Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152140055G>ACA452969886SYNE1c.1887C>T (p.Ser629=)
c.25353C>T (p.Ser8451=)
c.25209C>T (p.Ser8403=)
c.755C>T
c.1088C>T
c.997C>T
c.1125C>T (p.Ser375=)
c.24138C>T (p.Ser8046=)
n.2101C>T
c.4188C>T (p.Ser1396=)
n.9045C>T
c.3291C>T (p.Ser1097=)
n.8937C>T
n.1967C>T
n.4375C>T
n.2190C>T
c.1818C>T (p.Ser606=)
c.25458C>T (p.Ser8486=)
c.25446C>T (p.Ser8482=)
c.25437C>T (p.Ser8479=)
c.25407C>T (p.Ser8469=)
c.25443C>T (p.Ser8481=)
c.25389C>T (p.Ser8463=)
c.25386C>T (p.Ser8462=)
c.25374C>T (p.Ser8458=)
c.25317C>T (p.Ser8439=)
c.25305C>T (p.Ser8435=)
c.25302C>T (p.Ser8434=)
c.25299C>T (p.Ser8433=)
c.25455C>T (p.Ser8485=)
c.25293C>T (p.Ser8431=)
c.23733C>T (p.Ser7911=)
c.23226C>T (p.Ser7742=)
c.18693C>T (p.Ser6231=)
c.1959C>T (p.Ser653=)
c.25431C>T (p.Ser8477=)
c.25380C>T (p.Ser8460=)
c.25233C>T (p.Ser8411=)
6g.152140055G>CCA366080372SYNE1c.1887C>G (p.Ser629Arg)
c.25353C>G (p.Ser8451Arg)
c.25209C>G (p.Ser8403Arg)
c.755C>G
c.1088C>G
c.997C>G
c.1125C>G (p.Ser375Arg)
c.24138C>G (p.Ser8046Arg)
n.2101C>G
c.4188C>G (p.Ser1396Arg)
n.9045C>G
c.3291C>G (p.Ser1097Arg)
n.8937C>G
n.1967C>G
n.4375C>G
n.2190C>G
c.1818C>G (p.Ser606Arg)
c.25458C>G (p.Ser8486Arg)
c.25446C>G (p.Ser8482Arg)
c.25437C>G (p.Ser8479Arg)
c.25407C>G (p.Ser8469Arg)
c.25443C>G (p.Ser8481Arg)
c.25389C>G (p.Ser8463Arg)
c.25386C>G (p.Ser8462Arg)
c.25374C>G (p.Ser8458Arg)
c.25317C>G (p.Ser8439Arg)
c.25305C>G (p.Ser8435Arg)
c.25302C>G (p.Ser8434Arg)
c.25299C>G (p.Ser8433Arg)
c.25455C>G (p.Ser8485Arg)
c.25293C>G (p.Ser8431Arg)
c.23733C>G (p.Ser7911Arg)
c.23226C>G (p.Ser7742Arg)
c.18693C>G (p.Ser6231Arg)
c.1959C>G (p.Ser653Arg)
c.25431C>G (p.Ser8477Arg)
c.25380C>G (p.Ser8460Arg)
c.25233C>G (p.Ser8411Arg)
6g.152140055G>TCA366080373SYNE1c.1887C>A (p.Ser629Arg)
c.25353C>A (p.Ser8451Arg)
c.25209C>A (p.Ser8403Arg)
c.755C>A
c.1088C>A
c.997C>A
c.1125C>A (p.Ser375Arg)
c.24138C>A (p.Ser8046Arg)
n.2101C>A
c.4188C>A (p.Ser1396Arg)
n.9045C>A
c.3291C>A (p.Ser1097Arg)
n.8937C>A
n.1967C>A
n.4375C>A
n.2190C>A
c.1818C>A (p.Ser606Arg)
c.25458C>A (p.Ser8486Arg)
c.25446C>A (p.Ser8482Arg)
c.25437C>A (p.Ser8479Arg)
c.25407C>A (p.Ser8469Arg)
c.25443C>A (p.Ser8481Arg)
c.25389C>A (p.Ser8463Arg)
c.25386C>A (p.Ser8462Arg)
c.25374C>A (p.Ser8458Arg)
c.25317C>A (p.Ser8439Arg)
c.25305C>A (p.Ser8435Arg)
c.25302C>A (p.Ser8434Arg)
c.25299C>A (p.Ser8433Arg)
c.25455C>A (p.Ser8485Arg)
c.25293C>A (p.Ser8431Arg)
c.23733C>A (p.Ser7911Arg)
c.23226C>A (p.Ser7742Arg)
c.18693C>A (p.Ser6231Arg)
c.1959C>A (p.Ser653Arg)
c.25431C>A (p.Ser8477Arg)
c.25380C>A (p.Ser8460Arg)
c.25233C>A (p.Ser8411Arg)
6g.152140056C>ACA366080374SYNE1c.1886G>T (p.Ser629Ile)
c.25352G>T (p.Ser8451Ile)
c.25208G>T (p.Ser8403Ile)
c.754G>T
c.1087G>T
c.996G>T
c.1124G>T (p.Ser375Ile)
c.24137G>T (p.Ser8046Ile)
n.2100G>T
c.4187G>T (p.Ser1396Ile)
n.9044G>T
c.3290G>T (p.Ser1097Ile)
n.8936G>T
n.1966G>T
n.4374G>T
n.2189G>T
c.1817G>T (p.Ser606Ile)
c.25457G>T (p.Ser8486Ile)
c.25445G>T (p.Ser8482Ile)
c.25436G>T (p.Ser8479Ile)
c.25406G>T (p.Ser8469Ile)
c.25442G>T (p.Ser8481Ile)
c.25388G>T (p.Ser8463Ile)
c.25385G>T (p.Ser8462Ile)
c.25373G>T (p.Ser8458Ile)
c.25316G>T (p.Ser8439Ile)
c.25304G>T (p.Ser8435Ile)
c.25301G>T (p.Ser8434Ile)
c.25298G>T (p.Ser8433Ile)
c.25454G>T (p.Ser8485Ile)
c.25292G>T (p.Ser8431Ile)
c.23732G>T (p.Ser7911Ile)
c.23225G>T (p.Ser7742Ile)
c.18692G>T (p.Ser6231Ile)
c.1958G>T (p.Ser653Ile)
c.25430G>T (p.Ser8477Ile)
c.25379G>T (p.Ser8460Ile)
c.25232G>T (p.Ser8411Ile)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140056C>GCA366080375SYNE1c.1886G>C (p.Ser629Thr)
c.25352G>C (p.Ser8451Thr)
c.25208G>C (p.Ser8403Thr)
c.754G>C
c.1087G>C
c.996G>C
c.1124G>C (p.Ser375Thr)
c.24137G>C (p.Ser8046Thr)
n.2100G>C
c.4187G>C (p.Ser1396Thr)
n.9044G>C
c.3290G>C (p.Ser1097Thr)
n.8936G>C
n.1966G>C
n.4374G>C
n.2189G>C
c.1817G>C (p.Ser606Thr)
c.25457G>C (p.Ser8486Thr)
c.25445G>C (p.Ser8482Thr)
c.25436G>C (p.Ser8479Thr)
c.25406G>C (p.Ser8469Thr)
c.25442G>C (p.Ser8481Thr)
c.25388G>C (p.Ser8463Thr)
c.25385G>C (p.Ser8462Thr)
c.25373G>C (p.Ser8458Thr)
c.25316G>C (p.Ser8439Thr)
c.25304G>C (p.Ser8435Thr)
c.25301G>C (p.Ser8434Thr)
c.25298G>C (p.Ser8433Thr)
c.25454G>C (p.Ser8485Thr)
c.25292G>C (p.Ser8431Thr)
c.23732G>C (p.Ser7911Thr)
c.23225G>C (p.Ser7742Thr)
c.18692G>C (p.Ser6231Thr)
c.1958G>C (p.Ser653Thr)
c.25430G>C (p.Ser8477Thr)
c.25379G>C (p.Ser8460Thr)
c.25232G>C (p.Ser8411Thr)
6g.152140056C>TCA366080376SYNE1c.1886G>A (p.Ser629Asn)
c.25352G>A (p.Ser8451Asn)
c.25208G>A (p.Ser8403Asn)
c.754G>A
c.1087G>A
c.996G>A
c.1124G>A (p.Ser375Asn)
c.24137G>A (p.Ser8046Asn)
n.2100G>A
c.4187G>A (p.Ser1396Asn)
n.9044G>A
c.3290G>A (p.Ser1097Asn)
n.8936G>A
n.1966G>A
n.4374G>A
n.2189G>A
c.1817G>A (p.Ser606Asn)
c.25457G>A (p.Ser8486Asn)
c.25445G>A (p.Ser8482Asn)
c.25436G>A (p.Ser8479Asn)
c.25406G>A (p.Ser8469Asn)
c.25442G>A (p.Ser8481Asn)
c.25388G>A (p.Ser8463Asn)
c.25385G>A (p.Ser8462Asn)
c.25373G>A (p.Ser8458Asn)
c.25316G>A (p.Ser8439Asn)
c.25304G>A (p.Ser8435Asn)
c.25301G>A (p.Ser8434Asn)
c.25298G>A (p.Ser8433Asn)
c.25454G>A (p.Ser8485Asn)
c.25292G>A (p.Ser8431Asn)
c.23732G>A (p.Ser7911Asn)
c.23225G>A (p.Ser7742Asn)
c.18692G>A (p.Ser6231Asn)
c.1958G>A (p.Ser653Asn)
c.25430G>A (p.Ser8477Asn)
c.25379G>A (p.Ser8460Asn)
c.25232G>A (p.Ser8411Asn)
 gnomAD v4
6g.152140057T>ACA366080378SYNE1c.1885A>T (p.Ser629Cys)
c.25351A>T (p.Ser8451Cys)
c.25207A>T (p.Ser8403Cys)
c.753A>T
c.1086A>T
c.995A>T
c.1123A>T (p.Ser375Cys)
c.24136A>T (p.Ser8046Cys)
n.2099A>T
c.4186A>T (p.Ser1396Cys)
n.9043A>T
c.3289A>T (p.Ser1097Cys)
n.8935A>T
n.1965A>T
n.4373A>T
n.2188A>T
c.1816A>T (p.Ser606Cys)
c.25456A>T (p.Ser8486Cys)
c.25444A>T (p.Ser8482Cys)
c.25435A>T (p.Ser8479Cys)
c.25405A>T (p.Ser8469Cys)
c.25441A>T (p.Ser8481Cys)
c.25387A>T (p.Ser8463Cys)
c.25384A>T (p.Ser8462Cys)
c.25372A>T (p.Ser8458Cys)
c.25315A>T (p.Ser8439Cys)
c.25303A>T (p.Ser8435Cys)
c.25300A>T (p.Ser8434Cys)
c.25297A>T (p.Ser8433Cys)
c.25453A>T (p.Ser8485Cys)
c.25291A>T (p.Ser8431Cys)
c.23731A>T (p.Ser7911Cys)
c.23224A>T (p.Ser7742Cys)
c.18691A>T (p.Ser6231Cys)
c.1957A>T (p.Ser653Cys)
c.25429A>T (p.Ser8477Cys)
c.25378A>T (p.Ser8460Cys)
c.25231A>T (p.Ser8411Cys)
6g.152140057T>CCA150165570SYNE1c.1885A>G (p.Ser629Gly)
c.25351A>G (p.Ser8451Gly)
c.25207A>G (p.Ser8403Gly)
c.753A>G
c.1086A>G
c.995A>G
c.1123A>G (p.Ser375Gly)
c.24136A>G (p.Ser8046Gly)
n.2099A>G
c.4186A>G (p.Ser1396Gly)
n.9043A>G
c.3289A>G (p.Ser1097Gly)
n.8935A>G
n.1965A>G
n.4373A>G
n.2188A>G
c.1816A>G (p.Ser606Gly)
c.25456A>G (p.Ser8486Gly)
c.25444A>G (p.Ser8482Gly)
c.25435A>G (p.Ser8479Gly)
c.25405A>G (p.Ser8469Gly)
c.25441A>G (p.Ser8481Gly)
c.25387A>G (p.Ser8463Gly)
c.25384A>G (p.Ser8462Gly)
c.25372A>G (p.Ser8458Gly)
c.25315A>G (p.Ser8439Gly)
c.25303A>G (p.Ser8435Gly)
c.25300A>G (p.Ser8434Gly)
c.25297A>G (p.Ser8433Gly)
c.25453A>G (p.Ser8485Gly)
c.25291A>G (p.Ser8431Gly)
c.23731A>G (p.Ser7911Gly)
c.23224A>G (p.Ser7742Gly)
c.18691A>G (p.Ser6231Gly)
c.1957A>G (p.Ser653Gly)
c.25429A>G (p.Ser8477Gly)
c.25378A>G (p.Ser8460Gly)
c.25231A>G (p.Ser8411Gly)
 dbSNP gnomAD v4
6g.152140057T>GCA366080377SYNE1c.1885A>C (p.Ser629Arg)
c.25351A>C (p.Ser8451Arg)
c.25207A>C (p.Ser8403Arg)
c.753A>C
c.1086A>C
c.995A>C
c.1123A>C (p.Ser375Arg)
c.24136A>C (p.Ser8046Arg)
n.2099A>C
c.4186A>C (p.Ser1396Arg)
n.9043A>C
c.3289A>C (p.Ser1097Arg)
n.8935A>C
n.1965A>C
n.4373A>C
n.2188A>C
c.1816A>C (p.Ser606Arg)
c.25456A>C (p.Ser8486Arg)
c.25444A>C (p.Ser8482Arg)
c.25435A>C (p.Ser8479Arg)
c.25405A>C (p.Ser8469Arg)
c.25441A>C (p.Ser8481Arg)
c.25387A>C (p.Ser8463Arg)
c.25384A>C (p.Ser8462Arg)
c.25372A>C (p.Ser8458Arg)
c.25315A>C (p.Ser8439Arg)
c.25303A>C (p.Ser8435Arg)
c.25300A>C (p.Ser8434Arg)
c.25297A>C (p.Ser8433Arg)
c.25453A>C (p.Ser8485Arg)
c.25291A>C (p.Ser8431Arg)
c.23731A>C (p.Ser7911Arg)
c.23224A>C (p.Ser7742Arg)
c.18691A>C (p.Ser6231Arg)
c.1957A>C (p.Ser653Arg)
c.25429A>C (p.Ser8477Arg)
c.25378A>C (p.Ser8460Arg)
c.25231A>C (p.Ser8411Arg)
6g.152140057T=CA1673206308SYNE1c.1885A= (p.Ser629=)
c.25351A= (p.Ser8451=)
c.25207A= (p.Ser8403=)
c.753A=
c.1086A=
c.995A=
c.1123A= (p.Ser375=)
c.24136A= (p.Ser8046=)
n.2099A=
c.4186A= (p.Ser1396=)
n.9043A=
c.3289A= (p.Ser1097=)
n.8935A=
n.1965A=
n.4373A=
n.2188A=
c.1816A= (p.Ser606=)
c.25456A= (p.Ser8486=)
c.25444A= (p.Ser8482=)
c.25435A= (p.Ser8479=)
c.25405A= (p.Ser8469=)
c.25441A= (p.Ser8481=)
c.25387A= (p.Ser8463=)
c.25384A= (p.Ser8462=)
c.25372A= (p.Ser8458=)
c.25315A= (p.Ser8439=)
c.25303A= (p.Ser8435=)
c.25300A= (p.Ser8434=)
c.25297A= (p.Ser8433=)
c.25453A= (p.Ser8485=)
c.25291A= (p.Ser8431=)
c.23731A= (p.Ser7911=)
c.23224A= (p.Ser7742=)
c.18691A= (p.Ser6231=)
c.1957A= (p.Ser653=)
c.25429A= (p.Ser8477=)
c.25378A= (p.Ser8460=)
c.25231A= (p.Ser8411=)
6g.152140058G>ACA452969888SYNE1c.1884C>T (p.Asn628=)
c.25350C>T (p.Asn8450=)
c.25206C>T (p.Asn8402=)
c.752C>T
c.1085C>T
c.994C>T
c.1122C>T (p.Asn374=)
c.24135C>T (p.Asn8045=)
n.2098C>T
c.4185C>T (p.Asn1395=)
n.9042C>T
c.3288C>T (p.Asn1096=)
n.8934C>T
n.1964C>T
n.4372C>T
n.2187C>T
c.1815C>T (p.Asn605=)
c.25455C>T (p.Asn8485=)
c.25443C>T (p.Asn8481=)
c.25434C>T (p.Asn8478=)
c.25404C>T (p.Asn8468=)
c.25440C>T (p.Asn8480=)
c.25386C>T (p.Asn8462=)
c.25383C>T (p.Asn8461=)
c.25371C>T (p.Asn8457=)
c.25314C>T (p.Asn8438=)
c.25302C>T (p.Asn8434=)
c.25299C>T (p.Asn8433=)
c.25296C>T (p.Asn8432=)
c.25452C>T (p.Asn8484=)
c.25290C>T (p.Asn8430=)
c.23730C>T (p.Asn7910=)
c.23223C>T (p.Asn7741=)
c.18690C>T (p.Asn6230=)
c.1956C>T (p.Asn652=)
c.25428C>T (p.Asn8476=)
c.25377C>T (p.Asn8459=)
c.25230C>T (p.Asn8410=)
6g.152140058G>CCA366080379SYNE1c.1884C>G (p.Asn628Lys)
c.25350C>G (p.Asn8450Lys)
c.25206C>G (p.Asn8402Lys)
c.752C>G
c.1085C>G
c.994C>G
c.1122C>G (p.Asn374Lys)
c.24135C>G (p.Asn8045Lys)
n.2098C>G
c.4185C>G (p.Asn1395Lys)
n.9042C>G
c.3288C>G (p.Asn1096Lys)
n.8934C>G
n.1964C>G
n.4372C>G
n.2187C>G
c.1815C>G (p.Asn605Lys)
c.25455C>G (p.Asn8485Lys)
c.25443C>G (p.Asn8481Lys)
c.25434C>G (p.Asn8478Lys)
c.25404C>G (p.Asn8468Lys)
c.25440C>G (p.Asn8480Lys)
c.25386C>G (p.Asn8462Lys)
c.25383C>G (p.Asn8461Lys)
c.25371C>G (p.Asn8457Lys)
c.25314C>G (p.Asn8438Lys)
c.25302C>G (p.Asn8434Lys)
c.25299C>G (p.Asn8433Lys)
c.25296C>G (p.Asn8432Lys)
c.25452C>G (p.Asn8484Lys)
c.25290C>G (p.Asn8430Lys)
c.23730C>G (p.Asn7910Lys)
c.23223C>G (p.Asn7741Lys)
c.18690C>G (p.Asn6230Lys)
c.1956C>G (p.Asn652Lys)
c.25428C>G (p.Asn8476Lys)
c.25377C>G (p.Asn8459Lys)
c.25230C>G (p.Asn8410Lys)
6g.152140058G>TCA366080380SYNE1c.1884C>A (p.Asn628Lys)
c.25350C>A (p.Asn8450Lys)
c.25206C>A (p.Asn8402Lys)
c.752C>A
c.1085C>A
c.994C>A
c.1122C>A (p.Asn374Lys)
c.24135C>A (p.Asn8045Lys)
n.2098C>A
c.4185C>A (p.Asn1395Lys)
n.9042C>A
c.3288C>A (p.Asn1096Lys)
n.8934C>A
n.1964C>A
n.4372C>A
n.2187C>A
c.1815C>A (p.Asn605Lys)
c.25455C>A (p.Asn8485Lys)
c.25443C>A (p.Asn8481Lys)
c.25434C>A (p.Asn8478Lys)
c.25404C>A (p.Asn8468Lys)
c.25440C>A (p.Asn8480Lys)
c.25386C>A (p.Asn8462Lys)
c.25383C>A (p.Asn8461Lys)
c.25371C>A (p.Asn8457Lys)
c.25314C>A (p.Asn8438Lys)
c.25302C>A (p.Asn8434Lys)
c.25299C>A (p.Asn8433Lys)
c.25296C>A (p.Asn8432Lys)
c.25452C>A (p.Asn8484Lys)
c.25290C>A (p.Asn8430Lys)
c.23730C>A (p.Asn7910Lys)
c.23223C>A (p.Asn7741Lys)
c.18690C>A (p.Asn6230Lys)
c.1956C>A (p.Asn652Lys)
c.25428C>A (p.Asn8476Lys)
c.25377C>A (p.Asn8459Lys)
c.25230C>A (p.Asn8410Lys)
6g.152140059T>ACA366080383SYNE1c.1883A>T (p.Asn628Ile)
c.25349A>T (p.Asn8450Ile)
c.25205A>T (p.Asn8402Ile)
c.751A>T
c.1084A>T
c.993A>T
c.1121A>T (p.Asn374Ile)
c.24134A>T (p.Asn8045Ile)
n.2097A>T
c.4184A>T (p.Asn1395Ile)
n.9041A>T
c.3287A>T (p.Asn1096Ile)
n.8933A>T
n.1963A>T
n.4371A>T
n.2186A>T
c.1814A>T (p.Asn605Ile)
c.25454A>T (p.Asn8485Ile)
c.25442A>T (p.Asn8481Ile)
c.25433A>T (p.Asn8478Ile)
c.25403A>T (p.Asn8468Ile)
c.25439A>T (p.Asn8480Ile)
c.25385A>T (p.Asn8462Ile)
c.25382A>T (p.Asn8461Ile)
c.25370A>T (p.Asn8457Ile)
c.25313A>T (p.Asn8438Ile)
c.25301A>T (p.Asn8434Ile)
c.25298A>T (p.Asn8433Ile)
c.25295A>T (p.Asn8432Ile)
c.25451A>T (p.Asn8484Ile)
c.25289A>T (p.Asn8430Ile)
c.23729A>T (p.Asn7910Ile)
c.23222A>T (p.Asn7741Ile)
c.18689A>T (p.Asn6230Ile)
c.1955A>T (p.Asn652Ile)
c.25427A>T (p.Asn8476Ile)
c.25376A>T (p.Asn8459Ile)
c.25229A>T (p.Asn8410Ile)
6g.152140059T>CCA4052864SYNE1c.1883A>G (p.Asn628Ser)
c.25349A>G (p.Asn8450Ser)
c.25205A>G (p.Asn8402Ser)
c.751A>G
c.1084A>G
c.993A>G
c.1121A>G (p.Asn374Ser)
c.24134A>G (p.Asn8045Ser)
n.2097A>G
c.4184A>G (p.Asn1395Ser)
n.9041A>G
c.3287A>G (p.Asn1096Ser)
n.8933A>G
n.1963A>G
n.4371A>G
n.2186A>G
c.1814A>G (p.Asn605Ser)
c.25454A>G (p.Asn8485Ser)
c.25442A>G (p.Asn8481Ser)
c.25433A>G (p.Asn8478Ser)
c.25403A>G (p.Asn8468Ser)
c.25439A>G (p.Asn8480Ser)
c.25385A>G (p.Asn8462Ser)
c.25382A>G (p.Asn8461Ser)
c.25370A>G (p.Asn8457Ser)
c.25313A>G (p.Asn8438Ser)
c.25301A>G (p.Asn8434Ser)
c.25298A>G (p.Asn8433Ser)
c.25295A>G (p.Asn8432Ser)
c.25451A>G (p.Asn8484Ser)
c.25289A>G (p.Asn8430Ser)
c.23729A>G (p.Asn7910Ser)
c.23222A>G (p.Asn7741Ser)
c.18689A>G (p.Asn6230Ser)
c.1955A>G (p.Asn652Ser)
c.25427A>G (p.Asn8476Ser)
c.25376A>G (p.Asn8459Ser)
c.25229A>G (p.Asn8410Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140059T>GCA366080387SYNE1c.1883A>C (p.Asn628Thr)
c.25349A>C (p.Asn8450Thr)
c.25205A>C (p.Asn8402Thr)
c.751A>C
c.1084A>C
c.993A>C
c.1121A>C (p.Asn374Thr)
c.24134A>C (p.Asn8045Thr)
n.2097A>C
c.4184A>C (p.Asn1395Thr)
n.9041A>C
c.3287A>C (p.Asn1096Thr)
n.8933A>C
n.1963A>C
n.4371A>C
n.2186A>C
c.1814A>C (p.Asn605Thr)
c.25454A>C (p.Asn8485Thr)
c.25442A>C (p.Asn8481Thr)
c.25433A>C (p.Asn8478Thr)
c.25403A>C (p.Asn8468Thr)
c.25439A>C (p.Asn8480Thr)
c.25385A>C (p.Asn8462Thr)
c.25382A>C (p.Asn8461Thr)
c.25370A>C (p.Asn8457Thr)
c.25313A>C (p.Asn8438Thr)
c.25301A>C (p.Asn8434Thr)
c.25298A>C (p.Asn8433Thr)
c.25295A>C (p.Asn8432Thr)
c.25451A>C (p.Asn8484Thr)
c.25289A>C (p.Asn8430Thr)
c.23729A>C (p.Asn7910Thr)
c.23222A>C (p.Asn7741Thr)
c.18689A>C (p.Asn6230Thr)
c.1955A>C (p.Asn652Thr)
c.25427A>C (p.Asn8476Thr)
c.25376A>C (p.Asn8459Thr)
c.25229A>C (p.Asn8410Thr)
6g.152140059T=CA1673206311SYNE1c.1883A= (p.Asn628=)
c.25349A= (p.Asn8450=)
c.25205A= (p.Asn8402=)
c.751A=
c.1084A=
c.993A=
c.1121A= (p.Asn374=)
c.24134A= (p.Asn8045=)
n.2097A=
c.4184A= (p.Asn1395=)
n.9041A=
c.3287A= (p.Asn1096=)
n.8933A=
n.1963A=
n.4371A=
n.2186A=
c.1814A= (p.Asn605=)
c.25454A= (p.Asn8485=)
c.25442A= (p.Asn8481=)
c.25433A= (p.Asn8478=)
c.25403A= (p.Asn8468=)
c.25439A= (p.Asn8480=)
c.25385A= (p.Asn8462=)
c.25382A= (p.Asn8461=)
c.25370A= (p.Asn8457=)
c.25313A= (p.Asn8438=)
c.25301A= (p.Asn8434=)
c.25298A= (p.Asn8433=)
c.25295A= (p.Asn8432=)
c.25451A= (p.Asn8484=)
c.25289A= (p.Asn8430=)
c.23729A= (p.Asn7910=)
c.23222A= (p.Asn7741=)
c.18689A= (p.Asn6230=)
c.1955A= (p.Asn652=)
c.25427A= (p.Asn8476=)
c.25376A= (p.Asn8459=)
c.25229A= (p.Asn8410=)
6g.152140060T>ACA366080390SYNE1c.1882A>T (p.Asn628Tyr)
c.25348A>T (p.Asn8450Tyr)
c.25204A>T (p.Asn8402Tyr)
c.750A>T
c.1083A>T
c.992A>T
c.1120A>T (p.Asn374Tyr)
c.24133A>T (p.Asn8045Tyr)
n.2096A>T
c.4183A>T (p.Asn1395Tyr)
n.9040A>T
c.3286A>T (p.Asn1096Tyr)
n.8932A>T
n.1962A>T
n.4370A>T
n.2185A>T
c.1813A>T (p.Asn605Tyr)
c.25453A>T (p.Asn8485Tyr)
c.25441A>T (p.Asn8481Tyr)
c.25432A>T (p.Asn8478Tyr)
c.25402A>T (p.Asn8468Tyr)
c.25438A>T (p.Asn8480Tyr)
c.25384A>T (p.Asn8462Tyr)
c.25381A>T (p.Asn8461Tyr)
c.25369A>T (p.Asn8457Tyr)
c.25312A>T (p.Asn8438Tyr)
c.25300A>T (p.Asn8434Tyr)
c.25297A>T (p.Asn8433Tyr)
c.25294A>T (p.Asn8432Tyr)
c.25450A>T (p.Asn8484Tyr)
c.25288A>T (p.Asn8430Tyr)
c.23728A>T (p.Asn7910Tyr)
c.23221A>T (p.Asn7741Tyr)
c.18688A>T (p.Asn6230Tyr)
c.1954A>T (p.Asn652Tyr)
c.25426A>T (p.Asn8476Tyr)
c.25375A>T (p.Asn8459Tyr)
c.25228A>T (p.Asn8410Tyr)
6g.152140060T>CCA366080394SYNE1c.1882A>G (p.Asn628Asp)
c.25348A>G (p.Asn8450Asp)
c.25204A>G (p.Asn8402Asp)
c.750A>G
c.1083A>G
c.992A>G
c.1120A>G (p.Asn374Asp)
c.24133A>G (p.Asn8045Asp)
n.2096A>G
c.4183A>G (p.Asn1395Asp)
n.9040A>G
c.3286A>G (p.Asn1096Asp)
n.8932A>G
n.1962A>G
n.4370A>G
n.2185A>G
c.1813A>G (p.Asn605Asp)
c.25453A>G (p.Asn8485Asp)
c.25441A>G (p.Asn8481Asp)
c.25432A>G (p.Asn8478Asp)
c.25402A>G (p.Asn8468Asp)
c.25438A>G (p.Asn8480Asp)
c.25384A>G (p.Asn8462Asp)
c.25381A>G (p.Asn8461Asp)
c.25369A>G (p.Asn8457Asp)
c.25312A>G (p.Asn8438Asp)
c.25300A>G (p.Asn8434Asp)
c.25297A>G (p.Asn8433Asp)
c.25294A>G (p.Asn8432Asp)
c.25450A>G (p.Asn8484Asp)
c.25288A>G (p.Asn8430Asp)
c.23728A>G (p.Asn7910Asp)
c.23221A>G (p.Asn7741Asp)
c.18688A>G (p.Asn6230Asp)
c.1954A>G (p.Asn652Asp)
c.25426A>G (p.Asn8476Asp)
c.25375A>G (p.Asn8459Asp)
c.25228A>G (p.Asn8410Asp)
6g.152140060T>GCA366080393SYNE1c.1882A>C (p.Asn628His)
c.25348A>C (p.Asn8450His)
c.25204A>C (p.Asn8402His)
c.750A>C
c.1083A>C
c.992A>C
c.1120A>C (p.Asn374His)
c.24133A>C (p.Asn8045His)
n.2096A>C
c.4183A>C (p.Asn1395His)
n.9040A>C
c.3286A>C (p.Asn1096His)
n.8932A>C
n.1962A>C
n.4370A>C
n.2185A>C
c.1813A>C (p.Asn605His)
c.25453A>C (p.Asn8485His)
c.25441A>C (p.Asn8481His)
c.25432A>C (p.Asn8478His)
c.25402A>C (p.Asn8468His)
c.25438A>C (p.Asn8480His)
c.25384A>C (p.Asn8462His)
c.25381A>C (p.Asn8461His)
c.25369A>C (p.Asn8457His)
c.25312A>C (p.Asn8438His)
c.25300A>C (p.Asn8434His)
c.25297A>C (p.Asn8433His)
c.25294A>C (p.Asn8432His)
c.25450A>C (p.Asn8484His)
c.25288A>C (p.Asn8430His)
c.23728A>C (p.Asn7910His)
c.23221A>C (p.Asn7741His)
c.18688A>C (p.Asn6230His)
c.1954A>C (p.Asn652His)
c.25426A>C (p.Asn8476His)
c.25375A>C (p.Asn8459His)
c.25228A>C (p.Asn8410His)
6g.152140062_152140066delCA2680812231SYNE1c.1878_1882del (p.Asp626GlufsTer25)
c.25344_25348del (p.Asp8448GlufsTer25)
c.25200_25204del (p.Asp8400GlufsTer25)
c.746_750del
c.1079_1083del
c.988_992del
c.1116_1120del (p.Asp372GlufsTer25)
c.24129_24133del (p.Asp8043GlufsTer25)
n.2092_2096del
c.4179_4183del (p.Asp1393GlufsTer25)
n.9036_9040del
c.3282_3286del (p.Asp1094GlufsTer25)
n.8928_8932del
n.1958_1962del
n.4366_4370del
n.2181_2185del
c.1809_1813del (p.Asp603GlufsTer25)
c.25449_25453del (p.Asp8483GlufsTer25)
c.25437_25441del (p.Asp8479GlufsTer25)
c.25428_25432del (p.Asp8476GlufsTer25)
c.25398_25402del (p.Asp8466GlufsTer25)
c.25434_25438del (p.Asp8478GlufsTer25)
c.25380_25384del (p.Asp8460GlufsTer25)
c.25377_25381del (p.Asp8459GlufsTer25)
c.25365_25369del (p.Asp8455GlufsTer25)
c.25308_25312del (p.Asp8436GlufsTer25)
c.25296_25300del (p.Asp8432GlufsTer25)
