NC_000006.12:g.(?_33420245)_(33451926_?)del
|
|
|
NC_000006.12:g.(?_33435132)_(33438311_?)del
|
|
|
NM_006772.3(SYNGAP1):c.1001del (p.Lys334fs)
|
rs1561784687
|
|
NM_006772.3(SYNGAP1):c.1022_1023del (p.Gly341fs)
|
rs2151169133
|
|
NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser)
|
rs1760893537
|
|
NM_006772.3(SYNGAP1):c.1053del (p.Thr352fs)
|
rs1554121228
|
|
NM_006772.3(SYNGAP1):c.1057_1072del (p.Leu353fs)
|
|
|
NM_006772.3(SYNGAP1):c.1084T>C (p.Trp362Arg)
|
rs1581987445
|
|
NM_006772.3(SYNGAP1):c.1089C>A (p.Tyr363Ter)
|
|
|
NM_006772.3(SYNGAP1):c.1094del (p.Val365fs)
|
rs1581987476
|
|
NM_006772.3(SYNGAP1):c.1117G>T (p.Gly373Ter)
|
rs1554121245
|
|
NM_006772.3(SYNGAP1):c.1127del (p.Gly376fs)
|
rs1760896816
|
|
NM_006772.3(SYNGAP1):c.1136C>A (p.Ser379Ter)
|
rs371883908
|
|
NM_006772.3(SYNGAP1):c.1139del (p.Gly380fs)
|
rs1760897529
|
|
NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter)
|
rs1760897843
|
|
NM_006772.3(SYNGAP1):c.1160dup (p.Gly388fs)
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|
|
NM_006772.3(SYNGAP1):c.1166C>A (p.Ser389Ter)
|
rs2151169721
|
|
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs)
|
rs1060503378
|
|
NM_006772.3(SYNGAP1):c.1167del (p.Gly391fs)
|
|
|
NM_006772.3(SYNGAP1):c.117T>G (p.Tyr39Ter)
|
|
|
NM_006772.3(SYNGAP1):c.1193del (p.Pro398fs)
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|
|
NM_006772.3(SYNGAP1):c.1219del (p.Gln407fs)
|
|
|
NM_006772.3(SYNGAP1):c.1235dup (p.Leu412fs)
|
rs1561785003
|
|
NM_006772.3(SYNGAP1):c.123del (p.Pro42fs)
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|
|
NM_006772.3(SYNGAP1):c.1243G>T (p.Glu415Ter)
|
rs1554121273
|
|
NM_006772.3(SYNGAP1):c.1253_1254del (p.Lys418fs)
|
rs1760905282
|
|
NM_006772.3(SYNGAP1):c.1267del (p.Tyr423fs)
|
|
|
NM_006772.3(SYNGAP1):c.1269T>G (p.Tyr423Ter)
|
rs1561785045
|
|
NM_006772.3(SYNGAP1):c.1273_1274del (p.Thr425fs)
|
rs1760905766
|
|
NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter)
|
rs2151170078
|
|
NM_006772.3(SYNGAP1):c.1296dup (p.Ala433fs)
|
rs1581987902
|
|
NM_006772.3(SYNGAP1):c.1303_1304dup (p.Leu435fs)
|
rs1760906699
|
|
NM_006772.3(SYNGAP1):c.1345dup (p.Ser449fs)
|
rs1554121295
|
|
NM_006772.3(SYNGAP1):c.1441_1444dup (p.Leu482fs)
|
|
|
NM_006772.3(SYNGAP1):c.1453del (p.Arg485fs)
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|
|
NM_006772.3(SYNGAP1):c.1466_1469del (p.Leu489fs)
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|
|
NM_006772.3(SYNGAP1):c.1492_1493del (p.Met498fs)
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|
|
NM_006772.3(SYNGAP1):c.1495del (p.Arg499fs)
|
rs1554121353
|
|
NM_006772.3(SYNGAP1):c.14_27dup (p.Arg10fs)
|
|
|
NM_006772.3(SYNGAP1):c.1531G>C (p.Gly511Arg)
|
rs1554121365
|
|
NM_006772.3(SYNGAP1):c.1532-3C>G
|
|
|
NM_006772.3(SYNGAP1):c.1534G>T (p.Glu512Ter)
|
rs2151172286
