Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152140027C>ACA366080217SYNE1c.1915G>T (p.Glu639Ter)
c.25381G>T (p.Glu8461Ter)
c.25237G>T (p.Glu8413Ter)
c.783G>T
c.1116G>T
c.1025G>T
c.1153G>T (p.Glu385Ter)
c.24166G>T (p.Glu8056Ter)
n.2129G>T
c.4216G>T (p.Glu1406Ter)
n.9073G>T
c.3319G>T (p.Glu1107Ter)
n.8965G>T
n.1995G>T
n.4403G>T
n.2218G>T
c.1846G>T (p.Glu616Ter)
c.25486G>T (p.Glu8496Ter)
c.25474G>T (p.Glu8492Ter)
c.25465G>T (p.Glu8489Ter)
c.25435G>T (p.Glu8479Ter)
c.25471G>T (p.Glu8491Ter)
c.25417G>T (p.Glu8473Ter)
c.25414G>T (p.Glu8472Ter)
c.25402G>T (p.Glu8468Ter)
c.25345G>T (p.Glu8449Ter)
c.25333G>T (p.Glu8445Ter)
c.25330G>T (p.Glu8444Ter)
c.25327G>T (p.Glu8443Ter)
c.25483G>T (p.Glu8495Ter)
c.25321G>T (p.Glu8441Ter)
c.23761G>T (p.Glu7921Ter)
c.23254G>T (p.Glu7752Ter)
c.18721G>T (p.Glu6241Ter)
c.1987G>T (p.Glu663Ter)
c.25459G>T (p.Glu8487Ter)
c.25408G>T (p.Glu8470Ter)
c.25261G>T (p.Glu8421Ter)
6g.152140027C=CA1673206260SYNE1c.1915G= (p.Glu639=)
c.25381G= (p.Glu8461=)
c.25237G= (p.Glu8413=)
c.783G=
c.1116G=
c.1025G=
c.1153G= (p.Glu385=)
c.24166G= (p.Glu8056=)
n.2129G=
c.4216G= (p.Glu1406=)
n.9073G=
c.3319G= (p.Glu1107=)
n.8965G=
n.1995G=
n.4403G=
n.2218G=
c.1846G= (p.Glu616=)
c.25486G= (p.Glu8496=)
c.25474G= (p.Glu8492=)
c.25465G= (p.Glu8489=)
c.25435G= (p.Glu8479=)
c.25471G= (p.Glu8491=)
c.25417G= (p.Glu8473=)
c.25414G= (p.Glu8472=)
c.25402G= (p.Glu8468=)
c.25345G= (p.Glu8449=)
c.25333G= (p.Glu8445=)
c.25330G= (p.Glu8444=)
c.25327G= (p.Glu8443=)
c.25483G= (p.Glu8495=)
c.25321G= (p.Glu8441=)
c.23761G= (p.Glu7921=)
c.23254G= (p.Glu7752=)
c.18721G= (p.Glu6241=)
c.1987G= (p.Glu663=)
c.25459G= (p.Glu8487=)
c.25408G= (p.Glu8470=)
c.25261G= (p.Glu8421=)
6g.152140027C>GCA366080219SYNE1c.1915G>C (p.Glu639Gln)
c.25381G>C (p.Glu8461Gln)
c.25237G>C (p.Glu8413Gln)
c.783G>C
c.1116G>C
c.1025G>C
c.1153G>C (p.Glu385Gln)
c.24166G>C (p.Glu8056Gln)
n.2129G>C
c.4216G>C (p.Glu1406Gln)
n.9073G>C
c.3319G>C (p.Glu1107Gln)
n.8965G>C
n.1995G>C
n.4403G>C
n.2218G>C
c.1846G>C (p.Glu616Gln)
c.25486G>C (p.Glu8496Gln)
c.25474G>C (p.Glu8492Gln)
c.25465G>C (p.Glu8489Gln)
c.25435G>C (p.Glu8479Gln)
c.25471G>C (p.Glu8491Gln)
c.25417G>C (p.Glu8473Gln)
c.25414G>C (p.Glu8472Gln)
c.25402G>C (p.Glu8468Gln)
c.25345G>C (p.Glu8449Gln)
c.25333G>C (p.Glu8445Gln)
c.25330G>C (p.Glu8444Gln)
c.25327G>C (p.Glu8443Gln)
c.25483G>C (p.Glu8495Gln)
c.25321G>C (p.Glu8441Gln)
c.23761G>C (p.Glu7921Gln)
c.23254G>C (p.Glu7752Gln)
c.18721G>C (p.Glu6241Gln)
c.1987G>C (p.Glu663Gln)
c.25459G>C (p.Glu8487Gln)
c.25408G>C (p.Glu8470Gln)
c.25261G>C (p.Glu8421Gln)
6g.152140027C>TCA115488SYNE1c.1915G>A (p.Glu639Lys)
c.25381G>A (p.Glu8461Lys)
c.25237G>A (p.Glu8413Lys)
c.783G>A
c.1116G>A
c.1025G>A
c.1153G>A (p.Glu385Lys)
c.24166G>A (p.Glu8056Lys)
n.2129G>A
c.4216G>A (p.Glu1406Lys)
n.9073G>A
c.3319G>A (p.Glu1107Lys)
n.8965G>A
n.1995G>A
n.4403G>A
n.2218G>A
c.1846G>A (p.Glu616Lys)
c.25486G>A (p.Glu8496Lys)
c.25474G>A (p.Glu8492Lys)
c.25465G>A (p.Glu8489Lys)
c.25435G>A (p.Glu8479Lys)
c.25471G>A (p.Glu8491Lys)
c.25417G>A (p.Glu8473Lys)
c.25414G>A (p.Glu8472Lys)
c.25402G>A (p.Glu8468Lys)
c.25345G>A (p.Glu8449Lys)
c.25333G>A (p.Glu8445Lys)
c.25330G>A (p.Glu8444Lys)
c.25327G>A (p.Glu8443Lys)
c.25483G>A (p.Glu8495Lys)
c.25321G>A (p.Glu8441Lys)
c.23761G>A (p.Glu7921Lys)
c.23254G>A (p.Glu7752Lys)
c.18721G>A (p.Glu6241Lys)
c.1987G>A (p.Glu663Lys)
c.25459G>A (p.Glu8487Lys)
c.25408G>A (p.Glu8470Lys)
c.25261G>A (p.Glu8421Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140028C>ACA366080221SYNE1c.1914G>T (p.Glu638Asp)
c.25380G>T (p.Glu8460Asp)
c.25236G>T (p.Glu8412Asp)
c.782G>T
c.1115G>T
c.1024G>T
c.1152G>T (p.Glu384Asp)
c.24165G>T (p.Glu8055Asp)
n.2128G>T
c.4215G>T (p.Glu1405Asp)
n.9072G>T
c.3318G>T (p.Glu1106Asp)
n.8964G>T
n.1994G>T
n.4402G>T
n.2217G>T
c.1845G>T (p.Glu615Asp)
c.25485G>T (p.Glu8495Asp)
c.25473G>T (p.Glu8491Asp)
c.25464G>T (p.Glu8488Asp)
c.25434G>T (p.Glu8478Asp)
c.25470G>T (p.Glu8490Asp)
c.25416G>T (p.Glu8472Asp)
c.25413G>T (p.Glu8471Asp)
c.25401G>T (p.Glu8467Asp)
c.25344G>T (p.Glu8448Asp)
c.25332G>T (p.Glu8444Asp)
c.25329G>T (p.Glu8443Asp)
c.25326G>T (p.Glu8442Asp)
c.25482G>T (p.Glu8494Asp)
c.25320G>T (p.Glu8440Asp)
c.23760G>T (p.Glu7920Asp)
c.23253G>T (p.Glu7751Asp)
c.18720G>T (p.Glu6240Asp)
c.1986G>T (p.Glu662Asp)
c.25458G>T (p.Glu8486Asp)
c.25407G>T (p.Glu8469Asp)
c.25260G>T (p.Glu8420Asp)
6g.152140028C>GCA366080222SYNE1c.1914G>C (p.Glu638Asp)
c.25380G>C (p.Glu8460Asp)
c.25236G>C (p.Glu8412Asp)
c.782G>C
c.1115G>C
c.1024G>C
c.1152G>C (p.Glu384Asp)
c.24165G>C (p.Glu8055Asp)
n.2128G>C
c.4215G>C (p.Glu1405Asp)
n.9072G>C
c.3318G>C (p.Glu1106Asp)
n.8964G>C
n.1994G>C
n.4402G>C
n.2217G>C
c.1845G>C (p.Glu615Asp)
c.25485G>C (p.Glu8495Asp)
c.25473G>C (p.Glu8491Asp)
c.25464G>C (p.Glu8488Asp)
c.25434G>C (p.Glu8478Asp)
c.25470G>C (p.Glu8490Asp)
c.25416G>C (p.Glu8472Asp)
c.25413G>C (p.Glu8471Asp)
c.25401G>C (p.Glu8467Asp)
c.25344G>C (p.Glu8448Asp)
c.25332G>C (p.Glu8444Asp)
c.25329G>C (p.Glu8443Asp)
c.25326G>C (p.Glu8442Asp)
c.25482G>C (p.Glu8494Asp)
c.25320G>C (p.Glu8440Asp)
c.23760G>C (p.Glu7920Asp)
c.23253G>C (p.Glu7751Asp)
c.18720G>C (p.Glu6240Asp)
c.1986G>C (p.Glu662Asp)
c.25458G>C (p.Glu8486Asp)
c.25407G>C (p.Glu8469Asp)
c.25260G>C (p.Glu8420Asp)
6g.152140028C>TCA452969861SYNE1c.1914G>A (p.Glu638=)
c.25380G>A (p.Glu8460=)
c.25236G>A (p.Glu8412=)
c.782G>A
