NM_006772.3(SYNGAP1):c.762+32C>T
|
rs453590
|
0.39879
|
NM_006772.3(SYNGAP1):c.296-160C>T
|
rs9394145
|
0.23200
|
NM_006772.3(SYNGAP1):c.2295-168C>T
|
rs78441724
|
0.09546
|
NM_006772.3(SYNGAP1):c.2295-91T>C
|
rs55699469
|
0.09524
|
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=)
|
rs75579703
|
0.09434
|
NM_006772.3(SYNGAP1):c.2294+201T>G
|
rs73741841
|
0.07869
|
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=)
|
rs7759963
|
0.07295
|
NM_006772.3(SYNGAP1):c.68-76C>T
|
rs76557362
|
0.06465
|
NM_006772.3(SYNGAP1):c.763-265G>A
|
rs60719642
|
0.05886
|
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=)
|
rs61421477
|
0.05793
|
NM_006772.3(SYNGAP1):c.68-79T>G
|
rs1755042
|
0.04634
|
NM_006772.3(SYNGAP1):c.388-173C>A
|
rs58922452
|
0.03330
|
NM_006772.3(SYNGAP1):c.3409-24C>T
|
rs9969005
|
0.02980
|
NM_006772.3(SYNGAP1):c.1531+52C>T
|
rs45520731
|
0.02973
|
NM_006772.3(SYNGAP1):c.3408+180A>T
|
rs41270541
|
0.01830
|
NM_006772.3(SYNGAP1):c.67+186G>A
|
rs78525454
|
0.01804
|
NM_006772.3(SYNGAP1):c.2116-92A>G
|
rs113487504
|
0.01309
|
NM_006772.3(SYNGAP1):c.190-148A>G
|
rs114840747
|
0.01200
|
NC_000006.12:g.33419822G>C
|
rs9688415
|
0.01199
|
NM_006772.3(SYNGAP1):c.3885+157C>G
|
rs116172817
|
0.01196
|
NM_006772.3(SYNGAP1):c.387+32G>A
|
rs114505996
|
0.01173
|
NM_006772.3(SYNGAP1):c.68-277C>G
|
rs116373967
|
0.01172
|
NM_006772.3(SYNGAP1):c.387+67G>A
|
rs116550709
|
0.01169
|
NM_006772.3(SYNGAP1):c.2295-25C>T
|
rs115441992
|
0.00948
|
NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr)
|
rs191549504
|
0.00927
|
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=)
|
rs142359891
|
0.00815
|
NM_006772.3(SYNGAP1):c.1677-129_1677-128del
|
rs567989593
|
0.00699
|
NM_006772.3(SYNGAP1):c.2295-209G>T
|
rs115432767
|
0.00662
|
NM_006772.3(SYNGAP1):c.763-122C>T
|
rs144595467
|
0.00619
|
NM_006772.3(SYNGAP1):c.295+87G>T
|
rs540674955
|
0.00539
|
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=)
|
rs72887798
|
0.00417
|
NC_000006.12:g.33419836C>A
|
rs115074978
|
0.00410
|
NM_006772.3(SYNGAP1):c.510-51G>A
|
rs775494760
|
0.00360
|
NM_006772.3(SYNGAP1):c.2336+27T>C
|
rs745374127
|
0.00254
|
NM_006772.3(SYNGAP1):c.2336+17T>C
|
rs752795914
|
0.00252
|
NM_006772.3(SYNGAP1):c.3273A>G (p.Leu1091=)
|
rs145707539
|
0.00216
|
NM_006772.3(SYNGAP1):c.3582+7T>C
|
rs370618729
|
0.00193
|
NM_006772.3(SYNGAP1):c.189+29G>A
|
rs183570634
|
0.00163
|
NM_006772.3(SYNGAP1):c.664-41C>T
|
rs187391888
|
0.00145
|
NM_006772.3(SYNGAP1):c.1803G>A (p.Ala601=)
|
rs77934848
|
0.00134
|
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly)
|
rs139759084
|
0.00108
|
NM_006772.3(SYNGAP1):c.296-8C>T
|
rs201145910
|
0.00096
|
NM_006772.3(SYNGAP1):c.388-18T>C
|
rs1561781809
|
0.00095
|
NM_006772.3(SYNGAP1):c.190-50G>A
|
rs184952880
|
0.00092
|
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=)
|
rs150153477
|
0.00082
|
NM_006772.3(SYNGAP1):c.3297T>C (p.Tyr1099=)