|
|
NM_006772.3(SYNGAP1):c.1554_1555delinsA (p.Tyr518_Glu519delinsTer)
|
|
|
NM_006772.3(SYNGAP1):c.1564del (p.Glu522fs)
|
rs2151172356
|
|
NM_006772.3(SYNGAP1):c.1576del (p.Glu525_Val526insTer)
|
rs797046028
|
|
NM_006772.3(SYNGAP1):c.1602_1603del (p.Ser535fs)
|
rs2151172527
|
|
NM_006772.3(SYNGAP1):c.1618C>T (p.Gln540Ter)
|
rs1554121438
|
|
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter)
|
rs1554121443
|
|
NM_006772.3(SYNGAP1):c.1640G>A (p.Cys547Tyr)
|
rs2151172652
|
|
NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer)
|
rs2151172644
|
|
NM_006772.3(SYNGAP1):c.1676+1G>A
|
rs2151172748
|
|
NM_006772.3(SYNGAP1):c.1677-3C>G
|
|
|
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
|
rs397514670
|
|
NM_006772.3(SYNGAP1):c.1685del (p.Pro562fs)
|
rs1057519405
|
|
NM_006772.3(SYNGAP1):c.1712C>A (p.Ser571Ter)
|
rs1554121682
|
|
NM_006772.3(SYNGAP1):c.1715G>C (p.Trp572Ser)
|
rs1554121684
|
|
NM_006772.3(SYNGAP1):c.1716G>A (p.Trp572Ter)
|
rs1057518178
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
NM_006772.3(SYNGAP1):c.1721del (p.Leu574fs)
|
rs1581991929
|
|
NM_006772.3(SYNGAP1):c.1728C>A (p.Cys576Ter)
|
|
|
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter)
|
rs121918316
|
|
NM_006772.3(SYNGAP1):c.1736_1740del (p.Arg579fs)
|
|
|
NM_006772.3(SYNGAP1):c.1744del (p.Glu582fs)
|
rs1761010258
|
|
NM_006772.3(SYNGAP1):c.1761del (p.Arg587fs)
|
|
|
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs)
|
rs587780470
|
|
NM_006772.3(SYNGAP1):c.1792del (p.Leu598fs)
|
rs1131691635
|
|
NM_006772.3(SYNGAP1):c.1823_1824del (p.Phe608fs)
|
rs1581992099
|
|
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)
|
rs1060503386
|
|
NM_006772.3(SYNGAP1):c.1891C>T (p.Gln631Ter)
|
rs1554121729
|
|
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)
|
rs1761021165
|
|
NM_006772.3(SYNGAP1):c.190-2A>C
|
rs1776941586
|
|
NM_006772.3(SYNGAP1):c.190-2A>G
|
rs1776941586
|
|
NM_006772.3(SYNGAP1):c.1902del (p.Asn635fs)
|
rs2151181087
|
|
NM_006772.3(SYNGAP1):c.1908_1909del (p.Ser637fs)
|
rs1057519400
|
|
NM_006772.3(SYNGAP1):c.1913+2T>G
|
rs2151181133
|
|
NM_006772.3(SYNGAP1):c.1913+5G>A
|
rs1761021575
|
|
NM_006772.3(SYNGAP1):c.199del (p.Leu67fs)
|
rs1554119814
|
|
NM_006772.3(SYNGAP1):c.200del (p.Leu67fs)
|
|
|
NM_006772.3(SYNGAP1):c.2014del (p.Thr672fs)
|
|
|
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)
|
rs1060503383
|
|
NM_006772.3(SYNGAP1):c.2066_2071delinsC (p.Leu689fs)
|
rs797046029
|
|
NM_006772.3(SYNGAP1):c.2090G>A (p.Trp697Ter)
|
|
|
NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter)
|
rs1554121861
|
|
NM_006772.3(SYNGAP1):c.2115+1G>C
|
|
|
NM_006772.3(SYNGAP1):c.2116-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.2135_2142del (p.Gly712fs)
|
rs1561787690
|
|
NM_006772.3(SYNGAP1):c.2147G>A (p.Arg716Gln)
|
rs1060503384
|
|