c.25293_25297del (p.Asp8431GlufsTer25)
c.25290_25294del (p.Asp8430GlufsTer25)
c.25446_25450del (p.Asp8482GlufsTer25)
c.25284_25288del (p.Asp8428GlufsTer25)
c.23724_23728del (p.Asp7908GlufsTer25)
c.23217_23221del (p.Asp7739GlufsTer25)
c.18684_18688del (p.Asp6228GlufsTer25)
c.1950_1954del (p.Asp650GlufsTer25)
c.25422_25426del (p.Asp8474GlufsTer25)
c.25371_25375del (p.Asp8457GlufsTer25)
c.25224_25228del (p.Asp8408GlufsTer25)
 gnomAD v4
6g.152140061C>ACA366080399SYNE1c.1881G>T (p.Leu627Phe)
c.25347G>T (p.Leu8449Phe)
c.25203G>T (p.Leu8401Phe)
c.749G>T
c.1082G>T
c.991G>T
c.1119G>T (p.Leu373Phe)
c.24132G>T (p.Leu8044Phe)
n.2095G>T
c.4182G>T (p.Leu1394Phe)
n.9039G>T
c.3285G>T (p.Leu1095Phe)
n.8931G>T
n.1961G>T
n.4369G>T
n.2184G>T
c.1812G>T (p.Leu604Phe)
c.25452G>T (p.Leu8484Phe)
c.25440G>T (p.Leu8480Phe)
c.25431G>T (p.Leu8477Phe)
c.25401G>T (p.Leu8467Phe)
c.25437G>T (p.Leu8479Phe)
c.25383G>T (p.Leu8461Phe)
c.25380G>T (p.Leu8460Phe)
c.25368G>T (p.Leu8456Phe)
c.25311G>T (p.Leu8437Phe)
c.25299G>T (p.Leu8433Phe)
c.25296G>T (p.Leu8432Phe)
c.25293G>T (p.Leu8431Phe)
c.25449G>T (p.Leu8483Phe)
c.25287G>T (p.Leu8429Phe)
c.23727G>T (p.Leu7909Phe)
c.23220G>T (p.Leu7740Phe)
c.18687G>T (p.Leu6229Phe)
c.1953G>T (p.Leu651Phe)
c.25425G>T (p.Leu8475Phe)
c.25374G>T (p.Leu8458Phe)
c.25227G>T (p.Leu8409Phe)
6g.152140061C=CA1673206316SYNE1c.1881G= (p.Leu627=)
c.25347G= (p.Leu8449=)
c.25203G= (p.Leu8401=)
c.749G=
c.1082G=
c.991G=
c.1119G= (p.Leu373=)
c.24132G= (p.Leu8044=)
n.2095G=
c.4182G= (p.Leu1394=)
n.9039G=
c.3285G= (p.Leu1095=)
n.8931G=
n.1961G=
n.4369G=
n.2184G=
c.1812G= (p.Leu604=)
c.25452G= (p.Leu8484=)
c.25440G= (p.Leu8480=)
c.25431G= (p.Leu8477=)
c.25401G= (p.Leu8467=)
c.25437G= (p.Leu8479=)
c.25383G= (p.Leu8461=)
c.25380G= (p.Leu8460=)
c.25368G= (p.Leu8456=)
c.25311G= (p.Leu8437=)
c.25299G= (p.Leu8433=)
c.25296G= (p.Leu8432=)
c.25293G= (p.Leu8431=)
c.25449G= (p.Leu8483=)
c.25287G= (p.Leu8429=)
c.23727G= (p.Leu7909=)
c.23220G= (p.Leu7740=)
c.18687G= (p.Leu6229=)
c.1953G= (p.Leu651=)
c.25425G= (p.Leu8475=)
c.25374G= (p.Leu8458=)
c.25227G= (p.Leu8409=)
6g.152140061C>GCA366080401SYNE1c.1881G>C (p.Leu627Phe)
c.25347G>C (p.Leu8449Phe)
c.25203G>C (p.Leu8401Phe)
c.749G>C
c.1082G>C
c.991G>C
c.1119G>C (p.Leu373Phe)
c.24132G>C (p.Leu8044Phe)
n.2095G>C
c.4182G>C (p.Leu1394Phe)
n.9039G>C
c.3285G>C (p.Leu1095Phe)
n.8931G>C
n.1961G>C
n.4369G>C
n.2184G>C
c.1812G>C (p.Leu604Phe)
c.25452G>C (p.Leu8484Phe)
c.25440G>C (p.Leu8480Phe)
c.25431G>C (p.Leu8477Phe)
c.25401G>C (p.Leu8467Phe)
c.25437G>C (p.Leu8479Phe)
c.25383G>C (p.Leu8461Phe)
c.25380G>C (p.Leu8460Phe)
c.25368G>C (p.Leu8456Phe)
c.25311G>C (p.Leu8437Phe)
c.25299G>C (p.Leu8433Phe)
c.25296G>C (p.Leu8432Phe)
c.25293G>C (p.Leu8431Phe)
c.25449G>C (p.Leu8483Phe)
c.25287G>C (p.Leu8429Phe)
c.23727G>C (p.Leu7909Phe)
c.23220G>C (p.Leu7740Phe)
c.18687G>C (p.Leu6229Phe)
c.1953G>C (p.Leu651Phe)
c.25425G>C (p.Leu8475Phe)
c.25374G>C (p.Leu8458Phe)
c.25227G>C (p.Leu8409Phe)
6g.152140061C>TCA452969892SYNE1c.1881G>A (p.Leu627=)
c.25347G>A (p.Leu8449=)
c.25203G>A (p.Leu8401=)
c.749G>A
c.1082G>A
c.991G>A
c.1119G>A (p.Leu373=)
c.24132G>A (p.Leu8044=)
n.2095G>A
c.4182G>A (p.Leu1394=)
n.9039G>A
c.3285G>A (p.Leu1095=)
n.8931G>A
n.1961G>A
n.4369G>A
n.2184G>A
c.1812G>A (p.Leu604=)
c.25452G>A (p.Leu8484=)
c.25440G>A (p.Leu8480=)
c.25431G>A (p.Leu8477=)
c.25401G>A (p.Leu8467=)
c.25437G>A (p.Leu8479=)
c.25383G>A (p.Leu8461=)
c.25380G>A (p.Leu8460=)
c.25368G>A (p.Leu8456=)
c.25311G>A (p.Leu8437=)
c.25299G>A (p.Leu8433=)
c.25296G>A (p.Leu8432=)
c.25293G>A (p.Leu8431=)
c.25449G>A (p.Leu8483=)
c.25287G>A (p.Leu8429=)
c.23727G>A (p.Leu7909=)
c.23220G>A (p.Leu7740=)
c.18687G>A (p.Leu6229=)
c.1953G>A (p.Leu651=)
c.25425G>A (p.Leu8475=)
c.25374G>A (p.Leu8458=)
c.25227G>A (p.Leu8409=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152140062A>CCA366080404SYNE1c.1880T>G (p.Leu627Trp)
c.25346T>G (p.Leu8449Trp)
c.25202T>G (p.Leu8401Trp)
c.748T>G
c.1081T>G
c.990T>G
c.1118T>G (p.Leu373Trp)
c.24131T>G (p.Leu8044Trp)
n.2094T>G
c.4181T>G (p.Leu1394Trp)
n.9038T>G
c.3284T>G (p.Leu1095Trp)
n.8930T>G
n.1960T>G
n.4368T>G
n.2183T>G
c.1811T>G (p.Leu604Trp)
c.25451T>G (p.Leu8484Trp)
c.25439T>G (p.Leu8480Trp)
c.25430T>G (p.Leu8477Trp)
c.25400T>G (p.Leu8467Trp)
c.25436T>G (p.Leu8479Trp)
c.25382T>G (p.Leu8461Trp)
c.25379T>G (p.Leu8460Trp)
c.25367T>G (p.Leu8456Trp)
c.25310T>G (p.Leu8437Trp)
c.25298T>G (p.Leu8433Trp)
c.25295T>G (p.Leu8432Trp)
c.25292T>G (p.Leu8431Trp)
c.25448T>G (p.Leu8483Trp)
c.25286T>G (p.Leu8429Trp)
c.23726T>G (p.Leu7909Trp)
c.23219T>G (p.Leu7740Trp)
c.18686T>G (p.Leu6229Trp)
c.1952T>G (p.Leu651Trp)
c.25424T>G (p.Leu8475Trp)
c.25373T>G (p.Leu8458Trp)
c.25226T>G (p.Leu8409Trp)
6g.152140062A>GCA366080407SYNE1c.1880T>C (p.Leu627Ser)
c.25346T>C (p.Leu8449Ser)
c.25202T>C (p.Leu8401Ser)
c.748T>C
c.1081T>C
c.990T>C
c.1118T>C (p.Leu373Ser)
c.24131T>C (p.Leu8044Ser)
n.2094T>C
c.4181T>C (p.Leu1394Ser)
n.9038T>C
c.3284T>C (p.Leu1095Ser)
n.8930T>C
n.1960T>C
n.4368T>C
n.2183T>C
c.1811T>C (p.Leu604Ser)
c.25451T>C (p.Leu8484Ser)
c.25439T>C (p.Leu8480Ser)
c.25430T>C (p.Leu8477Ser)
c.25400T>C (p.Leu8467Ser)
c.25436T>C (p.Leu8479Ser)
c.25382T>C (p.Leu8461Ser)
c.25379T>C (p.Leu8460Ser)
c.25367T>C (p.Leu8456Ser)
c.25310T>C (p.Leu8437Ser)
c.25298T>C (p.Leu8433Ser)
c.25295T>C (p.Leu8432Ser)
c.25292T>C (p.Leu8431Ser)
c.25448T>C (p.Leu8483Ser)
c.25286T>C (p.Leu8429Ser)
c.23726T>C (p.Leu7909Ser)
c.23219T>C (p.Leu7740Ser)
c.18686T>C (p.Leu6229Ser)
c.1952T>C (p.Leu651Ser)
c.25424T>C (p.Leu8475Ser)
c.25373T>C (p.Leu8458Ser)
c.25226T>C (p.Leu8409Ser)
6g.152140062A>TCA366080409SYNE1c.1880T>A (p.Leu627Ter)
c.25346T>A (p.Leu8449Ter)
c.25202T>A (p.Leu8401Ter)
c.748T>A
c.1081T>A
c.990T>A
c.1118T>A (p.Leu373Ter)
c.24131T>A (p.Leu8044Ter)
n.2094T>A
c.4181T>A (p.Leu1394Ter)
n.9038T>A
c.3284T>A (p.Leu1095Ter)
n.8930T>A
n.1960T>A
n.4368T>A
n.2183T>A
c.1811T>A (p.Leu604Ter)
c.25451T>A (p.Leu8484Ter)
c.25439T>A (p.Leu8480Ter)
c.25430T>A (p.Leu8477Ter)
c.25400T>A (p.Leu8467Ter)
c.25436T>A (p.Leu8479Ter)
c.25382T>A (p.Leu8461Ter)
c.25379T>A (p.Leu8460Ter)
c.25367T>A (p.Leu8456Ter)
c.25310T>A (p.Leu8437Ter)
c.25298T>A (p.Leu8433Ter)
c.25295T>A (p.Leu8432Ter)
c.25292T>A (p.Leu8431Ter)
c.25448T>A (p.Leu8483Ter)
c.25286T>A (p.Leu8429Ter)
c.23726T>A (p.Leu7909Ter)
c.23219T>A (p.Leu7740Ter)
c.18686T>A (p.Leu6229Ter)
c.1952T>A (p.Leu651Ter)
c.25424T>A (p.Leu8475Ter)
c.25373T>A (p.Leu8458Ter)
c.25226T>A (p.Leu8409Ter)
6g.152140063A>CCA366080411SYNE1c.1879T>G (p.Leu627Val)
c.25345T>G (p.Leu8449Val)
c.25201T>G (p.Leu8401Val)
c.747T>G
c.1080T>G
c.989T>G
c.1117T>G (p.Leu373Val)
c.24130T>G (p.Leu8044Val)
n.2093T>G
c.4180T>G (p.Leu1394Val)
n.9037T>G
c.3283T>G (p.Leu1095Val)
n.8929T>G
n.1959T>G
n.4367T>G
n.2182T>G
c.1810T>G (p.Leu604Val)
c.25450T>G (p.Leu8484Val)
c.25438T>G (p.Leu8480Val)
c.25429T>G (p.Leu8477Val)
c.25399T>G (p.Leu8467Val)
c.25435T>G (p.Leu8479Val)
c.25381T>G (p.Leu8461Val)
c.25378T>G (p.Leu8460Val)
c.25366T>G (p.Leu8456Val)
c.25309T>G (p.Leu8437Val)
c.25297T>G (p.Leu8433Val)
c.25294T>G (p.Leu8432Val)
c.25291T>G (p.Leu8431Val)
c.25447T>G (p.Leu8483Val)
c.25285T>G (p.Leu8429Val)
c.23725T>G (p.Leu7909Val)
c.23218T>G (p.Leu7740Val)
c.18685T>G (p.Leu6229Val)
c.1951T>G (p.Leu651Val)
c.25423T>G (p.Leu8475Val)
c.25372T>G (p.Leu8458Val)
c.25225T>G (p.Leu8409Val)
6g.152140063A>GCA452969894SYNE1c.1879T>C (p.Leu627=)
c.25345T>C (p.Leu8449=)
c.25201T>C (p.Leu8401=)
c.747T>C
c.1080T>C
c.989T>C
c.1117T>C (p.Leu373=)
c.24130T>C (p.Leu8044=)
n.2093T>C
c.4180T>C (p.Leu1394=)
n.9037T>C
c.3283T>C (p.Leu1095=)
n.8929T>C
n.1959T>C
n.4367T>C
n.2182T>C
c.1810T>C (p.Leu604=)
c.25450T>C (p.Leu8484=)
c.25438T>C (p.Leu8480=)
c.25429T>C (p.Leu8477=)
c.25399T>C (p.Leu8467=)
c.25435T>C (p.Leu8479=)
c.25381T>C (p.Leu8461=)
c.25378T>C (p.Leu8460=)
c.25366T>C (p.Leu8456=)
c.25309T>C (p.Leu8437=)
c.25297T>C (p.Leu8433=)
c.25294T>C (p.Leu8432=)
c.25291T>C (p.Leu8431=)
c.25447T>C (p.Leu8483=)
c.25285T>C (p.Leu8429=)
c.23725T>C (p.Leu7909=)
c.23218T>C (p.Leu7740=)
c.18685T>C (p.Leu6229=)
c.1951T>C (p.Leu651=)
c.25423T>C (p.Leu8475=)
c.25372T>C (p.Leu8458=)
c.25225T>C (p.Leu8409=)
6g.152140063A>TCA366080413SYNE1c.1879T>A (p.Leu627Met)
c.25345T>A (p.Leu8449Met)
c.25201T>A (p.Leu8401Met)
c.747T>A
c.1080T>A
c.989T>A
c.1117T>A (p.Leu373Met)
c.24130T>A (p.Leu8044Met)
n.2093T>A
c.4180T>A (p.Leu1394Met)
n.9037T>A
c.3283T>A (p.Leu1095Met)
n.8929T>A
n.1959T>A
n.4367T>A
n.2182T>A
c.1810T>A (p.Leu604Met)
c.25450T>A (p.Leu8484Met)
c.25438T>A (p.Leu8480Met)
c.25429T>A (p.Leu8477Met)
c.25399T>A (p.Leu8467Met)
c.25435T>A (p.Leu8479Met)
c.25381T>A (p.Leu8461Met)
c.25378T>A (p.Leu8460Met)
c.25366T>A (p.Leu8456Met)
c.25309T>A (p.Leu8437Met)
c.25297T>A (p.Leu8433Met)
c.25294T>A (p.Leu8432Met)
c.25291T>A (p.Leu8431Met)
c.25447T>A (p.Leu8483Met)
c.25285T>A (p.Leu8429Met)
c.23725T>A (p.Leu7909Met)
c.23218T>A (p.Leu7740Met)
c.18685T>A (p.Leu6229Met)
c.1951T>A (p.Leu651Met)
c.25423T>A (p.Leu8475Met)
c.25372T>A (p.Leu8458Met)
c.25225T>A (p.Leu8409Met)
6g.152140064G>ACA452969897SYNE1c.1878C>T (p.Asp626=)
c.25344C>T (p.Asp8448=)
c.25200C>T (p.Asp8400=)
c.746C>T
c.1079C>T
c.988C>T
c.1116C>T (p.Asp372=)
c.24129C>T (p.Asp8043=)
n.2092C>T
c.4179C>T (p.Asp1393=)
n.9036C>T
c.3282C>T (p.Asp1094=)
n.8928C>T
n.1958C>T
n.4366C>T
n.2181C>T
c.1809C>T (p.Asp603=)
c.25449C>T (p.Asp8483=)
c.25437C>T (p.Asp8479=)
c.25428C>T (p.Asp8476=)
c.25398C>T (p.Asp8466=)
c.25434C>T (p.Asp8478=)
c.25380C>T (p.Asp8460=)
c.25377C>T (p.Asp8459=)
c.25365C>T (p.Asp8455=)
c.25308C>T (p.Asp8436=)
c.25296C>T (p.Asp8432=)
c.25293C>T (p.Asp8431=)
c.25290C>T (p.Asp8430=)
c.25446C>T (p.Asp8482=)
c.25284C>T (p.Asp8428=)
c.23724C>T (p.Asp7908=)
c.23217C>T (p.Asp7739=)
c.18684C>T (p.Asp6228=)
c.1950C>T (p.Asp650=)
c.25422C>T (p.Asp8474=)
c.25371C>T (p.Asp8457=)
c.25224C>T (p.Asp8408=)
 dbSNP gnomAD v2 gnomAD v4
6g.152140064G>CCA366080415SYNE1c.1878C>G (p.Asp626Glu)
c.25344C>G (p.Asp8448Glu)
c.25200C>G (p.Asp8400Glu)
c.746C>G
c.1079C>G
c.988C>G
c.1116C>G (p.Asp372Glu)
c.24129C>G (p.Asp8043Glu)
n.2092C>G
c.4179C>G (p.Asp1393Glu)
n.9036C>G
c.3282C>G (p.Asp1094Glu)
n.8928C>G
n.1958C>G
n.4366C>G
n.2181C>G
c.1809C>G (p.Asp603Glu)
c.25449C>G (p.Asp8483Glu)
c.25437C>G (p.Asp8479Glu)
c.25428C>G (p.Asp8476Glu)
c.25398C>G (p.Asp8466Glu)
c.25434C>G (p.Asp8478Glu)
c.25380C>G (p.Asp8460Glu)
c.25377C>G (p.Asp8459Glu)
c.25365C>G (p.Asp8455Glu)
c.25308C>G (p.Asp8436Glu)
c.25296C>G (p.Asp8432Glu)
c.25293C>G (p.Asp8431Glu)
c.25290C>G (p.Asp8430Glu)
c.25446C>G (p.Asp8482Glu)
c.25284C>G (p.Asp8428Glu)
c.23724C>G (p.Asp7908Glu)
c.23217C>G (p.Asp7739Glu)
c.18684C>G (p.Asp6228Glu)
c.1950C>G (p.Asp650Glu)
c.25422C>G (p.Asp8474Glu)
c.25371C>G (p.Asp8457Glu)
c.25224C>G (p.Asp8408Glu)
6g.152140064G=CA1673206321SYNE1c.1878C= (p.Asp626=)
c.25344C= (p.Asp8448=)
c.25200C= (p.Asp8400=)
c.746C=
c.1079C=
c.988C=
c.1116C= (p.Asp372=)
c.24129C= (p.Asp8043=)
n.2092C=
c.4179C= (p.Asp1393=)
n.9036C=
c.3282C= (p.Asp1094=)
n.8928C=
n.1958C=
n.4366C=
n.2181C=
c.1809C= (p.Asp603=)
c.25449C= (p.Asp8483=)
c.25437C= (p.Asp8479=)
c.25428C= (p.Asp8476=)
c.25398C= (p.Asp8466=)
c.25434C= (p.Asp8478=)
c.25380C= (p.Asp8460=)
c.25377C= (p.Asp8459=)
c.25365C= (p.Asp8455=)
c.25308C= (p.Asp8436=)
c.25296C= (p.Asp8432=)
c.25293C= (p.Asp8431=)
c.25290C= (p.Asp8430=)
c.25446C= (p.Asp8482=)
c.25284C= (p.Asp8428=)
c.23724C= (p.Asp7908=)
c.23217C= (p.Asp7739=)
c.18684C= (p.Asp6228=)
c.1950C= (p.Asp650=)
c.25422C= (p.Asp8474=)
c.25371C= (p.Asp8457=)
c.25224C= (p.Asp8408=)
6g.152140064G>TCA366080417SYNE1c.1878C>A (p.Asp626Glu)
c.25344C>A (p.Asp8448Glu)
c.25200C>A (p.Asp8400Glu)
c.746C>A
c.1079C>A
c.988C>A
c.1116C>A (p.Asp372Glu)
c.24129C>A (p.Asp8043Glu)
n.2092C>A
c.4179C>A (p.Asp1393Glu)
n.9036C>A
c.3282C>A (p.Asp1094Glu)
n.8928C>A
n.1958C>A
n.4366C>A
n.2181C>A
c.1809C>A (p.Asp603Glu)
c.25449C>A (p.Asp8483Glu)
c.25437C>A (p.Asp8479Glu)
c.25428C>A (p.Asp8476Glu)
c.25398C>A (p.Asp8466Glu)
c.25434C>A (p.Asp8478Glu)
c.25380C>A (p.Asp8460Glu)
c.25377C>A (p.Asp8459Glu)
c.25365C>A (p.Asp8455Glu)
c.25308C>A (p.Asp8436Glu)
c.25296C>A (p.Asp8432Glu)
c.25293C>A (p.Asp8431Glu)
c.25290C>A (p.Asp8430Glu)
c.25446C>A (p.Asp8482Glu)
c.25284C>A (p.Asp8428Glu)
c.23724C>A (p.Asp7908Glu)
c.23217C>A (p.Asp7739Glu)
c.18684C>A (p.Asp6228Glu)
c.1950C>A (p.Asp650Glu)
c.25422C>A (p.Asp8474Glu)
c.25371C>A (p.Asp8457Glu)
c.25224C>A (p.Asp8408Glu)
6g.152140065T>ACA366080420SYNE1c.1877A>T (p.Asp626Val)
c.25343A>T (p.Asp8448Val)
c.25199A>T (p.Asp8400Val)
c.745A>T
c.1078A>T
c.987A>T
c.1115A>T (p.Asp372Val)
c.24128A>T (p.Asp8043Val)
n.2091A>T
c.4178A>T (p.Asp1393Val)
n.9035A>T
c.3281A>T (p.Asp1094Val)
n.8927A>T
n.1957A>T
n.4365A>T
n.2180A>T
c.1808A>T (p.Asp603Val)
c.25448A>T (p.Asp8483Val)
c.25436A>T (p.Asp8479Val)
c.25427A>T (p.Asp8476Val)
c.25397A>T (p.Asp8466Val)
c.25433A>T (p.Asp8478Val)
c.25379A>T (p.Asp8460Val)
c.25376A>T (p.Asp8459Val)
c.25364A>T (p.Asp8455Val)
c.25307A>T (p.Asp8436Val)
c.25295A>T (p.Asp8432Val)
c.25292A>T (p.Asp8431Val)
c.25289A>T (p.Asp8430Val)
c.25445A>T (p.Asp8482Val)
c.25283A>T (p.Asp8428Val)
c.23723A>T (p.Asp7908Val)
c.23216A>T (p.Asp7739Val)
c.18683A>T (p.Asp6228Val)
c.1949A>T (p.Asp650Val)
c.25421A>T (p.Asp8474Val)
c.25370A>T (p.Asp8457Val)
c.25223A>T (p.Asp8408Val)
6g.152140065T>CCA366080422SYNE1c.1877A>G (p.Asp626Gly)
c.25343A>G (p.Asp8448Gly)
c.25199A>G (p.Asp8400Gly)
c.745A>G
c.1078A>G
c.987A>G
c.1115A>G (p.Asp372Gly)
c.24128A>G (p.Asp8043Gly)
n.2091A>G
c.4178A>G (p.Asp1393Gly)
n.9035A>G
c.3281A>G (p.Asp1094Gly)
n.8927A>G
n.1957A>G
n.4365A>G
n.2180A>G
c.1808A>G (p.Asp603Gly)
c.25448A>G (p.Asp8483Gly)
c.25436A>G (p.Asp8479Gly)
c.25427A>G (p.Asp8476Gly)
c.25397A>G (p.Asp8466Gly)
c.25433A>G (p.Asp8478Gly)
c.25379A>G (p.Asp8460Gly)
c.25376A>G (p.Asp8459Gly)
c.25364A>G (p.Asp8455Gly)
c.25307A>G (p.Asp8436Gly)
c.25295A>G (p.Asp8432Gly)
c.25292A>G (p.Asp8431Gly)
c.25289A>G (p.Asp8430Gly)
c.25445A>G (p.Asp8482Gly)
c.25283A>G (p.Asp8428Gly)
c.23723A>G (p.Asp7908Gly)
c.23216A>G (p.Asp7739Gly)
c.18683A>G (p.Asp6228Gly)
c.1949A>G (p.Asp650Gly)
c.25421A>G (p.Asp8474Gly)
c.25370A>G (p.Asp8457Gly)
c.25223A>G (p.Asp8408Gly)
6g.152140065T>GCA366080425SYNE1c.1877A>C (p.Asp626Ala)
c.25343A>C (p.Asp8448Ala)
c.25199A>C (p.Asp8400Ala)
c.745A>C
c.1078A>C
c.987A>C
c.1115A>C (p.Asp372Ala)
c.24128A>C (p.Asp8043Ala)
n.2091A>C
c.4178A>C (p.Asp1393Ala)
n.9035A>C
c.3281A>C (p.Asp1094Ala)
n.8927A>C
n.1957A>C
n.4365A>C
n.2180A>C
c.1808A>C (p.Asp603Ala)
c.25448A>C (p.Asp8483Ala)
c.25436A>C (p.Asp8479Ala)
c.25427A>C (p.Asp8476Ala)
c.25397A>C (p.Asp8466Ala)
c.25433A>C (p.Asp8478Ala)
c.25379A>C (p.Asp8460Ala)
c.25376A>C (p.Asp8459Ala)
c.25364A>C (p.Asp8455Ala)
c.25307A>C (p.Asp8436Ala)
c.25295A>C (p.Asp8432Ala)
c.25292A>C (p.Asp8431Ala)
c.25289A>C (p.Asp8430Ala)
c.25445A>C (p.Asp8482Ala)
c.25283A>C (p.Asp8428Ala)
c.23723A>C (p.Asp7908Ala)
c.23216A>C (p.Asp7739Ala)
c.18683A>C (p.Asp6228Ala)
c.1949A>C (p.Asp650Ala)
c.25421A>C (p.Asp8474Ala)
c.25370A>C (p.Asp8457Ala)
c.25223A>C (p.Asp8408Ala)
6g.152140066C>ACA366080429SYNE1c.1876G>T (p.Asp626Tyr)
c.25342G>T (p.Asp8448Tyr)
c.25198G>T (p.Asp8400Tyr)
c.744G>T
c.1077G>T
c.986G>T
c.1114G>T (p.Asp372Tyr)
c.24127G>T (p.Asp8043Tyr)
n.2090G>T
c.4177G>T (p.Asp1393Tyr)
n.9034G>T
c.3280G>T (p.Asp1094Tyr)
n.8926G>T
n.1956G>T
n.4364G>T
n.2179G>T
c.1807G>T (p.Asp603Tyr)
c.25447G>T (p.Asp8483Tyr)
c.25435G>T (p.Asp8479Tyr)
c.25426G>T (p.Asp8476Tyr)
c.25396G>T (p.Asp8466Tyr)
c.25432G>T (p.Asp8478Tyr)
c.25378G>T (p.Asp8460Tyr)
c.25375G>T (p.Asp8459Tyr)
c.25363G>T (p.Asp8455Tyr)
c.25306G>T (p.Asp8436Tyr)
c.25294G>T (p.Asp8432Tyr)
c.25291G>T (p.Asp8431Tyr)
c.25288G>T (p.Asp8430Tyr)
c.25444G>T (p.Asp8482Tyr)
c.25282G>T (p.Asp8428Tyr)
c.23722G>T (p.Asp7908Tyr)
c.23215G>T (p.Asp7739Tyr)
c.18682G>T (p.Asp6228Tyr)
c.1948G>T (p.Asp650Tyr)
c.25420G>T (p.Asp8474Tyr)
c.25369G>T (p.Asp8457Tyr)
c.25222G>T (p.Asp8408Tyr)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140066C=CA1673206327SYNE1c.1876G= (p.Asp626=)
c.25342G= (p.Asp8448=)
c.25198G= (p.Asp8400=)
c.744G=
c.1077G=
c.986G=
c.1114G= (p.Asp372=)
c.24127G= (p.Asp8043=)
n.2090G=
c.4177G= (p.Asp1393=)
n.9034G=
c.3280G= (p.Asp1094=)
n.8926G=
n.1956G=
n.4364G=
n.2179G=
c.1807G= (p.Asp603=)
c.25447G= (p.Asp8483=)
c.25435G= (p.Asp8479=)
c.25426G= (p.Asp8476=)
c.25396G= (p.Asp8466=)
c.25432G= (p.Asp8478=)
c.25378G= (p.Asp8460=)
c.25375G= (p.Asp8459=)
c.25363G= (p.Asp8455=)
c.25306G= (p.Asp8436=)
c.25294G= (p.Asp8432=)
c.25291G= (p.Asp8431=)
c.25288G= (p.Asp8430=)
c.25444G= (p.Asp8482=)
c.25282G= (p.Asp8428=)
c.23722G= (p.Asp7908=)
c.23215G= (p.Asp7739=)
c.18682G= (p.Asp6228=)
c.1948G= (p.Asp650=)
c.25420G= (p.Asp8474=)
c.25369G= (p.Asp8457=)
c.25222G= (p.Asp8408=)
6g.152140066C>GCA366080431SYNE1c.1876G>C (p.Asp626His)
c.25342G>C (p.Asp8448His)
c.25198G>C (p.Asp8400His)
c.744G>C
c.1077G>C
c.986G>C
c.1114G>C (p.Asp372His)
c.24127G>C (p.Asp8043His)
n.2090G>C
c.4177G>C (p.Asp1393His)
n.9034G>C
c.3280G>C (p.Asp1094His)
n.8926G>C
n.1956G>C
n.4364G>C
n.2179G>C
c.1807G>C (p.Asp603His)
c.25447G>C (p.Asp8483His)
c.25435G>C (p.Asp8479His)
c.25426G>C (p.Asp8476His)
c.25396G>C (p.Asp8466His)
c.25432G>C (p.Asp8478His)
c.25378G>C (p.Asp8460His)
c.25375G>C (p.Asp8459His)
c.25363G>C (p.Asp8455His)
c.25306G>C (p.Asp8436His)
c.25294G>C (p.Asp8432His)
c.25291G>C (p.Asp8431His)
c.25288G>C (p.Asp8430His)
c.25444G>C (p.Asp8482His)
c.25282G>C (p.Asp8428His)
c.23722G>C (p.Asp7908His)
c.23215G>C (p.Asp7739His)
c.18682G>C (p.Asp6228His)
c.1948G>C (p.Asp650His)
c.25420G>C (p.Asp8474His)
c.25369G>C (p.Asp8457His)
c.25222G>C (p.Asp8408His)
6g.152140066C>TCA4052865SYNE1c.1876G>A (p.Asp626Asn)
c.25342G>A (p.Asp8448Asn)
c.25198G>A (p.Asp8400Asn)
c.744G>A
c.1077G>A
c.986G>A
c.1114G>A (p.Asp372Asn)
c.24127G>A (p.Asp8043Asn)
n.2090G>A
c.4177G>A (p.Asp1393Asn)
n.9034G>A
c.3280G>A (p.Asp1094Asn)
n.8926G>A
n.1956G>A
n.4364G>A
n.2179G>A
c.1807G>A (p.Asp603Asn)
c.25447G>A (p.Asp8483Asn)
c.25435G>A (p.Asp8479Asn)
c.25426G>A (p.Asp8476Asn)
c.25396G>A (p.Asp8466Asn)
c.25432G>A (p.Asp8478Asn)
c.25378G>A (p.Asp8460Asn)
c.25375G>A (p.Asp8459Asn)
c.25363G>A (p.Asp8455Asn)
c.25306G>A (p.Asp8436Asn)
c.25294G>A (p.Asp8432Asn)