|
rs149016890
|
0.00082
|
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=)
|
rs145694123
|
0.00071
|
NM_006772.3(SYNGAP1):c.510-50A>G
|
rs572388344
|
0.00064
|
NM_006772.3(SYNGAP1):c.1935T>C (p.Phe645=)
|
rs145406441
|
0.00059
|
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=)
|
rs139841529
|
0.00059
|
NM_006772.3(SYNGAP1):c.762+46C>T
|
rs373333437
|
0.00038
|
NM_006772.3(SYNGAP1):c.1581C>T (p.Asp527=)
|
rs202178663
|
0.00034
|
NM_006772.3(SYNGAP1):c.3408+29G>A
|
rs149566869
|
0.00032
|
NM_006772.3(SYNGAP1):c.102C>T (p.Tyr34=)
|
rs147913000
|
0.00029
|
NM_006772.3(SYNGAP1):c.1913+36T>C
|
rs199669547
|
0.00028
|
NM_006772.3(SYNGAP1):c.1677-9T>C
|
rs754389007
|
0.00027
|
NM_006772.3(SYNGAP1):c.2658G>A (p.Ala886=)
|
rs149467343
|
0.00024
|
NM_006772.3(SYNGAP1):c.2016G>A (p.Thr672=)
|
rs57365292
|
0.00020
|
NM_006772.3(SYNGAP1):c.1446C>A (p.Leu482=)
|
rs370597423
|
0.00016
|
NM_006772.3(SYNGAP1):c.1914-32A>G
|
rs538693715
|
0.00016
|
NM_006772.3(SYNGAP1):c.2116-30A>C
|
rs185437254
|
0.00016
|
NM_006772.3(SYNGAP1):c.3495G>A (p.Ser1165=)
|
rs200386206
|
0.00016
|
NM_006772.3(SYNGAP1):c.1884G>A (p.Lys628=)
|
rs140022772
|
0.00015
|
NM_006772.3(SYNGAP1):c.1914-48G>A
|
rs139133669
|
0.00014
|
NM_006772.3(SYNGAP1):c.447A>G (p.Lys149=)
|
rs544817923
|
0.00012
|
NM_006772.3(SYNGAP1):c.1455C>T (p.Arg485=)
|
rs201107225
|
0.00011
|
NM_006772.3(SYNGAP1):c.1575G>A (p.Glu525=)
|
rs139050190
|
0.00011
|
NM_006772.3(SYNGAP1):c.2337-10C>G
|
rs371436958
|
0.00011
|
NM_006772.3(SYNGAP1):c.1158G>A (p.Gly386=)
|
rs1443802147
|
0.00010
|
NM_006772.3(SYNGAP1):c.1812G>A (p.Ser604=)
|
rs149727287
|
0.00009
|
NM_006772.3(SYNGAP1):c.2664C>T (p.Ala888=)
|
rs759995681
|
0.00009
|
NM_006772.3(SYNGAP1):c.3583-45G>C
|
rs369119284
|
0.00009
|
NM_006772.3(SYNGAP1):c.2242C>T (p.Leu748=)
|
rs377301201
|
0.00008
|
NM_006772.3(SYNGAP1):c.3364G>A (p.Gly1122Ser)
|
rs755386745
|
0.00008
|
NM_006772.3(SYNGAP1):c.228C>T (p.Ser76=)
|
rs147049139
|
0.00007
|
NM_006772.3(SYNGAP1):c.1311C>T (p.Pro437=)
|
rs777952612
|
0.00006
|
NM_006772.3(SYNGAP1):c.1532-5C>G
|
rs928381854
|
0.00006
|
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser)
|
rs775566992
|
0.00006
|
NM_006772.3(SYNGAP1):c.2125C>T (p.Leu709=)
|
rs543705054
|
0.00006
|
NM_006772.3(SYNGAP1):c.2742C>T (p.Asp914=)
|
rs534933618
|
0.00006
|
NM_006772.3(SYNGAP1):c.3045T>C (p.Thr1015=)
|
rs753746117
|
0.00006
|
NM_006772.3(SYNGAP1):c.2388A>G (p.Pro796=)
|
rs756541754
|
0.00005
|
NM_006772.3(SYNGAP1):c.2845G>A (p.Gly949Ser)
|
rs141341400
|
0.00005
|
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe)
|
rs753575634
|
0.00005
|
NM_006772.3(SYNGAP1):c.295+39G>T
|
rs752202770
|
0.00005
|
NM_006772.3(SYNGAP1):c.*4A>G
|
rs781535944
|
0.00004
|
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=)
|
rs555363112
|
0.00004
|
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala)
|
rs749376396
|
0.00004
|