c.1115G>A
c.1024G>A
c.1152G>A (p.Glu384=)
c.24165G>A (p.Glu8055=)
n.2128G>A
c.4215G>A (p.Glu1405=)
n.9072G>A
c.3318G>A (p.Glu1106=)
n.8964G>A
n.1994G>A
n.4402G>A
n.2217G>A
c.1845G>A (p.Glu615=)
c.25485G>A (p.Glu8495=)
c.25473G>A (p.Glu8491=)
c.25464G>A (p.Glu8488=)
c.25434G>A (p.Glu8478=)
c.25470G>A (p.Glu8490=)
c.25416G>A (p.Glu8472=)
c.25413G>A (p.Glu8471=)
c.25401G>A (p.Glu8467=)
c.25344G>A (p.Glu8448=)
c.25332G>A (p.Glu8444=)
c.25329G>A (p.Glu8443=)
c.25326G>A (p.Glu8442=)
c.25482G>A (p.Glu8494=)
c.25320G>A (p.Glu8440=)
c.23760G>A (p.Glu7920=)
c.23253G>A (p.Glu7751=)
c.18720G>A (p.Glu6240=)
c.1986G>A (p.Glu662=)
c.25458G>A (p.Glu8486=)
c.25407G>A (p.Glu8469=)
c.25260G>A (p.Glu8420=)
6g.152140029T>ACA366080225SYNE1c.1913A>T (p.Glu638Val)
c.25379A>T (p.Glu8460Val)
c.25235A>T (p.Glu8412Val)
c.781A>T
c.1114A>T
c.1023A>T
c.1151A>T (p.Glu384Val)
c.24164A>T (p.Glu8055Val)
n.2127A>T
c.4214A>T (p.Glu1405Val)
n.9071A>T
c.3317A>T (p.Glu1106Val)
n.8963A>T
n.1993A>T
n.4401A>T
n.2216A>T
c.1844A>T (p.Glu615Val)
c.25484A>T (p.Glu8495Val)
c.25472A>T (p.Glu8491Val)
c.25463A>T (p.Glu8488Val)
c.25433A>T (p.Glu8478Val)
c.25469A>T (p.Glu8490Val)
c.25415A>T (p.Glu8472Val)
c.25412A>T (p.Glu8471Val)
c.25400A>T (p.Glu8467Val)
c.25343A>T (p.Glu8448Val)
c.25331A>T (p.Glu8444Val)
c.25328A>T (p.Glu8443Val)
c.25325A>T (p.Glu8442Val)
c.25481A>T (p.Glu8494Val)
c.25319A>T (p.Glu8440Val)
c.23759A>T (p.Glu7920Val)
c.23252A>T (p.Glu7751Val)
c.18719A>T (p.Glu6240Val)
c.1985A>T (p.Glu662Val)
c.25457A>T (p.Glu8486Val)
c.25406A>T (p.Glu8469Val)
c.25259A>T (p.Glu8420Val)
6g.152140029T>CCA366080227SYNE1c.1913A>G (p.Glu638Gly)
c.25379A>G (p.Glu8460Gly)
c.25235A>G (p.Glu8412Gly)
c.781A>G
c.1114A>G
c.1023A>G
c.1151A>G (p.Glu384Gly)
c.24164A>G (p.Glu8055Gly)
n.2127A>G
c.4214A>G (p.Glu1405Gly)
n.9071A>G
c.3317A>G (p.Glu1106Gly)
n.8963A>G
n.1993A>G
n.4401A>G
n.2216A>G
c.1844A>G (p.Glu615Gly)
c.25484A>G (p.Glu8495Gly)
c.25472A>G (p.Glu8491Gly)
c.25463A>G (p.Glu8488Gly)
c.25433A>G (p.Glu8478Gly)
c.25469A>G (p.Glu8490Gly)
c.25415A>G (p.Glu8472Gly)
c.25412A>G (p.Glu8471Gly)
c.25400A>G (p.Glu8467Gly)
c.25343A>G (p.Glu8448Gly)
c.25331A>G (p.Glu8444Gly)
c.25328A>G (p.Glu8443Gly)
c.25325A>G (p.Glu8442Gly)
c.25481A>G (p.Glu8494Gly)
c.25319A>G (p.Glu8440Gly)
c.23759A>G (p.Glu7920Gly)
c.23252A>G (p.Glu7751Gly)
c.18719A>G (p.Glu6240Gly)
c.1985A>G (p.Glu662Gly)
c.25457A>G (p.Glu8486Gly)
c.25406A>G (p.Glu8469Gly)
c.25259A>G (p.Glu8420Gly)
6g.152140029T>GCA366080229SYNE1c.1913A>C (p.Glu638Ala)
c.25379A>C (p.Glu8460Ala)
c.25235A>C (p.Glu8412Ala)
c.781A>C
c.1114A>C
c.1023A>C
c.1151A>C (p.Glu384Ala)
c.24164A>C (p.Glu8055Ala)
n.2127A>C
c.4214A>C (p.Glu1405Ala)
n.9071A>C
c.3317A>C (p.Glu1106Ala)
n.8963A>C
n.1993A>C
n.4401A>C
n.2216A>C
c.1844A>C (p.Glu615Ala)
c.25484A>C (p.Glu8495Ala)
c.25472A>C (p.Glu8491Ala)
c.25463A>C (p.Glu8488Ala)
c.25433A>C (p.Glu8478Ala)
c.25469A>C (p.Glu8490Ala)
c.25415A>C (p.Glu8472Ala)
c.25412A>C (p.Glu8471Ala)
c.25400A>C (p.Glu8467Ala)
c.25343A>C (p.Glu8448Ala)
c.25331A>C (p.Glu8444Ala)
c.25328A>C (p.Glu8443Ala)
c.25325A>C (p.Glu8442Ala)
c.25481A>C (p.Glu8494Ala)
c.25319A>C (p.Glu8440Ala)
c.23759A>C (p.Glu7920Ala)
c.23252A>C (p.Glu7751Ala)
c.18719A>C (p.Glu6240Ala)
c.1985A>C (p.Glu662Ala)
c.25457A>C (p.Glu8486Ala)
c.25406A>C (p.Glu8469Ala)
c.25259A>C (p.Glu8420Ala)
6g.152140030C>ACA366080235SYNE1c.1912G>T (p.Glu638Ter)
c.25378G>T (p.Glu8460Ter)
c.25234G>T (p.Glu8412Ter)
c.780G>T
c.1113G>T
c.1022G>T
c.1150G>T (p.Glu384Ter)
c.24163G>T (p.Glu8055Ter)
n.2126G>T
c.4213G>T (p.Glu1405Ter)
n.9070G>T
c.3316G>T (p.Glu1106Ter)
n.8962G>T
n.1992G>T
n.4400G>T
n.2215G>T
c.1843G>T (p.Glu615Ter)
c.25483G>T (p.Glu8495Ter)
c.25471G>T (p.Glu8491Ter)
c.25462G>T (p.Glu8488Ter)
c.25432G>T (p.Glu8478Ter)
c.25468G>T (p.Glu8490Ter)
c.25414G>T (p.Glu8472Ter)
c.25411G>T (p.Glu8471Ter)
c.25399G>T (p.Glu8467Ter)
c.25342G>T (p.Glu8448Ter)
c.25330G>T (p.Glu8444Ter)
c.25327G>T (p.Glu8443Ter)
c.25324G>T (p.Glu8442Ter)
c.25480G>T (p.Glu8494Ter)
c.25318G>T (p.Glu8440Ter)
c.23758G>T (p.Glu7920Ter)
c.23251G>T (p.Glu7751Ter)
c.18718G>T (p.Glu6240Ter)
c.1984G>T (p.Glu662Ter)
c.25456G>T (p.Glu8486Ter)
c.25405G>T (p.Glu8469Ter)
c.25258G>T (p.Glu8420Ter)
6g.152140030C>GCA366080233SYNE1c.1912G>C (p.Glu638Gln)
c.25378G>C (p.Glu8460Gln)
c.25234G>C (p.Glu8412Gln)
c.780G>C
c.1113G>C
c.1022G>C
c.1150G>C (p.Glu384Gln)
c.24163G>C (p.Glu8055Gln)
n.2126G>C
c.4213G>C (p.Glu1405Gln)
n.9070G>C
c.3316G>C (p.Glu1106Gln)
n.8962G>C
n.1992G>C
n.4400G>C
n.2215G>C
c.1843G>C (p.Glu615Gln)
c.25483G>C (p.Glu8495Gln)
c.25471G>C (p.Glu8491Gln)
c.25462G>C (p.Glu8488Gln)
c.25432G>C (p.Glu8478Gln)
c.25468G>C (p.Glu8490Gln)
c.25414G>C (p.Glu8472Gln)
c.25411G>C (p.Glu8471Gln)
c.25399G>C (p.Glu8467Gln)
c.25342G>C (p.Glu8448Gln)
c.25330G>C (p.Glu8444Gln)
c.25327G>C (p.Glu8443Gln)
c.25324G>C (p.Glu8442Gln)
c.25480G>C (p.Glu8494Gln)
c.25318G>C (p.Glu8440Gln)
c.23758G>C (p.Glu7920Gln)
c.23251G>C (p.Glu7751Gln)
c.18718G>C (p.Glu6240Gln)
c.1984G>C (p.Glu662Gln)
c.25456G>C (p.Glu8486Gln)
c.25405G>C (p.Glu8469Gln)
c.25258G>C (p.Glu8420Gln)
6g.152140030C>TCA366080231SYNE1c.1912G>A (p.Glu638Lys)
c.25378G>A (p.Glu8460Lys)
c.25234G>A (p.Glu8412Lys)
c.780G>A
c.1113G>A
c.1022G>A
c.1150G>A (p.Glu384Lys)
c.24163G>A (p.Glu8055Lys)
n.2126G>A
c.4213G>A (p.Glu1405Lys)
n.9070G>A
c.3316G>A (p.Glu1106Lys)
n.8962G>A