c.25291G>A (p.Asp8431Asn)
c.25288G>A (p.Asp8430Asn)
c.25444G>A (p.Asp8482Asn)
c.25282G>A (p.Asp8428Asn)
c.23722G>A (p.Asp7908Asn)
c.23215G>A (p.Asp7739Asn)
c.18682G>A (p.Asp6228Asn)
c.1948G>A (p.Asp650Asn)
c.25420G>A (p.Asp8474Asn)
c.25369G>A (p.Asp8457Asn)
c.25222G>A (p.Asp8408Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152140067T>ACA452969901SYNE1c.1875A>T (p.Ser625=)
c.25341A>T (p.Ser8447=)
c.25197A>T (p.Ser8399=)
c.743A>T
c.1076A>T
c.985A>T
c.1113A>T (p.Ser371=)
c.24126A>T (p.Ser8042=)
n.2089A>T
c.4176A>T (p.Ser1392=)
n.9033A>T
c.3279A>T (p.Ser1093=)
n.8925A>T
n.1955A>T
n.4363A>T
n.2178A>T
c.1806A>T (p.Ser602=)
c.25446A>T (p.Ser8482=)
c.25434A>T (p.Ser8478=)
c.25425A>T (p.Ser8475=)
c.25395A>T (p.Ser8465=)
c.25431A>T (p.Ser8477=)
c.25377A>T (p.Ser8459=)
c.25374A>T (p.Ser8458=)
c.25362A>T (p.Ser8454=)
c.25305A>T (p.Ser8435=)
c.25293A>T (p.Ser8431=)
c.25290A>T (p.Ser8430=)
c.25287A>T (p.Ser8429=)
c.25443A>T (p.Ser8481=)
c.25281A>T (p.Ser8427=)
c.23721A>T (p.Ser7907=)
c.23214A>T (p.Ser7738=)
c.18681A>T (p.Ser6227=)
c.1947A>T (p.Ser649=)
c.25419A>T (p.Ser8473=)
c.25368A>T (p.Ser8456=)
c.25221A>T (p.Ser8407=)
6g.152140067T>CCA452969902SYNE1c.1875A>G (p.Ser625=)
c.25341A>G (p.Ser8447=)
c.25197A>G (p.Ser8399=)
c.743A>G
c.1076A>G
c.985A>G
c.1113A>G (p.Ser371=)
c.24126A>G (p.Ser8042=)
n.2089A>G
c.4176A>G (p.Ser1392=)
n.9033A>G
c.3279A>G (p.Ser1093=)
n.8925A>G
n.1955A>G
n.4363A>G
n.2178A>G
c.1806A>G (p.Ser602=)
c.25446A>G (p.Ser8482=)
c.25434A>G (p.Ser8478=)
c.25425A>G (p.Ser8475=)
c.25395A>G (p.Ser8465=)
c.25431A>G (p.Ser8477=)
c.25377A>G (p.Ser8459=)
c.25374A>G (p.Ser8458=)
c.25362A>G (p.Ser8454=)
c.25305A>G (p.Ser8435=)
c.25293A>G (p.Ser8431=)
c.25290A>G (p.Ser8430=)
c.25287A>G (p.Ser8429=)
c.25443A>G (p.Ser8481=)
c.25281A>G (p.Ser8427=)
c.23721A>G (p.Ser7907=)
c.23214A>G (p.Ser7738=)
c.18681A>G (p.Ser6227=)
c.1947A>G (p.Ser649=)
c.25419A>G (p.Ser8473=)
c.25368A>G (p.Ser8456=)
c.25221A>G (p.Ser8407=)
6g.152140067T>GCA452969903SYNE1c.1875A>C (p.Ser625=)
c.25341A>C (p.Ser8447=)
c.25197A>C (p.Ser8399=)
c.743A>C
c.1076A>C
c.985A>C
c.1113A>C (p.Ser371=)
c.24126A>C (p.Ser8042=)
n.2089A>C
c.4176A>C (p.Ser1392=)
n.9033A>C
c.3279A>C (p.Ser1093=)
n.8925A>C
n.1955A>C
n.4363A>C
n.2178A>C
c.1806A>C (p.Ser602=)
c.25446A>C (p.Ser8482=)
c.25434A>C (p.Ser8478=)
c.25425A>C (p.Ser8475=)
c.25395A>C (p.Ser8465=)
c.25431A>C (p.Ser8477=)
c.25377A>C (p.Ser8459=)
c.25374A>C (p.Ser8458=)
c.25362A>C (p.Ser8454=)
c.25305A>C (p.Ser8435=)
c.25293A>C (p.Ser8431=)
c.25290A>C (p.Ser8430=)
c.25287A>C (p.Ser8429=)
c.25443A>C (p.Ser8481=)
c.25281A>C (p.Ser8427=)
c.23721A>C (p.Ser7907=)
c.23214A>C (p.Ser7738=)
c.18681A>C (p.Ser6227=)
c.1947A>C (p.Ser649=)
c.25419A>C (p.Ser8473=)
c.25368A>C (p.Ser8456=)
c.25221A>C (p.Ser8407=)
6g.152140068G>ACA150165595SYNE1c.1874C>T (p.Ser625Leu)
c.25340C>T (p.Ser8447Leu)
c.25196C>T (p.Ser8399Leu)
c.742C>T
c.1075C>T
c.984C>T
c.1112C>T (p.Ser371Leu)
c.24125C>T (p.Ser8042Leu)
n.2088C>T
c.4175C>T (p.Ser1392Leu)
n.9032C>T
c.3278C>T (p.Ser1093Leu)
n.8924C>T
n.1954C>T
n.4362C>T
n.2177C>T
c.1805C>T (p.Ser602Leu)
c.25445C>T (p.Ser8482Leu)
c.25433C>T (p.Ser8478Leu)
c.25424C>T (p.Ser8475Leu)
c.25394C>T (p.Ser8465Leu)
c.25430C>T (p.Ser8477Leu)
c.25376C>T (p.Ser8459Leu)
c.25373C>T (p.Ser8458Leu)
c.25361C>T (p.Ser8454Leu)
c.25304C>T (p.Ser8435Leu)
c.25292C>T (p.Ser8431Leu)
c.25289C>T (p.Ser8430Leu)
c.25286C>T (p.Ser8429Leu)
c.25442C>T (p.Ser8481Leu)
c.25280C>T (p.Ser8427Leu)
c.23720C>T (p.Ser7907Leu)
c.23213C>T (p.Ser7738Leu)
c.18680C>T (p.Ser6227Leu)
c.1946C>T (p.Ser649Leu)
c.25418C>T (p.Ser8473Leu)
c.25367C>T (p.Ser8456Leu)
c.25220C>T (p.Ser8407Leu)
 dbSNP
6g.152140068G>CCA150165596SYNE1c.1874C>G (p.Ser625Ter)
c.25340C>G (p.Ser8447Ter)
c.25196C>G (p.Ser8399Ter)
c.742C>G
c.1075C>G
c.984C>G
c.1112C>G (p.Ser371Ter)
c.24125C>G (p.Ser8042Ter)
n.2088C>G
c.4175C>G (p.Ser1392Ter)
n.9032C>G
c.3278C>G (p.Ser1093Ter)
n.8924C>G
n.1954C>G
n.4362C>G
n.2177C>G
c.1805C>G (p.Ser602Ter)
c.25445C>G (p.Ser8482Ter)
c.25433C>G (p.Ser8478Ter)
c.25424C>G (p.Ser8475Ter)
c.25394C>G (p.Ser8465Ter)
c.25430C>G (p.Ser8477Ter)
c.25376C>G (p.Ser8459Ter)
c.25373C>G (p.Ser8458Ter)
c.25361C>G (p.Ser8454Ter)
c.25304C>G (p.Ser8435Ter)
c.25292C>G (p.Ser8431Ter)
c.25289C>G (p.Ser8430Ter)
c.25286C>G (p.Ser8429Ter)
c.25442C>G (p.Ser8481Ter)
c.25280C>G (p.Ser8427Ter)
c.23720C>G (p.Ser7907Ter)
c.23213C>G (p.Ser7738Ter)
c.18680C>G (p.Ser6227Ter)
c.1946C>G (p.Ser649Ter)
c.25418C>G (p.Ser8473Ter)
c.25367C>G (p.Ser8456Ter)
c.25220C>G (p.Ser8407Ter)
 dbSNP
6g.152140068G=CA1673206334SYNE1c.1874C= (p.Ser625=)
c.25340C= (p.Ser8447=)
c.25196C= (p.Ser8399=)
c.742C=
c.1075C=
c.984C=
c.1112C= (p.Ser371=)
c.24125C= (p.Ser8042=)
n.2088C=
c.4175C= (p.Ser1392=)
n.9032C=
c.3278C= (p.Ser1093=)
n.8924C=
n.1954C=
n.4362C=
n.2177C=
c.1805C= (p.Ser602=)
c.25445C= (p.Ser8482=)
c.25433C= (p.Ser8478=)
c.25424C= (p.Ser8475=)
c.25394C= (p.Ser8465=)
c.25430C= (p.Ser8477=)
c.25376C= (p.Ser8459=)
c.25373C= (p.Ser8458=)
c.25361C= (p.Ser8454=)
c.25304C= (p.Ser8435=)
c.25292C= (p.Ser8431=)
c.25289C= (p.Ser8430=)
c.25286C= (p.Ser8429=)
c.25442C= (p.Ser8481=)
c.25280C= (p.Ser8427=)
c.23720C= (p.Ser7907=)
c.23213C= (p.Ser7738=)
c.18680C= (p.Ser6227=)
c.1946C= (p.Ser649=)
c.25418C= (p.Ser8473=)
c.25367C= (p.Ser8456=)
c.25220C= (p.Ser8407=)
6g.152140068G>TCA366080439SYNE1c.1874C>A (p.Ser625Ter)
c.25340C>A (p.Ser8447Ter)
c.25196C>A (p.Ser8399Ter)
c.742C>A
c.1075C>A
c.984C>A
c.1112C>A (p.Ser371Ter)
c.24125C>A (p.Ser8042Ter)
n.2088C>A
c.4175C>A (p.Ser1392Ter)
n.9032C>A
c.3278C>A (p.Ser1093Ter)
n.8924C>A
n.1954C>A
n.4362C>A
n.2177C>A
c.1805C>A (p.Ser602Ter)
c.25445C>A (p.Ser8482Ter)
c.25433C>A (p.Ser8478Ter)
c.25424C>A (p.Ser8475Ter)
c.25394C>A (p.Ser8465Ter)
c.25430C>A (p.Ser8477Ter)
c.25376C>A (p.Ser8459Ter)
c.25373C>A (p.Ser8458Ter)
c.25361C>A (p.Ser8454Ter)
c.25304C>A (p.Ser8435Ter)
c.25292C>A (p.Ser8431Ter)
c.25289C>A (p.Ser8430Ter)
c.25286C>A (p.Ser8429Ter)
c.25442C>A (p.Ser8481Ter)
c.25280C>A (p.Ser8427Ter)
c.23720C>A (p.Ser7907Ter)
c.23213C>A (p.Ser7738Ter)
c.18680C>A (p.Ser6227Ter)
c.1946C>A (p.Ser649Ter)
c.25418C>A (p.Ser8473Ter)
c.25367C>A (p.Ser8456Ter)
c.25220C>A (p.Ser8407Ter)
6g.152140069A>CCA366080443SYNE1c.1873T>G (p.Ser625Ala)
c.25339T>G (p.Ser8447Ala)
c.25195T>G (p.Ser8399Ala)
c.741T>G
c.1074T>G
c.983T>G
c.1111T>G (p.Ser371Ala)
c.24124T>G (p.Ser8042Ala)
n.2087T>G
c.4174T>G (p.Ser1392Ala)
n.9031T>G
c.3277T>G (p.Ser1093Ala)
n.8923T>G
n.1953T>G
n.4361T>G
n.2176T>G
c.1804T>G (p.Ser602Ala)
c.25444T>G (p.Ser8482Ala)
c.25432T>G (p.Ser8478Ala)
c.25423T>G (p.Ser8475Ala)
c.25393T>G (p.Ser8465Ala)
c.25429T>G (p.Ser8477Ala)
c.25375T>G (p.Ser8459Ala)
c.25372T>G (p.Ser8458Ala)
c.25360T>G (p.Ser8454Ala)
c.25303T>G (p.Ser8435Ala)
c.25291T>G (p.Ser8431Ala)
c.25288T>G (p.Ser8430Ala)
c.25285T>G (p.Ser8429Ala)
c.25441T>G (p.Ser8481Ala)
c.25279T>G (p.Ser8427Ala)
c.23719T>G (p.Ser7907Ala)
c.23212T>G (p.Ser7738Ala)
c.18679T>G (p.Ser6227Ala)
c.1945T>G (p.Ser649Ala)
c.25417T>G (p.Ser8473Ala)
c.25366T>G (p.Ser8456Ala)
c.25219T>G (p.Ser8407Ala)
6g.152140069A>GCA366080445SYNE1c.1873T>C (p.Ser625Pro)
c.25339T>C (p.Ser8447Pro)
c.25195T>C (p.Ser8399Pro)
c.741T>C
c.1074T>C
c.983T>C
c.1111T>C (p.Ser371Pro)
c.24124T>C (p.Ser8042Pro)
n.2087T>C
c.4174T>C (p.Ser1392Pro)
n.9031T>C
c.3277T>C (p.Ser1093Pro)
n.8923T>C
n.1953T>C
n.4361T>C
n.2176T>C
c.1804T>C (p.Ser602Pro)
c.25444T>C (p.Ser8482Pro)
c.25432T>C (p.Ser8478Pro)
c.25423T>C (p.Ser8475Pro)
c.25393T>C (p.Ser8465Pro)
c.25429T>C (p.Ser8477Pro)
c.25375T>C (p.Ser8459Pro)
c.25372T>C (p.Ser8458Pro)
c.25360T>C (p.Ser8454Pro)
c.25303T>C (p.Ser8435Pro)
c.25291T>C (p.Ser8431Pro)
c.25288T>C (p.Ser8430Pro)
c.25285T>C (p.Ser8429Pro)
c.25441T>C (p.Ser8481Pro)
c.25279T>C (p.Ser8427Pro)
c.23719T>C (p.Ser7907Pro)
c.23212T>C (p.Ser7738Pro)
c.18679T>C (p.Ser6227Pro)
c.1945T>C (p.Ser649Pro)
c.25417T>C (p.Ser8473Pro)
c.25366T>C (p.Ser8456Pro)
c.25219T>C (p.Ser8407Pro)
6g.152140069A>TCA366080449SYNE1c.1873T>A (p.Ser625Thr)
c.25339T>A (p.Ser8447Thr)
c.25195T>A (p.Ser8399Thr)
c.741T>A
c.1074T>A
c.983T>A
c.1111T>A (p.Ser371Thr)
c.24124T>A (p.Ser8042Thr)
n.2087T>A
c.4174T>A (p.Ser1392Thr)
n.9031T>A
c.3277T>A (p.Ser1093Thr)
n.8923T>A
n.1953T>A
n.4361T>A
n.2176T>A
c.1804T>A (p.Ser602Thr)
c.25444T>A (p.Ser8482Thr)
c.25432T>A (p.Ser8478Thr)
c.25423T>A (p.Ser8475Thr)
c.25393T>A (p.Ser8465Thr)
c.25429T>A (p.Ser8477Thr)
c.25375T>A (p.Ser8459Thr)
c.25372T>A (p.Ser8458Thr)
c.25360T>A (p.Ser8454Thr)
c.25303T>A (p.Ser8435Thr)
c.25291T>A (p.Ser8431Thr)
c.25288T>A (p.Ser8430Thr)
c.25285T>A (p.Ser8429Thr)
c.25441T>A (p.Ser8481Thr)
c.25279T>A (p.Ser8427Thr)
c.23719T>A (p.Ser7907Thr)
c.23212T>A (p.Ser7738Thr)
c.18679T>A (p.Ser6227Thr)
c.1945T>A (p.Ser649Thr)
c.25417T>A (p.Ser8473Thr)
c.25366T>A (p.Ser8456Thr)
c.25219T>A (p.Ser8407Thr)
6g.152140070G>ACA452969908SYNE1c.1872C>T (p.Asn624=)
c.25338C>T (p.Asn8446=)
c.25194C>T (p.Asn8398=)
c.740C>T
c.1073C>T
c.982C>T
c.1110C>T (p.Asn370=)
c.24123C>T (p.Asn8041=)
n.2086C>T
c.4173C>T (p.Asn1391=)
n.9030C>T
c.3276C>T (p.Asn1092=)
n.8922C>T
n.1952C>T
n.4360C>T
n.2175C>T
c.1803C>T (p.Asn601=)
c.25443C>T (p.Asn8481=)
c.25431C>T (p.Asn8477=)
c.25422C>T (p.Asn8474=)
c.25392C>T (p.Asn8464=)
c.25428C>T (p.Asn8476=)
c.25374C>T (p.Asn8458=)
c.25371C>T (p.Asn8457=)
c.25359C>T (p.Asn8453=)
c.25302C>T (p.Asn8434=)
c.25290C>T (p.Asn8430=)
c.25287C>T (p.Asn8429=)
c.25284C>T (p.Asn8428=)
c.25440C>T (p.Asn8480=)
c.25278C>T (p.Asn8426=)
c.23718C>T (p.Asn7906=)
c.23211C>T (p.Asn7737=)
c.18678C>T (p.Asn6226=)
c.1944C>T (p.Asn648=)
c.25416C>T (p.Asn8472=)
c.25365C>T (p.Asn8455=)
c.25218C>T (p.Asn8406=)
6g.152140070G>CCA366080451SYNE1c.1872C>G (p.Asn624Lys)
c.25338C>G (p.Asn8446Lys)
c.25194C>G (p.Asn8398Lys)
c.740C>G
c.1073C>G
c.982C>G
c.1110C>G (p.Asn370Lys)
c.24123C>G (p.Asn8041Lys)
n.2086C>G
c.4173C>G (p.Asn1391Lys)
n.9030C>G
c.3276C>G (p.Asn1092Lys)
n.8922C>G
n.1952C>G
n.4360C>G
n.2175C>G
c.1803C>G (p.Asn601Lys)
c.25443C>G (p.Asn8481Lys)
c.25431C>G (p.Asn8477Lys)
c.25422C>G (p.Asn8474Lys)
c.25392C>G (p.Asn8464Lys)
c.25428C>G (p.Asn8476Lys)
c.25374C>G (p.Asn8458Lys)
c.25371C>G (p.Asn8457Lys)
c.25359C>G (p.Asn8453Lys)
c.25302C>G (p.Asn8434Lys)
c.25290C>G (p.Asn8430Lys)
c.25287C>G (p.Asn8429Lys)
c.25284C>G (p.Asn8428Lys)
c.25440C>G (p.Asn8480Lys)
c.25278C>G (p.Asn8426Lys)
c.23718C>G (p.Asn7906Lys)
c.23211C>G (p.Asn7737Lys)
c.18678C>G (p.Asn6226Lys)
c.1944C>G (p.Asn648Lys)
c.25416C>G (p.Asn8472Lys)
c.25365C>G (p.Asn8455Lys)
c.25218C>G (p.Asn8406Lys)
6g.152140070G>TCA366080453SYNE1c.1872C>A (p.Asn624Lys)
c.25338C>A (p.Asn8446Lys)
c.25194C>A (p.Asn8398Lys)
c.740C>A
c.1073C>A
c.982C>A
c.1110C>A (p.Asn370Lys)
c.24123C>A (p.Asn8041Lys)
n.2086C>A
c.4173C>A (p.Asn1391Lys)
n.9030C>A
c.3276C>A (p.Asn1092Lys)
n.8922C>A
n.1952C>A
n.4360C>A
n.2175C>A
c.1803C>A (p.Asn601Lys)
c.25443C>A (p.Asn8481Lys)
c.25431C>A (p.Asn8477Lys)
c.25422C>A (p.Asn8474Lys)
c.25392C>A (p.Asn8464Lys)
c.25428C>A (p.Asn8476Lys)
c.25374C>A (p.Asn8458Lys)
c.25371C>A (p.Asn8457Lys)
c.25359C>A (p.Asn8453Lys)
c.25302C>A (p.Asn8434Lys)
c.25290C>A (p.Asn8430Lys)
c.25287C>A (p.Asn8429Lys)
c.25284C>A (p.Asn8428Lys)
c.25440C>A (p.Asn8480Lys)
c.25278C>A (p.Asn8426Lys)
c.23718C>A (p.Asn7906Lys)
c.23211C>A (p.Asn7737Lys)
c.18678C>A (p.Asn6226Lys)
c.1944C>A (p.Asn648Lys)
c.25416C>A (p.Asn8472Lys)
c.25365C>A (p.Asn8455Lys)
c.25218C>A (p.Asn8406Lys)
6g.152140071T>ACA366080456SYNE1c.1871A>T (p.Asn624Ile)
c.25337A>T (p.Asn8446Ile)
c.25193A>T (p.Asn8398Ile)
c.739A>T
c.1072A>T
c.981A>T
c.1109A>T (p.Asn370Ile)
c.24122A>T (p.Asn8041Ile)
n.2085A>T
c.4172A>T (p.Asn1391Ile)
n.9029A>T
c.3275A>T (p.Asn1092Ile)
n.8921A>T
n.1951A>T
n.4359A>T
n.2174A>T
c.1802A>T (p.Asn601Ile)
c.25442A>T (p.Asn8481Ile)
c.25430A>T (p.Asn8477Ile)
c.25421A>T (p.Asn8474Ile)
c.25391A>T (p.Asn8464Ile)
c.25427A>T (p.Asn8476Ile)
c.25373A>T (p.Asn8458Ile)
c.25370A>T (p.Asn8457Ile)
c.25358A>T (p.Asn8453Ile)
c.25301A>T (p.Asn8434Ile)
c.25289A>T (p.Asn8430Ile)
c.25286A>T (p.Asn8429Ile)
c.25283A>T (p.Asn8428Ile)
c.25439A>T (p.Asn8480Ile)
c.25277A>T (p.Asn8426Ile)
c.23717A>T (p.Asn7906Ile)
c.23210A>T (p.Asn7737Ile)
c.18677A>T (p.Asn6226Ile)
c.1943A>T (p.Asn648Ile)
c.25415A>T (p.Asn8472Ile)
c.25364A>T (p.Asn8455Ile)
c.25217A>T (p.Asn8406Ile)
 gnomAD v4
6g.152140071T>CCA366080457SYNE1c.1871A>G (p.Asn624Ser)
c.25337A>G (p.Asn8446Ser)
c.25193A>G (p.Asn8398Ser)
c.739A>G
c.1072A>G
c.981A>G
c.1109A>G (p.Asn370Ser)
c.24122A>G (p.Asn8041Ser)
n.2085A>G
c.4172A>G (p.Asn1391Ser)
n.9029A>G
c.3275A>G (p.Asn1092Ser)
n.8921A>G
n.1951A>G
n.4359A>G
n.2174A>G
c.1802A>G (p.Asn601Ser)
c.25442A>G (p.Asn8481Ser)
c.25430A>G (p.Asn8477Ser)
c.25421A>G (p.Asn8474Ser)
c.25391A>G (p.Asn8464Ser)
c.25427A>G (p.Asn8476Ser)
c.25373A>G (p.Asn8458Ser)
c.25370A>G (p.Asn8457Ser)
c.25358A>G (p.Asn8453Ser)
c.25301A>G (p.Asn8434Ser)
c.25289A>G (p.Asn8430Ser)
c.25286A>G (p.Asn8429Ser)
c.25283A>G (p.Asn8428Ser)
c.25439A>G (p.Asn8480Ser)
c.25277A>G (p.Asn8426Ser)
c.23717A>G (p.Asn7906Ser)
c.23210A>G (p.Asn7737Ser)
c.18677A>G (p.Asn6226Ser)
c.1943A>G (p.Asn648Ser)
c.25415A>G (p.Asn8472Ser)
c.25364A>G (p.Asn8455Ser)
c.25217A>G (p.Asn8406Ser)
6g.152140071T>GCA366080461SYNE1c.1871A>C (p.Asn624Thr)
c.25337A>C (p.Asn8446Thr)
c.25193A>C (p.Asn8398Thr)
c.739A>C
c.1072A>C
c.981A>C
c.1109A>C (p.Asn370Thr)
c.24122A>C (p.Asn8041Thr)
n.2085A>C
c.4172A>C (p.Asn1391Thr)
n.9029A>C
c.3275A>C (p.Asn1092Thr)
n.8921A>C
n.1951A>C
n.4359A>C
n.2174A>C
c.1802A>C (p.Asn601Thr)
c.25442A>C (p.Asn8481Thr)
c.25430A>C (p.Asn8477Thr)
c.25421A>C (p.Asn8474Thr)
c.25391A>C (p.Asn8464Thr)
c.25427A>C (p.Asn8476Thr)
c.25373A>C (p.Asn8458Thr)
c.25370A>C (p.Asn8457Thr)
c.25358A>C (p.Asn8453Thr)
c.25301A>C (p.Asn8434Thr)
c.25289A>C (p.Asn8430Thr)
c.25286A>C (p.Asn8429Thr)
c.25283A>C (p.Asn8428Thr)
c.25439A>C (p.Asn8480Thr)
c.25277A>C (p.Asn8426Thr)
c.23717A>C (p.Asn7906Thr)
c.23210A>C (p.Asn7737Thr)
c.18677A>C (p.Asn6226Thr)
c.1943A>C (p.Asn648Thr)
c.25415A>C (p.Asn8472Thr)
c.25364A>C (p.Asn8455Thr)
c.25217A>C (p.Asn8406Thr)
6g.152140072T>ACA366080469SYNE1c.1870A>T (p.Asn624Tyr)
c.25336A>T (p.Asn8446Tyr)
c.25192A>T (p.Asn8398Tyr)
c.738A>T
c.1071A>T
c.980A>T
c.1108A>T (p.Asn370Tyr)
c.24121A>T (p.Asn8041Tyr)
n.2084A>T
c.4171A>T (p.Asn1391Tyr)
n.9028A>T
c.3274A>T (p.Asn1092Tyr)
n.8920A>T
n.1950A>T
n.4358A>T
n.2173A>T
c.1801A>T (p.Asn601Tyr)
c.25441A>T (p.Asn8481Tyr)
c.25429A>T (p.Asn8477Tyr)
c.25420A>T (p.Asn8474Tyr)
c.25390A>T (p.Asn8464Tyr)
c.25426A>T (p.Asn8476Tyr)
c.25372A>T (p.Asn8458Tyr)
c.25369A>T (p.Asn8457Tyr)
c.25357A>T (p.Asn8453Tyr)
c.25300A>T (p.Asn8434Tyr)
c.25288A>T (p.Asn8430Tyr)
c.25285A>T (p.Asn8429Tyr)
c.25282A>T (p.Asn8428Tyr)
c.25438A>T (p.Asn8480Tyr)
c.25276A>T (p.Asn8426Tyr)
c.23716A>T (p.Asn7906Tyr)
c.23209A>T (p.Asn7737Tyr)
c.18676A>T (p.Asn6226Tyr)
c.1942A>T (p.Asn648Tyr)
c.25414A>T (p.Asn8472Tyr)
c.25363A>T (p.Asn8455Tyr)
c.25216A>T (p.Asn8406Tyr)
6g.152140072T>CCA366080471SYNE1c.1870A>G (p.Asn624Asp)
c.25336A>G (p.Asn8446Asp)
c.25192A>G (p.Asn8398Asp)
c.738A>G
c.1071A>G
c.980A>G
c.1108A>G (p.Asn370Asp)
c.24121A>G (p.Asn8041Asp)
n.2084A>G
c.4171A>G (p.Asn1391Asp)
n.9028A>G
c.3274A>G (p.Asn1092Asp)
n.8920A>G
n.1950A>G
n.4358A>G
n.2173A>G
c.1801A>G (p.Asn601Asp)
c.25441A>G (p.Asn8481Asp)
c.25429A>G (p.Asn8477Asp)
c.25420A>G (p.Asn8474Asp)
c.25390A>G (p.Asn8464Asp)
c.25426A>G (p.Asn8476Asp)
c.25372A>G (p.Asn8458Asp)
c.25369A>G (p.Asn8457Asp)
c.25357A>G (p.Asn8453Asp)
c.25300A>G (p.Asn8434Asp)
c.25288A>G (p.Asn8430Asp)
c.25285A>G (p.Asn8429Asp)
c.25282A>G (p.Asn8428Asp)
c.25438A>G (p.Asn8480Asp)
c.25276A>G (p.Asn8426Asp)
c.23716A>G (p.Asn7906Asp)
c.23209A>G (p.Asn7737Asp)
c.18676A>G (p.Asn6226Asp)
c.1942A>G (p.Asn648Asp)
c.25414A>G (p.Asn8472Asp)
c.25363A>G (p.Asn8455Asp)
c.25216A>G (p.Asn8406Asp)
6g.152140072T>GCA366080474SYNE1c.1870A>C (p.Asn624His)
c.25336A>C (p.Asn8446His)
c.25192A>C (p.Asn8398His)
c.738A>C
c.1071A>C
c.980A>C
c.1108A>C (p.Asn370His)
c.24121A>C (p.Asn8041His)
n.2084A>C
c.4171A>C (p.Asn1391His)
n.9028A>C
c.3274A>C (p.Asn1092His)
n.8920A>C
n.1950A>C
n.4358A>C
n.2173A>C
c.1801A>C (p.Asn601His)
c.25441A>C (p.Asn8481His)
c.25429A>C (p.Asn8477His)
c.25420A>C (p.Asn8474His)
c.25390A>C (p.Asn8464His)
c.25426A>C (p.Asn8476His)
c.25372A>C (p.Asn8458His)
c.25369A>C (p.Asn8457His)
c.25357A>C (p.Asn8453His)
c.25300A>C (p.Asn8434His)
c.25288A>C (p.Asn8430His)
c.25285A>C (p.Asn8429His)
c.25282A>C (p.Asn8428His)
c.25438A>C (p.Asn8480His)
c.25276A>C (p.Asn8426His)
c.23716A>C (p.Asn7906His)
c.23209A>C (p.Asn7737His)
c.18676A>C (p.Asn6226His)
c.1942A>C (p.Asn648His)
c.25414A>C (p.Asn8472His)
c.25363A>C (p.Asn8455His)
c.25216A>C (p.Asn8406His)
6g.152140073A>CCA366080477SYNE1c.1869T>G (p.Phe623Leu)
c.25335T>G (p.Phe8445Leu)
c.25191T>G (p.Phe8397Leu)
c.737T>G
c.1070T>G
c.979T>G
c.1107T>G (p.Phe369Leu)
c.24120T>G (p.Phe8040Leu)
n.2083T>G
c.4170T>G (p.Phe1390Leu)
n.9027T>G
c.3273T>G (p.Phe1091Leu)
n.8919T>G
n.1949T>G
n.4357T>G
n.2172T>G
c.1800T>G (p.Phe600Leu)
c.25440T>G (p.Phe8480Leu)
c.25428T>G (p.Phe8476Leu)
c.25419T>G (p.Phe8473Leu)
c.25389T>G (p.Phe8463Leu)
c.25425T>G (p.Phe8475Leu)
c.25371T>G (p.Phe8457Leu)
c.25368T>G (p.Phe8456Leu)
c.25356T>G (p.Phe8452Leu)
c.25299T>G (p.Phe8433Leu)
c.25287T>G (p.Phe8429Leu)
c.25284T>G (p.Phe8428Leu)
c.25281T>G (p.Phe8427Leu)
c.25437T>G (p.Phe8479Leu)
c.25275T>G (p.Phe8425Leu)
c.23715T>G (p.Phe7905Leu)
c.23208T>G (p.Phe7736Leu)
c.18675T>G (p.Phe6225Leu)
c.1941T>G (p.Phe647Leu)
c.25413T>G (p.Phe8471Leu)
c.25362T>G (p.Phe8454Leu)
c.25215T>G (p.Phe8405Leu)
6g.152140073A>GCA452969910SYNE1c.1869T>C (p.Phe623=)
c.25335T>C (p.Phe8445=)
c.25191T>C (p.Phe8397=)
c.737T>C
c.1070T>C
c.979T>C
c.1107T>C (p.Phe369=)
c.24120T>C (p.Phe8040=)
n.2083T>C
c.4170T>C (p.Phe1390=)
n.9027T>C
c.3273T>C (p.Phe1091=)
n.8919T>C
n.1949T>C
n.4357T>C
n.2172T>C
c.1800T>C (p.Phe600=)
c.25440T>C (p.Phe8480=)
c.25428T>C (p.Phe8476=)
c.25419T>C (p.Phe8473=)
c.25389T>C (p.Phe8463=)
c.25425T>C (p.Phe8475=)
c.25371T>C (p.Phe8457=)
c.25368T>C (p.Phe8456=)
c.25356T>C (p.Phe8452=)
c.25299T>C (p.Phe8433=)
c.25287T>C (p.Phe8429=)
c.25284T>C (p.Phe8428=)
c.25281T>C (p.Phe8427=)
c.25437T>C (p.Phe8479=)
c.25275T>C (p.Phe8425=)
c.23715T>C (p.Phe7905=)
c.23208T>C (p.Phe7736=)