NM_006772.3(SYNGAP1):c.773G>A (p.Arg258His)
|
rs538281267
|
0.00004
|
NM_006772.3(SYNGAP1):c.1771G>A (p.Ala591Thr)
|
rs946029100
|
0.00003
|
NM_006772.3(SYNGAP1):c.1888A>G (p.Ile630Val)
|
rs192497085
|
0.00003
|
NM_006772.3(SYNGAP1):c.2362T>A (p.Ser788Thr)
|
rs201062426
|
0.00003
|
NM_006772.3(SYNGAP1):c.2369C>A (p.Thr790Asn)
|
rs552867155
|
0.00003
|
NM_006772.3(SYNGAP1):c.2520T>C (p.Ser840=)
|
rs778341826
|
0.00003
|
NM_006772.3(SYNGAP1):c.33G>T (p.Gly11=)
|
rs749949430
|
0.00003
|
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp)
|
rs139853969
|
0.00003
|
NM_006772.3(SYNGAP1):c.4002C>T (p.Asn1334=)
|
rs201509029
|
0.00003
|
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp)
|
rs748333558
|
0.00002
|
NM_006772.3(SYNGAP1):c.1532-28C>A
|
rs367839297
|
0.00002
|
NM_006772.3(SYNGAP1):c.1677-8C>T
|
rs755438249
|
0.00002
|
NM_006772.3(SYNGAP1):c.2361C>T (p.Pro787=)
|
rs775679543
|
0.00002
|
NM_006772.3(SYNGAP1):c.2418C>T (p.Phe806=)
|
rs764203322
|
0.00002
|
NM_006772.3(SYNGAP1):c.3055C>T (p.Arg1019Cys)
|
rs777763120
|
0.00002
|
NM_006772.3(SYNGAP1):c.3056G>A (p.Arg1019His)
|
rs747078316
|
0.00002
|
NM_006772.3(SYNGAP1):c.3181G>T (p.Gly1061Cys)
|
rs753645263
|
0.00002
|
NM_006772.3(SYNGAP1):c.3380G>C (p.Gly1127Ala)
|
rs777482147
|
0.00002
|
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln)
|
rs747376669
|
0.00002
|
NM_006772.3(SYNGAP1):c.1025A>G (p.Tyr342Cys)
|
rs777562660
|
0.00001
|
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu)
|
rs764259746
|
0.00001
|
NM_006772.3(SYNGAP1):c.1146A>G (p.Gly382=)
|
rs1385235040
|
0.00001
|
NM_006772.3(SYNGAP1):c.1213C>T (p.Arg405Cys)
|
rs751466510
|
0.00001
|
NM_006772.3(SYNGAP1):c.121C>T (p.Arg41Cys)
|
rs762142487
|
0.00001
|
NM_006772.3(SYNGAP1):c.1224A>G (p.Thr408=)
|
rs780138803
|
0.00001
|
NM_006772.3(SYNGAP1):c.1251T>C (p.Tyr417=)
|
rs755250466
|
0.00001
|
NM_006772.3(SYNGAP1):c.1350A>G (p.Ala450=)
|
rs751331097
|
0.00001
|
NM_006772.3(SYNGAP1):c.1730C>G (p.Ala577Gly)
|
rs1761009822
|
0.00001
|
NM_006772.3(SYNGAP1):c.1962G>A (p.Glu654=)
|
rs373857862
|
0.00001
|
NM_006772.3(SYNGAP1):c.2157C>T (p.Asn719=)
|
rs559061651
|
0.00001
|
NM_006772.3(SYNGAP1):c.2221C>T (p.Pro741Ser)
|
rs760257950
|
0.00001
|
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln)
|
rs761691865
|
0.00001
|
NM_006772.3(SYNGAP1):c.2568C>T (p.Asn856=)
|
rs137894267
|
0.00001
|
NM_006772.3(SYNGAP1):c.2703G>A (p.Ala901=)
|
rs769826724
|
0.00001
|
NM_006772.3(SYNGAP1):c.2811T>C (p.Asp937=)
|
rs1449497761
|
0.00001
|
NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu)
|
rs752316341
|
0.00001
|
NM_006772.3(SYNGAP1):c.2943C>T (p.Gly981=)
|
rs202074092
|
0.00001
|
NM_006772.3(SYNGAP1):c.29G>C (p.Arg10Pro)
|
rs866982002
|
0.00001
|
NM_006772.3(SYNGAP1):c.3022G>A (p.Asp1008Asn)
|
rs1156508338
|
0.00001
|
NM_006772.3(SYNGAP1):c.303C>A (p.His101Gln)
|
rs1434337349
|
0.00001
|
NM_006772.3(SYNGAP1):c.3171C>T (p.Ser1057=)