NM_006772.3(SYNGAP1):c.2197C>T (p.Gln733Ter)
|
rs1554121924
|
|
NM_006772.3(SYNGAP1):c.2209C>T (p.Gln737Ter)
|
rs1554121932
|
|
NM_006772.3(SYNGAP1):c.2215G>T (p.Glu739Ter)
|
rs1554121934
|
|
NM_006772.3(SYNGAP1):c.2230C>T (p.Gln744Ter)
|
rs1554121947
|
|
NM_006772.3(SYNGAP1):c.2234del (p.Pro745fs)
|
rs2151183929
|
|
NM_006772.3(SYNGAP1):c.2235_2238dup (p.Val747fs)
|
|
|
NM_006772.3(SYNGAP1):c.223G>T (p.Glu75Ter)
|
|
|
NM_006772.3(SYNGAP1):c.2266C>T (p.Gln756Ter)
|
rs1554121960
|
|
NM_006772.3(SYNGAP1):c.2272dup (p.Tyr758fs)
|
rs1561787845
|
|
NM_006772.3(SYNGAP1):c.2293del (p.Ser765fs)
|
rs1761050922
|
|
NM_006772.3(SYNGAP1):c.2294+1G>A
|
rs1554121970
|
|
NM_006772.3(SYNGAP1):c.2294+1G>T
|
rs1554121970
|
|
NM_006772.3(SYNGAP1):c.2323C>T (p.Arg775Ter)
|
rs1554122080
|
|
NM_006772.3(SYNGAP1):c.2350_2354dup (p.Pro787fs)
|
|
|
NM_006772.3(SYNGAP1):c.2354dup (p.Leu786fs)
|
|
|
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs)
|
rs1761087122
|
|
NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs)
|
rs1581995425
|
|
NM_006772.3(SYNGAP1):c.2387dup (p.Pro797fs)
|
rs1581995425
|
|
NM_006772.3(SYNGAP1):c.2391_2392dup (p.Pro798fs)
|
rs1581995453
|
|
NM_006772.3(SYNGAP1):c.2418del (p.Tyr807fs)
|
rs1554122179
|
|
NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs)
|
rs397515320
|
|
NM_006772.3(SYNGAP1):c.2450C>G (p.Ser817Ter)
|
rs2151188152
|
|
NM_006772.3(SYNGAP1):c.2454_2456delinsG (p.Ala819fs)
|
rs1581995609
|
|
NM_006772.3(SYNGAP1):c.2485G>A (p.Glu829Lys)
|
|
|
NM_006772.3(SYNGAP1):c.2494C>T (p.Gln832Ter)
|
rs1554122196
|
|
NM_006772.3(SYNGAP1):c.2516dup (p.Ser840fs)
|
rs2151188291
|
|
NM_006772.3(SYNGAP1):c.2538dup (p.Gln847fs)
|
rs2151188326
|
|
NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter)
|
rs1554122200
|
|
NM_006772.3(SYNGAP1):c.2550del (p.Pro851fs)
|
|
|
NM_006772.3(SYNGAP1):c.2562_2578del (p.Leu855fs)
|
rs1561788984
|
|
NM_006772.3(SYNGAP1):c.2578_2579del (p.Val860fs)
|
rs879253762
|
|
NM_006772.3(SYNGAP1):c.2591_2592del (p.Ala864fs)
|
|
|
NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs)
|
rs587780474
|
|
NM_006772.3(SYNGAP1):c.2667del (p.Arg890fs)
|
|
|
NM_006772.3(SYNGAP1):c.2677del (p.Gln893fs)
|
rs1581995953
|
|
NM_006772.3(SYNGAP1):c.2703_2715del (p.Ala902fs)
|
|
|
NM_006772.3(SYNGAP1):c.2717del (p.Leu906fs)
|
rs2151188826
|
|
NM_006772.3(SYNGAP1):c.2726del (p.Met909fs)
|
rs1561789215
|
|
NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter)
|
rs1554122242
|
|
NM_006772.3(SYNGAP1):c.2758C>T (p.Gln920Ter)
|
|
|
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter)
|
rs1554122244
|
|
NM_006772.3(SYNGAP1):c.276del (p.Arg93fs)
|
|
|
NM_006772.3(SYNGAP1):c.2776_2777del (p.Ser926fs)
|
|
|
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter)
|
rs1554122249
|
|
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs)
|
rs1554122252
