NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter)
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rs1760897843
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NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs)
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rs1060503378
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NM_006772.3(SYNGAP1):c.1167del (p.Gly391fs)
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NM_006772.3(SYNGAP1):c.1243G>T (p.Glu415Ter)
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rs1554121273
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NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter)
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rs2151170078
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NM_006772.3(SYNGAP1):c.1296dup (p.Ala433fs)
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rs1581987902
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NM_006772.3(SYNGAP1):c.1303_1304dup (p.Leu435fs)
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rs1760906699
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NM_006772.3(SYNGAP1):c.1345dup (p.Ser449fs)
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rs1554121295
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NM_006772.3(SYNGAP1):c.14_27dup (p.Arg10fs)
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NM_006772.3(SYNGAP1):c.1531G>C (p.Gly511Arg)
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rs1554121365
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NM_006772.3(SYNGAP1):c.1602_1603del (p.Ser535fs)
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rs2151172527
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NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter)
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rs1554121443
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NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
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rs397514670
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NM_006772.3(SYNGAP1):c.1716G>A (p.Trp572Ter)
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rs1057518178
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NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
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rs1064795331
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NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter)
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rs121918316
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NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs)
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rs587780470
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NM_006772.3(SYNGAP1):c.1792del (p.Leu598fs)
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rs1131691635
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NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)
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rs1060503386
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NM_006772.3(SYNGAP1):c.1913+2T>G
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rs2151181133
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NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)
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rs1060503383
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NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter)
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rs1554121861
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NM_006772.3(SYNGAP1):c.2197C>T (p.Gln733Ter)
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rs1554121924
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NM_006772.3(SYNGAP1):c.2230C>T (p.Gln744Ter)
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rs1554121947
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NM_006772.3(SYNGAP1):c.2294+1G>A
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rs1554121970
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NM_006772.3(SYNGAP1):c.2294+1G>T
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rs1554121970
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NM_006772.3(SYNGAP1):c.2323C>T (p.Arg775Ter)
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rs1554122080
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NM_006772.3(SYNGAP1):c.2418del (p.Tyr807fs)
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rs1554122179
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NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs)
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rs397515320
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NM_006772.3(SYNGAP1):c.2454_2456delinsG (p.Ala819fs)
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rs1581995609
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NM_006772.3(SYNGAP1):c.2494C>T (p.Gln832Ter)
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rs1554122196
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NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter)
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rs1554122200
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NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter)
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rs1554122242
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NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter)
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rs1554122244
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NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter)
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rs749188610
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NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs)
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rs1064796547
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NM_006772.3(SYNGAP1):c.2974del (p.Val992fs)
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rs1761108186
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NM_006772.3(SYNGAP1):c.3036del (p.Ser1013fs)
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rs1554122289
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NM_006772.3(SYNGAP1):c.3061C>T (p.Gln1021Ter)
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|
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NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs)
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rs2151190135
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NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs)
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NM_006772.3(SYNGAP1):c.3227del (p.Gln1075_Leu1076insTer)
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rs1064796033
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NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs)
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rs1554122341
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NM_006772.3(SYNGAP1):c.3246delinsAA (p.Pro1084fs)
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rs1554122348
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NM_006772.3(SYNGAP1):c.3277C>T (p.Gln1093Ter)
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rs1554122363
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NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs)
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rs1581997098
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NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)
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rs1131691979
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NM_006772.3(SYNGAP1):c.3415_3416del (p.Gln1139fs)
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rs1554122457
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NM_006772.3(SYNGAP1):c.3471G>A (p.Trp1157Ter)
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rs1064796403
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NM_006772.3(SYNGAP1):c.355dup (p.Glu119fs)
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rs1554120489
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NM_006772.3(SYNGAP1):c.3583-6G>A
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rs869312674
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NM_006772.3(SYNGAP1):c.3583-9G>A
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rs1554122689
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NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)
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rs869312955
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NM_006772.3(SYNGAP1):c.388-1G>C
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|
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NM_006772.3(SYNGAP1):c.388-2A>C
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|
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NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
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rs1131692154
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NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter)
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rs397514741
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NM_006772.3(SYNGAP1):c.472C>T (p.Gln158Ter)
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rs1085307871
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NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys)
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rs1554120589
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NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)
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rs1057518352
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NM_006772.3(SYNGAP1):c.509+1G>A
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rs1561781989
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NM_006772.3(SYNGAP1):c.646C>T (p.Gln216Ter)
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rs1554120941
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NM_006772.3(SYNGAP1):c.718_719del (p.Asp240fs)
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rs1777306901
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NM_006772.3(SYNGAP1):c.763-1G>A
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|
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NM_006772.3(SYNGAP1):c.790_798del (p.Leu264_Leu266del)
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rs1554121164
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NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs)
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rs2151168473
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NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg)
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rs1581987022
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NM_006772.3(SYNGAP1):c.922T>C (p.Trp308Arg)
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rs1057524025
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NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys)
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rs1554121202
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NM_006772.3(SYNGAP1):c.926del (p.Gly309fs)
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rs1760890595
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NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)
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rs1554121206
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NM_006772.3(SYNGAP1):c.949del (p.Leu317fs)
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rs1554121211
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