Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152151928C>ACA2713125360SYNE1c.777+31G>T (n.777+31G>T)
c.24312+31G>T (n.24312+31G>T)
c.24099+31G>T (n.24099+31G>T)
c.47+31G>T
c.226+31G>T
c.84+31G>T (n.84+31G>T)
c.23097+31G>T (n.23097+31G>T)
n.991+31G>T
c.3078+31G>T (n.3078+31G>T)
n.8004+31G>T
c.2250+31G>T (n.2250+31G>T)
n.7896+31G>T
n.857+31G>T
n.374+31G>T
n.1149+31G>T
c.24348+31G>T (n.24348+31G>T)
c.24336+31G>T (n.24336+31G>T)
c.24327+31G>T (n.24327+31G>T)
c.24297+31G>T (n.24297+31G>T)
c.24333+31G>T (n.24333+31G>T)
c.24276+31G>T (n.24276+31G>T)
c.24207+31G>T (n.24207+31G>T)
c.24195+31G>T (n.24195+31G>T)
c.24192+31G>T (n.24192+31G>T)
c.24189+31G>T (n.24189+31G>T)
c.24345+31G>T (n.24345+31G>T)
c.24183+31G>T (n.24183+31G>T)
c.22623+31G>T (n.22623+31G>T)
c.22116+31G>T (n.22116+31G>T)
c.17583+31G>T (n.17583+31G>T)
c.918+31G>T (n.918+31G>T)
c.24321+31G>T (n.24321+31G>T)
c.24270+31G>T (n.24270+31G>T)
 dbSNP
6g.152151928C=CA1673186641SYNE1c.777+31G= (n.777+31G=)
c.24312+31G= (n.24312+31G=)
c.24099+31G= (n.24099+31G=)
c.47+31G=
c.226+31G=
c.84+31G= (n.84+31G=)
c.23097+31G= (n.23097+31G=)
n.991+31G=
c.3078+31G= (n.3078+31G=)
n.8004+31G=
c.2250+31G= (n.2250+31G=)
n.7896+31G=
n.857+31G=
n.374+31G=
n.1149+31G=
c.24348+31G= (n.24348+31G=)
c.24336+31G= (n.24336+31G=)
c.24327+31G= (n.24327+31G=)
c.24297+31G= (n.24297+31G=)
c.24333+31G= (n.24333+31G=)
c.24276+31G= (n.24276+31G=)
c.24207+31G= (n.24207+31G=)
c.24195+31G= (n.24195+31G=)
c.24192+31G= (n.24192+31G=)
c.24189+31G= (n.24189+31G=)
c.24345+31G= (n.24345+31G=)
c.24183+31G= (n.24183+31G=)
c.22623+31G= (n.22623+31G=)
c.22116+31G= (n.22116+31G=)
c.17583+31G= (n.17583+31G=)
c.918+31G= (n.918+31G=)
c.24321+31G= (n.24321+31G=)
c.24270+31G= (n.24270+31G=)
6g.152151928C>GCA2680816865SYNE1c.777+31G>C (n.777+31G>C)
c.24312+31G>C (n.24312+31G>C)
c.24099+31G>C (n.24099+31G>C)
c.47+31G>C
c.226+31G>C
c.84+31G>C (n.84+31G>C)
c.23097+31G>C (n.23097+31G>C)
n.991+31G>C
c.3078+31G>C (n.3078+31G>C)
n.8004+31G>C
c.2250+31G>C (n.2250+31G>C)
n.7896+31G>C
n.857+31G>C
n.374+31G>C
n.1149+31G>C
c.24348+31G>C (n.24348+31G>C)
c.24336+31G>C (n.24336+31G>C)
c.24327+31G>C (n.24327+31G>C)
c.24297+31G>C (n.24297+31G>C)
c.24333+31G>C (n.24333+31G>C)
c.24276+31G>C (n.24276+31G>C)
c.24207+31G>C (n.24207+31G>C)
c.24195+31G>C (n.24195+31G>C)
c.24192+31G>C (n.24192+31G>C)
c.24189+31G>C (n.24189+31G>C)
c.24345+31G>C (n.24345+31G>C)
c.24183+31G>C (n.24183+31G>C)
c.22623+31G>C (n.22623+31G>C)
c.22116+31G>C (n.22116+31G>C)
c.17583+31G>C (n.17583+31G>C)
c.918+31G>C (n.918+31G>C)
c.24321+31G>C (n.24321+31G>C)
c.24270+31G>C (n.24270+31G>C)
 gnomAD v4
6g.152151928C>TCA4053212SYNE1c.777+31G>A (n.777+31G>A)
c.24312+31G>A (n.24312+31G>A)
c.24099+31G>A (n.24099+31G>A)
c.47+31G>A
c.226+31G>A
c.84+31G>A (n.84+31G>A)
c.23097+31G>A (n.23097+31G>A)
n.991+31G>A
c.3078+31G>A (n.3078+31G>A)
n.8004+31G>A
c.2250+31G>A (n.2250+31G>A)
n.7896+31G>A
n.857+31G>A
n.374+31G>A
n.1149+31G>A
c.24348+31G>A (n.24348+31G>A)
c.24336+31G>A (n.24336+31G>A)
c.24327+31G>A (n.24327+31G>A)
c.24297+31G>A (n.24297+31G>A)
c.24333+31G>A (n.24333+31G>A)
c.24276+31G>A (n.24276+31G>A)
c.24207+31G>A (n.24207+31G>A)
c.24195+31G>A (n.24195+31G>A)
c.24192+31G>A (n.24192+31G>A)
c.24189+31G>A (n.24189+31G>A)
c.24345+31G>A (n.24345+31G>A)
c.24183+31G>A (n.24183+31G>A)
c.22623+31G>A (n.22623+31G>A)
c.22116+31G>A (n.22116+31G>A)
c.17583+31G>A (n.17583+31G>A)
c.918+31G>A (n.918+31G>A)
c.24321+31G>A (n.24321+31G>A)
c.24270+31G>A (n.24270+31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152151930C>ACA1095929580SYNE1c.777+29G>T (n.777+29G>T)
c.24312+29G>T (n.24312+29G>T)
c.24099+29G>T (n.24099+29G>T)
c.47+29G>T
c.226+29G>T
c.84+29G>T (n.84+29G>T)
c.23097+29G>T (n.23097+29G>T)
n.991+29G>T
c.3078+29G>T (n.3078+29G>T)
n.8004+29G>T
c.2250+29G>T (n.2250+29G>T)
n.7896+29G>T
n.857+29G>T
n.374+29G>T
n.1149+29G>T
c.24348+29G>T (n.24348+29G>T)
c.24336+29G>T (n.24336+29G>T)
c.24327+29G>T (n.24327+29G>T)
c.24297+29G>T (n.24297+29G>T)
c.24333+29G>T (n.24333+29G>T)
c.24276+29G>T (n.24276+29G>T)
c.24207+29G>T (n.24207+29G>T)
c.24195+29G>T (n.24195+29G>T)
c.24192+29G>T (n.24192+29G>T)
c.24189+29G>T (n.24189+29G>T)
c.24345+29G>T (n.24345+29G>T)
c.24183+29G>T (n.24183+29G>T)
c.22623+29G>T (n.22623+29G>T)
c.22116+29G>T (n.22116+29G>T)
c.17583+29G>T (n.17583+29G>T)
c.918+29G>T (n.918+29G>T)
c.24321+29G>T (n.24321+29G>T)
c.24270+29G>T (n.24270+29G>T)
 dbSNP gnomAD v3 gnomAD v4
6g.152151930C=CA1673186642SYNE1c.777+29G= (n.777+29G=)
c.24312+29G= (n.24312+29G=)
c.24099+29G= (n.24099+29G=)
c.47+29G=
c.226+29G=
c.84+29G= (n.84+29G=)
c.23097+29G= (n.23097+29G=)
n.991+29G=
c.3078+29G= (n.3078+29G=)
n.8004+29G=
c.2250+29G= (n.2250+29G=)
n.7896+29G=
n.857+29G=
n.374+29G=
n.1149+29G=
c.24348+29G= (n.24348+29G=)
c.24336+29G= (n.24336+29G=)
c.24327+29G= (n.24327+29G=)
c.24297+29G= (n.24297+29G=)
c.24333+29G= (n.24333+29G=)
c.24276+29G= (n.24276+29G=)
c.24207+29G= (n.24207+29G=)
c.24195+29G= (n.24195+29G=)
c.24192+29G= (n.24192+29G=)
c.24189+29G= (n.24189+29G=)
c.24345+29G= (n.24345+29G=)
c.24183+29G= (n.24183+29G=)
c.22623+29G= (n.22623+29G=)
c.22116+29G= (n.22116+29G=)
c.17583+29G= (n.17583+29G=)
c.918+29G= (n.918+29G=)
c.24321+29G= (n.24321+29G=)
c.24270+29G= (n.24270+29G=)
6g.152151930C>GCA651263228SYNE1c.777+29G>C (n.777+29G>C)
c.24312+29G>C (n.24312+29G>C)
c.24099+29G>C (n.24099+29G>C)
c.47+29G>C
c.226+29G>C
c.84+29G>C (n.84+29G>C)
c.23097+29G>C (n.23097+29G>C)
n.991+29G>C
c.3078+29G>C (n.3078+29G>C)
n.8004+29G>C
c.2250+29G>C (n.2250+29G>C)
n.7896+29G>C
n.857+29G>C
n.374+29G>C
n.1149+29G>C
c.24348+29G>C (n.24348+29G>C)
c.24336+29G>C (n.24336+29G>C)
c.24327+29G>C (n.24327+29G>C)
c.24297+29G>C (n.24297+29G>C)
c.24333+29G>C (n.24333+29G>C)
c.24276+29G>C (n.24276+29G>C)
c.24207+29G>C (n.24207+29G>C)
c.24195+29G>C (n.24195+29G>C)
c.24192+29G>C (n.24192+29G>C)
c.24189+29G>C (n.24189+29G>C)
c.24345+29G>C (n.24345+29G>C)
c.24183+29G>C (n.24183+29G>C)
c.22623+29G>C (n.22623+29G>C)
c.22116+29G>C (n.22116+29G>C)
c.17583+29G>C (n.17583+29G>C)
c.918+29G>C (n.918+29G>C)
c.24321+29G>C (n.24321+29G>C)
c.24270+29G>C (n.24270+29G>C)
 COSMIC
6g.152151931T>CCA2680816866SYNE1c.777+28A>G (n.777+28A>G)
c.24312+28A>G (n.24312+28A>G)
c.24099+28A>G (n.24099+28A>G)
c.47+28A>G
c.226+28A>G
c.84+28A>G (n.84+28A>G)
c.23097+28A>G (n.23097+28A>G)
n.991+28A>G
c.3078+28A>G (n.3078+28A>G)
n.8004+28A>G
c.2250+28A>G (n.2250+28A>G)
n.7896+28A>G
n.857+28A>G
n.374+28A>G
n.1149+28A>G
c.24348+28A>G (n.24348+28A>G)
c.24336+28A>G (n.24336+28A>G)
c.24327+28A>G (n.24327+28A>G)
c.24297+28A>G (n.24297+28A>G)
c.24333+28A>G (n.24333+28A>G)
c.24276+28A>G (n.24276+28A>G)
c.24207+28A>G (n.24207+28A>G)
c.24195+28A>G (n.24195+28A>G)
c.24192+28A>G (n.24192+28A>G)
c.24189+28A>G (n.24189+28A>G)
c.24345+28A>G (n.24345+28A>G)
c.24183+28A>G (n.24183+28A>G)
c.22623+28A>G (n.22623+28A>G)
c.22116+28A>G (n.22116+28A>G)
c.17583+28A>G (n.17583+28A>G)
c.918+28A>G (n.918+28A>G)
c.24321+28A>G (n.24321+28A>G)
c.24270+28A>G (n.24270+28A>G)
 gnomAD v4
6g.152151933A=CA1673186644SYNE1c.777+26T= (n.777+26T=)
c.24312+26T= (n.24312+26T=)
c.24099+26T= (n.24099+26T=)
c.47+26T=
c.226+26T=
c.84+26T= (n.84+26T=)
c.23097+26T= (n.23097+26T=)
n.991+26T=
c.3078+26T= (n.3078+26T=)
n.8004+26T=
c.2250+26T= (n.2250+26T=)
n.7896+26T=
n.857+26T=
n.374+26T=
n.1149+26T=
c.24348+26T= (n.24348+26T=)
c.24336+26T= (n.24336+26T=)
c.24327+26T= (n.24327+26T=)
c.24297+26T= (n.24297+26T=)
c.24333+26T= (n.24333+26T=)
c.24276+26T= (n.24276+26T=)
c.24207+26T= (n.24207+26T=)
c.24195+26T= (n.24195+26T=)
c.24192+26T= (n.24192+26T=)
c.24189+26T= (n.24189+26T=)
c.24345+26T= (n.24345+26T=)
c.24183+26T= (n.24183+26T=)
c.22623+26T= (n.22623+26T=)
c.22116+26T= (n.22116+26T=)
c.17583+26T= (n.17583+26T=)
c.918+26T= (n.918+26T=)
c.24321+26T= (n.24321+26T=)
c.24270+26T= (n.24270+26T=)
6g.152151933A>TCA4053213SYNE1c.777+26T>A (n.777+26T>A)
c.24312+26T>A (n.24312+26T>A)
c.24099+26T>A (n.24099+26T>A)
c.47+26T>A
c.226+26T>A
c.84+26T>A (n.84+26T>A)
c.23097+26T>A (n.23097+26T>A)
n.991+26T>A
c.3078+26T>A (n.3078+26T>A)
n.8004+26T>A
c.2250+26T>A (n.2250+26T>A)
n.7896+26T>A
n.857+26T>A
n.374+26T>A
n.1149+26T>A
c.24348+26T>A (n.24348+26T>A)
c.24336+26T>A (n.24336+26T>A)
c.24327+26T>A (n.24327+26T>A)
c.24297+26T>A (n.24297+26T>A)
c.24333+26T>A (n.24333+26T>A)
c.24276+26T>A (n.24276+26T>A)
c.24207+26T>A (n.24207+26T>A)
c.24195+26T>A (n.24195+26T>A)
c.24192+26T>A (n.24192+26T>A)
c.24189+26T>A (n.24189+26T>A)
c.24345+26T>A (n.24345+26T>A)
c.24183+26T>A (n.24183+26T>A)
c.22623+26T>A (n.22623+26T>A)
c.22116+26T>A (n.22116+26T>A)
c.17583+26T>A (n.17583+26T>A)
c.918+26T>A (n.918+26T>A)
c.24321+26T>A (n.24321+26T>A)
c.24270+26T>A (n.24270+26T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151935T>ACA2680816867SYNE1c.777+24A>T (n.777+24A>T)
c.24312+24A>T (n.24312+24A>T)
c.24099+24A>T (n.24099+24A>T)
c.47+24A>T
c.226+24A>T
c.84+24A>T (n.84+24A>T)
c.23097+24A>T (n.23097+24A>T)
n.991+24A>T
c.3078+24A>T (n.3078+24A>T)
n.8004+24A>T
c.2250+24A>T (n.2250+24A>T)
n.7896+24A>T
n.857+24A>T
n.374+24A>T
n.1149+24A>T
c.24348+24A>T (n.24348+24A>T)
c.24336+24A>T (n.24336+24A>T)
c.24327+24A>T (n.24327+24A>T)
c.24297+24A>T (n.24297+24A>T)
c.24333+24A>T (n.24333+24A>T)
c.24276+24A>T (n.24276+24A>T)
c.24207+24A>T (n.24207+24A>T)
c.24195+24A>T (n.24195+24A>T)
c.24192+24A>T (n.24192+24A>T)
c.24189+24A>T (n.24189+24A>T)
c.24345+24A>T (n.24345+24A>T)
c.24183+24A>T (n.24183+24A>T)
c.22623+24A>T (n.22623+24A>T)
c.22116+24A>T (n.22116+24A>T)
c.17583+24A>T (n.17583+24A>T)
c.918+24A>T (n.918+24A>T)
c.24321+24A>T (n.24321+24A>T)
c.24270+24A>T (n.24270+24A>T)
 gnomAD v4
6g.152151937A>GCA2680816868SYNE1c.777+22T>C (n.777+22T>C)
c.24312+22T>C (n.24312+22T>C)
c.24099+22T>C (n.24099+22T>C)
c.47+22T>C
c.226+22T>C
c.84+22T>C (n.84+22T>C)
c.23097+22T>C (n.23097+22T>C)
n.991+22T>C
c.3078+22T>C (n.3078+22T>C)
n.8004+22T>C
c.2250+22T>C (n.2250+22T>C)
n.7896+22T>C
n.857+22T>C
n.374+22T>C
n.1149+22T>C
c.24348+22T>C (n.24348+22T>C)
c.24336+22T>C (n.24336+22T>C)
c.24327+22T>C (n.24327+22T>C)
c.24297+22T>C (n.24297+22T>C)
c.24333+22T>C (n.24333+22T>C)
c.24276+22T>C (n.24276+22T>C)
c.24207+22T>C (n.24207+22T>C)
c.24195+22T>C (n.24195+22T>C)
c.24192+22T>C (n.24192+22T>C)
c.24189+22T>C (n.24189+22T>C)
c.24345+22T>C (n.24345+22T>C)
c.24183+22T>C (n.24183+22T>C)
c.22623+22T>C (n.22623+22T>C)
c.22116+22T>C (n.22116+22T>C)
c.17583+22T>C (n.17583+22T>C)
c.918+22T>C (n.918+22T>C)
c.24321+22T>C (n.24321+22T>C)
c.24270+22T>C (n.24270+22T>C)
 gnomAD v4
6g.152151938C>ACA2680816869SYNE1c.777+21G>T (n.777+21G>T)
c.24312+21G>T (n.24312+21G>T)
c.24099+21G>T (n.24099+21G>T)
c.47+21G>T
c.226+21G>T
c.84+21G>T (n.84+21G>T)
c.23097+21G>T (n.23097+21G>T)
n.991+21G>T
c.3078+21G>T (n.3078+21G>T)
n.8004+21G>T
c.2250+21G>T (n.2250+21G>T)
n.7896+21G>T
n.857+21G>T
n.374+21G>T
n.1149+21G>T
c.24348+21G>T (n.24348+21G>T)
c.24336+21G>T (n.24336+21G>T)
c.24327+21G>T (n.24327+21G>T)
c.24297+21G>T (n.24297+21G>T)
c.24333+21G>T (n.24333+21G>T)
c.24276+21G>T (n.24276+21G>T)
c.24207+21G>T (n.24207+21G>T)
c.24195+21G>T (n.24195+21G>T)
c.24192+21G>T (n.24192+21G>T)
c.24189+21G>T (n.24189+21G>T)
c.24345+21G>T (n.24345+21G>T)
c.24183+21G>T (n.24183+21G>T)
c.22623+21G>T (n.22623+21G>T)
c.22116+21G>T (n.22116+21G>T)
c.17583+21G>T (n.17583+21G>T)
c.918+21G>T (n.918+21G>T)
c.24321+21G>T (n.24321+21G>T)
c.24270+21G>T (n.24270+21G>T)
 gnomAD v4
6g.152151938C=CA1673186655SYNE1c.777+21G= (n.777+21G=)
c.24312+21G= (n.24312+21G=)
c.24099+21G= (n.24099+21G=)
c.47+21G=
c.226+21G=
c.84+21G= (n.84+21G=)
c.23097+21G= (n.23097+21G=)
n.991+21G=
c.3078+21G= (n.3078+21G=)
n.8004+21G=
c.2250+21G= (n.2250+21G=)
n.7896+21G=
n.857+21G=
n.374+21G=
n.1149+21G=
c.24348+21G= (n.24348+21G=)
c.24336+21G= (n.24336+21G=)
c.24327+21G= (n.24327+21G=)
c.24297+21G= (n.24297+21G=)
c.24333+21G= (n.24333+21G=)
c.24276+21G= (n.24276+21G=)
c.24207+21G= (n.24207+21G=)
c.24195+21G= (n.24195+21G=)
c.24192+21G= (n.24192+21G=)
c.24189+21G= (n.24189+21G=)
c.24345+21G= (n.24345+21G=)
c.24183+21G= (n.24183+21G=)
c.22623+21G= (n.22623+21G=)
c.22116+21G= (n.22116+21G=)
c.17583+21G= (n.17583+21G=)
c.918+21G= (n.918+21G=)
c.24321+21G= (n.24321+21G=)
c.24270+21G= (n.24270+21G=)
6g.152151938C>TCA4053214SYNE1c.777+21G>A (n.777+21G>A)
c.24312+21G>A (n.24312+21G>A)
c.24099+21G>A (n.24099+21G>A)
c.47+21G>A
c.226+21G>A
c.84+21G>A (n.84+21G>A)
c.23097+21G>A (n.23097+21G>A)
n.991+21G>A
c.3078+21G>A (n.3078+21G>A)
n.8004+21G>A
c.2250+21G>A (n.2250+21G>A)
n.7896+21G>A
n.857+21G>A
n.374+21G>A
n.1149+21G>A
c.24348+21G>A (n.24348+21G>A)
c.24336+21G>A (n.24336+21G>A)
c.24327+21G>A (n.24327+21G>A)
c.24297+21G>A (n.24297+21G>A)
c.24333+21G>A (n.24333+21G>A)
c.24276+21G>A (n.24276+21G>A)
c.24207+21G>A (n.24207+21G>A)
c.24195+21G>A (n.24195+21G>A)
c.24192+21G>A (n.24192+21G>A)
c.24189+21G>A (n.24189+21G>A)
c.24345+21G>A (n.24345+21G>A)
c.24183+21G>A (n.24183+21G>A)
c.22623+21G>A (n.22623+21G>A)
c.22116+21G>A (n.22116+21G>A)
c.17583+21G>A (n.17583+21G>A)
c.918+21G>A (n.918+21G>A)
c.24321+21G>A (n.24321+21G>A)
c.24270+21G>A (n.24270+21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152151940G>CCA571437487SYNE1c.777+19C>G (n.777+19C>G)
c.24312+19C>G (n.24312+19C>G)
c.24099+19C>G (n.24099+19C>G)
c.47+19C>G
c.226+19C>G
c.84+19C>G (n.84+19C>G)
c.23097+19C>G (n.23097+19C>G)
n.991+19C>G
c.3078+19C>G (n.3078+19C>G)
n.8004+19C>G
c.2250+19C>G (n.2250+19C>G)
n.7896+19C>G
n.857+19C>G
n.374+19C>G
n.1149+19C>G
c.24348+19C>G (n.24348+19C>G)
c.24336+19C>G (n.24336+19C>G)
c.24327+19C>G (n.24327+19C>G)
c.24297+19C>G (n.24297+19C>G)
c.24333+19C>G (n.24333+19C>G)
c.24276+19C>G (n.24276+19C>G)
c.24207+19C>G (n.24207+19C>G)
c.24195+19C>G (n.24195+19C>G)
c.24192+19C>G (n.24192+19C>G)
c.24189+19C>G (n.24189+19C>G)
c.24345+19C>G (n.24345+19C>G)
c.24183+19C>G (n.24183+19C>G)
c.22623+19C>G (n.22623+19C>G)
c.22116+19C>G (n.22116+19C>G)
c.17583+19C>G (n.17583+19C>G)
c.918+19C>G (n.918+19C>G)
c.24321+19C>G (n.24321+19C>G)
c.24270+19C>G (n.24270+19C>G)
 dbSNP gnomAD v2 gnomAD v4
6g.152151940G=CA1673186659SYNE1c.777+19C= (n.777+19C=)
c.24312+19C= (n.24312+19C=)
c.24099+19C= (n.24099+19C=)
c.47+19C=
c.226+19C=
c.84+19C= (n.84+19C=)
c.23097+19C= (n.23097+19C=)
n.991+19C=
c.3078+19C= (n.3078+19C=)
n.8004+19C=
c.2250+19C= (n.2250+19C=)
n.7896+19C=
n.857+19C=
n.374+19C=
n.1149+19C=
c.24348+19C= (n.24348+19C=)
c.24336+19C= (n.24336+19C=)
c.24327+19C= (n.24327+19C=)
c.24297+19C= (n.24297+19C=)
c.24333+19C= (n.24333+19C=)
c.24276+19C= (n.24276+19C=)
c.24207+19C= (n.24207+19C=)
c.24195+19C= (n.24195+19C=)
c.24192+19C= (n.24192+19C=)
c.24189+19C= (n.24189+19C=)
c.24345+19C= (n.24345+19C=)
c.24183+19C= (n.24183+19C=)
c.22623+19C= (n.22623+19C=)
c.22116+19C= (n.22116+19C=)
c.17583+19C= (n.17583+19C=)
c.918+19C= (n.918+19C=)
c.24321+19C= (n.24321+19C=)
c.24270+19C= (n.24270+19C=)
6g.152151942T>ACA2578773361SYNE1c.777+17A>T (n.777+17A>T)
c.24312+17A>T (n.24312+17A>T)
c.24099+17A>T (n.24099+17A>T)
c.47+17A>T
c.226+17A>T
c.84+17A>T (n.84+17A>T)
c.23097+17A>T (n.23097+17A>T)
n.991+17A>T
c.3078+17A>T (n.3078+17A>T)
n.8004+17A>T
c.2250+17A>T (n.2250+17A>T)
n.7896+17A>T
n.857+17A>T
n.374+17A>T
n.1149+17A>T
c.24348+17A>T (n.24348+17A>T)
c.24336+17A>T (n.24336+17A>T)
c.24327+17A>T (n.24327+17A>T)
c.24297+17A>T (n.24297+17A>T)
c.24333+17A>T (n.24333+17A>T)
c.24276+17A>T (n.24276+17A>T)
c.24207+17A>T (n.24207+17A>T)
c.24195+17A>T (n.24195+17A>T)
c.24192+17A>T (n.24192+17A>T)
c.24189+17A>T (n.24189+17A>T)
c.24345+17A>T (n.24345+17A>T)
c.24183+17A>T (n.24183+17A>T)
c.22623+17A>T (n.22623+17A>T)
c.22116+17A>T (n.22116+17A>T)
c.17583+17A>T (n.17583+17A>T)
c.918+17A>T (n.918+17A>T)
c.24321+17A>T (n.24321+17A>T)
c.24270+17A>T (n.24270+17A>T)
 gnomAD v4
6g.152151942T>CCA2680816871SYNE1c.777+17A>G (n.777+17A>G)
c.24312+17A>G (n.24312+17A>G)
c.24099+17A>G (n.24099+17A>G)
c.47+17A>G
c.226+17A>G
c.84+17A>G (n.84+17A>G)
c.23097+17A>G (n.23097+17A>G)
n.991+17A>G
c.3078+17A>G (n.3078+17A>G)
n.8004+17A>G
c.2250+17A>G (n.2250+17A>G)
n.7896+17A>G
n.857+17A>G
n.374+17A>G
n.1149+17A>G
c.24348+17A>G (n.24348+17A>G)
c.24336+17A>G (n.24336+17A>G)
c.24327+17A>G (n.24327+17A>G)
c.24297+17A>G (n.24297+17A>G)
c.24333+17A>G (n.24333+17A>G)
c.24276+17A>G (n.24276+17A>G)
c.24207+17A>G (n.24207+17A>G)
c.24195+17A>G (n.24195+17A>G)
c.24192+17A>G (n.24192+17A>G)
c.24189+17A>G (n.24189+17A>G)
c.24345+17A>G (n.24345+17A>G)
c.24183+17A>G (n.24183+17A>G)
c.22623+17A>G (n.22623+17A>G)
c.22116+17A>G (n.22116+17A>G)
c.17583+17A>G (n.17583+17A>G)
c.918+17A>G (n.918+17A>G)
c.24321+17A>G (n.24321+17A>G)
c.24270+17A>G (n.24270+17A>G)
 dbSNP gnomAD v4
6g.152151942T>GCA1673186664SYNE1c.777+17A>C (n.777+17A>C)
c.24312+17A>C (n.24312+17A>C)
c.24099+17A>C (n.24099+17A>C)
c.47+17A>C
c.226+17A>C
c.84+17A>C (n.84+17A>C)
c.23097+17A>C (n.23097+17A>C)
n.991+17A>C
c.3078+17A>C (n.3078+17A>C)
n.8004+17A>C
c.2250+17A>C (n.2250+17A>C)
n.7896+17A>C
n.857+17A>C
n.374+17A>C
n.1149+17A>C
c.24348+17A>C (n.24348+17A>C)
c.24336+17A>C (n.24336+17A>C)
c.24327+17A>C (n.24327+17A>C)
c.24297+17A>C (n.24297+17A>C)
c.24333+17A>C (n.24333+17A>C)
c.24276+17A>C (n.24276+17A>C)
c.24207+17A>C (n.24207+17A>C)
c.24195+17A>C (n.24195+17A>C)
c.24192+17A>C (n.24192+17A>C)
c.24189+17A>C (n.24189+17A>C)
c.24345+17A>C (n.24345+17A>C)
c.24183+17A>C (n.24183+17A>C)
c.22623+17A>C (n.22623+17A>C)
c.22116+17A>C (n.22116+17A>C)
c.17583+17A>C (n.17583+17A>C)
c.918+17A>C (n.918+17A>C)
c.24321+17A>C (n.24321+17A>C)
c.24270+17A>C (n.24270+17A>C)
 dbSNP gnomAD v4
6g.152151942T=CA1673186663SYNE1c.777+17A= (n.777+17A=)
c.24312+17A= (n.24312+17A=)
c.24099+17A= (n.24099+17A=)
c.47+17A=
c.226+17A=
c.84+17A= (n.84+17A=)
c.23097+17A= (n.23097+17A=)
n.991+17A=
c.3078+17A= (n.3078+17A=)
n.8004+17A=
c.2250+17A= (n.2250+17A=)
n.7896+17A=
n.857+17A=
n.374+17A=
n.1149+17A=
c.24348+17A= (n.24348+17A=)
c.24336+17A= (n.24336+17A=)
c.24327+17A= (n.24327+17A=)
c.24297+17A= (n.24297+17A=)
c.24333+17A= (n.24333+17A=)
c.24276+17A= (n.24276+17A=)
c.24207+17A= (n.24207+17A=)
c.24195+17A= (n.24195+17A=)
c.24192+17A= (n.24192+17A=)
c.24189+17A= (n.24189+17A=)
c.24345+17A= (n.24345+17A=)
c.24183+17A= (n.24183+17A=)
c.22623+17A= (n.22623+17A=)
c.22116+17A= (n.22116+17A=)
c.17583+17A= (n.17583+17A=)
c.918+17A= (n.918+17A=)
c.24321+17A= (n.24321+17A=)
c.24270+17A= (n.24270+17A=)
6g.152151942_152151945delinsTGAGCA1673186662SYNE1c.777+14_777+17delinsCTCA (n.777+14_777+17delinsCTCA)
c.24312+14_24312+17delinsCTCA (n.24312+14_24312+17delinsCTCA)
c.24099+14_24099+17delinsCTCA (n.24099+14_24099+17delinsCTCA)
c.47+14_47+17delinsCTCA
c.226+14_226+17delinsCTCA
c.84+14_84+17delinsCTCA (n.84+14_84+17delinsCTCA)
c.23097+14_23097+17delinsCTCA (n.23097+14_23097+17delinsCTCA)
n.991+14_991+17delinsCTCA
c.3078+14_3078+17delinsCTCA (n.3078+14_3078+17delinsCTCA)
n.8004+14_8004+17delinsCTCA
c.2250+14_2250+17delinsCTCA (n.2250+14_2250+17delinsCTCA)
n.7896+14_7896+17delinsCTCA
n.857+14_857+17delinsCTCA
n.374+14_374+17delinsCTCA
n.1149+14_1149+17delinsCTCA
c.24348+14_24348+17delinsCTCA (n.24348+14_24348+17delinsCTCA)
c.24336+14_24336+17delinsCTCA (n.24336+14_24336+17delinsCTCA)
c.24327+14_24327+17delinsCTCA (n.24327+14_24327+17delinsCTCA)
c.24297+14_24297+17delinsCTCA (n.24297+14_24297+17delinsCTCA)
c.24333+14_24333+17delinsCTCA (n.24333+14_24333+17delinsCTCA)
c.24276+14_24276+17delinsCTCA (n.24276+14_24276+17delinsCTCA)
c.24207+14_24207+17delinsCTCA (n.24207+14_24207+17delinsCTCA)
c.24195+14_24195+17delinsCTCA (n.24195+14_24195+17delinsCTCA)
c.24192+14_24192+17delinsCTCA (n.24192+14_24192+17delinsCTCA)
c.24189+14_24189+17delinsCTCA (n.24189+14_24189+17delinsCTCA)
c.24345+14_24345+17delinsCTCA (n.24345+14_24345+17delinsCTCA)
c.24183+14_24183+17delinsCTCA (n.24183+14_24183+17delinsCTCA)
c.22623+14_22623+17delinsCTCA (n.22623+14_22623+17delinsCTCA)
c.22116+14_22116+17delinsCTCA (n.22116+14_22116+17delinsCTCA)
c.17583+14_17583+17delinsCTCA (n.17583+14_17583+17delinsCTCA)
c.918+14_918+17delinsCTCA (n.918+14_918+17delinsCTCA)
c.24321+14_24321+17delinsCTCA (n.24321+14_24321+17delinsCTCA)
c.24270+14_24270+17delinsCTCA (n.24270+14_24270+17delinsCTCA)
6g.152151943G>ACA1095929583SYNE1c.777+16C>T (n.777+16C>T)
c.24312+16C>T (n.24312+16C>T)
c.24099+16C>T (n.24099+16C>T)
c.47+16C>T
c.226+16C>T
c.84+16C>T (n.84+16C>T)
c.23097+16C>T (n.23097+16C>T)
n.991+16C>T
c.3078+16C>T (n.3078+16C>T)
n.8004+16C>T
c.2250+16C>T (n.2250+16C>T)
n.7896+16C>T
n.857+16C>T
n.374+16C>T
n.1149+16C>T
c.24348+16C>T (n.24348+16C>T)
c.24336+16C>T (n.24336+16C>T)
c.24327+16C>T (n.24327+16C>T)
c.24297+16C>T (n.24297+16C>T)
c.24333+16C>T (n.24333+16C>T)
c.24276+16C>T (n.24276+16C>T)
c.24207+16C>T (n.24207+16C>T)
c.24195+16C>T (n.24195+16C>T)
c.24192+16C>T (n.24192+16C>T)
c.24189+16C>T (n.24189+16C>T)
c.24345+16C>T (n.24345+16C>T)
c.24183+16C>T (n.24183+16C>T)
c.22623+16C>T (n.22623+16C>T)
c.22116+16C>T (n.22116+16C>T)
c.17583+16C>T (n.17583+16C>T)
c.918+16C>T (n.918+16C>T)
c.24321+16C>T (n.24321+16C>T)
c.24270+16C>T (n.24270+16C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.152151943G=CA1673186667SYNE1c.777+16C= (n.777+16C=)
c.24312+16C= (n.24312+16C=)
c.24099+16C= (n.24099+16C=)
c.47+16C=
c.226+16C=
c.84+16C= (n.84+16C=)
c.23097+16C= (n.23097+16C=)
n.991+16C=
c.3078+16C= (n.3078+16C=)
n.8004+16C=
c.2250+16C= (n.2250+16C=)
n.7896+16C=
n.857+16C=
n.374+16C=
n.1149+16C=
c.24348+16C= (n.24348+16C=)
c.24336+16C= (n.24336+16C=)
c.24327+16C= (n.24327+16C=)
c.24297+16C= (n.24297+16C=)
c.24333+16C= (n.24333+16C=)
c.24276+16C= (n.24276+16C=)
c.24207+16C= (n.24207+16C=)
c.24195+16C= (n.24195+16C=)
c.24192+16C= (n.24192+16C=)
c.24189+16C= (n.24189+16C=)
c.24345+16C= (n.24345+16C=)
c.24183+16C= (n.24183+16C=)
c.22623+16C= (n.22623+16C=)
c.22116+16C= (n.22116+16C=)
c.17583+16C= (n.17583+16C=)
c.918+16C= (n.918+16C=)
c.24321+16C= (n.24321+16C=)
c.24270+16C= (n.24270+16C=)
6g.152151944_152151946delCA4053215SYNE1c.777+14_777+16del (n.777+14_777+16del)
c.24312+14_24312+16del (n.24312+14_24312+16del)
c.24099+14_24099+16del (n.24099+14_24099+16del)
c.47+14_47+16del
c.226+14_226+16del
c.84+14_84+16del (n.84+14_84+16del)
c.23097+14_23097+16del (n.23097+14_23097+16del)
n.991+14_991+16del
c.3078+14_3078+16del (n.3078+14_3078+16del)
n.8004+14_8004+16del
c.2250+14_2250+16del (n.2250+14_2250+16del)
n.7896+14_7896+16del
n.857+14_857+16del
n.374+14_374+16del
n.1149+14_1149+16del
c.24348+14_24348+16del (n.24348+14_24348+16del)
c.24336+14_24336+16del (n.24336+14_24336+16del)
c.24327+14_24327+16del (n.24327+14_24327+16del)
c.24297+14_24297+16del (n.24297+14_24297+16del)
c.24333+14_24333+16del (n.24333+14_24333+16del)
c.24276+14_24276+16del (n.24276+14_24276+16del)
c.24207+14_24207+16del (n.24207+14_24207+16del)
c.24195+14_24195+16del (n.24195+14_24195+16del)
c.24192+14_24192+16del (n.24192+14_24192+16del)
c.24189+14_24189+16del (n.24189+14_24189+16del)
c.24345+14_24345+16del (n.24345+14_24345+16del)
c.24183+14_24183+16del (n.24183+14_24183+16del)
c.22623+14_22623+16del (n.22623+14_22623+16del)
c.22116+14_22116+16del (n.22116+14_22116+16del)
c.17583+14_17583+16del (n.17583+14_17583+16del)
c.918+14_918+16del (n.918+14_918+16del)
c.24321+14_24321+16del (n.24321+14_24321+16del)
c.24270+14_24270+16del (n.24270+14_24270+16del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151945G>ACA4053216SYNE1c.777+14C>T (n.777+14C>T)
c.24312+14C>T (n.24312+14C>T)
c.24099+14C>T (n.24099+14C>T)
c.47+14C>T
c.226+14C>T
c.84+14C>T (n.84+14C>T)
c.23097+14C>T (n.23097+14C>T)
n.991+14C>T
c.3078+14C>T (n.3078+14C>T)
n.8004+14C>T
c.2250+14C>T (n.2250+14C>T)
n.7896+14C>T
n.857+14C>T
n.374+14C>T
n.1149+14C>T
c.24348+14C>T (n.24348+14C>T)
c.24336+14C>T (n.24336+14C>T)
c.24327+14C>T (n.24327+14C>T)
c.24297+14C>T (n.24297+14C>T)
c.24333+14C>T (n.24333+14C>T)
c.24276+14C>T (n.24276+14C>T)
c.24207+14C>T (n.24207+14C>T)
c.24195+14C>T (n.24195+14C>T)
c.24192+14C>T (n.24192+14C>T)
c.24189+14C>T (n.24189+14C>T)
c.24345+14C>T (n.24345+14C>T)
c.24183+14C>T (n.24183+14C>T)
c.22623+14C>T (n.22623+14C>T)
c.22116+14C>T (n.22116+14C>T)
c.17583+14C>T (n.17583+14C>T)
c.918+14C>T (n.918+14C>T)
c.24321+14C>T (n.24321+14C>T)
c.24270+14C>T (n.24270+14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152151945G>CCA1673186671SYNE1c.777+14C>G (n.777+14C>G)
c.24312+14C>G (n.24312+14C>G)
c.24099+14C>G (n.24099+14C>G)
c.47+14C>G
c.226+14C>G
c.84+14C>G (n.84+14C>G)
c.23097+14C>G (n.23097+14C>G)
n.991+14C>G
c.3078+14C>G (n.3078+14C>G)
n.8004+14C>G
c.2250+14C>G (n.2250+14C>G)
n.7896+14C>G
n.857+14C>G
n.374+14C>G
n.1149+14C>G
c.24348+14C>G (n.24348+14C>G)
c.24336+14C>G (n.24336+14C>G)
c.24327+14C>G (n.24327+14C>G)
c.24297+14C>G (n.24297+14C>G)
c.24333+14C>G (n.24333+14C>G)
c.24276+14C>G (n.24276+14C>G)
c.24207+14C>G (n.24207+14C>G)
c.24195+14C>G (n.24195+14C>G)
c.24192+14C>G (n.24192+14C>G)
c.24189+14C>G (n.24189+14C>G)
c.24345+14C>G (n.24345+14C>G)
c.24183+14C>G (n.24183+14C>G)
c.22623+14C>G (n.22623+14C>G)
c.22116+14C>G (n.22116+14C>G)
c.17583+14C>G (n.17583+14C>G)
c.918+14C>G (n.918+14C>G)
c.24321+14C>G (n.24321+14C>G)
c.24270+14C>G (n.24270+14C>G)
 dbSNP
6g.152151945G=CA1673186675SYNE1c.777+14C= (n.777+14C=)
c.24312+14C= (n.24312+14C=)
c.24099+14C= (n.24099+14C=)
c.47+14C=
c.226+14C=
c.84+14C= (n.84+14C=)
c.23097+14C= (n.23097+14C=)
n.991+14C=
c.3078+14C= (n.3078+14C=)
n.8004+14C=
c.2250+14C= (n.2250+14C=)
n.7896+14C=
n.857+14C=
n.374+14C=
n.1149+14C=
c.24348+14C= (n.24348+14C=)
c.24336+14C= (n.24336+14C=)
c.24327+14C= (n.24327+14C=)
c.24297+14C= (n.24297+14C=)
c.24333+14C= (n.24333+14C=)
c.24276+14C= (n.24276+14C=)
c.24207+14C= (n.24207+14C=)
c.24195+14C= (n.24195+14C=)
c.24192+14C= (n.24192+14C=)
c.24189+14C= (n.24189+14C=)
c.24345+14C= (n.24345+14C=)
c.24183+14C= (n.24183+14C=)
c.22623+14C= (n.22623+14C=)
c.22116+14C= (n.22116+14C=)
c.17583+14C= (n.17583+14C=)
c.918+14C= (n.918+14C=)
c.24321+14C= (n.24321+14C=)
c.24270+14C= (n.24270+14C=)
6g.152151946G=CA1673186676SYNE1c.777+13C= (n.777+13C=)
c.24312+13C= (n.24312+13C=)
c.24099+13C= (n.24099+13C=)
c.47+13C=
c.226+13C=
c.84+13C= (n.84+13C=)
c.23097+13C= (n.23097+13C=)
n.991+13C=
c.3078+13C= (n.3078+13C=)
n.8004+13C=
c.2250+13C= (n.2250+13C=)
n.7896+13C=
n.857+13C=
n.374+13C=
n.1149+13C=
c.24348+13C= (n.24348+13C=)
c.24336+13C= (n.24336+13C=)
c.24327+13C= (n.24327+13C=)
c.24297+13C= (n.24297+13C=)
c.24333+13C= (n.24333+13C=)
c.24276+13C= (n.24276+13C=)
c.24207+13C= (n.24207+13C=)
c.24195+13C= (n.24195+13C=)
c.24192+13C= (n.24192+13C=)
c.24189+13C= (n.24189+13C=)
c.24345+13C= (n.24345+13C=)
c.24183+13C= (n.24183+13C=)
c.22623+13C= (n.22623+13C=)
c.22116+13C= (n.22116+13C=)
c.17583+13C= (n.17583+13C=)
c.918+13C= (n.918+13C=)
c.24321+13C= (n.24321+13C=)
c.24270+13C= (n.24270+13C=)
6g.152151946G>TCA1673186678SYNE1c.777+13C>A (n.777+13C>A)
c.24312+13C>A (n.24312+13C>A)
c.24099+13C>A (n.24099+13C>A)
c.47+13C>A
c.226+13C>A
c.84+13C>A (n.84+13C>A)
c.23097+13C>A (n.23097+13C>A)
n.991+13C>A
c.3078+13C>A (n.3078+13C>A)
n.8004+13C>A
c.2250+13C>A (n.2250+13C>A)
n.7896+13C>A
n.857+13C>A
n.374+13C>A
n.1149+13C>A
c.24348+13C>A (n.24348+13C>A)
c.24336+13C>A (n.24336+13C>A)
c.24327+13C>A (n.24327+13C>A)
c.24297+13C>A (n.24297+13C>A)
c.24333+13C>A (n.24333+13C>A)
c.24276+13C>A (n.24276+13C>A)
c.24207+13C>A (n.24207+13C>A)
c.24195+13C>A (n.24195+13C>A)
c.24192+13C>A (n.24192+13C>A)
c.24189+13C>A (n.24189+13C>A)
c.24345+13C>A (n.24345+13C>A)
c.24183+13C>A (n.24183+13C>A)
c.22623+13C>A (n.22623+13C>A)
c.22116+13C>A (n.22116+13C>A)
c.17583+13C>A (n.17583+13C>A)
c.918+13C>A (n.918+13C>A)
c.24321+13C>A (n.24321+13C>A)
c.24270+13C>A (n.24270+13C>A)
 dbSNP gnomAD v4
6g.152151947C=CA1673186682SYNE1c.777+12G= (n.777+12G=)
c.24312+12G= (n.24312+12G=)
c.24099+12G= (n.24099+12G=)
c.47+12G=
c.226+12G=
c.84+12G= (n.84+12G=)
c.23097+12G= (n.23097+12G=)
n.991+12G=
c.3078+12G= (n.3078+12G=)
n.8004+12G=
c.2250+12G= (n.2250+12G=)
n.7896+12G=
n.857+12G=
n.374+12G=
n.1149+12G=
c.24348+12G= (n.24348+12G=)
c.24336+12G= (n.24336+12G=)
c.24327+12G= (n.24327+12G=)
c.24297+12G= (n.24297+12G=)
c.24333+12G= (n.24333+12G=)
c.24276+12G= (n.24276+12G=)
c.24207+12G= (n.24207+12G=)
c.24195+12G= (n.24195+12G=)
c.24192+12G= (n.24192+12G=)
c.24189+12G= (n.24189+12G=)
c.24345+12G= (n.24345+12G=)
c.24183+12G= (n.24183+12G=)
c.22623+12G= (n.22623+12G=)
c.22116+12G= (n.22116+12G=)
c.17583+12G= (n.17583+12G=)
c.918+12G= (n.918+12G=)