|
|
NM_006772.3(SYNGAP1):c.2818_2852del (p.Gly940fs)
|
rs1561789313
|
|
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter)
|
rs749188610
|
|
NM_006772.3(SYNGAP1):c.28del (p.Arg10fs)
|
|
|
NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs)
|
rs1064796547
|
|
NM_006772.3(SYNGAP1):c.2946T>A (p.Tyr982Ter)
|
|
|
NM_006772.3(SYNGAP1):c.2955_2958del (p.Ser985fs)
|
|
|
NM_006772.3(SYNGAP1):c.2970del (p.Val992fs)
|
|
|
NM_006772.3(SYNGAP1):c.2974del (p.Val992fs)
|
rs1761108186
|
|
NM_006772.3(SYNGAP1):c.3036del (p.Ser1013fs)
|
rs1554122289
|
|
NM_006772.3(SYNGAP1):c.3055del (p.Arg1019fs)
|
|
|
NM_006772.3(SYNGAP1):c.3060del (p.Gln1021fs)
|
rs1554122293
|
|
NM_006772.3(SYNGAP1):c.3061C>T (p.Gln1021Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3073C>T (p.Gln1025Ter)
|
rs1554122296
|
|
NM_006772.3(SYNGAP1):c.3078del (p.Asp1026fs)
|
rs2151189924
|
|
NM_006772.3(SYNGAP1):c.3124C>T (p.Gln1042Ter)
|
rs1554122305
|
|
NM_006772.3(SYNGAP1):c.3133del (p.Ala1045fs)
|
rs2151190116
|
|
NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs)
|
rs2151190135
|
|
NM_006772.3(SYNGAP1):c.3141_3142del (p.Gly1048fs)
|
rs2151190159
|
|
NM_006772.3(SYNGAP1):c.3167_3188dup (p.Pro1065fs)
|
rs1581996778
|
|
NM_006772.3(SYNGAP1):c.3179del (p.Gly1060fs)
|
rs1581996813
|
|
NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs)
|
|
|
NM_006772.3(SYNGAP1):c.3190C>T (p.Gln1064Ter)
|
rs1135401805
|
|
NM_006772.3(SYNGAP1):c.3213del (p.Lys1072fs)
|
|
|
NM_006772.3(SYNGAP1):c.3227del (p.Gln1075_Leu1076insTer)
|
rs1064796033
|
|
NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs)
|
rs1554122341
|
|
NM_006772.3(SYNGAP1):c.3233_3255del (p.Val1078fs)
|
rs2151190588
|
|
NM_006772.3(SYNGAP1):c.3244C>T (p.Gln1082Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3246delinsAA (p.Pro1084fs)
|
rs1554122348
|
|
NM_006772.3(SYNGAP1):c.3265_3274dup (p.Leu1092fs)
|
|
|
NM_006772.3(SYNGAP1):c.3269dup (p.Asn1090fs)
|
rs2151190684
|
|
NM_006772.3(SYNGAP1):c.3277C>T (p.Gln1093Ter)
|
rs1554122363
|
|
NM_006772.3(SYNGAP1):c.3303del (p.Ala1102fs)
|
rs2151190809
|
|
NM_006772.3(SYNGAP1):c.3319C>T (p.Gln1107Ter)
|
rs1554122368
|
|
NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs)
|
rs1581997098
|
|
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)
|
rs1131691979
|
|
NM_006772.3(SYNGAP1):c.3358_3359del (p.Gly1120fs)
|
|
|
NM_006772.3(SYNGAP1):c.3377del (p.Gly1126fs)
|
rs1581997228
|
|
NM_006772.3(SYNGAP1):c.3384dup (p.Leu1129fs)
|
|
|
NM_006772.3(SYNGAP1):c.3404_3407del (p.Lys1135fs)
|
|
|
NM_006772.3(SYNGAP1):c.3408+1G>A
|
rs1554122402
|
|
NM_006772.3(SYNGAP1):c.3408+1G>C
|
rs1554122402
|
|
NM_006772.3(SYNGAP1):c.3408+1G>T
|
rs1554122402
|
|
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter)
|
rs1554122455
|
|
NM_006772.3(SYNGAP1):c.3415_3416del (p.Gln1139fs)
|
rs1554122457
|
|