n.1992G>A
n.4400G>A
n.2215G>A
c.1843G>A (p.Glu615Lys)
c.25483G>A (p.Glu8495Lys)
c.25471G>A (p.Glu8491Lys)
c.25462G>A (p.Glu8488Lys)
c.25432G>A (p.Glu8478Lys)
c.25468G>A (p.Glu8490Lys)
c.25414G>A (p.Glu8472Lys)
c.25411G>A (p.Glu8471Lys)
c.25399G>A (p.Glu8467Lys)
c.25342G>A (p.Glu8448Lys)
c.25330G>A (p.Glu8444Lys)
c.25327G>A (p.Glu8443Lys)
c.25324G>A (p.Glu8442Lys)
c.25480G>A (p.Glu8494Lys)
c.25318G>A (p.Glu8440Lys)
c.23758G>A (p.Glu7920Lys)
c.23251G>A (p.Glu7751Lys)
c.18718G>A (p.Glu6240Lys)
c.1984G>A (p.Glu662Lys)
c.25456G>A (p.Glu8486Lys)
c.25405G>A (p.Glu8469Lys)
c.25258G>A (p.Glu8420Lys)
6g.152140031C>ACA452969864SYNE1c.1911G>T (p.Thr637=)
c.25377G>T (p.Thr8459=)
c.25233G>T (p.Thr8411=)
c.779G>T
c.1112G>T
c.1021G>T
c.1149G>T (p.Thr383=)
c.24162G>T (p.Thr8054=)
n.2125G>T
c.4212G>T (p.Thr1404=)
n.9069G>T
c.3315G>T (p.Thr1105=)
n.8961G>T
n.1991G>T
n.4399G>T
n.2214G>T
c.1842G>T (p.Thr614=)
c.25482G>T (p.Thr8494=)
c.25470G>T (p.Thr8490=)
c.25461G>T (p.Thr8487=)
c.25431G>T (p.Thr8477=)
c.25467G>T (p.Thr8489=)
c.25413G>T (p.Thr8471=)
c.25410G>T (p.Thr8470=)
c.25398G>T (p.Thr8466=)
c.25341G>T (p.Thr8447=)
c.25329G>T (p.Thr8443=)
c.25326G>T (p.Thr8442=)
c.25323G>T (p.Thr8441=)
c.25479G>T (p.Thr8493=)
c.25317G>T (p.Thr8439=)
c.23757G>T (p.Thr7919=)
c.23250G>T (p.Thr7750=)
c.18717G>T (p.Thr6239=)
c.1983G>T (p.Thr661=)
c.25455G>T (p.Thr8485=)
c.25404G>T (p.Thr8468=)
c.25257G>T (p.Thr8419=)
6g.152140031C=CA1673206265SYNE1c.1911G= (p.Thr637=)
c.25377G= (p.Thr8459=)
c.25233G= (p.Thr8411=)
c.779G=
c.1112G=
c.1021G=
c.1149G= (p.Thr383=)
c.24162G= (p.Thr8054=)
n.2125G=
c.4212G= (p.Thr1404=)
n.9069G=
c.3315G= (p.Thr1105=)
n.8961G=
n.1991G=
n.4399G=
n.2214G=
c.1842G= (p.Thr614=)
c.25482G= (p.Thr8494=)
c.25470G= (p.Thr8490=)
c.25461G= (p.Thr8487=)
c.25431G= (p.Thr8477=)
c.25467G= (p.Thr8489=)
c.25413G= (p.Thr8471=)
c.25410G= (p.Thr8470=)
c.25398G= (p.Thr8466=)
c.25341G= (p.Thr8447=)
c.25329G= (p.Thr8443=)
c.25326G= (p.Thr8442=)
c.25323G= (p.Thr8441=)
c.25479G= (p.Thr8493=)
c.25317G= (p.Thr8439=)
c.23757G= (p.Thr7919=)
c.23250G= (p.Thr7750=)
c.18717G= (p.Thr6239=)
c.1983G= (p.Thr661=)
c.25455G= (p.Thr8485=)
c.25404G= (p.Thr8468=)
c.25257G= (p.Thr8419=)
6g.152140031C>GCA452969863SYNE1c.1911G>C (p.Thr637=)
c.25377G>C (p.Thr8459=)
c.25233G>C (p.Thr8411=)
c.779G>C
c.1112G>C
c.1021G>C
c.1149G>C (p.Thr383=)
c.24162G>C (p.Thr8054=)
n.2125G>C
c.4212G>C (p.Thr1404=)
n.9069G>C
c.3315G>C (p.Thr1105=)
n.8961G>C
n.1991G>C
n.4399G>C
n.2214G>C
c.1842G>C (p.Thr614=)
c.25482G>C (p.Thr8494=)
c.25470G>C (p.Thr8490=)
c.25461G>C (p.Thr8487=)
c.25431G>C (p.Thr8477=)
c.25467G>C (p.Thr8489=)
c.25413G>C (p.Thr8471=)
c.25410G>C (p.Thr8470=)
c.25398G>C (p.Thr8466=)
c.25341G>C (p.Thr8447=)
c.25329G>C (p.Thr8443=)
c.25326G>C (p.Thr8442=)
c.25323G>C (p.Thr8441=)
c.25479G>C (p.Thr8493=)
c.25317G>C (p.Thr8439=)
c.23757G>C (p.Thr7919=)
c.23250G>C (p.Thr7750=)
c.18717G>C (p.Thr6239=)
c.1983G>C (p.Thr661=)
c.25455G>C (p.Thr8485=)
c.25404G>C (p.Thr8468=)
c.25257G>C (p.Thr8419=)
 ClinVar dbSNP gnomAD v4
6g.152140031C>TCA4052855SYNE1c.1911G>A (p.Thr637=)
c.25377G>A (p.Thr8459=)
c.25233G>A (p.Thr8411=)
c.779G>A
c.1112G>A
c.1021G>A
c.1149G>A (p.Thr383=)
c.24162G>A (p.Thr8054=)
n.2125G>A
c.4212G>A (p.Thr1404=)
n.9069G>A
c.3315G>A (p.Thr1105=)
n.8961G>A
n.1991G>A
n.4399G>A
n.2214G>A
c.1842G>A (p.Thr614=)
c.25482G>A (p.Thr8494=)
c.25470G>A (p.Thr8490=)
c.25461G>A (p.Thr8487=)
c.25431G>A (p.Thr8477=)
c.25467G>A (p.Thr8489=)
c.25413G>A (p.Thr8471=)
c.25410G>A (p.Thr8470=)
c.25398G>A (p.Thr8466=)
c.25341G>A (p.Thr8447=)
c.25329G>A (p.Thr8443=)
c.25326G>A (p.Thr8442=)
c.25323G>A (p.Thr8441=)
c.25479G>A (p.Thr8493=)
c.25317G>A (p.Thr8439=)
c.23757G>A (p.Thr7919=)
c.23250G>A (p.Thr7750=)
c.18717G>A (p.Thr6239=)
c.1983G>A (p.Thr661=)
c.25455G>A (p.Thr8485=)
c.25404G>A (p.Thr8468=)
c.25257G>A (p.Thr8419=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140032G>ACA4052857SYNE1c.1910C>T (p.Thr637Met)
c.25376C>T (p.Thr8459Met)
c.25232C>T (p.Thr8411Met)
c.778C>T
c.1111C>T
c.1020C>T
c.1148C>T (p.Thr383Met)
c.24161C>T (p.Thr8054Met)
n.2124C>T
c.4211C>T (p.Thr1404Met)
n.9068C>T
c.3314C>T (p.Thr1105Met)
n.8960C>T
n.1990C>T
n.4398C>T
n.2213C>T
c.1841C>T (p.Thr614Met)
c.25481C>T (p.Thr8494Met)
c.25469C>T (p.Thr8490Met)
c.25460C>T (p.Thr8487Met)
c.25430C>T (p.Thr8477Met)
c.25466C>T (p.Thr8489Met)
c.25412C>T (p.Thr8471Met)
c.25409C>T (p.Thr8470Met)
c.25397C>T (p.Thr8466Met)
c.25340C>T (p.Thr8447Met)
c.25328C>T (p.Thr8443Met)
c.25325C>T (p.Thr8442Met)
c.25322C>T (p.Thr8441Met)
c.25478C>T (p.Thr8493Met)
c.25316C>T (p.Thr8439Met)
c.23756C>T (p.Thr7919Met)
c.23249C>T (p.Thr7750Met)
c.18716C>T (p.Thr6239Met)
c.1982C>T (p.Thr661Met)
c.25454C>T (p.Thr8485Met)
c.25403C>T (p.Thr8468Met)
c.25256C>T (p.Thr8419Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140032G>CCA366080239SYNE1c.1910C>G (p.Thr637Arg)
c.25376C>G (p.Thr8459Arg)
c.25232C>G (p.Thr8411Arg)
c.778C>G
c.1111C>G
c.1020C>G
c.1148C>G (p.Thr383Arg)
c.24161C>G (p.Thr8054Arg)
n.2124C>G
c.4211C>G (p.Thr1404Arg)
n.9068C>G
c.3314C>G (p.Thr1105Arg)
n.8960C>G
n.1990C>G
n.4398C>G
n.2213C>G
c.1841C>G (p.Thr614Arg)
c.25481C>G (p.Thr8494Arg)
c.25469C>G (p.Thr8490Arg)
c.25460C>G (p.Thr8487Arg)
c.25430C>G (p.Thr8477Arg)
c.25466C>G (p.Thr8489Arg)
c.25412C>G (p.Thr8471Arg)
c.25409C>G (p.Thr8470Arg)
c.25397C>G (p.Thr8466Arg)