|
rs761405990
|
0.00001
|
NM_006772.3(SYNGAP1):c.3198T>G (p.Pro1066=)
|
rs781201249
|
0.00001
|
NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His)
|
rs764952741
|
0.00001
|
NM_006772.3(SYNGAP1):c.3369C>T (p.Gly1123=)
|
rs779377737
|
0.00001
|
NM_006772.3(SYNGAP1):c.3374G>C (p.Gly1125Ala)
|
rs1170784913
|
0.00001
|
NM_006772.3(SYNGAP1):c.3624G>C (p.Arg1208=)
|
rs1476852507
|
0.00001
|
NM_006772.3(SYNGAP1):c.3780G>A (p.Lys1260=)
|
rs993798547
|
0.00001
|
NM_006772.3(SYNGAP1):c.388-4C>G
|
rs1358028598
|
0.00001
|
NM_006772.3(SYNGAP1):c.3922C>T (p.Arg1308Cys)
|
rs918621494
|
0.00001
|
NM_006772.3(SYNGAP1):c.895C>T (p.Arg299Cys)
|
rs1760889495
|
0.00001
|
NM_006772.3(SYNGAP1):c.-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.1006AAG[1] (p.Lys337del)
|
rs2151169092
|
|
NM_006772.3(SYNGAP1):c.102C>A (p.Tyr34Ter)
|
rs147913000
|
|
NM_006772.3(SYNGAP1):c.1045C>T (p.Pro349Ser)
|
rs2151169190
|
|
NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter)
|
rs1760897843
|
|
NM_006772.3(SYNGAP1):c.114G>T (p.Pro38=)
|
rs370803544
|
|
NM_006772.3(SYNGAP1):c.1154C>T (p.Ser385Leu)
|
rs766006911
|
|
NM_006772.3(SYNGAP1):c.1161T>G (p.Gly387=)
|
|
|
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs)
|
rs1060503378
|
|
NM_006772.3(SYNGAP1):c.1167del (p.Gly391fs)
|
|
|
NM_006772.3(SYNGAP1):c.1194G>A (p.Pro398=)
|
|
|
NM_006772.3(SYNGAP1):c.1199T>A (p.Val400Glu)
|
rs1581987752
|
|
NM_006772.3(SYNGAP1):c.1214G>C (p.Arg405Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1224_1226del (p.Met409del)
|
rs2151169927
|
|
NM_006772.3(SYNGAP1):c.1243G>T (p.Glu415Ter)
|
rs1554121273
|
|
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.1322T>C (p.Val441Ala)
|
|
|
NM_006772.3(SYNGAP1):c.1329C>T (p.Gly443=)
|
rs2151170280
|
|
NM_006772.3(SYNGAP1):c.1345dup (p.Ser449fs)
|
rs1554121295
|
|
NM_006772.3(SYNGAP1):c.1349C>A (p.Ala450Glu)
|
rs1189124390
|
|
NM_006772.3(SYNGAP1):c.13C>T (p.Arg5Ter)
|
rs2151121492
|
|
NM_006772.3(SYNGAP1):c.1409T>C (p.Met470Thr)
|
rs2151171048
|
|
NM_006772.3(SYNGAP1):c.1423C>T (p.Arg475Trp)
|
rs1760915141
|
|
NM_006772.3(SYNGAP1):c.1428C>G (p.Phe476Leu)
|
rs1349979668
|
|
NM_006772.3(SYNGAP1):c.1465C>T (p.Leu489Phe)
|
rs1554121340
|
|
NM_006772.3(SYNGAP1):c.14_27dup (p.Arg10fs)
|
|
|
NM_006772.3(SYNGAP1):c.1502T>C (p.Ile501Thr)
|
|
|
NM_006772.3(SYNGAP1):c.1505G>A (p.Gly502Asp)
|
rs1554121354
|
|
NM_006772.3(SYNGAP1):c.1529T>G (p.Ile510Ser)
|
rs1554121364
|
|
NM_006772.3(SYNGAP1):c.1531+1del
|
rs2151171434
|
|
NM_006772.3(SYNGAP1):c.1531G>C (p.Gly511Arg)
|
rs1554121365
|
|
NM_006772.3(SYNGAP1):c.1540A>T (p.Ile514Phe)
|
|
|
NM_006772.3(SYNGAP1):c.1579G>T (p.Asp527Tyr)
|
rs1760932359
|
|
NM_006772.3(SYNGAP1):c.1602_1603del (p.Ser535fs)
|
rs2151172527
|
|
NM_006772.3(SYNGAP1):c.1621G>C (p.Ala541Pro)
|
rs1554121439
|
|
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter)
|
rs1554121443
|
|
NM_006772.3(SYNGAP1):c.1639T>C (p.Cys547Arg)