c.18675T>C (p.Phe6225=)
c.1941T>C (p.Phe647=)
c.25413T>C (p.Phe8471=)
c.25362T>C (p.Phe8454=)
c.25215T>C (p.Phe8405=)
6g.152140073A>TCA366080480SYNE1c.1869T>A (p.Phe623Leu)
c.25335T>A (p.Phe8445Leu)
c.25191T>A (p.Phe8397Leu)
c.737T>A
c.1070T>A
c.979T>A
c.1107T>A (p.Phe369Leu)
c.24120T>A (p.Phe8040Leu)
n.2083T>A
c.4170T>A (p.Phe1390Leu)
n.9027T>A
c.3273T>A (p.Phe1091Leu)
n.8919T>A
n.1949T>A
n.4357T>A
n.2172T>A
c.1800T>A (p.Phe600Leu)
c.25440T>A (p.Phe8480Leu)
c.25428T>A (p.Phe8476Leu)
c.25419T>A (p.Phe8473Leu)
c.25389T>A (p.Phe8463Leu)
c.25425T>A (p.Phe8475Leu)
c.25371T>A (p.Phe8457Leu)
c.25368T>A (p.Phe8456Leu)
c.25356T>A (p.Phe8452Leu)
c.25299T>A (p.Phe8433Leu)
c.25287T>A (p.Phe8429Leu)
c.25284T>A (p.Phe8428Leu)
c.25281T>A (p.Phe8427Leu)
c.25437T>A (p.Phe8479Leu)
c.25275T>A (p.Phe8425Leu)
c.23715T>A (p.Phe7905Leu)
c.23208T>A (p.Phe7736Leu)
c.18675T>A (p.Phe6225Leu)
c.1941T>A (p.Phe647Leu)
c.25413T>A (p.Phe8471Leu)
c.25362T>A (p.Phe8454Leu)
c.25215T>A (p.Phe8405Leu)
6g.152140074A>CCA366080483SYNE1c.1868T>G (p.Phe623Cys)
c.25334T>G (p.Phe8445Cys)
c.25190T>G (p.Phe8397Cys)
c.736T>G
c.1069T>G
c.978T>G
c.1106T>G (p.Phe369Cys)
c.24119T>G (p.Phe8040Cys)
n.2082T>G
c.4169T>G (p.Phe1390Cys)
n.9026T>G
c.3272T>G (p.Phe1091Cys)
n.8918T>G
n.1948T>G
n.4356T>G
n.2171T>G
c.1799T>G (p.Phe600Cys)
c.25439T>G (p.Phe8480Cys)
c.25427T>G (p.Phe8476Cys)
c.25418T>G (p.Phe8473Cys)
c.25388T>G (p.Phe8463Cys)
c.25424T>G (p.Phe8475Cys)
c.25370T>G (p.Phe8457Cys)
c.25367T>G (p.Phe8456Cys)
c.25355T>G (p.Phe8452Cys)
c.25298T>G (p.Phe8433Cys)
c.25286T>G (p.Phe8429Cys)
c.25283T>G (p.Phe8428Cys)
c.25280T>G (p.Phe8427Cys)
c.25436T>G (p.Phe8479Cys)
c.25274T>G (p.Phe8425Cys)
c.23714T>G (p.Phe7905Cys)
c.23207T>G (p.Phe7736Cys)
c.18674T>G (p.Phe6225Cys)
c.1940T>G (p.Phe647Cys)
c.25412T>G (p.Phe8471Cys)
c.25361T>G (p.Phe8454Cys)
c.25214T>G (p.Phe8405Cys)
6g.152140074A>GCA366080489SYNE1c.1868T>C (p.Phe623Ser)
c.25334T>C (p.Phe8445Ser)
c.25190T>C (p.Phe8397Ser)
c.736T>C
c.1069T>C
c.978T>C
c.1106T>C (p.Phe369Ser)
c.24119T>C (p.Phe8040Ser)
n.2082T>C
c.4169T>C (p.Phe1390Ser)
n.9026T>C
c.3272T>C (p.Phe1091Ser)
n.8918T>C
n.1948T>C
n.4356T>C
n.2171T>C
c.1799T>C (p.Phe600Ser)
c.25439T>C (p.Phe8480Ser)
c.25427T>C (p.Phe8476Ser)
c.25418T>C (p.Phe8473Ser)
c.25388T>C (p.Phe8463Ser)
c.25424T>C (p.Phe8475Ser)
c.25370T>C (p.Phe8457Ser)
c.25367T>C (p.Phe8456Ser)
c.25355T>C (p.Phe8452Ser)
c.25298T>C (p.Phe8433Ser)
c.25286T>C (p.Phe8429Ser)
c.25283T>C (p.Phe8428Ser)
c.25280T>C (p.Phe8427Ser)
c.25436T>C (p.Phe8479Ser)
c.25274T>C (p.Phe8425Ser)
c.23714T>C (p.Phe7905Ser)
c.23207T>C (p.Phe7736Ser)
c.18674T>C (p.Phe6225Ser)
c.1940T>C (p.Phe647Ser)
c.25412T>C (p.Phe8471Ser)
c.25361T>C (p.Phe8454Ser)
c.25214T>C (p.Phe8405Ser)
6g.152140074A>TCA366080486SYNE1c.1868T>A (p.Phe623Tyr)
c.25334T>A (p.Phe8445Tyr)
c.25190T>A (p.Phe8397Tyr)
c.736T>A
c.1069T>A
c.978T>A
c.1106T>A (p.Phe369Tyr)
c.24119T>A (p.Phe8040Tyr)
n.2082T>A
c.4169T>A (p.Phe1390Tyr)
n.9026T>A
c.3272T>A (p.Phe1091Tyr)
n.8918T>A
n.1948T>A
n.4356T>A
n.2171T>A
c.1799T>A (p.Phe600Tyr)
c.25439T>A (p.Phe8480Tyr)
c.25427T>A (p.Phe8476Tyr)
c.25418T>A (p.Phe8473Tyr)
c.25388T>A (p.Phe8463Tyr)
c.25424T>A (p.Phe8475Tyr)
c.25370T>A (p.Phe8457Tyr)
c.25367T>A (p.Phe8456Tyr)
c.25355T>A (p.Phe8452Tyr)
c.25298T>A (p.Phe8433Tyr)
c.25286T>A (p.Phe8429Tyr)
c.25283T>A (p.Phe8428Tyr)
c.25280T>A (p.Phe8427Tyr)
c.25436T>A (p.Phe8479Tyr)
c.25274T>A (p.Phe8425Tyr)
c.23714T>A (p.Phe7905Tyr)
c.23207T>A (p.Phe7736Tyr)
c.18674T>A (p.Phe6225Tyr)
c.1940T>A (p.Phe647Tyr)
c.25412T>A (p.Phe8471Tyr)
c.25361T>A (p.Phe8454Tyr)
c.25214T>A (p.Phe8405Tyr)
6g.152140075A=CA1673206339SYNE1c.1867T= (p.Phe623=)
c.25333T= (p.Phe8445=)
c.25189T= (p.Phe8397=)
c.735T=
c.1068T=
c.977T=
c.1105T= (p.Phe369=)
c.24118T= (p.Phe8040=)
n.2081T=
c.4168T= (p.Phe1390=)
n.9025T=
c.3271T= (p.Phe1091=)
n.8917T=
n.1947T=
n.4355T=
n.2170T=
c.1798T= (p.Phe600=)
c.25438T= (p.Phe8480=)
c.25426T= (p.Phe8476=)
c.25417T= (p.Phe8473=)
c.25387T= (p.Phe8463=)
c.25423T= (p.Phe8475=)
c.25369T= (p.Phe8457=)
c.25366T= (p.Phe8456=)
c.25354T= (p.Phe8452=)
c.25297T= (p.Phe8433=)
c.25285T= (p.Phe8429=)
c.25282T= (p.Phe8428=)
c.25279T= (p.Phe8427=)
c.25435T= (p.Phe8479=)
c.25273T= (p.Phe8425=)
c.23713T= (p.Phe7905=)
c.23206T= (p.Phe7736=)
c.18673T= (p.Phe6225=)
c.1939T= (p.Phe647=)
c.25411T= (p.Phe8471=)
c.25360T= (p.Phe8454=)
c.25213T= (p.Phe8405=)
6g.152140075A>CCA366080492SYNE1c.1867T>G (p.Phe623Val)
c.25333T>G (p.Phe8445Val)
c.25189T>G (p.Phe8397Val)
c.735T>G
c.1068T>G
c.977T>G
c.1105T>G (p.Phe369Val)
c.24118T>G (p.Phe8040Val)
n.2081T>G
c.4168T>G (p.Phe1390Val)
n.9025T>G
c.3271T>G (p.Phe1091Val)
n.8917T>G
n.1947T>G
n.4355T>G
n.2170T>G
c.1798T>G (p.Phe600Val)
c.25438T>G (p.Phe8480Val)
c.25426T>G (p.Phe8476Val)
c.25417T>G (p.Phe8473Val)
c.25387T>G (p.Phe8463Val)
c.25423T>G (p.Phe8475Val)
c.25369T>G (p.Phe8457Val)
c.25366T>G (p.Phe8456Val)
c.25354T>G (p.Phe8452Val)
c.25297T>G (p.Phe8433Val)
c.25285T>G (p.Phe8429Val)
c.25282T>G (p.Phe8428Val)
c.25279T>G (p.Phe8427Val)
c.25435T>G (p.Phe8479Val)
c.25273T>G (p.Phe8425Val)
c.23713T>G (p.Phe7905Val)
c.23206T>G (p.Phe7736Val)
c.18673T>G (p.Phe6225Val)
c.1939T>G (p.Phe647Val)
c.25411T>G (p.Phe8471Val)
c.25360T>G (p.Phe8454Val)
c.25213T>G (p.Phe8405Val)
 dbSNP
6g.152140075A>GCA366080493SYNE1c.1867T>C (p.Phe623Leu)
c.25333T>C (p.Phe8445Leu)
c.25189T>C (p.Phe8397Leu)
c.735T>C
c.1068T>C
c.977T>C
c.1105T>C (p.Phe369Leu)
c.24118T>C (p.Phe8040Leu)
n.2081T>C
c.4168T>C (p.Phe1390Leu)
n.9025T>C
c.3271T>C (p.Phe1091Leu)
n.8917T>C
n.1947T>C
n.4355T>C
n.2170T>C
c.1798T>C (p.Phe600Leu)
c.25438T>C (p.Phe8480Leu)
c.25426T>C (p.Phe8476Leu)
c.25417T>C (p.Phe8473Leu)
c.25387T>C (p.Phe8463Leu)
c.25423T>C (p.Phe8475Leu)
c.25369T>C (p.Phe8457Leu)
c.25366T>C (p.Phe8456Leu)
c.25354T>C (p.Phe8452Leu)
c.25297T>C (p.Phe8433Leu)
c.25285T>C (p.Phe8429Leu)
c.25282T>C (p.Phe8428Leu)
c.25279T>C (p.Phe8427Leu)
c.25435T>C (p.Phe8479Leu)
c.25273T>C (p.Phe8425Leu)
c.23713T>C (p.Phe7905Leu)
c.23206T>C (p.Phe7736Leu)
c.18673T>C (p.Phe6225Leu)
c.1939T>C (p.Phe647Leu)
c.25411T>C (p.Phe8471Leu)
c.25360T>C (p.Phe8454Leu)
c.25213T>C (p.Phe8405Leu)
6g.152140075A>TCA366080498SYNE1c.1867T>A (p.Phe623Ile)
c.25333T>A (p.Phe8445Ile)
c.25189T>A (p.Phe8397Ile)
c.735T>A
c.1068T>A
c.977T>A
c.1105T>A (p.Phe369Ile)
c.24118T>A (p.Phe8040Ile)
n.2081T>A
c.4168T>A (p.Phe1390Ile)
n.9025T>A
c.3271T>A (p.Phe1091Ile)
n.8917T>A
n.1947T>A
n.4355T>A
n.2170T>A
c.1798T>A (p.Phe600Ile)
c.25438T>A (p.Phe8480Ile)
c.25426T>A (p.Phe8476Ile)
c.25417T>A (p.Phe8473Ile)
c.25387T>A (p.Phe8463Ile)
c.25423T>A (p.Phe8475Ile)
c.25369T>A (p.Phe8457Ile)
c.25366T>A (p.Phe8456Ile)
c.25354T>A (p.Phe8452Ile)
c.25297T>A (p.Phe8433Ile)
c.25285T>A (p.Phe8429Ile)
c.25282T>A (p.Phe8428Ile)
c.25279T>A (p.Phe8427Ile)
c.25435T>A (p.Phe8479Ile)
c.25273T>A (p.Phe8425Ile)
c.23713T>A (p.Phe7905Ile)
c.23206T>A (p.Phe7736Ile)
c.18673T>A (p.Phe6225Ile)
c.1939T>A (p.Phe647Ile)
c.25411T>A (p.Phe8471Ile)
c.25360T>A (p.Phe8454Ile)
c.25213T>A (p.Phe8405Ile)
6g.152140076C>ACA366080501SYNE1c.1866G>T (p.Gln622His)
c.25332G>T (p.Gln8444His)
c.25188G>T (p.Gln8396His)
c.734G>T
c.1067G>T
c.976G>T
c.1104G>T (p.Gln368His)
c.24117G>T (p.Gln8039His)
n.2080G>T
c.4167G>T (p.Gln1389His)
n.9024G>T
c.3270G>T (p.Gln1090His)
n.8916G>T
n.1946G>T
n.4354G>T
n.2169G>T
c.1797G>T (p.Gln599His)
c.25437G>T (p.Gln8479His)
c.25425G>T (p.Gln8475His)
c.25416G>T (p.Gln8472His)
c.25386G>T (p.Gln8462His)
c.25422G>T (p.Gln8474His)
c.25368G>T (p.Gln8456His)
c.25365G>T (p.Gln8455His)
c.25353G>T (p.Gln8451His)
c.25296G>T (p.Gln8432His)
c.25284G>T (p.Gln8428His)
c.25281G>T (p.Gln8427His)
c.25278G>T (p.Gln8426His)
c.25434G>T (p.Gln8478His)
c.25272G>T (p.Gln8424His)
c.23712G>T (p.Gln7904His)
c.23205G>T (p.Gln7735His)
c.18672G>T (p.Gln6224His)
c.1938G>T (p.Gln646His)
c.25410G>T (p.Gln8470His)
c.25359G>T (p.Gln8453His)
c.25212G>T (p.Gln8404His)
6g.152140076C=CA1673206341SYNE1c.1866G= (p.Gln622=)
c.25332G= (p.Gln8444=)
c.25188G= (p.Gln8396=)
c.734G=
c.1067G=
c.976G=
c.1104G= (p.Gln368=)
c.24117G= (p.Gln8039=)
n.2080G=
c.4167G= (p.Gln1389=)
n.9024G=
c.3270G= (p.Gln1090=)
n.8916G=
n.1946G=
n.4354G=
n.2169G=
c.1797G= (p.Gln599=)
c.25437G= (p.Gln8479=)
c.25425G= (p.Gln8475=)
c.25416G= (p.Gln8472=)
c.25386G= (p.Gln8462=)
c.25422G= (p.Gln8474=)
c.25368G= (p.Gln8456=)
c.25365G= (p.Gln8455=)
c.25353G= (p.Gln8451=)
c.25296G= (p.Gln8432=)
c.25284G= (p.Gln8428=)
c.25281G= (p.Gln8427=)
c.25278G= (p.Gln8426=)
c.25434G= (p.Gln8478=)
c.25272G= (p.Gln8424=)
c.23712G= (p.Gln7904=)
c.23205G= (p.Gln7735=)
c.18672G= (p.Gln6224=)
c.1938G= (p.Gln646=)
c.25410G= (p.Gln8470=)
c.25359G= (p.Gln8453=)
c.25212G= (p.Gln8404=)
6g.152140076C>GCA366080502SYNE1c.1866G>C (p.Gln622His)
c.25332G>C (p.Gln8444His)
c.25188G>C (p.Gln8396His)
c.734G>C
c.1067G>C
c.976G>C
c.1104G>C (p.Gln368His)
c.24117G>C (p.Gln8039His)
n.2080G>C
c.4167G>C (p.Gln1389His)
n.9024G>C
c.3270G>C (p.Gln1090His)
n.8916G>C
n.1946G>C
n.4354G>C
n.2169G>C
c.1797G>C (p.Gln599His)
c.25437G>C (p.Gln8479His)
c.25425G>C (p.Gln8475His)
c.25416G>C (p.Gln8472His)
c.25386G>C (p.Gln8462His)
c.25422G>C (p.Gln8474His)
c.25368G>C (p.Gln8456His)
c.25365G>C (p.Gln8455His)
c.25353G>C (p.Gln8451His)
c.25296G>C (p.Gln8432His)
c.25284G>C (p.Gln8428His)
c.25281G>C (p.Gln8427His)
c.25278G>C (p.Gln8426His)
c.25434G>C (p.Gln8478His)
c.25272G>C (p.Gln8424His)
c.23712G>C (p.Gln7904His)
c.23205G>C (p.Gln7735His)
c.18672G>C (p.Gln6224His)
c.1938G>C (p.Gln646His)
c.25410G>C (p.Gln8470His)
c.25359G>C (p.Gln8453His)
c.25212G>C (p.Gln8404His)
6g.152140076C>TCA452969914SYNE1c.1866G>A (p.Gln622=)
c.25332G>A (p.Gln8444=)
c.25188G>A (p.Gln8396=)
c.734G>A
c.1067G>A
c.976G>A
c.1104G>A (p.Gln368=)
c.24117G>A (p.Gln8039=)
n.2080G>A
c.4167G>A (p.Gln1389=)
n.9024G>A
c.3270G>A (p.Gln1090=)
n.8916G>A
n.1946G>A
n.4354G>A
n.2169G>A
c.1797G>A (p.Gln599=)
c.25437G>A (p.Gln8479=)
c.25425G>A (p.Gln8475=)
c.25416G>A (p.Gln8472=)
c.25386G>A (p.Gln8462=)
c.25422G>A (p.Gln8474=)
c.25368G>A (p.Gln8456=)
c.25365G>A (p.Gln8455=)
c.25353G>A (p.Gln8451=)
c.25296G>A (p.Gln8432=)
c.25284G>A (p.Gln8428=)
c.25281G>A (p.Gln8427=)
c.25278G>A (p.Gln8426=)
c.25434G>A (p.Gln8478=)
c.25272G>A (p.Gln8424=)
c.23712G>A (p.Gln7904=)
c.23205G>A (p.Gln7735=)
c.18672G>A (p.Gln6224=)
c.1938G>A (p.Gln646=)
c.25410G>A (p.Gln8470=)
c.25359G>A (p.Gln8453=)
c.25212G>A (p.Gln8404=)
 dbSNP
6g.152140077T>ACA366080506SYNE1c.1865A>T (p.Gln622Leu)
c.25331A>T (p.Gln8444Leu)
c.25187A>T (p.Gln8396Leu)
c.733A>T
c.1066A>T
c.975A>T
c.1103A>T (p.Gln368Leu)
c.24116A>T (p.Gln8039Leu)
n.2079A>T
c.4166A>T (p.Gln1389Leu)
n.9023A>T
c.3269A>T (p.Gln1090Leu)
n.8915A>T
n.1945A>T
n.4353A>T
n.2168A>T
c.1796A>T (p.Gln599Leu)
c.25436A>T (p.Gln8479Leu)
c.25424A>T (p.Gln8475Leu)
c.25415A>T (p.Gln8472Leu)
c.25385A>T (p.Gln8462Leu)
c.25421A>T (p.Gln8474Leu)
c.25367A>T (p.Gln8456Leu)
c.25364A>T (p.Gln8455Leu)
c.25352A>T (p.Gln8451Leu)
c.25295A>T (p.Gln8432Leu)
c.25283A>T (p.Gln8428Leu)
c.25280A>T (p.Gln8427Leu)
c.25277A>T (p.Gln8426Leu)
c.25433A>T (p.Gln8478Leu)
c.25271A>T (p.Gln8424Leu)
c.23711A>T (p.Gln7904Leu)
c.23204A>T (p.Gln7735Leu)
c.18671A>T (p.Gln6224Leu)
c.1937A>T (p.Gln646Leu)
c.25409A>T (p.Gln8470Leu)
c.25358A>T (p.Gln8453Leu)
c.25211A>T (p.Gln8404Leu)
6g.152140077T>CCA366080508SYNE1c.1865A>G (p.Gln622Arg)
c.25331A>G (p.Gln8444Arg)
c.25187A>G (p.Gln8396Arg)
c.733A>G
c.1066A>G
c.975A>G
c.1103A>G (p.Gln368Arg)
c.24116A>G (p.Gln8039Arg)
n.2079A>G
c.4166A>G (p.Gln1389Arg)
n.9023A>G
c.3269A>G (p.Gln1090Arg)
n.8915A>G
n.1945A>G
n.4353A>G
n.2168A>G
c.1796A>G (p.Gln599Arg)
c.25436A>G (p.Gln8479Arg)
c.25424A>G (p.Gln8475Arg)
c.25415A>G (p.Gln8472Arg)
c.25385A>G (p.Gln8462Arg)
c.25421A>G (p.Gln8474Arg)
c.25367A>G (p.Gln8456Arg)
c.25364A>G (p.Gln8455Arg)
c.25352A>G (p.Gln8451Arg)
c.25295A>G (p.Gln8432Arg)
c.25283A>G (p.Gln8428Arg)
c.25280A>G (p.Gln8427Arg)
c.25277A>G (p.Gln8426Arg)
c.25433A>G (p.Gln8478Arg)
c.25271A>G (p.Gln8424Arg)
c.23711A>G (p.Gln7904Arg)
c.23204A>G (p.Gln7735Arg)
c.18671A>G (p.Gln6224Arg)
c.1937A>G (p.Gln646Arg)
c.25409A>G (p.Gln8470Arg)
c.25358A>G (p.Gln8453Arg)
c.25211A>G (p.Gln8404Arg)
6g.152140077T>GCA366080511SYNE1c.1865A>C (p.Gln622Pro)
c.25331A>C (p.Gln8444Pro)
c.25187A>C (p.Gln8396Pro)
c.733A>C
c.1066A>C
c.975A>C
c.1103A>C (p.Gln368Pro)
c.24116A>C (p.Gln8039Pro)
n.2079A>C
c.4166A>C (p.Gln1389Pro)
n.9023A>C
c.3269A>C (p.Gln1090Pro)
n.8915A>C
n.1945A>C
n.4353A>C
n.2168A>C
c.1796A>C (p.Gln599Pro)
c.25436A>C (p.Gln8479Pro)
c.25424A>C (p.Gln8475Pro)
c.25415A>C (p.Gln8472Pro)
c.25385A>C (p.Gln8462Pro)
c.25421A>C (p.Gln8474Pro)
c.25367A>C (p.Gln8456Pro)
c.25364A>C (p.Gln8455Pro)
c.25352A>C (p.Gln8451Pro)
c.25295A>C (p.Gln8432Pro)
c.25283A>C (p.Gln8428Pro)
c.25280A>C (p.Gln8427Pro)
c.25277A>C (p.Gln8426Pro)
c.25433A>C (p.Gln8478Pro)
c.25271A>C (p.Gln8424Pro)
c.23711A>C (p.Gln7904Pro)
c.23204A>C (p.Gln7735Pro)
c.18671A>C (p.Gln6224Pro)
c.1937A>C (p.Gln646Pro)
c.25409A>C (p.Gln8470Pro)
c.25358A>C (p.Gln8453Pro)
c.25211A>C (p.Gln8404Pro)
6g.152140078G>ACA366080515SYNE1c.1864C>T (p.Gln622Ter)
c.25330C>T (p.Gln8444Ter)
c.25186C>T (p.Gln8396Ter)
c.732C>T
c.1065C>T
c.974C>T
c.1102C>T (p.Gln368Ter)
c.24115C>T (p.Gln8039Ter)
n.2078C>T
c.4165C>T (p.Gln1389Ter)
n.9022C>T
c.3268C>T (p.Gln1090Ter)
n.8914C>T
n.1944C>T
n.4352C>T
n.2167C>T
c.1795C>T (p.Gln599Ter)
c.25435C>T (p.Gln8479Ter)
c.25423C>T (p.Gln8475Ter)
c.25414C>T (p.Gln8472Ter)
c.25384C>T (p.Gln8462Ter)
c.25420C>T (p.Gln8474Ter)
c.25366C>T (p.Gln8456Ter)
c.25363C>T (p.Gln8455Ter)
c.25351C>T (p.Gln8451Ter)
c.25294C>T (p.Gln8432Ter)
c.25282C>T (p.Gln8428Ter)
c.25279C>T (p.Gln8427Ter)
c.25276C>T (p.Gln8426Ter)
c.25432C>T (p.Gln8478Ter)
c.25270C>T (p.Gln8424Ter)
c.23710C>T (p.Gln7904Ter)
c.23203C>T (p.Gln7735Ter)
c.18670C>T (p.Gln6224Ter)
c.1936C>T (p.Gln646Ter)
c.25408C>T (p.Gln8470Ter)
c.25357C>T (p.Gln8453Ter)
c.25210C>T (p.Gln8404Ter)
6g.152140078G>CCA366080518SYNE1c.1864C>G (p.Gln622Glu)
c.25330C>G (p.Gln8444Glu)
c.25186C>G (p.Gln8396Glu)
c.732C>G
c.1065C>G
c.974C>G
c.1102C>G (p.Gln368Glu)
c.24115C>G (p.Gln8039Glu)
n.2078C>G
c.4165C>G (p.Gln1389Glu)
n.9022C>G
c.3268C>G (p.Gln1090Glu)
n.8914C>G
n.1944C>G
n.4352C>G
n.2167C>G
c.1795C>G (p.Gln599Glu)
c.25435C>G (p.Gln8479Glu)
c.25423C>G (p.Gln8475Glu)
c.25414C>G (p.Gln8472Glu)
c.25384C>G (p.Gln8462Glu)
c.25420C>G (p.Gln8474Glu)
c.25366C>G (p.Gln8456Glu)
c.25363C>G (p.Gln8455Glu)
c.25351C>G (p.Gln8451Glu)
c.25294C>G (p.Gln8432Glu)
c.25282C>G (p.Gln8428Glu)
c.25279C>G (p.Gln8427Glu)
c.25276C>G (p.Gln8426Glu)
c.25432C>G (p.Gln8478Glu)
c.25270C>G (p.Gln8424Glu)
c.23710C>G (p.Gln7904Glu)
c.23203C>G (p.Gln7735Glu)
c.18670C>G (p.Gln6224Glu)
c.1936C>G (p.Gln646Glu)
c.25408C>G (p.Gln8470Glu)
c.25357C>G (p.Gln8453Glu)
c.25210C>G (p.Gln8404Glu)
6g.152140078G>TCA366080520SYNE1c.1864C>A (p.Gln622Lys)
c.25330C>A (p.Gln8444Lys)
c.25186C>A (p.Gln8396Lys)
c.732C>A
c.1065C>A
c.974C>A
c.1102C>A (p.Gln368Lys)
c.24115C>A (p.Gln8039Lys)
n.2078C>A
c.4165C>A (p.Gln1389Lys)
n.9022C>A
c.3268C>A (p.Gln1090Lys)
n.8914C>A
n.1944C>A
n.4352C>A
n.2167C>A
c.1795C>A (p.Gln599Lys)
c.25435C>A (p.Gln8479Lys)
c.25423C>A (p.Gln8475Lys)
c.25414C>A (p.Gln8472Lys)
c.25384C>A (p.Gln8462Lys)
c.25420C>A (p.Gln8474Lys)
c.25366C>A (p.Gln8456Lys)
c.25363C>A (p.Gln8455Lys)
c.25351C>A (p.Gln8451Lys)
c.25294C>A (p.Gln8432Lys)
c.25282C>A (p.Gln8428Lys)
c.25279C>A (p.Gln8427Lys)
c.25276C>A (p.Gln8426Lys)
c.25432C>A (p.Gln8478Lys)
c.25270C>A (p.Gln8424Lys)
c.23710C>A (p.Gln7904Lys)
c.23203C>A (p.Gln7735Lys)
c.18670C>A (p.Gln6224Lys)
c.1936C>A (p.Gln646Lys)
c.25408C>A (p.Gln8470Lys)
c.25357C>A (p.Gln8453Lys)
c.25210C>A (p.Gln8404Lys)
6g.152140079C>ACA366080526SYNE1c.1863G>T (p.Gln621His)
c.25329G>T (p.Gln8443His)
c.25185G>T (p.Gln8395His)
c.731G>T
c.1064G>T
c.973G>T
c.1101G>T (p.Gln367His)
c.24114G>T (p.Gln8038His)
n.2077G>T
c.4164G>T (p.Gln1388His)
n.9021G>T
c.3267G>T (p.Gln1089His)
n.8913G>T
n.1943G>T
n.4351G>T
n.2166G>T
c.1794G>T (p.Gln598His)
c.25434G>T (p.Gln8478His)
c.25422G>T (p.Gln8474His)
c.25413G>T (p.Gln8471His)
c.25383G>T (p.Gln8461His)
c.25419G>T (p.Gln8473His)
c.25365G>T (p.Gln8455His)
c.25362G>T (p.Gln8454His)
c.25350G>T (p.Gln8450His)
c.25293G>T (p.Gln8431His)
c.25281G>T (p.Gln8427His)
c.25278G>T (p.Gln8426His)
c.25275G>T (p.Gln8425His)
c.25431G>T (p.Gln8477His)
c.25269G>T (p.Gln8423His)
c.23709G>T (p.Gln7903His)
c.23202G>T (p.Gln7734His)
c.18669G>T (p.Gln6223His)
c.1935G>T (p.Gln645His)
c.25407G>T (p.Gln8469His)
c.25356G>T (p.Gln8452His)
c.25209G>T (p.Gln8403His)
 dbSNP gnomAD v3 gnomAD v4
6g.152140079C=CA1673206344SYNE1c.1863G= (p.Gln621=)
c.25329G= (p.Gln8443=)
c.25185G= (p.Gln8395=)
c.731G=
c.1064G=
c.973G=
c.1101G= (p.Gln367=)
c.24114G= (p.Gln8038=)
n.2077G=
c.4164G= (p.Gln1388=)
n.9021G=
c.3267G= (p.Gln1089=)
n.8913G=
n.1943G=
n.4351G=
n.2166G=
c.1794G= (p.Gln598=)
c.25434G= (p.Gln8478=)
c.25422G= (p.Gln8474=)
c.25413G= (p.Gln8471=)
c.25383G= (p.Gln8461=)
c.25419G= (p.Gln8473=)
c.25365G= (p.Gln8455=)
c.25362G= (p.Gln8454=)
c.25350G= (p.Gln8450=)
c.25293G= (p.Gln8431=)
c.25281G= (p.Gln8427=)
c.25278G= (p.Gln8426=)
c.25275G= (p.Gln8425=)
c.25431G= (p.Gln8477=)
c.25269G= (p.Gln8423=)
c.23709G= (p.Gln7903=)
c.23202G= (p.Gln7734=)
c.18669G= (p.Gln6223=)
c.1935G= (p.Gln645=)
c.25407G= (p.Gln8469=)
c.25356G= (p.Gln8452=)
c.25209G= (p.Gln8403=)
6g.152140079C>GCA366080523SYNE1c.1863G>C (p.Gln621His)
c.25329G>C (p.Gln8443His)
c.25185G>C (p.Gln8395His)
c.731G>C
c.1064G>C
c.973G>C
c.1101G>C (p.Gln367His)
c.24114G>C (p.Gln8038His)
n.2077G>C
c.4164G>C (p.Gln1388His)
n.9021G>C
c.3267G>C (p.Gln1089His)
n.8913G>C
n.1943G>C
n.4351G>C
n.2166G>C
c.1794G>C (p.Gln598His)
c.25434G>C (p.Gln8478His)
c.25422G>C (p.Gln8474His)
c.25413G>C (p.Gln8471His)
c.25383G>C (p.Gln8461His)
c.25419G>C (p.Gln8473His)
c.25365G>C (p.Gln8455His)
c.25362G>C (p.Gln8454His)
c.25350G>C (p.Gln8450His)
c.25293G>C (p.Gln8431His)
c.25281G>C (p.Gln8427His)
c.25278G>C (p.Gln8426His)
c.25275G>C (p.Gln8425His)
c.25431G>C (p.Gln8477His)
c.25269G>C (p.Gln8423His)
c.23709G>C (p.Gln7903His)
c.23202G>C (p.Gln7734His)
c.18669G>C (p.Gln6223His)
c.1935G>C (p.Gln645His)
c.25407G>C (p.Gln8469His)
c.25356G>C (p.Gln8452His)
c.25209G>C (p.Gln8403His)
6g.152140079C>TCA452969915SYNE1c.1863G>A (p.Gln621=)