c.25340C>G (p.Thr8447Arg)
c.25328C>G (p.Thr8443Arg)
c.25325C>G (p.Thr8442Arg)
c.25322C>G (p.Thr8441Arg)
c.25478C>G (p.Thr8493Arg)
c.25316C>G (p.Thr8439Arg)
c.23756C>G (p.Thr7919Arg)
c.23249C>G (p.Thr7750Arg)
c.18716C>G (p.Thr6239Arg)
c.1982C>G (p.Thr661Arg)
c.25454C>G (p.Thr8485Arg)
c.25403C>G (p.Thr8468Arg)
c.25256C>G (p.Thr8419Arg)
 gnomAD v4
6g.152140032G=CA1673206271SYNE1c.1910C= (p.Thr637=)
c.25376C= (p.Thr8459=)
c.25232C= (p.Thr8411=)
c.778C=
c.1111C=
c.1020C=
c.1148C= (p.Thr383=)
c.24161C= (p.Thr8054=)
n.2124C=
c.4211C= (p.Thr1404=)
n.9068C=
c.3314C= (p.Thr1105=)
n.8960C=
n.1990C=
n.4398C=
n.2213C=
c.1841C= (p.Thr614=)
c.25481C= (p.Thr8494=)
c.25469C= (p.Thr8490=)
c.25460C= (p.Thr8487=)
c.25430C= (p.Thr8477=)
c.25466C= (p.Thr8489=)
c.25412C= (p.Thr8471=)
c.25409C= (p.Thr8470=)
c.25397C= (p.Thr8466=)
c.25340C= (p.Thr8447=)
c.25328C= (p.Thr8443=)
c.25325C= (p.Thr8442=)
c.25322C= (p.Thr8441=)
c.25478C= (p.Thr8493=)
c.25316C= (p.Thr8439=)
c.23756C= (p.Thr7919=)
c.23249C= (p.Thr7750=)
c.18716C= (p.Thr6239=)
c.1982C= (p.Thr661=)
c.25454C= (p.Thr8485=)
c.25403C= (p.Thr8468=)
c.25256C= (p.Thr8419=)
6g.152140032G>TCA4052856SYNE1c.1910C>A (p.Thr637Lys)
c.25376C>A (p.Thr8459Lys)
c.25232C>A (p.Thr8411Lys)
c.778C>A
c.1111C>A
c.1020C>A
c.1148C>A (p.Thr383Lys)
c.24161C>A (p.Thr8054Lys)
n.2124C>A
c.4211C>A (p.Thr1404Lys)
n.9068C>A
c.3314C>A (p.Thr1105Lys)
n.8960C>A
n.1990C>A
n.4398C>A
n.2213C>A
c.1841C>A (p.Thr614Lys)
c.25481C>A (p.Thr8494Lys)
c.25469C>A (p.Thr8490Lys)
c.25460C>A (p.Thr8487Lys)
c.25430C>A (p.Thr8477Lys)
c.25466C>A (p.Thr8489Lys)
c.25412C>A (p.Thr8471Lys)
c.25409C>A (p.Thr8470Lys)
c.25397C>A (p.Thr8466Lys)
c.25340C>A (p.Thr8447Lys)
c.25328C>A (p.Thr8443Lys)
c.25325C>A (p.Thr8442Lys)
c.25322C>A (p.Thr8441Lys)
c.25478C>A (p.Thr8493Lys)
c.25316C>A (p.Thr8439Lys)
c.23756C>A (p.Thr7919Lys)
c.23249C>A (p.Thr7750Lys)
c.18716C>A (p.Thr6239Lys)
c.1982C>A (p.Thr661Lys)
c.25454C>A (p.Thr8485Lys)
c.25403C>A (p.Thr8468Lys)
c.25256C>A (p.Thr8419Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140033T>ACA366080242SYNE1c.1909A>T (p.Thr637Ser)
c.25375A>T (p.Thr8459Ser)
c.25231A>T (p.Thr8411Ser)
c.777A>T
c.1110A>T
c.1019A>T
c.1147A>T (p.Thr383Ser)
c.24160A>T (p.Thr8054Ser)
n.2123A>T
c.4210A>T (p.Thr1404Ser)
n.9067A>T
c.3313A>T (p.Thr1105Ser)
n.8959A>T
n.1989A>T
n.4397A>T
n.2212A>T
c.1840A>T (p.Thr614Ser)
c.25480A>T (p.Thr8494Ser)
c.25468A>T (p.Thr8490Ser)
c.25459A>T (p.Thr8487Ser)
c.25429A>T (p.Thr8477Ser)
c.25465A>T (p.Thr8489Ser)
c.25411A>T (p.Thr8471Ser)
c.25408A>T (p.Thr8470Ser)
c.25396A>T (p.Thr8466Ser)
c.25339A>T (p.Thr8447Ser)
c.25327A>T (p.Thr8443Ser)
c.25324A>T (p.Thr8442Ser)
c.25321A>T (p.Thr8441Ser)
c.25477A>T (p.Thr8493Ser)
c.25315A>T (p.Thr8439Ser)
c.23755A>T (p.Thr7919Ser)
c.23248A>T (p.Thr7750Ser)
c.18715A>T (p.Thr6239Ser)
c.1981A>T (p.Thr661Ser)
c.25453A>T (p.Thr8485Ser)
c.25402A>T (p.Thr8468Ser)
c.25255A>T (p.Thr8419Ser)
6g.152140033T>CCA366080244SYNE1c.1909A>G (p.Thr637Ala)
c.25375A>G (p.Thr8459Ala)
c.25231A>G (p.Thr8411Ala)
c.777A>G
c.1110A>G
c.1019A>G
c.1147A>G (p.Thr383Ala)
c.24160A>G (p.Thr8054Ala)
n.2123A>G
c.4210A>G (p.Thr1404Ala)
n.9067A>G
c.3313A>G (p.Thr1105Ala)
n.8959A>G
n.1989A>G
n.4397A>G
n.2212A>G
c.1840A>G (p.Thr614Ala)
c.25480A>G (p.Thr8494Ala)
c.25468A>G (p.Thr8490Ala)
c.25459A>G (p.Thr8487Ala)
c.25429A>G (p.Thr8477Ala)
c.25465A>G (p.Thr8489Ala)
c.25411A>G (p.Thr8471Ala)
c.25408A>G (p.Thr8470Ala)
c.25396A>G (p.Thr8466Ala)
c.25339A>G (p.Thr8447Ala)
c.25327A>G (p.Thr8443Ala)
c.25324A>G (p.Thr8442Ala)
c.25321A>G (p.Thr8441Ala)
c.25477A>G (p.Thr8493Ala)
c.25315A>G (p.Thr8439Ala)
c.23755A>G (p.Thr7919Ala)
c.23248A>G (p.Thr7750Ala)
c.18715A>G (p.Thr6239Ala)
c.1981A>G (p.Thr661Ala)
c.25453A>G (p.Thr8485Ala)
c.25402A>G (p.Thr8468Ala)
c.25255A>G (p.Thr8419Ala)
6g.152140033T>GCA4052858SYNE1c.1909A>C (p.Thr637Pro)
c.25375A>C (p.Thr8459Pro)
c.25231A>C (p.Thr8411Pro)
c.777A>C
c.1110A>C
c.1019A>C
c.1147A>C (p.Thr383Pro)
c.24160A>C (p.Thr8054Pro)
n.2123A>C
c.4210A>C (p.Thr1404Pro)
n.9067A>C
c.3313A>C (p.Thr1105Pro)
n.8959A>C
n.1989A>C
n.4397A>C
n.2212A>C
c.1840A>C (p.Thr614Pro)
c.25480A>C (p.Thr8494Pro)
c.25468A>C (p.Thr8490Pro)
c.25459A>C (p.Thr8487Pro)
c.25429A>C (p.Thr8477Pro)
c.25465A>C (p.Thr8489Pro)
c.25411A>C (p.Thr8471Pro)
c.25408A>C (p.Thr8470Pro)
c.25396A>C (p.Thr8466Pro)
c.25339A>C (p.Thr8447Pro)
c.25327A>C (p.Thr8443Pro)
c.25324A>C (p.Thr8442Pro)
c.25321A>C (p.Thr8441Pro)
c.25477A>C (p.Thr8493Pro)
c.25315A>C (p.Thr8439Pro)
c.23755A>C (p.Thr7919Pro)
c.23248A>C (p.Thr7750Pro)
c.18715A>C (p.Thr6239Pro)
c.1981A>C (p.Thr661Pro)
c.25453A>C (p.Thr8485Pro)
c.25402A>C (p.Thr8468Pro)
c.25255A>C (p.Thr8419Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140033T=CA1673206275SYNE1c.1909A= (p.Thr637=)
c.25375A= (p.Thr8459=)
c.25231A= (p.Thr8411=)
c.777A=
c.1110A=
c.1019A=
c.1147A= (p.Thr383=)
c.24160A= (p.Thr8054=)
n.2123A=
c.4210A= (p.Thr1404=)
n.9067A=
c.3313A= (p.Thr1105=)
n.8959A=
n.1989A=
n.4397A=
n.2212A=
c.1840A= (p.Thr614=)
c.25480A= (p.Thr8494=)
c.25468A= (p.Thr8490=)
c.25459A= (p.Thr8487=)
c.25429A= (p.Thr8477=)
c.25465A= (p.Thr8489=)
c.25411A= (p.Thr8471=)
c.25408A= (p.Thr8470=)
c.25396A= (p.Thr8466=)
c.25339A= (p.Thr8447=)
c.25327A= (p.Thr8443=)
c.25324A= (p.Thr8442=)
c.25321A= (p.Thr8441=)
c.25477A= (p.Thr8493=)
c.25315A= (p.Thr8439=)
c.23755A= (p.Thr7919=)