c.24321+12G= (n.24321+12G=)
c.24270+12G= (n.24270+12G=)
6g.152151947C>TCA4053217SYNE1c.777+12G>A (n.777+12G>A)
c.24312+12G>A (n.24312+12G>A)
c.24099+12G>A (n.24099+12G>A)
c.47+12G>A
c.226+12G>A
c.84+12G>A (n.84+12G>A)
c.23097+12G>A (n.23097+12G>A)
n.991+12G>A
c.3078+12G>A (n.3078+12G>A)
n.8004+12G>A
c.2250+12G>A (n.2250+12G>A)
n.7896+12G>A
n.857+12G>A
n.374+12G>A
n.1149+12G>A
c.24348+12G>A (n.24348+12G>A)
c.24336+12G>A (n.24336+12G>A)
c.24327+12G>A (n.24327+12G>A)
c.24297+12G>A (n.24297+12G>A)
c.24333+12G>A (n.24333+12G>A)
c.24276+12G>A (n.24276+12G>A)
c.24207+12G>A (n.24207+12G>A)
c.24195+12G>A (n.24195+12G>A)
c.24192+12G>A (n.24192+12G>A)
c.24189+12G>A (n.24189+12G>A)
c.24345+12G>A (n.24345+12G>A)
c.24183+12G>A (n.24183+12G>A)
c.22623+12G>A (n.22623+12G>A)
c.22116+12G>A (n.22116+12G>A)
c.17583+12G>A (n.17583+12G>A)
c.918+12G>A (n.918+12G>A)
c.24321+12G>A (n.24321+12G>A)
c.24270+12G>A (n.24270+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152151949T>CCA4053218SYNE1c.777+10A>G (n.777+10A>G)
c.24312+10A>G (n.24312+10A>G)
c.24099+10A>G (n.24099+10A>G)
c.47+10A>G
c.226+10A>G
c.84+10A>G (n.84+10A>G)
c.23097+10A>G (n.23097+10A>G)
n.991+10A>G
c.3078+10A>G (n.3078+10A>G)
n.8004+10A>G
c.2250+10A>G (n.2250+10A>G)
n.7896+10A>G
n.857+10A>G
n.374+10A>G
n.1149+10A>G
c.24348+10A>G (n.24348+10A>G)
c.24336+10A>G (n.24336+10A>G)
c.24327+10A>G (n.24327+10A>G)
c.24297+10A>G (n.24297+10A>G)
c.24333+10A>G (n.24333+10A>G)
c.24276+10A>G (n.24276+10A>G)
c.24207+10A>G (n.24207+10A>G)
c.24195+10A>G (n.24195+10A>G)
c.24192+10A>G (n.24192+10A>G)
c.24189+10A>G (n.24189+10A>G)
c.24345+10A>G (n.24345+10A>G)
c.24183+10A>G (n.24183+10A>G)
c.22623+10A>G (n.22623+10A>G)
c.22116+10A>G (n.22116+10A>G)
c.17583+10A>G (n.17583+10A>G)
c.918+10A>G (n.918+10A>G)
c.24321+10A>G (n.24321+10A>G)
c.24270+10A>G (n.24270+10A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151949T>GCA2680816872SYNE1c.777+10A>C (n.777+10A>C)
c.24312+10A>C (n.24312+10A>C)
c.24099+10A>C (n.24099+10A>C)
c.47+10A>C
c.226+10A>C
c.84+10A>C (n.84+10A>C)
c.23097+10A>C (n.23097+10A>C)
n.991+10A>C
c.3078+10A>C (n.3078+10A>C)
n.8004+10A>C
c.2250+10A>C (n.2250+10A>C)
n.7896+10A>C
n.857+10A>C
n.374+10A>C
n.1149+10A>C
c.24348+10A>C (n.24348+10A>C)
c.24336+10A>C (n.24336+10A>C)
c.24327+10A>C (n.24327+10A>C)
c.24297+10A>C (n.24297+10A>C)
c.24333+10A>C (n.24333+10A>C)
c.24276+10A>C (n.24276+10A>C)
c.24207+10A>C (n.24207+10A>C)
c.24195+10A>C (n.24195+10A>C)
c.24192+10A>C (n.24192+10A>C)
c.24189+10A>C (n.24189+10A>C)
c.24345+10A>C (n.24345+10A>C)
c.24183+10A>C (n.24183+10A>C)
c.22623+10A>C (n.22623+10A>C)
c.22116+10A>C (n.22116+10A>C)
c.17583+10A>C (n.17583+10A>C)
c.918+10A>C (n.918+10A>C)
c.24321+10A>C (n.24321+10A>C)
c.24270+10A>C (n.24270+10A>C)
 gnomAD v4
6g.152151949T=CA1673186687SYNE1c.777+10A= (n.777+10A=)
c.24312+10A= (n.24312+10A=)
c.24099+10A= (n.24099+10A=)
c.47+10A=
c.226+10A=
c.84+10A= (n.84+10A=)
c.23097+10A= (n.23097+10A=)
n.991+10A=
c.3078+10A= (n.3078+10A=)
n.8004+10A=
c.2250+10A= (n.2250+10A=)
n.7896+10A=
n.857+10A=
n.374+10A=
n.1149+10A=
c.24348+10A= (n.24348+10A=)
c.24336+10A= (n.24336+10A=)
c.24327+10A= (n.24327+10A=)
c.24297+10A= (n.24297+10A=)
c.24333+10A= (n.24333+10A=)
c.24276+10A= (n.24276+10A=)
c.24207+10A= (n.24207+10A=)
c.24195+10A= (n.24195+10A=)
c.24192+10A= (n.24192+10A=)
c.24189+10A= (n.24189+10A=)
c.24345+10A= (n.24345+10A=)
c.24183+10A= (n.24183+10A=)
c.22623+10A= (n.22623+10A=)
c.22116+10A= (n.22116+10A=)
c.17583+10A= (n.17583+10A=)
c.918+10A= (n.918+10A=)
c.24321+10A= (n.24321+10A=)
c.24270+10A= (n.24270+10A=)
6g.152151950A=CA1673186694SYNE1c.777+9T= (n.777+9T=)
c.24312+9T= (n.24312+9T=)
c.24099+9T= (n.24099+9T=)
c.47+9T=
c.226+9T=
c.84+9T= (n.84+9T=)
c.23097+9T= (n.23097+9T=)
n.991+9T=
c.3078+9T= (n.3078+9T=)
n.8004+9T=
c.2250+9T= (n.2250+9T=)
n.7896+9T=
n.857+9T=
n.374+9T=
n.1149+9T=
c.24348+9T= (n.24348+9T=)
c.24336+9T= (n.24336+9T=)
c.24327+9T= (n.24327+9T=)
c.24297+9T= (n.24297+9T=)
c.24333+9T= (n.24333+9T=)
c.24276+9T= (n.24276+9T=)
c.24207+9T= (n.24207+9T=)
c.24195+9T= (n.24195+9T=)
c.24192+9T= (n.24192+9T=)
c.24189+9T= (n.24189+9T=)
c.24345+9T= (n.24345+9T=)
c.24183+9T= (n.24183+9T=)
c.22623+9T= (n.22623+9T=)
c.22116+9T= (n.22116+9T=)
c.17583+9T= (n.17583+9T=)
c.918+9T= (n.918+9T=)
c.24321+9T= (n.24321+9T=)
c.24270+9T= (n.24270+9T=)
6g.152151950A>GCA571437488SYNE1c.777+9T>C (n.777+9T>C)
c.24312+9T>C (n.24312+9T>C)
c.24099+9T>C (n.24099+9T>C)
c.47+9T>C
c.226+9T>C
c.84+9T>C (n.84+9T>C)
c.23097+9T>C (n.23097+9T>C)
n.991+9T>C
c.3078+9T>C (n.3078+9T>C)
n.8004+9T>C
c.2250+9T>C (n.2250+9T>C)
n.7896+9T>C
n.857+9T>C
n.374+9T>C
n.1149+9T>C
c.24348+9T>C (n.24348+9T>C)
c.24336+9T>C (n.24336+9T>C)
c.24327+9T>C (n.24327+9T>C)
c.24297+9T>C (n.24297+9T>C)
c.24333+9T>C (n.24333+9T>C)
c.24276+9T>C (n.24276+9T>C)
c.24207+9T>C (n.24207+9T>C)
c.24195+9T>C (n.24195+9T>C)
c.24192+9T>C (n.24192+9T>C)
c.24189+9T>C (n.24189+9T>C)
c.24345+9T>C (n.24345+9T>C)
c.24183+9T>C (n.24183+9T>C)
c.22623+9T>C (n.22623+9T>C)
c.22116+9T>C (n.22116+9T>C)
c.17583+9T>C (n.17583+9T>C)
c.918+9T>C (n.918+9T>C)
c.24321+9T>C (n.24321+9T>C)
c.24270+9T>C (n.24270+9T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.152151951G>CCA4053219SYNE1c.777+8C>G (n.777+8C>G)
c.24312+8C>G (n.24312+8C>G)
c.24099+8C>G (n.24099+8C>G)
c.47+8C>G
c.226+8C>G
c.84+8C>G (n.84+8C>G)
c.23097+8C>G (n.23097+8C>G)
n.991+8C>G
c.3078+8C>G (n.3078+8C>G)
n.8004+8C>G
c.2250+8C>G (n.2250+8C>G)
n.7896+8C>G
n.857+8C>G
n.374+8C>G
n.1149+8C>G
c.24348+8C>G (n.24348+8C>G)
c.24336+8C>G (n.24336+8C>G)
c.24327+8C>G (n.24327+8C>G)
c.24297+8C>G (n.24297+8C>G)
c.24333+8C>G (n.24333+8C>G)
c.24276+8C>G (n.24276+8C>G)
c.24207+8C>G (n.24207+8C>G)
c.24195+8C>G (n.24195+8C>G)
c.24192+8C>G (n.24192+8C>G)
c.24189+8C>G (n.24189+8C>G)
c.24345+8C>G (n.24345+8C>G)
c.24183+8C>G (n.24183+8C>G)
c.22623+8C>G (n.22623+8C>G)
c.22116+8C>G (n.22116+8C>G)
c.17583+8C>G (n.17583+8C>G)
c.918+8C>G (n.918+8C>G)
c.24321+8C>G (n.24321+8C>G)
c.24270+8C>G (n.24270+8C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151951G=CA1673186695SYNE1c.777+8C= (n.777+8C=)
c.24312+8C= (n.24312+8C=)
c.24099+8C= (n.24099+8C=)
c.47+8C=
c.226+8C=
c.84+8C= (n.84+8C=)
c.23097+8C= (n.23097+8C=)
n.991+8C=
c.3078+8C= (n.3078+8C=)
n.8004+8C=
c.2250+8C= (n.2250+8C=)
n.7896+8C=
n.857+8C=
n.374+8C=
n.1149+8C=
c.24348+8C= (n.24348+8C=)
c.24336+8C= (n.24336+8C=)
c.24327+8C= (n.24327+8C=)
c.24297+8C= (n.24297+8C=)
c.24333+8C= (n.24333+8C=)
c.24276+8C= (n.24276+8C=)
c.24207+8C= (n.24207+8C=)
c.24195+8C= (n.24195+8C=)
c.24192+8C= (n.24192+8C=)
c.24189+8C= (n.24189+8C=)
c.24345+8C= (n.24345+8C=)
c.24183+8C= (n.24183+8C=)
c.22623+8C= (n.22623+8C=)
c.22116+8C= (n.22116+8C=)
c.17583+8C= (n.17583+8C=)
c.918+8C= (n.918+8C=)
c.24321+8C= (n.24321+8C=)
c.24270+8C= (n.24270+8C=)
6g.152151952C>GCA2578773362SYNE1c.777+7G>C (n.777+7G>C)
c.24312+7G>C (n.24312+7G>C)
c.24099+7G>C (n.24099+7G>C)
c.47+7G>C
c.226+7G>C
c.84+7G>C (n.84+7G>C)
c.23097+7G>C (n.23097+7G>C)
n.991+7G>C
c.3078+7G>C (n.3078+7G>C)
n.8004+7G>C
c.2250+7G>C (n.2250+7G>C)
n.7896+7G>C
n.857+7G>C
n.374+7G>C
n.1149+7G>C
c.24348+7G>C (n.24348+7G>C)
c.24336+7G>C (n.24336+7G>C)
c.24327+7G>C (n.24327+7G>C)
c.24297+7G>C (n.24297+7G>C)
c.24333+7G>C (n.24333+7G>C)
c.24276+7G>C (n.24276+7G>C)
c.24207+7G>C (n.24207+7G>C)
c.24195+7G>C (n.24195+7G>C)
c.24192+7G>C (n.24192+7G>C)
c.24189+7G>C (n.24189+7G>C)
c.24345+7G>C (n.24345+7G>C)
c.24183+7G>C (n.24183+7G>C)
c.22623+7G>C (n.22623+7G>C)
c.22116+7G>C (n.22116+7G>C)
c.17583+7G>C (n.17583+7G>C)
c.918+7G>C (n.918+7G>C)
c.24321+7G>C (n.24321+7G>C)
c.24270+7G>C (n.24270+7G>C)
6g.152151957delCA2680816873SYNE1c.777+6del (n.777+6del)
c.24312+6del (n.24312+6del)
c.24099+6del (n.24099+6del)
c.47+6del
c.226+6del
c.84+6del (n.84+6del)
c.23097+6del (n.23097+6del)
n.991+6del
c.3078+6del (n.3078+6del)
n.8004+6del
c.2250+6del (n.2250+6del)
n.7896+6del
n.857+6del
n.374+6del
n.1149+6del
c.24348+6del (n.24348+6del)
c.24336+6del (n.24336+6del)
c.24327+6del (n.24327+6del)
c.24297+6del (n.24297+6del)
c.24333+6del (n.24333+6del)
c.24276+6del (n.24276+6del)
c.24207+6del (n.24207+6del)
c.24195+6del (n.24195+6del)
c.24192+6del (n.24192+6del)
c.24189+6del (n.24189+6del)
c.24345+6del (n.24345+6del)
c.24183+6del (n.24183+6del)
c.22623+6del (n.22623+6del)
c.22116+6del (n.22116+6del)
c.17583+6del (n.17583+6del)
c.918+6del (n.918+6del)
c.24321+6del (n.24321+6del)
c.24270+6del (n.24270+6del)
 gnomAD v4
6g.152151957A=CA1673186700SYNE1c.777+2T= (n.777+2T=)
c.24312+2T= (n.24312+2T=)
c.24099+2T= (n.24099+2T=)
c.47+2T=
c.226+2T=
c.84+2T= (n.84+2T=)
c.23097+2T= (n.23097+2T=)
n.991+2T=
c.3078+2T= (n.3078+2T=)
n.8004+2T=
c.2250+2T= (n.2250+2T=)
n.7896+2T=
n.857+2T=
n.374+2T=
n.1149+2T=
c.24348+2T= (n.24348+2T=)
c.24336+2T= (n.24336+2T=)
c.24327+2T= (n.24327+2T=)
c.24297+2T= (n.24297+2T=)
c.24333+2T= (n.24333+2T=)
c.24276+2T= (n.24276+2T=)
c.24207+2T= (n.24207+2T=)
c.24195+2T= (n.24195+2T=)
c.24192+2T= (n.24192+2T=)
c.24189+2T= (n.24189+2T=)
c.24345+2T= (n.24345+2T=)
c.24183+2T= (n.24183+2T=)
c.22623+2T= (n.22623+2T=)
c.22116+2T= (n.22116+2T=)
c.17583+2T= (n.17583+2T=)
c.918+2T= (n.918+2T=)
c.24321+2T= (n.24321+2T=)
c.24270+2T= (n.24270+2T=)
6g.152151957A>CCA366086816SYNE1c.777+2T>G (n.777+2T>G)
c.24312+2T>G (n.24312+2T>G)
c.24099+2T>G (n.24099+2T>G)
c.47+2T>G
c.226+2T>G
c.84+2T>G (n.84+2T>G)
c.23097+2T>G (n.23097+2T>G)
n.991+2T>G
c.3078+2T>G (n.3078+2T>G)
n.8004+2T>G
c.2250+2T>G (n.2250+2T>G)
n.7896+2T>G
n.857+2T>G
n.374+2T>G
n.1149+2T>G
c.24348+2T>G (n.24348+2T>G)
c.24336+2T>G (n.24336+2T>G)
c.24327+2T>G (n.24327+2T>G)
c.24297+2T>G (n.24297+2T>G)
c.24333+2T>G (n.24333+2T>G)
c.24276+2T>G (n.24276+2T>G)
c.24207+2T>G (n.24207+2T>G)
c.24195+2T>G (n.24195+2T>G)
c.24192+2T>G (n.24192+2T>G)
c.24189+2T>G (n.24189+2T>G)
c.24345+2T>G (n.24345+2T>G)
c.24183+2T>G (n.24183+2T>G)
c.22623+2T>G (n.22623+2T>G)
c.22116+2T>G (n.22116+2T>G)
c.17583+2T>G (n.17583+2T>G)
c.918+2T>G (n.918+2T>G)
c.24321+2T>G (n.24321+2T>G)
c.24270+2T>G (n.24270+2T>G)
6g.152151957A>GCA366086817SYNE1c.777+2T>C (n.777+2T>C)
c.24312+2T>C (n.24312+2T>C)
c.24099+2T>C (n.24099+2T>C)
c.47+2T>C
c.226+2T>C
c.84+2T>C (n.84+2T>C)
c.23097+2T>C (n.23097+2T>C)
n.991+2T>C
c.3078+2T>C (n.3078+2T>C)
n.8004+2T>C
c.2250+2T>C (n.2250+2T>C)
n.7896+2T>C
n.857+2T>C
n.374+2T>C
n.1149+2T>C
c.24348+2T>C (n.24348+2T>C)
c.24336+2T>C (n.24336+2T>C)
c.24327+2T>C (n.24327+2T>C)
c.24297+2T>C (n.24297+2T>C)
c.24333+2T>C (n.24333+2T>C)
c.24276+2T>C (n.24276+2T>C)
c.24207+2T>C (n.24207+2T>C)
c.24195+2T>C (n.24195+2T>C)
c.24192+2T>C (n.24192+2T>C)
c.24189+2T>C (n.24189+2T>C)
c.24345+2T>C (n.24345+2T>C)
c.24183+2T>C (n.24183+2T>C)
c.22623+2T>C (n.22623+2T>C)
c.22116+2T>C (n.22116+2T>C)
c.17583+2T>C (n.17583+2T>C)
c.918+2T>C (n.918+2T>C)
c.24321+2T>C (n.24321+2T>C)
c.24270+2T>C (n.24270+2T>C)
 dbSNP
6g.152151957A>TCA366086818SYNE1c.777+2T>A (n.777+2T>A)
c.24312+2T>A (n.24312+2T>A)
c.24099+2T>A (n.24099+2T>A)
c.47+2T>A
c.226+2T>A
c.84+2T>A (n.84+2T>A)
c.23097+2T>A (n.23097+2T>A)
n.991+2T>A
c.3078+2T>A (n.3078+2T>A)
n.8004+2T>A
c.2250+2T>A (n.2250+2T>A)
n.7896+2T>A
n.857+2T>A
n.374+2T>A
n.1149+2T>A
c.24348+2T>A (n.24348+2T>A)
c.24336+2T>A (n.24336+2T>A)
c.24327+2T>A (n.24327+2T>A)
c.24297+2T>A (n.24297+2T>A)
c.24333+2T>A (n.24333+2T>A)
c.24276+2T>A (n.24276+2T>A)
c.24207+2T>A (n.24207+2T>A)
c.24195+2T>A (n.24195+2T>A)
c.24192+2T>A (n.24192+2T>A)
c.24189+2T>A (n.24189+2T>A)
c.24345+2T>A (n.24345+2T>A)
c.24183+2T>A (n.24183+2T>A)
c.22623+2T>A (n.22623+2T>A)
c.22116+2T>A (n.22116+2T>A)
c.17583+2T>A (n.17583+2T>A)
c.918+2T>A (n.918+2T>A)
c.24321+2T>A (n.24321+2T>A)
c.24270+2T>A (n.24270+2T>A)
6g.152151958C>ACA366086820SYNE1c.777+1G>T (n.777+1G>T)
c.24312+1G>T (n.24312+1G>T)
c.24099+1G>T (n.24099+1G>T)
c.47+1G>T
c.226+1G>T
c.84+1G>T (n.84+1G>T)
c.23097+1G>T (n.23097+1G>T)
n.991+1G>T
c.3078+1G>T (n.3078+1G>T)
n.8004+1G>T
c.2250+1G>T (n.2250+1G>T)
n.7896+1G>T
n.857+1G>T
n.374+1G>T
n.1149+1G>T
c.24348+1G>T (n.24348+1G>T)
c.24336+1G>T (n.24336+1G>T)
c.24327+1G>T (n.24327+1G>T)
c.24297+1G>T (n.24297+1G>T)
c.24333+1G>T (n.24333+1G>T)
c.24276+1G>T (n.24276+1G>T)
c.24207+1G>T (n.24207+1G>T)
c.24195+1G>T (n.24195+1G>T)
c.24192+1G>T (n.24192+1G>T)
c.24189+1G>T (n.24189+1G>T)
c.24345+1G>T (n.24345+1G>T)
c.24183+1G>T (n.24183+1G>T)
c.22623+1G>T (n.22623+1G>T)
c.22116+1G>T (n.22116+1G>T)
c.17583+1G>T (n.17583+1G>T)
c.918+1G>T (n.918+1G>T)
c.24321+1G>T (n.24321+1G>T)
c.24270+1G>T (n.24270+1G>T)
 dbSNP
6g.152151958C=CA1673186704SYNE1c.777+1G= (n.777+1G=)
c.24312+1G= (n.24312+1G=)
c.24099+1G= (n.24099+1G=)
c.47+1G=
c.226+1G=
c.84+1G= (n.84+1G=)
c.23097+1G= (n.23097+1G=)
n.991+1G=
c.3078+1G= (n.3078+1G=)
n.8004+1G=
c.2250+1G= (n.2250+1G=)
n.7896+1G=
n.857+1G=
n.374+1G=
n.1149+1G=
c.24348+1G= (n.24348+1G=)
c.24336+1G= (n.24336+1G=)
c.24327+1G= (n.24327+1G=)
c.24297+1G= (n.24297+1G=)
c.24333+1G= (n.24333+1G=)
c.24276+1G= (n.24276+1G=)
c.24207+1G= (n.24207+1G=)
c.24195+1G= (n.24195+1G=)
c.24192+1G= (n.24192+1G=)
c.24189+1G= (n.24189+1G=)
c.24345+1G= (n.24345+1G=)
c.24183+1G= (n.24183+1G=)
c.22623+1G= (n.22623+1G=)
c.22116+1G= (n.22116+1G=)
c.17583+1G= (n.17583+1G=)
c.918+1G= (n.918+1G=)
c.24321+1G= (n.24321+1G=)
c.24270+1G= (n.24270+1G=)
6g.152151958C>GCA366086819SYNE1c.777+1G>C (n.777+1G>C)
c.24312+1G>C (n.24312+1G>C)
c.24099+1G>C (n.24099+1G>C)
c.47+1G>C
c.226+1G>C
c.84+1G>C (n.84+1G>C)
c.23097+1G>C (n.23097+1G>C)
n.991+1G>C
c.3078+1G>C (n.3078+1G>C)
n.8004+1G>C
c.2250+1G>C (n.2250+1G>C)
n.7896+1G>C
n.857+1G>C
n.374+1G>C
n.1149+1G>C
c.24348+1G>C (n.24348+1G>C)
c.24336+1G>C (n.24336+1G>C)
c.24327+1G>C (n.24327+1G>C)
c.24297+1G>C (n.24297+1G>C)
c.24333+1G>C (n.24333+1G>C)
c.24276+1G>C (n.24276+1G>C)
c.24207+1G>C (n.24207+1G>C)
c.24195+1G>C (n.24195+1G>C)
c.24192+1G>C (n.24192+1G>C)
c.24189+1G>C (n.24189+1G>C)
c.24345+1G>C (n.24345+1G>C)
c.24183+1G>C (n.24183+1G>C)
c.22623+1G>C (n.22623+1G>C)
c.22116+1G>C (n.22116+1G>C)
c.17583+1G>C (n.17583+1G>C)
c.918+1G>C (n.918+1G>C)
c.24321+1G>C (n.24321+1G>C)
c.24270+1G>C (n.24270+1G>C)
6g.152151958C>TCA4053220SYNE1c.777+1G>A (n.777+1G>A)
c.24312+1G>A (n.24312+1G>A)
c.24099+1G>A (n.24099+1G>A)
c.47+1G>A
c.226+1G>A
c.84+1G>A (n.84+1G>A)
c.23097+1G>A (n.23097+1G>A)
n.991+1G>A
c.3078+1G>A (n.3078+1G>A)
n.8004+1G>A
c.2250+1G>A (n.2250+1G>A)
n.7896+1G>A
n.857+1G>A
n.374+1G>A
n.1149+1G>A
c.24348+1G>A (n.24348+1G>A)
c.24336+1G>A (n.24336+1G>A)
c.24327+1G>A (n.24327+1G>A)
c.24297+1G>A (n.24297+1G>A)
c.24333+1G>A (n.24333+1G>A)
c.24276+1G>A (n.24276+1G>A)
c.24207+1G>A (n.24207+1G>A)
c.24195+1G>A (n.24195+1G>A)
c.24192+1G>A (n.24192+1G>A)
c.24189+1G>A (n.24189+1G>A)
c.24345+1G>A (n.24345+1G>A)
c.24183+1G>A (n.24183+1G>A)
c.22623+1G>A (n.22623+1G>A)
c.22116+1G>A (n.22116+1G>A)
c.17583+1G>A (n.17583+1G>A)
c.918+1G>A (n.918+1G>A)
c.24321+1G>A (n.24321+1G>A)
c.24270+1G>A (n.24270+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152151959C>ACA366086821SYNE1c.777G>T (p.Lys259Asn)
c.24312G>T (p.Lys8104Asn)
c.24099G>T (p.Lys8033Asn)
c.47G>T
c.226G>T
c.84G>T (p.Lys28Asn)
c.23097G>T (p.Lys7699Asn)
n.991G>T
c.3078G>T (p.Lys1026Asn)
n.8004G>T
c.2250G>T (p.Lys750Asn)
n.7896G>T
n.857G>T
n.374G>T
n.1149G>T
c.24348G>T (p.Lys8116Asn)
c.24336G>T (p.Lys8112Asn)
c.24327G>T (p.Lys8109Asn)
c.24297G>T (p.Lys8099Asn)
c.24333G>T (p.Lys8111Asn)
c.24276G>T (p.Lys8092Asn)
c.24207G>T (p.Lys8069Asn)
c.24195G>T (p.Lys8065Asn)
c.24192G>T (p.Lys8064Asn)
c.24189G>T (p.Lys8063Asn)
c.24345G>T (p.Lys8115Asn)
c.24183G>T (p.Lys8061Asn)
c.22623G>T (p.Lys7541Asn)
c.22116G>T (p.Lys7372Asn)
c.17583G>T (p.Lys5861Asn)
c.918G>T (p.Lys306Asn)
c.24321G>T (p.Lys8107Asn)
c.24270G>T (p.Lys8090Asn)
6g.152151959C>GCA366086822SYNE1c.777G>C (p.Lys259Asn)
c.24312G>C (p.Lys8104Asn)
c.24099G>C (p.Lys8033Asn)
c.47G>C
c.226G>C
c.84G>C (p.Lys28Asn)
c.23097G>C (p.Lys7699Asn)
n.991G>C
c.3078G>C (p.Lys1026Asn)
n.8004G>C
c.2250G>C (p.Lys750Asn)
n.7896G>C
n.857G>C
n.374G>C
n.1149G>C
c.24348G>C (p.Lys8116Asn)
c.24336G>C (p.Lys8112Asn)
c.24327G>C (p.Lys8109Asn)
c.24297G>C (p.Lys8099Asn)
c.24333G>C (p.Lys8111Asn)
c.24276G>C (p.Lys8092Asn)
c.24207G>C (p.Lys8069Asn)
c.24195G>C (p.Lys8065Asn)
c.24192G>C (p.Lys8064Asn)
c.24189G>C (p.Lys8063Asn)
c.24345G>C (p.Lys8115Asn)
c.24183G>C (p.Lys8061Asn)
c.22623G>C (p.Lys7541Asn)
c.22116G>C (p.Lys7372Asn)
c.17583G>C (p.Lys5861Asn)
c.918G>C (p.Lys306Asn)
c.24321G>C (p.Lys8107Asn)
c.24270G>C (p.Lys8090Asn)
6g.152151959C>TCA452748191SYNE1c.777G>A (p.Lys259=)
c.24312G>A (p.Lys8104=)
c.24099G>A (p.Lys8033=)
c.47G>A
c.226G>A
c.84G>A (p.Lys28=)
c.23097G>A (p.Lys7699=)
n.991G>A
c.3078G>A (p.Lys1026=)
n.8004G>A
c.2250G>A (p.Lys750=)
n.7896G>A
n.857G>A
n.374G>A
n.1149G>A
c.24348G>A (p.Lys8116=)
c.24336G>A (p.Lys8112=)
c.24327G>A (p.Lys8109=)
c.24297G>A (p.Lys8099=)
c.24333G>A (p.Lys8111=)
c.24276G>A (p.Lys8092=)
c.24207G>A (p.Lys8069=)
c.24195G>A (p.Lys8065=)
c.24192G>A (p.Lys8064=)
c.24189G>A (p.Lys8063=)
c.24345G>A (p.Lys8115=)
c.24183G>A (p.Lys8061=)
c.22623G>A (p.Lys7541=)
c.22116G>A (p.Lys7372=)
c.17583G>A (p.Lys5861=)
c.918G>A (p.Lys306=)
c.24321G>A (p.Lys8107=)
c.24270G>A (p.Lys8090=)
6g.152151960T>ACA366086823SYNE1c.776A>T (p.Lys259Met)
c.24311A>T (p.Lys8104Met)
c.24098A>T (p.Lys8033Met)
c.46A>T
c.225A>T
c.83A>T (p.Lys28Met)
c.23096A>T (p.Lys7699Met)
n.990A>T
c.3077A>T (p.Lys1026Met)
n.8003A>T
c.2249A>T (p.Lys750Met)
n.7895A>T
n.856A>T
n.373A>T
n.1148A>T
c.24347A>T (p.Lys8116Met)
c.24335A>T (p.Lys8112Met)
c.24326A>T (p.Lys8109Met)
c.24296A>T (p.Lys8099Met)
c.24332A>T (p.Lys8111Met)
c.24275A>T (p.Lys8092Met)
c.24206A>T (p.Lys8069Met)
c.24194A>T (p.Lys8065Met)
c.24191A>T (p.Lys8064Met)
c.24188A>T (p.Lys8063Met)
c.24344A>T (p.Lys8115Met)
c.24182A>T (p.Lys8061Met)
c.22622A>T (p.Lys7541Met)
c.22115A>T (p.Lys7372Met)
c.17582A>T (p.Lys5861Met)
c.917A>T (p.Lys306Met)
c.24320A>T (p.Lys8107Met)
c.24269A>T (p.Lys8090Met)
6g.152151960T>CCA366086824SYNE1c.776A>G (p.Lys259Arg)
c.24311A>G (p.Lys8104Arg)
c.24098A>G (p.Lys8033Arg)
c.46A>G
c.225A>G
c.83A>G (p.Lys28Arg)
c.23096A>G (p.Lys7699Arg)
n.990A>G
c.3077A>G (p.Lys1026Arg)
n.8003A>G
c.2249A>G (p.Lys750Arg)
n.7895A>G
n.856A>G
n.373A>G
n.1148A>G
c.24347A>G (p.Lys8116Arg)
c.24335A>G (p.Lys8112Arg)
c.24326A>G (p.Lys8109Arg)
c.24296A>G (p.Lys8099Arg)
c.24332A>G (p.Lys8111Arg)
c.24275A>G (p.Lys8092Arg)
c.24206A>G (p.Lys8069Arg)
c.24194A>G (p.Lys8065Arg)
c.24191A>G (p.Lys8064Arg)
c.24188A>G (p.Lys8063Arg)
c.24344A>G (p.Lys8115Arg)
c.24182A>G (p.Lys8061Arg)
c.22622A>G (p.Lys7541Arg)
c.22115A>G (p.Lys7372Arg)
c.17582A>G (p.Lys5861Arg)
c.917A>G (p.Lys306Arg)
c.24320A>G (p.Lys8107Arg)
c.24269A>G (p.Lys8090Arg)
6g.152151960T>GCA366086825SYNE1c.776A>C (p.Lys259Thr)
c.24311A>C (p.Lys8104Thr)
c.24098A>C (p.Lys8033Thr)
c.46A>C
c.225A>C
c.83A>C (p.Lys28Thr)
c.23096A>C (p.Lys7699Thr)
n.990A>C
c.3077A>C (p.Lys1026Thr)
n.8003A>C
c.2249A>C (p.Lys750Thr)
n.7895A>C
n.856A>C
n.373A>C
n.1148A>C
c.24347A>C (p.Lys8116Thr)
c.24335A>C (p.Lys8112Thr)
c.24326A>C (p.Lys8109Thr)
c.24296A>C (p.Lys8099Thr)
c.24332A>C (p.Lys8111Thr)
c.24275A>C (p.Lys8092Thr)
c.24206A>C (p.Lys8069Thr)
c.24194A>C (p.Lys8065Thr)
c.24191A>C (p.Lys8064Thr)
c.24188A>C (p.Lys8063Thr)
c.24344A>C (p.Lys8115Thr)
c.24182A>C (p.Lys8061Thr)
c.22622A>C (p.Lys7541Thr)
c.22115A>C (p.Lys7372Thr)
c.17582A>C (p.Lys5861Thr)
c.917A>C (p.Lys306Thr)
c.24320A>C (p.Lys8107Thr)
c.24269A>C (p.Lys8090Thr)
6g.152151961T>ACA366086826SYNE1c.775A>T (p.Lys259Ter)
c.24310A>T (p.Lys8104Ter)
c.24097A>T (p.Lys8033Ter)
c.45A>T
c.224A>T
c.82A>T (p.Lys28Ter)
c.23095A>T (p.Lys7699Ter)
n.989A>T
c.3076A>T (p.Lys1026Ter)
n.8002A>T
c.2248A>T (p.Lys750Ter)
n.7894A>T
n.855A>T
n.372A>T
n.1147A>T
c.24346A>T (p.Lys8116Ter)
c.24334A>T (p.Lys8112Ter)
c.24325A>T (p.Lys8109Ter)
c.24295A>T (p.Lys8099Ter)
c.24331A>T (p.Lys8111Ter)
c.24274A>T (p.Lys8092Ter)
c.24205A>T (p.Lys8069Ter)
c.24193A>T (p.Lys8065Ter)
c.24190A>T (p.Lys8064Ter)
c.24187A>T (p.Lys8063Ter)
c.24343A>T (p.Lys8115Ter)
c.24181A>T (p.Lys8061Ter)
c.22621A>T (p.Lys7541Ter)
c.22114A>T (p.Lys7372Ter)
c.17581A>T (p.Lys5861Ter)
c.916A>T (p.Lys306Ter)
c.24319A>T (p.Lys8107Ter)
c.24268A>T (p.Lys8090Ter)
6g.152151961T>CCA366086827SYNE1c.775A>G (p.Lys259Glu)
c.24310A>G (p.Lys8104Glu)
c.24097A>G (p.Lys8033Glu)
c.45A>G
c.224A>G
c.82A>G (p.Lys28Glu)
c.23095A>G (p.Lys7699Glu)
n.989A>G
c.3076A>G (p.Lys1026Glu)
n.8002A>G
c.2248A>G (p.Lys750Glu)
n.7894A>G
n.855A>G
n.372A>G
n.1147A>G
c.24346A>G (p.Lys8116Glu)
c.24334A>G (p.Lys8112Glu)
c.24325A>G (p.Lys8109Glu)
c.24295A>G (p.Lys8099Glu)
c.24331A>G (p.Lys8111Glu)
c.24274A>G (p.Lys8092Glu)
c.24205A>G (p.Lys8069Glu)
c.24193A>G (p.Lys8065Glu)
c.24190A>G (p.Lys8064Glu)
c.24187A>G (p.Lys8063Glu)
c.24343A>G (p.Lys8115Glu)
c.24181A>G (p.Lys8061Glu)
c.22621A>G (p.Lys7541Glu)
c.22114A>G (p.Lys7372Glu)
c.17581A>G (p.Lys5861Glu)
c.916A>G (p.Lys306Glu)
c.24319A>G (p.Lys8107Glu)
c.24268A>G (p.Lys8090Glu)
 ClinVar dbSNP
6g.152151961T>GCA366086828SYNE1c.775A>C (p.Lys259Gln)
c.24310A>C (p.Lys8104Gln)
c.24097A>C (p.Lys8033Gln)
c.45A>C
c.224A>C
c.82A>C (p.Lys28Gln)
c.23095A>C (p.Lys7699Gln)
n.989A>C
c.3076A>C (p.Lys1026Gln)
n.8002A>C
c.2248A>C (p.Lys750Gln)
n.7894A>C
n.855A>C
n.372A>C
n.1147A>C
c.24346A>C (p.Lys8116Gln)
c.24334A>C (p.Lys8112Gln)
c.24325A>C (p.Lys8109Gln)
c.24295A>C (p.Lys8099Gln)
c.24331A>C (p.Lys8111Gln)
c.24274A>C (p.Lys8092Gln)
c.24205A>C (p.Lys8069Gln)
c.24193A>C (p.Lys8065Gln)
c.24190A>C (p.Lys8064Gln)
c.24187A>C (p.Lys8063Gln)
c.24343A>C (p.Lys8115Gln)
c.24181A>C (p.Lys8061Gln)
c.22621A>C (p.Lys7541Gln)
c.22114A>C (p.Lys7372Gln)
c.17581A>C (p.Lys5861Gln)
c.916A>C (p.Lys306Gln)
c.24319A>C (p.Lys8107Gln)
c.24268A>C (p.Lys8090Gln)
 gnomAD v4
6g.152151961T=CA1673186710SYNE1c.775A= (p.Lys259=)
c.24310A= (p.Lys8104=)
c.24097A= (p.Lys8033=)
c.45A=
c.224A=
c.82A= (p.Lys28=)
c.23095A= (p.Lys7699=)
n.989A=
c.3076A= (p.Lys1026=)
n.8002A=
c.2248A= (p.Lys750=)
n.7894A=
n.855A=
n.372A=
n.1147A=
c.24346A= (p.Lys8116=)
c.24334A= (p.Lys8112=)
c.24325A= (p.Lys8109=)
c.24295A= (p.Lys8099=)
c.24331A= (p.Lys8111=)
c.24274A= (p.Lys8092=)
c.24205A= (p.Lys8069=)
c.24193A= (p.Lys8065=)
c.24190A= (p.Lys8064=)
c.24187A= (p.Lys8063=)
c.24343A= (p.Lys8115=)
c.24181A= (p.Lys8061=)
c.22621A= (p.Lys7541=)
c.22114A= (p.Lys7372=)
c.17581A= (p.Lys5861=)
c.916A= (p.Lys306=)
c.24319A= (p.Lys8107=)
c.24268A= (p.Lys8090=)
6g.152151962G>ACA452748192SYNE1c.774C>T (p.Leu258=)
c.24309C>T (p.Leu8103=)
c.24096C>T (p.Leu8032=)
c.44C>T
c.223C>T
c.81C>T (p.Leu27=)
c.23094C>T (p.Leu7698=)
n.988C>T
c.3075C>T (p.Leu1025=)
n.8001C>T
c.2247C>T (p.Leu749=)
n.7893C>T
n.854C>T
n.371C>T
n.1146C>T
c.24345C>T (p.Leu8115=)
c.24333C>T (p.Leu8111=)
c.24324C>T (p.Leu8108=)
c.24294C>T (p.Leu8098=)
c.24330C>T (p.Leu8110=)
c.24273C>T (p.Leu8091=)
c.24204C>T (p.Leu8068=)
c.24192C>T (p.Leu8064=)
c.24189C>T (p.Leu8063=)
c.24186C>T (p.Leu8062=)
c.24342C>T (p.Leu8114=)
c.24180C>T (p.Leu8060=)
c.22620C>T (p.Leu7540=)
c.22113C>T (p.Leu7371=)
c.17580C>T (p.Leu5860=)
c.915C>T (p.Leu305=)
c.24318C>T (p.Leu8106=)
c.24267C>T (p.Leu8089=)
6g.152151962G>CCA4053221SYNE1c.774C>G (p.Leu258=)
c.24309C>G (p.Leu8103=)
c.24096C>G (p.Leu8032=)
c.44C>G
c.223C>G
c.81C>G (p.Leu27=)
c.23094C>G (p.Leu7698=)
n.988C>G
c.3075C>G (p.Leu1025=)
n.8001C>G
c.2247C>G (p.Leu749=)
n.7893C>G
n.854C>G
n.371C>G
n.1146C>G
c.24345C>G (p.Leu8115=)
c.24333C>G (p.Leu8111=)
c.24324C>G (p.Leu8108=)
c.24294C>G (p.Leu8098=)
c.24330C>G (p.Leu8110=)
c.24273C>G (p.Leu8091=)
c.24204C>G (p.Leu8068=)
c.24192C>G (p.Leu8064=)
c.24189C>G (p.Leu8063=)
c.24186C>G (p.Leu8062=)
c.24342C>G (p.Leu8114=)
c.24180C>G (p.Leu8060=)
c.22620C>G (p.Leu7540=)
c.22113C>G (p.Leu7371=)
c.17580C>G (p.Leu5860=)
c.915C>G (p.Leu305=)
c.24318C>G (p.Leu8106=)
c.24267C>G (p.Leu8089=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151962G=CA1673186719SYNE1c.774C= (p.Leu258=)
c.24309C= (p.Leu8103=)
c.24096C= (p.Leu8032=)
c.44C=
c.223C=
c.81C= (p.Leu27=)
c.23094C= (p.Leu7698=)
n.988C=
c.3075C= (p.Leu1025=)
n.8001C=
c.2247C= (p.Leu749=)
n.7893C=
n.854C=
n.371C=
n.1146C=
c.24345C= (p.Leu8115=)
c.24333C= (p.Leu8111=)
c.24324C= (p.Leu8108=)
c.24294C= (p.Leu8098=)
c.24330C= (p.Leu8110=)
c.24273C= (p.Leu8091=)
c.24204C= (p.Leu8068=)
c.24192C= (p.Leu8064=)
c.24189C= (p.Leu8063=)
c.24186C= (p.Leu8062=)
c.24342C= (p.Leu8114=)
c.24180C= (p.Leu8060=)
c.22620C= (p.Leu7540=)
c.22113C= (p.Leu7371=)
c.17580C= (p.Leu5860=)
c.915C= (p.Leu305=)
c.24318C= (p.Leu8106=)
c.24267C= (p.Leu8089=)
6g.152151962G>TCA452748193SYNE1c.774C>A (p.Leu258=)
c.24309C>A (p.Leu8103=)
c.24096C>A (p.Leu8032=)
c.44C>A
c.223C>A
c.81C>A (p.Leu27=)
c.23094C>A (p.Leu7698=)
n.988C>A
c.3075C>A (p.Leu1025=)
n.8001C>A
c.2247C>A (p.Leu749=)
n.7893C>A
n.854C>A
n.371C>A
n.1146C>A
c.24345C>A (p.Leu8115=)
c.24333C>A (p.Leu8111=)
c.24324C>A (p.Leu8108=)
c.24294C>A (p.Leu8098=)
c.24330C>A (p.Leu8110=)
c.24273C>A (p.Leu8091=)
c.24204C>A (p.Leu8068=)
c.24192C>A (p.Leu8064=)
c.24189C>A (p.Leu8063=)
c.24186C>A (p.Leu8062=)
c.24342C>A (p.Leu8114=)
c.24180C>A (p.Leu8060=)
c.22620C>A (p.Leu7540=)
c.22113C>A (p.Leu7371=)
c.17580C>A (p.Leu5860=)
c.915C>A (p.Leu305=)
c.24318C>A (p.Leu8106=)
c.24267C>A (p.Leu8089=)
6g.152151963A>CCA366086829SYNE1c.773T>G (p.Leu258Arg)
c.24308T>G (p.Leu8103Arg)
c.24095T>G (p.Leu8032Arg)
c.43T>G
c.222T>G
c.80T>G (p.Leu27Arg)
c.23093T>G (p.Leu7698Arg)
n.987T>G
c.3074T>G (p.Leu1025Arg)
n.8000T>G
c.2246T>G (p.Leu749Arg)
n.7892T>G
n.853T>G
n.370T>G
n.1145T>G
c.24344T>G (p.Leu8115Arg)
c.24332T>G (p.Leu8111Arg)
c.24323T>G (p.Leu8108Arg)
c.24293T>G (p.Leu8098Arg)
c.24329T>G (p.Leu8110Arg)
c.24272T>G (p.Leu8091Arg)
c.24203T>G (p.Leu8068Arg)
c.24191T>G (p.Leu8064Arg)
c.24188T>G (p.Leu8063Arg)
c.24185T>G (p.Leu8062Arg)
c.24341T>G (p.Leu8114Arg)
c.24179T>G (p.Leu8060Arg)
c.22619T>G (p.Leu7540Arg)
c.22112T>G (p.Leu7371Arg)
c.17579T>G (p.Leu5860Arg)
c.914T>G (p.Leu305Arg)
c.24317T>G (p.Leu8106Arg)
c.24266T>G (p.Leu8089Arg)
6g.152151963A>GCA366086830SYNE1c.773T>C (p.Leu258Pro)
c.24308T>C (p.Leu8103Pro)
c.24095T>C (p.Leu8032Pro)
c.43T>C
c.222T>C
c.80T>C (p.Leu27Pro)
c.23093T>C (p.Leu7698Pro)
n.987T>C
c.3074T>C (p.Leu1025Pro)
n.8000T>C
c.2246T>C (p.Leu749Pro)
n.7892T>C
n.853T>C
n.370T>C
n.1145T>C
c.24344T>C (p.Leu8115Pro)
c.24332T>C (p.Leu8111Pro)
c.24323T>C (p.Leu8108Pro)
c.24293T>C (p.Leu8098Pro)
c.24329T>C (p.Leu8110Pro)
c.24272T>C (p.Leu8091Pro)
c.24203T>C (p.Leu8068Pro)
c.24191T>C (p.Leu8064Pro)
c.24188T>C (p.Leu8063Pro)
c.24185T>C (p.Leu8062Pro)
c.24341T>C (p.Leu8114Pro)
c.24179T>C (p.Leu8060Pro)
c.22619T>C (p.Leu7540Pro)
c.22112T>C (p.Leu7371Pro)
c.17579T>C (p.Leu5860Pro)
c.914T>C (p.Leu305Pro)
c.24317T>C (p.Leu8106Pro)
c.24266T>C (p.Leu8089Pro)
6g.152151963A>TCA366086831SYNE1c.773T>A (p.Leu258His)
c.24308T>A (p.Leu8103His)
c.24095T>A (p.Leu8032His)
c.43T>A
c.222T>A
c.80T>A (p.Leu27His)
c.23093T>A (p.Leu7698His)
n.987T>A
c.3074T>A (p.Leu1025His)
n.8000T>A
c.2246T>A (p.Leu749His)
n.7892T>A
n.853T>A
n.370T>A
n.1145T>A
c.24344T>A (p.Leu8115His)
c.24332T>A (p.Leu8111His)
c.24323T>A (p.Leu8108His)
c.24293T>A (p.Leu8098His)
c.24329T>A (p.Leu8110His)
c.24272T>A (p.Leu8091His)
c.24203T>A (p.Leu8068His)
c.24191T>A (p.Leu8064His)
c.24188T>A (p.Leu8063His)
c.24185T>A (p.Leu8062His)
c.24341T>A (p.Leu8114His)
c.24179T>A (p.Leu8060His)
c.22619T>A (p.Leu7540His)
c.22112T>A (p.Leu7371His)
c.17579T>A (p.Leu5860His)
c.914T>A (p.Leu305His)
c.24317T>A (p.Leu8106His)
c.24266T>A (p.Leu8089His)
6g.152151964G>ACA366086833SYNE1c.772C>T (p.Leu258Phe)
c.24307C>T (p.Leu8103Phe)
c.24094C>T (p.Leu8032Phe)
c.42C>T
c.221C>T
c.79C>T (p.Leu27Phe)
c.23092C>T (p.Leu7698Phe)
n.986C>T
c.3073C>T (p.Leu1025Phe)
n.7999C>T
c.2245C>T (p.Leu749Phe)
n.7891C>T
n.852C>T
n.369C>T
n.1144C>T
c.24343C>T (p.Leu8115Phe)
c.24331C>T (p.Leu8111Phe)
c.24322C>T (p.Leu8108Phe)
c.24292C>T (p.Leu8098Phe)
c.24328C>T (p.Leu8110Phe)
c.24271C>T (p.Leu8091Phe)
c.24202C>T (p.Leu8068Phe)
c.24190C>T (p.Leu8064Phe)
c.24187C>T (p.Leu8063Phe)
c.24184C>T (p.Leu8062Phe)
c.24340C>T (p.Leu8114Phe)
c.24178C>T (p.Leu8060Phe)
c.22618C>T (p.Leu7540Phe)
c.22111C>T (p.Leu7371Phe)
c.17578C>T (p.Leu5860Phe)
c.913C>T (p.Leu305Phe)
c.24316C>T (p.Leu8106Phe)
c.24265C>T (p.Leu8089Phe)
6g.152151964G>CCA366086834SYNE1c.772C>G (p.Leu258Val)
c.24307C>G (p.Leu8103Val)
c.24094C>G (p.Leu8032Val)
c.42C>G
c.221C>G
c.79C>G (p.Leu27Val)
c.23092C>G (p.Leu7698Val)
n.986C>G
c.3073C>G (p.Leu1025Val)
n.7999C>G
