NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=)
|
rs411136
|
0.40227
|
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.1136C>T (p.Ser379Leu)
|
rs371883908
|
0.00027
|
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.3963A>T (p.Pro1321=)
|
rs764754365
|
0.00012
|
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.2336+19C>T
|
rs374383698
|
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.2583G>A (p.Ser861=)
|
rs375587730
|
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.2394G>A (p.Pro798=)
|
rs138404495
|
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.3583-7C>T
|
rs748161838
|
0.00006
|
NM_006772.3(SYNGAP1):c.4021G>A (p.Ala1341Thr)
|
rs771224281
|
0.00006
|
NM_006772.3(SYNGAP1):c.2388A>G (p.Pro796=)
|
rs756541754
|
0.00005
|
NM_006772.3(SYNGAP1):c.2436C>T (p.Pro812=)
|
rs774728632
|
0.00005
|
NM_006772.3(SYNGAP1):c.2840G>C (p.Gly947Ala)
|
rs553102986
|
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.3564T>C (p.Asp1188=)
|
rs775322599
|
0.00005
|
NM_006772.3(SYNGAP1):c.3603G>A (p.Glu1201=)
|
rs759691617
|
0.00005
|
NM_006772.3(SYNGAP1):c.*4A>G
|
rs781535944
|
0.00004
|
NM_006772.3(SYNGAP1):c.1137G>A (p.Ser379=)
|
rs1471355033
|
0.00004
|
NM_006772.3(SYNGAP1):c.1198G>C (p.Val400Leu)
|
rs201020155
|
0.00004
|
NM_006772.3(SYNGAP1):c.1305G>A (p.Leu435=)
|
rs776326092
|
0.00004
|
NM_006772.3(SYNGAP1):c.1604G>C (p.Ser535Thr)
|
rs750770222
|
0.00004
|
NM_006772.3(SYNGAP1):c.1653G>C (p.Leu551=)
|
rs768223757
|
0.00004
|
NM_006772.3(SYNGAP1):c.1677-15G>A
|
rs766593480
|
0.00004
|
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His)
|
rs758932190
|
0.00004
|
NM_006772.3(SYNGAP1):c.2111G>A (p.Ser704Asn)
|
rs775884756
|
0.00004
|
NM_006772.3(SYNGAP1):c.2409A>G (p.Lys803=)
|
rs770750501
|
0.00004
|
NM_006772.3(SYNGAP1):c.2681G>A (p.Gly894Glu)
|
rs1761098256
|
0.00004
|
NM_006772.3(SYNGAP1):c.2710A>G (p.Met904Val)
|
rs748165064
|
0.00004
|
NM_006772.3(SYNGAP1):c.3156G>A (p.Gly1052=)
|
rs764849812
|
0.00004
|
NM_006772.3(SYNGAP1):c.3264C>T (p.Ser1088=)
|
rs779570828
|
0.00004
|
NM_006772.3(SYNGAP1):c.3354C>T (p.Ser1118=)
|
rs756351837
|
0.00004
|
NM_006772.3(SYNGAP1):c.3795-10G>A
|
rs1176345733
|
0.00004
|
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=)
|
rs555363112
|
0.00004
|
NM_006772.3(SYNGAP1):c.388-20C>T
|
rs541592785
|
0.00004
|
NM_006772.3(SYNGAP1):c.3886-10T>C
|
rs746981989
|
0.00004
|
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala)
|
rs749376396
|
0.00004
|
NM_006772.3(SYNGAP1):c.3942G>A (p.Pro1314=)