c.25329G>A (p.Gln8443=)
c.25185G>A (p.Gln8395=)
c.731G>A
c.1064G>A
c.973G>A
c.1101G>A (p.Gln367=)
c.24114G>A (p.Gln8038=)
n.2077G>A
c.4164G>A (p.Gln1388=)
n.9021G>A
c.3267G>A (p.Gln1089=)
n.8913G>A
n.1943G>A
n.4351G>A
n.2166G>A
c.1794G>A (p.Gln598=)
c.25434G>A (p.Gln8478=)
c.25422G>A (p.Gln8474=)
c.25413G>A (p.Gln8471=)
c.25383G>A (p.Gln8461=)
c.25419G>A (p.Gln8473=)
c.25365G>A (p.Gln8455=)
c.25362G>A (p.Gln8454=)
c.25350G>A (p.Gln8450=)
c.25293G>A (p.Gln8431=)
c.25281G>A (p.Gln8427=)
c.25278G>A (p.Gln8426=)
c.25275G>A (p.Gln8425=)
c.25431G>A (p.Gln8477=)
c.25269G>A (p.Gln8423=)
c.23709G>A (p.Gln7903=)
c.23202G>A (p.Gln7734=)
c.18669G>A (p.Gln6223=)
c.1935G>A (p.Gln645=)
c.25407G>A (p.Gln8469=)
c.25356G>A (p.Gln8452=)
c.25209G>A (p.Gln8403=)
 dbSNP gnomAD v4
6g.152140080T>ACA366080530SYNE1c.1862A>T (p.Gln621Leu)
c.25328A>T (p.Gln8443Leu)
c.25184A>T (p.Gln8395Leu)
c.730A>T
c.1063A>T
c.972A>T
c.1100A>T (p.Gln367Leu)
c.24113A>T (p.Gln8038Leu)
n.2076A>T
c.4163A>T (p.Gln1388Leu)
n.9020A>T
c.3266A>T (p.Gln1089Leu)
n.8912A>T
n.1942A>T
n.4350A>T
n.2165A>T
c.1793A>T (p.Gln598Leu)
c.25433A>T (p.Gln8478Leu)
c.25421A>T (p.Gln8474Leu)
c.25412A>T (p.Gln8471Leu)
c.25382A>T (p.Gln8461Leu)
c.25418A>T (p.Gln8473Leu)
c.25364A>T (p.Gln8455Leu)
c.25361A>T (p.Gln8454Leu)
c.25349A>T (p.Gln8450Leu)
c.25292A>T (p.Gln8431Leu)
c.25280A>T (p.Gln8427Leu)
c.25277A>T (p.Gln8426Leu)
c.25274A>T (p.Gln8425Leu)
c.25430A>T (p.Gln8477Leu)
c.25268A>T (p.Gln8423Leu)
c.23708A>T (p.Gln7903Leu)
c.23201A>T (p.Gln7734Leu)
c.18668A>T (p.Gln6223Leu)
c.1934A>T (p.Gln645Leu)
c.25406A>T (p.Gln8469Leu)
c.25355A>T (p.Gln8452Leu)
c.25208A>T (p.Gln8403Leu)
6g.152140080T>CCA366080533SYNE1c.1862A>G (p.Gln621Arg)
c.25328A>G (p.Gln8443Arg)
c.25184A>G (p.Gln8395Arg)
c.730A>G
c.1063A>G
c.972A>G
c.1100A>G (p.Gln367Arg)
c.24113A>G (p.Gln8038Arg)
n.2076A>G
c.4163A>G (p.Gln1388Arg)
n.9020A>G
c.3266A>G (p.Gln1089Arg)
n.8912A>G
n.1942A>G
n.4350A>G
n.2165A>G
c.1793A>G (p.Gln598Arg)
c.25433A>G (p.Gln8478Arg)
c.25421A>G (p.Gln8474Arg)
c.25412A>G (p.Gln8471Arg)
c.25382A>G (p.Gln8461Arg)
c.25418A>G (p.Gln8473Arg)
c.25364A>G (p.Gln8455Arg)
c.25361A>G (p.Gln8454Arg)
c.25349A>G (p.Gln8450Arg)
c.25292A>G (p.Gln8431Arg)
c.25280A>G (p.Gln8427Arg)
c.25277A>G (p.Gln8426Arg)
c.25274A>G (p.Gln8425Arg)
c.25430A>G (p.Gln8477Arg)
c.25268A>G (p.Gln8423Arg)
c.23708A>G (p.Gln7903Arg)
c.23201A>G (p.Gln7734Arg)
c.18668A>G (p.Gln6223Arg)
c.1934A>G (p.Gln645Arg)
c.25406A>G (p.Gln8469Arg)
c.25355A>G (p.Gln8452Arg)
c.25208A>G (p.Gln8403Arg)
6g.152140080T>GCA366080536SYNE1c.1862A>C (p.Gln621Pro)
c.25328A>C (p.Gln8443Pro)
c.25184A>C (p.Gln8395Pro)
c.730A>C
c.1063A>C
c.972A>C
c.1100A>C (p.Gln367Pro)
c.24113A>C (p.Gln8038Pro)
n.2076A>C
c.4163A>C (p.Gln1388Pro)
n.9020A>C
c.3266A>C (p.Gln1089Pro)
n.8912A>C
n.1942A>C
n.4350A>C
n.2165A>C
c.1793A>C (p.Gln598Pro)
c.25433A>C (p.Gln8478Pro)
c.25421A>C (p.Gln8474Pro)
c.25412A>C (p.Gln8471Pro)
c.25382A>C (p.Gln8461Pro)
c.25418A>C (p.Gln8473Pro)
c.25364A>C (p.Gln8455Pro)
c.25361A>C (p.Gln8454Pro)
c.25349A>C (p.Gln8450Pro)
c.25292A>C (p.Gln8431Pro)
c.25280A>C (p.Gln8427Pro)
c.25277A>C (p.Gln8426Pro)
c.25274A>C (p.Gln8425Pro)
c.25430A>C (p.Gln8477Pro)
c.25268A>C (p.Gln8423Pro)
c.23708A>C (p.Gln7903Pro)
c.23201A>C (p.Gln7734Pro)
c.18668A>C (p.Gln6223Pro)
c.1934A>C (p.Gln645Pro)
c.25406A>C (p.Gln8469Pro)
c.25355A>C (p.Gln8452Pro)
c.25208A>C (p.Gln8403Pro)
6g.152140081G>ACA366080539SYNE1c.1861C>T (p.Gln621Ter)
c.25327C>T (p.Gln8443Ter)
c.25183C>T (p.Gln8395Ter)
c.729C>T
c.1062C>T
c.971C>T
c.1099C>T (p.Gln367Ter)
c.24112C>T (p.Gln8038Ter)
n.2075C>T
c.4162C>T (p.Gln1388Ter)
n.9019C>T
c.3265C>T (p.Gln1089Ter)
n.8911C>T
n.1941C>T
n.4349C>T
n.2164C>T
c.1792C>T (p.Gln598Ter)
c.25432C>T (p.Gln8478Ter)
c.25420C>T (p.Gln8474Ter)
c.25411C>T (p.Gln8471Ter)
c.25381C>T (p.Gln8461Ter)
c.25417C>T (p.Gln8473Ter)
c.25363C>T (p.Gln8455Ter)
c.25360C>T (p.Gln8454Ter)
c.25348C>T (p.Gln8450Ter)
c.25291C>T (p.Gln8431Ter)
c.25279C>T (p.Gln8427Ter)
c.25276C>T (p.Gln8426Ter)
c.25273C>T (p.Gln8425Ter)
c.25429C>T (p.Gln8477Ter)
c.25267C>T (p.Gln8423Ter)
c.23707C>T (p.Gln7903Ter)
c.23200C>T (p.Gln7734Ter)
c.18667C>T (p.Gln6223Ter)
c.1933C>T (p.Gln645Ter)
c.25405C>T (p.Gln8469Ter)
c.25354C>T (p.Gln8452Ter)
c.25207C>T (p.Gln8403Ter)
6g.152140081G>CCA366080540SYNE1c.1861C>G (p.Gln621Glu)
c.25327C>G (p.Gln8443Glu)
c.25183C>G (p.Gln8395Glu)
c.729C>G
c.1062C>G
c.971C>G
c.1099C>G (p.Gln367Glu)
c.24112C>G (p.Gln8038Glu)
n.2075C>G
c.4162C>G (p.Gln1388Glu)
n.9019C>G
c.3265C>G (p.Gln1089Glu)
n.8911C>G
n.1941C>G
n.4349C>G
n.2164C>G
c.1792C>G (p.Gln598Glu)
c.25432C>G (p.Gln8478Glu)
c.25420C>G (p.Gln8474Glu)
c.25411C>G (p.Gln8471Glu)
c.25381C>G (p.Gln8461Glu)
c.25417C>G (p.Gln8473Glu)
c.25363C>G (p.Gln8455Glu)
c.25360C>G (p.Gln8454Glu)
c.25348C>G (p.Gln8450Glu)
c.25291C>G (p.Gln8431Glu)
c.25279C>G (p.Gln8427Glu)
c.25276C>G (p.Gln8426Glu)
c.25273C>G (p.Gln8425Glu)
c.25429C>G (p.Gln8477Glu)
c.25267C>G (p.Gln8423Glu)
c.23707C>G (p.Gln7903Glu)
c.23200C>G (p.Gln7734Glu)
c.18667C>G (p.Gln6223Glu)
c.1933C>G (p.Gln645Glu)
c.25405C>G (p.Gln8469Glu)
c.25354C>G (p.Gln8452Glu)
c.25207C>G (p.Gln8403Glu)
6g.152140081G>TCA366080549SYNE1c.1861C>A (p.Gln621Lys)
c.25327C>A (p.Gln8443Lys)
c.25183C>A (p.Gln8395Lys)
c.729C>A
c.1062C>A
c.971C>A
c.1099C>A (p.Gln367Lys)
c.24112C>A (p.Gln8038Lys)
n.2075C>A
c.4162C>A (p.Gln1388Lys)
n.9019C>A
c.3265C>A (p.Gln1089Lys)
n.8911C>A
n.1941C>A
n.4349C>A
n.2164C>A
c.1792C>A (p.Gln598Lys)
c.25432C>A (p.Gln8478Lys)
c.25420C>A (p.Gln8474Lys)
c.25411C>A (p.Gln8471Lys)
c.25381C>A (p.Gln8461Lys)
c.25417C>A (p.Gln8473Lys)
c.25363C>A (p.Gln8455Lys)
c.25360C>A (p.Gln8454Lys)
c.25348C>A (p.Gln8450Lys)
c.25291C>A (p.Gln8431Lys)
c.25279C>A (p.Gln8427Lys)
c.25276C>A (p.Gln8426Lys)
c.25273C>A (p.Gln8425Lys)
c.25429C>A (p.Gln8477Lys)
c.25267C>A (p.Gln8423Lys)
c.23707C>A (p.Gln7903Lys)
c.23200C>A (p.Gln7734Lys)
c.18667C>A (p.Gln6223Lys)
c.1933C>A (p.Gln645Lys)
c.25405C>A (p.Gln8469Lys)
c.25354C>A (p.Gln8452Lys)
c.25207C>A (p.Gln8403Lys)
6g.152140082C>ACA366080553SYNE1c.1860G>T (p.Trp620Cys)
c.25326G>T (p.Trp8442Cys)
c.25182G>T (p.Trp8394Cys)
c.728G>T
c.1061G>T
c.970G>T
c.1098G>T (p.Trp366Cys)
c.24111G>T (p.Trp8037Cys)
n.2074G>T
c.4161G>T (p.Trp1387Cys)
n.9018G>T
c.3264G>T (p.Trp1088Cys)
n.8910G>T
n.1940G>T
n.4348G>T
n.2163G>T
c.1791G>T (p.Trp597Cys)
c.25431G>T (p.Trp8477Cys)
c.25419G>T (p.Trp8473Cys)
c.25410G>T (p.Trp8470Cys)
c.25380G>T (p.Trp8460Cys)
c.25416G>T (p.Trp8472Cys)
c.25362G>T (p.Trp8454Cys)
c.25359G>T (p.Trp8453Cys)
c.25347G>T (p.Trp8449Cys)
c.25290G>T (p.Trp8430Cys)
c.25278G>T (p.Trp8426Cys)
c.25275G>T (p.Trp8425Cys)
c.25272G>T (p.Trp8424Cys)
c.25428G>T (p.Trp8476Cys)
c.25266G>T (p.Trp8422Cys)
c.23706G>T (p.Trp7902Cys)
c.23199G>T (p.Trp7733Cys)
c.18666G>T (p.Trp6222Cys)
c.1932G>T (p.Trp644Cys)
c.25404G>T (p.Trp8468Cys)
c.25353G>T (p.Trp8451Cys)
c.25206G>T (p.Trp8402Cys)
6g.152140082C=CA1673206347SYNE1c.1860G= (p.Trp620=)
c.25326G= (p.Trp8442=)
c.25182G= (p.Trp8394=)
c.728G=
c.1061G=
c.970G=
c.1098G= (p.Trp366=)
c.24111G= (p.Trp8037=)
n.2074G=
c.4161G= (p.Trp1387=)
n.9018G=
c.3264G= (p.Trp1088=)
n.8910G=
n.1940G=
n.4348G=
n.2163G=
c.1791G= (p.Trp597=)
c.25431G= (p.Trp8477=)
c.25419G= (p.Trp8473=)
c.25410G= (p.Trp8470=)
c.25380G= (p.Trp8460=)
c.25416G= (p.Trp8472=)
c.25362G= (p.Trp8454=)
c.25359G= (p.Trp8453=)
c.25347G= (p.Trp8449=)
c.25290G= (p.Trp8430=)
c.25278G= (p.Trp8426=)
c.25275G= (p.Trp8425=)
c.25272G= (p.Trp8424=)
c.25428G= (p.Trp8476=)
c.25266G= (p.Trp8422=)
c.23706G= (p.Trp7902=)
c.23199G= (p.Trp7733=)
c.18666G= (p.Trp6222=)
c.1932G= (p.Trp644=)
c.25404G= (p.Trp8468=)
c.25353G= (p.Trp8451=)
c.25206G= (p.Trp8402=)
6g.152140082C>GCA366080556SYNE1c.1860G>C (p.Trp620Cys)
c.25326G>C (p.Trp8442Cys)
c.25182G>C (p.Trp8394Cys)
c.728G>C
c.1061G>C
c.970G>C
c.1098G>C (p.Trp366Cys)
c.24111G>C (p.Trp8037Cys)
n.2074G>C
c.4161G>C (p.Trp1387Cys)
n.9018G>C
c.3264G>C (p.Trp1088Cys)
n.8910G>C
n.1940G>C
n.4348G>C
n.2163G>C
c.1791G>C (p.Trp597Cys)
c.25431G>C (p.Trp8477Cys)
c.25419G>C (p.Trp8473Cys)
c.25410G>C (p.Trp8470Cys)
c.25380G>C (p.Trp8460Cys)
c.25416G>C (p.Trp8472Cys)
c.25362G>C (p.Trp8454Cys)
c.25359G>C (p.Trp8453Cys)
c.25347G>C (p.Trp8449Cys)
c.25290G>C (p.Trp8430Cys)
c.25278G>C (p.Trp8426Cys)
c.25275G>C (p.Trp8425Cys)
c.25272G>C (p.Trp8424Cys)
c.25428G>C (p.Trp8476Cys)
c.25266G>C (p.Trp8422Cys)
c.23706G>C (p.Trp7902Cys)
c.23199G>C (p.Trp7733Cys)
c.18666G>C (p.Trp6222Cys)
c.1932G>C (p.Trp644Cys)
c.25404G>C (p.Trp8468Cys)
c.25353G>C (p.Trp8451Cys)
c.25206G>C (p.Trp8402Cys)
6g.152140082C>TCA4052866SYNE1c.1860G>A (p.Trp620Ter)
c.25326G>A (p.Trp8442Ter)
c.25182G>A (p.Trp8394Ter)
c.728G>A
c.1061G>A
c.970G>A
c.1098G>A (p.Trp366Ter)
c.24111G>A (p.Trp8037Ter)
n.2074G>A
c.4161G>A (p.Trp1387Ter)
n.9018G>A
c.3264G>A (p.Trp1088Ter)
n.8910G>A
n.1940G>A
n.4348G>A
n.2163G>A
c.1791G>A (p.Trp597Ter)
c.25431G>A (p.Trp8477Ter)
c.25419G>A (p.Trp8473Ter)
c.25410G>A (p.Trp8470Ter)
c.25380G>A (p.Trp8460Ter)
c.25416G>A (p.Trp8472Ter)
c.25362G>A (p.Trp8454Ter)
c.25359G>A (p.Trp8453Ter)
c.25347G>A (p.Trp8449Ter)
c.25290G>A (p.Trp8430Ter)
c.25278G>A (p.Trp8426Ter)
c.25275G>A (p.Trp8425Ter)
c.25272G>A (p.Trp8424Ter)
c.25428G>A (p.Trp8476Ter)
c.25266G>A (p.Trp8422Ter)
c.23706G>A (p.Trp7902Ter)
c.23199G>A (p.Trp7733Ter)
c.18666G>A (p.Trp6222Ter)
c.1932G>A (p.Trp644Ter)
c.25404G>A (p.Trp8468Ter)
c.25353G>A (p.Trp8451Ter)
c.25206G>A (p.Trp8402Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152140083C>ACA366080561SYNE1c.1859G>T (p.Trp620Leu)
c.25325G>T (p.Trp8442Leu)
c.25181G>T (p.Trp8394Leu)
c.727G>T
c.1060G>T
c.969G>T
c.1097G>T (p.Trp366Leu)
c.24110G>T (p.Trp8037Leu)
n.2073G>T
c.4160G>T (p.Trp1387Leu)
n.9017G>T
c.3263G>T (p.Trp1088Leu)
n.8909G>T
n.1939G>T
n.4347G>T
n.2162G>T
c.1790G>T (p.Trp597Leu)
c.25430G>T (p.Trp8477Leu)
c.25418G>T (p.Trp8473Leu)
c.25409G>T (p.Trp8470Leu)
c.25379G>T (p.Trp8460Leu)
c.25415G>T (p.Trp8472Leu)
c.25361G>T (p.Trp8454Leu)
c.25358G>T (p.Trp8453Leu)
c.25346G>T (p.Trp8449Leu)
c.25289G>T (p.Trp8430Leu)
c.25277G>T (p.Trp8426Leu)
c.25274G>T (p.Trp8425Leu)
c.25271G>T (p.Trp8424Leu)
c.25427G>T (p.Trp8476Leu)
c.25265G>T (p.Trp8422Leu)
c.23705G>T (p.Trp7902Leu)
c.23198G>T (p.Trp7733Leu)
c.18665G>T (p.Trp6222Leu)
c.1931G>T (p.Trp644Leu)
c.25403G>T (p.Trp8468Leu)
c.25352G>T (p.Trp8451Leu)
c.25205G>T (p.Trp8402Leu)
6g.152140083C>GCA366080564SYNE1c.1859G>C (p.Trp620Ser)
c.25325G>C (p.Trp8442Ser)
c.25181G>C (p.Trp8394Ser)
c.727G>C
c.1060G>C
c.969G>C
c.1097G>C (p.Trp366Ser)
c.24110G>C (p.Trp8037Ser)
n.2073G>C
c.4160G>C (p.Trp1387Ser)
n.9017G>C
c.3263G>C (p.Trp1088Ser)
n.8909G>C
n.1939G>C
n.4347G>C
n.2162G>C
c.1790G>C (p.Trp597Ser)
c.25430G>C (p.Trp8477Ser)
c.25418G>C (p.Trp8473Ser)
c.25409G>C (p.Trp8470Ser)
c.25379G>C (p.Trp8460Ser)
c.25415G>C (p.Trp8472Ser)
c.25361G>C (p.Trp8454Ser)
c.25358G>C (p.Trp8453Ser)
c.25346G>C (p.Trp8449Ser)
c.25289G>C (p.Trp8430Ser)
c.25277G>C (p.Trp8426Ser)
c.25274G>C (p.Trp8425Ser)
c.25271G>C (p.Trp8424Ser)
c.25427G>C (p.Trp8476Ser)
c.25265G>C (p.Trp8422Ser)
c.23705G>C (p.Trp7902Ser)
c.23198G>C (p.Trp7733Ser)
c.18665G>C (p.Trp6222Ser)
c.1931G>C (p.Trp644Ser)
c.25403G>C (p.Trp8468Ser)
c.25352G>C (p.Trp8451Ser)
c.25205G>C (p.Trp8402Ser)
6g.152140083C>TCA366080566SYNE1c.1859G>A (p.Trp620Ter)
c.25325G>A (p.Trp8442Ter)
c.25181G>A (p.Trp8394Ter)
c.727G>A
c.1060G>A
c.969G>A
c.1097G>A (p.Trp366Ter)
c.24110G>A (p.Trp8037Ter)
n.2073G>A
c.4160G>A (p.Trp1387Ter)
n.9017G>A
c.3263G>A (p.Trp1088Ter)
n.8909G>A
n.1939G>A
n.4347G>A
n.2162G>A
c.1790G>A (p.Trp597Ter)
c.25430G>A (p.Trp8477Ter)
c.25418G>A (p.Trp8473Ter)
c.25409G>A (p.Trp8470Ter)
c.25379G>A (p.Trp8460Ter)
c.25415G>A (p.Trp8472Ter)
c.25361G>A (p.Trp8454Ter)
c.25358G>A (p.Trp8453Ter)
c.25346G>A (p.Trp8449Ter)
c.25289G>A (p.Trp8430Ter)
c.25277G>A (p.Trp8426Ter)
c.25274G>A (p.Trp8425Ter)
c.25271G>A (p.Trp8424Ter)
c.25427G>A (p.Trp8476Ter)
c.25265G>A (p.Trp8422Ter)
c.23705G>A (p.Trp7902Ter)
c.23198G>A (p.Trp7733Ter)
c.18665G>A (p.Trp6222Ter)
c.1931G>A (p.Trp644Ter)
c.25403G>A (p.Trp8468Ter)
c.25352G>A (p.Trp8451Ter)
c.25205G>A (p.Trp8402Ter)
6g.152140084A=CA1673206351SYNE1c.1858T= (p.Trp620=)
c.25324T= (p.Trp8442=)
c.25180T= (p.Trp8394=)
c.726T=
c.1059T=
c.968T=
c.1096T= (p.Trp366=)
c.24109T= (p.Trp8037=)
n.2072T=
c.4159T= (p.Trp1387=)
n.9016T=
c.3262T= (p.Trp1088=)
n.8908T=
n.1938T=
n.4346T=
n.2161T=
c.1789T= (p.Trp597=)
c.25429T= (p.Trp8477=)
c.25417T= (p.Trp8473=)
c.25408T= (p.Trp8470=)
c.25378T= (p.Trp8460=)
c.25414T= (p.Trp8472=)
c.25360T= (p.Trp8454=)
c.25357T= (p.Trp8453=)
c.25345T= (p.Trp8449=)
c.25288T= (p.Trp8430=)
c.25276T= (p.Trp8426=)
c.25273T= (p.Trp8425=)
c.25270T= (p.Trp8424=)
c.25426T= (p.Trp8476=)
c.25264T= (p.Trp8422=)
c.23704T= (p.Trp7902=)
c.23197T= (p.Trp7733=)
c.18664T= (p.Trp6222=)
c.1930T= (p.Trp644=)
c.25402T= (p.Trp8468=)
c.25351T= (p.Trp8451=)
c.25204T= (p.Trp8402=)
6g.152140084A>CCA366080572SYNE1c.1858T>G (p.Trp620Gly)
c.25324T>G (p.Trp8442Gly)
c.25180T>G (p.Trp8394Gly)
c.726T>G
c.1059T>G
c.968T>G
c.1096T>G (p.Trp366Gly)
c.24109T>G (p.Trp8037Gly)
n.2072T>G
c.4159T>G (p.Trp1387Gly)
n.9016T>G
c.3262T>G (p.Trp1088Gly)
n.8908T>G
n.1938T>G
n.4346T>G
n.2161T>G
c.1789T>G (p.Trp597Gly)
c.25429T>G (p.Trp8477Gly)
c.25417T>G (p.Trp8473Gly)
c.25408T>G (p.Trp8470Gly)
c.25378T>G (p.Trp8460Gly)
c.25414T>G (p.Trp8472Gly)
c.25360T>G (p.Trp8454Gly)
c.25357T>G (p.Trp8453Gly)
c.25345T>G (p.Trp8449Gly)
c.25288T>G (p.Trp8430Gly)
c.25276T>G (p.Trp8426Gly)
c.25273T>G (p.Trp8425Gly)
c.25270T>G (p.Trp8424Gly)
c.25426T>G (p.Trp8476Gly)
c.25264T>G (p.Trp8422Gly)
c.23704T>G (p.Trp7902Gly)
c.23197T>G (p.Trp7733Gly)
c.18664T>G (p.Trp6222Gly)
c.1930T>G (p.Trp644Gly)
c.25402T>G (p.Trp8468Gly)
c.25351T>G (p.Trp8451Gly)
c.25204T>G (p.Trp8402Gly)
6g.152140084A>GCA366080576SYNE1c.1858T>C (p.Trp620Arg)
c.25324T>C (p.Trp8442Arg)
c.25180T>C (p.Trp8394Arg)
c.726T>C
c.1059T>C
c.968T>C
c.1096T>C (p.Trp366Arg)
c.24109T>C (p.Trp8037Arg)
n.2072T>C
c.4159T>C (p.Trp1387Arg)
n.9016T>C
c.3262T>C (p.Trp1088Arg)
n.8908T>C
n.1938T>C
n.4346T>C
n.2161T>C
c.1789T>C (p.Trp597Arg)
c.25429T>C (p.Trp8477Arg)
c.25417T>C (p.Trp8473Arg)
c.25408T>C (p.Trp8470Arg)
c.25378T>C (p.Trp8460Arg)
c.25414T>C (p.Trp8472Arg)
c.25360T>C (p.Trp8454Arg)
c.25357T>C (p.Trp8453Arg)
c.25345T>C (p.Trp8449Arg)
c.25288T>C (p.Trp8430Arg)
c.25276T>C (p.Trp8426Arg)
c.25273T>C (p.Trp8425Arg)
c.25270T>C (p.Trp8424Arg)
c.25426T>C (p.Trp8476Arg)
c.25264T>C (p.Trp8422Arg)
c.23704T>C (p.Trp7902Arg)
c.23197T>C (p.Trp7733Arg)
c.18664T>C (p.Trp6222Arg)
c.1930T>C (p.Trp644Arg)
c.25402T>C (p.Trp8468Arg)
c.25351T>C (p.Trp8451Arg)
c.25204T>C (p.Trp8402Arg)
 dbSNP
6g.152140084A>TCA366080570SYNE1c.1858T>A (p.Trp620Arg)
c.25324T>A (p.Trp8442Arg)
c.25180T>A (p.Trp8394Arg)
c.726T>A
c.1059T>A
c.968T>A
c.1096T>A (p.Trp366Arg)
c.24109T>A (p.Trp8037Arg)
n.2072T>A
c.4159T>A (p.Trp1387Arg)
n.9016T>A
c.3262T>A (p.Trp1088Arg)
n.8908T>A
n.1938T>A
n.4346T>A
n.2161T>A
c.1789T>A (p.Trp597Arg)
c.25429T>A (p.Trp8477Arg)
c.25417T>A (p.Trp8473Arg)
c.25408T>A (p.Trp8470Arg)
c.25378T>A (p.Trp8460Arg)
c.25414T>A (p.Trp8472Arg)
c.25360T>A (p.Trp8454Arg)
c.25357T>A (p.Trp8453Arg)
c.25345T>A (p.Trp8449Arg)
c.25288T>A (p.Trp8430Arg)
c.25276T>A (p.Trp8426Arg)
c.25273T>A (p.Trp8425Arg)
c.25270T>A (p.Trp8424Arg)
c.25426T>A (p.Trp8476Arg)
c.25264T>A (p.Trp8422Arg)
c.23704T>A (p.Trp7902Arg)
c.23197T>A (p.Trp7733Arg)
c.18664T>A (p.Trp6222Arg)
c.1930T>A (p.Trp644Arg)
c.25402T>A (p.Trp8468Arg)
c.25351T>A (p.Trp8451Arg)
c.25204T>A (p.Trp8402Arg)
6g.152140085C>ACA366080580SYNE1c.1857G>T (p.Lys619Asn)
c.25323G>T (p.Lys8441Asn)
c.25179G>T (p.Lys8393Asn)
c.725G>T
c.1058G>T
c.967G>T
c.1095G>T (p.Lys365Asn)
c.24108G>T (p.Lys8036Asn)
n.2071G>T
c.4158G>T (p.Lys1386Asn)
n.9015G>T
c.3261G>T (p.Lys1087Asn)
n.8907G>T
n.1937G>T
n.4345G>T
n.2160G>T
c.1788G>T (p.Lys596Asn)
c.25428G>T (p.Lys8476Asn)
c.25416G>T (p.Lys8472Asn)
c.25407G>T (p.Lys8469Asn)
c.25377G>T (p.Lys8459Asn)
c.25413G>T (p.Lys8471Asn)
c.25359G>T (p.Lys8453Asn)
c.25356G>T (p.Lys8452Asn)
c.25344G>T (p.Lys8448Asn)
c.25287G>T (p.Lys8429Asn)
c.25275G>T (p.Lys8425Asn)
c.25272G>T (p.Lys8424Asn)
c.25269G>T (p.Lys8423Asn)
c.25425G>T (p.Lys8475Asn)
c.25263G>T (p.Lys8421Asn)
c.23703G>T (p.Lys7901Asn)
c.23196G>T (p.Lys7732Asn)
c.18663G>T (p.Lys6221Asn)
c.1929G>T (p.Lys643Asn)
c.25401G>T (p.Lys8467Asn)
c.25350G>T (p.Lys8450Asn)
c.25203G>T (p.Lys8401Asn)
6g.152140085C>GCA366080582SYNE1c.1857G>C (p.Lys619Asn)
c.25323G>C (p.Lys8441Asn)
c.25179G>C (p.Lys8393Asn)
c.725G>C
c.1058G>C
c.967G>C
c.1095G>C (p.Lys365Asn)
c.24108G>C (p.Lys8036Asn)
n.2071G>C
c.4158G>C (p.Lys1386Asn)
n.9015G>C
c.3261G>C (p.Lys1087Asn)
n.8907G>C
n.1937G>C
n.4345G>C
n.2160G>C
c.1788G>C (p.Lys596Asn)
c.25428G>C (p.Lys8476Asn)
c.25416G>C (p.Lys8472Asn)
c.25407G>C (p.Lys8469Asn)
c.25377G>C (p.Lys8459Asn)
c.25413G>C (p.Lys8471Asn)
c.25359G>C (p.Lys8453Asn)
c.25356G>C (p.Lys8452Asn)
c.25344G>C (p.Lys8448Asn)
c.25287G>C (p.Lys8429Asn)
c.25275G>C (p.Lys8425Asn)
c.25272G>C (p.Lys8424Asn)
c.25269G>C (p.Lys8423Asn)
c.25425G>C (p.Lys8475Asn)
c.25263G>C (p.Lys8421Asn)
c.23703G>C (p.Lys7901Asn)
c.23196G>C (p.Lys7732Asn)
c.18663G>C (p.Lys6221Asn)
c.1929G>C (p.Lys643Asn)
c.25401G>C (p.Lys8467Asn)
c.25350G>C (p.Lys8450Asn)
c.25203G>C (p.Lys8401Asn)
6g.152140085C>TCA452969922SYNE1c.1857G>A (p.Lys619=)
c.25323G>A (p.Lys8441=)
c.25179G>A (p.Lys8393=)
c.725G>A
c.1058G>A
c.967G>A
c.1095G>A (p.Lys365=)
c.24108G>A (p.Lys8036=)
n.2071G>A
c.4158G>A (p.Lys1386=)
n.9015G>A
c.3261G>A (p.Lys1087=)
n.8907G>A
n.1937G>A
n.4345G>A
n.2160G>A
c.1788G>A (p.Lys596=)
c.25428G>A (p.Lys8476=)
c.25416G>A (p.Lys8472=)
c.25407G>A (p.Lys8469=)
c.25377G>A (p.Lys8459=)
c.25413G>A (p.Lys8471=)
c.25359G>A (p.Lys8453=)
c.25356G>A (p.Lys8452=)
c.25344G>A (p.Lys8448=)
c.25287G>A (p.Lys8429=)
c.25275G>A (p.Lys8425=)
c.25272G>A (p.Lys8424=)
c.25269G>A (p.Lys8423=)
c.25425G>A (p.Lys8475=)
c.25263G>A (p.Lys8421=)
c.23703G>A (p.Lys7901=)
c.23196G>A (p.Lys7732=)
c.18663G>A (p.Lys6221=)
c.1929G>A (p.Lys643=)
c.25401G>A (p.Lys8467=)
c.25350G>A (p.Lys8450=)
c.25203G>A (p.Lys8401=)
6g.152140086T>ACA366080584SYNE1c.1856A>T (p.Lys619Met)
c.25322A>T (p.Lys8441Met)
c.25178A>T (p.Lys8393Met)