c.2245C>G (p.Leu749Val)
n.7891C>G
n.852C>G
n.369C>G
n.1144C>G
c.24343C>G (p.Leu8115Val)
c.24331C>G (p.Leu8111Val)
c.24322C>G (p.Leu8108Val)
c.24292C>G (p.Leu8098Val)
c.24328C>G (p.Leu8110Val)
c.24271C>G (p.Leu8091Val)
c.24202C>G (p.Leu8068Val)
c.24190C>G (p.Leu8064Val)
c.24187C>G (p.Leu8063Val)
c.24184C>G (p.Leu8062Val)
c.24340C>G (p.Leu8114Val)
c.24178C>G (p.Leu8060Val)
c.22618C>G (p.Leu7540Val)
c.22111C>G (p.Leu7371Val)
c.17578C>G (p.Leu5860Val)
c.913C>G (p.Leu305Val)
c.24316C>G (p.Leu8106Val)
c.24265C>G (p.Leu8089Val)
 dbSNP gnomAD v3 gnomAD v4
6g.152151964G=CA1673186720SYNE1c.772C= (p.Leu258=)
c.24307C= (p.Leu8103=)
c.24094C= (p.Leu8032=)
c.42C=
c.221C=
c.79C= (p.Leu27=)
c.23092C= (p.Leu7698=)
n.986C=
c.3073C= (p.Leu1025=)
n.7999C=
c.2245C= (p.Leu749=)
n.7891C=
n.852C=
n.369C=
n.1144C=
c.24343C= (p.Leu8115=)
c.24331C= (p.Leu8111=)
c.24322C= (p.Leu8108=)
c.24292C= (p.Leu8098=)
c.24328C= (p.Leu8110=)
c.24271C= (p.Leu8091=)
c.24202C= (p.Leu8068=)
c.24190C= (p.Leu8064=)
c.24187C= (p.Leu8063=)
c.24184C= (p.Leu8062=)
c.24340C= (p.Leu8114=)
c.24178C= (p.Leu8060=)
c.22618C= (p.Leu7540=)
c.22111C= (p.Leu7371=)
c.17578C= (p.Leu5860=)
c.913C= (p.Leu305=)
c.24316C= (p.Leu8106=)
c.24265C= (p.Leu8089=)
6g.152151964G>TCA366086832SYNE1c.772C>A (p.Leu258Ile)
c.24307C>A (p.Leu8103Ile)
c.24094C>A (p.Leu8032Ile)
c.42C>A
c.221C>A
c.79C>A (p.Leu27Ile)
c.23092C>A (p.Leu7698Ile)
n.986C>A
c.3073C>A (p.Leu1025Ile)
n.7999C>A
c.2245C>A (p.Leu749Ile)
n.7891C>A
n.852C>A
n.369C>A
n.1144C>A
c.24343C>A (p.Leu8115Ile)
c.24331C>A (p.Leu8111Ile)
c.24322C>A (p.Leu8108Ile)
c.24292C>A (p.Leu8098Ile)
c.24328C>A (p.Leu8110Ile)
c.24271C>A (p.Leu8091Ile)
c.24202C>A (p.Leu8068Ile)
c.24190C>A (p.Leu8064Ile)
c.24187C>A (p.Leu8063Ile)
c.24184C>A (p.Leu8062Ile)
c.24340C>A (p.Leu8114Ile)
c.24178C>A (p.Leu8060Ile)
c.22618C>A (p.Leu7540Ile)
c.22111C>A (p.Leu7371Ile)
c.17578C>A (p.Leu5860Ile)
c.913C>A (p.Leu305Ile)
c.24316C>A (p.Leu8106Ile)
c.24265C>A (p.Leu8089Ile)
6g.152151965T>ACA366086836SYNE1c.771A>T (p.Arg257Ser)
c.24306A>T (p.Arg8102Ser)
c.24093A>T (p.Arg8031Ser)
c.41A>T
c.220A>T
c.78A>T (p.Arg26Ser)
c.23091A>T (p.Arg7697Ser)
n.985A>T
c.3072A>T (p.Arg1024Ser)
n.7998A>T
c.2244A>T (p.Arg748Ser)
n.7890A>T
n.851A>T
n.368A>T
n.1143A>T
c.24342A>T (p.Arg8114Ser)
c.24330A>T (p.Arg8110Ser)
c.24321A>T (p.Arg8107Ser)
c.24291A>T (p.Arg8097Ser)
c.24327A>T (p.Arg8109Ser)
c.24270A>T (p.Arg8090Ser)
c.24201A>T (p.Arg8067Ser)
c.24189A>T (p.Arg8063Ser)
c.24186A>T (p.Arg8062Ser)
c.24183A>T (p.Arg8061Ser)
c.24339A>T (p.Arg8113Ser)
c.24177A>T (p.Arg8059Ser)
c.22617A>T (p.Arg7539Ser)
c.22110A>T (p.Arg7370Ser)
c.17577A>T (p.Arg5859Ser)
c.912A>T (p.Arg304Ser)
c.24315A>T (p.Arg8105Ser)
c.24264A>T (p.Arg8088Ser)
6g.152151965T>CCA452748194SYNE1c.771A>G (p.Arg257=)
c.24306A>G (p.Arg8102=)
c.24093A>G (p.Arg8031=)
c.41A>G
c.220A>G
c.78A>G (p.Arg26=)
c.23091A>G (p.Arg7697=)
n.985A>G
c.3072A>G (p.Arg1024=)
n.7998A>G
c.2244A>G (p.Arg748=)
n.7890A>G
n.851A>G
n.368A>G
n.1143A>G
c.24342A>G (p.Arg8114=)
c.24330A>G (p.Arg8110=)
c.24321A>G (p.Arg8107=)
c.24291A>G (p.Arg8097=)
c.24327A>G (p.Arg8109=)
c.24270A>G (p.Arg8090=)
c.24201A>G (p.Arg8067=)
c.24189A>G (p.Arg8063=)
c.24186A>G (p.Arg8062=)
c.24183A>G (p.Arg8061=)
c.24339A>G (p.Arg8113=)
c.24177A>G (p.Arg8059=)
c.22617A>G (p.Arg7539=)
c.22110A>G (p.Arg7370=)
c.17577A>G (p.Arg5859=)
c.912A>G (p.Arg304=)
c.24315A>G (p.Arg8105=)
c.24264A>G (p.Arg8088=)
6g.152151965T>GCA366086835SYNE1c.771A>C (p.Arg257Ser)
c.24306A>C (p.Arg8102Ser)
c.24093A>C (p.Arg8031Ser)
c.41A>C
c.220A>C
c.78A>C (p.Arg26Ser)
c.23091A>C (p.Arg7697Ser)
n.985A>C
c.3072A>C (p.Arg1024Ser)
n.7998A>C
c.2244A>C (p.Arg748Ser)
n.7890A>C
n.851A>C
n.368A>C
n.1143A>C
c.24342A>C (p.Arg8114Ser)
c.24330A>C (p.Arg8110Ser)
c.24321A>C (p.Arg8107Ser)
c.24291A>C (p.Arg8097Ser)
c.24327A>C (p.Arg8109Ser)
c.24270A>C (p.Arg8090Ser)
c.24201A>C (p.Arg8067Ser)
c.24189A>C (p.Arg8063Ser)
c.24186A>C (p.Arg8062Ser)
c.24183A>C (p.Arg8061Ser)
c.24339A>C (p.Arg8113Ser)
c.24177A>C (p.Arg8059Ser)
c.22617A>C (p.Arg7539Ser)
c.22110A>C (p.Arg7370Ser)
c.17577A>C (p.Arg5859Ser)
c.912A>C (p.Arg304Ser)
c.24315A>C (p.Arg8105Ser)
c.24264A>C (p.Arg8088Ser)
6g.152151966C>ACA366086837SYNE1c.770G>T (p.Arg257Ile)
c.24305G>T (p.Arg8102Ile)
c.24092G>T (p.Arg8031Ile)
c.40G>T
c.219G>T
c.77G>T (p.Arg26Ile)
c.23090G>T (p.Arg7697Ile)
n.984G>T
c.3071G>T (p.Arg1024Ile)
n.7997G>T
c.2243G>T (p.Arg748Ile)
n.7889G>T
n.850G>T
n.367G>T
n.1142G>T
c.24341G>T (p.Arg8114Ile)
c.24329G>T (p.Arg8110Ile)
c.24320G>T (p.Arg8107Ile)
c.24290G>T (p.Arg8097Ile)
c.24326G>T (p.Arg8109Ile)
c.24269G>T (p.Arg8090Ile)
c.24200G>T (p.Arg8067Ile)
c.24188G>T (p.Arg8063Ile)
c.24185G>T (p.Arg8062Ile)
c.24182G>T (p.Arg8061Ile)
c.24338G>T (p.Arg8113Ile)
c.24176G>T (p.Arg8059Ile)
c.22616G>T (p.Arg7539Ile)
c.22109G>T (p.Arg7370Ile)
c.17576G>T (p.Arg5859Ile)
c.911G>T (p.Arg304Ile)
c.24314G>T (p.Arg8105Ile)
c.24263G>T (p.Arg8088Ile)
6g.152151966C>GCA366086838SYNE1c.770G>C (p.Arg257Thr)
c.24305G>C (p.Arg8102Thr)
c.24092G>C (p.Arg8031Thr)
c.40G>C
c.219G>C
c.77G>C (p.Arg26Thr)
c.23090G>C (p.Arg7697Thr)
n.984G>C
c.3071G>C (p.Arg1024Thr)
n.7997G>C
c.2243G>C (p.Arg748Thr)
n.7889G>C
n.850G>C
n.367G>C
n.1142G>C
c.24341G>C (p.Arg8114Thr)
c.24329G>C (p.Arg8110Thr)
c.24320G>C (p.Arg8107Thr)
c.24290G>C (p.Arg8097Thr)
c.24326G>C (p.Arg8109Thr)
c.24269G>C (p.Arg8090Thr)
c.24200G>C (p.Arg8067Thr)
c.24188G>C (p.Arg8063Thr)
c.24185G>C (p.Arg8062Thr)
c.24182G>C (p.Arg8061Thr)
c.24338G>C (p.Arg8113Thr)
c.24176G>C (p.Arg8059Thr)
c.22616G>C (p.Arg7539Thr)
c.22109G>C (p.Arg7370Thr)
c.17576G>C (p.Arg5859Thr)
c.911G>C (p.Arg304Thr)
c.24314G>C (p.Arg8105Thr)
c.24263G>C (p.Arg8088Thr)
6g.152151966C>TCA366086839SYNE1c.770G>A (p.Arg257Lys)
c.24305G>A (p.Arg8102Lys)
c.24092G>A (p.Arg8031Lys)
c.40G>A
c.219G>A
c.77G>A (p.Arg26Lys)
c.23090G>A (p.Arg7697Lys)
n.984G>A
c.3071G>A (p.Arg1024Lys)
n.7997G>A
c.2243G>A (p.Arg748Lys)
n.7889G>A
n.850G>A
n.367G>A
n.1142G>A
c.24341G>A (p.Arg8114Lys)
c.24329G>A (p.Arg8110Lys)
c.24320G>A (p.Arg8107Lys)
c.24290G>A (p.Arg8097Lys)
c.24326G>A (p.Arg8109Lys)
c.24269G>A (p.Arg8090Lys)
c.24200G>A (p.Arg8067Lys)
c.24188G>A (p.Arg8063Lys)
c.24185G>A (p.Arg8062Lys)
c.24182G>A (p.Arg8061Lys)
c.24338G>A (p.Arg8113Lys)
c.24176G>A (p.Arg8059Lys)
c.22616G>A (p.Arg7539Lys)
c.22109G>A (p.Arg7370Lys)
c.17576G>A (p.Arg5859Lys)
c.911G>A (p.Arg304Lys)
c.24314G>A (p.Arg8105Lys)
c.24263G>A (p.Arg8088Lys)
6g.152151967T>ACA366086840SYNE1c.769A>T (p.Arg257Ter)
c.24304A>T (p.Arg8102Ter)
c.24091A>T (p.Arg8031Ter)
c.39A>T
c.218A>T
c.76A>T (p.Arg26Ter)
c.23089A>T (p.Arg7697Ter)
n.983A>T
c.3070A>T (p.Arg1024Ter)
n.7996A>T
c.2242A>T (p.Arg748Ter)
n.7888A>T
n.849A>T
n.366A>T
n.1141A>T
c.24340A>T (p.Arg8114Ter)
c.24328A>T (p.Arg8110Ter)
c.24319A>T (p.Arg8107Ter)
c.24289A>T (p.Arg8097Ter)
c.24325A>T (p.Arg8109Ter)
c.24268A>T (p.Arg8090Ter)
c.24199A>T (p.Arg8067Ter)
c.24187A>T (p.Arg8063Ter)
c.24184A>T (p.Arg8062Ter)
c.24181A>T (p.Arg8061Ter)
c.24337A>T (p.Arg8113Ter)
c.24175A>T (p.Arg8059Ter)
c.22615A>T (p.Arg7539Ter)
c.22108A>T (p.Arg7370Ter)
c.17575A>T (p.Arg5859Ter)
c.910A>T (p.Arg304Ter)
c.24313A>T (p.Arg8105Ter)
c.24262A>T (p.Arg8088Ter)
6g.152151967T>CCA366086841SYNE1c.769A>G (p.Arg257Gly)
c.24304A>G (p.Arg8102Gly)
c.24091A>G (p.Arg8031Gly)
c.39A>G
c.218A>G
c.76A>G (p.Arg26Gly)
c.23089A>G (p.Arg7697Gly)
n.983A>G
c.3070A>G (p.Arg1024Gly)
n.7996A>G
c.2242A>G (p.Arg748Gly)
n.7888A>G
n.849A>G
n.366A>G
n.1141A>G
c.24340A>G (p.Arg8114Gly)
c.24328A>G (p.Arg8110Gly)
c.24319A>G (p.Arg8107Gly)
c.24289A>G (p.Arg8097Gly)
c.24325A>G (p.Arg8109Gly)
c.24268A>G (p.Arg8090Gly)
c.24199A>G (p.Arg8067Gly)
c.24187A>G (p.Arg8063Gly)
c.24184A>G (p.Arg8062Gly)
c.24181A>G (p.Arg8061Gly)
c.24337A>G (p.Arg8113Gly)
c.24175A>G (p.Arg8059Gly)
c.22615A>G (p.Arg7539Gly)
c.22108A>G (p.Arg7370Gly)
c.17575A>G (p.Arg5859Gly)
c.910A>G (p.Arg304Gly)
c.24313A>G (p.Arg8105Gly)
c.24262A>G (p.Arg8088Gly)
6g.152151967T>GCA452748196SYNE1c.769A>C (p.Arg257=)
c.24304A>C (p.Arg8102=)
c.24091A>C (p.Arg8031=)
c.39A>C
c.218A>C
c.76A>C (p.Arg26=)
c.23089A>C (p.Arg7697=)
n.983A>C
c.3070A>C (p.Arg1024=)
n.7996A>C
c.2242A>C (p.Arg748=)
n.7888A>C
n.849A>C
n.366A>C
n.1141A>C
c.24340A>C (p.Arg8114=)
c.24328A>C (p.Arg8110=)
c.24319A>C (p.Arg8107=)
c.24289A>C (p.Arg8097=)
c.24325A>C (p.Arg8109=)
c.24268A>C (p.Arg8090=)
c.24199A>C (p.Arg8067=)
c.24187A>C (p.Arg8063=)
c.24184A>C (p.Arg8062=)
c.24181A>C (p.Arg8061=)
c.24337A>C (p.Arg8113=)
c.24175A>C (p.Arg8059=)
c.22615A>C (p.Arg7539=)
c.22108A>C (p.Arg7370=)
c.17575A>C (p.Arg5859=)
c.910A>C (p.Arg304=)
c.24313A>C (p.Arg8105=)
c.24262A>C (p.Arg8088=)
6g.152151968G>ACA4053222SYNE1c.768C>T (p.Arg256=)
c.24303C>T (p.Arg8101=)
c.24090C>T (p.Arg8030=)
c.38C>T
c.217C>T
c.75C>T (p.Arg25=)
c.23088C>T (p.Arg7696=)
n.982C>T
c.3069C>T (p.Arg1023=)
n.7995C>T
c.2241C>T (p.Arg747=)
n.7887C>T
n.848C>T
n.365C>T
n.1140C>T
c.24339C>T (p.Arg8113=)
c.24327C>T (p.Arg8109=)
c.24318C>T (p.Arg8106=)
c.24288C>T (p.Arg8096=)
c.24324C>T (p.Arg8108=)
c.24267C>T (p.Arg8089=)
c.24198C>T (p.Arg8066=)
c.24186C>T (p.Arg8062=)
c.24183C>T (p.Arg8061=)
c.24180C>T (p.Arg8060=)
c.24336C>T (p.Arg8112=)
c.24174C>T (p.Arg8058=)
c.22614C>T (p.Arg7538=)
c.22107C>T (p.Arg7369=)
c.17574C>T (p.Arg5858=)
c.909C>T (p.Arg303=)
c.24312C>T (p.Arg8104=)
c.24261C>T (p.Arg8087=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151968G>CCA452748197SYNE1c.768C>G (p.Arg256=)
c.24303C>G (p.Arg8101=)
c.24090C>G (p.Arg8030=)
c.38C>G
c.217C>G
c.75C>G (p.Arg25=)
c.23088C>G (p.Arg7696=)
n.982C>G
c.3069C>G (p.Arg1023=)
n.7995C>G
c.2241C>G (p.Arg747=)
n.7887C>G
n.848C>G
n.365C>G
n.1140C>G
c.24339C>G (p.Arg8113=)
c.24327C>G (p.Arg8109=)
c.24318C>G (p.Arg8106=)
c.24288C>G (p.Arg8096=)
c.24324C>G (p.Arg8108=)
c.24267C>G (p.Arg8089=)
c.24198C>G (p.Arg8066=)
c.24186C>G (p.Arg8062=)
c.24183C>G (p.Arg8061=)
c.24180C>G (p.Arg8060=)
c.24336C>G (p.Arg8112=)
c.24174C>G (p.Arg8058=)
c.22614C>G (p.Arg7538=)
c.22107C>G (p.Arg7369=)
c.17574C>G (p.Arg5858=)
c.909C>G (p.Arg303=)
c.24312C>G (p.Arg8104=)
c.24261C>G (p.Arg8087=)
6g.152151968G=CA1673186721SYNE1c.768C= (p.Arg256=)
c.24303C= (p.Arg8101=)
c.24090C= (p.Arg8030=)
c.38C=
c.217C=
c.75C= (p.Arg25=)
c.23088C= (p.Arg7696=)
n.982C=
c.3069C= (p.Arg1023=)
n.7995C=
c.2241C= (p.Arg747=)
n.7887C=
n.848C=
n.365C=
n.1140C=
c.24339C= (p.Arg8113=)
c.24327C= (p.Arg8109=)
c.24318C= (p.Arg8106=)
c.24288C= (p.Arg8096=)
c.24324C= (p.Arg8108=)
c.24267C= (p.Arg8089=)
c.24198C= (p.Arg8066=)
c.24186C= (p.Arg8062=)
c.24183C= (p.Arg8061=)
c.24180C= (p.Arg8060=)
c.24336C= (p.Arg8112=)
c.24174C= (p.Arg8058=)
c.22614C= (p.Arg7538=)
c.22107C= (p.Arg7369=)
c.17574C= (p.Arg5858=)
c.909C= (p.Arg303=)
c.24312C= (p.Arg8104=)
c.24261C= (p.Arg8087=)
6g.152151968G>TCA452748199SYNE1c.768C>A (p.Arg256=)
c.24303C>A (p.Arg8101=)
c.24090C>A (p.Arg8030=)
c.38C>A
c.217C>A
c.75C>A (p.Arg25=)
c.23088C>A (p.Arg7696=)
n.982C>A
c.3069C>A (p.Arg1023=)
n.7995C>A
c.2241C>A (p.Arg747=)
n.7887C>A
n.848C>A
n.365C>A
n.1140C>A
c.24339C>A (p.Arg8113=)
c.24327C>A (p.Arg8109=)
c.24318C>A (p.Arg8106=)
c.24288C>A (p.Arg8096=)
c.24324C>A (p.Arg8108=)
c.24267C>A (p.Arg8089=)
c.24198C>A (p.Arg8066=)
c.24186C>A (p.Arg8062=)
c.24183C>A (p.Arg8061=)
c.24180C>A (p.Arg8060=)
c.24336C>A (p.Arg8112=)
c.24174C>A (p.Arg8058=)
c.22614C>A (p.Arg7538=)
c.22107C>A (p.Arg7369=)
c.17574C>A (p.Arg5858=)
c.909C>A (p.Arg303=)
c.24312C>A (p.Arg8104=)
c.24261C>A (p.Arg8087=)
6g.152151969C>ACA366086842SYNE1c.767G>T (p.Arg256Leu)
c.24302G>T (p.Arg8101Leu)
c.24089G>T (p.Arg8030Leu)
c.37G>T
c.216G>T
c.74G>T (p.Arg25Leu)
c.23087G>T (p.Arg7696Leu)
n.981G>T
c.3068G>T (p.Arg1023Leu)
n.7994G>T
c.2240G>T (p.Arg747Leu)
n.7886G>T
n.847G>T
n.364G>T
n.1139G>T
c.24338G>T (p.Arg8113Leu)
c.24326G>T (p.Arg8109Leu)
c.24317G>T (p.Arg8106Leu)
c.24287G>T (p.Arg8096Leu)
c.24323G>T (p.Arg8108Leu)
c.24266G>T (p.Arg8089Leu)
c.24197G>T (p.Arg8066Leu)
c.24185G>T (p.Arg8062Leu)
c.24182G>T (p.Arg8061Leu)
c.24179G>T (p.Arg8060Leu)
c.24335G>T (p.Arg8112Leu)
c.24173G>T (p.Arg8058Leu)
c.22613G>T (p.Arg7538Leu)
c.22106G>T (p.Arg7369Leu)
c.17573G>T (p.Arg5858Leu)
c.908G>T (p.Arg303Leu)
c.24311G>T (p.Arg8104Leu)
c.24260G>T (p.Arg8087Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152151969C=CA1673186724SYNE1c.767G= (p.Arg256=)
c.24302G= (p.Arg8101=)
c.24089G= (p.Arg8030=)
c.37G=
c.216G=
c.74G= (p.Arg25=)
c.23087G= (p.Arg7696=)
n.981G=
c.3068G= (p.Arg1023=)
n.7994G=
c.2240G= (p.Arg747=)
n.7886G=
n.847G=
n.364G=
n.1139G=
c.24338G= (p.Arg8113=)
c.24326G= (p.Arg8109=)
c.24317G= (p.Arg8106=)
c.24287G= (p.Arg8096=)
c.24323G= (p.Arg8108=)
c.24266G= (p.Arg8089=)
c.24197G= (p.Arg8066=)
c.24185G= (p.Arg8062=)
c.24182G= (p.Arg8061=)
c.24179G= (p.Arg8060=)
c.24335G= (p.Arg8112=)
c.24173G= (p.Arg8058=)
c.22613G= (p.Arg7538=)
c.22106G= (p.Arg7369=)
c.17573G= (p.Arg5858=)
c.908G= (p.Arg303=)
c.24311G= (p.Arg8104=)
c.24260G= (p.Arg8087=)
6g.152151969C>GCA366086843SYNE1c.767G>C (p.Arg256Pro)
c.24302G>C (p.Arg8101Pro)
c.24089G>C (p.Arg8030Pro)
c.37G>C
c.216G>C
c.74G>C (p.Arg25Pro)
c.23087G>C (p.Arg7696Pro)
n.981G>C
c.3068G>C (p.Arg1023Pro)
n.7994G>C
c.2240G>C (p.Arg747Pro)
n.7886G>C
n.847G>C
n.364G>C
n.1139G>C
c.24338G>C (p.Arg8113Pro)
c.24326G>C (p.Arg8109Pro)
c.24317G>C (p.Arg8106Pro)
c.24287G>C (p.Arg8096Pro)
c.24323G>C (p.Arg8108Pro)
c.24266G>C (p.Arg8089Pro)
c.24197G>C (p.Arg8066Pro)
c.24185G>C (p.Arg8062Pro)
c.24182G>C (p.Arg8061Pro)
c.24179G>C (p.Arg8060Pro)
c.24335G>C (p.Arg8112Pro)
c.24173G>C (p.Arg8058Pro)
c.22613G>C (p.Arg7538Pro)
c.22106G>C (p.Arg7369Pro)
c.17573G>C (p.Arg5858Pro)
c.908G>C (p.Arg303Pro)
c.24311G>C (p.Arg8104Pro)
c.24260G>C (p.Arg8087Pro)
 gnomAD v4
6g.152151969C>TCA4053223SYNE1c.767G>A (p.Arg256His)
c.24302G>A (p.Arg8101His)
c.24089G>A (p.Arg8030His)
c.37G>A
c.216G>A
c.74G>A (p.Arg25His)
c.23087G>A (p.Arg7696His)
n.981G>A
c.3068G>A (p.Arg1023His)
n.7994G>A
c.2240G>A (p.Arg747His)
n.7886G>A
n.847G>A
n.364G>A
n.1139G>A
c.24338G>A (p.Arg8113His)
c.24326G>A (p.Arg8109His)
c.24317G>A (p.Arg8106His)
c.24287G>A (p.Arg8096His)
c.24323G>A (p.Arg8108His)
c.24266G>A (p.Arg8089His)
c.24197G>A (p.Arg8066His)
c.24185G>A (p.Arg8062His)
c.24182G>A (p.Arg8061His)
c.24179G>A (p.Arg8060His)
c.24335G>A (p.Arg8112His)
c.24173G>A (p.Arg8058His)
c.22613G>A (p.Arg7538His)
c.22106G>A (p.Arg7369His)
c.17573G>A (p.Arg5858His)
c.908G>A (p.Arg303His)
c.24311G>A (p.Arg8104His)
c.24260G>A (p.Arg8087His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152151970G>ACA4053224SYNE1c.766C>T (p.Arg256Cys)
c.24301C>T (p.Arg8101Cys)
c.24088C>T (p.Arg8030Cys)
c.36C>T
c.215C>T
c.73C>T (p.Arg25Cys)
c.23086C>T (p.Arg7696Cys)
n.980C>T
c.3067C>T (p.Arg1023Cys)
n.7993C>T
c.2239C>T (p.Arg747Cys)
n.7885C>T
n.846C>T
n.363C>T
n.1138C>T
c.24337C>T (p.Arg8113Cys)
c.24325C>T (p.Arg8109Cys)
c.24316C>T (p.Arg8106Cys)
c.24286C>T (p.Arg8096Cys)
c.24322C>T (p.Arg8108Cys)
c.24265C>T (p.Arg8089Cys)
c.24196C>T (p.Arg8066Cys)
c.24184C>T (p.Arg8062Cys)
c.24181C>T (p.Arg8061Cys)
c.24178C>T (p.Arg8060Cys)
c.24334C>T (p.Arg8112Cys)
c.24172C>T (p.Arg8058Cys)
c.22612C>T (p.Arg7538Cys)
c.22105C>T (p.Arg7369Cys)
c.17572C>T (p.Arg5858Cys)
c.907C>T (p.Arg303Cys)
c.24310C>T (p.Arg8104Cys)
c.24259C>T (p.Arg8087Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151970G>CCA366086844SYNE1c.766C>G (p.Arg256Gly)
c.24301C>G (p.Arg8101Gly)
c.24088C>G (p.Arg8030Gly)
c.36C>G
c.215C>G
c.73C>G (p.Arg25Gly)
c.23086C>G (p.Arg7696Gly)
n.980C>G
c.3067C>G (p.Arg1023Gly)
n.7993C>G
c.2239C>G (p.Arg747Gly)
n.7885C>G
n.846C>G
n.363C>G
n.1138C>G
c.24337C>G (p.Arg8113Gly)
c.24325C>G (p.Arg8109Gly)
c.24316C>G (p.Arg8106Gly)
c.24286C>G (p.Arg8096Gly)
c.24322C>G (p.Arg8108Gly)
c.24265C>G (p.Arg8089Gly)
c.24196C>G (p.Arg8066Gly)
c.24184C>G (p.Arg8062Gly)
c.24181C>G (p.Arg8061Gly)
c.24178C>G (p.Arg8060Gly)
c.24334C>G (p.Arg8112Gly)
c.24172C>G (p.Arg8058Gly)
c.22612C>G (p.Arg7538Gly)
c.22105C>G (p.Arg7369Gly)
c.17572C>G (p.Arg5858Gly)
c.907C>G (p.Arg303Gly)
c.24310C>G (p.Arg8104Gly)
c.24259C>G (p.Arg8087Gly)
6g.152151970G=CA1673186736SYNE1c.766C= (p.Arg256=)
c.24301C= (p.Arg8101=)
c.24088C= (p.Arg8030=)
c.36C=
c.215C=
c.73C= (p.Arg25=)
c.23086C= (p.Arg7696=)
n.980C=
c.3067C= (p.Arg1023=)
n.7993C=
c.2239C= (p.Arg747=)
n.7885C=
n.846C=
n.363C=
n.1138C=
c.24337C= (p.Arg8113=)
c.24325C= (p.Arg8109=)
c.24316C= (p.Arg8106=)
c.24286C= (p.Arg8096=)
c.24322C= (p.Arg8108=)
c.24265C= (p.Arg8089=)
c.24196C= (p.Arg8066=)
c.24184C= (p.Arg8062=)
c.24181C= (p.Arg8061=)
c.24178C= (p.Arg8060=)
c.24334C= (p.Arg8112=)
c.24172C= (p.Arg8058=)
c.22612C= (p.Arg7538=)
c.22105C= (p.Arg7369=)
c.17572C= (p.Arg5858=)
c.907C= (p.Arg303=)
c.24310C= (p.Arg8104=)
c.24259C= (p.Arg8087=)
6g.152151970G>TCA366086845SYNE1c.766C>A (p.Arg256Ser)
c.24301C>A (p.Arg8101Ser)
c.24088C>A (p.Arg8030Ser)
c.36C>A
c.215C>A
c.73C>A (p.Arg25Ser)
c.23086C>A (p.Arg7696Ser)
n.980C>A
c.3067C>A (p.Arg1023Ser)
n.7993C>A
c.2239C>A (p.Arg747Ser)
n.7885C>A
n.846C>A
n.363C>A
n.1138C>A
c.24337C>A (p.Arg8113Ser)
c.24325C>A (p.Arg8109Ser)
c.24316C>A (p.Arg8106Ser)
c.24286C>A (p.Arg8096Ser)
c.24322C>A (p.Arg8108Ser)
c.24265C>A (p.Arg8089Ser)
c.24196C>A (p.Arg8066Ser)
c.24184C>A (p.Arg8062Ser)
c.24181C>A (p.Arg8061Ser)
c.24178C>A (p.Arg8060Ser)
c.24334C>A (p.Arg8112Ser)
c.24172C>A (p.Arg8058Ser)
c.22612C>A (p.Arg7538Ser)
c.22105C>A (p.Arg7369Ser)
c.17572C>A (p.Arg5858Ser)
c.907C>A (p.Arg303Ser)
c.24310C>A (p.Arg8104Ser)
c.24259C>A (p.Arg8087Ser)
6g.152151971C>ACA366086847SYNE1c.765G>T (p.Leu255Phe)
c.24300G>T (p.Leu8100Phe)
c.24087G>T (p.Leu8029Phe)
c.35G>T
c.214G>T
c.72G>T (p.Leu24Phe)
c.23085G>T (p.Leu7695Phe)
n.979G>T
c.3066G>T (p.Leu1022Phe)
n.7992G>T
c.2238G>T (p.Leu746Phe)
n.7884G>T
n.845G>T
n.362G>T
n.1137G>T
c.24336G>T (p.Leu8112Phe)
c.24324G>T (p.Leu8108Phe)
c.24315G>T (p.Leu8105Phe)
c.24285G>T (p.Leu8095Phe)
c.24321G>T (p.Leu8107Phe)
c.24264G>T (p.Leu8088Phe)
c.24195G>T (p.Leu8065Phe)
c.24183G>T (p.Leu8061Phe)
c.24180G>T (p.Leu8060Phe)
c.24177G>T (p.Leu8059Phe)
c.24333G>T (p.Leu8111Phe)
c.24171G>T (p.Leu8057Phe)
c.22611G>T (p.Leu7537Phe)
c.22104G>T (p.Leu7368Phe)
c.17571G>T (p.Leu5857Phe)
c.906G>T (p.Leu302Phe)
c.24309G>T (p.Leu8103Phe)
c.24258G>T (p.Leu8086Phe)
6g.152151971C>GCA366086846SYNE1c.765G>C (p.Leu255Phe)
c.24300G>C (p.Leu8100Phe)
c.24087G>C (p.Leu8029Phe)
c.35G>C
c.214G>C
c.72G>C (p.Leu24Phe)
c.23085G>C (p.Leu7695Phe)
n.979G>C
c.3066G>C (p.Leu1022Phe)
n.7992G>C
c.2238G>C (p.Leu746Phe)
n.7884G>C
n.845G>C
n.362G>C
n.1137G>C
c.24336G>C (p.Leu8112Phe)
c.24324G>C (p.Leu8108Phe)
c.24315G>C (p.Leu8105Phe)
c.24285G>C (p.Leu8095Phe)
c.24321G>C (p.Leu8107Phe)
c.24264G>C (p.Leu8088Phe)
c.24195G>C (p.Leu8065Phe)
c.24183G>C (p.Leu8061Phe)
c.24180G>C (p.Leu8060Phe)
c.24177G>C (p.Leu8059Phe)
c.24333G>C (p.Leu8111Phe)
c.24171G>C (p.Leu8057Phe)
c.22611G>C (p.Leu7537Phe)
c.22104G>C (p.Leu7368Phe)
c.17571G>C (p.Leu5857Phe)
c.906G>C (p.Leu302Phe)
c.24309G>C (p.Leu8103Phe)
c.24258G>C (p.Leu8086Phe)
6g.152151971C>TCA452748200SYNE1c.765G>A (p.Leu255=)
c.24300G>A (p.Leu8100=)
c.24087G>A (p.Leu8029=)
c.35G>A
c.214G>A
c.72G>A (p.Leu24=)
c.23085G>A (p.Leu7695=)
n.979G>A
c.3066G>A (p.Leu1022=)
n.7992G>A
c.2238G>A (p.Leu746=)
n.7884G>A
n.845G>A
n.362G>A
n.1137G>A
c.24336G>A (p.Leu8112=)
c.24324G>A (p.Leu8108=)
c.24315G>A (p.Leu8105=)
c.24285G>A (p.Leu8095=)
c.24321G>A (p.Leu8107=)
c.24264G>A (p.Leu8088=)
c.24195G>A (p.Leu8065=)
c.24183G>A (p.Leu8061=)
c.24180G>A (p.Leu8060=)
c.24177G>A (p.Leu8059=)
c.24333G>A (p.Leu8111=)
c.24171G>A (p.Leu8057=)
c.22611G>A (p.Leu7537=)
c.22104G>A (p.Leu7368=)
c.17571G>A (p.Leu5857=)
c.906G>A (p.Leu302=)
c.24309G>A (p.Leu8103=)
c.24258G>A (p.Leu8086=)
6g.152151972A>CCA366086848SYNE1c.764T>G (p.Leu255Trp)
c.24299T>G (p.Leu8100Trp)
c.24086T>G (p.Leu8029Trp)
c.34T>G
c.213T>G
c.71T>G (p.Leu24Trp)
c.23084T>G (p.Leu7695Trp)
n.978T>G
c.3065T>G (p.Leu1022Trp)
n.7991T>G
c.2237T>G (p.Leu746Trp)
n.7883T>G
n.844T>G
n.361T>G
n.1136T>G
c.24335T>G (p.Leu8112Trp)
c.24323T>G (p.Leu8108Trp)
c.24314T>G (p.Leu8105Trp)
c.24284T>G (p.Leu8095Trp)
c.24320T>G (p.Leu8107Trp)
c.24263T>G (p.Leu8088Trp)
c.24194T>G (p.Leu8065Trp)
c.24182T>G (p.Leu8061Trp)
c.24179T>G (p.Leu8060Trp)
c.24176T>G (p.Leu8059Trp)
c.24332T>G (p.Leu8111Trp)
c.24170T>G (p.Leu8057Trp)
c.22610T>G (p.Leu7537Trp)
c.22103T>G (p.Leu7368Trp)
c.17570T>G (p.Leu5857Trp)
c.905T>G (p.Leu302Trp)
c.24308T>G (p.Leu8103Trp)
c.24257T>G (p.Leu8086Trp)
 gnomAD v4
6g.152151972A>GCA366086849SYNE1c.764T>C (p.Leu255Ser)
c.24299T>C (p.Leu8100Ser)
c.24086T>C (p.Leu8029Ser)
c.34T>C
c.213T>C
c.71T>C (p.Leu24Ser)
c.23084T>C (p.Leu7695Ser)
n.978T>C
c.3065T>C (p.Leu1022Ser)
n.7991T>C
c.2237T>C (p.Leu746Ser)
n.7883T>C
n.844T>C
n.361T>C
n.1136T>C
c.24335T>C (p.Leu8112Ser)
c.24323T>C (p.Leu8108Ser)
c.24314T>C (p.Leu8105Ser)
c.24284T>C (p.Leu8095Ser)
c.24320T>C (p.Leu8107Ser)
c.24263T>C (p.Leu8088Ser)
c.24194T>C (p.Leu8065Ser)
c.24182T>C (p.Leu8061Ser)
c.24179T>C (p.Leu8060Ser)
c.24176T>C (p.Leu8059Ser)
c.24332T>C (p.Leu8111Ser)
c.24170T>C (p.Leu8057Ser)
c.22610T>C (p.Leu7537Ser)
c.22103T>C (p.Leu7368Ser)
c.17570T>C (p.Leu5857Ser)
c.905T>C (p.Leu302Ser)
c.24308T>C (p.Leu8103Ser)
c.24257T>C (p.Leu8086Ser)
6g.152151972A>TCA366086850SYNE1c.764T>A (p.Leu255Ter)
c.24299T>A (p.Leu8100Ter)
c.24086T>A (p.Leu8029Ter)
c.34T>A
c.213T>A
c.71T>A (p.Leu24Ter)
c.23084T>A (p.Leu7695Ter)
n.978T>A
c.3065T>A (p.Leu1022Ter)
n.7991T>A
c.2237T>A (p.Leu746Ter)
n.7883T>A
n.844T>A
n.361T>A
n.1136T>A
c.24335T>A (p.Leu8112Ter)
c.24323T>A (p.Leu8108Ter)
c.24314T>A (p.Leu8105Ter)
c.24284T>A (p.Leu8095Ter)
c.24320T>A (p.Leu8107Ter)
c.24263T>A (p.Leu8088Ter)
c.24194T>A (p.Leu8065Ter)
c.24182T>A (p.Leu8061Ter)
c.24179T>A (p.Leu8060Ter)
c.24176T>A (p.Leu8059Ter)
c.24332T>A (p.Leu8111Ter)
c.24170T>A (p.Leu8057Ter)
c.22610T>A (p.Leu7537Ter)
c.22103T>A (p.Leu7368Ter)
c.17570T>A (p.Leu5857Ter)
c.905T>A (p.Leu302Ter)
c.24308T>A (p.Leu8103Ter)
c.24257T>A (p.Leu8086Ter)
6g.152151973A>CCA366086851SYNE1c.763T>G (p.Leu255Val)
c.24298T>G (p.Leu8100Val)
c.24085T>G (p.Leu8029Val)
c.33T>G
c.212T>G
c.70T>G (p.Leu24Val)
c.23083T>G (p.Leu7695Val)
n.977T>G
c.3064T>G (p.Leu1022Val)
n.7990T>G
c.2236T>G (p.Leu746Val)
n.7882T>G
n.843T>G
n.360T>G
n.1135T>G
c.24334T>G (p.Leu8112Val)
c.24322T>G (p.Leu8108Val)
c.24313T>G (p.Leu8105Val)
c.24283T>G (p.Leu8095Val)
c.24319T>G (p.Leu8107Val)
c.24262T>G (p.Leu8088Val)
c.24193T>G (p.Leu8065Val)
c.24181T>G (p.Leu8061Val)
c.24178T>G (p.Leu8060Val)
c.24175T>G (p.Leu8059Val)
c.24331T>G (p.Leu8111Val)
c.24169T>G (p.Leu8057Val)
c.22609T>G (p.Leu7537Val)
c.22102T>G (p.Leu7368Val)
c.17569T>G (p.Leu5857Val)
c.904T>G (p.Leu302Val)
c.24307T>G (p.Leu8103Val)
c.24256T>G (p.Leu8086Val)
6g.152151973A>GCA452748201SYNE1c.763T>C (p.Leu255=)
c.24298T>C (p.Leu8100=)
c.24085T>C (p.Leu8029=)
c.33T>C
c.212T>C
c.70T>C (p.Leu24=)
c.23083T>C (p.Leu7695=)
n.977T>C
c.3064T>C (p.Leu1022=)
n.7990T>C
c.2236T>C (p.Leu746=)
n.7882T>C
n.843T>C
n.360T>C
n.1135T>C
c.24334T>C (p.Leu8112=)
c.24322T>C (p.Leu8108=)
c.24313T>C (p.Leu8105=)
c.24283T>C (p.Leu8095=)
c.24319T>C (p.Leu8107=)
c.24262T>C (p.Leu8088=)
c.24193T>C (p.Leu8065=)
c.24181T>C (p.Leu8061=)
c.24178T>C (p.Leu8060=)
c.24175T>C (p.Leu8059=)
c.24331T>C (p.Leu8111=)
c.24169T>C (p.Leu8057=)
c.22609T>C (p.Leu7537=)
c.22102T>C (p.Leu7368=)
c.17569T>C (p.Leu5857=)
c.904T>C (p.Leu302=)
c.24307T>C (p.Leu8103=)
c.24256T>C (p.Leu8086=)
6g.152151973A>TCA366086852SYNE1c.763T>A (p.Leu255Met)
c.24298T>A (p.Leu8100Met)
c.24085T>A (p.Leu8029Met)
c.33T>A
c.212T>A
c.70T>A (p.Leu24Met)
c.23083T>A (p.Leu7695Met)
n.977T>A
c.3064T>A (p.Leu1022Met)
n.7990T>A
c.2236T>A (p.Leu746Met)
n.7882T>A
n.843T>A
n.360T>A
n.1135T>A
c.24334T>A (p.Leu8112Met)
c.24322T>A (p.Leu8108Met)
c.24313T>A (p.Leu8105Met)
c.24283T>A (p.Leu8095Met)
c.24319T>A (p.Leu8107Met)
c.24262T>A (p.Leu8088Met)
c.24193T>A (p.Leu8065Met)
c.24181T>A (p.Leu8061Met)
c.24178T>A (p.Leu8060Met)
c.24175T>A (p.Leu8059Met)
c.24331T>A (p.Leu8111Met)
c.24169T>A (p.Leu8057Met)
c.22609T>A (p.Leu7537Met)
c.22102T>A (p.Leu7368Met)
c.17569T>A (p.Leu5857Met)
c.904T>A (p.Leu302Met)
c.24307T>A (p.Leu8103Met)
c.24256T>A (p.Leu8086Met)
6g.152151974G>ACA4053225SYNE1c.762C>T (p.Ile254=)
c.24297C>T (p.Ile8099=)
c.24084C>T (p.Ile8028=)
c.32C>T
c.211C>T
c.69C>T (p.Ile23=)
c.23082C>T (p.Ile7694=)
n.976C>T
c.3063C>T (p.Ile1021=)
n.7989C>T
c.2235C>T (p.Ile745=)
n.7881C>T
n.842C>T
n.359C>T
n.1134C>T
c.24333C>T (p.Ile8111=)
c.24321C>T (p.Ile8107=)
c.24312C>T (p.Ile8104=)
c.24282C>T (p.Ile8094=)
c.24318C>T (p.Ile8106=)
c.24261C>T (p.Ile8087=)
c.24192C>T (p.Ile8064=)
c.24180C>T (p.Ile8060=)
c.24177C>T (p.Ile8059=)
c.24174C>T (p.Ile8058=)
c.24330C>T (p.Ile8110=)
c.24168C>T (p.Ile8056=)
c.22608C>T (p.Ile7536=)
c.22101C>T (p.Ile7367=)
c.17568C>T (p.Ile5856=)
c.903C>T (p.Ile301=)
c.24306C>T (p.Ile8102=)
c.24255C>T (p.Ile8085=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151974G>CCA366086853SYNE1c.762C>G (p.Ile254Met)
c.24297C>G (p.Ile8099Met)
c.24084C>G (p.Ile8028Met)
c.32C>G
c.211C>G
c.69C>G (p.Ile23Met)
c.23082C>G (p.Ile7694Met)
n.976C>G
c.3063C>G (p.Ile1021Met)
n.7989C>G
c.2235C>G (p.Ile745Met)
n.7881C>G
n.842C>G
n.359C>G
n.1134C>G
c.24333C>G (p.Ile8111Met)
c.24321C>G (p.Ile8107Met)
c.24312C>G (p.Ile8104Met)
c.24282C>G (p.Ile8094Met)
c.24318C>G (p.Ile8106Met)
c.24261C>G (p.Ile8087Met)
c.24192C>G (p.Ile8064Met)
c.24180C>G (p.Ile8060Met)
c.24177C>G (p.Ile8059Met)
c.24174C>G (p.Ile8058Met)
c.24330C>G (p.Ile8110Met)
c.24168C>G (p.Ile8056Met)
c.22608C>G (p.Ile7536Met)
c.22101C>G (p.Ile7367Met)
c.17568C>G (p.Ile5856Met)
c.903C>G (p.Ile301Met)
c.24306C>G (p.Ile8102Met)
c.24255C>G (p.Ile8085Met)
 dbSNP
6g.152151974G=CA1673186748SYNE1c.762C= (p.Ile254=)
c.24297C= (p.Ile8099=)
c.24084C= (p.Ile8028=)
c.32C=
c.211C=
c.69C= (p.Ile23=)
c.23082C= (p.Ile7694=)
n.976C=
c.3063C= (p.Ile1021=)
n.7989C=
c.2235C= (p.Ile745=)
n.7881C=
n.842C=
n.359C=
n.1134C=
c.24333C= (p.Ile8111=)
c.24321C= (p.Ile8107=)
c.24312C= (p.Ile8104=)
c.24282C= (p.Ile8094=)
c.24318C= (p.Ile8106=)
c.24261C= (p.Ile8087=)
c.24192C= (p.Ile8064=)
c.24180C= (p.Ile8060=)
c.24177C= (p.Ile8059=)
c.24174C= (p.Ile8058=)
c.24330C= (p.Ile8110=)
c.24168C= (p.Ile8056=)
c.22608C= (p.Ile7536=)
c.22101C= (p.Ile7367=)
c.17568C= (p.Ile5856=)
c.903C= (p.Ile301=)
c.24306C= (p.Ile8102=)
c.24255C= (p.Ile8085=)
6g.152151974G>TCA452748202SYNE1c.762C>A (p.Ile254=)
c.24297C>A (p.Ile8099=)
c.24084C>A (p.Ile8028=)
c.32C>A
c.211C>A
c.69C>A (p.Ile23=)
c.23082C>A (p.Ile7694=)
n.976C>A
c.3063C>A (p.Ile1021=)
n.7989C>A
c.2235C>A (p.Ile745=)
n.7881C>A
n.842C>A
n.359C>A
n.1134C>A
c.24333C>A (p.Ile8111=)
c.24321C>A (p.Ile8107=)
c.24312C>A (p.Ile8104=)
c.24282C>A (p.Ile8094=)
c.24318C>A (p.Ile8106=)
c.24261C>A (p.Ile8087=)
c.24192C>A (p.Ile8064=)
c.24180C>A (p.Ile8060=)
c.24177C>A (p.Ile8059=)
c.24174C>A (p.Ile8058=)
c.24330C>A (p.Ile8110=)
c.24168C>A (p.Ile8056=)
c.22608C>A (p.Ile7536=)
c.22101C>A (p.Ile7367=)
c.17568C>A (p.Ile5856=)
c.903C>A (p.Ile301=)
c.24306C>A (p.Ile8102=)
c.24255C>A (p.Ile8085=)
6g.152151975A>CCA366086854SYNE1c.761T>G (p.Ile254Ser)
c.24296T>G (p.Ile8099Ser)
c.24083T>G (p.Ile8028Ser)
c.31T>G
c.210T>G
c.68T>G (p.Ile23Ser)
c.23081T>G (p.Ile7694Ser)
n.975T>G
c.3062T>G (p.Ile1021Ser)
n.7988T>G
c.2234T>G (p.Ile745Ser)
n.7880T>G
n.841T>G
n.358T>G
n.1133T>G
c.24332T>G (p.Ile8111Ser)
c.24320T>G (p.Ile8107Ser)
c.24311T>G (p.Ile8104Ser)
c.24281T>G (p.Ile8094Ser)
c.24317T>G (p.Ile8106Ser)
c.24260T>G (p.Ile8087Ser)
c.24191T>G (p.Ile8064Ser)
c.24179T>G (p.Ile8060Ser)
c.24176T>G (p.Ile8059Ser)
c.24173T>G (p.Ile8058Ser)
c.24329T>G (p.Ile8110Ser)
c.24167T>G (p.Ile8056Ser)
c.22607T>G (p.Ile7536Ser)
c.22100T>G (p.Ile7367Ser)
c.17567T>G (p.Ile5856Ser)
c.902T>G (p.Ile301Ser)
c.24305T>G (p.Ile8102Ser)
c.24254T>G (p.Ile8085Ser)
6g.152151975A>GCA366086855SYNE1c.761T>C (p.Ile254Thr)
c.24296T>C (p.Ile8099Thr)
c.24083T>C (p.Ile8028Thr)
c.31T>C
c.210T>C
c.68T>C (p.Ile23Thr)
c.23081T>C (p.Ile7694Thr)
n.975T>C
c.3062T>C (p.Ile1021Thr)
n.7988T>C
c.2234T>C (p.Ile745Thr)
n.7880T>C
n.841T>C
n.358T>C
n.1133T>C
c.24332T>C (p.Ile8111Thr)
c.24320T>C (p.Ile8107Thr)
c.24311T>C (p.Ile8104Thr)
c.24281T>C (p.Ile8094Thr)
c.24317T>C (p.Ile8106Thr)
c.24260T>C (p.Ile8087Thr)
c.24191T>C (p.Ile8064Thr)
c.24179T>C (p.Ile8060Thr)
c.24176T>C (p.Ile8059Thr)
c.24173T>C (p.Ile8058Thr)
c.24329T>C (p.Ile8110Thr)
c.24167T>C (p.Ile8056Thr)
c.22607T>C (p.Ile7536Thr)