|
rs2151172638
|
|
NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer)
|
rs2151172644
|
|
NM_006772.3(SYNGAP1):c.1673A>G (p.His558Arg)
|
|
|
NM_006772.3(SYNGAP1):c.1676+213dup
|
rs57069921
|
|
NM_006772.3(SYNGAP1):c.1677-40TC[7]
|
rs138475712
|
|
NM_006772.3(SYNGAP1):c.1678G>A (p.Val560Met)
|
|
|
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
|
rs397514670
|
|
NM_006772.3(SYNGAP1):c.1697AGG[1] (p.Glu567del)
|
rs2151180443
|
|
NM_006772.3(SYNGAP1):c.169C>T (p.Leu57Phe)
|
|
|
NM_006772.3(SYNGAP1):c.1706T>C (p.Phe569Ser)
|
|
|
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.1718G>A (p.Arg573Gln)
|
rs1554121685
|
|
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter)
|
rs121918316
|
|
NM_006772.3(SYNGAP1):c.1741C>T (p.Arg581Trp)
|
rs2151180654
|
|
NM_006772.3(SYNGAP1):c.1752C>G (p.Ile584Met)
|
rs1761010544
|
|
NM_006772.3(SYNGAP1):c.1763T>A (p.Leu588His)
|
rs1064795645
|
|
NM_006772.3(SYNGAP1):c.1763T>C (p.Leu588Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1778T>A (p.Leu593His)
|
|
|
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs)
|
rs587780470
|
|
NM_006772.3(SYNGAP1):c.1787G>T (p.Arg596Leu)
|
|
|
NM_006772.3(SYNGAP1):c.1792del (p.Leu598fs)
|
rs1131691635
|
|
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)
|
rs1060503386
|
|
NM_006772.3(SYNGAP1):c.1913+2T>G
|
rs2151181133
|
|
NM_006772.3(SYNGAP1):c.1913+45_1913+59del
|
rs572578854
|
|
NM_006772.3(SYNGAP1):c.1914-32_1914-29del
|
rs561866153
|
|
NM_006772.3(SYNGAP1):c.1914-59TG[11]
|
rs112678454
|
|
NM_006772.3(SYNGAP1):c.1914-59TG[12]
|
rs112678454
|
|
NM_006772.3(SYNGAP1):c.1914-59TG[14]
|
rs112678454
|
|
NM_006772.3(SYNGAP1):c.1914-59TG[15]
|
rs112678454
|
|
NM_006772.3(SYNGAP1):c.1914-60_1914-51del
|
rs146262788
|
|
NM_006772.3(SYNGAP1):c.1947G>C (p.Met649Ile)
|
rs2151182327
|
|
NM_006772.3(SYNGAP1):c.196C>G (p.Pro66Ala)
|
rs1776941906
|
|
NM_006772.3(SYNGAP1):c.1976C>T (p.Ser659Phe)
|
rs2151182395
|
|
NM_006772.3(SYNGAP1):c.198C>G (p.Pro66=)
|
rs73402305
|
|
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=)
|
rs73402305
|
|
NM_006772.3(SYNGAP1):c.2003C>T (p.Ser668Phe)
|
rs2151182460
|
|
NM_006772.3(SYNGAP1):c.2015C>T (p.Thr672Met)
|
rs1405483444
|
|
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)
|
rs1060503383
|
|
NM_006772.3(SYNGAP1):c.2086C>G (p.Leu696Val)
|
|
|
NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter)
|
rs1554121861
|
|
NM_006772.3(SYNGAP1):c.2115G>C (p.Lys705Asn)
|
rs1057518786
|
|
NM_006772.3(SYNGAP1):c.2197C>T (p.Gln733Ter)
|
rs1554121924
|
|
NM_006772.3(SYNGAP1):c.2210A>C (p.Gln737Pro)
|
|
|
NM_006772.3(SYNGAP1):c.2215G>C (p.Glu739Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2224C>T (p.Arg742Trp)
|
|
|
NM_006772.3(SYNGAP1):c.2230C>T (p.Gln744Ter)
|
rs1554121947
|
|
NM_006772.3(SYNGAP1):c.2243T>G (p.Leu748Arg)
|
rs886868218
|
|
NM_006772.3(SYNGAP1):c.2282G>C (p.Arg761Pro)
|
rs1203597280
|