c.724A>T
c.1057A>T
c.966A>T
c.1094A>T (p.Lys365Met)
c.24107A>T (p.Lys8036Met)
n.2070A>T
c.4157A>T (p.Lys1386Met)
n.9014A>T
c.3260A>T (p.Lys1087Met)
n.8906A>T
n.1936A>T
n.4344A>T
n.2159A>T
c.1787A>T (p.Lys596Met)
c.25427A>T (p.Lys8476Met)
c.25415A>T (p.Lys8472Met)
c.25406A>T (p.Lys8469Met)
c.25376A>T (p.Lys8459Met)
c.25412A>T (p.Lys8471Met)
c.25358A>T (p.Lys8453Met)
c.25355A>T (p.Lys8452Met)
c.25343A>T (p.Lys8448Met)
c.25286A>T (p.Lys8429Met)
c.25274A>T (p.Lys8425Met)
c.25271A>T (p.Lys8424Met)
c.25268A>T (p.Lys8423Met)
c.25424A>T (p.Lys8475Met)
c.25262A>T (p.Lys8421Met)
c.23702A>T (p.Lys7901Met)
c.23195A>T (p.Lys7732Met)
c.18662A>T (p.Lys6221Met)
c.1928A>T (p.Lys643Met)
c.25400A>T (p.Lys8467Met)
c.25349A>T (p.Lys8450Met)
c.25202A>T (p.Lys8401Met)
6g.152140086T>CCA366080587SYNE1c.1856A>G (p.Lys619Arg)
c.25322A>G (p.Lys8441Arg)
c.25178A>G (p.Lys8393Arg)
c.724A>G
c.1057A>G
c.966A>G
c.1094A>G (p.Lys365Arg)
c.24107A>G (p.Lys8036Arg)
n.2070A>G
c.4157A>G (p.Lys1386Arg)
n.9014A>G
c.3260A>G (p.Lys1087Arg)
n.8906A>G
n.1936A>G
n.4344A>G
n.2159A>G
c.1787A>G (p.Lys596Arg)
c.25427A>G (p.Lys8476Arg)
c.25415A>G (p.Lys8472Arg)
c.25406A>G (p.Lys8469Arg)
c.25376A>G (p.Lys8459Arg)
c.25412A>G (p.Lys8471Arg)
c.25358A>G (p.Lys8453Arg)
c.25355A>G (p.Lys8452Arg)
c.25343A>G (p.Lys8448Arg)
c.25286A>G (p.Lys8429Arg)
c.25274A>G (p.Lys8425Arg)
c.25271A>G (p.Lys8424Arg)
c.25268A>G (p.Lys8423Arg)
c.25424A>G (p.Lys8475Arg)
c.25262A>G (p.Lys8421Arg)
c.23702A>G (p.Lys7901Arg)
c.23195A>G (p.Lys7732Arg)
c.18662A>G (p.Lys6221Arg)
c.1928A>G (p.Lys643Arg)
c.25400A>G (p.Lys8467Arg)
c.25349A>G (p.Lys8450Arg)
c.25202A>G (p.Lys8401Arg)
6g.152140086T>GCA366080589SYNE1c.1856A>C (p.Lys619Thr)
c.25322A>C (p.Lys8441Thr)
c.25178A>C (p.Lys8393Thr)
c.724A>C
c.1057A>C
c.966A>C
c.1094A>C (p.Lys365Thr)
c.24107A>C (p.Lys8036Thr)
n.2070A>C
c.4157A>C (p.Lys1386Thr)
n.9014A>C
c.3260A>C (p.Lys1087Thr)
n.8906A>C
n.1936A>C
n.4344A>C
n.2159A>C
c.1787A>C (p.Lys596Thr)
c.25427A>C (p.Lys8476Thr)
c.25415A>C (p.Lys8472Thr)
c.25406A>C (p.Lys8469Thr)
c.25376A>C (p.Lys8459Thr)
c.25412A>C (p.Lys8471Thr)
c.25358A>C (p.Lys8453Thr)
c.25355A>C (p.Lys8452Thr)
c.25343A>C (p.Lys8448Thr)
c.25286A>C (p.Lys8429Thr)
c.25274A>C (p.Lys8425Thr)
c.25271A>C (p.Lys8424Thr)
c.25268A>C (p.Lys8423Thr)
c.25424A>C (p.Lys8475Thr)
c.25262A>C (p.Lys8421Thr)
c.23702A>C (p.Lys7901Thr)
c.23195A>C (p.Lys7732Thr)
c.18662A>C (p.Lys6221Thr)
c.1928A>C (p.Lys643Thr)
c.25400A>C (p.Lys8467Thr)
c.25349A>C (p.Lys8450Thr)
c.25202A>C (p.Lys8401Thr)
6g.152140087T>ACA366080597SYNE1c.1855A>T (p.Lys619Ter)
c.25321A>T (p.Lys8441Ter)
c.25177A>T (p.Lys8393Ter)
c.723A>T
c.1056A>T
c.965A>T
c.1093A>T (p.Lys365Ter)
c.24106A>T (p.Lys8036Ter)
n.2069A>T
c.4156A>T (p.Lys1386Ter)
n.9013A>T
c.3259A>T (p.Lys1087Ter)
n.8905A>T
n.1935A>T
n.4343A>T
n.2158A>T
c.1786A>T (p.Lys596Ter)
c.25426A>T (p.Lys8476Ter)
c.25414A>T (p.Lys8472Ter)
c.25405A>T (p.Lys8469Ter)
c.25375A>T (p.Lys8459Ter)
c.25411A>T (p.Lys8471Ter)
c.25357A>T (p.Lys8453Ter)
c.25354A>T (p.Lys8452Ter)
c.25342A>T (p.Lys8448Ter)
c.25285A>T (p.Lys8429Ter)
c.25273A>T (p.Lys8425Ter)
c.25270A>T (p.Lys8424Ter)
c.25267A>T (p.Lys8423Ter)
c.25423A>T (p.Lys8475Ter)
c.25261A>T (p.Lys8421Ter)
c.23701A>T (p.Lys7901Ter)
c.23194A>T (p.Lys7732Ter)
c.18661A>T (p.Lys6221Ter)
c.1927A>T (p.Lys643Ter)
c.25399A>T (p.Lys8467Ter)
c.25348A>T (p.Lys8450Ter)
c.25201A>T (p.Lys8401Ter)
6g.152140087T>CCA366080592SYNE1c.1855A>G (p.Lys619Glu)
c.25321A>G (p.Lys8441Glu)
c.25177A>G (p.Lys8393Glu)
c.723A>G
c.1056A>G
c.965A>G
c.1093A>G (p.Lys365Glu)
c.24106A>G (p.Lys8036Glu)
n.2069A>G
c.4156A>G (p.Lys1386Glu)
n.9013A>G
c.3259A>G (p.Lys1087Glu)
n.8905A>G
n.1935A>G
n.4343A>G
n.2158A>G
c.1786A>G (p.Lys596Glu)
c.25426A>G (p.Lys8476Glu)
c.25414A>G (p.Lys8472Glu)
c.25405A>G (p.Lys8469Glu)
c.25375A>G (p.Lys8459Glu)
c.25411A>G (p.Lys8471Glu)
c.25357A>G (p.Lys8453Glu)
c.25354A>G (p.Lys8452Glu)
c.25342A>G (p.Lys8448Glu)
c.25285A>G (p.Lys8429Glu)
c.25273A>G (p.Lys8425Glu)
c.25270A>G (p.Lys8424Glu)
c.25267A>G (p.Lys8423Glu)
c.25423A>G (p.Lys8475Glu)
c.25261A>G (p.Lys8421Glu)
c.23701A>G (p.Lys7901Glu)
c.23194A>G (p.Lys7732Glu)
c.18661A>G (p.Lys6221Glu)
c.1927A>G (p.Lys643Glu)
c.25399A>G (p.Lys8467Glu)
c.25348A>G (p.Lys8450Glu)
c.25201A>G (p.Lys8401Glu)
6g.152140087T>GCA366080594SYNE1c.1855A>C (p.Lys619Gln)
c.25321A>C (p.Lys8441Gln)
c.25177A>C (p.Lys8393Gln)
c.723A>C
c.1056A>C
c.965A>C
c.1093A>C (p.Lys365Gln)
c.24106A>C (p.Lys8036Gln)
n.2069A>C
c.4156A>C (p.Lys1386Gln)
n.9013A>C
c.3259A>C (p.Lys1087Gln)
n.8905A>C
n.1935A>C
n.4343A>C
n.2158A>C
c.1786A>C (p.Lys596Gln)
c.25426A>C (p.Lys8476Gln)
c.25414A>C (p.Lys8472Gln)
c.25405A>C (p.Lys8469Gln)
c.25375A>C (p.Lys8459Gln)
c.25411A>C (p.Lys8471Gln)
c.25357A>C (p.Lys8453Gln)
c.25354A>C (p.Lys8452Gln)
c.25342A>C (p.Lys8448Gln)
c.25285A>C (p.Lys8429Gln)
c.25273A>C (p.Lys8425Gln)
c.25270A>C (p.Lys8424Gln)
c.25267A>C (p.Lys8423Gln)
c.25423A>C (p.Lys8475Gln)
c.25261A>C (p.Lys8421Gln)
c.23701A>C (p.Lys7901Gln)
c.23194A>C (p.Lys7732Gln)
c.18661A>C (p.Lys6221Gln)
c.1927A>C (p.Lys643Gln)
c.25399A>C (p.Lys8467Gln)
c.25348A>C (p.Lys8450Gln)
c.25201A>C (p.Lys8401Gln)
6g.152140088C>ACA366080600SYNE1c.1854G>T (p.Gln618His)
c.25320G>T (p.Gln8440His)
c.25176G>T (p.Gln8392His)
c.722G>T
c.1055G>T
c.964G>T
c.1092G>T (p.Gln364His)
c.24105G>T (p.Gln8035His)
n.2068G>T
c.4155G>T (p.Gln1385His)
n.9012G>T
c.3258G>T (p.Gln1086His)
n.8904G>T
n.1934G>T
n.4342G>T
n.2157G>T
c.1785G>T (p.Gln595His)
c.25425G>T (p.Gln8475His)
c.25413G>T (p.Gln8471His)
c.25404G>T (p.Gln8468His)
c.25374G>T (p.Gln8458His)
c.25410G>T (p.Gln8470His)
c.25356G>T (p.Gln8452His)
c.25353G>T (p.Gln8451His)
c.25341G>T (p.Gln8447His)
c.25284G>T (p.Gln8428His)
c.25272G>T (p.Gln8424His)
c.25269G>T (p.Gln8423His)
c.25266G>T (p.Gln8422His)
c.25422G>T (p.Gln8474His)
c.25260G>T (p.Gln8420His)
c.23700G>T (p.Gln7900His)
c.23193G>T (p.Gln7731His)
c.18660G>T (p.Gln6220His)
c.1926G>T (p.Gln642His)
c.25398G>T (p.Gln8466His)
c.25347G>T (p.Gln8449His)
c.25200G>T (p.Gln8400His)
 gnomAD v4
6g.152140088C=CA1673206355SYNE1c.1854G= (p.Gln618=)
c.25320G= (p.Gln8440=)
c.25176G= (p.Gln8392=)
c.722G=
c.1055G=
c.964G=
c.1092G= (p.Gln364=)
c.24105G= (p.Gln8035=)
n.2068G=
c.4155G= (p.Gln1385=)
n.9012G=
c.3258G= (p.Gln1086=)
n.8904G=
n.1934G=
n.4342G=
n.2157G=
c.1785G= (p.Gln595=)
c.25425G= (p.Gln8475=)
c.25413G= (p.Gln8471=)
c.25404G= (p.Gln8468=)
c.25374G= (p.Gln8458=)
c.25410G= (p.Gln8470=)
c.25356G= (p.Gln8452=)
c.25353G= (p.Gln8451=)
c.25341G= (p.Gln8447=)
c.25284G= (p.Gln8428=)
c.25272G= (p.Gln8424=)
c.25269G= (p.Gln8423=)
c.25266G= (p.Gln8422=)
c.25422G= (p.Gln8474=)
c.25260G= (p.Gln8420=)
c.23700G= (p.Gln7900=)
c.23193G= (p.Gln7731=)
c.18660G= (p.Gln6220=)
c.1926G= (p.Gln642=)
c.25398G= (p.Gln8466=)
c.25347G= (p.Gln8449=)
c.25200G= (p.Gln8400=)
6g.152140088C>GCA4052867SYNE1c.1854G>C (p.Gln618His)
c.25320G>C (p.Gln8440His)
c.25176G>C (p.Gln8392His)
c.722G>C
c.1055G>C
c.964G>C
c.1092G>C (p.Gln364His)
c.24105G>C (p.Gln8035His)
n.2068G>C
c.4155G>C (p.Gln1385His)
n.9012G>C
c.3258G>C (p.Gln1086His)
n.8904G>C
n.1934G>C
n.4342G>C
n.2157G>C
c.1785G>C (p.Gln595His)
c.25425G>C (p.Gln8475His)
c.25413G>C (p.Gln8471His)
c.25404G>C (p.Gln8468His)
c.25374G>C (p.Gln8458His)
c.25410G>C (p.Gln8470His)
c.25356G>C (p.Gln8452His)
c.25353G>C (p.Gln8451His)
c.25341G>C (p.Gln8447His)
c.25284G>C (p.Gln8428His)
c.25272G>C (p.Gln8424His)
c.25269G>C (p.Gln8423His)
c.25266G>C (p.Gln8422His)
c.25422G>C (p.Gln8474His)
c.25260G>C (p.Gln8420His)
c.23700G>C (p.Gln7900His)
c.23193G>C (p.Gln7731His)
c.18660G>C (p.Gln6220His)
c.1926G>C (p.Gln642His)
c.25398G>C (p.Gln8466His)
c.25347G>C (p.Gln8449His)
c.25200G>C (p.Gln8400His)
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.152140088C>TCA452969924SYNE1c.1854G>A (p.Gln618=)
c.25320G>A (p.Gln8440=)
c.25176G>A (p.Gln8392=)
c.722G>A
c.1055G>A
c.964G>A
c.1092G>A (p.Gln364=)
c.24105G>A (p.Gln8035=)
n.2068G>A
c.4155G>A (p.Gln1385=)
n.9012G>A
c.3258G>A (p.Gln1086=)
n.8904G>A
n.1934G>A
n.4342G>A
n.2157G>A
c.1785G>A (p.Gln595=)
c.25425G>A (p.Gln8475=)
c.25413G>A (p.Gln8471=)
c.25404G>A (p.Gln8468=)
c.25374G>A (p.Gln8458=)
c.25410G>A (p.Gln8470=)
c.25356G>A (p.Gln8452=)
c.25353G>A (p.Gln8451=)
c.25341G>A (p.Gln8447=)
c.25284G>A (p.Gln8428=)
c.25272G>A (p.Gln8424=)
c.25269G>A (p.Gln8423=)
c.25266G>A (p.Gln8422=)
c.25422G>A (p.Gln8474=)
c.25260G>A (p.Gln8420=)
c.23700G>A (p.Gln7900=)
c.23193G>A (p.Gln7731=)
c.18660G>A (p.Gln6220=)
c.1926G>A (p.Gln642=)
c.25398G>A (p.Gln8466=)
c.25347G>A (p.Gln8449=)
c.25200G>A (p.Gln8400=)
 gnomAD v4
6g.152140089T>ACA366080607SYNE1c.1853A>T (p.Gln618Leu)
c.25319A>T (p.Gln8440Leu)
c.25175A>T (p.Gln8392Leu)
c.721A>T
c.1054A>T
c.963A>T
c.1091A>T (p.Gln364Leu)
c.24104A>T (p.Gln8035Leu)
n.2067A>T
c.4154A>T (p.Gln1385Leu)
n.9011A>T
c.3257A>T (p.Gln1086Leu)
n.8903A>T
n.1933A>T
n.4341A>T
n.2156A>T
c.1784A>T (p.Gln595Leu)
c.25424A>T (p.Gln8475Leu)
c.25412A>T (p.Gln8471Leu)
c.25403A>T (p.Gln8468Leu)
c.25373A>T (p.Gln8458Leu)
c.25409A>T (p.Gln8470Leu)
c.25355A>T (p.Gln8452Leu)
c.25352A>T (p.Gln8451Leu)
c.25340A>T (p.Gln8447Leu)
c.25283A>T (p.Gln8428Leu)
c.25271A>T (p.Gln8424Leu)
c.25268A>T (p.Gln8423Leu)
c.25265A>T (p.Gln8422Leu)
c.25421A>T (p.Gln8474Leu)
c.25259A>T (p.Gln8420Leu)
c.23699A>T (p.Gln7900Leu)
c.23192A>T (p.Gln7731Leu)
c.18659A>T (p.Gln6220Leu)
c.1925A>T (p.Gln642Leu)
c.25397A>T (p.Gln8466Leu)
c.25346A>T (p.Gln8449Leu)
c.25199A>T (p.Gln8400Leu)
6g.152140089T>CCA366080609SYNE1c.1853A>G (p.Gln618Arg)
c.25319A>G (p.Gln8440Arg)
c.25175A>G (p.Gln8392Arg)
c.721A>G
c.1054A>G
c.963A>G
c.1091A>G (p.Gln364Arg)
c.24104A>G (p.Gln8035Arg)
n.2067A>G
c.4154A>G (p.Gln1385Arg)
n.9011A>G
c.3257A>G (p.Gln1086Arg)
n.8903A>G
n.1933A>G
n.4341A>G
n.2156A>G
c.1784A>G (p.Gln595Arg)
c.25424A>G (p.Gln8475Arg)
c.25412A>G (p.Gln8471Arg)
c.25403A>G (p.Gln8468Arg)
c.25373A>G (p.Gln8458Arg)
c.25409A>G (p.Gln8470Arg)
c.25355A>G (p.Gln8452Arg)
c.25352A>G (p.Gln8451Arg)
c.25340A>G (p.Gln8447Arg)
c.25283A>G (p.Gln8428Arg)
c.25271A>G (p.Gln8424Arg)
c.25268A>G (p.Gln8423Arg)
c.25265A>G (p.Gln8422Arg)
c.25421A>G (p.Gln8474Arg)
c.25259A>G (p.Gln8420Arg)
c.23699A>G (p.Gln7900Arg)
c.23192A>G (p.Gln7731Arg)
c.18659A>G (p.Gln6220Arg)
c.1925A>G (p.Gln642Arg)
c.25397A>G (p.Gln8466Arg)
c.25346A>G (p.Gln8449Arg)
c.25199A>G (p.Gln8400Arg)
6g.152140089T>GCA366080612SYNE1c.1853A>C (p.Gln618Pro)
c.25319A>C (p.Gln8440Pro)
c.25175A>C (p.Gln8392Pro)
c.721A>C
c.1054A>C
c.963A>C
c.1091A>C (p.Gln364Pro)
c.24104A>C (p.Gln8035Pro)
n.2067A>C
c.4154A>C (p.Gln1385Pro)
n.9011A>C
c.3257A>C (p.Gln1086Pro)
n.8903A>C
n.1933A>C
n.4341A>C
n.2156A>C
c.1784A>C (p.Gln595Pro)
c.25424A>C (p.Gln8475Pro)
c.25412A>C (p.Gln8471Pro)
c.25403A>C (p.Gln8468Pro)
c.25373A>C (p.Gln8458Pro)
c.25409A>C (p.Gln8470Pro)
c.25355A>C (p.Gln8452Pro)
c.25352A>C (p.Gln8451Pro)
c.25340A>C (p.Gln8447Pro)
c.25283A>C (p.Gln8428Pro)
c.25271A>C (p.Gln8424Pro)
c.25268A>C (p.Gln8423Pro)
c.25265A>C (p.Gln8422Pro)
c.25421A>C (p.Gln8474Pro)
c.25259A>C (p.Gln8420Pro)
c.23699A>C (p.Gln7900Pro)
c.23192A>C (p.Gln7731Pro)
c.18659A>C (p.Gln6220Pro)
c.1925A>C (p.Gln642Pro)
c.25397A>C (p.Gln8466Pro)
c.25346A>C (p.Gln8449Pro)
c.25199A>C (p.Gln8400Pro)
6g.152140090G>ACA366080618SYNE1c.1852C>T (p.Gln618Ter)
c.25318C>T (p.Gln8440Ter)
c.25174C>T (p.Gln8392Ter)
c.720C>T
c.1053C>T
c.962C>T
c.1090C>T (p.Gln364Ter)
c.24103C>T (p.Gln8035Ter)
n.2066C>T
c.4153C>T (p.Gln1385Ter)
n.9010C>T
c.3256C>T (p.Gln1086Ter)
n.8902C>T
n.1932C>T
n.4340C>T
n.2155C>T
c.1783C>T (p.Gln595Ter)
c.25423C>T (p.Gln8475Ter)
c.25411C>T (p.Gln8471Ter)
c.25402C>T (p.Gln8468Ter)
c.25372C>T (p.Gln8458Ter)
c.25408C>T (p.Gln8470Ter)
c.25354C>T (p.Gln8452Ter)
c.25351C>T (p.Gln8451Ter)
c.25339C>T (p.Gln8447Ter)
c.25282C>T (p.Gln8428Ter)
c.25270C>T (p.Gln8424Ter)
c.25267C>T (p.Gln8423Ter)
c.25264C>T (p.Gln8422Ter)
c.25420C>T (p.Gln8474Ter)
c.25258C>T (p.Gln8420Ter)
c.23698C>T (p.Gln7900Ter)
c.23191C>T (p.Gln7731Ter)
c.18658C>T (p.Gln6220Ter)
c.1924C>T (p.Gln642Ter)
c.25396C>T (p.Gln8466Ter)
c.25345C>T (p.Gln8449Ter)
c.25198C>T (p.Gln8400Ter)
 gnomAD v4
6g.152140090G>CCA366080615SYNE1c.1852C>G (p.Gln618Glu)
c.25318C>G (p.Gln8440Glu)
c.25174C>G (p.Gln8392Glu)
c.720C>G
c.1053C>G
c.962C>G
c.1090C>G (p.Gln364Glu)
c.24103C>G (p.Gln8035Glu)
n.2066C>G
c.4153C>G (p.Gln1385Glu)
n.9010C>G
c.3256C>G (p.Gln1086Glu)
n.8902C>G
n.1932C>G
n.4340C>G
n.2155C>G
c.1783C>G (p.Gln595Glu)
c.25423C>G (p.Gln8475Glu)
c.25411C>G (p.Gln8471Glu)
c.25402C>G (p.Gln8468Glu)
c.25372C>G (p.Gln8458Glu)
c.25408C>G (p.Gln8470Glu)
c.25354C>G (p.Gln8452Glu)
c.25351C>G (p.Gln8451Glu)
c.25339C>G (p.Gln8447Glu)
c.25282C>G (p.Gln8428Glu)
c.25270C>G (p.Gln8424Glu)
c.25267C>G (p.Gln8423Glu)
c.25264C>G (p.Gln8422Glu)
c.25420C>G (p.Gln8474Glu)
c.25258C>G (p.Gln8420Glu)
c.23698C>G (p.Gln7900Glu)
c.23191C>G (p.Gln7731Glu)
c.18658C>G (p.Gln6220Glu)
c.1924C>G (p.Gln642Glu)
c.25396C>G (p.Gln8466Glu)
c.25345C>G (p.Gln8449Glu)
c.25198C>G (p.Gln8400Glu)
6g.152140090G>TCA366080614SYNE1c.1852C>A (p.Gln618Lys)
c.25318C>A (p.Gln8440Lys)
c.25174C>A (p.Gln8392Lys)
c.720C>A
c.1053C>A
c.962C>A
c.1090C>A (p.Gln364Lys)
c.24103C>A (p.Gln8035Lys)
n.2066C>A
c.4153C>A (p.Gln1385Lys)
n.9010C>A
c.3256C>A (p.Gln1086Lys)
n.8902C>A
n.1932C>A
n.4340C>A
n.2155C>A
c.1783C>A (p.Gln595Lys)
c.25423C>A (p.Gln8475Lys)
c.25411C>A (p.Gln8471Lys)
c.25402C>A (p.Gln8468Lys)
c.25372C>A (p.Gln8458Lys)
c.25408C>A (p.Gln8470Lys)
c.25354C>A (p.Gln8452Lys)
c.25351C>A (p.Gln8451Lys)
c.25339C>A (p.Gln8447Lys)
c.25282C>A (p.Gln8428Lys)
c.25270C>A (p.Gln8424Lys)
c.25267C>A (p.Gln8423Lys)
c.25264C>A (p.Gln8422Lys)
c.25420C>A (p.Gln8474Lys)
c.25258C>A (p.Gln8420Lys)
c.23698C>A (p.Gln7900Lys)
c.23191C>A (p.Gln7731Lys)
c.18658C>A (p.Gln6220Lys)
c.1924C>A (p.Gln642Lys)
c.25396C>A (p.Gln8466Lys)
c.25345C>A (p.Gln8449Lys)
c.25198C>A (p.Gln8400Lys)
6g.152140091G>ACA452969927SYNE1c.1851C>T (p.Leu617=)
c.25317C>T (p.Leu8439=)
c.25173C>T (p.Leu8391=)
c.719C>T
c.1052C>T
c.961C>T
c.1089C>T (p.Leu363=)
c.24102C>T (p.Leu8034=)
n.2065C>T
c.4152C>T (p.Leu1384=)
n.9009C>T
c.3255C>T (p.Leu1085=)
n.8901C>T
n.1931C>T
n.4339C>T
n.2154C>T
c.1782C>T (p.Leu594=)
c.25422C>T (p.Leu8474=)
c.25410C>T (p.Leu8470=)
c.25401C>T (p.Leu8467=)
c.25371C>T (p.Leu8457=)
c.25407C>T (p.Leu8469=)
c.25353C>T (p.Leu8451=)
c.25350C>T (p.Leu8450=)
c.25338C>T (p.Leu8446=)
c.25281C>T (p.Leu8427=)
c.25269C>T (p.Leu8423=)
c.25266C>T (p.Leu8422=)
c.25263C>T (p.Leu8421=)
c.25419C>T (p.Leu8473=)
c.25257C>T (p.Leu8419=)
c.23697C>T (p.Leu7899=)
c.23190C>T (p.Leu7730=)
c.18657C>T (p.Leu6219=)
c.1923C>T (p.Leu641=)
c.25395C>T (p.Leu8465=)
c.25344C>T (p.Leu8448=)
c.25197C>T (p.Leu8399=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152140091G>CCA452969929SYNE1c.1851C>G (p.Leu617=)
c.25317C>G (p.Leu8439=)
c.25173C>G (p.Leu8391=)
c.719C>G
c.1052C>G
c.961C>G
c.1089C>G (p.Leu363=)
c.24102C>G (p.Leu8034=)
n.2065C>G
c.4152C>G (p.Leu1384=)
n.9009C>G
c.3255C>G (p.Leu1085=)
n.8901C>G
n.1931C>G
n.4339C>G
n.2154C>G
c.1782C>G (p.Leu594=)
c.25422C>G (p.Leu8474=)
c.25410C>G (p.Leu8470=)
c.25401C>G (p.Leu8467=)
c.25371C>G (p.Leu8457=)
c.25407C>G (p.Leu8469=)
c.25353C>G (p.Leu8451=)
c.25350C>G (p.Leu8450=)
c.25338C>G (p.Leu8446=)
c.25281C>G (p.Leu8427=)
c.25269C>G (p.Leu8423=)
c.25266C>G (p.Leu8422=)
c.25263C>G (p.Leu8421=)
c.25419C>G (p.Leu8473=)
c.25257C>G (p.Leu8419=)
c.23697C>G (p.Leu7899=)
c.23190C>G (p.Leu7730=)
c.18657C>G (p.Leu6219=)
c.1923C>G (p.Leu641=)
c.25395C>G (p.Leu8465=)
c.25344C>G (p.Leu8448=)
c.25197C>G (p.Leu8399=)
6g.152140091G>TCA452969930SYNE1c.1851C>A (p.Leu617=)
c.25317C>A (p.Leu8439=)
c.25173C>A (p.Leu8391=)
c.719C>A
c.1052C>A
c.961C>A
c.1089C>A (p.Leu363=)
c.24102C>A (p.Leu8034=)
n.2065C>A
c.4152C>A (p.Leu1384=)
n.9009C>A
c.3255C>A (p.Leu1085=)
n.8901C>A
n.1931C>A
n.4339C>A
n.2154C>A
c.1782C>A (p.Leu594=)
c.25422C>A (p.Leu8474=)
c.25410C>A (p.Leu8470=)
c.25401C>A (p.Leu8467=)
c.25371C>A (p.Leu8457=)
c.25407C>A (p.Leu8469=)
c.25353C>A (p.Leu8451=)
c.25350C>A (p.Leu8450=)
c.25338C>A (p.Leu8446=)
c.25281C>A (p.Leu8427=)
c.25269C>A (p.Leu8423=)
c.25266C>A (p.Leu8422=)
c.25263C>A (p.Leu8421=)
c.25419C>A (p.Leu8473=)
c.25257C>A (p.Leu8419=)
c.23697C>A (p.Leu7899=)
c.23190C>A (p.Leu7730=)
c.18657C>A (p.Leu6219=)
c.1923C>A (p.Leu641=)
c.25395C>A (p.Leu8465=)
c.25344C>A (p.Leu8448=)
c.25197C>A (p.Leu8399=)
6g.152140092A>CCA366080621SYNE1c.1850T>G (p.Leu617Arg)
c.25316T>G (p.Leu8439Arg)
c.25172T>G (p.Leu8391Arg)
c.718T>G
c.1051T>G
c.960T>G
c.1088T>G (p.Leu363Arg)
c.24101T>G (p.Leu8034Arg)
n.2064T>G
c.4151T>G (p.Leu1384Arg)
n.9008T>G
c.3254T>G (p.Leu1085Arg)
n.8900T>G
n.1930T>G
n.4338T>G
n.2153T>G
c.1781T>G (p.Leu594Arg)
c.25421T>G (p.Leu8474Arg)
c.25409T>G (p.Leu8470Arg)
c.25400T>G (p.Leu8467Arg)
c.25370T>G (p.Leu8457Arg)
c.25406T>G (p.Leu8469Arg)
c.25352T>G (p.Leu8451Arg)
c.25349T>G (p.Leu8450Arg)
c.25337T>G (p.Leu8446Arg)
c.25280T>G (p.Leu8427Arg)
c.25268T>G (p.Leu8423Arg)
c.25265T>G (p.Leu8422Arg)
c.25262T>G (p.Leu8421Arg)
c.25418T>G (p.Leu8473Arg)
c.25256T>G (p.Leu8419Arg)
c.23696T>G (p.Leu7899Arg)
c.23189T>G (p.Leu7730Arg)
c.18656T>G (p.Leu6219Arg)
c.1922T>G (p.Leu641Arg)
c.25394T>G (p.Leu8465Arg)
c.25343T>G (p.Leu8448Arg)
c.25196T>G (p.Leu8399Arg)
6g.152140092A>GCA366080623SYNE1c.1850T>C (p.Leu617Pro)
c.25316T>C (p.Leu8439Pro)
c.25172T>C (p.Leu8391Pro)
c.718T>C
c.1051T>C
c.960T>C
c.1088T>C (p.Leu363Pro)
c.24101T>C (p.Leu8034Pro)
n.2064T>C
c.4151T>C (p.Leu1384Pro)
n.9008T>C
c.3254T>C (p.Leu1085Pro)
n.8900T>C
n.1930T>C
n.4338T>C
n.2153T>C
c.1781T>C (p.Leu594Pro)
c.25421T>C (p.Leu8474Pro)
c.25409T>C (p.Leu8470Pro)
c.25400T>C (p.Leu8467Pro)
c.25370T>C (p.Leu8457Pro)
c.25406T>C (p.Leu8469Pro)
c.25352T>C (p.Leu8451Pro)
c.25349T>C (p.Leu8450Pro)
c.25337T>C (p.Leu8446Pro)
c.25280T>C (p.Leu8427Pro)
c.25268T>C (p.Leu8423Pro)
c.25265T>C (p.Leu8422Pro)
c.25262T>C (p.Leu8421Pro)
c.25418T>C (p.Leu8473Pro)
c.25256T>C (p.Leu8419Pro)
c.23696T>C (p.Leu7899Pro)
c.23189T>C (p.Leu7730Pro)
c.18656T>C (p.Leu6219Pro)
c.1922T>C (p.Leu641Pro)
c.25394T>C (p.Leu8465Pro)
c.25343T>C (p.Leu8448Pro)
c.25196T>C (p.Leu8399Pro)
6g.152140092A>TCA366080625SYNE1c.1850T>A (p.Leu617His)
c.25316T>A (p.Leu8439His)
c.25172T>A (p.Leu8391His)
c.718T>A
c.1051T>A
c.960T>A