c.23248A= (p.Thr7750=)
c.18715A= (p.Thr6239=)
c.1981A= (p.Thr661=)
c.25453A= (p.Thr8485=)
c.25402A= (p.Thr8468=)
c.25255A= (p.Thr8419=)
6g.152140034G>ACA452969866SYNE1c.1908C>T (p.Asp636=)
c.25374C>T (p.Asp8458=)
c.25230C>T (p.Asp8410=)
c.776C>T
c.1109C>T
c.1018C>T
c.1146C>T (p.Asp382=)
c.24159C>T (p.Asp8053=)
n.2122C>T
c.4209C>T (p.Asp1403=)
n.9066C>T
c.3312C>T (p.Asp1104=)
n.8958C>T
n.1988C>T
n.4396C>T
n.2211C>T
c.1839C>T (p.Asp613=)
c.25479C>T (p.Asp8493=)
c.25467C>T (p.Asp8489=)
c.25458C>T (p.Asp8486=)
c.25428C>T (p.Asp8476=)
c.25464C>T (p.Asp8488=)
c.25410C>T (p.Asp8470=)
c.25407C>T (p.Asp8469=)
c.25395C>T (p.Asp8465=)
c.25338C>T (p.Asp8446=)
c.25326C>T (p.Asp8442=)
c.25323C>T (p.Asp8441=)
c.25320C>T (p.Asp8440=)
c.25476C>T (p.Asp8492=)
c.25314C>T (p.Asp8438=)
c.23754C>T (p.Asp7918=)
c.23247C>T (p.Asp7749=)
c.18714C>T (p.Asp6238=)
c.1980C>T (p.Asp660=)
c.25452C>T (p.Asp8484=)
c.25401C>T (p.Asp8467=)
c.25254C>T (p.Asp8418=)
6g.152140034G>CCA366080247SYNE1c.1908C>G (p.Asp636Glu)
c.25374C>G (p.Asp8458Glu)
c.25230C>G (p.Asp8410Glu)
c.776C>G
c.1109C>G
c.1018C>G
c.1146C>G (p.Asp382Glu)
c.24159C>G (p.Asp8053Glu)
n.2122C>G
c.4209C>G (p.Asp1403Glu)
n.9066C>G
c.3312C>G (p.Asp1104Glu)
n.8958C>G
n.1988C>G
n.4396C>G
n.2211C>G
c.1839C>G (p.Asp613Glu)
c.25479C>G (p.Asp8493Glu)
c.25467C>G (p.Asp8489Glu)
c.25458C>G (p.Asp8486Glu)
c.25428C>G (p.Asp8476Glu)
c.25464C>G (p.Asp8488Glu)
c.25410C>G (p.Asp8470Glu)
c.25407C>G (p.Asp8469Glu)
c.25395C>G (p.Asp8465Glu)
c.25338C>G (p.Asp8446Glu)
c.25326C>G (p.Asp8442Glu)
c.25323C>G (p.Asp8441Glu)
c.25320C>G (p.Asp8440Glu)
c.25476C>G (p.Asp8492Glu)
c.25314C>G (p.Asp8438Glu)
c.23754C>G (p.Asp7918Glu)
c.23247C>G (p.Asp7749Glu)
c.18714C>G (p.Asp6238Glu)
c.1980C>G (p.Asp660Glu)
c.25452C>G (p.Asp8484Glu)
c.25401C>G (p.Asp8467Glu)
c.25254C>G (p.Asp8418Glu)
6g.152140034G>TCA366080249SYNE1c.1908C>A (p.Asp636Glu)
c.25374C>A (p.Asp8458Glu)
c.25230C>A (p.Asp8410Glu)
c.776C>A
c.1109C>A
c.1018C>A
c.1146C>A (p.Asp382Glu)
c.24159C>A (p.Asp8053Glu)
n.2122C>A
c.4209C>A (p.Asp1403Glu)
n.9066C>A
c.3312C>A (p.Asp1104Glu)
n.8958C>A
n.1988C>A
n.4396C>A
n.2211C>A
c.1839C>A (p.Asp613Glu)
c.25479C>A (p.Asp8493Glu)
c.25467C>A (p.Asp8489Glu)
c.25458C>A (p.Asp8486Glu)
c.25428C>A (p.Asp8476Glu)
c.25464C>A (p.Asp8488Glu)
c.25410C>A (p.Asp8470Glu)
c.25407C>A (p.Asp8469Glu)
c.25395C>A (p.Asp8465Glu)
c.25338C>A (p.Asp8446Glu)
c.25326C>A (p.Asp8442Glu)
c.25323C>A (p.Asp8441Glu)
c.25320C>A (p.Asp8440Glu)
c.25476C>A (p.Asp8492Glu)
c.25314C>A (p.Asp8438Glu)
c.23754C>A (p.Asp7918Glu)
c.23247C>A (p.Asp7749Glu)
c.18714C>A (p.Asp6238Glu)
c.1980C>A (p.Asp660Glu)
c.25452C>A (p.Asp8484Glu)
c.25401C>A (p.Asp8467Glu)
c.25254C>A (p.Asp8418Glu)
6g.152140035T>ACA366080251SYNE1c.1907A>T (p.Asp636Val)
c.25373A>T (p.Asp8458Val)
c.25229A>T (p.Asp8410Val)
c.775A>T
c.1108A>T
c.1017A>T
c.1145A>T (p.Asp382Val)
c.24158A>T (p.Asp8053Val)
n.2121A>T
c.4208A>T (p.Asp1403Val)
n.9065A>T
c.3311A>T (p.Asp1104Val)
n.8957A>T
n.1987A>T
n.4395A>T
n.2210A>T
c.1838A>T (p.Asp613Val)
c.25478A>T (p.Asp8493Val)
c.25466A>T (p.Asp8489Val)
c.25457A>T (p.Asp8486Val)
c.25427A>T (p.Asp8476Val)
c.25463A>T (p.Asp8488Val)
c.25409A>T (p.Asp8470Val)
c.25406A>T (p.Asp8469Val)
c.25394A>T (p.Asp8465Val)
c.25337A>T (p.Asp8446Val)
c.25325A>T (p.Asp8442Val)
c.25322A>T (p.Asp8441Val)
c.25319A>T (p.Asp8440Val)
c.25475A>T (p.Asp8492Val)
c.25313A>T (p.Asp8438Val)
c.23753A>T (p.Asp7918Val)
c.23246A>T (p.Asp7749Val)
c.18713A>T (p.Asp6238Val)
c.1979A>T (p.Asp660Val)
c.25451A>T (p.Asp8484Val)
c.25400A>T (p.Asp8467Val)
c.25253A>T (p.Asp8418Val)
6g.152140035T>CCA366080252SYNE1c.1907A>G (p.Asp636Gly)
c.25373A>G (p.Asp8458Gly)
c.25229A>G (p.Asp8410Gly)
c.775A>G
c.1108A>G
c.1017A>G
c.1145A>G (p.Asp382Gly)
c.24158A>G (p.Asp8053Gly)
n.2121A>G
c.4208A>G (p.Asp1403Gly)
n.9065A>G
c.3311A>G (p.Asp1104Gly)
n.8957A>G
n.1987A>G
n.4395A>G
n.2210A>G
c.1838A>G (p.Asp613Gly)
c.25478A>G (p.Asp8493Gly)
c.25466A>G (p.Asp8489Gly)
c.25457A>G (p.Asp8486Gly)
c.25427A>G (p.Asp8476Gly)
c.25463A>G (p.Asp8488Gly)
c.25409A>G (p.Asp8470Gly)
c.25406A>G (p.Asp8469Gly)
c.25394A>G (p.Asp8465Gly)
c.25337A>G (p.Asp8446Gly)
c.25325A>G (p.Asp8442Gly)
c.25322A>G (p.Asp8441Gly)
c.25319A>G (p.Asp8440Gly)
c.25475A>G (p.Asp8492Gly)
c.25313A>G (p.Asp8438Gly)
c.23753A>G (p.Asp7918Gly)
c.23246A>G (p.Asp7749Gly)
c.18713A>G (p.Asp6238Gly)
c.1979A>G (p.Asp660Gly)
c.25451A>G (p.Asp8484Gly)
c.25400A>G (p.Asp8467Gly)
c.25253A>G (p.Asp8418Gly)
 gnomAD v3 gnomAD v4
6g.152140035T>GCA366080254SYNE1c.1907A>C (p.Asp636Ala)
c.25373A>C (p.Asp8458Ala)
c.25229A>C (p.Asp8410Ala)
c.775A>C
c.1108A>C
c.1017A>C
c.1145A>C (p.Asp382Ala)
c.24158A>C (p.Asp8053Ala)
n.2121A>C
c.4208A>C (p.Asp1403Ala)
n.9065A>C
c.3311A>C (p.Asp1104Ala)
n.8957A>C
n.1987A>C
n.4395A>C
n.2210A>C
c.1838A>C (p.Asp613Ala)
c.25478A>C (p.Asp8493Ala)
c.25466A>C (p.Asp8489Ala)
c.25457A>C (p.Asp8486Ala)
c.25427A>C (p.Asp8476Ala)
c.25463A>C (p.Asp8488Ala)
c.25409A>C (p.Asp8470Ala)
c.25406A>C (p.Asp8469Ala)
c.25394A>C (p.Asp8465Ala)
c.25337A>C (p.Asp8446Ala)
c.25325A>C (p.Asp8442Ala)
c.25322A>C (p.Asp8441Ala)
c.25319A>C (p.Asp8440Ala)
c.25475A>C (p.Asp8492Ala)
c.25313A>C (p.Asp8438Ala)
c.23753A>C (p.Asp7918Ala)
c.23246A>C (p.Asp7749Ala)
c.18713A>C (p.Asp6238Ala)
c.1979A>C (p.Asp660Ala)
c.25451A>C (p.Asp8484Ala)
c.25400A>C (p.Asp8467Ala)
c.25253A>C (p.Asp8418Ala)