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs)
|
rs1554122458
|
|
NM_006772.3(SYNGAP1):c.3432_3433insCCAC (p.Asn1145fs)
|
|
|
NM_006772.3(SYNGAP1):c.3452_3453del (p.Ala1150_Ser1151insTer)
|
rs2151192910
|
|
NM_006772.3(SYNGAP1):c.3471G>A (p.Trp1157Ter)
|
rs1064796403
|
|
NM_006772.3(SYNGAP1):c.3505G>T (p.Glu1169Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3516dup (p.Ile1173fs)
|
rs2151193070
|
|
NM_006772.3(SYNGAP1):c.3535A>T (p.Lys1179Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3553A>T (p.Lys1185Ter)
|
rs1554122483
|
|
NM_006772.3(SYNGAP1):c.355dup (p.Glu119fs)
|
rs1554120489
|
|
NM_006772.3(SYNGAP1):c.3583-6G>A
|
rs869312674
|
|
NM_006772.3(SYNGAP1):c.3583-9G>A
|
rs1554122689
|
|
NM_006772.3(SYNGAP1):c.3587dup (p.Glu1197fs)
|
rs1761207751
|
|
NM_006772.3(SYNGAP1):c.3592del (p.Tyr1198fs)
|
rs797046030
|
|
NM_006772.3(SYNGAP1):c.3599dup (p.Glu1201fs)
|
rs1582001015
|
|
NM_006772.3(SYNGAP1):c.359_381del (p.Gly120fs)
|
rs1777174302
|
|
NM_006772.3(SYNGAP1):c.3606del (p.His1203fs)
|
rs1761208393
|
|
NM_006772.3(SYNGAP1):c.3632del (p.Met1211fs)
|
rs2151199347
|
|
NM_006772.3(SYNGAP1):c.3642del (p.Lys1215fs)
|
rs1554122710
|
|
NM_006772.3(SYNGAP1):c.3665_3669dup (p.Leu1224fs)
|
rs1761210688
|
|
NM_006772.3(SYNGAP1):c.366del (p.Ala123fs)
|
rs2151151998
|
|
NM_006772.3(SYNGAP1):c.3681del (p.Glu1228fs)
|
|
|
NM_006772.3(SYNGAP1):c.3685C>T (p.Gln1229Ter)
|
rs2151199529
|
|
NM_006772.3(SYNGAP1):c.3706C>T (p.Gln1236Ter)
|
rs1554122729
|
|
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)
|
rs869312955
|
|
NM_006772.3(SYNGAP1):c.3732_3735del (p.Ser1244fs)
|
rs1761212075
|
|
NM_006772.3(SYNGAP1):c.3754C>T (p.Gln1252Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3788_3794del (p.Ile1263fs)
|
rs869312677
|
|
NM_006772.3(SYNGAP1):c.3795-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.3811G>T (p.Glu1271Ter)
|
rs1554122888
|
|
NM_006772.3(SYNGAP1):c.3834dup (p.Ala1279fs)
|
rs2151202533
|
|
NM_006772.3(SYNGAP1):c.384dup (p.Ser129fs)
|
rs1554120498
|
|
NM_006772.3(SYNGAP1):c.387+1G>A
|
rs1777175608
|
|
NM_006772.3(SYNGAP1):c.388-1G>C
|
|
|
NM_006772.3(SYNGAP1):c.388-2A>C
|
|
|
NM_006772.3(SYNGAP1):c.388-2A>G
|
rs797045012
|
|
NM_006772.3(SYNGAP1):c.388-2del
|
|
|
NM_006772.3(SYNGAP1):c.388C>T (p.Gln130Ter)
|
rs1175416158
|
|
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
|
rs1131692154
|
|
NM_006772.3(SYNGAP1):c.404_410del (p.Arg135fs)
|
|
|
NM_006772.3(SYNGAP1):c.410del (p.Leu137fs)
|
rs1581980317
|
|
NM_006772.3(SYNGAP1):c.412A>T (p.Lys138Ter)
|
rs121918315
|
|
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter)
|
rs397514741
|
|
NM_006772.3(SYNGAP1):c.434_447dup (p.Leu150fs)
|
|
|
NM_006772.3(SYNGAP1):c.435_447dup (p.Leu150fs)
|
rs1777196665
|
|
NM_006772.3(SYNGAP1):c.438_448dup (p.Leu150fs)
|
|
|
NM_006772.3(SYNGAP1):c.43del (p.Ala15fs)
