|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
|
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)
|
rs863225143
|
0.00001
|
|
NM_182961.4(SYNE1):c.12528+1G>A
|
rs1012514808
|
0.00001
|
|
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter)
|
rs1193193335
|
0.00001
|
|
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)
|
rs1057518011
|
|
|
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs)
|
rs2144956632
|
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
|
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)
|
rs1555738369
|
|
|
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu)
|
rs2144936093
|
|
|
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)
|
rs1553757628
|
|
|
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)
|
rs752281590
|
|
|
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)
|
rs386833757
|
|
|
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)
|
rs2122988484
|
|
|
NM_002739.5(PRKCG):c.381G>T (p.Gln127His)
|
rs973767996
|
|
|
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro)
|
rs2122988688
|
|
|
NM_005861.4(STUB1):c.779A>C (p.His260Pro)
|
rs2151506687
|
|
|
NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del)
|
rs2137561854
|
|
|
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter)
|
rs747501465
|
|
|
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg)
|
rs863224919
|
|
|
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)
|
rs28937887
|
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
|
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter)
|
rs138032057
|
|
|
NM_182961.4(SYNE1):c.67+1G>A
|
rs1213042460
|
|