6g.152140036C>ACA366080259SYNE1c.1906G>T (p.Asp636Tyr)
c.25372G>T (p.Asp8458Tyr)
c.25228G>T (p.Asp8410Tyr)
c.774G>T
c.1107G>T
c.1016G>T
c.1144G>T (p.Asp382Tyr)
c.24157G>T (p.Asp8053Tyr)
n.2120G>T
c.4207G>T (p.Asp1403Tyr)
n.9064G>T
c.3310G>T (p.Asp1104Tyr)
n.8956G>T
n.1986G>T
n.4394G>T
n.2209G>T
c.1837G>T (p.Asp613Tyr)
c.25477G>T (p.Asp8493Tyr)
c.25465G>T (p.Asp8489Tyr)
c.25456G>T (p.Asp8486Tyr)
c.25426G>T (p.Asp8476Tyr)
c.25462G>T (p.Asp8488Tyr)
c.25408G>T (p.Asp8470Tyr)
c.25405G>T (p.Asp8469Tyr)
c.25393G>T (p.Asp8465Tyr)
c.25336G>T (p.Asp8446Tyr)
c.25324G>T (p.Asp8442Tyr)
c.25321G>T (p.Asp8441Tyr)
c.25318G>T (p.Asp8440Tyr)
c.25474G>T (p.Asp8492Tyr)
c.25312G>T (p.Asp8438Tyr)
c.23752G>T (p.Asp7918Tyr)
c.23245G>T (p.Asp7749Tyr)
c.18712G>T (p.Asp6238Tyr)
c.1978G>T (p.Asp660Tyr)
c.25450G>T (p.Asp8484Tyr)
c.25399G>T (p.Asp8467Tyr)
c.25252G>T (p.Asp8418Tyr)
6g.152140036C>GCA366080258SYNE1c.1906G>C (p.Asp636His)
c.25372G>C (p.Asp8458His)
c.25228G>C (p.Asp8410His)
c.774G>C
c.1107G>C
c.1016G>C
c.1144G>C (p.Asp382His)
c.24157G>C (p.Asp8053His)
n.2120G>C
c.4207G>C (p.Asp1403His)
n.9064G>C
c.3310G>C (p.Asp1104His)
n.8956G>C
n.1986G>C
n.4394G>C
n.2209G>C
c.1837G>C (p.Asp613His)
c.25477G>C (p.Asp8493His)
c.25465G>C (p.Asp8489His)
c.25456G>C (p.Asp8486His)
c.25426G>C (p.Asp8476His)
c.25462G>C (p.Asp8488His)
c.25408G>C (p.Asp8470His)
c.25405G>C (p.Asp8469His)
c.25393G>C (p.Asp8465His)
c.25336G>C (p.Asp8446His)
c.25324G>C (p.Asp8442His)
c.25321G>C (p.Asp8441His)
c.25318G>C (p.Asp8440His)
c.25474G>C (p.Asp8492His)
c.25312G>C (p.Asp8438His)
c.23752G>C (p.Asp7918His)
c.23245G>C (p.Asp7749His)
c.18712G>C (p.Asp6238His)
c.1978G>C (p.Asp660His)
c.25450G>C (p.Asp8484His)
c.25399G>C (p.Asp8467His)
c.25252G>C (p.Asp8418His)
6g.152140036C>TCA366080256SYNE1c.1906G>A (p.Asp636Asn)
c.25372G>A (p.Asp8458Asn)
c.25228G>A (p.Asp8410Asn)
c.774G>A
c.1107G>A
c.1016G>A
c.1144G>A (p.Asp382Asn)
c.24157G>A (p.Asp8053Asn)
n.2120G>A
c.4207G>A (p.Asp1403Asn)
n.9064G>A
c.3310G>A (p.Asp1104Asn)
n.8956G>A
n.1986G>A
n.4394G>A
n.2209G>A
c.1837G>A (p.Asp613Asn)
c.25477G>A (p.Asp8493Asn)
c.25465G>A (p.Asp8489Asn)
c.25456G>A (p.Asp8486Asn)
c.25426G>A (p.Asp8476Asn)
c.25462G>A (p.Asp8488Asn)
c.25408G>A (p.Asp8470Asn)
c.25405G>A (p.Asp8469Asn)
c.25393G>A (p.Asp8465Asn)
c.25336G>A (p.Asp8446Asn)
c.25324G>A (p.Asp8442Asn)
c.25321G>A (p.Asp8441Asn)
c.25318G>A (p.Asp8440Asn)
c.25474G>A (p.Asp8492Asn)
c.25312G>A (p.Asp8438Asn)
c.23752G>A (p.Asp7918Asn)
c.23245G>A (p.Asp7749Asn)
c.18712G>A (p.Asp6238Asn)
c.1978G>A (p.Asp660Asn)
c.25450G>A (p.Asp8484Asn)
c.25399G>A (p.Asp8467Asn)
c.25252G>A (p.Asp8418Asn)
6g.152140037C>ACA452969868SYNE1c.1905G>T (p.Gly635=)
c.25371G>T (p.Gly8457=)
c.25227G>T (p.Gly8409=)
c.773G>T
c.1106G>T
c.1015G>T
c.1143G>T (p.Gly381=)
c.24156G>T (p.Gly8052=)
n.2119G>T
c.4206G>T (p.Gly1402=)
n.9063G>T
c.3309G>T (p.Gly1103=)
n.8955G>T
n.1985G>T
n.4393G>T
n.2208G>T
c.1836G>T (p.Gly612=)
c.25476G>T (p.Gly8492=)
c.25464G>T (p.Gly8488=)
c.25455G>T (p.Gly8485=)
c.25425G>T (p.Gly8475=)
c.25461G>T (p.Gly8487=)
c.25407G>T (p.Gly8469=)
c.25404G>T (p.Gly8468=)
c.25392G>T (p.Gly8464=)
c.25335G>T (p.Gly8445=)
c.25323G>T (p.Gly8441=)
c.25320G>T (p.Gly8440=)
c.25317G>T (p.Gly8439=)
c.25473G>T (p.Gly8491=)
c.25311G>T (p.Gly8437=)
c.23751G>T (p.Gly7917=)
c.23244G>T (p.Gly7748=)
c.18711G>T (p.Gly6237=)
c.1977G>T (p.Gly659=)
c.25449G>T (p.Gly8483=)
c.25398G>T (p.Gly8466=)
c.25251G>T (p.Gly8417=)
6g.152140037C=CA1673206279SYNE1c.1905G= (p.Gly635=)
c.25371G= (p.Gly8457=)
c.25227G= (p.Gly8409=)
c.773G=
c.1106G=
c.1015G=
c.1143G= (p.Gly381=)
c.24156G= (p.Gly8052=)
n.2119G=
c.4206G= (p.Gly1402=)
n.9063G=
c.3309G= (p.Gly1103=)
n.8955G=
n.1985G=
n.4393G=
n.2208G=
c.1836G= (p.Gly612=)
c.25476G= (p.Gly8492=)
c.25464G= (p.Gly8488=)
c.25455G= (p.Gly8485=)
c.25425G= (p.Gly8475=)
c.25461G= (p.Gly8487=)
c.25407G= (p.Gly8469=)
c.25404G= (p.Gly8468=)
c.25392G= (p.Gly8464=)
c.25335G= (p.Gly8445=)
c.25323G= (p.Gly8441=)
c.25320G= (p.Gly8440=)
c.25317G= (p.Gly8439=)
c.25473G= (p.Gly8491=)
c.25311G= (p.Gly8437=)
c.23751G= (p.Gly7917=)
c.23244G= (p.Gly7748=)
c.18711G= (p.Gly6237=)
c.1977G= (p.Gly659=)
c.25449G= (p.Gly8483=)
c.25398G= (p.Gly8466=)
c.25251G= (p.Gly8417=)
6g.152140037C>GCA452969869SYNE1c.1905G>C (p.Gly635=)
c.25371G>C (p.Gly8457=)
c.25227G>C (p.Gly8409=)
c.773G>C
c.1106G>C
c.1015G>C
c.1143G>C (p.Gly381=)
c.24156G>C (p.Gly8052=)
n.2119G>C
c.4206G>C (p.Gly1402=)
n.9063G>C
c.3309G>C (p.Gly1103=)
n.8955G>C
n.1985G>C
n.4393G>C
n.2208G>C
c.1836G>C (p.Gly612=)
c.25476G>C (p.Gly8492=)
c.25464G>C (p.Gly8488=)
c.25455G>C (p.Gly8485=)
c.25425G>C (p.Gly8475=)
c.25461G>C (p.Gly8487=)
c.25407G>C (p.Gly8469=)
c.25404G>C (p.Gly8468=)
c.25392G>C (p.Gly8464=)
c.25335G>C (p.Gly8445=)
c.25323G>C (p.Gly8441=)
c.25320G>C (p.Gly8440=)
c.25317G>C (p.Gly8439=)
c.25473G>C (p.Gly8491=)
c.25311G>C (p.Gly8437=)
c.23751G>C (p.Gly7917=)
c.23244G>C (p.Gly7748=)
c.18711G>C (p.Gly6237=)
c.1977G>C (p.Gly659=)
c.25449G>C (p.Gly8483=)
c.25398G>C (p.Gly8466=)
c.25251G>C (p.Gly8417=)
6g.152140037C>TCA452969870SYNE1c.1905G>A (p.Gly635=)
c.25371G>A (p.Gly8457=)
c.25227G>A (p.Gly8409=)
c.773G>A
c.1106G>A
c.1015G>A
c.1143G>A (p.Gly381=)
c.24156G>A (p.Gly8052=)
n.2119G>A
c.4206G>A (p.Gly1402=)
n.9063G>A
c.3309G>A (p.Gly1103=)
n.8955G>A
n.1985G>A
n.4393G>A
n.2208G>A
c.1836G>A (p.Gly612=)
c.25476G>A (p.Gly8492=)