c.1088T>A (p.Leu363His)
c.24101T>A (p.Leu8034His)
n.2064T>A
c.4151T>A (p.Leu1384His)
n.9008T>A
c.3254T>A (p.Leu1085His)
n.8900T>A
n.1930T>A
n.4338T>A
n.2153T>A
c.1781T>A (p.Leu594His)
c.25421T>A (p.Leu8474His)
c.25409T>A (p.Leu8470His)
c.25400T>A (p.Leu8467His)
c.25370T>A (p.Leu8457His)
c.25406T>A (p.Leu8469His)
c.25352T>A (p.Leu8451His)
c.25349T>A (p.Leu8450His)
c.25337T>A (p.Leu8446His)
c.25280T>A (p.Leu8427His)
c.25268T>A (p.Leu8423His)
c.25265T>A (p.Leu8422His)
c.25262T>A (p.Leu8421His)
c.25418T>A (p.Leu8473His)
c.25256T>A (p.Leu8419His)
c.23696T>A (p.Leu7899His)
c.23189T>A (p.Leu7730His)
c.18656T>A (p.Leu6219His)
c.1922T>A (p.Leu641His)
c.25394T>A (p.Leu8465His)
c.25343T>A (p.Leu8448His)
c.25196T>A (p.Leu8399His)
6g.152140093G>ACA366080627SYNE1c.1849C>T (p.Leu617Phe)
c.25315C>T (p.Leu8439Phe)
c.25171C>T (p.Leu8391Phe)
c.717C>T
c.1050C>T
c.959C>T
c.1087C>T (p.Leu363Phe)
c.24100C>T (p.Leu8034Phe)
n.2063C>T
c.4150C>T (p.Leu1384Phe)
n.9007C>T
c.3253C>T (p.Leu1085Phe)
n.8899C>T
n.1929C>T
n.4337C>T
n.2152C>T
c.1780C>T (p.Leu594Phe)
c.25420C>T (p.Leu8474Phe)
c.25408C>T (p.Leu8470Phe)
c.25399C>T (p.Leu8467Phe)
c.25369C>T (p.Leu8457Phe)
c.25405C>T (p.Leu8469Phe)
c.25351C>T (p.Leu8451Phe)
c.25348C>T (p.Leu8450Phe)
c.25336C>T (p.Leu8446Phe)
c.25279C>T (p.Leu8427Phe)
c.25267C>T (p.Leu8423Phe)
c.25264C>T (p.Leu8422Phe)
c.25261C>T (p.Leu8421Phe)
c.25417C>T (p.Leu8473Phe)
c.25255C>T (p.Leu8419Phe)
c.23695C>T (p.Leu7899Phe)
c.23188C>T (p.Leu7730Phe)
c.18655C>T (p.Leu6219Phe)
c.1921C>T (p.Leu641Phe)
c.25393C>T (p.Leu8465Phe)
c.25342C>T (p.Leu8448Phe)
c.25195C>T (p.Leu8399Phe)
6g.152140093G>CCA366080628SYNE1c.1849C>G (p.Leu617Val)
c.25315C>G (p.Leu8439Val)
c.25171C>G (p.Leu8391Val)
c.717C>G
c.1050C>G
c.959C>G
c.1087C>G (p.Leu363Val)
c.24100C>G (p.Leu8034Val)
n.2063C>G
c.4150C>G (p.Leu1384Val)
n.9007C>G
c.3253C>G (p.Leu1085Val)
n.8899C>G
n.1929C>G
n.4337C>G
n.2152C>G
c.1780C>G (p.Leu594Val)
c.25420C>G (p.Leu8474Val)
c.25408C>G (p.Leu8470Val)
c.25399C>G (p.Leu8467Val)
c.25369C>G (p.Leu8457Val)
c.25405C>G (p.Leu8469Val)
c.25351C>G (p.Leu8451Val)
c.25348C>G (p.Leu8450Val)
c.25336C>G (p.Leu8446Val)
c.25279C>G (p.Leu8427Val)
c.25267C>G (p.Leu8423Val)
c.25264C>G (p.Leu8422Val)
c.25261C>G (p.Leu8421Val)
c.25417C>G (p.Leu8473Val)
c.25255C>G (p.Leu8419Val)
c.23695C>G (p.Leu7899Val)
c.23188C>G (p.Leu7730Val)
c.18655C>G (p.Leu6219Val)
c.1921C>G (p.Leu641Val)
c.25393C>G (p.Leu8465Val)
c.25342C>G (p.Leu8448Val)
c.25195C>G (p.Leu8399Val)
6g.152140093G>TCA366080630SYNE1c.1849C>A (p.Leu617Ile)
c.25315C>A (p.Leu8439Ile)
c.25171C>A (p.Leu8391Ile)
c.717C>A
c.1050C>A
c.959C>A
c.1087C>A (p.Leu363Ile)
c.24100C>A (p.Leu8034Ile)
n.2063C>A
c.4150C>A (p.Leu1384Ile)
n.9007C>A
c.3253C>A (p.Leu1085Ile)
n.8899C>A
n.1929C>A
n.4337C>A
n.2152C>A
c.1780C>A (p.Leu594Ile)
c.25420C>A (p.Leu8474Ile)
c.25408C>A (p.Leu8470Ile)
c.25399C>A (p.Leu8467Ile)
c.25369C>A (p.Leu8457Ile)
c.25405C>A (p.Leu8469Ile)
c.25351C>A (p.Leu8451Ile)
c.25348C>A (p.Leu8450Ile)
c.25336C>A (p.Leu8446Ile)
c.25279C>A (p.Leu8427Ile)
c.25267C>A (p.Leu8423Ile)
c.25264C>A (p.Leu8422Ile)
c.25261C>A (p.Leu8421Ile)
c.25417C>A (p.Leu8473Ile)
c.25255C>A (p.Leu8419Ile)
c.23695C>A (p.Leu7899Ile)
c.23188C>A (p.Leu7730Ile)
c.18655C>A (p.Leu6219Ile)
c.1921C>A (p.Leu641Ile)
c.25393C>A (p.Leu8465Ile)
c.25342C>A (p.Leu8448Ile)
c.25195C>A (p.Leu8399Ile)
 gnomAD v4
6g.152140094G>ACA452969933SYNE1c.1848C>T (p.Asn616=)
c.25314C>T (p.Asn8438=)
c.25170C>T (p.Asn8390=)
c.716C>T
c.1049C>T
c.958C>T
c.1086C>T (p.Asn362=)
c.24099C>T (p.Asn8033=)
n.2062C>T
c.4149C>T (p.Asn1383=)
n.9006C>T
c.3252C>T (p.Asn1084=)
n.8898C>T
n.1928C>T
n.4336C>T
n.2151C>T
c.1779C>T (p.Asn593=)
c.25419C>T (p.Asn8473=)
c.25407C>T (p.Asn8469=)
c.25398C>T (p.Asn8466=)
c.25368C>T (p.Asn8456=)
c.25404C>T (p.Asn8468=)
c.25350C>T (p.Asn8450=)
c.25347C>T (p.Asn8449=)
c.25335C>T (p.Asn8445=)
c.25278C>T (p.Asn8426=)
c.25266C>T (p.Asn8422=)
c.25263C>T (p.Asn8421=)
c.25260C>T (p.Asn8420=)
c.25416C>T (p.Asn8472=)
c.25254C>T (p.Asn8418=)
c.23694C>T (p.Asn7898=)
c.23187C>T (p.Asn7729=)
c.18654C>T (p.Asn6218=)
c.1920C>T (p.Asn640=)
c.25392C>T (p.Asn8464=)
c.25341C>T (p.Asn8447=)
c.25194C>T (p.Asn8398=)
6g.152140094G>CCA366080633SYNE1c.1848C>G (p.Asn616Lys)
c.25314C>G (p.Asn8438Lys)
c.25170C>G (p.Asn8390Lys)
c.716C>G
c.1049C>G
c.958C>G
c.1086C>G (p.Asn362Lys)
c.24099C>G (p.Asn8033Lys)
n.2062C>G
c.4149C>G (p.Asn1383Lys)
n.9006C>G
c.3252C>G (p.Asn1084Lys)
n.8898C>G
n.1928C>G
n.4336C>G
n.2151C>G
c.1779C>G (p.Asn593Lys)
c.25419C>G (p.Asn8473Lys)
c.25407C>G (p.Asn8469Lys)
c.25398C>G (p.Asn8466Lys)
c.25368C>G (p.Asn8456Lys)
c.25404C>G (p.Asn8468Lys)
c.25350C>G (p.Asn8450Lys)
c.25347C>G (p.Asn8449Lys)
c.25335C>G (p.Asn8445Lys)
c.25278C>G (p.Asn8426Lys)
c.25266C>G (p.Asn8422Lys)
c.25263C>G (p.Asn8421Lys)
c.25260C>G (p.Asn8420Lys)
c.25416C>G (p.Asn8472Lys)
c.25254C>G (p.Asn8418Lys)
c.23694C>G (p.Asn7898Lys)
c.23187C>G (p.Asn7729Lys)
c.18654C>G (p.Asn6218Lys)
c.1920C>G (p.Asn640Lys)
c.25392C>G (p.Asn8464Lys)
c.25341C>G (p.Asn8447Lys)
c.25194C>G (p.Asn8398Lys)
 gnomAD v4
6g.152140094G>TCA366080636SYNE1c.1848C>A (p.Asn616Lys)
c.25314C>A (p.Asn8438Lys)
c.25170C>A (p.Asn8390Lys)
c.716C>A
c.1049C>A
c.958C>A
c.1086C>A (p.Asn362Lys)
c.24099C>A (p.Asn8033Lys)
n.2062C>A
c.4149C>A (p.Asn1383Lys)
n.9006C>A
c.3252C>A (p.Asn1084Lys)
n.8898C>A
n.1928C>A
n.4336C>A
n.2151C>A
c.1779C>A (p.Asn593Lys)
c.25419C>A (p.Asn8473Lys)
c.25407C>A (p.Asn8469Lys)
c.25398C>A (p.Asn8466Lys)
c.25368C>A (p.Asn8456Lys)
c.25404C>A (p.Asn8468Lys)
c.25350C>A (p.Asn8450Lys)
c.25347C>A (p.Asn8449Lys)
c.25335C>A (p.Asn8445Lys)
c.25278C>A (p.Asn8426Lys)
c.25266C>A (p.Asn8422Lys)
c.25263C>A (p.Asn8421Lys)
c.25260C>A (p.Asn8420Lys)
c.25416C>A (p.Asn8472Lys)
c.25254C>A (p.Asn8418Lys)
c.23694C>A (p.Asn7898Lys)
c.23187C>A (p.Asn7729Lys)
c.18654C>A (p.Asn6218Lys)
c.1920C>A (p.Asn640Lys)
c.25392C>A (p.Asn8464Lys)
c.25341C>A (p.Asn8447Lys)
c.25194C>A (p.Asn8398Lys)
6g.152140095T>ACA366080638SYNE1c.1847A>T (p.Asn616Ile)
c.25313A>T (p.Asn8438Ile)
c.25169A>T (p.Asn8390Ile)
c.715A>T
c.1048A>T
c.957A>T
c.1085A>T (p.Asn362Ile)
c.24098A>T (p.Asn8033Ile)
n.2061A>T
c.4148A>T (p.Asn1383Ile)
n.9005A>T
c.3251A>T (p.Asn1084Ile)
n.8897A>T
n.1927A>T
n.4335A>T
n.2150A>T
c.1778A>T (p.Asn593Ile)
c.25418A>T (p.Asn8473Ile)
c.25406A>T (p.Asn8469Ile)
c.25397A>T (p.Asn8466Ile)
c.25367A>T (p.Asn8456Ile)
c.25403A>T (p.Asn8468Ile)
c.25349A>T (p.Asn8450Ile)
c.25346A>T (p.Asn8449Ile)
c.25334A>T (p.Asn8445Ile)
c.25277A>T (p.Asn8426Ile)
c.25265A>T (p.Asn8422Ile)
c.25262A>T (p.Asn8421Ile)
c.25259A>T (p.Asn8420Ile)
c.25415A>T (p.Asn8472Ile)
c.25253A>T (p.Asn8418Ile)
c.23693A>T (p.Asn7898Ile)
c.23186A>T (p.Asn7729Ile)
c.18653A>T (p.Asn6218Ile)
c.1919A>T (p.Asn640Ile)
c.25391A>T (p.Asn8464Ile)
c.25340A>T (p.Asn8447Ile)
c.25193A>T (p.Asn8398Ile)
6g.152140095T>CCA366080641SYNE1c.1847A>G (p.Asn616Ser)
c.25313A>G (p.Asn8438Ser)
c.25169A>G (p.Asn8390Ser)
c.715A>G
c.1048A>G
c.957A>G
c.1085A>G (p.Asn362Ser)
c.24098A>G (p.Asn8033Ser)
n.2061A>G
c.4148A>G (p.Asn1383Ser)
n.9005A>G
c.3251A>G (p.Asn1084Ser)
n.8897A>G
n.1927A>G
n.4335A>G
n.2150A>G
c.1778A>G (p.Asn593Ser)
c.25418A>G (p.Asn8473Ser)
c.25406A>G (p.Asn8469Ser)
c.25397A>G (p.Asn8466Ser)
c.25367A>G (p.Asn8456Ser)
c.25403A>G (p.Asn8468Ser)
c.25349A>G (p.Asn8450Ser)
c.25346A>G (p.Asn8449Ser)
c.25334A>G (p.Asn8445Ser)
c.25277A>G (p.Asn8426Ser)
c.25265A>G (p.Asn8422Ser)
c.25262A>G (p.Asn8421Ser)
c.25259A>G (p.Asn8420Ser)
c.25415A>G (p.Asn8472Ser)
c.25253A>G (p.Asn8418Ser)
c.23693A>G (p.Asn7898Ser)
c.23186A>G (p.Asn7729Ser)
c.18653A>G (p.Asn6218Ser)
c.1919A>G (p.Asn640Ser)
c.25391A>G (p.Asn8464Ser)
c.25340A>G (p.Asn8447Ser)
c.25193A>G (p.Asn8398Ser)
6g.152140095T>GCA366080643SYNE1c.1847A>C (p.Asn616Thr)
c.25313A>C (p.Asn8438Thr)
c.25169A>C (p.Asn8390Thr)
c.715A>C
c.1048A>C
c.957A>C
c.1085A>C (p.Asn362Thr)
c.24098A>C (p.Asn8033Thr)
n.2061A>C
c.4148A>C (p.Asn1383Thr)
n.9005A>C
c.3251A>C (p.Asn1084Thr)
n.8897A>C
n.1927A>C
n.4335A>C
n.2150A>C
c.1778A>C (p.Asn593Thr)
c.25418A>C (p.Asn8473Thr)
c.25406A>C (p.Asn8469Thr)
c.25397A>C (p.Asn8466Thr)
c.25367A>C (p.Asn8456Thr)
c.25403A>C (p.Asn8468Thr)
c.25349A>C (p.Asn8450Thr)
c.25346A>C (p.Asn8449Thr)
c.25334A>C (p.Asn8445Thr)
c.25277A>C (p.Asn8426Thr)
c.25265A>C (p.Asn8422Thr)
c.25262A>C (p.Asn8421Thr)
c.25259A>C (p.Asn8420Thr)
c.25415A>C (p.Asn8472Thr)
c.25253A>C (p.Asn8418Thr)
c.23693A>C (p.Asn7898Thr)
c.23186A>C (p.Asn7729Thr)
c.18653A>C (p.Asn6218Thr)
c.1919A>C (p.Asn640Thr)
c.25391A>C (p.Asn8464Thr)
c.25340A>C (p.Asn8447Thr)
c.25193A>C (p.Asn8398Thr)
6g.152140096T>ACA366080645SYNE1c.1846A>T (p.Asn616Tyr)
c.25312A>T (p.Asn8438Tyr)
c.25168A>T (p.Asn8390Tyr)
c.714A>T
c.1047A>T
c.956A>T
c.1084A>T (p.Asn362Tyr)
c.24097A>T (p.Asn8033Tyr)
n.2060A>T
c.4147A>T (p.Asn1383Tyr)
n.9004A>T
c.3250A>T (p.Asn1084Tyr)
n.8896A>T
n.1926A>T
n.4334A>T
n.2149A>T
c.1777A>T (p.Asn593Tyr)
c.25417A>T (p.Asn8473Tyr)
c.25405A>T (p.Asn8469Tyr)
c.25396A>T (p.Asn8466Tyr)
c.25366A>T (p.Asn8456Tyr)
c.25402A>T (p.Asn8468Tyr)
c.25348A>T (p.Asn8450Tyr)
c.25345A>T (p.Asn8449Tyr)
c.25333A>T (p.Asn8445Tyr)
c.25276A>T (p.Asn8426Tyr)
c.25264A>T (p.Asn8422Tyr)
c.25261A>T (p.Asn8421Tyr)
c.25258A>T (p.Asn8420Tyr)
c.25414A>T (p.Asn8472Tyr)
c.25252A>T (p.Asn8418Tyr)
c.23692A>T (p.Asn7898Tyr)
c.23185A>T (p.Asn7729Tyr)
c.18652A>T (p.Asn6218Tyr)
c.1918A>T (p.Asn640Tyr)
c.25390A>T (p.Asn8464Tyr)
c.25339A>T (p.Asn8447Tyr)
c.25192A>T (p.Asn8398Tyr)
6g.152140096T>CCA366080648SYNE1c.1846A>G (p.Asn616Asp)
c.25312A>G (p.Asn8438Asp)
c.25168A>G (p.Asn8390Asp)
c.714A>G
c.1047A>G
c.956A>G
c.1084A>G (p.Asn362Asp)
c.24097A>G (p.Asn8033Asp)
n.2060A>G
c.4147A>G (p.Asn1383Asp)
n.9004A>G
c.3250A>G (p.Asn1084Asp)
n.8896A>G
n.1926A>G
n.4334A>G
n.2149A>G
c.1777A>G (p.Asn593Asp)
c.25417A>G (p.Asn8473Asp)
c.25405A>G (p.Asn8469Asp)
c.25396A>G (p.Asn8466Asp)
c.25366A>G (p.Asn8456Asp)
c.25402A>G (p.Asn8468Asp)
c.25348A>G (p.Asn8450Asp)
c.25345A>G (p.Asn8449Asp)
c.25333A>G (p.Asn8445Asp)
c.25276A>G (p.Asn8426Asp)
c.25264A>G (p.Asn8422Asp)
c.25261A>G (p.Asn8421Asp)
c.25258A>G (p.Asn8420Asp)
c.25414A>G (p.Asn8472Asp)
c.25252A>G (p.Asn8418Asp)
c.23692A>G (p.Asn7898Asp)
c.23185A>G (p.Asn7729Asp)
c.18652A>G (p.Asn6218Asp)
c.1918A>G (p.Asn640Asp)
c.25390A>G (p.Asn8464Asp)
c.25339A>G (p.Asn8447Asp)
c.25192A>G (p.Asn8398Asp)
6g.152140096T>GCA366080650SYNE1c.1846A>C (p.Asn616His)
c.25312A>C (p.Asn8438His)
c.25168A>C (p.Asn8390His)
c.714A>C
c.1047A>C
c.956A>C
c.1084A>C (p.Asn362His)
c.24097A>C (p.Asn8033His)
n.2060A>C
c.4147A>C (p.Asn1383His)
n.9004A>C
c.3250A>C (p.Asn1084His)
n.8896A>C
n.1926A>C
n.4334A>C
n.2149A>C
c.1777A>C (p.Asn593His)
c.25417A>C (p.Asn8473His)
c.25405A>C (p.Asn8469His)
c.25396A>C (p.Asn8466His)
c.25366A>C (p.Asn8456His)
c.25402A>C (p.Asn8468His)
c.25348A>C (p.Asn8450His)
c.25345A>C (p.Asn8449His)
c.25333A>C (p.Asn8445His)
c.25276A>C (p.Asn8426His)
c.25264A>C (p.Asn8422His)
c.25261A>C (p.Asn8421His)
c.25258A>C (p.Asn8420His)
c.25414A>C (p.Asn8472His)
c.25252A>C (p.Asn8418His)
c.23692A>C (p.Asn7898His)
c.23185A>C (p.Asn7729His)
c.18652A>C (p.Asn6218His)
c.1918A>C (p.Asn640His)
c.25390A>C (p.Asn8464His)
c.25339A>C (p.Asn8447His)
c.25192A>C (p.Asn8398His)
6g.152140097C>ACA366080655SYNE1c.1845G>T (p.Gln615His)
c.25311G>T (p.Gln8437His)
c.25167G>T (p.Gln8389His)
c.713G>T
c.1046G>T
c.955G>T
c.1083G>T (p.Gln361His)
c.24096G>T (p.Gln8032His)
n.2059G>T
c.4146G>T (p.Gln1382His)
n.9003G>T
c.3249G>T (p.Gln1083His)
n.8895G>T
n.1925G>T
n.4333G>T
n.2148G>T
c.1776G>T (p.Gln592His)
c.25416G>T (p.Gln8472His)
c.25404G>T (p.Gln8468His)
c.25395G>T (p.Gln8465His)
c.25365G>T (p.Gln8455His)
c.25401G>T (p.Gln8467His)
c.25347G>T (p.Gln8449His)
c.25344G>T (p.Gln8448His)
c.25332G>T (p.Gln8444His)
c.25275G>T (p.Gln8425His)
c.25263G>T (p.Gln8421His)
c.25260G>T (p.Gln8420His)
c.25257G>T (p.Gln8419His)
c.25413G>T (p.Gln8471His)
c.25251G>T (p.Gln8417His)
c.23691G>T (p.Gln7897His)
c.23184G>T (p.Gln7728His)
c.18651G>T (p.Gln6217His)
c.1917G>T (p.Gln639His)
c.25389G>T (p.Gln8463His)
c.25338G>T (p.Gln8446His)
c.25191G>T (p.Gln8397His)
6g.152140097C>GCA366080653SYNE1c.1845G>C (p.Gln615His)
c.25311G>C (p.Gln8437His)
c.25167G>C (p.Gln8389His)
c.713G>C
c.1046G>C
c.955G>C
c.1083G>C (p.Gln361His)
c.24096G>C (p.Gln8032His)
n.2059G>C
c.4146G>C (p.Gln1382His)
n.9003G>C
c.3249G>C (p.Gln1083His)
n.8895G>C
n.1925G>C
n.4333G>C
n.2148G>C
c.1776G>C (p.Gln592His)
c.25416G>C (p.Gln8472His)
c.25404G>C (p.Gln8468His)
c.25395G>C (p.Gln8465His)
c.25365G>C (p.Gln8455His)
c.25401G>C (p.Gln8467His)
c.25347G>C (p.Gln8449His)
c.25344G>C (p.Gln8448His)
c.25332G>C (p.Gln8444His)
c.25275G>C (p.Gln8425His)
c.25263G>C (p.Gln8421His)
c.25260G>C (p.Gln8420His)
c.25257G>C (p.Gln8419His)
c.25413G>C (p.Gln8471His)
c.25251G>C (p.Gln8417His)
c.23691G>C (p.Gln7897His)
c.23184G>C (p.Gln7728His)
c.18651G>C (p.Gln6217His)
c.1917G>C (p.Gln639His)
c.25389G>C (p.Gln8463His)
c.25338G>C (p.Gln8446His)
c.25191G>C (p.Gln8397His)
6g.152140097C>TCA452969936SYNE1c.1845G>A (p.Gln615=)
c.25311G>A (p.Gln8437=)
c.25167G>A (p.Gln8389=)
c.713G>A
c.1046G>A
c.955G>A
c.1083G>A (p.Gln361=)
c.24096G>A (p.Gln8032=)
n.2059G>A
c.4146G>A (p.Gln1382=)
n.9003G>A
c.3249G>A (p.Gln1083=)
n.8895G>A
n.1925G>A
n.4333G>A
n.2148G>A
c.1776G>A (p.Gln592=)
c.25416G>A (p.Gln8472=)
c.25404G>A (p.Gln8468=)
c.25395G>A (p.Gln8465=)
c.25365G>A (p.Gln8455=)
c.25401G>A (p.Gln8467=)
c.25347G>A (p.Gln8449=)
c.25344G>A (p.Gln8448=)
c.25332G>A (p.Gln8444=)
c.25275G>A (p.Gln8425=)
c.25263G>A (p.Gln8421=)
c.25260G>A (p.Gln8420=)
c.25257G>A (p.Gln8419=)
c.25413G>A (p.Gln8471=)
c.25251G>A (p.Gln8417=)
c.23691G>A (p.Gln7897=)
c.23184G>A (p.Gln7728=)
c.18651G>A (p.Gln6217=)
c.1917G>A (p.Gln639=)
c.25389G>A (p.Gln8463=)
c.25338G>A (p.Gln8446=)
c.25191G>A (p.Gln8397=)
6g.152140098T>ACA366080659SYNE1c.1844A>T (p.Gln615Leu)
c.25310A>T (p.Gln8437Leu)
c.25166A>T (p.Gln8389Leu)
c.712A>T
c.1045A>T
c.954A>T
c.1082A>T (p.Gln361Leu)
c.24095A>T (p.Gln8032Leu)
n.2058A>T
c.4145A>T (p.Gln1382Leu)
n.9002A>T
c.3248A>T (p.Gln1083Leu)
n.8894A>T
n.1924A>T
n.4332A>T
n.2147A>T
c.1775A>T (p.Gln592Leu)
c.25415A>T (p.Gln8472Leu)
c.25403A>T (p.Gln8468Leu)
c.25394A>T (p.Gln8465Leu)
c.25364A>T (p.Gln8455Leu)
c.25400A>T (p.Gln8467Leu)
c.25346A>T (p.Gln8449Leu)
c.25343A>T (p.Gln8448Leu)
c.25331A>T (p.Gln8444Leu)
c.25274A>T (p.Gln8425Leu)
c.25262A>T (p.Gln8421Leu)
c.25259A>T (p.Gln8420Leu)
c.25256A>T (p.Gln8419Leu)
c.25412A>T (p.Gln8471Leu)
c.25250A>T (p.Gln8417Leu)
c.23690A>T (p.Gln7897Leu)
c.23183A>T (p.Gln7728Leu)
c.18650A>T (p.Gln6217Leu)
c.1916A>T (p.Gln639Leu)
c.25388A>T (p.Gln8463Leu)
c.25337A>T (p.Gln8446Leu)
c.25190A>T (p.Gln8397Leu)
6g.152140098T>CCA366080661SYNE1c.1844A>G (p.Gln615Arg)
c.25310A>G (p.Gln8437Arg)
c.25166A>G (p.Gln8389Arg)
c.712A>G
c.1045A>G
c.954A>G
c.1082A>G (p.Gln361Arg)
c.24095A>G (p.Gln8032Arg)
n.2058A>G
c.4145A>G (p.Gln1382Arg)
n.9002A>G
c.3248A>G (p.Gln1083Arg)
n.8894A>G
n.1924A>G
n.4332A>G
n.2147A>G
c.1775A>G (p.Gln592Arg)
c.25415A>G (p.Gln8472Arg)
c.25403A>G (p.Gln8468Arg)
c.25394A>G (p.Gln8465Arg)
c.25364A>G (p.Gln8455Arg)
c.25400A>G (p.Gln8467Arg)
c.25346A>G (p.Gln8449Arg)
c.25343A>G (p.Gln8448Arg)
c.25331A>G (p.Gln8444Arg)
c.25274A>G (p.Gln8425Arg)
c.25262A>G (p.Gln8421Arg)
c.25259A>G (p.Gln8420Arg)
c.25256A>G (p.Gln8419Arg)
c.25412A>G (p.Gln8471Arg)
c.25250A>G (p.Gln8417Arg)
c.23690A>G (p.Gln7897Arg)
c.23183A>G (p.Gln7728Arg)
c.18650A>G (p.Gln6217Arg)
c.1916A>G (p.Gln639Arg)
c.25388A>G (p.Gln8463Arg)
c.25337A>G (p.Gln8446Arg)
c.25190A>G (p.Gln8397Arg)
6g.152140098T>GCA366080663SYNE1c.1844A>C (p.Gln615Pro)
c.25310A>C (p.Gln8437Pro)
c.25166A>C (p.Gln8389Pro)
c.712A>C
c.1045A>C
c.954A>C
c.1082A>C (p.Gln361Pro)
c.24095A>C (p.Gln8032Pro)
n.2058A>C
c.4145A>C (p.Gln1382Pro)
n.9002A>C
c.3248A>C (p.Gln1083Pro)
n.8894A>C
n.1924A>C
n.4332A>C
n.2147A>C
c.1775A>C (p.Gln592Pro)
c.25415A>C (p.Gln8472Pro)
c.25403A>C (p.Gln8468Pro)
c.25394A>C (p.Gln8465Pro)
c.25364A>C (p.Gln8455Pro)
c.25400A>C (p.Gln8467Pro)
c.25346A>C (p.Gln8449Pro)
c.25343A>C (p.Gln8448Pro)
c.25331A>C (p.Gln8444Pro)
c.25274A>C (p.Gln8425Pro)
c.25262A>C (p.Gln8421Pro)
c.25259A>C (p.Gln8420Pro)
c.25256A>C (p.Gln8419Pro)
c.25412A>C (p.Gln8471Pro)
c.25250A>C (p.Gln8417Pro)
c.23690A>C (p.Gln7897Pro)
c.23183A>C (p.Gln7728Pro)
c.18650A>C (p.Gln6217Pro)
c.1916A>C (p.Gln639Pro)
c.25388A>C (p.Gln8463Pro)
c.25337A>C (p.Gln8446Pro)
c.25190A>C (p.Gln8397Pro)
6g.152140099G>ACA366080673SYNE1c.1843C>T (p.Gln615Ter)
c.25309C>T (p.Gln8437Ter)
c.25165C>T (p.Gln8389Ter)
c.711C>T
c.1044C>T
c.953C>T
c.1081C>T (p.Gln361Ter)
c.24094C>T (p.Gln8032Ter)
n.2057C>T
c.4144C>T (p.Gln1382Ter)
n.9001C>T
c.3247C>T (p.Gln1083Ter)
n.8893C>T
n.1923C>T
n.4331C>T
n.2146C>T
c.1774C>T (p.Gln592Ter)
c.25414C>T (p.Gln8472Ter)
c.25402C>T (p.Gln8468Ter)
c.25393C>T (p.Gln8465Ter)
c.25363C>T (p.Gln8455Ter)
c.25399C>T (p.Gln8467Ter)
c.25345C>T (p.Gln8449Ter)
c.25342C>T (p.Gln8448Ter)
c.25330C>T (p.Gln8444Ter)
c.25273C>T (p.Gln8425Ter)
c.25261C>T (p.Gln8421Ter)
c.25258C>T (p.Gln8420Ter)
c.25255C>T (p.Gln8419Ter)
c.25411C>T (p.Gln8471Ter)
c.25249C>T (p.Gln8417Ter)
c.23689C>T (p.Gln7897Ter)
c.23182C>T (p.Gln7728Ter)
c.18649C>T (p.Gln6217Ter)
c.1915C>T (p.Gln639Ter)
c.25387C>T (p.Gln8463Ter)
c.25336C>T (p.Gln8446Ter)
c.25189C>T (p.Gln8397Ter)
6g.152140099G>CCA366080674SYNE1c.1843C>G (p.Gln615Glu)
c.25309C>G (p.Gln8437Glu)
c.25165C>G (p.Gln8389Glu)
c.711C>G
c.1044C>G
c.953C>G
c.1081C>G (p.Gln361Glu)
c.24094C>G (p.Gln8032Glu)
n.2057C>G
c.4144C>G (p.Gln1382Glu)
n.9001C>G
c.3247C>G (p.Gln1083Glu)
n.8893C>G
n.1923C>G
n.4331C>G
n.2146C>G
c.1774C>G (p.Gln592Glu)
c.25414C>G (p.Gln8472Glu)
c.25402C>G (p.Gln8468Glu)
c.25393C>G (p.Gln8465Glu)
c.25363C>G (p.Gln8455Glu)
c.25399C>G (p.Gln8467Glu)
c.25345C>G (p.Gln8449Glu)
c.25342C>G (p.Gln8448Glu)
c.25330C>G (p.Gln8444Glu)
c.25273C>G (p.Gln8425Glu)
c.25261C>G (p.Gln8421Glu)
c.25258C>G (p.Gln8420Glu)
c.25255C>G (p.Gln8419Glu)
c.25411C>G (p.Gln8471Glu)
c.25249C>G (p.Gln8417Glu)
c.23689C>G (p.Gln7897Glu)
c.23182C>G (p.Gln7728Glu)
c.18649C>G (p.Gln6217Glu)
c.1915C>G (p.Gln639Glu)
c.25387C>G (p.Gln8463Glu)
c.25336C>G (p.Gln8446Glu)
c.25189C>G (p.Gln8397Glu)
6g.152140099G>TCA366080677SYNE1c.1843C>A (p.Gln615Lys)
c.25309C>A (p.Gln8437Lys)