|
rs1554304258
|
|
NM_006772.3(SYNGAP1):c.472C>T (p.Gln158Ter)
|
rs1085307871
|
|
NM_006772.3(SYNGAP1):c.478del (p.Leu160fs)
|
|
|
NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys)
|
rs1554120589
|
|
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)
|
rs1057518352
|
|
NM_006772.3(SYNGAP1):c.509+1G>A
|
rs1561781989
|
|
NM_006772.3(SYNGAP1):c.509+1G>T
|
rs1561781989
|
|
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)
|
rs1057519546
|
|
NM_006772.3(SYNGAP1):c.510-1G>A
|
rs2151161019
|
|
NM_006772.3(SYNGAP1):c.510-2A>G
|
rs1554120894
|
|
NM_006772.3(SYNGAP1):c.531_532del (p.Phe177fs)
|
|
|
NM_006772.3(SYNGAP1):c.539dup (p.His181fs)
|
rs1561783309
|
|
NM_006772.3(SYNGAP1):c.604del (p.Glu202fs)
|
|
|
NM_006772.3(SYNGAP1):c.628_631dup (p.Ser211fs)
|
rs1554120939
|
|
NM_006772.3(SYNGAP1):c.646C>T (p.Gln216Ter)
|
rs1554120941
|
|
NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs)
|
rs1777299176
|
|
NM_006772.3(SYNGAP1):c.67+1G>T
|
|
|
NM_006772.3(SYNGAP1):c.698_699dup (p.Arg234fs)
|
rs1554120966
|
|
NM_006772.3(SYNGAP1):c.712G>T (p.Glu238Ter)
|
|
|
NM_006772.3(SYNGAP1):c.718_719del (p.Asp240fs)
|
rs1777306901
|
|
NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter)
|
rs1554120978
|
|
NM_006772.3(SYNGAP1):c.745del (p.Ala249fs)
|
rs1777307832
|
|
NM_006772.3(SYNGAP1):c.761dup (p.Asp255fs)
|
|
|
NM_006772.3(SYNGAP1):c.762+1G>T
|
rs797046031
|
|
NM_006772.3(SYNGAP1):c.763-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.781_784del (p.Asp261fs)
|
rs1581986872
|
|
NM_006772.3(SYNGAP1):c.790_798del (p.Leu264_Leu266del)
|
rs1554121164
|
|
NM_006772.3(SYNGAP1):c.812C>A (p.Ala271Asp)
|
|
|
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs)
|
rs2151168473
|
|
NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg)
|
rs1581987022
|
|
NM_006772.3(SYNGAP1):c.857_864dup (p.Met289fs)
|
rs1554121189
|
|
NM_006772.3(SYNGAP1):c.85_86del (p.Met29fs)
|
|
|
NM_006772.3(SYNGAP1):c.878del (p.Arg293fs)
|
rs1561784560
|
|
NM_006772.3(SYNGAP1):c.883_884del (p.Thr295fs)
|
rs2151168687
|
|
NM_006772.3(SYNGAP1):c.896del (p.Arg299fs)
|
rs863224930
|
|
NM_006772.3(SYNGAP1):c.91C>T (p.Arg31Ter)
|
rs1554304655
|
|
NM_006772.3(SYNGAP1):c.922T>C (p.Trp308Arg)
|
rs1057524025
|
|
NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys)
|
rs1554121202
|
|
NM_006772.3(SYNGAP1):c.926del (p.Gly309fs)
|
rs1760890595
|
|
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)
|
rs1554121206
|
|
NM_006772.3(SYNGAP1):c.929A>G (p.Glu310Gly)
|
|
|
NM_006772.3(SYNGAP1):c.936dup (p.Glu313fs)
|
rs2151168879
|
|
NM_006772.3(SYNGAP1):c.937G>T (p.Glu313Ter)
|
rs1554121207
|
|
NM_006772.3(SYNGAP1):c.949del (p.Leu317fs)
|
rs1554121211
|
|
NM_006772.3(SYNGAP1):c.980T>C (p.Leu327Pro)
|
rs1581987268
|
|
NM_006772.3(SYNGAP1):c.99del (p.Gln33fs)
|
rs2151129654
|
|
SYNGAP1, TRP267TER
|
|
|