|
rs372190836
|
0.00004
|
NM_006772.3(SYNGAP1):c.501C>T (p.Asp167=)
|
rs138286163
|
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.2295-19del
|
rs769960016
|
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.2381C>T (p.Pro794Leu)
|
rs375837477
|
0.00003
|
NM_006772.3(SYNGAP1):c.2520T>C (p.Ser840=)
|
rs778341826
|
0.00003
|
NM_006772.3(SYNGAP1):c.2628G>A (p.Ser876=)
|
rs773687127
|
0.00003
|
NM_006772.3(SYNGAP1):c.2669G>C (p.Arg890Pro)
|
rs369681579
|
0.00003
|
NM_006772.3(SYNGAP1):c.2695A>G (p.Ile899Val)
|
rs143862418
|
0.00003
|
NM_006772.3(SYNGAP1):c.2699C>T (p.Thr900Met)
|
rs751157497
|
0.00003
|
NM_006772.3(SYNGAP1):c.295+9G>C
|
rs1776945472
|
0.00003
|
NM_006772.3(SYNGAP1):c.3054C>G (p.Thr1018=)
|
rs754909607
|
0.00003
|
NM_006772.3(SYNGAP1):c.3175G>A (p.Gly1059Arg)
|
rs371016945
|
0.00003
|
NM_006772.3(SYNGAP1):c.3355G>A (p.Gly1119Arg)
|
rs927915520
|
0.00003
|
NM_006772.3(SYNGAP1):c.33G>T (p.Gly11=)
|
rs749949430
|
0.00003
|
NM_006772.3(SYNGAP1):c.3849G>A (p.Pro1283=)
|
rs1014733325
|
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.1118G>T (p.Gly373Val)
|
rs774819723
|
0.00002
|
NM_006772.3(SYNGAP1):c.1160G>T (p.Gly387Val)
|
rs539316061
|
0.00002
|
NM_006772.3(SYNGAP1):c.1191C>T (p.Cys397=)
|
rs1554121262
|
0.00002
|
NM_006772.3(SYNGAP1):c.1248A>G (p.Leu416=)
|
rs749336514
|
0.00002
|
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp)
|
rs748333558
|
0.00002
|
NM_006772.3(SYNGAP1):c.1286G>A (p.Arg429Gln)
|
rs772336493
|
0.00002
|
NM_006772.3(SYNGAP1):c.1532-28C>A
|
rs367839297
|
0.00002
|
NM_006772.3(SYNGAP1):c.1572C>T (p.Cys524=)
|
rs763080466
|
0.00002
|
NM_006772.3(SYNGAP1):c.166C>T (p.Leu56=)
|
rs756521441
|
0.00002
|
NM_006772.3(SYNGAP1):c.1677-4C>G
|
rs538524761
|
0.00002
|
NM_006772.3(SYNGAP1):c.1677-8C>T
|
rs755438249
|
0.00002
|
NM_006772.3(SYNGAP1):c.1862G>A (p.Arg621Gln)
|
rs756823385
|
0.00002
|
NM_006772.3(SYNGAP1):c.2095G>A (p.Val699Met)
|
rs902954541
|
0.00002
|
NM_006772.3(SYNGAP1):c.2118A>G (p.Glu706=)
|
rs149131236
|
0.00002
|
NM_006772.3(SYNGAP1):c.2256G>A (p.Ser752=)
|
rs373755298
|
0.00002
|
NM_006772.3(SYNGAP1):c.2316C>T (p.Phe772=)
|
rs182565988
|
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.2591C>T (p.Ala864Val)
|
rs1581995772
|
0.00002
|
NM_006772.3(SYNGAP1):c.2700G>A (p.Thr900=)
|
rs757132718
|
0.00002
|
NM_006772.3(SYNGAP1):c.2704G>A (p.Ala902Thr)
|
rs148703943
|
0.00002
|
NM_006772.3(SYNGAP1):c.2743G>A (p.Gly915Ser)
|
rs773316877
|
0.00002
|
NM_006772.3(SYNGAP1):c.2829C>T (p.Gly943=)
|