c.22100T>C (p.Ile7367Thr)
c.17567T>C (p.Ile5856Thr)
c.902T>C (p.Ile301Thr)
c.24305T>C (p.Ile8102Thr)
c.24254T>C (p.Ile8085Thr)
6g.152151975A>TCA366086856SYNE1c.761T>A (p.Ile254Asn)
c.24296T>A (p.Ile8099Asn)
c.24083T>A (p.Ile8028Asn)
c.31T>A
c.210T>A
c.68T>A (p.Ile23Asn)
c.23081T>A (p.Ile7694Asn)
n.975T>A
c.3062T>A (p.Ile1021Asn)
n.7988T>A
c.2234T>A (p.Ile745Asn)
n.7880T>A
n.841T>A
n.358T>A
n.1133T>A
c.24332T>A (p.Ile8111Asn)
c.24320T>A (p.Ile8107Asn)
c.24311T>A (p.Ile8104Asn)
c.24281T>A (p.Ile8094Asn)
c.24317T>A (p.Ile8106Asn)
c.24260T>A (p.Ile8087Asn)
c.24191T>A (p.Ile8064Asn)
c.24179T>A (p.Ile8060Asn)
c.24176T>A (p.Ile8059Asn)
c.24173T>A (p.Ile8058Asn)
c.24329T>A (p.Ile8110Asn)
c.24167T>A (p.Ile8056Asn)
c.22607T>A (p.Ile7536Asn)
c.22100T>A (p.Ile7367Asn)
c.17567T>A (p.Ile5856Asn)
c.902T>A (p.Ile301Asn)
c.24305T>A (p.Ile8102Asn)
c.24254T>A (p.Ile8085Asn)
6g.152151976T>ACA366086857SYNE1c.760A>T (p.Ile254Phe)
c.24295A>T (p.Ile8099Phe)
c.24082A>T (p.Ile8028Phe)
c.30A>T
c.209A>T
c.67A>T (p.Ile23Phe)
c.23080A>T (p.Ile7694Phe)
n.974A>T
c.3061A>T (p.Ile1021Phe)
n.7987A>T
c.2233A>T (p.Ile745Phe)
n.7879A>T
n.840A>T
n.357A>T
n.1132A>T
c.24331A>T (p.Ile8111Phe)
c.24319A>T (p.Ile8107Phe)
c.24310A>T (p.Ile8104Phe)
c.24280A>T (p.Ile8094Phe)
c.24316A>T (p.Ile8106Phe)
c.24259A>T (p.Ile8087Phe)
c.24190A>T (p.Ile8064Phe)
c.24178A>T (p.Ile8060Phe)
c.24175A>T (p.Ile8059Phe)
c.24172A>T (p.Ile8058Phe)
c.24328A>T (p.Ile8110Phe)
c.24166A>T (p.Ile8056Phe)
c.22606A>T (p.Ile7536Phe)
c.22099A>T (p.Ile7367Phe)
c.17566A>T (p.Ile5856Phe)
c.901A>T (p.Ile301Phe)
c.24304A>T (p.Ile8102Phe)
c.24253A>T (p.Ile8085Phe)
6g.152151976T>CCA366086858SYNE1c.760A>G (p.Ile254Val)
c.24295A>G (p.Ile8099Val)
c.24082A>G (p.Ile8028Val)
c.30A>G
c.209A>G
c.67A>G (p.Ile23Val)
c.23080A>G (p.Ile7694Val)
n.974A>G
c.3061A>G (p.Ile1021Val)
n.7987A>G
c.2233A>G (p.Ile745Val)
n.7879A>G
n.840A>G
n.357A>G
n.1132A>G
c.24331A>G (p.Ile8111Val)
c.24319A>G (p.Ile8107Val)
c.24310A>G (p.Ile8104Val)
c.24280A>G (p.Ile8094Val)
c.24316A>G (p.Ile8106Val)
c.24259A>G (p.Ile8087Val)
c.24190A>G (p.Ile8064Val)
c.24178A>G (p.Ile8060Val)
c.24175A>G (p.Ile8059Val)
c.24172A>G (p.Ile8058Val)
c.24328A>G (p.Ile8110Val)
c.24166A>G (p.Ile8056Val)
c.22606A>G (p.Ile7536Val)
c.22099A>G (p.Ile7367Val)
c.17566A>G (p.Ile5856Val)
c.901A>G (p.Ile301Val)
c.24304A>G (p.Ile8102Val)
c.24253A>G (p.Ile8085Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152151976T>GCA366086859SYNE1c.760A>C (p.Ile254Leu)
c.24295A>C (p.Ile8099Leu)
c.24082A>C (p.Ile8028Leu)
c.30A>C
c.209A>C
c.67A>C (p.Ile23Leu)
c.23080A>C (p.Ile7694Leu)
n.974A>C
c.3061A>C (p.Ile1021Leu)
n.7987A>C
c.2233A>C (p.Ile745Leu)
n.7879A>C
n.840A>C
n.357A>C
n.1132A>C
c.24331A>C (p.Ile8111Leu)
c.24319A>C (p.Ile8107Leu)
c.24310A>C (p.Ile8104Leu)
c.24280A>C (p.Ile8094Leu)
c.24316A>C (p.Ile8106Leu)
c.24259A>C (p.Ile8087Leu)
c.24190A>C (p.Ile8064Leu)
c.24178A>C (p.Ile8060Leu)
c.24175A>C (p.Ile8059Leu)
c.24172A>C (p.Ile8058Leu)
c.24328A>C (p.Ile8110Leu)
c.24166A>C (p.Ile8056Leu)
c.22606A>C (p.Ile7536Leu)
c.22099A>C (p.Ile7367Leu)
c.17566A>C (p.Ile5856Leu)
c.901A>C (p.Ile301Leu)
c.24304A>C (p.Ile8102Leu)
c.24253A>C (p.Ile8085Leu)
6g.152151976T=CA1673186760SYNE1c.760A= (p.Ile254=)
c.24295A= (p.Ile8099=)
c.24082A= (p.Ile8028=)
c.30A=
c.209A=
c.67A= (p.Ile23=)
c.23080A= (p.Ile7694=)
n.974A=
c.3061A= (p.Ile1021=)
n.7987A=
c.2233A= (p.Ile745=)
n.7879A=
n.840A=
n.357A=
n.1132A=
c.24331A= (p.Ile8111=)
c.24319A= (p.Ile8107=)
c.24310A= (p.Ile8104=)
c.24280A= (p.Ile8094=)
c.24316A= (p.Ile8106=)
c.24259A= (p.Ile8087=)
c.24190A= (p.Ile8064=)
c.24178A= (p.Ile8060=)
c.24175A= (p.Ile8059=)
c.24172A= (p.Ile8058=)
c.24328A= (p.Ile8110=)
c.24166A= (p.Ile8056=)
c.22606A= (p.Ile7536=)
c.22099A= (p.Ile7367=)
c.17566A= (p.Ile5856=)
c.901A= (p.Ile301=)
c.24304A= (p.Ile8102=)
c.24253A= (p.Ile8085=)
6g.152151977G>ACA452748207SYNE1c.759C>T (p.Ser253=)
c.24294C>T (p.Ser8098=)
c.24081C>T (p.Ser8027=)
c.29C>T
c.208C>T
c.66C>T (p.Ser22=)
c.23079C>T (p.Ser7693=)
n.973C>T
c.3060C>T (p.Ser1020=)
n.7986C>T
c.2232C>T (p.Ser744=)
n.7878C>T
n.839C>T
n.356C>T
n.1131C>T
c.24330C>T (p.Ser8110=)
c.24318C>T (p.Ser8106=)
c.24309C>T (p.Ser8103=)
c.24279C>T (p.Ser8093=)
c.24315C>T (p.Ser8105=)
c.24258C>T (p.Ser8086=)
c.24189C>T (p.Ser8063=)
c.24177C>T (p.Ser8059=)
c.24174C>T (p.Ser8058=)
c.24171C>T (p.Ser8057=)
c.24327C>T (p.Ser8109=)
c.24165C>T (p.Ser8055=)
c.22605C>T (p.Ser7535=)
c.22098C>T (p.Ser7366=)
c.17565C>T (p.Ser5855=)
c.900C>T (p.Ser300=)
c.24303C>T (p.Ser8101=)
c.24252C>T (p.Ser8084=)
6g.152151977G>CCA452748204SYNE1c.759C>G (p.Ser253=)
c.24294C>G (p.Ser8098=)
c.24081C>G (p.Ser8027=)
c.29C>G
c.208C>G
c.66C>G (p.Ser22=)
c.23079C>G (p.Ser7693=)
n.973C>G
c.3060C>G (p.Ser1020=)
n.7986C>G
c.2232C>G (p.Ser744=)
n.7878C>G
n.839C>G
n.356C>G
n.1131C>G
c.24330C>G (p.Ser8110=)
c.24318C>G (p.Ser8106=)
c.24309C>G (p.Ser8103=)
c.24279C>G (p.Ser8093=)
c.24315C>G (p.Ser8105=)
c.24258C>G (p.Ser8086=)
c.24189C>G (p.Ser8063=)
c.24177C>G (p.Ser8059=)
c.24174C>G (p.Ser8058=)
c.24171C>G (p.Ser8057=)
c.24327C>G (p.Ser8109=)
c.24165C>G (p.Ser8055=)
c.22605C>G (p.Ser7535=)
c.22098C>G (p.Ser7366=)
c.17565C>G (p.Ser5855=)
c.900C>G (p.Ser300=)
c.24303C>G (p.Ser8101=)
c.24252C>G (p.Ser8084=)
6g.152151977G>TCA452748206SYNE1c.759C>A (p.Ser253=)
c.24294C>A (p.Ser8098=)
c.24081C>A (p.Ser8027=)
c.29C>A
c.208C>A
c.66C>A (p.Ser22=)
c.23079C>A (p.Ser7693=)
n.973C>A
c.3060C>A (p.Ser1020=)
n.7986C>A
c.2232C>A (p.Ser744=)
n.7878C>A
n.839C>A
n.356C>A
n.1131C>A
c.24330C>A (p.Ser8110=)
c.24318C>A (p.Ser8106=)
c.24309C>A (p.Ser8103=)
c.24279C>A (p.Ser8093=)
c.24315C>A (p.Ser8105=)
c.24258C>A (p.Ser8086=)
c.24189C>A (p.Ser8063=)
c.24177C>A (p.Ser8059=)
c.24174C>A (p.Ser8058=)
c.24171C>A (p.Ser8057=)
c.24327C>A (p.Ser8109=)
c.24165C>A (p.Ser8055=)
c.22605C>A (p.Ser7535=)
c.22098C>A (p.Ser7366=)
c.17565C>A (p.Ser5855=)
c.900C>A (p.Ser300=)
c.24303C>A (p.Ser8101=)
c.24252C>A (p.Ser8084=)
6g.152151978G>ACA366086862SYNE1c.758C>T (p.Ser253Phe)
c.24293C>T (p.Ser8098Phe)
c.24080C>T (p.Ser8027Phe)
c.28C>T
c.207C>T
c.65C>T (p.Ser22Phe)
c.23078C>T (p.Ser7693Phe)
n.972C>T
c.3059C>T (p.Ser1020Phe)
n.7985C>T
c.2231C>T (p.Ser744Phe)
n.7877C>T
n.838C>T
n.355C>T
n.1130C>T
c.24329C>T (p.Ser8110Phe)
c.24317C>T (p.Ser8106Phe)
c.24308C>T (p.Ser8103Phe)
c.24278C>T (p.Ser8093Phe)
c.24314C>T (p.Ser8105Phe)
c.24257C>T (p.Ser8086Phe)
c.24188C>T (p.Ser8063Phe)
c.24176C>T (p.Ser8059Phe)
c.24173C>T (p.Ser8058Phe)
c.24170C>T (p.Ser8057Phe)
c.24326C>T (p.Ser8109Phe)
c.24164C>T (p.Ser8055Phe)
c.22604C>T (p.Ser7535Phe)
c.22097C>T (p.Ser7366Phe)
c.17564C>T (p.Ser5855Phe)
c.899C>T (p.Ser300Phe)
c.24302C>T (p.Ser8101Phe)
c.24251C>T (p.Ser8084Phe)
6g.152151978G>CCA366086861SYNE1c.758C>G (p.Ser253Cys)
c.24293C>G (p.Ser8098Cys)
c.24080C>G (p.Ser8027Cys)
c.28C>G
c.207C>G
c.65C>G (p.Ser22Cys)
c.23078C>G (p.Ser7693Cys)
n.972C>G
c.3059C>G (p.Ser1020Cys)
n.7985C>G
c.2231C>G (p.Ser744Cys)
n.7877C>G
n.838C>G
n.355C>G
n.1130C>G
c.24329C>G (p.Ser8110Cys)
c.24317C>G (p.Ser8106Cys)
c.24308C>G (p.Ser8103Cys)
c.24278C>G (p.Ser8093Cys)
c.24314C>G (p.Ser8105Cys)
c.24257C>G (p.Ser8086Cys)
c.24188C>G (p.Ser8063Cys)
c.24176C>G (p.Ser8059Cys)
c.24173C>G (p.Ser8058Cys)
c.24170C>G (p.Ser8057Cys)
c.24326C>G (p.Ser8109Cys)
c.24164C>G (p.Ser8055Cys)
c.22604C>G (p.Ser7535Cys)
c.22097C>G (p.Ser7366Cys)
c.17564C>G (p.Ser5855Cys)
c.899C>G (p.Ser300Cys)
c.24302C>G (p.Ser8101Cys)
c.24251C>G (p.Ser8084Cys)
6g.152151978G>TCA366086860SYNE1c.758C>A (p.Ser253Tyr)
c.24293C>A (p.Ser8098Tyr)
c.24080C>A (p.Ser8027Tyr)
c.28C>A
c.207C>A
c.65C>A (p.Ser22Tyr)
c.23078C>A (p.Ser7693Tyr)
n.972C>A
c.3059C>A (p.Ser1020Tyr)
n.7985C>A
c.2231C>A (p.Ser744Tyr)
n.7877C>A
n.838C>A
n.355C>A
n.1130C>A
c.24329C>A (p.Ser8110Tyr)
c.24317C>A (p.Ser8106Tyr)
c.24308C>A (p.Ser8103Tyr)
c.24278C>A (p.Ser8093Tyr)
c.24314C>A (p.Ser8105Tyr)
c.24257C>A (p.Ser8086Tyr)
c.24188C>A (p.Ser8063Tyr)
c.24176C>A (p.Ser8059Tyr)
c.24173C>A (p.Ser8058Tyr)
c.24170C>A (p.Ser8057Tyr)
c.24326C>A (p.Ser8109Tyr)
c.24164C>A (p.Ser8055Tyr)
c.22604C>A (p.Ser7535Tyr)
c.22097C>A (p.Ser7366Tyr)
c.17564C>A (p.Ser5855Tyr)
c.899C>A (p.Ser300Tyr)
c.24302C>A (p.Ser8101Tyr)
c.24251C>A (p.Ser8084Tyr)
6g.152151979A>CCA366086863SYNE1c.757T>G (p.Ser253Ala)
c.24292T>G (p.Ser8098Ala)
c.24079T>G (p.Ser8027Ala)
c.27T>G
c.206T>G
c.64T>G (p.Ser22Ala)
c.23077T>G (p.Ser7693Ala)
n.971T>G
c.3058T>G (p.Ser1020Ala)
n.7984T>G
c.2230T>G (p.Ser744Ala)
n.7876T>G
n.837T>G
n.354T>G
n.1129T>G
c.24328T>G (p.Ser8110Ala)
c.24316T>G (p.Ser8106Ala)
c.24307T>G (p.Ser8103Ala)
c.24277T>G (p.Ser8093Ala)
c.24313T>G (p.Ser8105Ala)
c.24256T>G (p.Ser8086Ala)
c.24187T>G (p.Ser8063Ala)
c.24175T>G (p.Ser8059Ala)
c.24172T>G (p.Ser8058Ala)
c.24169T>G (p.Ser8057Ala)
c.24325T>G (p.Ser8109Ala)
c.24163T>G (p.Ser8055Ala)
c.22603T>G (p.Ser7535Ala)
c.22096T>G (p.Ser7366Ala)
c.17563T>G (p.Ser5855Ala)
c.898T>G (p.Ser300Ala)
c.24301T>G (p.Ser8101Ala)
c.24250T>G (p.Ser8084Ala)
6g.152151979A>GCA366086864SYNE1c.757T>C (p.Ser253Pro)
c.24292T>C (p.Ser8098Pro)
c.24079T>C (p.Ser8027Pro)
c.27T>C
c.206T>C
c.64T>C (p.Ser22Pro)
c.23077T>C (p.Ser7693Pro)
n.971T>C
c.3058T>C (p.Ser1020Pro)
n.7984T>C
c.2230T>C (p.Ser744Pro)
n.7876T>C
n.837T>C
n.354T>C
n.1129T>C
c.24328T>C (p.Ser8110Pro)
c.24316T>C (p.Ser8106Pro)
c.24307T>C (p.Ser8103Pro)
c.24277T>C (p.Ser8093Pro)
c.24313T>C (p.Ser8105Pro)
c.24256T>C (p.Ser8086Pro)
c.24187T>C (p.Ser8063Pro)
c.24175T>C (p.Ser8059Pro)
c.24172T>C (p.Ser8058Pro)
c.24169T>C (p.Ser8057Pro)
c.24325T>C (p.Ser8109Pro)
c.24163T>C (p.Ser8055Pro)
c.22603T>C (p.Ser7535Pro)
c.22096T>C (p.Ser7366Pro)
c.17563T>C (p.Ser5855Pro)
c.898T>C (p.Ser300Pro)
c.24301T>C (p.Ser8101Pro)
c.24250T>C (p.Ser8084Pro)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152151979A>TCA366086865SYNE1c.757T>A (p.Ser253Thr)
c.24292T>A (p.Ser8098Thr)
c.24079T>A (p.Ser8027Thr)
c.27T>A
c.206T>A
c.64T>A (p.Ser22Thr)
c.23077T>A (p.Ser7693Thr)
n.971T>A
c.3058T>A (p.Ser1020Thr)
n.7984T>A
c.2230T>A (p.Ser744Thr)
n.7876T>A
n.837T>A
n.354T>A
n.1129T>A
c.24328T>A (p.Ser8110Thr)
c.24316T>A (p.Ser8106Thr)
c.24307T>A (p.Ser8103Thr)
c.24277T>A (p.Ser8093Thr)
c.24313T>A (p.Ser8105Thr)
c.24256T>A (p.Ser8086Thr)
c.24187T>A (p.Ser8063Thr)
c.24175T>A (p.Ser8059Thr)
c.24172T>A (p.Ser8058Thr)
c.24169T>A (p.Ser8057Thr)
c.24325T>A (p.Ser8109Thr)
c.24163T>A (p.Ser8055Thr)
c.22603T>A (p.Ser7535Thr)
c.22096T>A (p.Ser7366Thr)
c.17563T>A (p.Ser5855Thr)
c.898T>A (p.Ser300Thr)
c.24301T>A (p.Ser8101Thr)
c.24250T>A (p.Ser8084Thr)
6g.152151980G>ACA452748208SYNE1c.756C>T (p.Thr252=)
c.24291C>T (p.Thr8097=)
c.24078C>T (p.Thr8026=)
c.26C>T
c.205C>T
c.63C>T (p.Thr21=)
c.23076C>T (p.Thr7692=)
n.970C>T
c.3057C>T (p.Thr1019=)
n.7983C>T
c.2229C>T (p.Thr743=)
n.7875C>T
n.836C>T
n.353C>T
n.1128C>T
c.24327C>T (p.Thr8109=)
c.24315C>T (p.Thr8105=)
c.24306C>T (p.Thr8102=)
c.24276C>T (p.Thr8092=)
c.24312C>T (p.Thr8104=)
c.24255C>T (p.Thr8085=)
c.24186C>T (p.Thr8062=)
c.24174C>T (p.Thr8058=)
c.24171C>T (p.Thr8057=)
c.24168C>T (p.Thr8056=)
c.24324C>T (p.Thr8108=)
c.24162C>T (p.Thr8054=)
c.22602C>T (p.Thr7534=)
c.22095C>T (p.Thr7365=)
c.17562C>T (p.Thr5854=)
c.897C>T (p.Thr299=)
c.24300C>T (p.Thr8100=)
c.24249C>T (p.Thr8083=)
 gnomAD v4
6g.152151980G>CCA452748209SYNE1c.756C>G (p.Thr252=)
c.24291C>G (p.Thr8097=)
c.24078C>G (p.Thr8026=)
c.26C>G
c.205C>G
c.63C>G (p.Thr21=)
c.23076C>G (p.Thr7692=)
n.970C>G
c.3057C>G (p.Thr1019=)
n.7983C>G
c.2229C>G (p.Thr743=)
n.7875C>G
n.836C>G
n.353C>G
n.1128C>G
c.24327C>G (p.Thr8109=)
c.24315C>G (p.Thr8105=)
c.24306C>G (p.Thr8102=)
c.24276C>G (p.Thr8092=)
c.24312C>G (p.Thr8104=)
c.24255C>G (p.Thr8085=)
c.24186C>G (p.Thr8062=)
c.24174C>G (p.Thr8058=)
c.24171C>G (p.Thr8057=)
c.24168C>G (p.Thr8056=)
c.24324C>G (p.Thr8108=)
c.24162C>G (p.Thr8054=)
c.22602C>G (p.Thr7534=)
c.22095C>G (p.Thr7365=)
c.17562C>G (p.Thr5854=)
c.897C>G (p.Thr299=)
c.24300C>G (p.Thr8100=)
c.24249C>G (p.Thr8083=)
 ClinVar dbSNP
6g.152151980G=CA1673186767SYNE1c.756C= (p.Thr252=)
c.24291C= (p.Thr8097=)
c.24078C= (p.Thr8026=)
c.26C=
c.205C=
c.63C= (p.Thr21=)
c.23076C= (p.Thr7692=)
n.970C=
c.3057C= (p.Thr1019=)
n.7983C=
c.2229C= (p.Thr743=)
n.7875C=
n.836C=
n.353C=
n.1128C=
c.24327C= (p.Thr8109=)
c.24315C= (p.Thr8105=)
c.24306C= (p.Thr8102=)
c.24276C= (p.Thr8092=)
c.24312C= (p.Thr8104=)
c.24255C= (p.Thr8085=)
c.24186C= (p.Thr8062=)
c.24174C= (p.Thr8058=)
c.24171C= (p.Thr8057=)
c.24168C= (p.Thr8056=)
c.24324C= (p.Thr8108=)
c.24162C= (p.Thr8054=)
c.22602C= (p.Thr7534=)
c.22095C= (p.Thr7365=)
c.17562C= (p.Thr5854=)
c.897C= (p.Thr299=)
c.24300C= (p.Thr8100=)
c.24249C= (p.Thr8083=)
6g.152151980G>TCA452748210SYNE1c.756C>A (p.Thr252=)
c.24291C>A (p.Thr8097=)
c.24078C>A (p.Thr8026=)
c.26C>A
c.205C>A
c.63C>A (p.Thr21=)
c.23076C>A (p.Thr7692=)
n.970C>A
c.3057C>A (p.Thr1019=)
n.7983C>A
c.2229C>A (p.Thr743=)
n.7875C>A
n.836C>A
n.353C>A
n.1128C>A
c.24327C>A (p.Thr8109=)
c.24315C>A (p.Thr8105=)
c.24306C>A (p.Thr8102=)
c.24276C>A (p.Thr8092=)
c.24312C>A (p.Thr8104=)
c.24255C>A (p.Thr8085=)
c.24186C>A (p.Thr8062=)
c.24174C>A (p.Thr8058=)
c.24171C>A (p.Thr8057=)
c.24168C>A (p.Thr8056=)
c.24324C>A (p.Thr8108=)
c.24162C>A (p.Thr8054=)
c.22602C>A (p.Thr7534=)
c.22095C>A (p.Thr7365=)
c.17562C>A (p.Thr5854=)
c.897C>A (p.Thr299=)
c.24300C>A (p.Thr8100=)
c.24249C>A (p.Thr8083=)
6g.152151981G>ACA366086866SYNE1c.755C>T (p.Thr252Ile)
c.24290C>T (p.Thr8097Ile)
c.24077C>T (p.Thr8026Ile)
c.25C>T
c.204C>T
c.62C>T (p.Thr21Ile)
c.23075C>T (p.Thr7692Ile)
n.969C>T
c.3056C>T (p.Thr1019Ile)
n.7982C>T
c.2228C>T (p.Thr743Ile)
n.7874C>T
n.835C>T
n.352C>T
n.1127C>T
c.24326C>T (p.Thr8109Ile)
c.24314C>T (p.Thr8105Ile)
c.24305C>T (p.Thr8102Ile)
c.24275C>T (p.Thr8092Ile)
c.24311C>T (p.Thr8104Ile)
c.24254C>T (p.Thr8085Ile)
c.24185C>T (p.Thr8062Ile)
c.24173C>T (p.Thr8058Ile)
c.24170C>T (p.Thr8057Ile)
c.24167C>T (p.Thr8056Ile)
c.24323C>T (p.Thr8108Ile)
c.24161C>T (p.Thr8054Ile)
c.22601C>T (p.Thr7534Ile)
c.22094C>T (p.Thr7365Ile)
c.17561C>T (p.Thr5854Ile)
c.896C>T (p.Thr299Ile)
c.24299C>T (p.Thr8100Ile)
c.24248C>T (p.Thr8083Ile)
 gnomAD v4
6g.152151981G>CCA366086867SYNE1c.755C>G (p.Thr252Ser)
c.24290C>G (p.Thr8097Ser)
c.24077C>G (p.Thr8026Ser)
c.25C>G
c.204C>G
c.62C>G (p.Thr21Ser)
c.23075C>G (p.Thr7692Ser)
n.969C>G
c.3056C>G (p.Thr1019Ser)
n.7982C>G
c.2228C>G (p.Thr743Ser)
n.7874C>G
n.835C>G
n.352C>G
n.1127C>G
c.24326C>G (p.Thr8109Ser)
c.24314C>G (p.Thr8105Ser)
c.24305C>G (p.Thr8102Ser)
c.24275C>G (p.Thr8092Ser)
c.24311C>G (p.Thr8104Ser)
c.24254C>G (p.Thr8085Ser)
c.24185C>G (p.Thr8062Ser)
c.24173C>G (p.Thr8058Ser)
c.24170C>G (p.Thr8057Ser)
c.24167C>G (p.Thr8056Ser)
c.24323C>G (p.Thr8108Ser)
c.24161C>G (p.Thr8054Ser)
c.22601C>G (p.Thr7534Ser)
c.22094C>G (p.Thr7365Ser)
c.17561C>G (p.Thr5854Ser)
c.896C>G (p.Thr299Ser)
c.24299C>G (p.Thr8100Ser)
c.24248C>G (p.Thr8083Ser)
6g.152151981G>TCA366086868SYNE1c.755C>A (p.Thr252Asn)
c.24290C>A (p.Thr8097Asn)
c.24077C>A (p.Thr8026Asn)
c.25C>A
c.204C>A
c.62C>A (p.Thr21Asn)
c.23075C>A (p.Thr7692Asn)
n.969C>A
c.3056C>A (p.Thr1019Asn)
n.7982C>A
c.2228C>A (p.Thr743Asn)
n.7874C>A
n.835C>A
n.352C>A
n.1127C>A
c.24326C>A (p.Thr8109Asn)
c.24314C>A (p.Thr8105Asn)
c.24305C>A (p.Thr8102Asn)
c.24275C>A (p.Thr8092Asn)
c.24311C>A (p.Thr8104Asn)
c.24254C>A (p.Thr8085Asn)
c.24185C>A (p.Thr8062Asn)
c.24173C>A (p.Thr8058Asn)
c.24170C>A (p.Thr8057Asn)
c.24167C>A (p.Thr8056Asn)
c.24323C>A (p.Thr8108Asn)
c.24161C>A (p.Thr8054Asn)
c.22601C>A (p.Thr7534Asn)
c.22094C>A (p.Thr7365Asn)
c.17561C>A (p.Thr5854Asn)
c.896C>A (p.Thr299Asn)
c.24299C>A (p.Thr8100Asn)
c.24248C>A (p.Thr8083Asn)
 gnomAD v4
6g.152151982T>ACA366086870SYNE1c.754A>T (p.Thr252Ser)
c.24289A>T (p.Thr8097Ser)
c.24076A>T (p.Thr8026Ser)
c.24A>T
c.203A>T
c.61A>T (p.Thr21Ser)
c.23074A>T (p.Thr7692Ser)
n.968A>T
c.3055A>T (p.Thr1019Ser)
n.7981A>T
c.2227A>T (p.Thr743Ser)
n.7873A>T
n.834A>T
n.351A>T
n.1126A>T
c.24325A>T (p.Thr8109Ser)
c.24313A>T (p.Thr8105Ser)
c.24304A>T (p.Thr8102Ser)
c.24274A>T (p.Thr8092Ser)
c.24310A>T (p.Thr8104Ser)
c.24253A>T (p.Thr8085Ser)
c.24184A>T (p.Thr8062Ser)
c.24172A>T (p.Thr8058Ser)
c.24169A>T (p.Thr8057Ser)
c.24166A>T (p.Thr8056Ser)
c.24322A>T (p.Thr8108Ser)
c.24160A>T (p.Thr8054Ser)
c.22600A>T (p.Thr7534Ser)
c.22093A>T (p.Thr7365Ser)
c.17560A>T (p.Thr5854Ser)
c.895A>T (p.Thr299Ser)
c.24298A>T (p.Thr8100Ser)
c.24247A>T (p.Thr8083Ser)
6g.152151982T>CCA4053226SYNE1c.754A>G (p.Thr252Ala)
c.24289A>G (p.Thr8097Ala)
c.24076A>G (p.Thr8026Ala)
c.24A>G
c.203A>G
c.61A>G (p.Thr21Ala)
c.23074A>G (p.Thr7692Ala)
n.968A>G
c.3055A>G (p.Thr1019Ala)
n.7981A>G
c.2227A>G (p.Thr743Ala)
n.7873A>G
n.834A>G
n.351A>G
n.1126A>G
c.24325A>G (p.Thr8109Ala)
c.24313A>G (p.Thr8105Ala)
c.24304A>G (p.Thr8102Ala)
c.24274A>G (p.Thr8092Ala)
c.24310A>G (p.Thr8104Ala)
c.24253A>G (p.Thr8085Ala)
c.24184A>G (p.Thr8062Ala)
c.24172A>G (p.Thr8058Ala)
c.24169A>G (p.Thr8057Ala)
c.24166A>G (p.Thr8056Ala)
c.24322A>G (p.Thr8108Ala)
c.24160A>G (p.Thr8054Ala)
c.22600A>G (p.Thr7534Ala)
c.22093A>G (p.Thr7365Ala)
c.17560A>G (p.Thr5854Ala)
c.895A>G (p.Thr299Ala)
c.24298A>G (p.Thr8100Ala)
c.24247A>G (p.Thr8083Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151982T>GCA366086869SYNE1c.754A>C (p.Thr252Pro)
c.24289A>C (p.Thr8097Pro)
c.24076A>C (p.Thr8026Pro)
c.24A>C
c.203A>C
c.61A>C (p.Thr21Pro)
c.23074A>C (p.Thr7692Pro)
n.968A>C
c.3055A>C (p.Thr1019Pro)
n.7981A>C
c.2227A>C (p.Thr743Pro)
n.7873A>C
n.834A>C
n.351A>C
n.1126A>C
c.24325A>C (p.Thr8109Pro)
c.24313A>C (p.Thr8105Pro)
c.24304A>C (p.Thr8102Pro)
c.24274A>C (p.Thr8092Pro)
c.24310A>C (p.Thr8104Pro)
c.24253A>C (p.Thr8085Pro)
c.24184A>C (p.Thr8062Pro)
c.24172A>C (p.Thr8058Pro)
c.24169A>C (p.Thr8057Pro)
c.24166A>C (p.Thr8056Pro)
c.24322A>C (p.Thr8108Pro)
c.24160A>C (p.Thr8054Pro)
c.22600A>C (p.Thr7534Pro)
c.22093A>C (p.Thr7365Pro)
c.17560A>C (p.Thr5854Pro)
c.895A>C (p.Thr299Pro)
c.24298A>C (p.Thr8100Pro)
c.24247A>C (p.Thr8083Pro)
 gnomAD v4
6g.152151982T=CA1673186778SYNE1c.754A= (p.Thr252=)
c.24289A= (p.Thr8097=)
c.24076A= (p.Thr8026=)
c.24A=
c.203A=
c.61A= (p.Thr21=)
c.23074A= (p.Thr7692=)
n.968A=
c.3055A= (p.Thr1019=)
n.7981A=
c.2227A= (p.Thr743=)
n.7873A=
n.834A=
n.351A=
n.1126A=
c.24325A= (p.Thr8109=)
c.24313A= (p.Thr8105=)
c.24304A= (p.Thr8102=)
c.24274A= (p.Thr8092=)
c.24310A= (p.Thr8104=)
c.24253A= (p.Thr8085=)
c.24184A= (p.Thr8062=)
c.24172A= (p.Thr8058=)
c.24169A= (p.Thr8057=)
c.24166A= (p.Thr8056=)
c.24322A= (p.Thr8108=)
c.24160A= (p.Thr8054=)
c.22600A= (p.Thr7534=)
c.22093A= (p.Thr7365=)
c.17560A= (p.Thr5854=)
c.895A= (p.Thr299=)
c.24298A= (p.Thr8100=)
c.24247A= (p.Thr8083=)
6g.152151983G>ACA452748214SYNE1c.753C>T (p.Val251=)
c.24288C>T (p.Val8096=)
c.24075C>T (p.Val8025=)
c.23C>T
c.202C>T
c.60C>T (p.Val20=)
c.23073C>T (p.Val7691=)
n.967C>T
c.3054C>T (p.Val1018=)
n.7980C>T
c.2226C>T (p.Val742=)
n.7872C>T
n.833C>T
n.350C>T
n.1125C>T
c.24324C>T (p.Val8108=)
c.24312C>T (p.Val8104=)
c.24303C>T (p.Val8101=)
c.24273C>T (p.Val8091=)
c.24309C>T (p.Val8103=)
c.24252C>T (p.Val8084=)
c.24183C>T (p.Val8061=)
c.24171C>T (p.Val8057=)
c.24168C>T (p.Val8056=)
c.24165C>T (p.Val8055=)
c.24321C>T (p.Val8107=)
c.24159C>T (p.Val8053=)
c.22599C>T (p.Val7533=)
c.22092C>T (p.Val7364=)
c.17559C>T (p.Val5853=)
c.894C>T (p.Val298=)
c.24297C>T (p.Val8099=)
c.24246C>T (p.Val8082=)
6g.152151983G>CCA452748213SYNE1c.753C>G (p.Val251=)
c.24288C>G (p.Val8096=)
c.24075C>G (p.Val8025=)
c.23C>G
c.202C>G
c.60C>G (p.Val20=)
c.23073C>G (p.Val7691=)
n.967C>G
c.3054C>G (p.Val1018=)
n.7980C>G
c.2226C>G (p.Val742=)
n.7872C>G
n.833C>G
n.350C>G
n.1125C>G
c.24324C>G (p.Val8108=)
c.24312C>G (p.Val8104=)
c.24303C>G (p.Val8101=)
c.24273C>G (p.Val8091=)
c.24309C>G (p.Val8103=)
c.24252C>G (p.Val8084=)
c.24183C>G (p.Val8061=)
c.24171C>G (p.Val8057=)
c.24168C>G (p.Val8056=)
c.24165C>G (p.Val8055=)
c.24321C>G (p.Val8107=)
c.24159C>G (p.Val8053=)
c.22599C>G (p.Val7533=)
c.22092C>G (p.Val7364=)
c.17559C>G (p.Val5853=)
c.894C>G (p.Val298=)
c.24297C>G (p.Val8099=)
c.24246C>G (p.Val8082=)
6g.152151983G>TCA452748215SYNE1c.753C>A (p.Val251=)
c.24288C>A (p.Val8096=)
c.24075C>A (p.Val8025=)
c.23C>A
c.202C>A
c.60C>A (p.Val20=)
c.23073C>A (p.Val7691=)
n.967C>A
c.3054C>A (p.Val1018=)
n.7980C>A
c.2226C>A (p.Val742=)
n.7872C>A
n.833C>A
n.350C>A
n.1125C>A
c.24324C>A (p.Val8108=)
c.24312C>A (p.Val8104=)
c.24303C>A (p.Val8101=)
c.24273C>A (p.Val8091=)
c.24309C>A (p.Val8103=)
c.24252C>A (p.Val8084=)
c.24183C>A (p.Val8061=)
c.24171C>A (p.Val8057=)
c.24168C>A (p.Val8056=)
c.24165C>A (p.Val8055=)
c.24321C>A (p.Val8107=)
c.24159C>A (p.Val8053=)
c.22599C>A (p.Val7533=)
c.22092C>A (p.Val7364=)
c.17559C>A (p.Val5853=)
c.894C>A (p.Val298=)
c.24297C>A (p.Val8099=)
c.24246C>A (p.Val8082=)
6g.152151984A=CA1673186780SYNE1c.752T= (p.Val251=)
c.24287T= (p.Val8096=)
c.24074T= (p.Val8025=)
c.22T=
c.201T=
c.59T= (p.Val20=)
c.23072T= (p.Val7691=)
n.966T=
c.3053T= (p.Val1018=)
n.7979T=
c.2225T= (p.Val742=)
n.7871T=
n.832T=
n.349T=
n.1124T=
c.24323T= (p.Val8108=)
c.24311T= (p.Val8104=)
c.24302T= (p.Val8101=)
c.24272T= (p.Val8091=)
c.24308T= (p.Val8103=)
c.24251T= (p.Val8084=)
c.24182T= (p.Val8061=)
c.24170T= (p.Val8057=)
c.24167T= (p.Val8056=)
c.24164T= (p.Val8055=)
c.24320T= (p.Val8107=)
c.24158T= (p.Val8053=)
c.22598T= (p.Val7533=)
c.22091T= (p.Val7364=)
c.17558T= (p.Val5853=)
c.893T= (p.Val298=)
c.24296T= (p.Val8099=)
c.24245T= (p.Val8082=)
6g.152151984A>CCA366086871SYNE1c.752T>G (p.Val251Gly)
c.24287T>G (p.Val8096Gly)
c.24074T>G (p.Val8025Gly)
c.22T>G
c.201T>G
c.59T>G (p.Val20Gly)
c.23072T>G (p.Val7691Gly)
n.966T>G
c.3053T>G (p.Val1018Gly)
n.7979T>G
c.2225T>G (p.Val742Gly)
n.7871T>G
n.832T>G
n.349T>G
n.1124T>G
c.24323T>G (p.Val8108Gly)
c.24311T>G (p.Val8104Gly)
c.24302T>G (p.Val8101Gly)
c.24272T>G (p.Val8091Gly)
c.24308T>G (p.Val8103Gly)
c.24251T>G (p.Val8084Gly)
c.24182T>G (p.Val8061Gly)
c.24170T>G (p.Val8057Gly)
c.24167T>G (p.Val8056Gly)
c.24164T>G (p.Val8055Gly)
c.24320T>G (p.Val8107Gly)
c.24158T>G (p.Val8053Gly)
c.22598T>G (p.Val7533Gly)
c.22091T>G (p.Val7364Gly)
c.17558T>G (p.Val5853Gly)
c.893T>G (p.Val298Gly)
c.24296T>G (p.Val8099Gly)
c.24245T>G (p.Val8082Gly)
6g.152151984A>GCA150176374SYNE1c.752T>C (p.Val251Ala)
c.24287T>C (p.Val8096Ala)
c.24074T>C (p.Val8025Ala)
c.22T>C
c.201T>C
c.59T>C (p.Val20Ala)
c.23072T>C (p.Val7691Ala)
n.966T>C
c.3053T>C (p.Val1018Ala)
n.7979T>C
c.2225T>C (p.Val742Ala)
n.7871T>C
n.832T>C
n.349T>C
n.1124T>C
c.24323T>C (p.Val8108Ala)
c.24311T>C (p.Val8104Ala)
c.24302T>C (p.Val8101Ala)
c.24272T>C (p.Val8091Ala)
c.24308T>C (p.Val8103Ala)
c.24251T>C (p.Val8084Ala)
c.24182T>C (p.Val8061Ala)
c.24170T>C (p.Val8057Ala)
c.24167T>C (p.Val8056Ala)
c.24164T>C (p.Val8055Ala)
c.24320T>C (p.Val8107Ala)
c.24158T>C (p.Val8053Ala)
c.22598T>C (p.Val7533Ala)
c.22091T>C (p.Val7364Ala)
c.17558T>C (p.Val5853Ala)
c.893T>C (p.Val298Ala)
c.24296T>C (p.Val8099Ala)
c.24245T>C (p.Val8082Ala)
 dbSNP gnomAD v2 gnomAD v4
6g.152151984A>TCA366086872SYNE1c.752T>A (p.Val251Asp)
c.24287T>A (p.Val8096Asp)
c.24074T>A (p.Val8025Asp)
c.22T>A
c.201T>A
c.59T>A (p.Val20Asp)
c.23072T>A (p.Val7691Asp)
n.966T>A
c.3053T>A (p.Val1018Asp)
n.7979T>A
c.2225T>A (p.Val742Asp)
n.7871T>A
n.832T>A
n.349T>A
n.1124T>A
c.24323T>A (p.Val8108Asp)
c.24311T>A (p.Val8104Asp)
c.24302T>A (p.Val8101Asp)
c.24272T>A (p.Val8091Asp)
c.24308T>A (p.Val8103Asp)
c.24251T>A (p.Val8084Asp)
c.24182T>A (p.Val8061Asp)
c.24170T>A (p.Val8057Asp)
c.24167T>A (p.Val8056Asp)
c.24164T>A (p.Val8055Asp)
c.24320T>A (p.Val8107Asp)
c.24158T>A (p.Val8053Asp)
c.22598T>A (p.Val7533Asp)
c.22091T>A (p.Val7364Asp)
c.17558T>A (p.Val5853Asp)
c.893T>A (p.Val298Asp)
c.24296T>A (p.Val8099Asp)
c.24245T>A (p.Val8082Asp)
6g.152151985C>ACA366086873SYNE1c.751G>T (p.Val251Phe)
c.24286G>T (p.Val8096Phe)
c.24073G>T (p.Val8025Phe)
c.21G>T
c.200G>T
c.58G>T (p.Val20Phe)
c.23071G>T (p.Val7691Phe)
n.965G>T
c.3052G>T (p.Val1018Phe)
n.7978G>T
c.2224G>T (p.Val742Phe)
n.7870G>T
n.831G>T
n.348G>T
n.1123G>T
c.24322G>T (p.Val8108Phe)
c.24310G>T (p.Val8104Phe)
c.24301G>T (p.Val8101Phe)
c.24271G>T (p.Val8091Phe)
c.24307G>T (p.Val8103Phe)
c.24250G>T (p.Val8084Phe)
c.24181G>T (p.Val8061Phe)
c.24169G>T (p.Val8057Phe)
c.24166G>T (p.Val8056Phe)
c.24163G>T (p.Val8055Phe)
c.24319G>T (p.Val8107Phe)
c.24157G>T (p.Val8053Phe)
c.22597G>T (p.Val7533Phe)
c.22090G>T (p.Val7364Phe)
c.17557G>T (p.Val5853Phe)
c.892G>T (p.Val298Phe)
c.24295G>T (p.Val8099Phe)
c.24244G>T (p.Val8082Phe)
6g.152151985C=CA1673186785SYNE1c.751G= (p.Val251=)
c.24286G= (p.Val8096=)
c.24073G= (p.Val8025=)
c.21G=
c.200G=
c.58G= (p.Val20=)
c.23071G= (p.Val7691=)
n.965G=
c.3052G= (p.Val1018=)
n.7978G=
c.2224G= (p.Val742=)
n.7870G=
n.831G=
n.348G=
n.1123G=
c.24322G= (p.Val8108=)
c.24310G= (p.Val8104=)
c.24301G= (p.Val8101=)
c.24271G= (p.Val8091=)
c.24307G= (p.Val8103=)
c.24250G= (p.Val8084=)
c.24181G= (p.Val8061=)
c.24169G= (p.Val8057=)
c.24166G= (p.Val8056=)
c.24163G= (p.Val8055=)
c.24319G= (p.Val8107=)
c.24157G= (p.Val8053=)
c.22597G= (p.Val7533=)
c.22090G= (p.Val7364=)
c.17557G= (p.Val5853=)
c.892G= (p.Val298=)
c.24295G= (p.Val8099=)
c.24244G= (p.Val8082=)
6g.152151985C>GCA150176382SYNE1c.751G>C (p.Val251Leu)
c.24286G>C (p.Val8096Leu)
c.24073G>C (p.Val8025Leu)
c.21G>C
c.200G>C
c.58G>C (p.Val20Leu)
c.23071G>C (p.Val7691Leu)
n.965G>C
c.3052G>C (p.Val1018Leu)
n.7978G>C
c.2224G>C (p.Val742Leu)
n.7870G>C
n.831G>C
n.348G>C
n.1123G>C
c.24322G>C (p.Val8108Leu)
c.24310G>C (p.Val8104Leu)
c.24301G>C (p.Val8101Leu)
c.24271G>C (p.Val8091Leu)
c.24307G>C (p.Val8103Leu)
c.24250G>C (p.Val8084Leu)
c.24181G>C (p.Val8061Leu)
c.24169G>C (p.Val8057Leu)
c.24166G>C (p.Val8056Leu)
c.24163G>C (p.Val8055Leu)
c.24319G>C (p.Val8107Leu)
c.24157G>C (p.Val8053Leu)
c.22597G>C (p.Val7533Leu)
c.22090G>C (p.Val7364Leu)
c.17557G>C (p.Val5853Leu)
c.892G>C (p.Val298Leu)
c.24295G>C (p.Val8099Leu)
c.24244G>C (p.Val8082Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.152151985C>TCA366086874SYNE1c.751G>A (p.Val251Ile)
c.24286G>A (p.Val8096Ile)
c.24073G>A (p.Val8025Ile)
c.21G>A
c.200G>A
c.58G>A (p.Val20Ile)
c.23071G>A (p.Val7691Ile)
n.965G>A
c.3052G>A (p.Val1018Ile)
n.7978G>A
c.2224G>A (p.Val742Ile)
n.7870G>A
n.831G>A
n.348G>A
n.1123G>A
c.24322G>A (p.Val8108Ile)
c.24310G>A (p.Val8104Ile)
c.24301G>A (p.Val8101Ile)
c.24271G>A (p.Val8091Ile)
c.24307G>A (p.Val8103Ile)
c.24250G>A (p.Val8084Ile)
c.24181G>A (p.Val8061Ile)
c.24169G>A (p.Val8057Ile)
c.24166G>A (p.Val8056Ile)
c.24163G>A (p.Val8055Ile)
c.24319G>A (p.Val8107Ile)
c.24157G>A (p.Val8053Ile)
c.22597G>A (p.Val7533Ile)
c.22090G>A (p.Val7364Ile)
c.17557G>A (p.Val5853Ile)
c.892G>A (p.Val298Ile)
c.24295G>A (p.Val8099Ile)
c.24244G>A (p.Val8082Ile)
 dbSNP gnomAD v2
6g.152151986A=CA1673186791SYNE1c.750T= (p.Arg250=)
c.24285T= (p.Arg8095=)
c.24072T= (p.Arg8024=)
c.20T=
c.199T=
c.57T= (p.Arg19=)
c.23070T= (p.Arg7690=)
n.964T=
c.3051T= (p.Arg1017=)
n.7977T=
c.2223T= (p.Arg741=)
n.7869T=
n.830T=
n.347T=
n.1122T=
c.24321T= (p.Arg8107=)
c.24309T= (p.Arg8103=)
c.24300T= (p.Arg8100=)
c.24270T= (p.Arg8090=)
c.24306T= (p.Arg8102=)
c.24249T= (p.Arg8083=)
c.24180T= (p.Arg8060=)
c.24168T= (p.Arg8056=)
c.24165T= (p.Arg8055=)
c.24162T= (p.Arg8054=)
c.24318T= (p.Arg8106=)
c.24156T= (p.Arg8052=)
c.22596T= (p.Arg7532=)
c.22089T= (p.Arg7363=)
c.17556T= (p.Arg5852=)
c.891T= (p.Arg297=)
c.24294T= (p.Arg8098=)
c.24243T= (p.Arg8081=)
6g.152151986A>CCA452748217SYNE1c.750T>G (p.Arg250=)
c.24285T>G (p.Arg8095=)
c.24072T>G (p.Arg8024=)
c.20T>G
c.199T>G
c.57T>G (p.Arg19=)
c.23070T>G (p.Arg7690=)
n.964T>G
c.3051T>G (p.Arg1017=)
n.7977T>G
c.2223T>G (p.Arg741=)
n.7869T>G
n.830T>G
n.347T>G
n.1122T>G
c.24321T>G (p.Arg8107=)
c.24309T>G (p.Arg8103=)
c.24300T>G (p.Arg8100=)
c.24270T>G (p.Arg8090=)
c.24306T>G (p.Arg8102=)
c.24249T>G (p.Arg8083=)
c.24180T>G (p.Arg8060=)
c.24168T>G (p.Arg8056=)
c.24165T>G (p.Arg8055=)
c.24162T>G (p.Arg8054=)
c.24318T>G (p.Arg8106=)
c.24156T>G (p.Arg8052=)
c.22596T>G (p.Arg7532=)
c.22089T>G (p.Arg7363=)
c.17556T>G (p.Arg5852=)
c.891T>G (p.Arg297=)
c.24294T>G (p.Arg8098=)
c.24243T>G (p.Arg8081=)
6g.152151986A>GCA452748218SYNE1c.750T>C (p.Arg250=)
c.24285T>C (p.Arg8095=)
c.24072T>C (p.Arg8024=)
c.20T>C
c.199T>C
c.57T>C (p.Arg19=)
c.23070T>C (p.Arg7690=)
n.964T>C
c.3051T>C (p.Arg1017=)
n.7977T>C
c.2223T>C (p.Arg741=)
n.7869T>C
n.830T>C
n.347T>C
n.1122T>C
c.24321T>C (p.Arg8107=)
c.24309T>C (p.Arg8103=)
c.24300T>C (p.Arg8100=)
c.24270T>C (p.Arg8090=)
c.24306T>C (p.Arg8102=)
c.24249T>C (p.Arg8083=)
c.24180T>C (p.Arg8060=)
c.24168T>C (p.Arg8056=)
c.24165T>C (p.Arg8055=)
c.24162T>C (p.Arg8054=)
c.24318T>C (p.Arg8106=)
c.24156T>C (p.Arg8052=)
c.22596T>C (p.Arg7532=)
c.22089T>C (p.Arg7363=)
c.17556T>C (p.Arg5852=)
c.891T>C (p.Arg297=)
c.24294T>C (p.Arg8098=)
c.24243T>C (p.Arg8081=)
 dbSNP gnomAD v2
6g.152151986A>TCA452748219SYNE1c.750T>A (p.Arg250=)
c.24285T>A (p.Arg8095=)
c.24072T>A (p.Arg8024=)
c.20T>A
c.199T>A
c.57T>A (p.Arg19=)
c.23070T>A (p.Arg7690=)
n.964T>A
c.3051T>A (p.Arg1017=)
n.7977T>A
c.2223T>A (p.Arg741=)
n.7869T>A
n.830T>A
n.347T>A
n.1122T>A
c.24321T>A (p.Arg8107=)
c.24309T>A (p.Arg8103=)
c.24300T>A (p.Arg8100=)
c.24270T>A (p.Arg8090=)
c.24306T>A (p.Arg8102=)
c.24249T>A (p.Arg8083=)
c.24180T>A (p.Arg8060=)
c.24168T>A (p.Arg8056=)
c.24165T>A (p.Arg8055=)
c.24162T>A (p.Arg8054=)
c.24318T>A (p.Arg8106=)
c.24156T>A (p.Arg8052=)
c.22596T>A (p.Arg7532=)
c.22089T>A (p.Arg7363=)
c.17556T>A (p.Arg5852=)
c.891T>A (p.Arg297=)
c.24294T>A (p.Arg8098=)
c.24243T>A (p.Arg8081=)
6g.152151987C>ACA366086875SYNE1c.749G>T (p.Arg250Leu)
c.24284G>T (p.Arg8095Leu)
c.24071G>T (p.Arg8024Leu)
c.19G>T
c.198G>T
c.56G>T (p.Arg19Leu)
c.23069G>T (p.Arg7690Leu)
n.963G>T
c.3050G>T (p.Arg1017Leu)
n.7976G>T
c.2222G>T (p.Arg741Leu)
n.7868G>T
n.829G>T
n.346G>T
n.1121G>T
c.24320G>T (p.Arg8107Leu)
c.24308G>T (p.Arg8103Leu)
c.24299G>T (p.Arg8100Leu)
c.24269G>T (p.Arg8090Leu)
c.24305G>T (p.Arg8102Leu)
c.24248G>T (p.Arg8083Leu)
c.24179G>T (p.Arg8060Leu)
c.24167G>T (p.Arg8056Leu)
c.24164G>T (p.Arg8055Leu)
c.24161G>T (p.Arg8054Leu)
c.24317G>T (p.Arg8106Leu)
c.24155G>T (p.Arg8052Leu)
c.22595G>T (p.Arg7532Leu)
c.22088G>T (p.Arg7363Leu)
c.17555G>T (p.Arg5852Leu)
c.890G>T (p.Arg297Leu)
c.24293G>T (p.Arg8098Leu)
c.24242G>T (p.Arg8081Leu)
 gnomAD v4
6g.152151987C=CA1673186801SYNE1c.749G= (p.Arg250=)
c.24284G= (p.Arg8095=)
c.24071G= (p.Arg8024=)
c.19G=
c.198G=
c.56G= (p.Arg19=)
c.23069G= (p.Arg7690=)
n.963G=
c.3050G= (p.Arg1017=)
n.7976G=
c.2222G= (p.Arg741=)
n.7868G=
n.829G=
n.346G=
n.1121G=
c.24320G= (p.Arg8107=)
c.24308G= (p.Arg8103=)
c.24299G= (p.Arg8100=)
c.24269G= (p.Arg8090=)
c.24305G= (p.Arg8102=)
c.24248G= (p.Arg8083=)
c.24179G= (p.Arg8060=)
c.24167G= (p.Arg8056=)
c.24164G= (p.Arg8055=)
c.24161G= (p.Arg8054=)
c.24317G= (p.Arg8106=)
c.24155G= (p.Arg8052=)
c.22595G= (p.Arg7532=)
c.22088G= (p.Arg7363=)
c.17555G= (p.Arg5852=)
c.890G= (p.Arg297=)
c.24293G= (p.Arg8098=)
c.24242G= (p.Arg8081=)
6g.152151987C>GCA366086876SYNE1c.749G>C (p.Arg250Pro)
c.24284G>C (p.Arg8095Pro)
c.24071G>C (p.Arg8024Pro)
c.19G>C
c.198G>C
c.56G>C (p.Arg19Pro)
c.23069G>C (p.Arg7690Pro)
n.963G>C
c.3050G>C (p.Arg1017Pro)
n.7976G>C
c.2222G>C (p.Arg741Pro)
n.7868G>C
n.829G>C
n.346G>C
n.1121G>C
c.24320G>C (p.Arg8107Pro)
c.24308G>C (p.Arg8103Pro)
c.24299G>C (p.Arg8100Pro)
c.24269G>C (p.Arg8090Pro)
c.24305G>C (p.Arg8102Pro)
c.24248G>C (p.Arg8083Pro)
c.24179G>C (p.Arg8060Pro)
c.24167G>C (p.Arg8056Pro)
c.24164G>C (p.Arg8055Pro)
c.24161G>C (p.Arg8054Pro)
c.24317G>C (p.Arg8106Pro)
c.24155G>C (p.Arg8052Pro)
c.22595G>C (p.Arg7532Pro)
c.22088G>C (p.Arg7363Pro)
c.17555G>C (p.Arg5852Pro)
c.890G>C (p.Arg297Pro)
c.24293G>C (p.Arg8098Pro)
c.24242G>C (p.Arg8081Pro)
6g.152151987C>TCA115484SYNE1c.749G>A (p.Arg250His)
c.24284G>A (p.Arg8095His)
c.24071G>A (p.Arg8024His)
c.19G>A
c.198G>A
c.56G>A (p.Arg19His)
c.23069G>A (p.Arg7690His)
n.963G>A
c.3050G>A (p.Arg1017His)
n.7976G>A
c.2222G>A (p.Arg741His)
n.7868G>A
n.829G>A
n.346G>A
n.1121G>A
c.24320G>A (p.Arg8107His)
c.24308G>A (p.Arg8103His)
c.24299G>A (p.Arg8100His)
c.24269G>A (p.Arg8090His)
c.24305G>A (p.Arg8102His)
c.24248G>A (p.Arg8083His)
c.24179G>A (p.Arg8060His)
c.24167G>A (p.Arg8056His)
c.24164G>A (p.Arg8055His)
c.24161G>A (p.Arg8054His)
c.24317G>A (p.Arg8106His)
c.24155G>A (p.Arg8052His)
c.22595G>A (p.Arg7532His)
c.22088G>A (p.Arg7363His)
c.17555G>A (p.Arg5852His)
c.890G>A (p.Arg297His)
c.24293G>A (p.Arg8098His)
c.24242G>A (p.Arg8081His)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152151988G>ACA4053227SYNE1c.748C>T (p.Arg250Cys)
c.24283C>T (p.Arg8095Cys)
c.24070C>T (p.Arg8024Cys)
c.18C>T
c.197C>T
c.55C>T (p.Arg19Cys)
c.23068C>T (p.Arg7690Cys)
n.962C>T
c.3049C>T (p.Arg1017Cys)
n.7975C>T
c.2221C>T (p.Arg741Cys)
n.7867C>T
n.828C>T
n.345C>T
n.1120C>T
c.24319C>T (p.Arg8107Cys)
c.24307C>T (p.Arg8103Cys)
c.24298C>T (p.Arg8100Cys)
c.24268C>T (p.Arg8090Cys)
c.24304C>T (p.Arg8102Cys)
c.24247C>T (p.Arg8083Cys)
c.24178C>T (p.Arg8060Cys)
c.24166C>T (p.Arg8056Cys)
c.24163C>T (p.Arg8055Cys)
c.24160C>T (p.Arg8054Cys)
c.24316C>T (p.Arg8106Cys)
c.24154C>T (p.Arg8052Cys)
c.22594C>T (p.Arg7532Cys)
c.22087C>T (p.Arg7363Cys)
c.17554C>T (p.Arg5852Cys)
c.889C>T (p.Arg297Cys)
c.24292C>T (p.Arg8098Cys)
c.24241C>T (p.Arg8081Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152151988G>CCA366086877SYNE1c.748C>G (p.Arg250Gly)
c.24283C>G (p.Arg8095Gly)
c.24070C>G (p.Arg8024Gly)
c.18C>G
c.197C>G
c.55C>G (p.Arg19Gly)
c.23068C>G (p.Arg7690Gly)
n.962C>G
c.3049C>G (p.Arg1017Gly)
n.7975C>G
c.2221C>G (p.Arg741Gly)
n.7867C>G
n.828C>G
n.345C>G
n.1120C>G
c.24319C>G (p.Arg8107Gly)
c.24307C>G (p.Arg8103Gly)
c.24298C>G (p.Arg8100Gly)
c.24268C>G (p.Arg8090Gly)
c.24304C>G (p.Arg8102Gly)
c.24247C>G (p.Arg8083Gly)
c.24178C>G (p.Arg8060Gly)
c.24166C>G (p.Arg8056Gly)
c.24163C>G (p.Arg8055Gly)
c.24160C>G (p.Arg8054Gly)
c.24316C>G (p.Arg8106Gly)
c.24154C>G (p.Arg8052Gly)
c.22594C>G (p.Arg7532Gly)
c.22087C>G (p.Arg7363Gly)
c.17554C>G (p.Arg5852Gly)
c.889C>G (p.Arg297Gly)
c.24292C>G (p.Arg8098Gly)
c.24241C>G (p.Arg8081Gly)
6g.152151988G=CA1673186812SYNE1c.748C= (p.Arg250=)
c.24283C= (p.Arg8095=)
c.24070C= (p.Arg8024=)
c.18C=
c.197C=
c.55C= (p.Arg19=)
c.23068C= (p.Arg7690=)
n.962C=
c.3049C= (p.Arg1017=)
n.7975C=
c.2221C= (p.Arg741=)
n.7867C=
n.828C=
n.345C=
n.1120C=
c.24319C= (p.Arg8107=)
c.24307C= (p.Arg8103=)
c.24298C= (p.Arg8100=)
c.24268C= (p.Arg8090=)
c.24304C= (p.Arg8102=)
c.24247C= (p.Arg8083=)
c.24178C= (p.Arg8060=)
c.24166C= (p.Arg8056=)
c.24163C= (p.Arg8055=)
c.24160C= (p.Arg8054=)
c.24316C= (p.Arg8106=)
c.24154C= (p.Arg8052=)
c.22594C= (p.Arg7532=)
c.22087C= (p.Arg7363=)
c.17554C= (p.Arg5852=)
c.889C= (p.Arg297=)
c.24292C= (p.Arg8098=)
c.24241C= (p.Arg8081=)
6g.152151988G>TCA366086878SYNE1c.748C>A (p.Arg250Ser)
c.24283C>A (p.Arg8095Ser)
c.24070C>A (p.Arg8024Ser)
c.18C>A
c.197C>A
c.55C>A (p.Arg19Ser)
c.23068C>A (p.Arg7690Ser)
n.962C>A
c.3049C>A (p.Arg1017Ser)
n.7975C>A
c.2221C>A (p.Arg741Ser)
n.7867C>A
n.828C>A
n.345C>A
n.1120C>A
c.24319C>A (p.Arg8107Ser)
c.24307C>A (p.Arg8103Ser)
c.24298C>A (p.Arg8100Ser)
c.24268C>A (p.Arg8090Ser)
c.24304C>A (p.Arg8102Ser)
c.24247C>A (p.Arg8083Ser)
c.24178C>A (p.Arg8060Ser)
c.24166C>A (p.Arg8056Ser)
c.24163C>A (p.Arg8055Ser)
c.24160C>A (p.Arg8054Ser)
c.24316C>A (p.Arg8106Ser)
c.24154C>A (p.Arg8052Ser)
c.22594C>A (p.Arg7532Ser)
c.22087C>A (p.Arg7363Ser)
c.17554C>A (p.Arg5852Ser)
c.889C>A (p.Arg297Ser)
c.24292C>A (p.Arg8098Ser)
c.24241C>A (p.Arg8081Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.152151989C>ACA366086879SYNE1c.747G>T (p.Lys249Asn)
c.24282G>T (p.Lys8094Asn)
c.24069G>T (p.Lys8023Asn)
c.17G>T
c.196G>T
c.54G>T (p.Lys18Asn)
c.23067G>T (p.Lys7689Asn)
n.961G>T
c.3048G>T (p.Lys1016Asn)
n.7974G>T
c.2220G>T (p.Lys740Asn)
n.7866G>T
n.827G>T
n.344G>T
n.1119G>T
c.24318G>T (p.Lys8106Asn)
c.24306G>T (p.Lys8102Asn)
c.24297G>T (p.Lys8099Asn)
c.24267G>T (p.Lys8089Asn)
c.24303G>T (p.Lys8101Asn)
c.24246G>T (p.Lys8082Asn)
c.24177G>T (p.Lys8059Asn)
c.24165G>T (p.Lys8055Asn)
c.24162G>T (p.Lys8054Asn)
c.24159G>T (p.Lys8053Asn)
c.24315G>T (p.Lys8105Asn)
c.24153G>T (p.Lys8051Asn)
c.22593G>T (p.Lys7531Asn)
c.22086G>T (p.Lys7362Asn)
c.17553G>T (p.Lys5851Asn)
c.888G>T (p.Lys296Asn)
c.24291G>T (p.Lys8097Asn)
c.24240G>T (p.Lys8080Asn)
6g.152151989C=CA1673186817SYNE1c.747G= (p.Lys249=)
c.24282G= (p.Lys8094=)
c.24069G= (p.Lys8023=)
c.17G=
c.196G=
c.54G= (p.Lys18=)
c.23067G= (p.Lys7689=)
n.961G=
c.3048G= (p.Lys1016=)
n.7974G=
c.2220G= (p.Lys740=)
n.7866G=
n.827G=
n.344G=
n.1119G=
c.24318G= (p.Lys8106=)
c.24306G= (p.Lys8102=)
c.24297G= (p.Lys8099=)
c.24267G= (p.Lys8089=)
c.24303G= (p.Lys8101=)
c.24246G= (p.Lys8082=)
c.24177G= (p.Lys8059=)
c.24165G= (p.Lys8055=)
c.24162G= (p.Lys8054=)
c.24159G= (p.Lys8053=)
c.24315G= (p.Lys8105=)
c.24153G= (p.Lys8051=)
c.22593G= (p.Lys7531=)
c.22086G= (p.Lys7362=)
c.17553G= (p.Lys5851=)
c.888G= (p.Lys296=)
c.24291G= (p.Lys8097=)
c.24240G= (p.Lys8080=)
6g.152151989C>GCA366086880SYNE1c.747G>C (p.Lys249Asn)
c.24282G>C (p.Lys8094Asn)
c.24069G>C (p.Lys8023Asn)
c.17G>C
c.196G>C
c.54G>C (p.Lys18Asn)
c.23067G>C (p.Lys7689Asn)
n.961G>C
c.3048G>C (p.Lys1016Asn)
n.7974G>C
c.2220G>C (p.Lys740Asn)
n.7866G>C
n.827G>C
n.344G>C
n.1119G>C
c.24318G>C (p.Lys8106Asn)
c.24306G>C (p.Lys8102Asn)
c.24297G>C (p.Lys8099Asn)
c.24267G>C (p.Lys8089Asn)
c.24303G>C (p.Lys8101Asn)
c.24246G>C (p.Lys8082Asn)
c.24177G>C (p.Lys8059Asn)
c.24165G>C (p.Lys8055Asn)
c.24162G>C (p.Lys8054Asn)
c.24159G>C (p.Lys8053Asn)
c.24315G>C (p.Lys8105Asn)
c.24153G>C (p.Lys8051Asn)
c.22593G>C (p.Lys7531Asn)
c.22086G>C (p.Lys7362Asn)
c.17553G>C (p.Lys5851Asn)
c.888G>C (p.Lys296Asn)
c.24291G>C (p.Lys8097Asn)
c.24240G>C (p.Lys8080Asn)
6g.152151989C>TCA452748223SYNE1c.747G>A (p.Lys249=)
c.24282G>A (p.Lys8094=)
c.24069G>A (p.Lys8023=)
c.17G>A
c.196G>A
c.54G>A (p.Lys18=)
c.23067G>A (p.Lys7689=)
n.961G>A
c.3048G>A (p.Lys1016=)
n.7974G>A
c.2220G>A (p.Lys740=)
n.7866G>A
n.827G>A
n.344G>A
n.1119G>A
c.24318G>A (p.Lys8106=)
c.24306G>A (p.Lys8102=)
c.24297G>A (p.Lys8099=)
c.24267G>A (p.Lys8089=)
c.24303G>A (p.Lys8101=)
c.24246G>A (p.Lys8082=)
c.24177G>A (p.Lys8059=)
c.24165G>A (p.Lys8055=)
c.24162G>A (p.Lys8054=)
c.24159G>A (p.Lys8053=)
c.24315G>A (p.Lys8105=)
c.24153G>A (p.Lys8051=)
c.22593G>A (p.Lys7531=)
c.22086G>A (p.Lys7362=)
c.17553G>A (p.Lys5851=)
c.888G>A (p.Lys296=)
c.24291G>A (p.Lys8097=)
c.24240G>A (p.Lys8080=)
 dbSNP
6g.152151990T>ACA366086881SYNE1c.746A>T (p.Lys249Met)
c.24281A>T (p.Lys8094Met)
c.24068A>T (p.Lys8023Met)
c.16A>T
c.195A>T
c.53A>T (p.Lys18Met)
c.23066A>T (p.Lys7689Met)
n.960A>T
c.3047A>T (p.Lys1016Met)
n.7973A>T
c.2219A>T (p.Lys740Met)
n.7865A>T
n.826A>T
n.343A>T
n.1118A>T
c.24317A>T (p.Lys8106Met)
c.24305A>T (p.Lys8102Met)
c.24296A>T (p.Lys8099Met)
c.24266A>T (p.Lys8089Met)
c.24302A>T (p.Lys8101Met)
c.24245A>T (p.Lys8082Met)
c.24176A>T (p.Lys8059Met)
c.24164A>T (p.Lys8055Met)
c.24161A>T (p.Lys8054Met)
c.24158A>T (p.Lys8053Met)
c.24314A>T (p.Lys8105Met)
c.24152A>T (p.Lys8051Met)
c.22592A>T (p.Lys7531Met)
c.22085A>T (p.Lys7362Met)
c.17552A>T (p.Lys5851Met)
c.887A>T (p.Lys296Met)
c.24290A>T (p.Lys8097Met)
c.24239A>T (p.Lys8080Met)
6g.152151990T>CCA366086882SYNE1c.746A>G (p.Lys249Arg)
c.24281A>G (p.Lys8094Arg)
c.24068A>G (p.Lys8023Arg)
c.16A>G
c.195A>G
c.53A>G (p.Lys18Arg)
c.23066A>G (p.Lys7689Arg)
n.960A>G
c.3047A>G (p.Lys1016Arg)
n.7973A>G
c.2219A>G (p.Lys740Arg)
n.7865A>G
n.826A>G
n.343A>G
n.1118A>G
c.24317A>G (p.Lys8106Arg)
c.24305A>G (p.Lys8102Arg)
c.24296A>G (p.Lys8099Arg)
c.24266A>G (p.Lys8089Arg)
c.24302A>G (p.Lys8101Arg)
c.24245A>G (p.Lys8082Arg)
c.24176A>G (p.Lys8059Arg)
c.24164A>G (p.Lys8055Arg)
c.24161A>G (p.Lys8054Arg)
c.24158A>G (p.Lys8053Arg)
c.24314A>G (p.Lys8105Arg)
c.24152A>G (p.Lys8051Arg)
c.22592A>G (p.Lys7531Arg)
c.22085A>G (p.Lys7362Arg)
c.17552A>G (p.Lys5851Arg)
c.887A>G (p.Lys296Arg)
c.24290A>G (p.Lys8097Arg)
c.24239A>G (p.Lys8080Arg)
 gnomAD v4
6g.152151990T>GCA366086883SYNE1c.746A>C (p.Lys249Thr)
c.24281A>C (p.Lys8094Thr)
c.24068A>C (p.Lys8023Thr)
c.16A>C
c.195A>C
c.53A>C (p.Lys18Thr)
c.23066A>C (p.Lys7689Thr)
n.960A>C
c.3047A>C (p.Lys1016Thr)
n.7973A>C
c.2219A>C (p.Lys740Thr)
n.7865A>C
n.826A>C
n.343A>C
n.1118A>C
c.24317A>C (p.Lys8106Thr)
c.24305A>C (p.Lys8102Thr)
c.24296A>C (p.Lys8099Thr)
c.24266A>C (p.Lys8089Thr)
c.24302A>C (p.Lys8101Thr)
c.24245A>C (p.Lys8082Thr)
c.24176A>C (p.Lys8059Thr)
c.24164A>C (p.Lys8055Thr)
c.24161A>C (p.Lys8054Thr)
c.24158A>C (p.Lys8053Thr)
c.24314A>C (p.Lys8105Thr)
c.24152A>C (p.Lys8051Thr)
c.22592A>C (p.Lys7531Thr)
c.22085A>C (p.Lys7362Thr)
c.17552A>C (p.Lys5851Thr)
c.887A>C (p.Lys296Thr)
c.24290A>C (p.Lys8097Thr)
c.24239A>C (p.Lys8080Thr)
6g.152151993dupCA4053228SYNE1c.746dup (p.Arg250AlafsTer17)
c.24281dup (p.Arg8095AlafsTer17)
c.24068dup (p.Arg8024AlafsTer17)
c.16dup
c.195dup
c.53dup (p.Arg19AlafsTer17)
c.23066dup (p.Arg7690AlafsTer17)
n.960dup
c.3047dup (p.Arg1017AlafsTer17)
n.7973dup
c.2219dup (p.Arg741AlafsTer17)
n.7865dup
n.826dup
n.343dup
n.1118dup
c.24317dup (p.Arg8107AlafsTer17)
c.24305dup (p.Arg8103AlafsTer17)
c.24296dup (p.Arg8100AlafsTer17)
c.24266dup (p.Arg8090AlafsTer17)
c.24302dup (p.Arg8102AlafsTer17)
c.24245dup (p.Arg8083AlafsTer17)
c.24176dup (p.Arg8060AlafsTer17)
c.24164dup (p.Arg8056AlafsTer17)
c.24161dup (p.Arg8055AlafsTer17)
c.24158dup (p.Arg8054AlafsTer17)
c.24314dup (p.Arg8106AlafsTer17)
c.24152dup (p.Arg8052AlafsTer17)
c.22592dup (p.Arg7532AlafsTer17)
c.22085dup (p.Arg7363AlafsTer17)
c.17552dup (p.Arg5852AlafsTer17)
c.887dup (p.Arg297AlafsTer17)
c.24290dup (p.Arg8098AlafsTer17)
c.24239dup (p.Arg8081AlafsTer17)
 dbSNP ExAC gnomAD v2
6g.152151991T>ACA366086884SYNE1c.745A>T (p.Lys249Ter)
c.24280A>T (p.Lys8094Ter)
c.24067A>T (p.Lys8023Ter)
c.15A>T
c.194A>T
c.52A>T (p.Lys18Ter)
c.23065A>T (p.Lys7689Ter)
n.959A>T
c.3046A>T (p.Lys1016Ter)
n.7972A>T
c.2218A>T (p.Lys740Ter)
n.7864A>T
n.825A>T
n.342A>T
n.1117A>T
c.24316A>T (p.Lys8106Ter)
c.24304A>T (p.Lys8102Ter)
c.24295A>T (p.Lys8099Ter)
c.24265A>T (p.Lys8089Ter)
c.24301A>T (p.Lys8101Ter)
c.24244A>T (p.Lys8082Ter)
c.24175A>T (p.Lys8059Ter)
c.24163A>T (p.Lys8055Ter)
c.24160A>T (p.Lys8054Ter)
c.24157A>T (p.Lys8053Ter)
c.24313A>T (p.Lys8105Ter)
c.24151A>T (p.Lys8051Ter)
c.22591A>T (p.Lys7531Ter)
c.22084A>T (p.Lys7362Ter)
c.17551A>T (p.Lys5851Ter)
c.886A>T (p.Lys296Ter)
c.24289A>T (p.Lys8097Ter)
c.24238A>T (p.Lys8080Ter)
6g.152151991T>CCA366086885SYNE1c.745A>G (p.Lys249Glu)
c.24280A>G (p.Lys8094Glu)
c.24067A>G (p.Lys8023Glu)
c.15A>G
c.194A>G
c.52A>G (p.Lys18Glu)
c.23065A>G (p.Lys7689Glu)
n.959A>G
c.3046A>G (p.Lys1016Glu)
n.7972A>G
c.2218A>G (p.Lys740Glu)
n.7864A>G
n.825A>G
n.342A>G
n.1117A>G
c.24316A>G (p.Lys8106Glu)
c.24304A>G (p.Lys8102Glu)
c.24295A>G (p.Lys8099Glu)
c.24265A>G (p.Lys8089Glu)
c.24301A>G (p.Lys8101Glu)
c.24244A>G (p.Lys8082Glu)
c.24175A>G (p.Lys8059Glu)
c.24163A>G (p.Lys8055Glu)
c.24160A>G (p.Lys8054Glu)
c.24157A>G (p.Lys8053Glu)
c.24313A>G (p.Lys8105Glu)
c.24151A>G (p.Lys8051Glu)
c.22591A>G (p.Lys7531Glu)
c.22084A>G (p.Lys7362Glu)
c.17551A>G (p.Lys5851Glu)
c.886A>G (p.Lys296Glu)
c.24289A>G (p.Lys8097Glu)
c.24238A>G (p.Lys8080Glu)
6g.152151991T>GCA366086886SYNE1c.745A>C (p.Lys249Gln)
c.24280A>C (p.Lys8094Gln)
c.24067A>C (p.Lys8023Gln)
c.15A>C
c.194A>C
c.52A>C (p.Lys18Gln)
c.23065A>C (p.Lys7689Gln)
n.959A>C
c.3046A>C (p.Lys1016Gln)
n.7972A>C
c.2218A>C (p.Lys740Gln)
n.7864A>C
n.825A>C
n.342A>C
n.1117A>C
c.24316A>C (p.Lys8106Gln)
c.24304A>C (p.Lys8102Gln)
c.24295A>C (p.Lys8099Gln)
c.24265A>C (p.Lys8089Gln)
c.24301A>C (p.Lys8101Gln)
c.24244A>C (p.Lys8082Gln)
c.24175A>C (p.Lys8059Gln)
c.24163A>C (p.Lys8055Gln)
c.24160A>C (p.Lys8054Gln)
c.24157A>C (p.Lys8053Gln)
c.24313A>C (p.Lys8105Gln)
c.24151A>C (p.Lys8051Gln)
c.22591A>C (p.Lys7531Gln)
c.22084A>C (p.Lys7362Gln)
c.17551A>C (p.Lys5851Gln)
c.886A>C (p.Lys296Gln)
c.24289A>C (p.Lys8097Gln)
c.24238A>C (p.Lys8080Gln)
6g.152151992T>ACA366086888SYNE1c.744A>T (p.Gln248His)
c.24279A>T (p.Gln8093His)
c.24066A>T (p.Gln8022His)
c.14A>T
c.193A>T
c.51A>T (p.Gln17His)
c.23064A>T (p.Gln7688His)
n.958A>T
c.3045A>T (p.Gln1015His)
n.7971A>T
c.2217A>T (p.Gln739His)
n.7863A>T
n.824A>T
n.341A>T
n.1116A>T
c.24315A>T (p.Gln8105His)
c.24303A>T (p.Gln8101His)
c.24294A>T (p.Gln8098His)
c.24264A>T (p.Gln8088His)
c.24300A>T (p.Gln8100His)
c.24243A>T (p.Gln8081His)
c.24174A>T (p.Gln8058His)
c.24162A>T (p.Gln8054His)
c.24159A>T (p.Gln8053His)
c.24156A>T (p.Gln8052His)
c.24312A>T (p.Gln8104His)
c.24150A>T (p.Gln8050His)
c.22590A>T (p.Gln7530His)
c.22083A>T (p.Gln7361His)
c.17550A>T (p.Gln5850His)
c.885A>T (p.Gln295His)
c.24288A>T (p.Gln8096His)
c.24237A>T (p.Gln8079His)
6g.152151992T>CCA452748225SYNE1c.744A>G (p.Gln248=)
c.24279A>G (p.Gln8093=)
c.24066A>G (p.Gln8022=)
c.14A>G
c.193A>G
c.51A>G (p.Gln17=)
c.23064A>G (p.Gln7688=)
n.958A>G
c.3045A>G (p.Gln1015=)
n.7971A>G
c.2217A>G (p.Gln739=)
n.7863A>G
n.824A>G
n.341A>G
n.1116A>G
c.24315A>G (p.Gln8105=)
c.24303A>G (p.Gln8101=)
c.24294A>G (p.Gln8098=)
c.24264A>G (p.Gln8088=)
c.24300A>G (p.Gln8100=)
c.24243A>G (p.Gln8081=)
c.24174A>G (p.Gln8058=)
c.24162A>G (p.Gln8054=)
c.24159A>G (p.Gln8053=)
c.24156A>G (p.Gln8052=)
c.24312A>G (p.Gln8104=)
c.24150A>G (p.Gln8050=)
c.22590A>G (p.Gln7530=)
c.22083A>G (p.Gln7361=)
c.17550A>G (p.Gln5850=)
c.885A>G (p.Gln295=)
c.24288A>G (p.Gln8096=)
c.24237A>G (p.Gln8079=)
6g.152151992T>GCA366086887SYNE1c.744A>C (p.Gln248His)
c.24279A>C (p.Gln8093His)
c.24066A>C (p.Gln8022His)
c.14A>C
c.193A>C
c.51A>C (p.Gln17His)
c.23064A>C (p.Gln7688His)
n.958A>C
c.3045A>C (p.Gln1015His)
n.7971A>C
c.2217A>C (p.Gln739His)
n.7863A>C
n.824A>C
n.341A>C
n.1116A>C
c.24315A>C (p.Gln8105His)
c.24303A>C (p.Gln8101His)
c.24294A>C (p.Gln8098His)
c.24264A>C (p.Gln8088His)
c.24300A>C (p.Gln8100His)
c.24243A>C (p.Gln8081His)
c.24174A>C (p.Gln8058His)
c.24162A>C (p.Gln8054His)
c.24159A>C (p.Gln8053His)
c.24156A>C (p.Gln8052His)
c.24312A>C (p.Gln8104His)
c.24150A>C (p.Gln8050His)
c.22590A>C (p.Gln7530His)
c.22083A>C (p.Gln7361His)
c.17550A>C (p.Gln5850His)
c.885A>C (p.Gln295His)
c.24288A>C (p.Gln8096His)
c.24237A>C (p.Gln8079His)
6g.152151993T>ACA366086889SYNE1c.743A>T (p.Gln248Leu)
c.24278A>T (p.Gln8093Leu)
c.24065A>T (p.Gln8022Leu)
c.13A>T
c.192A>T
c.50A>T (p.Gln17Leu)
c.23063A>T (p.Gln7688Leu)
n.957A>T
c.3044A>T (p.Gln1015Leu)
n.7970A>T
c.2216A>T (p.Gln739Leu)
n.7862A>T
n.823A>T
n.340A>T
n.1115A>T
c.24314A>T (p.Gln8105Leu)
c.24302A>T (p.Gln8101Leu)
c.24293A>T (p.Gln8098Leu)
c.24263A>T (p.Gln8088Leu)
c.24299A>T (p.Gln8100Leu)
c.24242A>T (p.Gln8081Leu)
c.24173A>T (p.Gln8058Leu)
c.24161A>T (p.Gln8054Leu)
c.24158A>T (p.Gln8053Leu)
c.24155A>T (p.Gln8052Leu)
c.24311A>T (p.Gln8104Leu)
c.24149A>T (p.Gln8050Leu)
c.22589A>T (p.Gln7530Leu)
c.22082A>T (p.Gln7361Leu)
c.17549A>T (p.Gln5850Leu)
c.884A>T (p.Gln295Leu)
c.24287A>T (p.Gln8096Leu)
c.24236A>T (p.Gln8079Leu)
6g.152151993T>CCA366086890SYNE1c.743A>G (p.Gln248Arg)
c.24278A>G (p.Gln8093Arg)
c.24065A>G (p.Gln8022Arg)
c.13A>G
c.192A>G
c.50A>G (p.Gln17Arg)
c.23063A>G (p.Gln7688Arg)
n.957A>G
c.3044A>G (p.Gln1015Arg)
n.7970A>G
c.2216A>G (p.Gln739Arg)
n.7862A>G
n.823A>G
n.340A>G
n.1115A>G
c.24314A>G (p.Gln8105Arg)
c.24302A>G (p.Gln8101Arg)
c.24293A>G (p.Gln8098Arg)
c.24263A>G (p.Gln8088Arg)
c.24299A>G (p.Gln8100Arg)
c.24242A>G (p.Gln8081Arg)
c.24173A>G (p.Gln8058Arg)
c.24161A>G (p.Gln8054Arg)
c.24158A>G (p.Gln8053Arg)
c.24155A>G (p.Gln8052Arg)
c.24311A>G (p.Gln8104Arg)
c.24149A>G (p.Gln8050Arg)
c.22589A>G (p.Gln7530Arg)
c.22082A>G (p.Gln7361Arg)
c.17549A>G (p.Gln5850Arg)
c.884A>G (p.Gln295Arg)
c.24287A>G (p.Gln8096Arg)
c.24236A>G (p.Gln8079Arg)
6g.152151993T>GCA366086891SYNE1c.743A>C (p.Gln248Pro)
c.24278A>C (p.Gln8093Pro)
c.24065A>C (p.Gln8022Pro)
c.13A>C
c.192A>C
c.50A>C (p.Gln17Pro)
c.23063A>C (p.Gln7688Pro)
n.957A>C
c.3044A>C (p.Gln1015Pro)
n.7970A>C
c.2216A>C (p.Gln739Pro)
n.7862A>C
n.823A>C
n.340A>C
n.1115A>C
c.24314A>C (p.Gln8105Pro)
c.24302A>C (p.Gln8101Pro)
c.24293A>C (p.Gln8098Pro)
c.24263A>C (p.Gln8088Pro)
c.24299A>C (p.Gln8100Pro)
c.24242A>C (p.Gln8081Pro)
c.24173A>C (p.Gln8058Pro)
c.24161A>C (p.Gln8054Pro)
c.24158A>C (p.Gln8053Pro)
c.24155A>C (p.Gln8052Pro)
c.24311A>C (p.Gln8104Pro)
c.24149A>C (p.Gln8050Pro)
c.22589A>C (p.Gln7530Pro)
c.22082A>C (p.Gln7361Pro)
c.17549A>C (p.Gln5850Pro)
c.884A>C (p.Gln295Pro)
c.24287A>C (p.Gln8096Pro)
c.24236A>C (p.Gln8079Pro)
6g.152151994G>ACA366086892SYNE1c.742C>T (p.Gln248Ter)
c.24277C>T (p.Gln8093Ter)
c.24064C>T (p.Gln8022Ter)
c.12C>T
c.191C>T
c.49C>T (p.Gln17Ter)
c.23062C>T (p.Gln7688Ter)
n.956C>T
c.3043C>T (p.Gln1015Ter)
n.7969C>T
c.2215C>T (p.Gln739Ter)
n.7861C>T
n.822C>T
n.339C>T
n.1114C>T
c.24313C>T (p.Gln8105Ter)
c.24301C>T (p.Gln8101Ter)
c.24292C>T (p.Gln8098Ter)
c.24262C>T (p.Gln8088Ter)
c.24298C>T (p.Gln8100Ter)
c.24241C>T (p.Gln8081Ter)
c.24172C>T (p.Gln8058Ter)
c.24160C>T (p.Gln8054Ter)
c.24157C>T (p.Gln8053Ter)
c.24154C>T (p.Gln8052Ter)
c.24310C>T (p.Gln8104Ter)
c.24148C>T (p.Gln8050Ter)
c.22588C>T (p.Gln7530Ter)
c.22081C>T (p.Gln7361Ter)
c.17548C>T (p.Gln5850Ter)
c.883C>T (p.Gln295Ter)
c.24286C>T (p.Gln8096Ter)
c.24235C>T (p.Gln8079Ter)
6g.152151994G>CCA366086893SYNE1c.742C>G (p.Gln248Glu)
c.24277C>G (p.Gln8093Glu)
c.24064C>G (p.Gln8022Glu)
c.12C>G
c.191C>G
c.49C>G (p.Gln17Glu)
c.23062C>G (p.Gln7688Glu)
n.956C>G
c.3043C>G (p.Gln1015Glu)
n.7969C>G
c.2215C>G (p.Gln739Glu)
n.7861C>G
n.822C>G
n.339C>G
n.1114C>G
c.24313C>G (p.Gln8105Glu)
c.24301C>G (p.Gln8101Glu)
c.24292C>G (p.Gln8098Glu)
c.24262C>G (p.Gln8088Glu)
c.24298C>G (p.Gln8100Glu)
c.24241C>G (p.Gln8081Glu)
c.24172C>G (p.Gln8058Glu)
c.24160C>G (p.Gln8054Glu)
c.24157C>G (p.Gln8053Glu)
c.24154C>G (p.Gln8052Glu)
c.24310C>G (p.Gln8104Glu)
c.24148C>G (p.Gln8050Glu)
c.22588C>G (p.Gln7530Glu)
c.22081C>G (p.Gln7361Glu)
c.17548C>G (p.Gln5850Glu)
c.883C>G (p.Gln295Glu)
c.24286C>G (p.Gln8096Glu)
c.24235C>G (p.Gln8079Glu)
6g.152151994G>TCA366086894SYNE1c.742C>A (p.Gln248Lys)
c.24277C>A (p.Gln8093Lys)
c.24064C>A (p.Gln8022Lys)
c.12C>A
c.191C>A
c.49C>A (p.Gln17Lys)
c.23062C>A (p.Gln7688Lys)
n.956C>A
c.3043C>A (p.Gln1015Lys)
n.7969C>A
c.2215C>A (p.Gln739Lys)
n.7861C>A
n.822C>A
n.339C>A
n.1114C>A
c.24313C>A (p.Gln8105Lys)
c.24301C>A (p.Gln8101Lys)
c.24292C>A (p.Gln8098Lys)
c.24262C>A (p.Gln8088Lys)
c.24298C>A (p.Gln8100Lys)
c.24241C>A (p.Gln8081Lys)
c.24172C>A (p.Gln8058Lys)
c.24160C>A (p.Gln8054Lys)
c.24157C>A (p.Gln8053Lys)
c.24154C>A (p.Gln8052Lys)
c.24310C>A (p.Gln8104Lys)
c.24148C>A (p.Gln8050Lys)
c.22588C>A (p.Gln7530Lys)
c.22081C>A (p.Gln7361Lys)
c.17548C>A (p.Gln5850Lys)
c.883C>A (p.Gln295Lys)
c.24286C>A (p.Gln8096Lys)
c.24235C>A (p.Gln8079Lys)
6g.152151995C>ACA452748228SYNE1c.741G>T (p.Leu247=)
c.24276G>T (p.Leu8092=)
c.24063G>T (p.Leu8021=)
c.11G>T
c.190G>T
c.48G>T (p.Leu16=)
c.23061G>T (p.Leu7687=)
n.955G>T
c.3042G>T (p.Leu1014=)
n.7968G>T
c.2214G>T (p.Leu738=)
n.7860G>T
n.821G>T
n.338G>T
n.1113G>T
c.24312G>T (p.Leu8104=)
c.24300G>T (p.Leu8100=)
c.24291G>T (p.Leu8097=)
c.24261G>T (p.Leu8087=)
c.24297G>T (p.Leu8099=)
c.24240G>T (p.Leu8080=)
c.24171G>T (p.Leu8057=)
c.24159G>T (p.Leu8053=)
c.24156G>T (p.Leu8052=)
c.24153G>T (p.Leu8051=)
c.24309G>T (p.Leu8103=)
c.24147G>T (p.Leu8049=)
c.22587G>T (p.Leu7529=)
c.22080G>T (p.Leu7360=)
c.17547G>T (p.Leu5849=)
c.882G>T (p.Leu294=)
c.24285G>T (p.Leu8095=)
c.24234G>T (p.Leu8078=)
6g.152151995C=CA1673186824SYNE1c.741G= (p.Leu247=)
c.24276G= (p.Leu8092=)
c.24063G= (p.Leu8021=)
c.11G=
c.190G=
c.48G= (p.Leu16=)
c.23061G= (p.Leu7687=)
n.955G=
c.3042G= (p.Leu1014=)
n.7968G=
c.2214G= (p.Leu738=)
n.7860G=
n.821G=
n.338G=
n.1113G=
c.24312G= (p.Leu8104=)
c.24300G= (p.Leu8100=)
c.24291G= (p.Leu8097=)
c.24261G= (p.Leu8087=)
c.24297G= (p.Leu8099=)
c.24240G= (p.Leu8080=)
c.24171G= (p.Leu8057=)
c.24159G= (p.Leu8053=)
c.24156G= (p.Leu8052=)
c.24153G= (p.Leu8051=)
c.24309G= (p.Leu8103=)
c.24147G= (p.Leu8049=)
c.22587G= (p.Leu7529=)
c.22080G= (p.Leu7360=)
c.17547G= (p.Leu5849=)
c.882G= (p.Leu294=)
c.24285G= (p.Leu8095=)
c.24234G= (p.Leu8078=)
6g.152151995C>GCA452748229SYNE1c.741G>C (p.Leu247=)
c.24276G>C (p.Leu8092=)
c.24063G>C (p.Leu8021=)
c.11G>C
c.190G>C
c.48G>C (p.Leu16=)
c.23061G>C (p.Leu7687=)
n.955G>C
c.3042G>C (p.Leu1014=)
n.7968G>C
c.2214G>C (p.Leu738=)
n.7860G>C
n.821G>C
n.338G>C
n.1113G>C
c.24312G>C (p.Leu8104=)
c.24300G>C (p.Leu8100=)
c.24291G>C (p.Leu8097=)
c.24261G>C (p.Leu8087=)
c.24297G>C (p.Leu8099=)
c.24240G>C (p.Leu8080=)
c.24171G>C (p.Leu8057=)
c.24159G>C (p.Leu8053=)
c.24156G>C (p.Leu8052=)
c.24153G>C (p.Leu8051=)
c.24309G>C (p.Leu8103=)
c.24147G>C (p.Leu8049=)
c.22587G>C (p.Leu7529=)
c.22080G>C (p.Leu7360=)
c.17547G>C (p.Leu5849=)
c.882G>C (p.Leu294=)
c.24285G>C (p.Leu8095=)
c.24234G>C (p.Leu8078=)
6g.152151995C>TCA452748230SYNE1c.741G>A (p.Leu247=)
c.24276G>A (p.Leu8092=)
c.24063G>A (p.Leu8021=)
c.11G>A
c.190G>A
c.48G>A (p.Leu16=)
c.23061G>A (p.Leu7687=)
n.955G>A
c.3042G>A (p.Leu1014=)
n.7968G>A
c.2214G>A (p.Leu738=)
n.7860G>A
n.821G>A
n.338G>A
n.1113G>A
c.24312G>A (p.Leu8104=)
c.24300G>A (p.Leu8100=)
c.24291G>A (p.Leu8097=)
c.24261G>A (p.Leu8087=)
c.24297G>A (p.Leu8099=)
c.24240G>A (p.Leu8080=)
c.24171G>A (p.Leu8057=)
c.24159G>A (p.Leu8053=)
c.24156G>A (p.Leu8052=)
c.24153G>A (p.Leu8051=)
c.24309G>A (p.Leu8103=)
c.24147G>A (p.Leu8049=)
c.22587G>A (p.Leu7529=)
c.22080G>A (p.Leu7360=)
c.17547G>A (p.Leu5849=)
c.882G>A (p.Leu294=)
c.24285G>A (p.Leu8095=)
c.24234G>A (p.Leu8078=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152151996A>CCA366086895SYNE1c.740T>G (p.Leu247Arg)
c.24275T>G (p.Leu8092Arg)
c.24062T>G (p.Leu8021Arg)
c.10T>G
c.189T>G
c.47T>G (p.Leu16Arg)
c.23060T>G (p.Leu7687Arg)
n.954T>G
c.3041T>G (p.Leu1014Arg)
n.7967T>G
c.2213T>G (p.Leu738Arg)
n.7859T>G
n.820T>G
n.337T>G
n.1112T>G
c.24311T>G (p.Leu8104Arg)
c.24299T>G (p.Leu8100Arg)
c.24290T>G (p.Leu8097Arg)
c.24260T>G (p.Leu8087Arg)
c.24296T>G (p.Leu8099Arg)
c.24239T>G (p.Leu8080Arg)
c.24170T>G (p.Leu8057Arg)
c.24158T>G (p.Leu8053Arg)
c.24155T>G (p.Leu8052Arg)
c.24152T>G (p.Leu8051Arg)
c.24308T>G (p.Leu8103Arg)
c.24146T>G (p.Leu8049Arg)
c.22586T>G (p.Leu7529Arg)
c.22079T>G (p.Leu7360Arg)
c.17546T>G (p.Leu5849Arg)
c.881T>G (p.Leu294Arg)
c.24284T>G (p.Leu8095Arg)
c.24233T>G (p.Leu8078Arg)
6g.152151996A>GCA366086896SYNE1c.740T>C (p.Leu247Pro)
c.24275T>C (p.Leu8092Pro)
c.24062T>C (p.Leu8021Pro)
c.10T>C
c.189T>C
c.47T>C (p.Leu16Pro)
c.23060T>C (p.Leu7687Pro)
n.954T>C
c.3041T>C (p.Leu1014Pro)
n.7967T>C
c.2213T>C (p.Leu738Pro)
n.7859T>C
n.820T>C
n.337T>C
n.1112T>C
c.24311T>C (p.Leu8104Pro)
c.24299T>C (p.Leu8100Pro)
c.24290T>C (p.Leu8097Pro)
c.24260T>C (p.Leu8087Pro)
c.24296T>C (p.Leu8099Pro)
c.24239T>C (p.Leu8080Pro)
c.24170T>C (p.Leu8057Pro)
c.24158T>C (p.Leu8053Pro)
c.24155T>C (p.Leu8052Pro)
c.24152T>C (p.Leu8051Pro)
c.24308T>C (p.Leu8103Pro)
c.24146T>C (p.Leu8049Pro)
c.22586T>C (p.Leu7529Pro)
c.22079T>C (p.Leu7360Pro)
c.17546T>C (p.Leu5849Pro)
c.881T>C (p.Leu294Pro)
c.24284T>C (p.Leu8095Pro)
c.24233T>C (p.Leu8078Pro)
6g.152151996A>TCA366086897SYNE1c.740T>A (p.Leu247Gln)
c.24275T>A (p.Leu8092Gln)
c.24062T>A (p.Leu8021Gln)
c.10T>A
c.189T>A
c.47T>A (p.Leu16Gln)
c.23060T>A (p.Leu7687Gln)
n.954T>A
c.3041T>A (p.Leu1014Gln)
n.7967T>A
c.2213T>A (p.Leu738Gln)
n.7859T>A
n.820T>A
n.337T>A
n.1112T>A
c.24311T>A (p.Leu8104Gln)
c.24299T>A (p.Leu8100Gln)
c.24290T>A (p.Leu8097Gln)
c.24260T>A (p.Leu8087Gln)
c.24296T>A (p.Leu8099Gln)
c.24239T>A (p.Leu8080Gln)
c.24170T>A (p.Leu8057Gln)
c.24158T>A (p.Leu8053Gln)
c.24155T>A (p.Leu8052Gln)
c.24152T>A (p.Leu8051Gln)
c.24308T>A (p.Leu8103Gln)
c.24146T>A (p.Leu8049Gln)
c.22586T>A (p.Leu7529Gln)
c.22079T>A (p.Leu7360Gln)
c.17546T>A (p.Leu5849Gln)
c.881T>A (p.Leu294Gln)
c.24284T>A (p.Leu8095Gln)
c.24233T>A (p.Leu8078Gln)
6g.152151997G>ACA452748232SYNE1c.739C>T (p.Leu247=)
c.24274C>T (p.Leu8092=)
c.24061C>T (p.Leu8021=)
c.9C>T
c.188C>T
c.46C>T (p.Leu16=)
c.23059C>T (p.Leu7687=)
n.953C>T
c.3040C>T (p.Leu1014=)
n.7966C>T
c.2212C>T (p.Leu738=)
n.7858C>T
n.819C>T
n.336C>T
n.1111C>T
c.24310C>T (p.Leu8104=)
c.24298C>T (p.Leu8100=)
c.24289C>T (p.Leu8097=)
c.24259C>T (p.Leu8087=)
c.24295C>T (p.Leu8099=)
c.24238C>T (p.Leu8080=)
c.24169C>T (p.Leu8057=)
c.24157C>T (p.Leu8053=)
c.24154C>T (p.Leu8052=)
c.24151C>T (p.Leu8051=)
c.24307C>T (p.Leu8103=)
c.24145C>T (p.Leu8049=)
c.22585C>T (p.Leu7529=)
c.22078C>T (p.Leu7360=)
c.17545C>T (p.Leu5849=)
c.880C>T (p.Leu294=)
c.24283C>T (p.Leu8095=)
c.24232C>T (p.Leu8078=)
 ClinVar dbSNP
6g.152151997G>CCA366086898SYNE1c.739C>G (p.Leu247Val)
c.24274C>G (p.Leu8092Val)
c.24061C>G (p.Leu8021Val)
c.9C>G
c.188C>G
c.46C>G (p.Leu16Val)
c.23059C>G (p.Leu7687Val)
n.953C>G
c.3040C>G (p.Leu1014Val)
n.7966C>G
c.2212C>G (p.Leu738Val)
n.7858C>G
n.819C>G
n.336C>G
n.1111C>G
c.24310C>G (p.Leu8104Val)
c.24298C>G (p.Leu8100Val)
c.24289C>G (p.Leu8097Val)
c.24259C>G (p.Leu8087Val)
c.24295C>G (p.Leu8099Val)
c.24238C>G (p.Leu8080Val)
c.24169C>G (p.Leu8057Val)
c.24157C>G (p.Leu8053Val)
c.24154C>G (p.Leu8052Val)
c.24151C>G (p.Leu8051Val)
c.24307C>G (p.Leu8103Val)
c.24145C>G (p.Leu8049Val)
c.22585C>G (p.Leu7529Val)
c.22078C>G (p.Leu7360Val)
c.17545C>G (p.Leu5849Val)
c.880C>G (p.Leu294Val)
c.24283C>G (p.Leu8095Val)
c.24232C>G (p.Leu8078Val)
6g.152151997G>TCA366086899SYNE1c.739C>A (p.Leu247Met)
c.24274C>A (p.Leu8092Met)
c.24061C>A (p.Leu8021Met)
c.9C>A
c.188C>A
c.46C>A (p.Leu16Met)
c.23059C>A (p.Leu7687Met)
n.953C>A
c.3040C>A (p.Leu1014Met)
n.7966C>A
c.2212C>A (p.Leu738Met)
n.7858C>A
n.819C>A
n.336C>A
n.1111C>A
c.24310C>A (p.Leu8104Met)
c.24298C>A (p.Leu8100Met)
c.24289C>A (p.Leu8097Met)
c.24259C>A (p.Leu8087Met)
c.24295C>A (p.Leu8099Met)
c.24238C>A (p.Leu8080Met)
c.24169C>A (p.Leu8057Met)
c.24157C>A (p.Leu8053Met)
c.24154C>A (p.Leu8052Met)
c.24151C>A (p.Leu8051Met)
c.24307C>A (p.Leu8103Met)
c.24145C>A (p.Leu8049Met)
c.22585C>A (p.Leu7529Met)
c.22078C>A (p.Leu7360Met)
c.17545C>A (p.Leu5849Met)
c.880C>A (p.Leu294Met)
c.24283C>A (p.Leu8095Met)
c.24232C>A (p.Leu8078Met)
6g.152151998G>ACA4053229SYNE1c.738C>T (p.Asn246=)
c.24273C>T (p.Asn8091=)
c.24060C>T (p.Asn8020=)
c.8C>T
c.187C>T
c.45C>T (p.Asn15=)
c.23058C>T (p.Asn7686=)
n.952C>T
c.3039C>T (p.Asn1013=)
n.7965C>T
c.2211C>T (p.Asn737=)
n.7857C>T
n.818C>T
n.335C>T
n.1110C>T
c.24309C>T (p.Asn8103=)
c.24297C>T (p.Asn8099=)
c.24288C>T (p.Asn8096=)
c.24258C>T (p.Asn8086=)
c.24294C>T (p.Asn8098=)
c.24237C>T (p.Asn8079=)
c.24168C>T (p.Asn8056=)
c.24156C>T (p.Asn8052=)
c.24153C>T (p.Asn8051=)
c.24150C>T (p.Asn8050=)
c.24306C>T (p.Asn8102=)
c.24144C>T (p.Asn8048=)
c.22584C>T (p.Asn7528=)
c.22077C>T (p.Asn7359=)
c.17544C>T (p.Asn5848=)
c.879C>T (p.Asn293=)
c.24282C>T (p.Asn8094=)
c.24231C>T (p.Asn8077=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151998G>CCA366086900SYNE1c.738C>G (p.Asn246Lys)
c.24273C>G (p.Asn8091Lys)
c.24060C>G (p.Asn8020Lys)
c.8C>G
c.187C>G
c.45C>G (p.Asn15Lys)
c.23058C>G (p.Asn7686Lys)
n.952C>G
c.3039C>G (p.Asn1013Lys)
n.7965C>G
c.2211C>G (p.Asn737Lys)
n.7857C>G
n.818C>G
n.335C>G
n.1110C>G
c.24309C>G (p.Asn8103Lys)
c.24297C>G (p.Asn8099Lys)
c.24288C>G (p.Asn8096Lys)
c.24258C>G (p.Asn8086Lys)
c.24294C>G (p.Asn8098Lys)
c.24237C>G (p.Asn8079Lys)
c.24168C>G (p.Asn8056Lys)
c.24156C>G (p.Asn8052Lys)
c.24153C>G (p.Asn8051Lys)
c.24150C>G (p.Asn8050Lys)
c.24306C>G (p.Asn8102Lys)
c.24144C>G (p.Asn8048Lys)
c.22584C>G (p.Asn7528Lys)
c.22077C>G (p.Asn7359Lys)
c.17544C>G (p.Asn5848Lys)
c.879C>G (p.Asn293Lys)
c.24282C>G (p.Asn8094Lys)
c.24231C>G (p.Asn8077Lys)
6g.152151998G=CA1673186827SYNE1c.738C= (p.Asn246=)
c.24273C= (p.Asn8091=)
c.24060C= (p.Asn8020=)
c.8C=
c.187C=
c.45C= (p.Asn15=)
c.23058C= (p.Asn7686=)
n.952C=
c.3039C= (p.Asn1013=)
n.7965C=
c.2211C= (p.Asn737=)
n.7857C=
n.818C=
n.335C=
n.1110C=
c.24309C= (p.Asn8103=)
c.24297C= (p.Asn8099=)
c.24288C= (p.Asn8096=)
c.24258C= (p.Asn8086=)
c.24294C= (p.Asn8098=)
c.24237C= (p.Asn8079=)
c.24168C= (p.Asn8056=)
c.24156C= (p.Asn8052=)
c.24153C= (p.Asn8051=)
c.24150C= (p.Asn8050=)
c.24306C= (p.Asn8102=)
c.24144C= (p.Asn8048=)
c.22584C= (p.Asn7528=)
c.22077C= (p.Asn7359=)
c.17544C= (p.Asn5848=)
c.879C= (p.Asn293=)
c.24282C= (p.Asn8094=)
c.24231C= (p.Asn8077=)
6g.152151998G>TCA4053230SYNE1c.738C>A (p.Asn246Lys)
c.24273C>A (p.Asn8091Lys)
c.24060C>A (p.Asn8020Lys)
c.8C>A
c.187C>A
c.45C>A (p.Asn15Lys)
c.23058C>A (p.Asn7686Lys)
n.952C>A
c.3039C>A (p.Asn1013Lys)
n.7965C>A
c.2211C>A (p.Asn737Lys)
n.7857C>A
n.818C>A
n.335C>A
n.1110C>A
c.24309C>A (p.Asn8103Lys)
c.24297C>A (p.Asn8099Lys)
c.24288C>A (p.Asn8096Lys)
c.24258C>A (p.Asn8086Lys)
c.24294C>A (p.Asn8098Lys)
c.24237C>A (p.Asn8079Lys)
c.24168C>A (p.Asn8056Lys)
c.24156C>A (p.Asn8052Lys)
c.24153C>A (p.Asn8051Lys)
c.24150C>A (p.Asn8050Lys)
c.24306C>A (p.Asn8102Lys)
c.24144C>A (p.Asn8048Lys)
c.22584C>A (p.Asn7528Lys)
c.22077C>A (p.Asn7359Lys)
c.17544C>A (p.Asn5848Lys)
c.879C>A (p.Asn293Lys)
c.24282C>A (p.Asn8094Lys)
c.24231C>A (p.Asn8077Lys)
 dbSNP ExAC gnomAD v2
6g.152151999T>ACA4053231SYNE1c.737A>T (p.Asn246Ile)
c.24272A>T (p.Asn8091Ile)
c.24059A>T (p.Asn8020Ile)
c.7A>T
c.186A>T
c.44A>T (p.Asn15Ile)
c.23057A>T (p.Asn7686Ile)
n.951A>T
c.3038A>T (p.Asn1013Ile)
n.7964A>T
c.2210A>T (p.Asn737Ile)
n.7856A>T
n.817A>T
n.334A>T
n.1109A>T
c.24308A>T (p.Asn8103Ile)
c.24296A>T (p.Asn8099Ile)
c.24287A>T (p.Asn8096Ile)
c.24257A>T (p.Asn8086Ile)
c.24293A>T (p.Asn8098Ile)
c.24236A>T (p.Asn8079Ile)
c.24167A>T (p.Asn8056Ile)
c.24155A>T (p.Asn8052Ile)
c.24152A>T (p.Asn8051Ile)
c.24149A>T (p.Asn8050Ile)
c.24305A>T (p.Asn8102Ile)
c.24143A>T (p.Asn8048Ile)
c.22583A>T (p.Asn7528Ile)
c.22076A>T (p.Asn7359Ile)
c.17543A>T (p.Asn5848Ile)
c.878A>T (p.Asn293Ile)
c.24281A>T (p.Asn8094Ile)
c.24230A>T (p.Asn8077Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152151999T>CCA366086902SYNE1c.737A>G (p.Asn246Ser)
c.24272A>G (p.Asn8091Ser)
c.24059A>G (p.Asn8020Ser)
c.7A>G
c.186A>G
c.44A>G (p.Asn15Ser)
c.23057A>G (p.Asn7686Ser)
n.951A>G
c.3038A>G (p.Asn1013Ser)
n.7964A>G
c.2210A>G (p.Asn737Ser)
n.7856A>G
n.817A>G
n.334A>G
n.1109A>G
c.24308A>G (p.Asn8103Ser)
c.24296A>G (p.Asn8099Ser)
c.24287A>G (p.Asn8096Ser)
c.24257A>G (p.Asn8086Ser)
c.24293A>G (p.Asn8098Ser)
c.24236A>G (p.Asn8079Ser)
c.24167A>G (p.Asn8056Ser)
c.24155A>G (p.Asn8052Ser)
c.24152A>G (p.Asn8051Ser)
c.24149A>G (p.Asn8050Ser)
c.24305A>G (p.Asn8102Ser)
c.24143A>G (p.Asn8048Ser)
c.22583A>G (p.Asn7528Ser)
c.22076A>G (p.Asn7359Ser)
c.17543A>G (p.Asn5848Ser)
c.878A>G (p.Asn293Ser)
c.24281A>G (p.Asn8094Ser)
c.24230A>G (p.Asn8077Ser)
6g.152151999T>GCA366086901SYNE1c.737A>C (p.Asn246Thr)
c.24272A>C (p.Asn8091Thr)
c.24059A>C (p.Asn8020Thr)
c.7A>C
c.186A>C
c.44A>C (p.Asn15Thr)
c.23057A>C (p.Asn7686Thr)
n.951A>C
c.3038A>C (p.Asn1013Thr)
n.7964A>C
c.2210A>C (p.Asn737Thr)
n.7856A>C
n.817A>C
n.334A>C
n.1109A>C
c.24308A>C (p.Asn8103Thr)
c.24296A>C (p.Asn8099Thr)
c.24287A>C (p.Asn8096Thr)
c.24257A>C (p.Asn8086Thr)
c.24293A>C (p.Asn8098Thr)
c.24236A>C (p.Asn8079Thr)
c.24167A>C (p.Asn8056Thr)
c.24155A>C (p.Asn8052Thr)
c.24152A>C (p.Asn8051Thr)
c.24149A>C (p.Asn8050Thr)
c.24305A>C (p.Asn8102Thr)
c.24143A>C (p.Asn8048Thr)
c.22583A>C (p.Asn7528Thr)
c.22076A>C (p.Asn7359Thr)
c.17543A>C (p.Asn5848Thr)
c.878A>C (p.Asn293Thr)
c.24281A>C (p.Asn8094Thr)
c.24230A>C (p.Asn8077Thr)
6g.152151999T=CA1673186830SYNE1c.737A= (p.Asn246=)
c.24272A= (p.Asn8091=)
c.24059A= (p.Asn8020=)
c.7A=
c.186A=
c.44A= (p.Asn15=)
c.23057A= (p.Asn7686=)
n.951A=
c.3038A= (p.Asn1013=)
n.7964A=
c.2210A= (p.Asn737=)
n.7856A=
n.817A=
n.334A=
n.1109A=
c.24308A= (p.Asn8103=)
c.24296A= (p.Asn8099=)
c.24287A= (p.Asn8096=)
c.24257A= (p.Asn8086=)
c.24293A= (p.Asn8098=)
c.24236A= (p.Asn8079=)
c.24167A= (p.Asn8056=)
c.24155A= (p.Asn8052=)
c.24152A= (p.Asn8051=)
c.24149A= (p.Asn8050=)
c.24305A= (p.Asn8102=)
c.24143A= (p.Asn8048=)
c.22583A= (p.Asn7528=)
c.22076A= (p.Asn7359=)
c.17543A= (p.Asn5848=)
c.878A= (p.Asn293=)
c.24281A= (p.Asn8094=)
c.24230A= (p.Asn8077=)
6g.152152000T>ACA366086903SYNE1c.736A>T (p.Asn246Tyr)
c.24271A>T (p.Asn8091Tyr)
c.24058A>T (p.Asn8020Tyr)
c.6A>T
c.185A>T
c.43A>T (p.Asn15Tyr)
c.23056A>T (p.Asn7686Tyr)
n.950A>T
c.3037A>T (p.Asn1013Tyr)
n.7963A>T
c.2209A>T (p.Asn737Tyr)
n.7855A>T
n.816A>T
n.333A>T
n.1108A>T
c.24307A>T (p.Asn8103Tyr)
c.24295A>T (p.Asn8099Tyr)
c.24286A>T (p.Asn8096Tyr)
c.24256A>T (p.Asn8086Tyr)
c.24292A>T (p.Asn8098Tyr)
c.24235A>T (p.Asn8079Tyr)
c.24166A>T (p.Asn8056Tyr)
c.24154A>T (p.Asn8052Tyr)
c.24151A>T (p.Asn8051Tyr)
c.24148A>T (p.Asn8050Tyr)
c.24304A>T (p.Asn8102Tyr)
c.24142A>T (p.Asn8048Tyr)
c.22582A>T (p.Asn7528Tyr)
c.22075A>T (p.Asn7359Tyr)
c.17542A>T (p.Asn5848Tyr)
c.877A>T (p.Asn293Tyr)
c.24280A>T (p.Asn8094Tyr)
c.24229A>T (p.Asn8077Tyr)
6g.152152000T>CCA366086904SYNE1c.736A>G (p.Asn246Asp)
c.24271A>G (p.Asn8091Asp)
c.24058A>G (p.Asn8020Asp)
c.6A>G
c.185A>G
c.43A>G (p.Asn15Asp)
c.23056A>G (p.Asn7686Asp)
n.950A>G
c.3037A>G (p.Asn1013Asp)
n.7963A>G
c.2209A>G (p.Asn737Asp)
n.7855A>G
n.816A>G
n.333A>G
n.1108A>G
c.24307A>G (p.Asn8103Asp)
c.24295A>G (p.Asn8099Asp)
c.24286A>G (p.Asn8096Asp)
c.24256A>G (p.Asn8086Asp)
c.24292A>G (p.Asn8098Asp)
c.24235A>G (p.Asn8079Asp)
c.24166A>G (p.Asn8056Asp)
c.24154A>G (p.Asn8052Asp)
c.24151A>G (p.Asn8051Asp)
c.24148A>G (p.Asn8050Asp)
c.24304A>G (p.Asn8102Asp)
c.24142A>G (p.Asn8048Asp)
c.22582A>G (p.Asn7528Asp)
c.22075A>G (p.Asn7359Asp)
c.17542A>G (p.Asn5848Asp)
c.877A>G (p.Asn293Asp)
c.24280A>G (p.Asn8094Asp)
c.24229A>G (p.Asn8077Asp)
 dbSNP gnomAD v4
6g.152152000T>GCA366086905SYNE1c.736A>C (p.Asn246His)
c.24271A>C (p.Asn8091His)
c.24058A>C (p.Asn8020His)
c.6A>C
c.185A>C
c.43A>C (p.Asn15His)
c.23056A>C (p.Asn7686His)
n.950A>C
c.3037A>C (p.Asn1013His)
n.7963A>C
c.2209A>C (p.Asn737His)
n.7855A>C
n.816A>C
n.333A>C
n.1108A>C
c.24307A>C (p.Asn8103His)
c.24295A>C (p.Asn8099His)
c.24286A>C (p.Asn8096His)
c.24256A>C (p.Asn8086His)
c.24292A>C (p.Asn8098His)
c.24235A>C (p.Asn8079His)
c.24166A>C (p.Asn8056His)
c.24154A>C (p.Asn8052His)
c.24151A>C (p.Asn8051His)
c.24148A>C (p.Asn8050His)
c.24304A>C (p.Asn8102His)
c.24142A>C (p.Asn8048His)
c.22582A>C (p.Asn7528His)
c.22075A>C (p.Asn7359His)
c.17542A>C (p.Asn5848His)
c.877A>C (p.Asn293His)
c.24280A>C (p.Asn8094His)
c.24229A>C (p.Asn8077His)
6g.152152000T=CA1673186834SYNE1c.736A= (p.Asn246=)
c.24271A= (p.Asn8091=)
c.24058A= (p.Asn8020=)
c.6A=
c.185A=
c.43A= (p.Asn15=)
c.23056A= (p.Asn7686=)
n.950A=
c.3037A= (p.Asn1013=)
n.7963A=
c.2209A= (p.Asn737=)
n.7855A=
n.816A=
n.333A=
n.1108A=
c.24307A= (p.Asn8103=)
c.24295A= (p.Asn8099=)
c.24286A= (p.Asn8096=)
c.24256A= (p.Asn8086=)
c.24292A= (p.Asn8098=)
c.24235A= (p.Asn8079=)
c.24166A= (p.Asn8056=)
c.24154A= (p.Asn8052=)
c.24151A= (p.Asn8051=)
c.24148A= (p.Asn8050=)
c.24304A= (p.Asn8102=)
c.24142A= (p.Asn8048=)
c.22582A= (p.Asn7528=)
c.22075A= (p.Asn7359=)
c.17542A= (p.Asn5848=)
c.877A= (p.Asn293=)
c.24280A= (p.Asn8094=)
c.24229A= (p.Asn8077=)
6g.152152001G>ACA452748233SYNE1c.735C>T (p.Asp245=)
c.24270C>T (p.Asp8090=)
c.24057C>T (p.Asp8019=)
c.5C>T
c.184C>T
c.42C>T (p.Asp14=)
c.23055C>T (p.Asp7685=)
n.949C>T
c.3036C>T (p.Asp1012=)
n.7962C>T
c.2208C>T (p.Asp736=)
n.7854C>T
n.815C>T
n.332C>T
n.1107C>T
c.24306C>T (p.Asp8102=)
c.24294C>T (p.Asp8098=)
c.24285C>T (p.Asp8095=)
c.24255C>T (p.Asp8085=)
c.24291C>T (p.Asp8097=)
c.24234C>T (p.Asp8078=)
c.24165C>T (p.Asp8055=)
c.24153C>T (p.Asp8051=)
c.24150C>T (p.Asp8050=)
c.24147C>T (p.Asp8049=)
c.24303C>T (p.Asp8101=)
c.24141C>T (p.Asp8047=)
c.22581C>T (p.Asp7527=)
c.22074C>T (p.Asp7358=)
c.17541C>T (p.Asp5847=)
c.876C>T (p.Asp292=)
c.24279C>T (p.Asp8093=)
c.24228C>T (p.Asp8076=)
6g.152152001G>CCA366086906SYNE1c.735C>G (p.Asp245Glu)
c.24270C>G (p.Asp8090Glu)
c.24057C>G (p.Asp8019Glu)
c.5C>G
c.184C>G
c.42C>G (p.Asp14Glu)
c.23055C>G (p.Asp7685Glu)
n.949C>G
c.3036C>G (p.Asp1012Glu)
n.7962C>G
c.2208C>G (p.Asp736Glu)
n.7854C>G
n.815C>G
n.332C>G
n.1107C>G
c.24306C>G (p.Asp8102Glu)
c.24294C>G (p.Asp8098Glu)
c.24285C>G (p.Asp8095Glu)
c.24255C>G (p.Asp8085Glu)
c.24291C>G (p.Asp8097Glu)
c.24234C>G (p.Asp8078Glu)
c.24165C>G (p.Asp8055Glu)
c.24153C>G (p.Asp8051Glu)
c.24150C>G (p.Asp8050Glu)
c.24147C>G (p.Asp8049Glu)
c.24303C>G (p.Asp8101Glu)
c.24141C>G (p.Asp8047Glu)
c.22581C>G (p.Asp7527Glu)
c.22074C>G (p.Asp7358Glu)
c.17541C>G (p.Asp5847Glu)
c.876C>G (p.Asp292Glu)
c.24279C>G (p.Asp8093Glu)
c.24228C>G (p.Asp8076Glu)
6g.152152001G=CA1673186837SYNE1c.735C= (p.Asp245=)
c.24270C= (p.Asp8090=)
c.24057C= (p.Asp8019=)
c.5C=
c.184C=
c.42C= (p.Asp14=)
c.23055C= (p.Asp7685=)
n.949C=
c.3036C= (p.Asp1012=)
n.7962C=
c.2208C= (p.Asp736=)
n.7854C=
n.815C=
n.332C=
n.1107C=
c.24306C= (p.Asp8102=)
c.24294C= (p.Asp8098=)
c.24285C= (p.Asp8095=)
c.24255C= (p.Asp8085=)
c.24291C= (p.Asp8097=)
c.24234C= (p.Asp8078=)
c.24165C= (p.Asp8055=)
c.24153C= (p.Asp8051=)
c.24150C= (p.Asp8050=)
c.24147C= (p.Asp8049=)
c.24303C= (p.Asp8101=)
c.24141C= (p.Asp8047=)
c.22581C= (p.Asp7527=)
c.22074C= (p.Asp7358=)
c.17541C= (p.Asp5847=)
c.876C= (p.Asp292=)
c.24279C= (p.Asp8093=)
c.24228C= (p.Asp8076=)
6g.152152001G>TCA150176431SYNE1c.735C>A (p.Asp245Glu)
c.24270C>A (p.Asp8090Glu)
c.24057C>A (p.Asp8019Glu)
c.5C>A
c.184C>A
c.42C>A (p.Asp14Glu)
c.23055C>A (p.Asp7685Glu)
n.949C>A
c.3036C>A (p.Asp1012Glu)
n.7962C>A
c.2208C>A (p.Asp736Glu)
n.7854C>A
n.815C>A
n.332C>A
n.1107C>A
c.24306C>A (p.Asp8102Glu)
c.24294C>A (p.Asp8098Glu)
c.24285C>A (p.Asp8095Glu)
c.24255C>A (p.Asp8085Glu)
c.24291C>A (p.Asp8097Glu)
c.24234C>A (p.Asp8078Glu)
c.24165C>A (p.Asp8055Glu)
c.24153C>A (p.Asp8051Glu)
c.24150C>A (p.Asp8050Glu)
c.24147C>A (p.Asp8049Glu)
c.24303C>A (p.Asp8101Glu)
c.24141C>A (p.Asp8047Glu)
c.22581C>A (p.Asp7527Glu)
c.22074C>A (p.Asp7358Glu)
c.17541C>A (p.Asp5847Glu)
c.876C>A (p.Asp292Glu)
c.24279C>A (p.Asp8093Glu)
c.24228C>A (p.Asp8076Glu)
 dbSNP
6g.152152002T>ACA366086907SYNE1c.734A>T (p.Asp245Val)
c.24269A>T (p.Asp8090Val)
c.24056A>T (p.Asp8019Val)
c.4A>T
c.183A>T
c.41A>T (p.Asp14Val)
c.23054A>T (p.Asp7685Val)
n.948A>T
c.3035A>T (p.Asp1012Val)
n.7961A>T
c.2207A>T (p.Asp736Val)
n.7853A>T
n.814A>T
n.331A>T
n.1106A>T
c.24305A>T (p.Asp8102Val)
c.24293A>T (p.Asp8098Val)
c.24284A>T (p.Asp8095Val)
c.24254A>T (p.Asp8085Val)
c.24290A>T (p.Asp8097Val)
c.24233A>T (p.Asp8078Val)
c.24164A>T (p.Asp8055Val)
c.24152A>T (p.Asp8051Val)
c.24149A>T (p.Asp8050Val)
c.24146A>T (p.Asp8049Val)
c.24302A>T (p.Asp8101Val)
c.24140A>T (p.Asp8047Val)
c.22580A>T (p.Asp7527Val)
c.22073A>T (p.Asp7358Val)
c.17540A>T (p.Asp5847Val)
c.875A>T (p.Asp292Val)
c.24278A>T (p.Asp8093Val)
c.24227A>T (p.Asp8076Val)
6g.152152002T>CCA150176433SYNE1c.734A>G (p.Asp245Gly)
c.24269A>G (p.Asp8090Gly)
c.24056A>G (p.Asp8019Gly)
c.4A>G
c.183A>G
c.41A>G (p.Asp14Gly)
c.23054A>G (p.Asp7685Gly)
n.948A>G
c.3035A>G (p.Asp1012Gly)
n.7961A>G
c.2207A>G (p.Asp736Gly)
n.7853A>G
n.814A>G
n.331A>G
n.1106A>G
c.24305A>G (p.Asp8102Gly)
c.24293A>G (p.Asp8098Gly)
c.24284A>G (p.Asp8095Gly)
c.24254A>G (p.Asp8085Gly)
c.24290A>G (p.Asp8097Gly)
c.24233A>G (p.Asp8078Gly)
c.24164A>G (p.Asp8055Gly)
c.24152A>G (p.Asp8051Gly)
c.24149A>G (p.Asp8050Gly)
c.24146A>G (p.Asp8049Gly)
c.24302A>G (p.Asp8101Gly)
c.24140A>G (p.Asp8047Gly)
c.22580A>G (p.Asp7527Gly)
c.22073A>G (p.Asp7358Gly)
c.17540A>G (p.Asp5847Gly)
c.875A>G (p.Asp292Gly)
c.24278A>G (p.Asp8093Gly)
c.24227A>G (p.Asp8076Gly)
 dbSNP gnomAD v4
6g.152152002T>GCA366086908SYNE1c.734A>C (p.Asp245Ala)
c.24269A>C (p.Asp8090Ala)
c.24056A>C (p.Asp8019Ala)
c.4A>C
c.183A>C
c.41A>C (p.Asp14Ala)
c.23054A>C (p.Asp7685Ala)
n.948A>C
c.3035A>C (p.Asp1012Ala)
n.7961A>C
c.2207A>C (p.Asp736Ala)
n.7853A>C
n.814A>C
n.331A>C
n.1106A>C
c.24305A>C (p.Asp8102Ala)
c.24293A>C (p.Asp8098Ala)
c.24284A>C (p.Asp8095Ala)
c.24254A>C (p.Asp8085Ala)
c.24290A>C (p.Asp8097Ala)
c.24233A>C (p.Asp8078Ala)
c.24164A>C (p.Asp8055Ala)
c.24152A>C (p.Asp8051Ala)
c.24149A>C (p.Asp8050Ala)
c.24146A>C (p.Asp8049Ala)
c.24302A>C (p.Asp8101Ala)
c.24140A>C (p.Asp8047Ala)
c.22580A>C (p.Asp7527Ala)
c.22073A>C (p.Asp7358Ala)
c.17540A>C (p.Asp5847Ala)
c.875A>C (p.Asp292Ala)
c.24278A>C (p.Asp8093Ala)
c.24227A>C (p.Asp8076Ala)
6g.152152002T=CA1673186843SYNE1c.734A= (p.Asp245=)
c.24269A= (p.Asp8090=)
c.24056A= (p.Asp8019=)
c.4A=
c.183A=
c.41A= (p.Asp14=)
c.23054A= (p.Asp7685=)
n.948A=
c.3035A= (p.Asp1012=)
n.7961A=
c.2207A= (p.Asp736=)
n.7853A=
n.814A=
n.331A=
n.1106A=
c.24305A= (p.Asp8102=)
c.24293A= (p.Asp8098=)
c.24284A= (p.Asp8095=)
c.24254A= (p.Asp8085=)
c.24290A= (p.Asp8097=)
c.24233A= (p.Asp8078=)
c.24164A= (p.Asp8055=)
c.24152A= (p.Asp8051=)
c.24149A= (p.Asp8050=)
c.24146A= (p.Asp8049=)
c.24302A= (p.Asp8101=)
c.24140A= (p.Asp8047=)
c.22580A= (p.Asp7527=)
c.22073A= (p.Asp7358=)
c.17540A= (p.Asp5847=)
c.875A= (p.Asp292=)
c.24278A= (p.Asp8093=)
c.24227A= (p.Asp8076=)
6g.152152003C>ACA366086909SYNE1c.733G>T (p.Asp245Tyr)
c.24268G>T (p.Asp8090Tyr)
c.24055G>T (p.Asp8019Tyr)
c.3G>T
c.182G>T
c.40G>T (p.Asp14Tyr)
c.23053G>T (p.Asp7685Tyr)
n.947G>T
c.3034G>T (p.Asp1012Tyr)
n.7960G>T
c.2206G>T (p.Asp736Tyr)
n.7852G>T
n.813G>T
n.330G>T
n.1105G>T
c.24304G>T (p.Asp8102Tyr)
c.24292G>T (p.Asp8098Tyr)
c.24283G>T (p.Asp8095Tyr)
c.24253G>T (p.Asp8085Tyr)
c.24289G>T (p.Asp8097Tyr)
c.24232G>T (p.Asp8078Tyr)
c.24163G>T (p.Asp8055Tyr)
c.24151G>T (p.Asp8051Tyr)
c.24148G>T (p.Asp8050Tyr)
c.24145G>T (p.Asp8049Tyr)
c.24301G>T (p.Asp8101Tyr)
c.24139G>T (p.Asp8047Tyr)
c.22579G>T (p.Asp7527Tyr)
c.22072G>T (p.Asp7358Tyr)
c.17539G>T (p.Asp5847Tyr)
c.874G>T (p.Asp292Tyr)
c.24277G>T (p.Asp8093Tyr)
c.24226G>T (p.Asp8076Tyr)
 gnomAD v4
6g.152152003C>GCA366086910SYNE1c.733G>C (p.Asp245His)
c.24268G>C (p.Asp8090His)
c.24055G>C (p.Asp8019His)
c.3G>C
c.182G>C
c.40G>C (p.Asp14His)
c.23053G>C (p.Asp7685His)
n.947G>C
c.3034G>C (p.Asp1012His)
n.7960G>C
c.2206G>C (p.Asp736His)
n.7852G>C
n.813G>C
n.330G>C
n.1105G>C
c.24304G>C (p.Asp8102His)
c.24292G>C (p.Asp8098His)
c.24283G>C (p.Asp8095His)
c.24253G>C (p.Asp8085His)
c.24289G>C (p.Asp8097His)
c.24232G>C (p.Asp8078His)
c.24163G>C (p.Asp8055His)
c.24151G>C (p.Asp8051His)
c.24148G>C (p.Asp8050His)
c.24145G>C (p.Asp8049His)
c.24301G>C (p.Asp8101His)
c.24139G>C (p.Asp8047His)
c.22579G>C (p.Asp7527His)
c.22072G>C (p.Asp7358His)
c.17539G>C (p.Asp5847His)
c.874G>C (p.Asp292His)
c.24277G>C (p.Asp8093His)
c.24226G>C (p.Asp8076His)
6g.152152003C>TCA366086911SYNE1c.733G>A (p.Asp245Asn)
c.24268G>A (p.Asp8090Asn)
c.24055G>A (p.Asp8019Asn)
c.3G>A
c.182G>A
c.40G>A (p.Asp14Asn)
c.23053G>A (p.Asp7685Asn)
n.947G>A
c.3034G>A (p.Asp1012Asn)
n.7960G>A
c.2206G>A (p.Asp736Asn)
n.7852G>A
n.813G>A
n.330G>A
n.1105G>A
c.24304G>A (p.Asp8102Asn)
c.24292G>A (p.Asp8098Asn)
c.24283G>A (p.Asp8095Asn)
c.24253G>A (p.Asp8085Asn)
c.24289G>A (p.Asp8097Asn)
c.24232G>A (p.Asp8078Asn)
c.24163G>A (p.Asp8055Asn)
c.24151G>A (p.Asp8051Asn)
c.24148G>A (p.Asp8050Asn)
c.24145G>A (p.Asp8049Asn)
c.24301G>A (p.Asp8101Asn)
c.24139G>A (p.Asp8047Asn)
c.22579G>A (p.Asp7527Asn)
c.22072G>A (p.Asp7358Asn)
c.17539G>A (p.Asp5847Asn)
c.874G>A (p.Asp292Asn)
c.24277G>A (p.Asp8093Asn)
c.24226G>A (p.Asp8076Asn)
 gnomAD v4
6g.152152004C>ACA366086912SYNE1c.732G>T (p.Trp244Cys)
c.24267G>T (p.Trp8089Cys)
c.24054G>T (p.Trp8018Cys)
c.2G>T
c.181G>T
c.39G>T (p.Trp13Cys)
c.23052G>T (p.Trp7684Cys)
n.946G>T
c.3033G>T (p.Trp1011Cys)
n.7959G>T
c.2205G>T (p.Trp735Cys)
n.7851G>T
n.812G>T
n.329G>T
n.1104G>T
c.24303G>T (p.Trp8101Cys)
c.24291G>T (p.Trp8097Cys)
c.24282G>T (p.Trp8094Cys)
c.24252G>T (p.Trp8084Cys)
c.24288G>T (p.Trp8096Cys)
c.24231G>T (p.Trp8077Cys)
c.24162G>T (p.Trp8054Cys)
c.24150G>T (p.Trp8050Cys)
c.24147G>T (p.Trp8049Cys)
c.24144G>T (p.Trp8048Cys)
c.24300G>T (p.Trp8100Cys)
c.24138G>T (p.Trp8046Cys)
c.22578G>T (p.Trp7526Cys)
c.22071G>T (p.Trp7357Cys)
c.17538G>T (p.Trp5846Cys)
c.873G>T (p.Trp291Cys)
c.24276G>T (p.Trp8092Cys)
c.24225G>T (p.Trp8075Cys)
6g.152152004C>GCA366086913SYNE1c.732G>C (p.Trp244Cys)
c.24267G>C (p.Trp8089Cys)
c.24054G>C (p.Trp8018Cys)
c.2G>C
c.181G>C
c.39G>C (p.Trp13Cys)
c.23052G>C (p.Trp7684Cys)
n.946G>C
c.3033G>C (p.Trp1011Cys)
n.7959G>C
c.2205G>C (p.Trp735Cys)
n.7851G>C
n.812G>C
n.329G>C
n.1104G>C
c.24303G>C (p.Trp8101Cys)
c.24291G>C (p.Trp8097Cys)
c.24282G>C (p.Trp8094Cys)
c.24252G>C (p.Trp8084Cys)
c.24288G>C (p.Trp8096Cys)
c.24231G>C (p.Trp8077Cys)
c.24162G>C (p.Trp8054Cys)
c.24150G>C (p.Trp8050Cys)
c.24147G>C (p.Trp8049Cys)
c.24144G>C (p.Trp8048Cys)
c.24300G>C (p.Trp8100Cys)
c.24138G>C (p.Trp8046Cys)
c.22578G>C (p.Trp7526Cys)
c.22071G>C (p.Trp7357Cys)
c.17538G>C (p.Trp5846Cys)
c.873G>C (p.Trp291Cys)
c.24276G>C (p.Trp8092Cys)
c.24225G>C (p.Trp8075Cys)
6g.152152004C>TCA366086914SYNE1c.732G>A (p.Trp244Ter)
c.24267G>A (p.Trp8089Ter)
c.24054G>A (p.Trp8018Ter)
c.2G>A
c.181G>A
c.39G>A (p.Trp13Ter)
c.23052G>A (p.Trp7684Ter)
n.946G>A
c.3033G>A (p.Trp1011Ter)
n.7959G>A
c.2205G>A (p.Trp735Ter)
n.7851G>A
n.812G>A
n.329G>A
n.1104G>A
c.24303G>A (p.Trp8101Ter)
c.24291G>A (p.Trp8097Ter)
c.24282G>A (p.Trp8094Ter)
c.24252G>A (p.Trp8084Ter)
c.24288G>A (p.Trp8096Ter)
c.24231G>A (p.Trp8077Ter)
c.24162G>A (p.Trp8054Ter)
c.24150G>A (p.Trp8050Ter)
c.24147G>A (p.Trp8049Ter)
c.24144G>A (p.Trp8048Ter)
c.24300G>A (p.Trp8100Ter)
c.24138G>A (p.Trp8046Ter)
c.22578G>A (p.Trp7526Ter)
c.22071G>A (p.Trp7357Ter)
c.17538G>A (p.Trp5846Ter)
c.873G>A (p.Trp291Ter)
c.24276G>A (p.Trp8092Ter)
c.24225G>A (p.Trp8075Ter)
 gnomAD v4
6g.152152005C>ACA366086917SYNE1c.731G>T (p.Trp244Leu)
c.24266G>T (p.Trp8089Leu)
c.24053G>T (p.Trp8018Leu)
c.1G>T
c.180G>T
c.38G>T (p.Trp13Leu)
c.23051G>T (p.Trp7684Leu)
n.945G>T
c.3032G>T (p.Trp1011Leu)
n.7958G>T
c.2204G>T (p.Trp735Leu)
n.7850G>T
n.811G>T
n.328G>T
n.1103G>T
c.24302G>T (p.Trp8101Leu)
c.24290G>T (p.Trp8097Leu)
c.24281G>T (p.Trp8094Leu)
c.24251G>T (p.Trp8084Leu)
c.24287G>T (p.Trp8096Leu)
c.24230G>T (p.Trp8077Leu)
c.24161G>T (p.Trp8054Leu)
c.24149G>T (p.Trp8050Leu)
c.24146G>T (p.Trp8049Leu)
c.24143G>T (p.Trp8048Leu)
c.24299G>T (p.Trp8100Leu)
c.24137G>T (p.Trp8046Leu)
c.22577G>T (p.Trp7526Leu)
c.22070G>T (p.Trp7357Leu)
c.17537G>T (p.Trp5846Leu)
c.872G>T (p.Trp291Leu)
c.24275G>T (p.Trp8092Leu)
c.24224G>T (p.Trp8075Leu)
6g.152152005C>GCA366086916SYNE1c.731G>C (p.Trp244Ser)
c.24266G>C (p.Trp8089Ser)
c.24053G>C (p.Trp8018Ser)
c.1G>C
c.180G>C
c.38G>C (p.Trp13Ser)
c.23051G>C (p.Trp7684Ser)
n.945G>C
c.3032G>C (p.Trp1011Ser)
n.7958G>C
c.2204G>C (p.Trp735Ser)
n.7850G>C
n.811G>C
n.328G>C
n.1103G>C
c.24302G>C (p.Trp8101Ser)
c.24290G>C (p.Trp8097Ser)
c.24281G>C (p.Trp8094Ser)
c.24251G>C (p.Trp8084Ser)
c.24287G>C (p.Trp8096Ser)
c.24230G>C (p.Trp8077Ser)
c.24161G>C (p.Trp8054Ser)
c.24149G>C (p.Trp8050Ser)
c.24146G>C (p.Trp8049Ser)
c.24143G>C (p.Trp8048Ser)
c.24299G>C (p.Trp8100Ser)
c.24137G>C (p.Trp8046Ser)
c.22577G>C (p.Trp7526Ser)
c.22070G>C (p.Trp7357Ser)
c.17537G>C (p.Trp5846Ser)
c.872G>C (p.Trp291Ser)
c.24275G>C (p.Trp8092Ser)
c.24224G>C (p.Trp8075Ser)
6g.152152005C>TCA366086915SYNE1c.731G>A (p.Trp244Ter)
c.24266G>A (p.Trp8089Ter)
c.24053G>A (p.Trp8018Ter)
c.1G>A
c.180G>A
c.38G>A (p.Trp13Ter)
c.23051G>A (p.Trp7684Ter)
n.945G>A
c.3032G>A (p.Trp1011Ter)
n.7958G>A
c.2204G>A (p.Trp735Ter)
n.7850G>A
n.811G>A
n.328G>A
n.1103G>A
c.24302G>A (p.Trp8101Ter)
c.24290G>A (p.Trp8097Ter)
c.24281G>A (p.Trp8094Ter)
c.24251G>A (p.Trp8084Ter)
c.24287G>A (p.Trp8096Ter)
c.24230G>A (p.Trp8077Ter)
c.24161G>A (p.Trp8054Ter)
c.24149G>A (p.Trp8050Ter)
c.24146G>A (p.Trp8049Ter)
c.24143G>A (p.Trp8048Ter)
c.24299G>A (p.Trp8100Ter)
c.24137G>A (p.Trp8046Ter)
c.22577G>A (p.Trp7526Ter)
c.22070G>A (p.Trp7357Ter)
c.17537G>A (p.Trp5846Ter)
c.872G>A (p.Trp291Ter)
c.24275G>A (p.Trp8092Ter)
c.24224G>A (p.Trp8075Ter)
6g.152152006A=CA1673186847SYNE1c.730T= (p.Trp244=)
c.24265T= (p.Trp8089=)
c.24052T= (p.Trp8018=)
c.179T=
c.37T= (p.Trp13=)
c.23050T= (p.Trp7684=)
n.944T=
c.3031T= (p.Trp1011=)
n.7957T=
c.2203T= (p.Trp735=)
n.7849T=
n.810T=
n.327T=
n.1102T=
c.24301T= (p.Trp8101=)
c.24289T= (p.Trp8097=)
c.24280T= (p.Trp8094=)
c.24250T= (p.Trp8084=)
c.24286T= (p.Trp8096=)
c.24229T= (p.Trp8077=)
c.24160T= (p.Trp8054=)
c.24148T= (p.Trp8050=)
c.24145T= (p.Trp8049=)
c.24142T= (p.Trp8048=)
c.24298T= (p.Trp8100=)
c.24136T= (p.Trp8046=)
c.22576T= (p.Trp7526=)
c.22069T= (p.Trp7357=)
c.17536T= (p.Trp5846=)
c.871T= (p.Trp291=)
c.24274T= (p.Trp8092=)
c.24223T= (p.Trp8075=)
6g.152152006A>CCA366086918SYNE1c.730T>G (p.Trp244Gly)
c.24265T>G (p.Trp8089Gly)
c.24052T>G (p.Trp8018Gly)
c.179T>G
c.37T>G (p.Trp13Gly)
c.23050T>G (p.Trp7684Gly)
n.944T>G
c.3031T>G (p.Trp1011Gly)
n.7957T>G
c.2203T>G (p.Trp735Gly)
n.7849T>G
n.810T>G
n.327T>G
n.1102T>G
c.24301T>G (p.Trp8101Gly)
c.24289T>G (p.Trp8097Gly)
c.24280T>G (p.Trp8094Gly)
c.24250T>G (p.Trp8084Gly)
c.24286T>G (p.Trp8096Gly)
c.24229T>G (p.Trp8077Gly)
c.24160T>G (p.Trp8054Gly)
c.24148T>G (p.Trp8050Gly)
c.24145T>G (p.Trp8049Gly)
c.24142T>G (p.Trp8048Gly)
c.24298T>G (p.Trp8100Gly)
c.24136T>G (p.Trp8046Gly)
c.22576T>G (p.Trp7526Gly)
c.22069T>G (p.Trp7357Gly)
c.17536T>G (p.Trp5846Gly)
c.871T>G (p.Trp291Gly)
c.24274T>G (p.Trp8092Gly)
c.24223T>G (p.Trp8075Gly)
6g.152152006A>GCA366086919SYNE1c.730T>C (p.Trp244Arg)
c.24265T>C (p.Trp8089Arg)
c.24052T>C (p.Trp8018Arg)
c.179T>C
c.37T>C (p.Trp13Arg)
c.23050T>C (p.Trp7684Arg)
n.944T>C
c.3031T>C (p.Trp1011Arg)
n.7957T>C
c.2203T>C (p.Trp735Arg)
n.7849T>C
n.810T>C
n.327T>C
n.1102T>C
c.24301T>C (p.Trp8101Arg)
c.24289T>C (p.Trp8097Arg)
c.24280T>C (p.Trp8094Arg)
c.24250T>C (p.Trp8084Arg)
c.24286T>C (p.Trp8096Arg)
c.24229T>C (p.Trp8077Arg)
c.24160T>C (p.Trp8054Arg)
c.24148T>C (p.Trp8050Arg)
c.24145T>C (p.Trp8049Arg)
c.24142T>C (p.Trp8048Arg)
c.24298T>C (p.Trp8100Arg)
c.24136T>C (p.Trp8046Arg)
c.22576T>C (p.Trp7526Arg)
c.22069T>C (p.Trp7357Arg)
c.17536T>C (p.Trp5846Arg)
c.871T>C (p.Trp291Arg)
c.24274T>C (p.Trp8092Arg)
c.24223T>C (p.Trp8075Arg)
 dbSNP
6g.152152006A>TCA366086920SYNE1c.730T>A (p.Trp244Arg)
c.24265T>A (p.Trp8089Arg)
c.24052T>A (p.Trp8018Arg)
c.179T>A
c.37T>A (p.Trp13Arg)
c.23050T>A (p.Trp7684Arg)
n.944T>A
c.3031T>A (p.Trp1011Arg)
n.7957T>A
c.2203T>A (p.Trp735Arg)
n.7849T>A
n.810T>A
n.327T>A
n.1102T>A
c.24301T>A (p.Trp8101Arg)
c.24289T>A (p.Trp8097Arg)
c.24280T>A (p.Trp8094Arg)
c.24250T>A (p.Trp8084Arg)
c.24286T>A (p.Trp8096Arg)
c.24229T>A (p.Trp8077Arg)
c.24160T>A (p.Trp8054Arg)
c.24148T>A (p.Trp8050Arg)
c.24145T>A (p.Trp8049Arg)
c.24142T>A (p.Trp8048Arg)
c.24298T>A (p.Trp8100Arg)
c.24136T>A (p.Trp8046Arg)
c.22576T>A (p.Trp7526Arg)
c.22069T>A (p.Trp7357Arg)
c.17536T>A (p.Trp5846Arg)
c.871T>A (p.Trp291Arg)
c.24274T>A (p.Trp8092Arg)
c.24223T>A (p.Trp8075Arg)
6g.152152007T>ACA366086921SYNE1c.729A>T (p.Arg243Ser)
c.24264A>T (p.Arg8088Ser)
c.24051A>T (p.Arg8017Ser)
c.178A>T
c.36A>T (p.Arg12Ser)
c.23049A>T (p.Arg7683Ser)
n.943A>T
c.3030A>T (p.Arg1010Ser)
n.7956A>T
c.2202A>T (p.Arg734Ser)
n.7848A>T
n.809A>T
n.326A>T
n.1101A>T
c.24300A>T (p.Arg8100Ser)
c.24288A>T (p.Arg8096Ser)
c.24279A>T (p.Arg8093Ser)
c.24249A>T (p.Arg8083Ser)
c.24285A>T (p.Arg8095Ser)
c.24228A>T (p.Arg8076Ser)
c.24159A>T (p.Arg8053Ser)
c.24147A>T (p.Arg8049Ser)
c.24144A>T (p.Arg8048Ser)
c.24141A>T (p.Arg8047Ser)
c.24297A>T (p.Arg8099Ser)
c.24135A>T (p.Arg8045Ser)
c.22575A>T (p.Arg7525Ser)
c.22068A>T (p.Arg7356Ser)
c.17535A>T (p.Arg5845Ser)
c.870A>T (p.Arg290Ser)
c.24273A>T (p.Arg8091Ser)
c.24222A>T (p.Arg8074Ser)
6g.152152007T>CCA452748242SYNE1c.729A>G (p.Arg243=)
c.24264A>G (p.Arg8088=)
c.24051A>G (p.Arg8017=)
c.178A>G
c.36A>G (p.Arg12=)
c.23049A>G (p.Arg7683=)
n.943A>G
c.3030A>G (p.Arg1010=)
n.7956A>G
c.2202A>G (p.Arg734=)
n.7848A>G
n.809A>G
n.326A>G
n.1101A>G
c.24300A>G (p.Arg8100=)
c.24288A>G (p.Arg8096=)
c.24279A>G (p.Arg8093=)
c.24249A>G (p.Arg8083=)
c.24285A>G (p.Arg8095=)
c.24228A>G (p.Arg8076=)
c.24159A>G (p.Arg8053=)
c.24147A>G (p.Arg8049=)
c.24144A>G (p.Arg8048=)
c.24141A>G (p.Arg8047=)
c.24297A>G (p.Arg8099=)
c.24135A>G (p.Arg8045=)
c.22575A>G (p.Arg7525=)
c.22068A>G (p.Arg7356=)
c.17535A>G (p.Arg5845=)
c.870A>G (p.Arg290=)
c.24273A>G (p.Arg8091=)
c.24222A>G (p.Arg8074=)
 gnomAD v4
6g.152152007T>GCA366086922SYNE1c.729A>C (p.Arg243Ser)
c.24264A>C (p.Arg8088Ser)
c.24051A>C (p.Arg8017Ser)
c.178A>C
c.36A>C (p.Arg12Ser)
c.23049A>C (p.Arg7683Ser)
n.943A>C
c.3030A>C (p.Arg1010Ser)
n.7956A>C
c.2202A>C (p.Arg734Ser)
n.7848A>C
n.809A>C
n.326A>C
n.1101A>C
c.24300A>C (p.Arg8100Ser)
c.24288A>C (p.Arg8096Ser)
c.24279A>C (p.Arg8093Ser)
c.24249A>C (p.Arg8083Ser)
c.24285A>C (p.Arg8095Ser)
c.24228A>C (p.Arg8076Ser)
c.24159A>C (p.Arg8053Ser)
c.24147A>C (p.Arg8049Ser)
c.24144A>C (p.Arg8048Ser)
c.24141A>C (p.Arg8047Ser)
c.24297A>C (p.Arg8099Ser)
c.24135A>C (p.Arg8045Ser)
c.22575A>C (p.Arg7525Ser)
c.22068A>C (p.Arg7356Ser)
c.17535A>C (p.Arg5845Ser)
c.870A>C (p.Arg290Ser)
c.24273A>C (p.Arg8091Ser)
c.24222A>C (p.Arg8074Ser)
6g.152152008C>ACA366086923SYNE1c.728G>T (p.Arg243Ile)
c.24263G>T (p.Arg8088Ile)
c.24050G>T (p.Arg8017Ile)
c.177G>T
c.35G>T (p.Arg12Ile)
c.23048G>T (p.Arg7683Ile)
n.942G>T
c.3029G>T (p.Arg1010Ile)
n.7955G>T
c.2201G>T (p.Arg734Ile)
n.7847G>T
n.808G>T
n.325G>T
n.1100G>T
c.24299G>T (p.Arg8100Ile)
c.24287G>T (p.Arg8096Ile)
c.24278G>T (p.Arg8093Ile)
c.24248G>T (p.Arg8083Ile)
c.24284G>T (p.Arg8095Ile)
c.24227G>T (p.Arg8076Ile)
c.24158G>T (p.Arg8053Ile)
c.24146G>T (p.Arg8049Ile)
c.24143G>T (p.Arg8048Ile)
c.24140G>T (p.Arg8047Ile)
c.24296G>T (p.Arg8099Ile)
c.24134G>T (p.Arg8045Ile)
c.22574G>T (p.Arg7525Ile)
c.22067G>T (p.Arg7356Ile)
c.17534G>T (p.Arg5845Ile)
c.869G>T (p.Arg290Ile)
c.24272G>T (p.Arg8091Ile)
c.24221G>T (p.Arg8074Ile)
6g.152152008C>GCA366086924SYNE1c.728G>C (p.Arg243Thr)
c.24263G>C (p.Arg8088Thr)
c.24050G>C (p.Arg8017Thr)
c.177G>C
c.35G>C (p.Arg12Thr)
c.23048G>C (p.Arg7683Thr)
n.942G>C
c.3029G>C (p.Arg1010Thr)
n.7955G>C
c.2201G>C (p.Arg734Thr)
n.7847G>C
n.808G>C
n.325G>C
n.1100G>C
c.24299G>C (p.Arg8100Thr)
c.24287G>C (p.Arg8096Thr)
c.24278G>C (p.Arg8093Thr)
c.24248G>C (p.Arg8083Thr)
c.24284G>C (p.Arg8095Thr)
c.24227G>C (p.Arg8076Thr)
c.24158G>C (p.Arg8053Thr)
c.24146G>C (p.Arg8049Thr)
c.24143G>C (p.Arg8048Thr)
c.24140G>C (p.Arg8047Thr)
c.24296G>C (p.Arg8099Thr)
c.24134G>C (p.Arg8045Thr)
c.22574G>C (p.Arg7525Thr)
c.22067G>C (p.Arg7356Thr)
c.17534G>C (p.Arg5845Thr)
c.869G>C (p.Arg290Thr)
c.24272G>C (p.Arg8091Thr)
c.24221G>C (p.Arg8074Thr)
6g.152152008C>TCA366086925SYNE1c.728G>A (p.Arg243Lys)
c.24263G>A (p.Arg8088Lys)
c.24050G>A (p.Arg8017Lys)
c.177G>A
c.35G>A (p.Arg12Lys)
c.23048G>A (p.Arg7683Lys)
n.942G>A
c.3029G>A (p.Arg1010Lys)
n.7955G>A
c.2201G>A (p.Arg734Lys)
n.7847G>A
n.808G>A
n.325G>A
n.1100G>A
c.24299G>A (p.Arg8100Lys)
c.24287G>A (p.Arg8096Lys)
c.24278G>A (p.Arg8093Lys)
c.24248G>A (p.Arg8083Lys)
c.24284G>A (p.Arg8095Lys)
c.24227G>A (p.Arg8076Lys)
c.24158G>A (p.Arg8053Lys)
c.24146G>A (p.Arg8049Lys)
c.24143G>A (p.Arg8048Lys)
c.24140G>A (p.Arg8047Lys)
c.24296G>A (p.Arg8099Lys)
c.24134G>A (p.Arg8045Lys)
c.22574G>A (p.Arg7525Lys)
c.22067G>A (p.Arg7356Lys)
c.17534G>A (p.Arg5845Lys)
c.869G>A (p.Arg290Lys)
c.24272G>A (p.Arg8091Lys)
c.24221G>A (p.Arg8074Lys)
 ClinVar
6g.152152009T>ACA366086926SYNE1c.727A>T (p.Arg243Ter)
c.24262A>T (p.Arg8088Ter)
c.24049A>T (p.Arg8017Ter)
c.176A>T
c.34A>T (p.Arg12Ter)
c.23047A>T (p.Arg7683Ter)
n.941A>T
c.3028A>T (p.Arg1010Ter)
n.7954A>T
c.2200A>T (p.Arg734Ter)
n.7846A>T
n.807A>T
n.324A>T
n.1099A>T
c.24298A>T (p.Arg8100Ter)
c.24286A>T (p.Arg8096Ter)
c.24277A>T (p.Arg8093Ter)
c.24247A>T (p.Arg8083Ter)
c.24283A>T (p.Arg8095Ter)
c.24226A>T (p.Arg8076Ter)
c.24157A>T (p.Arg8053Ter)
c.24145A>T (p.Arg8049Ter)
c.24142A>T (p.Arg8048Ter)
c.24139A>T (p.Arg8047Ter)
c.24295A>T (p.Arg8099Ter)
c.24133A>T (p.Arg8045Ter)
c.22573A>T (p.Arg7525Ter)
c.22066A>T (p.Arg7356Ter)
c.17533A>T (p.Arg5845Ter)
c.868A>T (p.Arg290Ter)
c.24271A>T (p.Arg8091Ter)
c.24220A>T (p.Arg8074Ter)
6g.152152009T>CCA366086927SYNE1c.727A>G (p.Arg243Gly)
c.24262A>G (p.Arg8088Gly)
c.24049A>G (p.Arg8017Gly)
c.176A>G
c.34A>G (p.Arg12Gly)
c.23047A>G (p.Arg7683Gly)
n.941A>G
c.3028A>G (p.Arg1010Gly)
n.7954A>G
c.2200A>G (p.Arg734Gly)
n.7846A>G
n.807A>G
n.324A>G
n.1099A>G
c.24298A>G (p.Arg8100Gly)
c.24286A>G (p.Arg8096Gly)
c.24277A>G (p.Arg8093Gly)
c.24247A>G (p.Arg8083Gly)
c.24283A>G (p.Arg8095Gly)
c.24226A>G (p.Arg8076Gly)
c.24157A>G (p.Arg8053Gly)
c.24145A>G (p.Arg8049Gly)
c.24142A>G (p.Arg8048Gly)
c.24139A>G (p.Arg8047Gly)
c.24295A>G (p.Arg8099Gly)
c.24133A>G (p.Arg8045Gly)
c.22573A>G (p.Arg7525Gly)
c.22066A>G (p.Arg7356Gly)
c.17533A>G (p.Arg5845Gly)
c.868A>G (p.Arg290Gly)
c.24271A>G (p.Arg8091Gly)
c.24220A>G (p.Arg8074Gly)
 gnomAD v4
6g.152152009T>GCA452748245SYNE1c.727A>C (p.Arg243=)
c.24262A>C (p.Arg8088=)
c.24049A>C (p.Arg8017=)
c.176A>C
c.34A>C (p.Arg12=)
c.23047A>C (p.Arg7683=)
n.941A>C
c.3028A>C (p.Arg1010=)
n.7954A>C
c.2200A>C (p.Arg734=)
n.7846A>C
n.807A>C
n.324A>C
n.1099A>C
c.24298A>C (p.Arg8100=)
c.24286A>C (p.Arg8096=)
c.24277A>C (p.Arg8093=)
c.24247A>C (p.Arg8083=)
c.24283A>C (p.Arg8095=)
c.24226A>C (p.Arg8076=)
c.24157A>C (p.Arg8053=)
c.24145A>C (p.Arg8049=)
c.24142A>C (p.Arg8048=)
c.24139A>C (p.Arg8047=)
c.24295A>C (p.Arg8099=)
c.24133A>C (p.Arg8045=)
c.22573A>C (p.Arg7525=)
c.22066A>C (p.Arg7356=)
c.17533A>C (p.Arg5845=)
c.868A>C (p.Arg290=)
c.24271A>C (p.Arg8091=)
c.24220A>C (p.Arg8074=)
6g.152152010C>ACA366086928SYNE1c.726G>T (p.Gln242His)
c.24261G>T (p.Gln8087His)
c.24048G>T (p.Gln8016His)
c.175G>T
c.33G>T (p.Gln11His)
c.23046G>T (p.Gln7682His)
n.940G>T
c.3027G>T (p.Gln1009His)
n.7953G>T
c.2199G>T (p.Gln733His)
n.7845G>T
n.806G>T
n.323G>T
n.1098G>T
c.24297G>T (p.Gln8099His)
c.24285G>T (p.Gln8095His)
c.24276G>T (p.Gln8092His)
c.24246G>T (p.Gln8082His)
c.24282G>T (p.Gln8094His)
c.24225G>T (p.Gln8075His)
c.24156G>T (p.Gln8052His)
c.24144G>T (p.Gln8048His)
c.24141G>T (p.Gln8047His)
c.24138G>T (p.Gln8046His)
c.24294G>T (p.Gln8098His)
c.24132G>T (p.Gln8044His)
c.22572G>T (p.Gln7524His)
c.22065G>T (p.Gln7355His)
c.17532G>T (p.Gln5844His)
c.867G>T (p.Gln289His)
c.24270G>T (p.Gln8090His)
c.24219G>T (p.Gln8073His)
6g.152152010C=CA1673186855SYNE1c.726G= (p.Gln242=)
c.24261G= (p.Gln8087=)
c.24048G= (p.Gln8016=)
c.175G=
c.33G= (p.Gln11=)
c.23046G= (p.Gln7682=)
n.940G=
c.3027G= (p.Gln1009=)
n.7953G=
c.2199G= (p.Gln733=)
n.7845G=
n.806G=
n.323G=
n.1098G=
c.24297G= (p.Gln8099=)
c.24285G= (p.Gln8095=)
c.24276G= (p.Gln8092=)
c.24246G= (p.Gln8082=)
c.24282G= (p.Gln8094=)
c.24225G= (p.Gln8075=)
c.24156G= (p.Gln8052=)
c.24144G= (p.Gln8048=)
c.24141G= (p.Gln8047=)
c.24138G= (p.Gln8046=)
c.24294G= (p.Gln8098=)
c.24132G= (p.Gln8044=)
c.22572G= (p.Gln7524=)
c.22065G= (p.Gln7355=)
c.17532G= (p.Gln5844=)
c.867G= (p.Gln289=)
c.24270G= (p.Gln8090=)
c.24219G= (p.Gln8073=)
6g.152152010C>GCA150176438SYNE1c.726G>C (p.Gln242His)
c.24261G>C (p.Gln8087His)
c.24048G>C (p.Gln8016His)
c.175G>C
c.33G>C (p.Gln11His)
c.23046G>C (p.Gln7682His)
n.940G>C
c.3027G>C (p.Gln1009His)
n.7953G>C
c.2199G>C (p.Gln733His)
n.7845G>C
n.806G>C
n.323G>C
n.1098G>C
c.24297G>C (p.Gln8099His)
c.24285G>C (p.Gln8095His)
c.24276G>C (p.Gln8092His)
c.24246G>C (p.Gln8082His)
c.24282G>C (p.Gln8094His)
c.24225G>C (p.Gln8075His)
c.24156G>C (p.Gln8052His)
c.24144G>C (p.Gln8048His)
c.24141G>C (p.Gln8047His)
c.24138G>C (p.Gln8046His)
c.24294G>C (p.Gln8098His)
c.24132G>C (p.Gln8044His)
c.22572G>C (p.Gln7524His)
c.22065G>C (p.Gln7355His)
c.17532G>C (p.Gln5844His)
c.867G>C (p.Gln289His)
c.24270G>C (p.Gln8090His)
c.24219G>C (p.Gln8073His)
 dbSNP gnomAD v4
6g.152152010C>TCA452748246SYNE1c.726G>A (p.Gln242=)
c.24261G>A (p.Gln8087=)
c.24048G>A (p.Gln8016=)
c.175G>A
c.33G>A (p.Gln11=)
c.23046G>A (p.Gln7682=)
n.940G>A
c.3027G>A (p.Gln1009=)
n.7953G>A
c.2199G>A (p.Gln733=)
n.7845G>A
n.806G>A
n.323G>A
n.1098G>A
c.24297G>A (p.Gln8099=)
c.24285G>A (p.Gln8095=)
c.24276G>A (p.Gln8092=)
c.24246G>A (p.Gln8082=)
c.24282G>A (p.Gln8094=)
c.24225G>A (p.Gln8075=)
c.24156G>A (p.Gln8052=)
c.24144G>A (p.Gln8048=)
c.24141G>A (p.Gln8047=)
c.24138G>A (p.Gln8046=)
c.24294G>A (p.Gln8098=)
c.24132G>A (p.Gln8044=)
c.22572G>A (p.Gln7524=)
c.22065G>A (p.Gln7355=)
c.17532G>A (p.Gln5844=)
c.867G>A (p.Gln289=)
c.24270G>A (p.Gln8090=)
c.24219G>A (p.Gln8073=)
6g.152152011T>ACA366086929SYNE1c.725A>T (p.Gln242Leu)
c.24260A>T (p.Gln8087Leu)
c.24047A>T (p.Gln8016Leu)
c.174A>T
c.32A>T (p.Gln11Leu)
c.23045A>T (p.Gln7682Leu)
n.939A>T
c.3026A>T (p.Gln1009Leu)
n.7952A>T
c.2198A>T (p.Gln733Leu)
n.7844A>T
n.805A>T
n.322A>T
n.1097A>T
c.24296A>T (p.Gln8099Leu)
c.24284A>T (p.Gln8095Leu)
c.24275A>T (p.Gln8092Leu)
c.24245A>T (p.Gln8082Leu)
c.24281A>T (p.Gln8094Leu)
c.24224A>T (p.Gln8075Leu)
c.24155A>T (p.Gln8052Leu)
c.24143A>T (p.Gln8048Leu)
c.24140A>T (p.Gln8047Leu)
c.24137A>T (p.Gln8046Leu)
c.24293A>T (p.Gln8098Leu)
c.24131A>T (p.Gln8044Leu)
c.22571A>T (p.Gln7524Leu)
c.22064A>T (p.Gln7355Leu)
c.17531A>T (p.Gln5844Leu)
c.866A>T (p.Gln289Leu)
c.24269A>T (p.Gln8090Leu)
c.24218A>T (p.Gln8073Leu)
6g.152152011T>CCA366086930SYNE1c.725A>G (p.Gln242Arg)
c.24260A>G (p.Gln8087Arg)
c.24047A>G (p.Gln8016Arg)
c.174A>G
c.32A>G (p.Gln11Arg)
c.23045A>G (p.Gln7682Arg)
n.939A>G
c.3026A>G (p.Gln1009Arg)
n.7952A>G
c.2198A>G (p.Gln733Arg)
n.7844A>G
n.805A>G
n.322A>G
n.1097A>G
c.24296A>G (p.Gln8099Arg)
c.24284A>G (p.Gln8095Arg)
c.24275A>G (p.Gln8092Arg)
c.24245A>G (p.Gln8082Arg)
c.24281A>G (p.Gln8094Arg)
c.24224A>G (p.Gln8075Arg)
c.24155A>G (p.Gln8052Arg)
c.24143A>G (p.Gln8048Arg)
c.24140A>G (p.Gln8047Arg)
c.24137A>G (p.Gln8046Arg)
c.24293A>G (p.Gln8098Arg)
c.24131A>G (p.Gln8044Arg)
c.22571A>G (p.Gln7524Arg)
c.22064A>G (p.Gln7355Arg)
c.17531A>G (p.Gln5844Arg)
c.866A>G (p.Gln289Arg)
c.24269A>G (p.Gln8090Arg)
c.24218A>G (p.Gln8073Arg)
6g.152152011T>GCA366086931SYNE1c.725A>C (p.Gln242Pro)
c.24260A>C (p.Gln8087Pro)
c.24047A>C (p.Gln8016Pro)
c.174A>C
c.32A>C (p.Gln11Pro)
c.23045A>C (p.Gln7682Pro)
n.939A>C
c.3026A>C (p.Gln1009Pro)
n.7952A>C
c.2198A>C (p.Gln733Pro)
n.7844A>C
n.805A>C
n.322A>C
n.1097A>C
c.24296A>C (p.Gln8099Pro)
c.24284A>C (p.Gln8095Pro)
c.24275A>C (p.Gln8092Pro)
c.24245A>C (p.Gln8082Pro)
c.24281A>C (p.Gln8094Pro)
c.24224A>C (p.Gln8075Pro)
c.24155A>C (p.Gln8052Pro)
c.24143A>C (p.Gln8048Pro)
c.24140A>C (p.Gln8047Pro)
c.24137A>C (p.Gln8046Pro)
c.24293A>C (p.Gln8098Pro)
c.24131A>C (p.Gln8044Pro)
c.22571A>C (p.Gln7524Pro)
c.22064A>C (p.Gln7355Pro)
c.17531A>C (p.Gln5844Pro)
c.866A>C (p.Gln289Pro)
c.24269A>C (p.Gln8090Pro)
c.24218A>C (p.Gln8073Pro)
6g.152152012G>ACA366086932SYNE1c.724C>T (p.Gln242Ter)
c.24259C>T (p.Gln8087Ter)
c.24046C>T (p.Gln8016Ter)
c.173C>T
c.31C>T (p.Gln11Ter)
c.23044C>T (p.Gln7682Ter)
n.938C>T
c.3025C>T (p.Gln1009Ter)
n.7951C>T
c.2197C>T (p.Gln733Ter)
n.7843C>T
n.804C>T
n.321C>T
n.1096C>T
c.24295C>T (p.Gln8099Ter)
c.24283C>T (p.Gln8095Ter)
c.24274C>T (p.Gln8092Ter)
c.24244C>T (p.Gln8082Ter)
c.24280C>T (p.Gln8094Ter)
c.24223C>T (p.Gln8075Ter)
c.24154C>T (p.Gln8052Ter)
c.24142C>T (p.Gln8048Ter)
c.24139C>T (p.Gln8047Ter)
c.24136C>T (p.Gln8046Ter)
c.24292C>T (p.Gln8098Ter)
c.24130C>T (p.Gln8044Ter)
c.22570C>T (p.Gln7524Ter)
c.22063C>T (p.Gln7355Ter)
c.17530C>T (p.Gln5844Ter)
c.865C>T (p.Gln289Ter)
c.24268C>T (p.Gln8090Ter)
c.24217C>T (p.Gln8073Ter)
6g.152152012G>CCA366086934SYNE1c.724C>G (p.Gln242Glu)
c.24259C>G (p.Gln8087Glu)
c.24046C>G (p.Gln8016Glu)
c.173C>G
c.31C>G (p.Gln11Glu)
c.23044C>G (p.Gln7682Glu)
n.938C>G
c.3025C>G (p.Gln1009Glu)
n.7951C>G
c.2197C>G (p.Gln733Glu)
n.7843C>G
n.804C>G
n.321C>G
n.1096C>G
c.24295C>G (p.Gln8099Glu)
c.24283C>G (p.Gln8095Glu)
c.24274C>G (p.Gln8092Glu)
c.24244C>G (p.Gln8082Glu)
c.24280C>G (p.Gln8094Glu)
c.24223C>G (p.Gln8075Glu)
c.24154C>G (p.Gln8052Glu)
c.24142C>G (p.Gln8048Glu)
c.24139C>G (p.Gln8047Glu)
c.24136C>G (p.Gln8046Glu)
c.24292C>G (p.Gln8098Glu)
c.24130C>G (p.Gln8044Glu)
c.22570C>G (p.Gln7524Glu)
c.22063C>G (p.Gln7355Glu)
c.17530C>G (p.Gln5844Glu)
c.865C>G (p.Gln289Glu)
c.24268C>G (p.Gln8090Glu)
c.24217C>G (p.Gln8073Glu)
6g.152152012G>TCA366086933SYNE1c.724C>A (p.Gln242Lys)
c.24259C>A (p.Gln8087Lys)
c.24046C>A (p.Gln8016Lys)
c.173C>A
c.31C>A (p.Gln11Lys)
c.23044C>A (p.Gln7682Lys)
n.938C>A
c.3025C>A (p.Gln1009Lys)
n.7951C>A
c.2197C>A (p.Gln733Lys)
n.7843C>A
n.804C>A
n.321C>A
n.1096C>A
c.24295C>A (p.Gln8099Lys)
c.24283C>A (p.Gln8095Lys)
c.24274C>A (p.Gln8092Lys)
c.24244C>A (p.Gln8082Lys)
c.24280C>A (p.Gln8094Lys)
c.24223C>A (p.Gln8075Lys)
c.24154C>A (p.Gln8052Lys)
c.24142C>A (p.Gln8048Lys)
c.24139C>A (p.Gln8047Lys)
c.24136C>A (p.Gln8046Lys)
c.24292C>A (p.Gln8098Lys)
c.24130C>A (p.Gln8044Lys)
c.22570C>A (p.Gln7524Lys)
c.22063C>A (p.Gln7355Lys)
c.17530C>A (p.Gln5844Lys)
c.865C>A (p.Gln289Lys)
c.24268C>A (p.Gln8090Lys)
c.24217C>A (p.Gln8073Lys)
6g.152152013G>ACA452748313SYNE1c.723C>T (p.Asn241=)
c.24258C>T (p.Asn8086=)
c.24045C>T (p.Asn8015=)
c.172C>T
c.30C>T (p.Asn10=)
c.23043C>T (p.Asn7681=)
n.937C>T
c.3024C>T (p.Asn1008=)
n.7950C>T
c.2196C>T (p.Asn732=)
n.7842C>T
n.803C>T
n.320C>T
n.1095C>T
c.24294C>T (p.Asn8098=)
c.24282C>T (p.Asn8094=)
c.24273C>T (p.Asn8091=)
c.24243C>T (p.Asn8081=)
c.24279C>T (p.Asn8093=)
c.24222C>T (p.Asn8074=)
c.24153C>T (p.Asn8051=)
c.24141C>T (p.Asn8047=)
c.24138C>T (p.Asn8046=)
c.24135C>T (p.Asn8045=)
c.24291C>T (p.Asn8097=)
c.24129C>T (p.Asn8043=)
c.22569C>T (p.Asn7523=)
c.22062C>T (p.Asn7354=)
c.17529C>T (p.Asn5843=)
c.864C>T (p.Asn288=)
c.24267C>T (p.Asn8089=)
c.24216C>T (p.Asn8072=)
 dbSNP
6g.152152013G>CCA366086935SYNE1c.723C>G (p.Asn241Lys)
c.24258C>G (p.Asn8086Lys)
c.24045C>G (p.Asn8015Lys)
c.172C>G
c.30C>G (p.Asn10Lys)
c.23043C>G (p.Asn7681Lys)
n.937C>G
c.3024C>G (p.Asn1008Lys)
n.7950C>G
c.2196C>G (p.Asn732Lys)
n.7842C>G
n.803C>G
n.320C>G
n.1095C>G
c.24294C>G (p.Asn8098Lys)
c.24282C>G (p.Asn8094Lys)
c.24273C>G (p.Asn8091Lys)
c.24243C>G (p.Asn8081Lys)
c.24279C>G (p.Asn8093Lys)
c.24222C>G (p.Asn8074Lys)
c.24153C>G (p.Asn8051Lys)
c.24141C>G (p.Asn8047Lys)
c.24138C>G (p.Asn8046Lys)
c.24135C>G (p.Asn8045Lys)
c.24291C>G (p.Asn8097Lys)
c.24129C>G (p.Asn8043Lys)
c.22569C>G (p.Asn7523Lys)
c.22062C>G (p.Asn7354Lys)
c.17529C>G (p.Asn5843Lys)
c.864C>G (p.Asn288Lys)
c.24267C>G (p.Asn8089Lys)
c.24216C>G (p.Asn8072Lys)
6g.152152013G=CA1673186858SYNE1c.723C= (p.Asn241=)
c.24258C= (p.Asn8086=)
c.24045C= (p.Asn8015=)
c.172C=
c.30C= (p.Asn10=)
c.23043C= (p.Asn7681=)
n.937C=
c.3024C= (p.Asn1008=)
n.7950C=
c.2196C= (p.Asn732=)
n.7842C=
n.803C=
n.320C=
n.1095C=
c.24294C= (p.Asn8098=)
c.24282C= (p.Asn8094=)
c.24273C= (p.Asn8091=)
c.24243C= (p.Asn8081=)
c.24279C= (p.Asn8093=)
c.24222C= (p.Asn8074=)
c.24153C= (p.Asn8051=)
c.24141C= (p.Asn8047=)
c.24138C= (p.Asn8046=)
c.24135C= (p.Asn8045=)
c.24291C= (p.Asn8097=)
c.24129C= (p.Asn8043=)
c.22569C= (p.Asn7523=)
c.22062C= (p.Asn7354=)
c.17529C= (p.Asn5843=)
c.864C= (p.Asn288=)
c.24267C= (p.Asn8089=)
c.24216C= (p.Asn8072=)
6g.152152013G>TCA366086936SYNE1c.723C>A (p.Asn241Lys)
c.24258C>A (p.Asn8086Lys)
c.24045C>A (p.Asn8015Lys)
c.172C>A
c.30C>A (p.Asn10Lys)
c.23043C>A (p.Asn7681Lys)
n.937C>A
c.3024C>A (p.Asn1008Lys)
n.7950C>A
c.2196C>A (p.Asn732Lys)
n.7842C>A
n.803C>A
n.320C>A
n.1095C>A
c.24294C>A (p.Asn8098Lys)
c.24282C>A (p.Asn8094Lys)
c.24273C>A (p.Asn8091Lys)
c.24243C>A (p.Asn8081Lys)
c.24279C>A (p.Asn8093Lys)
c.24222C>A (p.Asn8074Lys)
c.24153C>A (p.Asn8051Lys)
c.24141C>A (p.Asn8047Lys)
c.24138C>A (p.Asn8046Lys)
c.24135C>A (p.Asn8045Lys)
c.24291C>A (p.Asn8097Lys)
c.24129C>A (p.Asn8043Lys)
c.22569C>A (p.Asn7523Lys)
c.22062C>A (p.Asn7354Lys)
c.17529C>A (p.Asn5843Lys)
c.864C>A (p.Asn288Lys)
c.24267C>A (p.Asn8089Lys)
c.24216C>A (p.Asn8072Lys)
6g.152152014T>ACA366086937SYNE1c.722A>T (p.Asn241Ile)
c.24257A>T (p.Asn8086Ile)
c.24044A>T (p.Asn8015Ile)
c.171A>T
c.29A>T (p.Asn10Ile)
c.23042A>T (p.Asn7681Ile)
n.936A>T
c.3023A>T (p.Asn1008Ile)
n.7949A>T
c.2195A>T (p.Asn732Ile)
n.7841A>T
n.802A>T
n.319A>T
n.1094A>T
c.24293A>T (p.Asn8098Ile)
c.24281A>T (p.Asn8094Ile)
c.24272A>T (p.Asn8091Ile)
c.24242A>T (p.Asn8081Ile)
c.24278A>T (p.Asn8093Ile)
c.24221A>T (p.Asn8074Ile)
c.24152A>T (p.Asn8051Ile)
c.24140A>T (p.Asn8047Ile)
c.24137A>T (p.Asn8046Ile)
c.24134A>T (p.Asn8045Ile)
c.24290A>T (p.Asn8097Ile)
c.24128A>T (p.Asn8043Ile)
c.22568A>T (p.Asn7523Ile)
c.22061A>T (p.Asn7354Ile)
c.17528A>T (p.Asn5843Ile)
c.863A>T (p.Asn288Ile)
c.24266A>T (p.Asn8089Ile)
c.24215A>T (p.Asn8072Ile)
6g.152152014T>CCA366086938SYNE1c.722A>G (p.Asn241Ser)
c.24257A>G (p.Asn8086Ser)
c.24044A>G (p.Asn8015Ser)
c.171A>G
c.29A>G (p.Asn10Ser)
c.23042A>G (p.Asn7681Ser)
n.936A>G
c.3023A>G (p.Asn1008Ser)
n.7949A>G
c.2195A>G (p.Asn732Ser)
n.7841A>G
n.802A>G
n.319A>G
n.1094A>G
c.24293A>G (p.Asn8098Ser)
c.24281A>G (p.Asn8094Ser)
c.24272A>G (p.Asn8091Ser)
c.24242A>G (p.Asn8081Ser)
c.24278A>G (p.Asn8093Ser)
c.24221A>G (p.Asn8074Ser)
c.24152A>G (p.Asn8051Ser)
c.24140A>G (p.Asn8047Ser)
c.24137A>G (p.Asn8046Ser)
c.24134A>G (p.Asn8045Ser)
c.24290A>G (p.Asn8097Ser)
c.24128A>G (p.Asn8043Ser)
c.22568A>G (p.Asn7523Ser)
c.22061A>G (p.Asn7354Ser)
c.17528A>G (p.Asn5843Ser)
c.863A>G (p.Asn288Ser)
c.24266A>G (p.Asn8089Ser)
c.24215A>G (p.Asn8072Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.152152014T>GCA366086939SYNE1c.722A>C (p.Asn241Thr)
c.24257A>C (p.Asn8086Thr)
c.24044A>C (p.Asn8015Thr)
c.171A>C
c.29A>C (p.Asn10Thr)
c.23042A>C (p.Asn7681Thr)
n.936A>C
c.3023A>C (p.Asn1008Thr)
n.7949A>C
c.2195A>C (p.Asn732Thr)
n.7841A>C
n.802A>C
n.319A>C
n.1094A>C
c.24293A>C (p.Asn8098Thr)
c.24281A>C (p.Asn8094Thr)
c.24272A>C (p.Asn8091Thr)
c.24242A>C (p.Asn8081Thr)
c.24278A>C (p.Asn8093Thr)
c.24221A>C (p.Asn8074Thr)
c.24152A>C (p.Asn8051Thr)
c.24140A>C (p.Asn8047Thr)
c.24137A>C (p.Asn8046Thr)
c.24134A>C (p.Asn8045Thr)
c.24290A>C (p.Asn8097Thr)
c.24128A>C (p.Asn8043Thr)
c.22568A>C (p.Asn7523Thr)
c.22061A>C (p.Asn7354Thr)
c.17528A>C (p.Asn5843Thr)
c.863A>C (p.Asn288Thr)
c.24266A>C (p.Asn8089Thr)
c.24215A>C (p.Asn8072Thr)
6g.152152014T=CA1673186860SYNE1c.722A= (p.Asn241=)
c.24257A= (p.Asn8086=)
c.24044A= (p.Asn8015=)
c.171A=
c.29A= (p.Asn10=)
c.23042A= (p.Asn7681=)
n.936A=
c.3023A= (p.Asn1008=)
n.7949A=
c.2195A= (p.Asn732=)
n.7841A=
n.802A=
n.319A=
n.1094A=
c.24293A= (p.Asn8098=)
c.24281A= (p.Asn8094=)
c.24272A= (p.Asn8091=)
c.24242A= (p.Asn8081=)
c.24278A= (p.Asn8093=)
c.24221A= (p.Asn8074=)
c.24152A= (p.Asn8051=)
c.24140A= (p.Asn8047=)
c.24137A= (p.Asn8046=)
c.24134A= (p.Asn8045=)
c.24290A= (p.Asn8097=)
c.24128A= (p.Asn8043=)
c.22568A= (p.Asn7523=)
c.22061A= (p.Asn7354=)
c.17528A= (p.Asn5843=)
c.863A= (p.Asn288=)
c.24266A= (p.Asn8089=)
c.24215A= (p.Asn8072=)
6g.152152015T>ACA366086940SYNE1c.721A>T (p.Asn241Tyr)
c.24256A>T (p.Asn8086Tyr)
c.24043A>T (p.Asn8015Tyr)
c.170A>T
c.28A>T (p.Asn10Tyr)
c.23041A>T (p.Asn7681Tyr)
n.935A>T
c.3022A>T (p.Asn1008Tyr)
n.7948A>T
c.2194A>T (p.Asn732Tyr)
n.7840A>T
n.801A>T
n.318A>T
n.1093A>T
c.24292A>T (p.Asn8098Tyr)
c.24280A>T (p.Asn8094Tyr)
c.24271A>T (p.Asn8091Tyr)
c.24241A>T (p.Asn8081Tyr)
c.24277A>T (p.Asn8093Tyr)
c.24220A>T (p.Asn8074Tyr)
c.24151A>T (p.Asn8051Tyr)
c.24139A>T (p.Asn8047Tyr)
c.24136A>T (p.Asn8046Tyr)
c.24133A>T (p.Asn8045Tyr)
c.24289A>T (p.Asn8097Tyr)
c.24127A>T (p.Asn8043Tyr)
c.22567A>T (p.Asn7523Tyr)
c.22060A>T (p.Asn7354Tyr)
c.17527A>T (p.Asn5843Tyr)
c.862A>T (p.Asn288Tyr)
c.24265A>T (p.Asn8089Tyr)
c.24214A>T (p.Asn8072Tyr)
6g.152152015T>CCA366086941SYNE1c.721A>G (p.Asn241Asp)
c.24256A>G (p.Asn8086Asp)
c.24043A>G (p.Asn8015Asp)
c.170A>G
c.28A>G (p.Asn10Asp)
c.23041A>G (p.Asn7681Asp)
n.935A>G
c.3022A>G (p.Asn1008Asp)
n.7948A>G
c.2194A>G (p.Asn732Asp)
n.7840A>G
n.801A>G
n.318A>G
n.1093A>G
c.24292A>G (p.Asn8098Asp)
c.24280A>G (p.Asn8094Asp)
c.24271A>G (p.Asn8091Asp)
c.24241A>G (p.Asn8081Asp)
c.24277A>G (p.Asn8093Asp)
c.24220A>G (p.Asn8074Asp)
c.24151A>G (p.Asn8051Asp)
c.24139A>G (p.Asn8047Asp)
c.24136A>G (p.Asn8046Asp)
c.24133A>G (p.Asn8045Asp)
c.24289A>G (p.Asn8097Asp)
c.24127A>G (p.Asn8043Asp)
c.22567A>G (p.Asn7523Asp)
c.22060A>G (p.Asn7354Asp)
c.17527A>G (p.Asn5843Asp)
c.862A>G (p.Asn288Asp)
c.24265A>G (p.Asn8089Asp)
c.24214A>G (p.Asn8072Asp)
6g.152152015T>GCA366086942SYNE1c.721A>C (p.Asn241His)
c.24256A>C (p.Asn8086His)
c.24043A>C (p.Asn8015His)
c.170A>C
c.28A>C (p.Asn10His)
c.23041A>C (p.Asn7681His)
n.935A>C
c.3022A>C (p.Asn1008His)
n.7948A>C
c.2194A>C (p.Asn732His)
n.7840A>C
n.801A>C
n.318A>C
n.1093A>C
c.24292A>C (p.Asn8098His)
c.24280A>C (p.Asn8094His)
c.24271A>C (p.Asn8091His)
c.24241A>C (p.Asn8081His)
c.24277A>C (p.Asn8093His)
c.24220A>C (p.Asn8074His)
c.24151A>C (p.Asn8051His)
c.24139A>C (p.Asn8047His)
c.24136A>C (p.Asn8046His)
c.24133A>C (p.Asn8045His)
c.24289A>C (p.Asn8097His)
c.24127A>C (p.Asn8043His)
c.22567A>C (p.Asn7523His)
c.22060A>C (p.Asn7354His)
c.17527A>C (p.Asn5843His)
c.862A>C (p.Asn288His)
c.24265A>C (p.Asn8089His)
c.24214A>C (p.Asn8072His)
6g.152152016G>ACA452748314SYNE1c.720C>T (p.Gly240=)
c.24255C>T (p.Gly8085=)
c.24042C>T (p.Gly8014=)
c.169C>T
c.27C>T (p.Gly9=)
c.23040C>T (p.Gly7680=)
n.934C>T
c.3021C>T (p.Gly1007=)
n.7947C>T
c.2193C>T (p.Gly731=)
n.7839C>T
n.800C>T
n.317C>T
n.1092C>T
c.24291C>T (p.Gly8097=)
c.24279C>T (p.Gly8093=)
c.24270C>T (p.Gly8090=)
c.24240C>T (p.Gly8080=)
c.24276C>T (p.Gly8092=)
c.24219C>T (p.Gly8073=)
c.24150C>T (p.Gly8050=)
c.24138C>T (p.Gly8046=)
c.24135C>T (p.Gly8045=)
c.24132C>T (p.Gly8044=)
c.24288C>T (p.Gly8096=)
c.24126C>T (p.Gly8042=)
c.22566C>T (p.Gly7522=)
c.22059C>T (p.Gly7353=)
c.17526C>T (p.Gly5842=)
c.861C>T (p.Gly287=)
c.24264C>T (p.Gly8088=)
c.24213C>T (p.Gly8071=)
6g.152152016G>CCA452748315SYNE1c.720C>G (p.Gly240=)
c.24255C>G (p.Gly8085=)
c.24042C>G (p.Gly8014=)
c.169C>G
c.27C>G (p.Gly9=)
c.23040C>G (p.Gly7680=)
n.934C>G
c.3021C>G (p.Gly1007=)
n.7947C>G
c.2193C>G (p.Gly731=)
n.7839C>G
n.800C>G
n.317C>G
n.1092C>G
c.24291C>G (p.Gly8097=)
c.24279C>G (p.Gly8093=)
c.24270C>G (p.Gly8090=)
c.24240C>G (p.Gly8080=)
c.24276C>G (p.Gly8092=)
c.24219C>G (p.Gly8073=)
c.24150C>G (p.Gly8050=)
c.24138C>G (p.Gly8046=)
c.24135C>G (p.Gly8045=)
c.24132C>G (p.Gly8044=)
c.24288C>G (p.Gly8096=)
c.24126C>G (p.Gly8042=)
c.22566C>G (p.Gly7522=)
c.22059C>G (p.Gly7353=)
c.17526C>G (p.Gly5842=)
c.861C>G (p.Gly287=)
c.24264C>G (p.Gly8088=)
c.24213C>G (p.Gly8071=)
6g.152152016G>TCA452748316SYNE1c.720C>A (p.Gly240=)
c.24255C>A (p.Gly8085=)
c.24042C>A (p.Gly8014=)
c.169C>A
c.27C>A (p.Gly9=)
c.23040C>A (p.Gly7680=)
n.934C>A
c.3021C>A (p.Gly1007=)
n.7947C>A
c.2193C>A (p.Gly731=)
n.7839C>A
n.800C>A
n.317C>A
n.1092C>A
c.24291C>A (p.Gly8097=)
c.24279C>A (p.Gly8093=)
c.24270C>A (p.Gly8090=)
c.24240C>A (p.Gly8080=)
c.24276C>A (p.Gly8092=)
c.24219C>A (p.Gly8073=)
c.24150C>A (p.Gly8050=)
c.24138C>A (p.Gly8046=)
c.24135C>A (p.Gly8045=)
c.24132C>A (p.Gly8044=)
c.24288C>A (p.Gly8096=)
c.24126C>A (p.Gly8042=)
c.22566C>A (p.Gly7522=)
c.22059C>A (p.Gly7353=)
c.17526C>A (p.Gly5842=)
c.861C>A (p.Gly287=)
c.24264C>A (p.Gly8088=)
c.24213C>A (p.Gly8071=)
6g.152152017C>ACA366086943SYNE1c.719G>T (p.Gly240Val)
c.24254G>T (p.Gly8085Val)
c.24041G>T (p.Gly8014Val)
c.168G>T
c.26G>T (p.Gly9Val)
c.23039G>T (p.Gly7680Val)
n.933G>T
c.3020G>T (p.Gly1007Val)
n.7946G>T
c.2192G>T (p.Gly731Val)
n.7838G>T
n.799G>T
n.316G>T
n.1091G>T
c.24290G>T (p.Gly8097Val)
c.24278G>T (p.Gly8093Val)
c.24269G>T (p.Gly8090Val)
c.24239G>T (p.Gly8080Val)
c.24275G>T (p.Gly8092Val)
c.24218G>T (p.Gly8073Val)
c.24149G>T (p.Gly8050Val)
c.24137G>T (p.Gly8046Val)
c.24134G>T (p.Gly8045Val)
c.24131G>T (p.Gly8044Val)
c.24287G>T (p.Gly8096Val)
c.24125G>T (p.Gly8042Val)
c.22565G>T (p.Gly7522Val)
c.22058G>T (p.Gly7353Val)
c.17525G>T (p.Gly5842Val)
c.860G>T (p.Gly287Val)
c.24263G>T (p.Gly8088Val)
c.24212G>T (p.Gly8071Val)
6g.152152017C>GCA366086944SYNE1c.719G>C (p.Gly240Ala)
c.24254G>C (p.Gly8085Ala)
c.24041G>C (p.Gly8014Ala)
c.168G>C
c.26G>C (p.Gly9Ala)
c.23039G>C (p.Gly7680Ala)
n.933G>C
c.3020G>C (p.Gly1007Ala)
n.7946G>C
c.2192G>C (p.Gly731Ala)
n.7838G>C
n.799G>C
n.316G>C
n.1091G>C
c.24290G>C (p.Gly8097Ala)
c.24278G>C (p.Gly8093Ala)
c.24269G>C (p.Gly8090Ala)
c.24239G>C (p.Gly8080Ala)
c.24275G>C (p.Gly8092Ala)
c.24218G>C (p.Gly8073Ala)
c.24149G>C (p.Gly8050Ala)
c.24137G>C (p.Gly8046Ala)
c.24134G>C (p.Gly8045Ala)
c.24131G>C (p.Gly8044Ala)
c.24287G>C (p.Gly8096Ala)
c.24125G>C (p.Gly8042Ala)
c.22565G>C (p.Gly7522Ala)
c.22058G>C (p.Gly7353Ala)
c.17525G>C (p.Gly5842Ala)
c.860G>C (p.Gly287Ala)
c.24263G>C (p.Gly8088Ala)
c.24212G>C (p.Gly8071Ala)
6g.152152017C>TCA366086945SYNE1c.719G>A (p.Gly240Asp)
c.24254G>A (p.Gly8085Asp)
c.24041G>A (p.Gly8014Asp)
c.168G>A
c.26G>A (p.Gly9Asp)
c.23039G>A (p.Gly7680Asp)
n.933G>A
c.3020G>A (p.Gly1007Asp)
n.7946G>A
c.2192G>A (p.Gly731Asp)
n.7838G>A
n.799G>A
n.316G>A
n.1091G>A
c.24290G>A (p.Gly8097Asp)
c.24278G>A (p.Gly8093Asp)
c.24269G>A (p.Gly8090Asp)
c.24239G>A (p.Gly8080Asp)
c.24275G>A (p.Gly8092Asp)
c.24218G>A (p.Gly8073Asp)
c.24149G>A (p.Gly8050Asp)
c.24137G>A (p.Gly8046Asp)
c.24134G>A (p.Gly8045Asp)
c.24131G>A (p.Gly8044Asp)
c.24287G>A (p.Gly8096Asp)
c.24125G>A (p.Gly8042Asp)
c.22565G>A (p.Gly7522Asp)
c.22058G>A (p.Gly7353Asp)
c.17525G>A (p.Gly5842Asp)
c.860G>A (p.Gly287Asp)
c.24263G>A (p.Gly8088Asp)
c.24212G>A (p.Gly8071Asp)
6g.152152018C>ACA366086946SYNE1c.718G>T (p.Gly240Cys)
c.24253G>T (p.Gly8085Cys)
c.24040G>T (p.Gly8014Cys)
c.167G>T
c.25G>T (p.Gly9Cys)
c.23038G>T (p.Gly7680Cys)
n.932G>T
c.3019G>T (p.Gly1007Cys)
n.7945G>T
c.2191G>T (p.Gly731Cys)
n.7837G>T
n.798G>T
n.315G>T
n.1090G>T
c.24289G>T (p.Gly8097Cys)
c.24277G>T (p.Gly8093Cys)
c.24268G>T (p.Gly8090Cys)
c.24238G>T (p.Gly8080Cys)
c.24274G>T (p.Gly8092Cys)
c.24217G>T (p.Gly8073Cys)
c.24148G>T (p.Gly8050Cys)
c.24136G>T (p.Gly8046Cys)
c.24133G>T (p.Gly8045Cys)
c.24130G>T (p.Gly8044Cys)
c.24286G>T (p.Gly8096Cys)
c.24124G>T (p.Gly8042Cys)
c.22564G>T (p.Gly7522Cys)
c.22057G>T (p.Gly7353Cys)
c.17524G>T (p.Gly5842Cys)
c.859G>T (p.Gly287Cys)
c.24262G>T (p.Gly8088Cys)
c.24211G>T (p.Gly8071Cys)
6g.152152018C>GCA366086948SYNE1c.718G>C (p.Gly240Arg)
c.24253G>C (p.Gly8085Arg)
c.24040G>C (p.Gly8014Arg)
c.167G>C
c.25G>C (p.Gly9Arg)
c.23038G>C (p.Gly7680Arg)
n.932G>C
c.3019G>C (p.Gly1007Arg)
n.7945G>C
c.2191G>C (p.Gly731Arg)
n.7837G>C
n.798G>C
n.315G>C
n.1090G>C
c.24289G>C (p.Gly8097Arg)
c.24277G>C (p.Gly8093Arg)
c.24268G>C (p.Gly8090Arg)
c.24238G>C (p.Gly8080Arg)
c.24274G>C (p.Gly8092Arg)
c.24217G>C (p.Gly8073Arg)
c.24148G>C (p.Gly8050Arg)
c.24136G>C (p.Gly8046Arg)
c.24133G>C (p.Gly8045Arg)
c.24130G>C (p.Gly8044Arg)
c.24286G>C (p.Gly8096Arg)
c.24124G>C (p.Gly8042Arg)
c.22564G>C (p.Gly7522Arg)
c.22057G>C (p.Gly7353Arg)
c.17524G>C (p.Gly5842Arg)
c.859G>C (p.Gly287Arg)
c.24262G>C (p.Gly8088Arg)
c.24211G>C (p.Gly8071Arg)
6g.152152018C>TCA366086947SYNE1c.718G>A (p.Gly240Ser)
c.24253G>A (p.Gly8085Ser)
c.24040G>A (p.Gly8014Ser)
c.167G>A
c.25G>A (p.Gly9Ser)
c.23038G>A (p.Gly7680Ser)
n.932G>A
c.3019G>A (p.Gly1007Ser)
n.7945G>A
c.2191G>A (p.Gly731Ser)
n.7837G>A
n.798G>A
n.315G>A
n.1090G>A
c.24289G>A (p.Gly8097Ser)
c.24277G>A (p.Gly8093Ser)
c.24268G>A (p.Gly8090Ser)
c.24238G>A (p.Gly8080Ser)
c.24274G>A (p.Gly8092Ser)
c.24217G>A (p.Gly8073Ser)
c.24148G>A (p.Gly8050Ser)
c.24136G>A (p.Gly8046Ser)
c.24133G>A (p.Gly8045Ser)
c.24130G>A (p.Gly8044Ser)
c.24286G>A (p.Gly8096Ser)
c.24124G>A (p.Gly8042Ser)
c.22564G>A (p.Gly7522Ser)
c.22057G>A (p.Gly7353Ser)
c.17524G>A (p.Gly5842Ser)
c.859G>A (p.Gly287Ser)
c.24262G>A (p.Gly8088Ser)
c.24211G>A (p.Gly8071Ser)
 gnomAD v3 gnomAD v4
6g.152152019T>ACA366086949SYNE1c.717A>T (p.Glu239Asp)
c.24252A>T (p.Glu8084Asp)
c.24039A>T (p.Glu8013Asp)
c.166A>T
c.24A>T (p.Glu8Asp)
c.23037A>T (p.Glu7679Asp)
n.931A>T
c.3018A>T (p.Glu1006Asp)
n.7944A>T
c.2190A>T (p.Glu730Asp)
n.7836A>T
n.797A>T
n.314A>T
n.1089A>T
c.24288A>T (p.Glu8096Asp)
c.24276A>T (p.Glu8092Asp)
c.24267A>T (p.Glu8089Asp)
c.24237A>T (p.Glu8079Asp)
c.24273A>T (p.Glu8091Asp)
c.24216A>T (p.Glu8072Asp)
c.24147A>T (p.Glu8049Asp)
c.24135A>T (p.Glu8045Asp)
c.24132A>T (p.Glu8044Asp)
c.24129A>T (p.Glu8043Asp)
c.24285A>T (p.Glu8095Asp)
c.24123A>T (p.Glu8041Asp)
c.22563A>T (p.Glu7521Asp)
c.22056A>T (p.Glu7352Asp)
c.17523A>T (p.Glu5841Asp)
c.858A>T (p.Glu286Asp)
c.24261A>T (p.Glu8087Asp)
c.24210A>T (p.Glu8070Asp)
6g.152152019T>CCA10621672SYNE1c.717A>G (p.Glu239=)
c.24252A>G (p.Glu8084=)
c.24039A>G (p.Glu8013=)
c.166A>G
c.24A>G (p.Glu8=)
c.23037A>G (p.Glu7679=)
n.931A>G
c.3018A>G (p.Glu1006=)
n.7944A>G
c.2190A>G (p.Glu730=)
n.7836A>G
n.797A>G
n.314A>G
n.1089A>G
c.24288A>G (p.Glu8096=)
c.24276A>G (p.Glu8092=)
c.24267A>G (p.Glu8089=)
c.24237A>G (p.Glu8079=)
c.24273A>G (p.Glu8091=)
c.24216A>G (p.Glu8072=)
c.24147A>G (p.Glu8049=)
c.24135A>G (p.Glu8045=)
c.24132A>G (p.Glu8044=)
c.24129A>G (p.Glu8043=)
c.24285A>G (p.Glu8095=)
c.24123A>G (p.Glu8041=)
c.22563A>G (p.Glu7521=)
c.22056A>G (p.Glu7352=)
c.17523A>G (p.Glu5841=)
c.858A>G (p.Glu286=)
c.24261A>G (p.Glu8087=)
c.24210A>G (p.Glu8070=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152152019T>GCA366086950SYNE1c.717A>C (p.Glu239Asp)
c.24252A>C (p.Glu8084Asp)
c.24039A>C (p.Glu8013Asp)
c.166A>C
c.24A>C (p.Glu8Asp)
c.23037A>C (p.Glu7679Asp)
n.931A>C
c.3018A>C (p.Glu1006Asp)
n.7944A>C
c.2190A>C (p.Glu730Asp)
n.7836A>C
n.797A>C
n.314A>C
n.1089A>C
c.24288A>C (p.Glu8096Asp)
c.24276A>C (p.Glu8092Asp)
c.24267A>C (p.Glu8089Asp)
c.24237A>C (p.Glu8079Asp)
c.24273A>C (p.Glu8091Asp)
c.24216A>C (p.Glu8072Asp)
c.24147A>C (p.Glu8049Asp)
c.24135A>C (p.Glu8045Asp)
c.24132A>C (p.Glu8044Asp)
c.24129A>C (p.Glu8043Asp)
c.24285A>C (p.Glu8095Asp)
c.24123A>C (p.Glu8041Asp)
c.22563A>C (p.Glu7521Asp)
c.22056A>C (p.Glu7352Asp)
c.17523A>C (p.Glu5841Asp)
c.858A>C (p.Glu286Asp)
c.24261A>C (p.Glu8087Asp)
c.24210A>C (p.Glu8070Asp)
6g.152152019T=CA1673186867SYNE1c.717A= (p.Glu239=)
c.24252A= (p.Glu8084=)
c.24039A= (p.Glu8013=)
c.166A=
c.24A= (p.Glu8=)
c.23037A= (p.Glu7679=)
n.931A=
c.3018A= (p.Glu1006=)
n.7944A=
c.2190A= (p.Glu730=)
n.7836A=
n.797A=
n.314A=
n.1089A=
c.24288A= (p.Glu8096=)
c.24276A= (p.Glu8092=)
c.24267A= (p.Glu8089=)
c.24237A= (p.Glu8079=)
c.24273A= (p.Glu8091=)
c.24216A= (p.Glu8072=)
c.24147A= (p.Glu8049=)
c.24135A= (p.Glu8045=)
c.24132A= (p.Glu8044=)
c.24129A= (p.Glu8043=)
c.24285A= (p.Glu8095=)
c.24123A= (p.Glu8041=)
c.22563A= (p.Glu7521=)
c.22056A= (p.Glu7352=)
c.17523A= (p.Glu5841=)
c.858A= (p.Glu286=)
c.24261A= (p.Glu8087=)
c.24210A= (p.Glu8070=)
6g.152152020delCA2680816875SYNE1c.717del (p.Gly240AlafsTer?)