|
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.2336+23G>C
|
rs371700905
|
|
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs)
|
rs1761087122
|
|
NM_006772.3(SYNGAP1):c.2418del (p.Tyr807fs)
|
rs1554122179
|
|
NM_006772.3(SYNGAP1):c.2434C>T (p.Pro812Ser)
|
rs2151188091
|
|
NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs)
|
rs397515320
|
|
NM_006772.3(SYNGAP1):c.2443C>G (p.Arg815Gly)
|
rs1216243827
|
|
NM_006772.3(SYNGAP1):c.2444G>T (p.Arg815Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2454_2456delinsG (p.Ala819fs)
|
rs1581995609
|
|
NM_006772.3(SYNGAP1):c.2494C>T (p.Gln832Ter)
|
rs1554122196
|
|
NM_006772.3(SYNGAP1):c.250C>G (p.Arg84Gly)
|
rs2151134609
|
|
NM_006772.3(SYNGAP1):c.2514C>A (p.Asn838Lys)
|
rs1192656888
|
|
NM_006772.3(SYNGAP1):c.2525C>A (p.Ser842Tyr)
|
rs1561788965
|
|
NM_006772.3(SYNGAP1):c.2525_2528dup (p.Met843fs)
|
rs1761093830
|
|
NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter)
|
rs1554122200
|
|
NM_006772.3(SYNGAP1):c.2627C>T (p.Ser876Leu)
|
|
|
NM_006772.3(SYNGAP1):c.263T>C (p.Val88Ala)
|
|
|
NM_006772.3(SYNGAP1):c.266C>T (p.Pro89Leu)
|
rs1554119830
|
|
NM_006772.3(SYNGAP1):c.2711T>C (p.Met904Thr)
|
rs2151188795
|
|
NM_006772.3(SYNGAP1):c.2724G>C (p.Gln908His)
|
rs1554122236
|
|
NM_006772.3(SYNGAP1):c.2753C>T (p.Ala918Val)
|
rs2151188913
|
|
NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter)
|
rs1554122242
|
|
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter)
|
rs1554122244
|
|
NM_006772.3(SYNGAP1):c.277C>G (p.Arg93Gly)
|
|
|
NM_006772.3(SYNGAP1):c.2852_2857del (p.His951_Gly952del)
|
|
|
NM_006772.3(SYNGAP1):c.2856C>T (p.Gly952=)
|
rs535906467
|
|
NM_006772.3(SYNGAP1):c.2858C>A (p.Pro953Gln)
|
rs2151189198
|
|
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter)
|
rs749188610
|
|
NM_006772.3(SYNGAP1):c.28C>T (p.Arg10Trp)
|
rs1167492483
|
|
NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs)
|
rs1064796547
|
|
NM_006772.3(SYNGAP1):c.291G>T (p.Glu97Asp)
|
rs2151134743
|
|
NM_006772.3(SYNGAP1):c.2928T>G (p.Phe976Leu)
|
rs1561789482
|
|
NM_006772.3(SYNGAP1):c.2945A>G (p.Tyr982Cys)
|
rs2151189482
|
|
NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg)
|
rs145472959
|
|
NM_006772.3(SYNGAP1):c.2974del (p.Val992fs)
|
rs1761108186
|
|
NM_006772.3(SYNGAP1):c.2979dup (p.Lys994fs)
|
rs1554122276
|
|
NM_006772.3(SYNGAP1):c.3036del (p.Ser1013fs)
|
rs1554122289
|
|
NM_006772.3(SYNGAP1):c.3041G>T (p.Gly1014Val)
|
rs1581996568
|
|
NM_006772.3(SYNGAP1):c.3061C>T (p.Gln1021Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3073C>T (p.Gln1025Ter)
|
rs1554122296
|
|
NM_006772.3(SYNGAP1):c.3125A>G (p.Gln1042Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs)
|
rs2151190135
|
|
NM_006772.3(SYNGAP1):c.3154G>A (p.Gly1052Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3168C>A (p.Gly1056=)
|
|
|
NM_006772.3(SYNGAP1):c.3168_3179del (p.1053_1056SGGG[1])
|
rs774101585
|
|