c.25165C>A (p.Gln8389Lys)
c.711C>A
c.1044C>A
c.953C>A
c.1081C>A (p.Gln361Lys)
c.24094C>A (p.Gln8032Lys)
n.2057C>A
c.4144C>A (p.Gln1382Lys)
n.9001C>A
c.3247C>A (p.Gln1083Lys)
n.8893C>A
n.1923C>A
n.4331C>A
n.2146C>A
c.1774C>A (p.Gln592Lys)
c.25414C>A (p.Gln8472Lys)
c.25402C>A (p.Gln8468Lys)
c.25393C>A (p.Gln8465Lys)
c.25363C>A (p.Gln8455Lys)
c.25399C>A (p.Gln8467Lys)
c.25345C>A (p.Gln8449Lys)
c.25342C>A (p.Gln8448Lys)
c.25330C>A (p.Gln8444Lys)
c.25273C>A (p.Gln8425Lys)
c.25261C>A (p.Gln8421Lys)
c.25258C>A (p.Gln8420Lys)
c.25255C>A (p.Gln8419Lys)
c.25411C>A (p.Gln8471Lys)
c.25249C>A (p.Gln8417Lys)
c.23689C>A (p.Gln7897Lys)
c.23182C>A (p.Gln7728Lys)
c.18649C>A (p.Gln6217Lys)
c.1915C>A (p.Gln639Lys)
c.25387C>A (p.Gln8463Lys)
c.25336C>A (p.Gln8446Lys)
c.25189C>A (p.Gln8397Lys)
6g.152140100C>ACA366080684SYNE1c.1842G>T (p.Lys614Asn)
c.25308G>T (p.Lys8436Asn)
c.25164G>T (p.Lys8388Asn)
c.710G>T
c.1043G>T
c.952G>T
c.1080G>T (p.Lys360Asn)
c.24093G>T (p.Lys8031Asn)
n.2056G>T
c.4143G>T (p.Lys1381Asn)
n.9000G>T
c.3246G>T (p.Lys1082Asn)
n.8892G>T
n.1922G>T
n.4330G>T
n.2145G>T
c.1773G>T (p.Lys591Asn)
c.25413G>T (p.Lys8471Asn)
c.25401G>T (p.Lys8467Asn)
c.25392G>T (p.Lys8464Asn)
c.25362G>T (p.Lys8454Asn)
c.25398G>T (p.Lys8466Asn)
c.25344G>T (p.Lys8448Asn)
c.25341G>T (p.Lys8447Asn)
c.25329G>T (p.Lys8443Asn)
c.25272G>T (p.Lys8424Asn)
c.25260G>T (p.Lys8420Asn)
c.25257G>T (p.Lys8419Asn)
c.25254G>T (p.Lys8418Asn)
c.25410G>T (p.Lys8470Asn)
c.25248G>T (p.Lys8416Asn)
c.23688G>T (p.Lys7896Asn)
c.23181G>T (p.Lys7727Asn)
c.18648G>T (p.Lys6216Asn)
c.1914G>T (p.Lys638Asn)
c.25386G>T (p.Lys8462Asn)
c.25335G>T (p.Lys8445Asn)
c.25188G>T (p.Lys8396Asn)
6g.152140100C=CA1673206360SYNE1c.1842G= (p.Lys614=)
c.25308G= (p.Lys8436=)
c.25164G= (p.Lys8388=)
c.710G=
c.1043G=
c.952G=
c.1080G= (p.Lys360=)
c.24093G= (p.Lys8031=)
n.2056G=
c.4143G= (p.Lys1381=)
n.9000G=
c.3246G= (p.Lys1082=)
n.8892G=
n.1922G=
n.4330G=
n.2145G=
c.1773G= (p.Lys591=)
c.25413G= (p.Lys8471=)
c.25401G= (p.Lys8467=)
c.25392G= (p.Lys8464=)
c.25362G= (p.Lys8454=)
c.25398G= (p.Lys8466=)
c.25344G= (p.Lys8448=)
c.25341G= (p.Lys8447=)
c.25329G= (p.Lys8443=)
c.25272G= (p.Lys8424=)
c.25260G= (p.Lys8420=)
c.25257G= (p.Lys8419=)
c.25254G= (p.Lys8418=)
c.25410G= (p.Lys8470=)
c.25248G= (p.Lys8416=)
c.23688G= (p.Lys7896=)
c.23181G= (p.Lys7727=)
c.18648G= (p.Lys6216=)
c.1914G= (p.Lys638=)
c.25386G= (p.Lys8462=)
c.25335G= (p.Lys8445=)
c.25188G= (p.Lys8396=)
6g.152140100C>GCA366080680SYNE1c.1842G>C (p.Lys614Asn)
c.25308G>C (p.Lys8436Asn)
c.25164G>C (p.Lys8388Asn)
c.710G>C
c.1043G>C
c.952G>C
c.1080G>C (p.Lys360Asn)
c.24093G>C (p.Lys8031Asn)
n.2056G>C
c.4143G>C (p.Lys1381Asn)
n.9000G>C
c.3246G>C (p.Lys1082Asn)
n.8892G>C
n.1922G>C
n.4330G>C
n.2145G>C
c.1773G>C (p.Lys591Asn)
c.25413G>C (p.Lys8471Asn)
c.25401G>C (p.Lys8467Asn)
c.25392G>C (p.Lys8464Asn)
c.25362G>C (p.Lys8454Asn)
c.25398G>C (p.Lys8466Asn)
c.25344G>C (p.Lys8448Asn)
c.25341G>C (p.Lys8447Asn)
c.25329G>C (p.Lys8443Asn)
c.25272G>C (p.Lys8424Asn)
c.25260G>C (p.Lys8420Asn)
c.25257G>C (p.Lys8419Asn)
c.25254G>C (p.Lys8418Asn)
c.25410G>C (p.Lys8470Asn)
c.25248G>C (p.Lys8416Asn)
c.23688G>C (p.Lys7896Asn)
c.23181G>C (p.Lys7727Asn)
c.18648G>C (p.Lys6216Asn)
c.1914G>C (p.Lys638Asn)
c.25386G>C (p.Lys8462Asn)
c.25335G>C (p.Lys8445Asn)
c.25188G>C (p.Lys8396Asn)
6g.152140100C>TCA452969940SYNE1c.1842G>A (p.Lys614=)
c.25308G>A (p.Lys8436=)
c.25164G>A (p.Lys8388=)
c.710G>A
c.1043G>A
c.952G>A
c.1080G>A (p.Lys360=)
c.24093G>A (p.Lys8031=)
n.2056G>A
c.4143G>A (p.Lys1381=)
n.9000G>A
c.3246G>A (p.Lys1082=)
n.8892G>A
n.1922G>A
n.4330G>A
n.2145G>A
c.1773G>A (p.Lys591=)
c.25413G>A (p.Lys8471=)
c.25401G>A (p.Lys8467=)
c.25392G>A (p.Lys8464=)
c.25362G>A (p.Lys8454=)
c.25398G>A (p.Lys8466=)
c.25344G>A (p.Lys8448=)
c.25341G>A (p.Lys8447=)
c.25329G>A (p.Lys8443=)
c.25272G>A (p.Lys8424=)
c.25260G>A (p.Lys8420=)
c.25257G>A (p.Lys8419=)
c.25254G>A (p.Lys8418=)
c.25410G>A (p.Lys8470=)
c.25248G>A (p.Lys8416=)
c.23688G>A (p.Lys7896=)
c.23181G>A (p.Lys7727=)
c.18648G>A (p.Lys6216=)
c.1914G>A (p.Lys638=)
c.25386G>A (p.Lys8462=)
c.25335G>A (p.Lys8445=)
c.25188G>A (p.Lys8396=)
 dbSNP gnomAD v3 gnomAD v4
6g.152140101T>ACA366080686SYNE1c.1841A>T (p.Lys614Met)
c.25307A>T (p.Lys8436Met)
c.25163A>T (p.Lys8388Met)
c.709A>T
c.1042A>T
c.951A>T
c.1079A>T (p.Lys360Met)
c.24092A>T (p.Lys8031Met)
n.2055A>T
c.4142A>T (p.Lys1381Met)
n.8999A>T
c.3245A>T (p.Lys1082Met)
n.8891A>T
n.1921A>T
n.4329A>T
n.2144A>T
c.1772A>T (p.Lys591Met)
c.25412A>T (p.Lys8471Met)
c.25400A>T (p.Lys8467Met)
c.25391A>T (p.Lys8464Met)
c.25361A>T (p.Lys8454Met)
c.25397A>T (p.Lys8466Met)
c.25343A>T (p.Lys8448Met)
c.25340A>T (p.Lys8447Met)
c.25328A>T (p.Lys8443Met)
c.25271A>T (p.Lys8424Met)
c.25259A>T (p.Lys8420Met)
c.25256A>T (p.Lys8419Met)
c.25253A>T (p.Lys8418Met)
c.25409A>T (p.Lys8470Met)
c.25247A>T (p.Lys8416Met)
c.23687A>T (p.Lys7896Met)
c.23180A>T (p.Lys7727Met)
c.18647A>T (p.Lys6216Met)
c.1913A>T (p.Lys638Met)
c.25385A>T (p.Lys8462Met)
c.25334A>T (p.Lys8445Met)
c.25187A>T (p.Lys8396Met)
6g.152140101T>CCA366080689SYNE1c.1841A>G (p.Lys614Arg)
c.25307A>G (p.Lys8436Arg)
c.25163A>G (p.Lys8388Arg)
c.709A>G
c.1042A>G
c.951A>G
c.1079A>G (p.Lys360Arg)
c.24092A>G (p.Lys8031Arg)
n.2055A>G
c.4142A>G (p.Lys1381Arg)
n.8999A>G
c.3245A>G (p.Lys1082Arg)
n.8891A>G
n.1921A>G
n.4329A>G
n.2144A>G
c.1772A>G (p.Lys591Arg)
c.25412A>G (p.Lys8471Arg)
c.25400A>G (p.Lys8467Arg)
c.25391A>G (p.Lys8464Arg)
c.25361A>G (p.Lys8454Arg)
c.25397A>G (p.Lys8466Arg)
c.25343A>G (p.Lys8448Arg)
c.25340A>G (p.Lys8447Arg)
c.25328A>G (p.Lys8443Arg)
c.25271A>G (p.Lys8424Arg)
c.25259A>G (p.Lys8420Arg)
c.25256A>G (p.Lys8419Arg)
c.25253A>G (p.Lys8418Arg)
c.25409A>G (p.Lys8470Arg)
c.25247A>G (p.Lys8416Arg)
c.23687A>G (p.Lys7896Arg)
c.23180A>G (p.Lys7727Arg)
c.18647A>G (p.Lys6216Arg)
c.1913A>G (p.Lys638Arg)
c.25385A>G (p.Lys8462Arg)
c.25334A>G (p.Lys8445Arg)
c.25187A>G (p.Lys8396Arg)
6g.152140101T>GCA366080691SYNE1c.1841A>C (p.Lys614Thr)
c.25307A>C (p.Lys8436Thr)
c.25163A>C (p.Lys8388Thr)
c.709A>C
c.1042A>C
c.951A>C
c.1079A>C (p.Lys360Thr)
c.24092A>C (p.Lys8031Thr)
n.2055A>C
c.4142A>C (p.Lys1381Thr)
n.8999A>C
c.3245A>C (p.Lys1082Thr)
n.8891A>C
n.1921A>C
n.4329A>C
n.2144A>C
c.1772A>C (p.Lys591Thr)
c.25412A>C (p.Lys8471Thr)
c.25400A>C (p.Lys8467Thr)
c.25391A>C (p.Lys8464Thr)
c.25361A>C (p.Lys8454Thr)
c.25397A>C (p.Lys8466Thr)
c.25343A>C (p.Lys8448Thr)
c.25340A>C (p.Lys8447Thr)
c.25328A>C (p.Lys8443Thr)
c.25271A>C (p.Lys8424Thr)
c.25259A>C (p.Lys8420Thr)
c.25256A>C (p.Lys8419Thr)
c.25253A>C (p.Lys8418Thr)
c.25409A>C (p.Lys8470Thr)
c.25247A>C (p.Lys8416Thr)
c.23687A>C (p.Lys7896Thr)
c.23180A>C (p.Lys7727Thr)
c.18647A>C (p.Lys6216Thr)
c.1913A>C (p.Lys638Thr)
c.25385A>C (p.Lys8462Thr)
c.25334A>C (p.Lys8445Thr)
c.25187A>C (p.Lys8396Thr)
6g.152140102T>ACA366080693SYNE1c.1840A>T (p.Lys614Ter)
c.25306A>T (p.Lys8436Ter)
c.25162A>T (p.Lys8388Ter)
c.708A>T
c.1041A>T
c.950A>T
c.1078A>T (p.Lys360Ter)
c.24091A>T (p.Lys8031Ter)
n.2054A>T
c.4141A>T (p.Lys1381Ter)
n.8998A>T
c.3244A>T (p.Lys1082Ter)
n.8890A>T
n.1920A>T
n.4328A>T
n.2143A>T
c.1771A>T (p.Lys591Ter)
c.25411A>T (p.Lys8471Ter)
c.25399A>T (p.Lys8467Ter)
c.25390A>T (p.Lys8464Ter)
c.25360A>T (p.Lys8454Ter)
c.25396A>T (p.Lys8466Ter)
c.25342A>T (p.Lys8448Ter)
c.25339A>T (p.Lys8447Ter)
c.25327A>T (p.Lys8443Ter)
c.25270A>T (p.Lys8424Ter)
c.25258A>T (p.Lys8420Ter)
c.25255A>T (p.Lys8419Ter)
c.25252A>T (p.Lys8418Ter)
c.25408A>T (p.Lys8470Ter)
c.25246A>T (p.Lys8416Ter)
c.23686A>T (p.Lys7896Ter)
c.23179A>T (p.Lys7727Ter)
c.18646A>T (p.Lys6216Ter)
c.1912A>T (p.Lys638Ter)
c.25384A>T (p.Lys8462Ter)
c.25333A>T (p.Lys8445Ter)
c.25186A>T (p.Lys8396Ter)
6g.152140102T>CCA366080696SYNE1c.1840A>G (p.Lys614Glu)
c.25306A>G (p.Lys8436Glu)
c.25162A>G (p.Lys8388Glu)
c.708A>G
c.1041A>G
c.950A>G
c.1078A>G (p.Lys360Glu)
c.24091A>G (p.Lys8031Glu)
n.2054A>G
c.4141A>G (p.Lys1381Glu)
n.8998A>G
c.3244A>G (p.Lys1082Glu)
n.8890A>G
n.1920A>G
n.4328A>G
n.2143A>G
c.1771A>G (p.Lys591Glu)
c.25411A>G (p.Lys8471Glu)
c.25399A>G (p.Lys8467Glu)
c.25390A>G (p.Lys8464Glu)
c.25360A>G (p.Lys8454Glu)
c.25396A>G (p.Lys8466Glu)
c.25342A>G (p.Lys8448Glu)
c.25339A>G (p.Lys8447Glu)
c.25327A>G (p.Lys8443Glu)
c.25270A>G (p.Lys8424Glu)
c.25258A>G (p.Lys8420Glu)
c.25255A>G (p.Lys8419Glu)
c.25252A>G (p.Lys8418Glu)
c.25408A>G (p.Lys8470Glu)
c.25246A>G (p.Lys8416Glu)
c.23686A>G (p.Lys7896Glu)
c.23179A>G (p.Lys7727Glu)
c.18646A>G (p.Lys6216Glu)
c.1912A>G (p.Lys638Glu)
c.25384A>G (p.Lys8462Glu)
c.25333A>G (p.Lys8445Glu)
c.25186A>G (p.Lys8396Glu)
6g.152140102T>GCA366080699SYNE1c.1840A>C (p.Lys614Gln)
c.25306A>C (p.Lys8436Gln)
c.25162A>C (p.Lys8388Gln)
c.708A>C
c.1041A>C
c.950A>C
c.1078A>C (p.Lys360Gln)
c.24091A>C (p.Lys8031Gln)
n.2054A>C
c.4141A>C (p.Lys1381Gln)
n.8998A>C
c.3244A>C (p.Lys1082Gln)
n.8890A>C
n.1920A>C
n.4328A>C
n.2143A>C
c.1771A>C (p.Lys591Gln)
c.25411A>C (p.Lys8471Gln)
c.25399A>C (p.Lys8467Gln)
c.25390A>C (p.Lys8464Gln)
c.25360A>C (p.Lys8454Gln)
c.25396A>C (p.Lys8466Gln)
c.25342A>C (p.Lys8448Gln)
c.25339A>C (p.Lys8447Gln)
c.25327A>C (p.Lys8443Gln)
c.25270A>C (p.Lys8424Gln)
c.25258A>C (p.Lys8420Gln)
c.25255A>C (p.Lys8419Gln)
c.25252A>C (p.Lys8418Gln)
c.25408A>C (p.Lys8470Gln)
c.25246A>C (p.Lys8416Gln)
c.23686A>C (p.Lys7896Gln)
c.23179A>C (p.Lys7727Gln)
c.18646A>C (p.Lys6216Gln)
c.1912A>C (p.Lys638Gln)
c.25384A>C (p.Lys8462Gln)
c.25333A>C (p.Lys8445Gln)
c.25186A>C (p.Lys8396Gln)
6g.152140103C>ACA10604918SYNE1c.1839G>T (p.Met613Ile)
c.25305G>T (p.Met8435Ile)
c.25161G>T (p.Met8387Ile)
c.707G>T
c.1040G>T
c.949G>T
c.1077G>T (p.Met359Ile)
c.24090G>T (p.Met8030Ile)
n.2053G>T
c.4140G>T (p.Met1380Ile)
n.8997G>T
c.3243G>T (p.Met1081Ile)
n.8889G>T
n.1919G>T
n.4327G>T
n.2142G>T
c.1770G>T (p.Met590Ile)
c.25410G>T (p.Met8470Ile)
c.25398G>T (p.Met8466Ile)
c.25389G>T (p.Met8463Ile)
c.25359G>T (p.Met8453Ile)
c.25395G>T (p.Met8465Ile)
c.25341G>T (p.Met8447Ile)
c.25338G>T (p.Met8446Ile)
c.25326G>T (p.Met8442Ile)
c.25269G>T (p.Met8423Ile)
c.25257G>T (p.Met8419Ile)
c.25254G>T (p.Met8418Ile)
c.25251G>T (p.Met8417Ile)
c.25407G>T (p.Met8469Ile)
c.25245G>T (p.Met8415Ile)
c.23685G>T (p.Met7895Ile)
c.23178G>T (p.Met7726Ile)
c.18645G>T (p.Met6215Ile)
c.1911G>T (p.Met637Ile)
c.25383G>T (p.Met8461Ile)
c.25332G>T (p.Met8444Ile)
c.25185G>T (p.Met8395Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152140103C=CA1673206365SYNE1c.1839G= (p.Met613=)
c.25305G= (p.Met8435=)
c.25161G= (p.Met8387=)
c.707G=
c.1040G=
c.949G=
c.1077G= (p.Met359=)
c.24090G= (p.Met8030=)
n.2053G=
c.4140G= (p.Met1380=)
n.8997G=
c.3243G= (p.Met1081=)
n.8889G=
n.1919G=
n.4327G=
n.2142G=
c.1770G= (p.Met590=)
c.25410G= (p.Met8470=)
c.25398G= (p.Met8466=)
c.25389G= (p.Met8463=)
c.25359G= (p.Met8453=)
c.25395G= (p.Met8465=)
c.25341G= (p.Met8447=)
c.25338G= (p.Met8446=)
c.25326G= (p.Met8442=)
c.25269G= (p.Met8423=)
c.25257G= (p.Met8419=)
c.25254G= (p.Met8418=)
c.25251G= (p.Met8417=)
c.25407G= (p.Met8469=)
c.25245G= (p.Met8415=)
c.23685G= (p.Met7895=)
c.23178G= (p.Met7726=)
c.18645G= (p.Met6215=)
c.1911G= (p.Met637=)
c.25383G= (p.Met8461=)
c.25332G= (p.Met8444=)
c.25185G= (p.Met8395=)
6g.152140103C>GCA366080707SYNE1c.1839G>C (p.Met613Ile)
c.25305G>C (p.Met8435Ile)
c.25161G>C (p.Met8387Ile)
c.707G>C
c.1040G>C
c.949G>C
c.1077G>C (p.Met359Ile)
c.24090G>C (p.Met8030Ile)
n.2053G>C
c.4140G>C (p.Met1380Ile)
n.8997G>C
c.3243G>C (p.Met1081Ile)
n.8889G>C
n.1919G>C
n.4327G>C
n.2142G>C
c.1770G>C (p.Met590Ile)
c.25410G>C (p.Met8470Ile)
c.25398G>C (p.Met8466Ile)
c.25389G>C (p.Met8463Ile)
c.25359G>C (p.Met8453Ile)
c.25395G>C (p.Met8465Ile)
c.25341G>C (p.Met8447Ile)
c.25338G>C (p.Met8446Ile)
c.25326G>C (p.Met8442Ile)
c.25269G>C (p.Met8423Ile)
c.25257G>C (p.Met8419Ile)
c.25254G>C (p.Met8418Ile)
c.25251G>C (p.Met8417Ile)
c.25407G>C (p.Met8469Ile)
c.25245G>C (p.Met8415Ile)
c.23685G>C (p.Met7895Ile)
c.23178G>C (p.Met7726Ile)
c.18645G>C (p.Met6215Ile)
c.1911G>C (p.Met637Ile)
c.25383G>C (p.Met8461Ile)
c.25332G>C (p.Met8444Ile)
c.25185G>C (p.Met8395Ile)
6g.152140103C>TCA366080704SYNE1c.1839G>A (p.Met613Ile)
c.25305G>A (p.Met8435Ile)
c.25161G>A (p.Met8387Ile)
c.707G>A
c.1040G>A
c.949G>A
c.1077G>A (p.Met359Ile)
c.24090G>A (p.Met8030Ile)
n.2053G>A
c.4140G>A (p.Met1380Ile)
n.8997G>A
c.3243G>A (p.Met1081Ile)
n.8889G>A
n.1919G>A
n.4327G>A
n.2142G>A
c.1770G>A (p.Met590Ile)
c.25410G>A (p.Met8470Ile)
c.25398G>A (p.Met8466Ile)
c.25389G>A (p.Met8463Ile)
c.25359G>A (p.Met8453Ile)
c.25395G>A (p.Met8465Ile)
c.25341G>A (p.Met8447Ile)
c.25338G>A (p.Met8446Ile)
c.25326G>A (p.Met8442Ile)
c.25269G>A (p.Met8423Ile)
c.25257G>A (p.Met8419Ile)
c.25254G>A (p.Met8418Ile)
c.25251G>A (p.Met8417Ile)
c.25407G>A (p.Met8469Ile)
c.25245G>A (p.Met8415Ile)
c.23685G>A (p.Met7895Ile)
c.23178G>A (p.Met7726Ile)
c.18645G>A (p.Met6215Ile)
c.1911G>A (p.Met637Ile)
c.25383G>A (p.Met8461Ile)
c.25332G>A (p.Met8444Ile)
c.25185G>A (p.Met8395Ile)
6g.152140104A>CCA366080711SYNE1c.1838T>G (p.Met613Arg)
c.25304T>G (p.Met8435Arg)
c.25160T>G (p.Met8387Arg)
c.706T>G
c.1039T>G
c.948T>G
c.1076T>G (p.Met359Arg)
c.24089T>G (p.Met8030Arg)
n.2052T>G
c.4139T>G (p.Met1380Arg)
n.8996T>G
c.3242T>G (p.Met1081Arg)
n.8888T>G
n.1918T>G
n.4326T>G
n.2141T>G
c.1769T>G (p.Met590Arg)
c.25409T>G (p.Met8470Arg)
c.25397T>G (p.Met8466Arg)
c.25388T>G (p.Met8463Arg)
c.25358T>G (p.Met8453Arg)
c.25394T>G (p.Met8465Arg)
c.25340T>G (p.Met8447Arg)
c.25337T>G (p.Met8446Arg)
c.25325T>G (p.Met8442Arg)
c.25268T>G (p.Met8423Arg)
c.25256T>G (p.Met8419Arg)
c.25253T>G (p.Met8418Arg)
c.25250T>G (p.Met8417Arg)
c.25406T>G (p.Met8469Arg)
c.25244T>G (p.Met8415Arg)
c.23684T>G (p.Met7895Arg)
c.23177T>G (p.Met7726Arg)
c.18644T>G (p.Met6215Arg)
c.1910T>G (p.Met637Arg)
c.25382T>G (p.Met8461Arg)
c.25331T>G (p.Met8444Arg)
c.25184T>G (p.Met8395Arg)
6g.152140104A>GCA366080720SYNE1c.1838T>C (p.Met613Thr)
c.25304T>C (p.Met8435Thr)
c.25160T>C (p.Met8387Thr)
c.706T>C
c.1039T>C
c.948T>C
c.1076T>C (p.Met359Thr)
c.24089T>C (p.Met8030Thr)
n.2052T>C
c.4139T>C (p.Met1380Thr)
n.8996T>C
c.3242T>C (p.Met1081Thr)
n.8888T>C
n.1918T>C
n.4326T>C
n.2141T>C
c.1769T>C (p.Met590Thr)
c.25409T>C (p.Met8470Thr)
c.25397T>C (p.Met8466Thr)
c.25388T>C (p.Met8463Thr)
c.25358T>C (p.Met8453Thr)
c.25394T>C (p.Met8465Thr)
c.25340T>C (p.Met8447Thr)
c.25337T>C (p.Met8446Thr)
c.25325T>C (p.Met8442Thr)
c.25268T>C (p.Met8423Thr)
c.25256T>C (p.Met8419Thr)
c.25253T>C (p.Met8418Thr)
c.25250T>C (p.Met8417Thr)
c.25406T>C (p.Met8469Thr)
c.25244T>C (p.Met8415Thr)
c.23684T>C (p.Met7895Thr)
c.23177T>C (p.Met7726Thr)
c.18644T>C (p.Met6215Thr)
c.1910T>C (p.Met637Thr)
c.25382T>C (p.Met8461Thr)
c.25331T>C (p.Met8444Thr)
c.25184T>C (p.Met8395Thr)
6g.152140104A>TCA366080724SYNE1c.1838T>A (p.Met613Lys)
c.25304T>A (p.Met8435Lys)
c.25160T>A (p.Met8387Lys)
c.706T>A
c.1039T>A
c.948T>A
c.1076T>A (p.Met359Lys)
c.24089T>A (p.Met8030Lys)
n.2052T>A
c.4139T>A (p.Met1380Lys)
n.8996T>A
c.3242T>A (p.Met1081Lys)
n.8888T>A
n.1918T>A
n.4326T>A
n.2141T>A
c.1769T>A (p.Met590Lys)
c.25409T>A (p.Met8470Lys)
c.25397T>A (p.Met8466Lys)
c.25388T>A (p.Met8463Lys)
c.25358T>A (p.Met8453Lys)
c.25394T>A (p.Met8465Lys)
c.25340T>A (p.Met8447Lys)
c.25337T>A (p.Met8446Lys)
c.25325T>A (p.Met8442Lys)
c.25268T>A (p.Met8423Lys)
c.25256T>A (p.Met8419Lys)
c.25253T>A (p.Met8418Lys)
c.25250T>A (p.Met8417Lys)
c.25406T>A (p.Met8469Lys)
c.25244T>A (p.Met8415Lys)
c.23684T>A (p.Met7895Lys)
c.23177T>A (p.Met7726Lys)
c.18644T>A (p.Met6215Lys)
c.1910T>A (p.Met637Lys)
c.25382T>A (p.Met8461Lys)
c.25331T>A (p.Met8444Lys)
c.25184T>A (p.Met8395Lys)
6g.152140105T>ACA366080727SYNE1c.1837A>T (p.Met613Leu)
c.25303A>T (p.Met8435Leu)
c.25159A>T (p.Met8387Leu)
c.705A>T
c.1038A>T
c.947A>T
c.1075A>T (p.Met359Leu)
c.24088A>T (p.Met8030Leu)
n.2051A>T
c.4138A>T (p.Met1380Leu)
n.8995A>T
c.3241A>T (p.Met1081Leu)
n.8887A>T
n.1917A>T
n.4325A>T
n.2140A>T
c.1768A>T (p.Met590Leu)
c.25408A>T (p.Met8470Leu)
c.25396A>T (p.Met8466Leu)
c.25387A>T (p.Met8463Leu)
c.25357A>T (p.Met8453Leu)
c.25393A>T (p.Met8465Leu)
c.25339A>T (p.Met8447Leu)
c.25336A>T (p.Met8446Leu)
c.25324A>T (p.Met8442Leu)
c.25267A>T (p.Met8423Leu)
c.25255A>T (p.Met8419Leu)
c.25252A>T (p.Met8418Leu)
c.25249A>T (p.Met8417Leu)
c.25405A>T (p.Met8469Leu)
c.25243A>T (p.Met8415Leu)
c.23683A>T (p.Met7895Leu)
c.23176A>T (p.Met7726Leu)
c.18643A>T (p.Met6215Leu)
c.1909A>T (p.Met637Leu)
c.25381A>T (p.Met8461Leu)
c.25330A>T (p.Met8444Leu)
c.25183A>T (p.Met8395Leu)
6g.152140105T>CCA366080728SYNE1c.1837A>G (p.Met613Val)
c.25303A>G (p.Met8435Val)
c.25159A>G (p.Met8387Val)
c.705A>G
c.1038A>G
c.947A>G
c.1075A>G (p.Met359Val)
c.24088A>G (p.Met8030Val)
n.2051A>G
c.4138A>G (p.Met1380Val)
n.8995A>G
c.3241A>G (p.Met1081Val)
n.8887A>G
n.1917A>G
n.4325A>G
n.2140A>G
c.1768A>G (p.Met590Val)
c.25408A>G (p.Met8470Val)
c.25396A>G (p.Met8466Val)
c.25387A>G (p.Met8463Val)
c.25357A>G (p.Met8453Val)
c.25393A>G (p.Met8465Val)
c.25339A>G (p.Met8447Val)
c.25336A>G (p.Met8446Val)
c.25324A>G (p.Met8442Val)
c.25267A>G (p.Met8423Val)
c.25255A>G (p.Met8419Val)
c.25252A>G (p.Met8418Val)
c.25249A>G (p.Met8417Val)
c.25405A>G (p.Met8469Val)
c.25243A>G (p.Met8415Val)
c.23683A>G (p.Met7895Val)
c.23176A>G (p.Met7726Val)
c.18643A>G (p.Met6215Val)
c.1909A>G (p.Met637Val)
c.25381A>G (p.Met8461Val)
c.25330A>G (p.Met8444Val)
c.25183A>G (p.Met8395Val)
 COSMIC COSMIC
6g.152140105T>GCA366080731SYNE1c.1837A>C (p.Met613Leu)
c.25303A>C (p.Met8435Leu)
c.25159A>C (p.Met8387Leu)
c.705A>C
c.1038A>C
c.947A>C
c.1075A>C (p.Met359Leu)
c.24088A>C (p.Met8030Leu)
n.2051A>C
c.4138A>C (p.Met1380Leu)
n.8995A>C
c.3241A>C (p.Met1081Leu)
n.8887A>C
n.1917A>C
n.4325A>C
n.2140A>C
c.1768A>C (p.Met590Leu)
c.25408A>C (p.Met8470Leu)
c.25396A>C (p.Met8466Leu)
c.25387A>C (p.Met8463Leu)
c.25357A>C (p.Met8453Leu)
c.25393A>C (p.Met8465Leu)
c.25339A>C (p.Met8447Leu)
c.25336A>C (p.Met8446Leu)
c.25324A>C (p.Met8442Leu)
c.25267A>C (p.Met8423Leu)
c.25255A>C (p.Met8419Leu)
c.25252A>C (p.Met8418Leu)
c.25249A>C (p.Met8417Leu)
c.25405A>C (p.Met8469Leu)
c.25243A>C (p.Met8415Leu)
c.23683A>C (p.Met7895Leu)
c.23176A>C (p.Met7726Leu)
c.18643A>C (p.Met6215Leu)
c.1909A>C (p.Met637Leu)
c.25381A>C (p.Met8461Leu)
c.25330A>C (p.Met8444Leu)
c.25183A>C (p.Met8395Leu)
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)

Number of alleles fetched