c.25464G>A (p.Gly8488=)
c.25455G>A (p.Gly8485=)
c.25425G>A (p.Gly8475=)
c.25461G>A (p.Gly8487=)
c.25407G>A (p.Gly8469=)
c.25404G>A (p.Gly8468=)
c.25392G>A (p.Gly8464=)
c.25335G>A (p.Gly8445=)
c.25323G>A (p.Gly8441=)
c.25320G>A (p.Gly8440=)
c.25317G>A (p.Gly8439=)
c.25473G>A (p.Gly8491=)
c.25311G>A (p.Gly8437=)
c.23751G>A (p.Gly7917=)
c.23244G>A (p.Gly7748=)
c.18711G>A (p.Gly6237=)
c.1977G>A (p.Gly659=)
c.25449G>A (p.Gly8483=)
c.25398G>A (p.Gly8466=)
c.25251G>A (p.Gly8417=)
 dbSNP
6g.152140038C>ACA366080260SYNE1c.1904G>T (p.Gly635Val)
c.25370G>T (p.Gly8457Val)
c.25226G>T (p.Gly8409Val)
c.772G>T
c.1105G>T
c.1014G>T
c.1142G>T (p.Gly381Val)
c.24155G>T (p.Gly8052Val)
n.2118G>T
c.4205G>T (p.Gly1402Val)
n.9062G>T
c.3308G>T (p.Gly1103Val)
n.8954G>T
n.1984G>T
n.4392G>T
n.2207G>T
c.1835G>T (p.Gly612Val)
c.25475G>T (p.Gly8492Val)
c.25463G>T (p.Gly8488Val)
c.25454G>T (p.Gly8485Val)
c.25424G>T (p.Gly8475Val)
c.25460G>T (p.Gly8487Val)
c.25406G>T (p.Gly8469Val)
c.25403G>T (p.Gly8468Val)
c.25391G>T (p.Gly8464Val)
c.25334G>T (p.Gly8445Val)
c.25322G>T (p.Gly8441Val)
c.25319G>T (p.Gly8440Val)
c.25316G>T (p.Gly8439Val)
c.25472G>T (p.Gly8491Val)
c.25310G>T (p.Gly8437Val)
c.23750G>T (p.Gly7917Val)
c.23243G>T (p.Gly7748Val)
c.18710G>T (p.Gly6237Val)
c.1976G>T (p.Gly659Val)
c.25448G>T (p.Gly8483Val)
c.25397G>T (p.Gly8466Val)
c.25250G>T (p.Gly8417Val)
6g.152140038C=CA1673206282SYNE1c.1904G= (p.Gly635=)
c.25370G= (p.Gly8457=)
c.25226G= (p.Gly8409=)
c.772G=
c.1105G=
c.1014G=
c.1142G= (p.Gly381=)
c.24155G= (p.Gly8052=)
n.2118G=
c.4205G= (p.Gly1402=)
n.9062G=
c.3308G= (p.Gly1103=)
n.8954G=
n.1984G=
n.4392G=
n.2207G=
c.1835G= (p.Gly612=)
c.25475G= (p.Gly8492=)
c.25463G= (p.Gly8488=)
c.25454G= (p.Gly8485=)
c.25424G= (p.Gly8475=)
c.25460G= (p.Gly8487=)
c.25406G= (p.Gly8469=)
c.25403G= (p.Gly8468=)
c.25391G= (p.Gly8464=)
c.25334G= (p.Gly8445=)
c.25322G= (p.Gly8441=)
c.25319G= (p.Gly8440=)
c.25316G= (p.Gly8439=)
c.25472G= (p.Gly8491=)
c.25310G= (p.Gly8437=)
c.23750G= (p.Gly7917=)
c.23243G= (p.Gly7748=)
c.18710G= (p.Gly6237=)
c.1976G= (p.Gly659=)
c.25448G= (p.Gly8483=)
c.25397G= (p.Gly8466=)
c.25250G= (p.Gly8417=)
6g.152140038C>GCA366080263SYNE1c.1904G>C (p.Gly635Ala)
c.25370G>C (p.Gly8457Ala)
c.25226G>C (p.Gly8409Ala)
c.772G>C
c.1105G>C
c.1014G>C
c.1142G>C (p.Gly381Ala)
c.24155G>C (p.Gly8052Ala)
n.2118G>C
c.4205G>C (p.Gly1402Ala)
n.9062G>C
c.3308G>C (p.Gly1103Ala)
n.8954G>C
n.1984G>C
n.4392G>C
n.2207G>C
c.1835G>C (p.Gly612Ala)
c.25475G>C (p.Gly8492Ala)
c.25463G>C (p.Gly8488Ala)
c.25454G>C (p.Gly8485Ala)
c.25424G>C (p.Gly8475Ala)
c.25460G>C (p.Gly8487Ala)
c.25406G>C (p.Gly8469Ala)
c.25403G>C (p.Gly8468Ala)
c.25391G>C (p.Gly8464Ala)
c.25334G>C (p.Gly8445Ala)
c.25322G>C (p.Gly8441Ala)
c.25319G>C (p.Gly8440Ala)
c.25316G>C (p.Gly8439Ala)
c.25472G>C (p.Gly8491Ala)
c.25310G>C (p.Gly8437Ala)
c.23750G>C (p.Gly7917Ala)
c.23243G>C (p.Gly7748Ala)
c.18710G>C (p.Gly6237Ala)
c.1976G>C (p.Gly659Ala)
c.25448G>C (p.Gly8483Ala)
c.25397G>C (p.Gly8466Ala)
c.25250G>C (p.Gly8417Ala)
6g.152140038C>TCA4052859SYNE1c.1904G>A (p.Gly635Glu)
c.25370G>A (p.Gly8457Glu)
c.25226G>A (p.Gly8409Glu)
c.772G>A
c.1105G>A
c.1014G>A
c.1142G>A (p.Gly381Glu)
c.24155G>A (p.Gly8052Glu)
n.2118G>A
c.4205G>A (p.Gly1402Glu)
n.9062G>A
c.3308G>A (p.Gly1103Glu)
n.8954G>A
n.1984G>A
n.4392G>A
n.2207G>A
c.1835G>A (p.Gly612Glu)
c.25475G>A (p.Gly8492Glu)
c.25463G>A (p.Gly8488Glu)
c.25454G>A (p.Gly8485Glu)
c.25424G>A (p.Gly8475Glu)
c.25460G>A (p.Gly8487Glu)
c.25406G>A (p.Gly8469Glu)
c.25403G>A (p.Gly8468Glu)
c.25391G>A (p.Gly8464Glu)
c.25334G>A (p.Gly8445Glu)
c.25322G>A (p.Gly8441Glu)
c.25319G>A (p.Gly8440Glu)
c.25316G>A (p.Gly8439Glu)
c.25472G>A (p.Gly8491Glu)
c.25310G>A (p.Gly8437Glu)
c.23750G>A (p.Gly7917Glu)
c.23243G>A (p.Gly7748Glu)
c.18710G>A (p.Gly6237Glu)
c.1976G>A (p.Gly659Glu)
c.25448G>A (p.Gly8483Glu)
c.25397G>A (p.Gly8466Glu)
c.25250G>A (p.Gly8417Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140039C>ACA366080271SYNE1c.1903G>T (p.Gly635Trp)
c.25369G>T (p.Gly8457Trp)
c.25225G>T (p.Gly8409Trp)
c.771G>T
c.1104G>T
c.1013G>T
c.1141G>T (p.Gly381Trp)
c.24154G>T (p.Gly8052Trp)
n.2117G>T
c.4204G>T (p.Gly1402Trp)
n.9061G>T
c.3307G>T (p.Gly1103Trp)
n.8953G>T
n.1983G>T
n.4391G>T
n.2206G>T
c.1834G>T (p.Gly612Trp)
c.25474G>T (p.Gly8492Trp)
c.25462G>T (p.Gly8488Trp)
c.25453G>T (p.Gly8485Trp)
c.25423G>T (p.Gly8475Trp)
c.25459G>T (p.Gly8487Trp)
c.25405G>T (p.Gly8469Trp)
c.25402G>T (p.Gly8468Trp)
c.25390G>T (p.Gly8464Trp)
c.25333G>T (p.Gly8445Trp)
c.25321G>T (p.Gly8441Trp)
c.25318G>T (p.Gly8440Trp)
c.25315G>T (p.Gly8439Trp)
c.25471G>T (p.Gly8491Trp)
c.25309G>T (p.Gly8437Trp)
c.23749G>T (p.Gly7917Trp)
c.23242G>T (p.Gly7748Trp)
c.18709G>T (p.Gly6237Trp)
c.1975G>T (p.Gly659Trp)
c.25447G>T (p.Gly8483Trp)
c.25396G>T (p.Gly8466Trp)
c.25249G>T (p.Gly8417Trp)
6g.152140039C>GCA366080275SYNE1c.1903G>C (p.Gly635Arg)
c.25369G>C (p.Gly8457Arg)
c.25225G>C (p.Gly8409Arg)
c.771G>C
c.1104G>C
c.1013G>C
c.1141G>C (p.Gly381Arg)
c.24154G>C (p.Gly8052Arg)
n.2117G>C
c.4204G>C (p.Gly1402Arg)
n.9061G>C
c.3307G>C (p.Gly1103Arg)
n.8953G>C
n.1983G>C
n.4391G>C
n.2206G>C
c.1834G>C (p.Gly612Arg)
c.25474G>C (p.Gly8492Arg)
c.25462G>C (p.Gly8488Arg)
c.25453G>C (p.Gly8485Arg)
c.25423G>C (p.Gly8475Arg)
c.25459G>C (p.Gly8487Arg)
c.25405G>C (p.Gly8469Arg)
c.25402G>C (p.Gly8468Arg)
c.25390G>C (p.Gly8464Arg)