NM_006772.3(SYNGAP1):c.3174T>G (p.Gly1058=)
|
rs1485118493
|
|
NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs)
|
|
|
NM_006772.3(SYNGAP1):c.3180T>G (p.Gly1060=)
|
|
|
NM_006772.3(SYNGAP1):c.3183C>G (p.Gly1061=)
|
rs759449351
|
|
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.3246delinsAA (p.Pro1084fs)
|
rs1554122348
|
|
NM_006772.3(SYNGAP1):c.3251C>A (p.Pro1084His)
|
|
|
NM_006772.3(SYNGAP1):c.3277C>T (p.Gln1093Ter)
|
rs1554122363
|
|
NM_006772.3(SYNGAP1):c.3287A>C (p.Glu1096Ala)
|
|
|
NM_006772.3(SYNGAP1):c.3314G>A (p.Arg1105Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs)
|
rs1581997098
|
|
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)
|
rs1131691979
|
|
NM_006772.3(SYNGAP1):c.3344_3352del (p.Ile1115_Gly1117del)
|
|
|
NM_006772.3(SYNGAP1):c.3345_3353dup (p.1118SGG[3])
|
rs1761121084
|
|
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[1] (p.1118SGG[1])
|
rs761763671
|
|
NM_006772.3(SYNGAP1):c.3354C>A (p.Ser1118Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3361A>G (p.Ser1121Gly)
|
|
|
NM_006772.3(SYNGAP1):c.3377G>T (p.Gly1126Val)
|
rs2151191157
|
|
NM_006772.3(SYNGAP1):c.33G>A (p.Gly11=)
|
rs749949430
|
|
NM_006772.3(SYNGAP1):c.3404A>C (p.Lys1135Thr)
|
rs2151191254
|
|
NM_006772.3(SYNGAP1):c.3405G>C (p.Lys1135Asn)
|
rs1561790136
|
|
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.3471G>A (p.Trp1157Ter)
|
rs1064796403
|
|
NM_006772.3(SYNGAP1):c.3487C>G (p.His1163Asp)
|
rs2151192993
|
|
NM_006772.3(SYNGAP1):c.3511_3512delinsTG (p.Ala1171Cys)
|
|
|
NM_006772.3(SYNGAP1):c.355dup (p.Glu119fs)
|
rs1554120489
|
|
NM_006772.3(SYNGAP1):c.3582+5G>A
|
rs1323082596
|
|
NM_006772.3(SYNGAP1):c.3583-17G>A
|
rs768465867
|
|
NM_006772.3(SYNGAP1):c.3583-6G>A
|
rs869312674
|
|
NM_006772.3(SYNGAP1):c.3583-9G>A
|
rs1554122689
|
|
NM_006772.3(SYNGAP1):c.3594C>G (p.Tyr1198Ter)
|
rs1007979214
|
|
NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs)
|
rs2151199493
|
|
NM_006772.3(SYNGAP1):c.3686A>C (p.Gln1229Pro)
|
rs2151199539
|
|
NM_006772.3(SYNGAP1):c.3705G>A (p.Met1235Ile)
|
|
|
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)
|
rs869312955
|
|
NM_006772.3(SYNGAP1):c.3788T>C (p.Ile1263Thr)
|
rs1451330589
|
|
NM_006772.3(SYNGAP1):c.3794+63T>C
|
rs3119027
|
|
NM_006772.3(SYNGAP1):c.3794+74G>T
|
rs3119019
|
|
NM_006772.3(SYNGAP1):c.3795-7C>G
|
rs1761241320
|
|
NM_006772.3(SYNGAP1):c.3824G>T (p.Arg1275Leu)
|
rs1057520146
|
|
NM_006772.3(SYNGAP1):c.3860C>T (p.Pro1287Leu)
|
rs1374327029
|
|
NM_006772.3(SYNGAP1):c.387+44C>A
|
rs200171707
|
|
NM_006772.3(SYNGAP1):c.388-1G>C
|
|
|
NM_006772.3(SYNGAP1):c.388-27C>A
|
rs1561781788
|
|
NM_006772.3(SYNGAP1):c.388-2A>C
|
|
|
NM_006772.3(SYNGAP1):c.388-30dup
|
rs1255453970
|
|
NM_006772.3(SYNGAP1):c.388-3dup
|
rs771107621
|
|
NM_006772.3(SYNGAP1):c.391G>C (p.Gly131Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3936C>T (p.Ala1312=)
|
rs774453156
|
|
