34A=)
c.25352-34A= (n.25352-34A=)
c.25340-34A= (n.25340-34A=)
c.25331-34A= (n.25331-34A=)
c.25301-34A= (n.25301-34A=)
c.25337-34A= (n.25337-34A=)
c.25283-34A= (n.25283-34A=)
c.25280-34A= (n.25280-34A=)
c.25268-34A= (n.25268-34A=)
c.25211-34A= (n.25211-34A=)
c.25199-34A= (n.25199-34A=)
c.25196-34A= (n.25196-34A=)
c.25193-34A= (n.25193-34A=)
c.25349-34A= (n.25349-34A=)
c.25187-34A= (n.25187-34A=)
c.23627-34A= (n.23627-34A=)
c.23120-34A= (n.23120-34A=)
c.18587-34A= (n.18587-34A=)
c.1853-34A= (n.1853-34A=)
c.25325-34A= (n.25325-34A=)
c.25274-34A= (n.25274-34A=)
c.25127-34A= (n.25127-34A=)
6g.152140197C=CA1673206516SYNE1c.1781-36G= (n.1781-36G=)
c.25247-36G= (n.25247-36G=)
c.25103-36G= (n.25103-36G=)
c.649-36G=
c.982-36G=
c.891-36G=
c.1019-36G= (n.1019-36G=)
c.24032-36G= (n.24032-36G=)
n.1995-36G=
c.4082-36G= (n.4082-36G=)
n.8939-36G=
c.3185-36G= (n.3185-36G=)
n.8831-36G=
n.1861-36G=
n.4269-36G=
n.2084-36G=
c.1712-36G= (n.1712-36G=)
c.25352-36G= (n.25352-36G=)
c.25340-36G= (n.25340-36G=)
c.25331-36G= (n.25331-36G=)
c.25301-36G= (n.25301-36G=)
c.25337-36G= (n.25337-36G=)
c.25283-36G= (n.25283-36G=)
c.25280-36G= (n.25280-36G=)
c.25268-36G= (n.25268-36G=)
c.25211-36G= (n.25211-36G=)
c.25199-36G= (n.25199-36G=)
c.25196-36G= (n.25196-36G=)
c.25193-36G= (n.25193-36G=)
c.25349-36G= (n.25349-36G=)
c.25187-36G= (n.25187-36G=)
c.23627-36G= (n.23627-36G=)
c.23120-36G= (n.23120-36G=)
c.18587-36G= (n.18587-36G=)
c.1853-36G= (n.1853-36G=)
c.25325-36G= (n.25325-36G=)
c.25274-36G= (n.25274-36G=)
c.25127-36G= (n.25127-36G=)
6g.152140197C>TCA4052881SYNE1c.1781-36G>A (n.1781-36G>A)
c.25247-36G>A (n.25247-36G>A)
c.25103-36G>A (n.25103-36G>A)
c.649-36G>A
c.982-36G>A
c.891-36G>A
c.1019-36G>A (n.1019-36G>A)
c.24032-36G>A (n.24032-36G>A)
n.1995-36G>A
c.4082-36G>A (n.4082-36G>A)
n.8939-36G>A
c.3185-36G>A (n.3185-36G>A)
n.8831-36G>A
n.1861-36G>A
n.4269-36G>A
n.2084-36G>A
c.1712-36G>A (n.1712-36G>A)
c.25352-36G>A (n.25352-36G>A)
c.25340-36G>A (n.25340-36G>A)
c.25331-36G>A (n.25331-36G>A)
c.25301-36G>A (n.25301-36G>A)
c.25337-36G>A (n.25337-36G>A)
c.25283-36G>A (n.25283-36G>A)
c.25280-36G>A (n.25280-36G>A)
c.25268-36G>A (n.25268-36G>A)
c.25211-36G>A (n.25211-36G>A)
c.25199-36G>A (n.25199-36G>A)
c.25196-36G>A (n.25196-36G>A)
c.25193-36G>A (n.25193-36G>A)
c.25349-36G>A (n.25349-36G>A)
c.25187-36G>A (n.25187-36G>A)
c.23627-36G>A (n.23627-36G>A)
c.23120-36G>A (n.23120-36G>A)
c.18587-36G>A (n.18587-36G>A)
c.1853-36G>A (n.1853-36G>A)
c.25325-36G>A (n.25325-36G>A)
c.25274-36G>A (n.25274-36G>A)
c.25127-36G>A (n.25127-36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched