NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00013
|
NM_182961.4(SYNE1):c.17682+1G>A
|
rs1064796579
|
0.00003
|
NM_182961.4(SYNE1):c.24129+2T>C
|
rs544985182
|
0.00003
|
NM_182961.4(SYNE1):c.12528+1G>A
|
rs1012514808
|
0.00001
|
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)
|
rs752224921
|
0.00001
|
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter)
|
rs1193193335
|
0.00001
|
NM_182961.4(SYNE1):c.6723+1G>C
|
rs779302145
|
0.00001
|
NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter)
|
rs780991031
|
0.00001
|
NC_000006.11:g.(?_152466612)_(152643033_?)dup
|
|
|
NC_000006.11:g.(?_152652198)_(152658654_?)del
|
|
|
NC_000006.11:g.(?_152716631)_(152765733_?)dup
|
|
|
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
|
|
|
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
|
|
|
NM_182961.4(SYNE1):c.10145+1G>A
|
rs1563391747
|
|
NM_182961.4(SYNE1):c.10608+1G>C
|
rs1590998146
|
|
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
|
|
|
NM_182961.4(SYNE1):c.11894_11895del (p.His3965fs)
|
|
|
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs)
|
rs2096651533
|
|
NM_182961.4(SYNE1):c.12079-2A>T
|
rs2154019221
|
|
NM_182961.4(SYNE1):c.12351+2T>C
|
rs2154000325
|
|
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs)
|
rs2096322248
|
|
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs)
|
rs1064794555
|
|
NM_182961.4(SYNE1):c.15837_15917+69del
|
rs2153937126
|
|
NM_182961.4(SYNE1):c.16237-2A>G
|
rs2153903647
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
NM_182961.4(SYNE1):c.18157C>T (p.Arg6053Ter)
|
|
|
NM_182961.4(SYNE1):c.18208-1G>A
|
rs2153725036
|
|
NM_182961.4(SYNE1):c.18866C>A (p.Ser6289Ter)
|
|
|
NM_182961.4(SYNE1):c.19260+1G>C
|
|
|
NM_182961.4(SYNE1):c.19260+1G>T
|
|
|
NM_182961.4(SYNE1):c.19260+2T>C
|
rs1588855714
|
|
NM_182961.4(SYNE1):c.1933-2A>G
|
rs1554753528
|
|
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter)
|
rs2090447154
|
|
NM_182961.4(SYNE1):c.19839del (p.Ile6615fs)
|
|
|
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs)
|
rs2083582255
|
|
NM_182961.4(SYNE1):c.22590-1G>A
|
rs2153409815
|
|
NM_182961.4(SYNE1):c.22824+2T>A
|
|
|
NM_182961.4(SYNE1):c.23790+1G>A
|
rs2153025020
|
|
NM_182961.4(SYNE1):c.2394+1G>A
|
|
|
NM_182961.4(SYNE1):c.2568+1G>A
|
rs2154261629
|
|
NM_182961.4(SYNE1):c.3396-10_3396delinsC
|
rs863224929
|
|
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter)
|
rs2098603169
|
|
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs)
|
rs797045109
|
|
NM_182961.4(SYNE1):c.4310+1G>A
|
|
|
NM_182961.4(SYNE1):c.434T>A (p.Leu145His)
|
rs755531859
|
|
NM_182961.4(SYNE1):c.5267G>A (p.Arg1756Lys)
|
|
|
NM_182961.4(SYNE1):c.67+2T>A
|
rs762743107
|
|
NM_182961.4(SYNE1):c.888+2T>A
|
rs754518742
|
|
NM_182961.4(SYNE1):c.888+2T>C
|
|
|