c.24252del (p.Gly8085AlafsTer?)
c.24039del (p.Gly8014AlafsTer?)
c.166del
c.24del (p.Gly9AlafsTer?)
c.23037del (p.Gly7680AlafsTer?)
n.931del
c.3018del (p.Gly1007AlafsTer?)
n.7944del
c.2190del (p.Gly731AlafsTer?)
n.7836del
n.797del
n.314del
n.1089del
c.24288del (p.Gly8097AlafsTer?)
c.24276del (p.Gly8093AlafsTer?)
c.24267del (p.Gly8090AlafsTer?)
c.24237del (p.Gly8080AlafsTer?)
c.24273del (p.Gly8092AlafsTer?)
c.24216del (p.Gly8073AlafsTer?)
c.24147del (p.Gly8050AlafsTer?)
c.24135del (p.Gly8046AlafsTer?)
c.24132del (p.Gly8045AlafsTer?)
c.24129del (p.Gly8044AlafsTer?)
c.24285del (p.Gly8096AlafsTer?)
c.24123del (p.Gly8042AlafsTer?)
c.22563del (p.Gly7522AlafsTer?)
c.22056del (p.Gly7353AlafsTer?)
c.17523del (p.Gly5842AlafsTer?)
c.858del (p.Gly287AlafsTer?)
c.24261del (p.Gly8088AlafsTer?)
c.24210del (p.Gly8071AlafsTer?)
 gnomAD v4
6g.152152020T>ACA366086951SYNE1c.716A>T (p.Glu239Val)
c.24251A>T (p.Glu8084Val)
c.24038A>T (p.Glu8013Val)
c.165A>T
c.23A>T (p.Glu8Val)
c.23036A>T (p.Glu7679Val)
n.930A>T
c.3017A>T (p.Glu1006Val)
n.7943A>T
c.2189A>T (p.Glu730Val)
n.7835A>T
n.796A>T
n.313A>T
n.1088A>T
c.24287A>T (p.Glu8096Val)
c.24275A>T (p.Glu8092Val)
c.24266A>T (p.Glu8089Val)
c.24236A>T (p.Glu8079Val)
c.24272A>T (p.Glu8091Val)
c.24215A>T (p.Glu8072Val)
c.24146A>T (p.Glu8049Val)
c.24134A>T (p.Glu8045Val)
c.24131A>T (p.Glu8044Val)
c.24128A>T (p.Glu8043Val)
c.24284A>T (p.Glu8095Val)
c.24122A>T (p.Glu8041Val)
c.22562A>T (p.Glu7521Val)
c.22055A>T (p.Glu7352Val)
c.17522A>T (p.Glu5841Val)
c.857A>T (p.Glu286Val)
c.24260A>T (p.Glu8087Val)
c.24209A>T (p.Glu8070Val)
6g.152152020T>CCA366086952SYNE1c.716A>G (p.Glu239Gly)
c.24251A>G (p.Glu8084Gly)
c.24038A>G (p.Glu8013Gly)
c.165A>G
c.23A>G (p.Glu8Gly)
c.23036A>G (p.Glu7679Gly)
n.930A>G
c.3017A>G (p.Glu1006Gly)
n.7943A>G
c.2189A>G (p.Glu730Gly)
n.7835A>G
n.796A>G
n.313A>G
n.1088A>G
c.24287A>G (p.Glu8096Gly)
c.24275A>G (p.Glu8092Gly)
c.24266A>G (p.Glu8089Gly)
c.24236A>G (p.Glu8079Gly)
c.24272A>G (p.Glu8091Gly)
c.24215A>G (p.Glu8072Gly)
c.24146A>G (p.Glu8049Gly)
c.24134A>G (p.Glu8045Gly)
c.24131A>G (p.Glu8044Gly)
c.24128A>G (p.Glu8043Gly)
c.24284A>G (p.Glu8095Gly)
c.24122A>G (p.Glu8041Gly)
c.22562A>G (p.Glu7521Gly)
c.22055A>G (p.Glu7352Gly)
c.17522A>G (p.Glu5841Gly)
c.857A>G (p.Glu286Gly)
c.24260A>G (p.Glu8087Gly)
c.24209A>G (p.Glu8070Gly)
6g.152152020T>GCA366086953SYNE1c.716A>C (p.Glu239Ala)
c.24251A>C (p.Glu8084Ala)
c.24038A>C (p.Glu8013Ala)
c.165A>C
c.23A>C (p.Glu8Ala)
c.23036A>C (p.Glu7679Ala)
n.930A>C
c.3017A>C (p.Glu1006Ala)
n.7943A>C
c.2189A>C (p.Glu730Ala)
n.7835A>C
n.796A>C
n.313A>C
n.1088A>C
c.24287A>C (p.Glu8096Ala)
c.24275A>C (p.Glu8092Ala)
c.24266A>C (p.Glu8089Ala)
c.24236A>C (p.Glu8079Ala)
c.24272A>C (p.Glu8091Ala)
c.24215A>C (p.Glu8072Ala)
c.24146A>C (p.Glu8049Ala)
c.24134A>C (p.Glu8045Ala)
c.24131A>C (p.Glu8044Ala)
c.24128A>C (p.Glu8043Ala)
c.24284A>C (p.Glu8095Ala)
c.24122A>C (p.Glu8041Ala)
c.22562A>C (p.Glu7521Ala)
c.22055A>C (p.Glu7352Ala)
c.17522A>C (p.Glu5841Ala)
c.857A>C (p.Glu286Ala)
c.24260A>C (p.Glu8087Ala)
c.24209A>C (p.Glu8070Ala)
6g.152152021C>ACA366086955SYNE1c.715G>T (p.Glu239Ter)
c.24250G>T (p.Glu8084Ter)
c.24037G>T (p.Glu8013Ter)
c.164G>T
c.22G>T (p.Glu8Ter)
c.23035G>T (p.Glu7679Ter)
n.929G>T
c.3016G>T (p.Glu1006Ter)
n.7942G>T
c.2188G>T (p.Glu730Ter)
n.7834G>T
n.795G>T
n.312G>T
n.1087G>T
c.24286G>T (p.Glu8096Ter)
c.24274G>T (p.Glu8092Ter)
c.24265G>T (p.Glu8089Ter)
c.24235G>T (p.Glu8079Ter)
c.24271G>T (p.Glu8091Ter)
c.24214G>T (p.Glu8072Ter)
c.24145G>T (p.Glu8049Ter)
c.24133G>T (p.Glu8045Ter)
c.24130G>T (p.Glu8044Ter)
c.24127G>T (p.Glu8043Ter)
c.24283G>T (p.Glu8095Ter)
c.24121G>T (p.Glu8041Ter)
c.22561G>T (p.Glu7521Ter)
c.22054G>T (p.Glu7352Ter)
c.17521G>T (p.Glu5841Ter)
c.856G>T (p.Glu286Ter)
c.24259G>T (p.Glu8087Ter)
c.24208G>T (p.Glu8070Ter)
 gnomAD v4
6g.152152021C=CA1673186874SYNE1c.715G= (p.Glu239=)
c.24250G= (p.Glu8084=)
c.24037G= (p.Glu8013=)
c.164G=
c.22G= (p.Glu8=)
c.23035G= (p.Glu7679=)
n.929G=
c.3016G= (p.Glu1006=)
n.7942G=
c.2188G= (p.Glu730=)
n.7834G=
n.795G=
n.312G=
n.1087G=
c.24286G= (p.Glu8096=)
c.24274G= (p.Glu8092=)
c.24265G= (p.Glu8089=)
c.24235G= (p.Glu8079=)
c.24271G= (p.Glu8091=)
c.24214G= (p.Glu8072=)
c.24145G= (p.Glu8049=)
c.24133G= (p.Glu8045=)
c.24130G= (p.Glu8044=)
c.24127G= (p.Glu8043=)
c.24283G= (p.Glu8095=)
c.24121G= (p.Glu8041=)
c.22561G= (p.Glu7521=)
c.22054G= (p.Glu7352=)
c.17521G= (p.Glu5841=)
c.856G= (p.Glu286=)
c.24259G= (p.Glu8087=)
c.24208G= (p.Glu8070=)
6g.152152021C>GCA366086954SYNE1c.715G>C (p.Glu239Gln)
c.24250G>C (p.Glu8084Gln)
c.24037G>C (p.Glu8013Gln)
c.164G>C
c.22G>C (p.Glu8Gln)
c.23035G>C (p.Glu7679Gln)
n.929G>C
c.3016G>C (p.Glu1006Gln)
n.7942G>C
c.2188G>C (p.Glu730Gln)
n.7834G>C
n.795G>C
n.312G>C
n.1087G>C
c.24286G>C (p.Glu8096Gln)
c.24274G>C (p.Glu8092Gln)
c.24265G>C (p.Glu8089Gln)
c.24235G>C (p.Glu8079Gln)
c.24271G>C (p.Glu8091Gln)
c.24214G>C (p.Glu8072Gln)
c.24145G>C (p.Glu8049Gln)
c.24133G>C (p.Glu8045Gln)
c.24130G>C (p.Glu8044Gln)
c.24127G>C (p.Glu8043Gln)
c.24283G>C (p.Glu8095Gln)
c.24121G>C (p.Glu8041Gln)
c.22561G>C (p.Glu7521Gln)
c.22054G>C (p.Glu7352Gln)
c.17521G>C (p.Glu5841Gln)
c.856G>C (p.Glu286Gln)
c.24259G>C (p.Glu8087Gln)
c.24208G>C (p.Glu8070Gln)
6g.152152021C>TCA150176472SYNE1c.715G>A (p.Glu239Lys)
c.24250G>A (p.Glu8084Lys)
c.24037G>A (p.Glu8013Lys)
c.164G>A
c.22G>A (p.Glu8Lys)
c.23035G>A (p.Glu7679Lys)
n.929G>A
c.3016G>A (p.Glu1006Lys)
n.7942G>A
c.2188G>A (p.Glu730Lys)
n.7834G>A
n.795G>A
n.312G>A
n.1087G>A
c.24286G>A (p.Glu8096Lys)
c.24274G>A (p.Glu8092Lys)
c.24265G>A (p.Glu8089Lys)
c.24235G>A (p.Glu8079Lys)
c.24271G>A (p.Glu8091Lys)
c.24214G>A (p.Glu8072Lys)
c.24145G>A (p.Glu8049Lys)
c.24133G>A (p.Glu8045Lys)
c.24130G>A (p.Glu8044Lys)
c.24127G>A (p.Glu8043Lys)
c.24283G>A (p.Glu8095Lys)
c.24121G>A (p.Glu8041Lys)
c.22561G>A (p.Glu7521Lys)
c.22054G>A (p.Glu7352Lys)
c.17521G>A (p.Glu5841Lys)
c.856G>A (p.Glu286Lys)
c.24259G>A (p.Glu8087Lys)
c.24208G>A (p.Glu8070Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152152022G>ACA4053232SYNE1c.714C>T (p.His238=)
c.24249C>T (p.His8083=)
c.24036C>T (p.His8012=)
c.163C>T
c.21C>T (p.His7=)
c.23034C>T (p.His7678=)
n.928C>T
c.3015C>T (p.His1005=)
n.7941C>T
c.2187C>T (p.His729=)
n.7833C>T
n.794C>T
n.311C>T
n.1086C>T
c.24285C>T (p.His8095=)
c.24273C>T (p.His8091=)
c.24264C>T (p.His8088=)
c.24234C>T (p.His8078=)
c.24270C>T (p.His8090=)
c.24213C>T (p.His8071=)
c.24144C>T (p.His8048=)
c.24132C>T (p.His8044=)
c.24129C>T (p.His8043=)
c.24126C>T (p.His8042=)
c.24282C>T (p.His8094=)
c.24120C>T (p.His8040=)
c.22560C>T (p.His7520=)
c.22053C>T (p.His7351=)
c.17520C>T (p.His5840=)
c.855C>T (p.His285=)
c.24258C>T (p.His8086=)
c.24207C>T (p.His8069=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152152022G>CCA4053233SYNE1c.714C>G (p.His238Gln)
c.24249C>G (p.His8083Gln)
c.24036C>G (p.His8012Gln)
c.163C>G
c.21C>G (p.His7Gln)
c.23034C>G (p.His7678Gln)
n.928C>G
c.3015C>G (p.His1005Gln)
n.7941C>G
c.2187C>G (p.His729Gln)
n.7833C>G
n.794C>G
n.311C>G
n.1086C>G
c.24285C>G (p.His8095Gln)
c.24273C>G (p.His8091Gln)
c.24264C>G (p.His8088Gln)
c.24234C>G (p.His8078Gln)
c.24270C>G (p.His8090Gln)
c.24213C>G (p.His8071Gln)
c.24144C>G (p.His8048Gln)
c.24132C>G (p.His8044Gln)
c.24129C>G (p.His8043Gln)
c.24126C>G (p.His8042Gln)
c.24282C>G (p.His8094Gln)
c.24120C>G (p.His8040Gln)
c.22560C>G (p.His7520Gln)
c.22053C>G (p.His7351Gln)
c.17520C>G (p.His5840Gln)
c.855C>G (p.His285Gln)
c.24258C>G (p.His8086Gln)
c.24207C>G (p.His8069Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152152022G=CA1673186884SYNE1c.714C= (p.His238=)
c.24249C= (p.His8083=)
c.24036C= (p.His8012=)
c.163C=
c.21C= (p.His7=)
c.23034C= (p.His7678=)
n.928C=
c.3015C= (p.His1005=)
n.7941C=
c.2187C= (p.His729=)
n.7833C=
n.794C=
n.311C=
n.1086C=
c.24285C= (p.His8095=)
c.24273C= (p.His8091=)
c.24264C= (p.His8088=)
c.24234C= (p.His8078=)
c.24270C= (p.His8090=)
c.24213C= (p.His8071=)
c.24144C= (p.His8048=)
c.24132C= (p.His8044=)
c.24129C= (p.His8043=)
c.24126C= (p.His8042=)
c.24282C= (p.His8094=)
c.24120C= (p.His8040=)
c.22560C= (p.His7520=)
c.22053C= (p.His7351=)
c.17520C= (p.His5840=)
c.855C= (p.His285=)
c.24258C= (p.His8086=)
c.24207C= (p.His8069=)
6g.152152022G>TCA366086956SYNE1c.714C>A (p.His238Gln)
c.24249C>A (p.His8083Gln)
c.24036C>A (p.His8012Gln)
c.163C>A
c.21C>A (p.His7Gln)
c.23034C>A (p.His7678Gln)
n.928C>A
c.3015C>A (p.His1005Gln)
n.7941C>A
c.2187C>A (p.His729Gln)
n.7833C>A
n.794C>A
n.311C>A
n.1086C>A
c.24285C>A (p.His8095Gln)
c.24273C>A (p.His8091Gln)
c.24264C>A (p.His8088Gln)
c.24234C>A (p.His8078Gln)
c.24270C>A (p.His8090Gln)
c.24213C>A (p.His8071Gln)
c.24144C>A (p.His8048Gln)
c.24132C>A (p.His8044Gln)
c.24129C>A (p.His8043Gln)
c.24126C>A (p.His8042Gln)
c.24282C>A (p.His8094Gln)
c.24120C>A (p.His8040Gln)
c.22560C>A (p.His7520Gln)
c.22053C>A (p.His7351Gln)
c.17520C>A (p.His5840Gln)
c.855C>A (p.His285Gln)
c.24258C>A (p.His8086Gln)
c.24207C>A (p.His8069Gln)
6g.152152023T>ACA366086957SYNE1c.713A>T (p.His238Leu)
c.24248A>T (p.His8083Leu)
c.24035A>T (p.His8012Leu)
c.162A>T
c.20A>T (p.His7Leu)
c.23033A>T (p.His7678Leu)
n.927A>T
c.3014A>T (p.His1005Leu)
n.7940A>T
c.2186A>T (p.His729Leu)
n.7832A>T
n.793A>T
n.310A>T
n.1085A>T
c.24284A>T (p.His8095Leu)
c.24272A>T (p.His8091Leu)
c.24263A>T (p.His8088Leu)
c.24233A>T (p.His8078Leu)
c.24269A>T (p.His8090Leu)
c.24212A>T (p.His8071Leu)
c.24143A>T (p.His8048Leu)
c.24131A>T (p.His8044Leu)
c.24128A>T (p.His8043Leu)
c.24125A>T (p.His8042Leu)
c.24281A>T (p.His8094Leu)
c.24119A>T (p.His8040Leu)
c.22559A>T (p.His7520Leu)
c.22052A>T (p.His7351Leu)
c.17519A>T (p.His5840Leu)
c.854A>T (p.His285Leu)
c.24257A>T (p.His8086Leu)
c.24206A>T (p.His8069Leu)
6g.152152023T>CCA366086958SYNE1c.713A>G (p.His238Arg)
c.24248A>G (p.His8083Arg)
c.24035A>G (p.His8012Arg)
c.162A>G
c.20A>G (p.His7Arg)
c.23033A>G (p.His7678Arg)
n.927A>G
c.3014A>G (p.His1005Arg)
n.7940A>G
c.2186A>G (p.His729Arg)
n.7832A>G
n.793A>G
n.310A>G
n.1085A>G
c.24284A>G (p.His8095Arg)
c.24272A>G (p.His8091Arg)
c.24263A>G (p.His8088Arg)
c.24233A>G (p.His8078Arg)
c.24269A>G (p.His8090Arg)
c.24212A>G (p.His8071Arg)
c.24143A>G (p.His8048Arg)
c.24131A>G (p.His8044Arg)
c.24128A>G (p.His8043Arg)
c.24125A>G (p.His8042Arg)
c.24281A>G (p.His8094Arg)
c.24119A>G (p.His8040Arg)
c.22559A>G (p.His7520Arg)
c.22052A>G (p.His7351Arg)
c.17519A>G (p.His5840Arg)
c.854A>G (p.His285Arg)
c.24257A>G (p.His8086Arg)
c.24206A>G (p.His8069Arg)
 ClinVar
6g.152152023T>GCA366086959SYNE1c.713A>C (p.His238Pro)
c.24248A>C (p.His8083Pro)
c.24035A>C (p.His8012Pro)
c.162A>C
c.20A>C (p.His7Pro)
c.23033A>C (p.His7678Pro)
n.927A>C
c.3014A>C (p.His1005Pro)
n.7940A>C
c.2186A>C (p.His729Pro)
n.7832A>C
n.793A>C
n.310A>C
n.1085A>C
c.24284A>C (p.His8095Pro)
c.24272A>C (p.His8091Pro)
c.24263A>C (p.His8088Pro)
c.24233A>C (p.His8078Pro)
c.24269A>C (p.His8090Pro)
c.24212A>C (p.His8071Pro)
c.24143A>C (p.His8048Pro)
c.24131A>C (p.His8044Pro)
c.24128A>C (p.His8043Pro)
c.24125A>C (p.His8042Pro)
c.24281A>C (p.His8094Pro)
c.24119A>C (p.His8040Pro)
c.22559A>C (p.His7520Pro)
c.22052A>C (p.His7351Pro)
c.17519A>C (p.His5840Pro)
c.854A>C (p.His285Pro)
c.24257A>C (p.His8086Pro)
c.24206A>C (p.His8069Pro)
6g.152152024G>ACA366086960SYNE1c.712C>T (p.His238Tyr)
c.24247C>T (p.His8083Tyr)
c.24034C>T (p.His8012Tyr)
c.161C>T
c.19C>T (p.His7Tyr)
c.23032C>T (p.His7678Tyr)
n.926C>T
c.3013C>T (p.His1005Tyr)
n.7939C>T
c.2185C>T (p.His729Tyr)
n.7831C>T
n.792C>T
n.309C>T
n.1084C>T
c.24283C>T (p.His8095Tyr)
c.24271C>T (p.His8091Tyr)
c.24262C>T (p.His8088Tyr)
c.24232C>T (p.His8078Tyr)
c.24268C>T (p.His8090Tyr)
c.24211C>T (p.His8071Tyr)
c.24142C>T (p.His8048Tyr)
c.24130C>T (p.His8044Tyr)
c.24127C>T (p.His8043Tyr)
c.24124C>T (p.His8042Tyr)
c.24280C>T (p.His8094Tyr)
c.24118C>T (p.His8040Tyr)
c.22558C>T (p.His7520Tyr)
c.22051C>T (p.His7351Tyr)
c.17518C>T (p.His5840Tyr)
c.853C>T (p.His285Tyr)
c.24256C>T (p.His8086Tyr)
c.24205C>T (p.His8069Tyr)
 dbSNP gnomAD v4
6g.152152024G>CCA366086962SYNE1c.712C>G (p.His238Asp)
c.24247C>G (p.His8083Asp)
c.24034C>G (p.His8012Asp)
c.161C>G
c.19C>G (p.His7Asp)
c.23032C>G (p.His7678Asp)
n.926C>G
c.3013C>G (p.His1005Asp)
n.7939C>G
c.2185C>G (p.His729Asp)
n.7831C>G
n.792C>G
n.309C>G
n.1084C>G
c.24283C>G (p.His8095Asp)
c.24271C>G (p.His8091Asp)
c.24262C>G (p.His8088Asp)
c.24232C>G (p.His8078Asp)
c.24268C>G (p.His8090Asp)
c.24211C>G (p.His8071Asp)
c.24142C>G (p.His8048Asp)
c.24130C>G (p.His8044Asp)
c.24127C>G (p.His8043Asp)
c.24124C>G (p.His8042Asp)
c.24280C>G (p.His8094Asp)
c.24118C>G (p.His8040Asp)
c.22558C>G (p.His7520Asp)
c.22051C>G (p.His7351Asp)
c.17518C>G (p.His5840Asp)
c.853C>G (p.His285Asp)
c.24256C>G (p.His8086Asp)
c.24205C>G (p.His8069Asp)
6g.152152024G=CA1673186892SYNE1c.712C= (p.His238=)
c.24247C= (p.His8083=)
c.24034C= (p.His8012=)
c.161C=
c.19C= (p.His7=)
c.23032C= (p.His7678=)
n.926C=
c.3013C= (p.His1005=)
n.7939C=
c.2185C= (p.His729=)
n.7831C=
n.792C=
n.309C=
n.1084C=
c.24283C= (p.His8095=)
c.24271C= (p.His8091=)
c.24262C= (p.His8088=)
c.24232C= (p.His8078=)
c.24268C= (p.His8090=)
c.24211C= (p.His8071=)
c.24142C= (p.His8048=)
c.24130C= (p.His8044=)
c.24127C= (p.His8043=)
c.24124C= (p.His8042=)
c.24280C= (p.His8094=)
c.24118C= (p.His8040=)
c.22558C= (p.His7520=)
c.22051C= (p.His7351=)
c.17518C= (p.His5840=)
c.853C= (p.His285=)
c.24256C= (p.His8086=)
c.24205C= (p.His8069=)
6g.152152024G>TCA366086961SYNE1c.712C>A (p.His238Asn)
c.24247C>A (p.His8083Asn)
c.24034C>A (p.His8012Asn)
c.161C>A
c.19C>A (p.His7Asn)
c.23032C>A (p.His7678Asn)
n.926C>A
c.3013C>A (p.His1005Asn)
n.7939C>A
c.2185C>A (p.His729Asn)
n.7831C>A
n.792C>A
n.309C>A
n.1084C>A
c.24283C>A (p.His8095Asn)
c.24271C>A (p.His8091Asn)
c.24262C>A (p.His8088Asn)
c.24232C>A (p.His8078Asn)
c.24268C>A (p.His8090Asn)
c.24211C>A (p.His8071Asn)
c.24142C>A (p.His8048Asn)
c.24130C>A (p.His8044Asn)
c.24127C>A (p.His8043Asn)
c.24124C>A (p.His8042Asn)
c.24280C>A (p.His8094Asn)
c.24118C>A (p.His8040Asn)
c.22558C>A (p.His7520Asn)
c.22051C>A (p.His7351Asn)
c.17518C>A (p.His5840Asn)
c.853C>A (p.His285Asn)
c.24256C>A (p.His8086Asn)
c.24205C>A (p.His8069Asn)
6g.152152025A>CCA452748321SYNE1c.711T>G (p.Val237=)
c.24246T>G (p.Val8082=)
c.24033T>G (p.Val8011=)
c.160T>G
c.18T>G (p.Val6=)
c.23031T>G (p.Val7677=)
n.925T>G
c.3012T>G (p.Val1004=)
n.7938T>G
c.2184T>G (p.Val728=)
n.7830T>G
n.791T>G
n.308T>G
n.1083T>G
c.24282T>G (p.Val8094=)
c.24270T>G (p.Val8090=)
c.24261T>G (p.Val8087=)
c.24231T>G (p.Val8077=)
c.24267T>G (p.Val8089=)
c.24210T>G (p.Val8070=)
c.24141T>G (p.Val8047=)
c.24129T>G (p.Val8043=)
c.24126T>G (p.Val8042=)
c.24123T>G (p.Val8041=)
c.24279T>G (p.Val8093=)
c.24117T>G (p.Val8039=)
c.22557T>G (p.Val7519=)
c.22050T>G (p.Val7350=)
c.17517T>G (p.Val5839=)
c.852T>G (p.Val284=)
c.24255T>G (p.Val8085=)
c.24204T>G (p.Val8068=)
6g.152152025A>GCA452748323SYNE1c.711T>C (p.Val237=)
c.24246T>C (p.Val8082=)
c.24033T>C (p.Val8011=)
c.160T>C
c.18T>C (p.Val6=)
c.23031T>C (p.Val7677=)
n.925T>C
c.3012T>C (p.Val1004=)
n.7938T>C
c.2184T>C (p.Val728=)
n.7830T>C
n.791T>C
n.308T>C
n.1083T>C
c.24282T>C (p.Val8094=)
c.24270T>C (p.Val8090=)
c.24261T>C (p.Val8087=)
c.24231T>C (p.Val8077=)
c.24267T>C (p.Val8089=)
c.24210T>C (p.Val8070=)
c.24141T>C (p.Val8047=)
c.24129T>C (p.Val8043=)
c.24126T>C (p.Val8042=)
c.24123T>C (p.Val8041=)
c.24279T>C (p.Val8093=)
c.24117T>C (p.Val8039=)
c.22557T>C (p.Val7519=)
c.22050T>C (p.Val7350=)
c.17517T>C (p.Val5839=)
c.852T>C (p.Val284=)
c.24255T>C (p.Val8085=)
c.24204T>C (p.Val8068=)
6g.152152025A>TCA452748322SYNE1c.711T>A (p.Val237=)
c.24246T>A (p.Val8082=)
c.24033T>A (p.Val8011=)
c.160T>A
c.18T>A (p.Val6=)
c.23031T>A (p.Val7677=)
n.925T>A
c.3012T>A (p.Val1004=)
n.7938T>A
c.2184T>A (p.Val728=)
n.7830T>A
n.791T>A
n.308T>A
n.1083T>A
c.24282T>A (p.Val8094=)
c.24270T>A (p.Val8090=)
c.24261T>A (p.Val8087=)
c.24231T>A (p.Val8077=)
c.24267T>A (p.Val8089=)
c.24210T>A (p.Val8070=)
c.24141T>A (p.Val8047=)
c.24129T>A (p.Val8043=)
c.24126T>A (p.Val8042=)
c.24123T>A (p.Val8041=)
c.24279T>A (p.Val8093=)
c.24117T>A (p.Val8039=)
c.22557T>A (p.Val7519=)
c.22050T>A (p.Val7350=)
c.17517T>A (p.Val5839=)
c.852T>A (p.Val284=)
c.24255T>A (p.Val8085=)
c.24204T>A (p.Val8068=)
6g.152152026A>CCA366086963SYNE1c.710T>G (p.Val237Gly)
c.24245T>G (p.Val8082Gly)
c.24032T>G (p.Val8011Gly)
c.159T>G
c.17T>G (p.Val6Gly)
c.23030T>G (p.Val7677Gly)
n.924T>G
c.3011T>G (p.Val1004Gly)
n.7937T>G
c.2183T>G (p.Val728Gly)
n.7829T>G
n.790T>G
n.307T>G
n.1082T>G
c.24281T>G (p.Val8094Gly)
c.24269T>G (p.Val8090Gly)
c.24260T>G (p.Val8087Gly)
c.24230T>G (p.Val8077Gly)
c.24266T>G (p.Val8089Gly)
c.24209T>G (p.Val8070Gly)
c.24140T>G (p.Val8047Gly)
c.24128T>G (p.Val8043Gly)
c.24125T>G (p.Val8042Gly)
c.24122T>G (p.Val8041Gly)
c.24278T>G (p.Val8093Gly)
c.24116T>G (p.Val8039Gly)
c.22556T>G (p.Val7519Gly)
c.22049T>G (p.Val7350Gly)
c.17516T>G (p.Val5839Gly)
c.851T>G (p.Val284Gly)
c.24254T>G (p.Val8085Gly)
c.24203T>G (p.Val8068Gly)
6g.152152026A>GCA366086964SYNE1c.710T>C (p.Val237Ala)
c.24245T>C (p.Val8082Ala)
c.24032T>C (p.Val8011Ala)
c.159T>C
c.17T>C (p.Val6Ala)
c.23030T>C (p.Val7677Ala)
n.924T>C
c.3011T>C (p.Val1004Ala)
n.7937T>C
c.2183T>C (p.Val728Ala)
n.7829T>C
n.790T>C
n.307T>C
n.1082T>C
c.24281T>C (p.Val8094Ala)
c.24269T>C (p.Val8090Ala)
c.24260T>C (p.Val8087Ala)
c.24230T>C (p.Val8077Ala)
c.24266T>C (p.Val8089Ala)
c.24209T>C (p.Val8070Ala)
c.24140T>C (p.Val8047Ala)
c.24128T>C (p.Val8043Ala)
c.24125T>C (p.Val8042Ala)
c.24122T>C (p.Val8041Ala)
c.24278T>C (p.Val8093Ala)
c.24116T>C (p.Val8039Ala)
c.22556T>C (p.Val7519Ala)
c.22049T>C (p.Val7350Ala)
c.17516T>C (p.Val5839Ala)
c.851T>C (p.Val284Ala)
c.24254T>C (p.Val8085Ala)
c.24203T>C (p.Val8068Ala)
6g.152152026A>TCA366086965SYNE1c.710T>A (p.Val237Asp)
c.24245T>A (p.Val8082Asp)
c.24032T>A (p.Val8011Asp)
c.159T>A
c.17T>A (p.Val6Asp)
c.23030T>A (p.Val7677Asp)
n.924T>A
c.3011T>A (p.Val1004Asp)
n.7937T>A
c.2183T>A (p.Val728Asp)
n.7829T>A
n.790T>A
n.307T>A
n.1082T>A
c.24281T>A (p.Val8094Asp)
c.24269T>A (p.Val8090Asp)
c.24260T>A (p.Val8087Asp)
c.24230T>A (p.Val8077Asp)
c.24266T>A (p.Val8089Asp)
c.24209T>A (p.Val8070Asp)
c.24140T>A (p.Val8047Asp)
c.24128T>A (p.Val8043Asp)
c.24125T>A (p.Val8042Asp)
c.24122T>A (p.Val8041Asp)
c.24278T>A (p.Val8093Asp)
c.24116T>A (p.Val8039Asp)
c.22556T>A (p.Val7519Asp)
c.22049T>A (p.Val7350Asp)
c.17516T>A (p.Val5839Asp)
c.851T>A (p.Val284Asp)
c.24254T>A (p.Val8085Asp)
c.24203T>A (p.Val8068Asp)
6g.152152027C>ACA366086966SYNE1c.709G>T (p.Val237Phe)
c.24244G>T (p.Val8082Phe)
c.24031G>T (p.Val8011Phe)
c.158G>T
c.16G>T (p.Val6Phe)
c.23029G>T (p.Val7677Phe)
n.923G>T
c.3010G>T (p.Val1004Phe)
n.7936G>T
c.2182G>T (p.Val728Phe)
n.7828G>T
n.789G>T
n.306G>T
n.1081G>T
c.24280G>T (p.Val8094Phe)
c.24268G>T (p.Val8090Phe)
c.24259G>T (p.Val8087Phe)
c.24229G>T (p.Val8077Phe)
c.24265G>T (p.Val8089Phe)
c.24208G>T (p.Val8070Phe)
c.24139G>T (p.Val8047Phe)
c.24127G>T (p.Val8043Phe)
c.24124G>T (p.Val8042Phe)
c.24121G>T (p.Val8041Phe)
c.24277G>T (p.Val8093Phe)
c.24115G>T (p.Val8039Phe)
c.22555G>T (p.Val7519Phe)
c.22048G>T (p.Val7350Phe)
c.17515G>T (p.Val5839Phe)
c.850G>T (p.Val284Phe)
c.24253G>T (p.Val8085Phe)
c.24202G>T (p.Val8068Phe)
6g.152152027C=CA1673186898SYNE1c.709G= (p.Val237=)
c.24244G= (p.Val8082=)
c.24031G= (p.Val8011=)
c.158G=
c.16G= (p.Val6=)
c.23029G= (p.Val7677=)
n.923G=
c.3010G= (p.Val1004=)
n.7936G=
c.2182G= (p.Val728=)
n.7828G=
n.789G=
n.306G=
n.1081G=
c.24280G= (p.Val8094=)
c.24268G= (p.Val8090=)
c.24259G= (p.Val8087=)
c.24229G= (p.Val8077=)
c.24265G= (p.Val8089=)
c.24208G= (p.Val8070=)
c.24139G= (p.Val8047=)
c.24127G= (p.Val8043=)
c.24124G= (p.Val8042=)
c.24121G= (p.Val8041=)
c.24277G= (p.Val8093=)
c.24115G= (p.Val8039=)
c.22555G= (p.Val7519=)
c.22048G= (p.Val7350=)
c.17515G= (p.Val5839=)
c.850G= (p.Val284=)
c.24253G= (p.Val8085=)
c.24202G= (p.Val8068=)
6g.152152027C>GCA366086967SYNE1c.709G>C (p.Val237Leu)
c.24244G>C (p.Val8082Leu)
c.24031G>C (p.Val8011Leu)
c.158G>C
c.16G>C (p.Val6Leu)
c.23029G>C (p.Val7677Leu)
n.923G>C
c.3010G>C (p.Val1004Leu)
n.7936G>C
c.2182G>C (p.Val728Leu)
n.7828G>C
n.789G>C
n.306G>C
n.1081G>C
c.24280G>C (p.Val8094Leu)
c.24268G>C (p.Val8090Leu)
c.24259G>C (p.Val8087Leu)
c.24229G>C (p.Val8077Leu)
c.24265G>C (p.Val8089Leu)
c.24208G>C (p.Val8070Leu)
c.24139G>C (p.Val8047Leu)
c.24127G>C (p.Val8043Leu)
c.24124G>C (p.Val8042Leu)
c.24121G>C (p.Val8041Leu)
c.24277G>C (p.Val8093Leu)
c.24115G>C (p.Val8039Leu)
c.22555G>C (p.Val7519Leu)
c.22048G>C (p.Val7350Leu)
c.17515G>C (p.Val5839Leu)
c.850G>C (p.Val284Leu)
c.24253G>C (p.Val8085Leu)
c.24202G>C (p.Val8068Leu)
6g.152152027C>TCA4053234SYNE1c.709G>A (p.Val237Ile)
c.24244G>A (p.Val8082Ile)
c.24031G>A (p.Val8011Ile)
c.158G>A
c.16G>A (p.Val6Ile)
c.23029G>A (p.Val7677Ile)
n.923G>A
c.3010G>A (p.Val1004Ile)
n.7936G>A
c.2182G>A (p.Val728Ile)
n.7828G>A
n.789G>A
n.306G>A
n.1081G>A
c.24280G>A (p.Val8094Ile)
c.24268G>A (p.Val8090Ile)
c.24259G>A (p.Val8087Ile)
c.24229G>A (p.Val8077Ile)
c.24265G>A (p.Val8089Ile)
c.24208G>A (p.Val8070Ile)
c.24139G>A (p.Val8047Ile)
c.24127G>A (p.Val8043Ile)
c.24124G>A (p.Val8042Ile)
c.24121G>A (p.Val8041Ile)
c.24277G>A (p.Val8093Ile)
c.24115G>A (p.Val8039Ile)
c.22555G>A (p.Val7519Ile)
c.22048G>A (p.Val7350Ile)
c.17515G>A (p.Val5839Ile)
c.850G>A (p.Val284Ile)
c.24253G>A (p.Val8085Ile)
c.24202G>A (p.Val8068Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152152028C>ACA366086968SYNE1c.708G>T (p.Met236Ile)
c.24243G>T (p.Met8081Ile)
c.24030G>T (p.Met8010Ile)
c.157G>T
c.15G>T (p.Met5Ile)
c.23028G>T (p.Met7676Ile)
n.922G>T
c.3009G>T (p.Met1003Ile)
n.7935G>T
c.2181G>T (p.Met727Ile)
n.7827G>T
n.788G>T
n.305G>T
n.1080G>T
c.24279G>T (p.Met8093Ile)
c.24267G>T (p.Met8089Ile)
c.24258G>T (p.Met8086Ile)
c.24228G>T (p.Met8076Ile)
c.24264G>T (p.Met8088Ile)
c.24207G>T (p.Met8069Ile)
c.24138G>T (p.Met8046Ile)
c.24126G>T (p.Met8042Ile)
c.24123G>T (p.Met8041Ile)
c.24120G>T (p.Met8040Ile)
c.24276G>T (p.Met8092Ile)
c.24114G>T (p.Met8038Ile)
c.22554G>T (p.Met7518Ile)
c.22047G>T (p.Met7349Ile)
c.17514G>T (p.Met5838Ile)
c.849G>T (p.Met283Ile)
c.24252G>T (p.Met8084Ile)
c.24201G>T (p.Met8067Ile)
6g.152152028C>GCA366086969SYNE1c.708G>C (p.Met236Ile)
c.24243G>C (p.Met8081Ile)
c.24030G>C (p.Met8010Ile)
c.157G>C
c.15G>C (p.Met5Ile)
c.23028G>C (p.Met7676Ile)
n.922G>C
c.3009G>C (p.Met1003Ile)
n.7935G>C
c.2181G>C (p.Met727Ile)
n.7827G>C
n.788G>C
n.305G>C
n.1080G>C
c.24279G>C (p.Met8093Ile)
c.24267G>C (p.Met8089Ile)
c.24258G>C (p.Met8086Ile)
c.24228G>C (p.Met8076Ile)
c.24264G>C (p.Met8088Ile)
c.24207G>C (p.Met8069Ile)
c.24138G>C (p.Met8046Ile)
c.24126G>C (p.Met8042Ile)
c.24123G>C (p.Met8041Ile)
c.24120G>C (p.Met8040Ile)
c.24276G>C (p.Met8092Ile)
c.24114G>C (p.Met8038Ile)
c.22554G>C (p.Met7518Ile)
c.22047G>C (p.Met7349Ile)
c.17514G>C (p.Met5838Ile)
c.849G>C (p.Met283Ile)
c.24252G>C (p.Met8084Ile)
c.24201G>C (p.Met8067Ile)
6g.152152028C>TCA366086970SYNE1c.708G>A (p.Met236Ile)
c.24243G>A (p.Met8081Ile)
c.24030G>A (p.Met8010Ile)
c.157G>A
c.15G>A (p.Met5Ile)
c.23028G>A (p.Met7676Ile)
n.922G>A
c.3009G>A (p.Met1003Ile)
n.7935G>A
c.2181G>A (p.Met727Ile)
n.7827G>A
n.788G>A
n.305G>A
n.1080G>A
c.24279G>A (p.Met8093Ile)
c.24267G>A (p.Met8089Ile)
c.24258G>A (p.Met8086Ile)
c.24228G>A (p.Met8076Ile)
c.24264G>A (p.Met8088Ile)
c.24207G>A (p.Met8069Ile)
c.24138G>A (p.Met8046Ile)
c.24126G>A (p.Met8042Ile)
c.24123G>A (p.Met8041Ile)
c.24120G>A (p.Met8040Ile)
c.24276G>A (p.Met8092Ile)
c.24114G>A (p.Met8038Ile)
c.22554G>A (p.Met7518Ile)
c.22047G>A (p.Met7349Ile)
c.17514G>A (p.Met5838Ile)
c.849G>A (p.Met283Ile)
c.24252G>A (p.Met8084Ile)
c.24201G>A (p.Met8067Ile)
6g.152152028_152152029delinsCACA1673186902SYNE1c.707_708delinsTG (p.Met236=)
c.24242_24243delinsTG (p.Met8081=)
c.24029_24030delinsTG (p.Met8010=)
c.156_157delinsTG
c.14_15delinsTG (p.Met5=)
c.23027_23028delinsTG (p.Met7676=)
n.921_922delinsTG
c.3008_3009delinsTG (p.Met1003=)
n.7934_7935delinsTG
c.2180_2181delinsTG (p.Met727=)
n.7826_7827delinsTG
n.787_788delinsTG
n.304_305delinsTG
n.1079_1080delinsTG
c.24278_24279delinsTG (p.Met8093=)
c.24266_24267delinsTG (p.Met8089=)
c.24257_24258delinsTG (p.Met8086=)
c.24227_24228delinsTG (p.Met8076=)
c.24263_24264delinsTG (p.Met8088=)
c.24206_24207delinsTG (p.Met8069=)
c.24137_24138delinsTG (p.Met8046=)
c.24125_24126delinsTG (p.Met8042=)
c.24122_24123delinsTG (p.Met8041=)
c.24119_24120delinsTG (p.Met8040=)
c.24275_24276delinsTG (p.Met8092=)
c.24113_24114delinsTG (p.Met8038=)
c.22553_22554delinsTG (p.Met7518=)
c.22046_22047delinsTG (p.Met7349=)
c.17513_17514delinsTG (p.Met5838=)
c.848_849delinsTG (p.Met283=)
c.24251_24252delinsTG (p.Met8084=)
c.24200_24201delinsTG (p.Met8067=)

Number of alleles fetched