c.25333G>C (p.Gly8445Arg)
c.25321G>C (p.Gly8441Arg)
c.25318G>C (p.Gly8440Arg)
c.25315G>C (p.Gly8439Arg)
c.25471G>C (p.Gly8491Arg)
c.25309G>C (p.Gly8437Arg)
c.23749G>C (p.Gly7917Arg)
c.23242G>C (p.Gly7748Arg)
c.18709G>C (p.Gly6237Arg)
c.1975G>C (p.Gly659Arg)
c.25447G>C (p.Gly8483Arg)
c.25396G>C (p.Gly8466Arg)
c.25249G>C (p.Gly8417Arg)
6g.152140039C>TCA366080277SYNE1c.1903G>A (p.Gly635Arg)
c.25369G>A (p.Gly8457Arg)
c.25225G>A (p.Gly8409Arg)
c.771G>A
c.1104G>A
c.1013G>A
c.1141G>A (p.Gly381Arg)
c.24154G>A (p.Gly8052Arg)
n.2117G>A
c.4204G>A (p.Gly1402Arg)
n.9061G>A
c.3307G>A (p.Gly1103Arg)
n.8953G>A
n.1983G>A
n.4391G>A
n.2206G>A
c.1834G>A (p.Gly612Arg)
c.25474G>A (p.Gly8492Arg)
c.25462G>A (p.Gly8488Arg)
c.25453G>A (p.Gly8485Arg)
c.25423G>A (p.Gly8475Arg)
c.25459G>A (p.Gly8487Arg)
c.25405G>A (p.Gly8469Arg)
c.25402G>A (p.Gly8468Arg)
c.25390G>A (p.Gly8464Arg)
c.25333G>A (p.Gly8445Arg)
c.25321G>A (p.Gly8441Arg)
c.25318G>A (p.Gly8440Arg)
c.25315G>A (p.Gly8439Arg)
c.25471G>A (p.Gly8491Arg)
c.25309G>A (p.Gly8437Arg)
c.23749G>A (p.Gly7917Arg)
c.23242G>A (p.Gly7748Arg)
c.18709G>A (p.Gly6237Arg)
c.1975G>A (p.Gly659Arg)
c.25447G>A (p.Gly8483Arg)
c.25396G>A (p.Gly8466Arg)
c.25249G>A (p.Gly8417Arg)
 gnomAD v4
6g.152140040C>ACA452969872SYNE1c.1902G>T (p.Leu634=)
c.25368G>T (p.Leu8456=)
c.25224G>T (p.Leu8408=)
c.770G>T
c.1103G>T
c.1012G>T
c.1140G>T (p.Leu380=)
c.24153G>T (p.Leu8051=)
n.2116G>T
c.4203G>T (p.Leu1401=)
n.9060G>T
c.3306G>T (p.Leu1102=)
n.8952G>T
n.1982G>T
n.4390G>T
n.2205G>T
c.1833G>T (p.Leu611=)
c.25473G>T (p.Leu8491=)
c.25461G>T (p.Leu8487=)
c.25452G>T (p.Leu8484=)
c.25422G>T (p.Leu8474=)
c.25458G>T (p.Leu8486=)
c.25404G>T (p.Leu8468=)
c.25401G>T (p.Leu8467=)
c.25389G>T (p.Leu8463=)
c.25332G>T (p.Leu8444=)
c.25320G>T (p.Leu8440=)
c.25317G>T (p.Leu8439=)
c.25314G>T (p.Leu8438=)
c.25470G>T (p.Leu8490=)
c.25308G>T (p.Leu8436=)
c.23748G>T (p.Leu7916=)
c.23241G>T (p.Leu7747=)
c.18708G>T (p.Leu6236=)
c.1974G>T (p.Leu658=)
c.25446G>T (p.Leu8482=)
c.25395G>T (p.Leu8465=)
c.25248G>T (p.Leu8416=)
6g.152140040C>GCA452969873SYNE1c.1902G>C (p.Leu634=)
c.25368G>C (p.Leu8456=)
c.25224G>C (p.Leu8408=)
c.770G>C
c.1103G>C
c.1012G>C
c.1140G>C (p.Leu380=)
c.24153G>C (p.Leu8051=)
n.2116G>C
c.4203G>C (p.Leu1401=)
n.9060G>C
c.3306G>C (p.Leu1102=)
n.8952G>C
n.1982G>C
n.4390G>C
n.2205G>C
c.1833G>C (p.Leu611=)
c.25473G>C (p.Leu8491=)
c.25461G>C (p.Leu8487=)
c.25452G>C (p.Leu8484=)
c.25422G>C (p.Leu8474=)
c.25458G>C (p.Leu8486=)
c.25404G>C (p.Leu8468=)
c.25401G>C (p.Leu8467=)
c.25389G>C (p.Leu8463=)
c.25332G>C (p.Leu8444=)
c.25320G>C (p.Leu8440=)
c.25317G>C (p.Leu8439=)
c.25314G>C (p.Leu8438=)
c.25470G>C (p.Leu8490=)
c.25308G>C (p.Leu8436=)
c.23748G>C (p.Leu7916=)
c.23241G>C (p.Leu7747=)
c.18708G>C (p.Leu6236=)
c.1974G>C (p.Leu658=)
c.25446G>C (p.Leu8482=)
c.25395G>C (p.Leu8465=)
c.25248G>C (p.Leu8416=)
6g.152140040C>TCA452969874SYNE1c.1902G>A (p.Leu634=)
c.25368G>A (p.Leu8456=)
c.25224G>A (p.Leu8408=)
c.770G>A
c.1103G>A
c.1012G>A
c.1140G>A (p.Leu380=)
c.24153G>A (p.Leu8051=)
n.2116G>A
c.4203G>A (p.Leu1401=)
n.9060G>A
c.3306G>A (p.Leu1102=)
n.8952G>A
n.1982G>A
n.4390G>A
n.2205G>A
c.1833G>A (p.Leu611=)
c.25473G>A (p.Leu8491=)
c.25461G>A (p.Leu8487=)
c.25452G>A (p.Leu8484=)
c.25422G>A (p.Leu8474=)
c.25458G>A (p.Leu8486=)
c.25404G>A (p.Leu8468=)
c.25401G>A (p.Leu8467=)
c.25389G>A (p.Leu8463=)
c.25332G>A (p.Leu8444=)
c.25320G>A (p.Leu8440=)
c.25317G>A (p.Leu8439=)
c.25314G>A (p.Leu8438=)
c.25470G>A (p.Leu8490=)
c.25308G>A (p.Leu8436=)
c.23748G>A (p.Leu7916=)
c.23241G>A (p.Leu7747=)
c.18708G>A (p.Leu6236=)
c.1974G>A (p.Leu658=)
c.25446G>A (p.Leu8482=)
c.25395G>A (p.Leu8465=)
c.25248G>A (p.Leu8416=)
6g.152140041A=CA1673206285SYNE1c.1901T= (p.Leu634=)
c.25367T= (p.Leu8456=)
c.25223T= (p.Leu8408=)
c.769T=
c.1102T=
c.1011T=
c.1139T= (p.Leu380=)
c.24152T= (p.Leu8051=)
n.2115T=
c.4202T= (p.Leu1401=)
n.9059T=
c.3305T= (p.Leu1102=)
n.8951T=
n.1981T=
n.4389T=
n.2204T=
c.1832T= (p.Leu611=)
c.25472T= (p.Leu8491=)
c.25460T= (p.Leu8487=)
c.25451T= (p.Leu8484=)
c.25421T= (p.Leu8474=)
c.25457T= (p.Leu8486=)
c.25403T= (p.Leu8468=)
c.25400T= (p.Leu8467=)
c.25388T= (p.Leu8463=)
c.25331T= (p.Leu8444=)
c.25319T= (p.Leu8440=)
c.25316T= (p.Leu8439=)
c.25313T= (p.Leu8438=)
c.25469T= (p.Leu8490=)
c.25307T= (p.Leu8436=)
c.23747T= (p.Leu7916=)
c.23240T= (p.Leu7747=)
c.18707T= (p.Leu6236=)
c.1973T= (p.Leu658=)
c.25445T= (p.Leu8482=)
c.25394T= (p.Leu8465=)
c.25247T= (p.Leu8416=)
6g.152140041A>CCA366080280SYNE1c.1901T>G (p.Leu634Arg)
c.25367T>G (p.Leu8456Arg)
c.25223T>G (p.Leu8408Arg)
c.769T>G
c.1102T>G
c.1011T>G
c.1139T>G (p.Leu380Arg)
c.24152T>G (p.Leu8051Arg)
n.2115T>G
c.4202T>G (p.Leu1401Arg)
n.9059T>G
c.3305T>G (p.Leu1102Arg)
n.8951T>G
n.1981T>G
n.4389T>G
n.2204T>G
c.1832T>G (p.Leu611Arg)
c.25472T>G (p.Leu8491Arg)
c.25460T>G (p.Leu8487Arg)
c.25451T>G (p.Leu8484Arg)
c.25421T>G (p.Leu8474Arg)
c.25457T>G (p.Leu8486Arg)
c.25403T>G (p.Leu8468Arg)
c.25400T>G (p.Leu8467Arg)
c.25388T>G (p.Leu8463Arg)
c.25331T>G (p.Leu8444Arg)
c.25319T>G (p.Leu8440Arg)
c.25316T>G (p.Leu8439Arg)
c.25313T>G (p.Leu8438Arg)
c.25469T>G (p.Leu8490Arg)
c.25307T>G (p.Leu8436Arg)
c.23747T>G (p.Leu7916Arg)
c.23240T>G (p.Leu7747Arg)
c.18707T>G (p.Leu6236Arg)
c.1973T>G (p.Leu658Arg)
c.25445T>G (p.Leu8482Arg)
c.25394T>G (p.Leu8465Arg)
c.25247T>G (p.Leu8416Arg)

Number of alleles fetched