NM_006772.3(SYNGAP1):c.3963A>C (p.Pro1321=)
|
rs764754365
|
|
NM_006772.3(SYNGAP1):c.3963_3964del (p.Ala1322fs)
|
|
|
NM_006772.3(SYNGAP1):c.3968_3969insCCCCC (p.Pro1325fs)
|
|
|
NM_006772.3(SYNGAP1):c.3977C>G (p.Pro1326Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3983G>C (p.Arg1328Pro)
|
rs767447413
|
|
NM_006772.3(SYNGAP1):c.3G>A (p.Met1Ile)
|
rs1292609217
|
|
NM_006772.3(SYNGAP1):c.4005C>T (p.Gly1335=)
|
rs1561794001
|
|
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
|
rs1131692154
|
|
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter)
|
rs397514741
|
|
NM_006772.3(SYNGAP1):c.44C>T (p.Ala15Val)
|
|
|
NM_006772.3(SYNGAP1):c.451G>C (p.Asp151His)
|
|
|
NM_006772.3(SYNGAP1):c.472C>T (p.Gln158Ter)
|
rs1085307871
|
|
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.508C>T (p.Arg170Trp)
|
rs1777198713
|
|
NM_006772.3(SYNGAP1):c.509+1G>A
|
rs1561781989
|
|
NM_006772.3(SYNGAP1):c.509+5A>C
|
rs780314191
|
|
NM_006772.3(SYNGAP1):c.510-199dup
|
rs373773732
|
|
NM_006772.3(SYNGAP1):c.510-205_510-199dup
|
rs373773732
|
|
NM_006772.3(SYNGAP1):c.510-206_510-199dup
|
rs373773732
|
|
NM_006772.3(SYNGAP1):c.510-45T>G
|
rs750491221
|
|
NM_006772.3(SYNGAP1):c.510-49del
|
rs371293417
|
|
NM_006772.3(SYNGAP1):c.510-53dup
|
rs28381596
|
|
NM_006772.3(SYNGAP1):c.510-54_510-53dup
|
rs28381596
|
|
NM_006772.3(SYNGAP1):c.510-55_510-53dup
|
rs28381596
|
|
NM_006772.3(SYNGAP1):c.535del (p.Glu179fs)
|
rs786205649
|
|
NM_006772.3(SYNGAP1):c.59C>T (p.Pro20Leu)
|
rs1562867414
|
|
NM_006772.3(SYNGAP1):c.611C>G (p.Ser204Cys)
|
rs2151161251
|
|
NM_006772.3(SYNGAP1):c.646C>T (p.Gln216Ter)
|
rs1554120941
|
|
NM_006772.3(SYNGAP1):c.663+1G>A
|
rs1064797322
|
|
NM_006772.3(SYNGAP1):c.68-1G>A
|
rs1562869207
|
|
NM_006772.3(SYNGAP1):c.707C>T (p.Ala236Val)
|
rs1166557922
|
|
NM_006772.3(SYNGAP1):c.708G>A (p.Ala236=)
|
rs745547755
|
|
NM_006772.3(SYNGAP1):c.718_719del (p.Asp240fs)
|
rs1777306901
|
|
NM_006772.3(SYNGAP1):c.763-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.790_798del (p.Leu264_Leu266del)
|
rs1554121164
|
|
NM_006772.3(SYNGAP1):c.820C>T (p.Leu274=)
|
rs1325101897
|
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NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs)
|
rs2151168473
|
|
NM_006772.3(SYNGAP1):c.835C>T (p.Arg279Trp)
|
rs2151168530
|
|
NM_006772.3(SYNGAP1):c.844T>A (p.Cys282Ser)
|
|
|
NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg)
|
rs1581987022
|
|
NM_006772.3(SYNGAP1):c.862G>A (p.Asp288Asn)
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|
|
NM_006772.3(SYNGAP1):c.877C>T (p.Arg293Cys)
|
|
|
NM_006772.3(SYNGAP1):c.899C>T (p.Ser300Phe)
|
rs2151168751
|
|
NM_006772.3(SYNGAP1):c.901G>A (p.Ala301Thr)
|
rs1581987146
|
|
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.949del (p.Leu317fs)
|
rs1554121211
|
|
NM_006772.3(SYNGAP1):c.953C>T (p.Pro318Leu)
|
rs780238395
|
|
NM_006772.3(SYNGAP1):c.971G>A (p.Arg324Gln)
|
|
|