rs1185150405
|
0.00002
|
NM_006772.3(SYNGAP1):c.2830G>A (p.Gly944Ser)
|
rs765718674
|
0.00002
|
NM_006772.3(SYNGAP1):c.2888A>G (p.His963Arg)
|
rs777418257
|
0.00002
|
NM_006772.3(SYNGAP1):c.2900G>A (p.Arg967Gln)
|
rs557096495
|
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.3160G>A (p.Gly1054Ser)
|
rs774066129
|
0.00002
|
NM_006772.3(SYNGAP1):c.3172G>A (p.Gly1058Ser)
|
rs767071930
|
0.00002
|
NM_006772.3(SYNGAP1):c.3181G>T (p.Gly1061Cys)
|
rs753645263
|
0.00002
|
NM_006772.3(SYNGAP1):c.3303C>T (p.Pro1101=)
|
rs776355446
|
0.00002
|
NM_006772.3(SYNGAP1):c.3380G>C (p.Gly1127Ala)
|
rs777482147
|
0.00002
|
NM_006772.3(SYNGAP1):c.3397A>G (p.Ile1133Val)
|
rs746524469
|
0.00002
|
NM_006772.3(SYNGAP1):c.3558G>A (p.Ser1186=)
|
rs769414725
|
0.00002
|
NM_006772.3(SYNGAP1):c.372G>A (p.Ala124=)
|
rs748895452
|
0.00002
|
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln)
|
rs747376669
|
0.00002
|
NM_006772.3(SYNGAP1):c.407G>A (p.Arg136Gln)
|
rs759426721
|
0.00002
|
NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=)
|
rs765193793
|
0.00002
|
NM_006772.3(SYNGAP1):c.582G>A (p.Glu194=)
|
rs769637893
|
0.00002
|
NM_006772.3(SYNGAP1):c.786T>C (p.Asn262=)
|
rs755664512
|
0.00002
|
NM_006772.3(SYNGAP1):c.1025A>G (p.Tyr342Cys)
|
rs777562660
|
0.00001
|
NM_006772.3(SYNGAP1):c.1029C>T (p.Val343=)
|
rs1458773044
|
0.00001
|
NM_006772.3(SYNGAP1):c.1066C>T (p.Arg356Cys)
|
rs144778033
|
0.00001
|
NM_006772.3(SYNGAP1):c.1108G>A (p.Gly370Ser)
|
rs1760895701
|
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.1155G>A (p.Ser385=)
|
rs753355335
|
0.00001
|
NM_006772.3(SYNGAP1):c.1213C>T (p.Arg405Cys)
|
rs751466510
|
0.00001
|
NM_006772.3(SYNGAP1):c.1214G>A (p.Arg405His)
|
rs757140336
|
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.1312G>A (p.Ala438Thr)
|
rs765011916
|
0.00001
|
NM_006772.3(SYNGAP1):c.1350A>G (p.Ala450=)
|
rs751331097
|
0.00001
|
NM_006772.3(SYNGAP1):c.140G>A (p.Arg47Gln)
|
rs1034171771
|
0.00001
|
NM_006772.3(SYNGAP1):c.1416G>A (p.Glu472=)
|
rs774181787
|
0.00001
|
NM_006772.3(SYNGAP1):c.1441C>T (p.His481Tyr)
|
rs760611173
|
0.00001
|
NM_006772.3(SYNGAP1):c.1461C>T (p.Asn487=)
|
rs1182407212
|
0.00001
|
NM_006772.3(SYNGAP1):c.1531+8C>T
|
rs368508871
|
0.00001
|
NM_006772.3(SYNGAP1):c.163C>A (p.Gln55Lys)
|
rs752176449
|
0.00001
|
NM_006772.3(SYNGAP1):c.1676+14C>T
|
rs747828691
|
0.00001
|
NM_006772.3(SYNGAP1):c.1677-12C>A
|
rs975458793
|
0.00001
|
NM_006772.3(SYNGAP1):c.1723C>T (p.Arg575Cys)
|
rs758101067
|
0.00001
|
NM_006772.3(SYNGAP1):c.1728C>T (p.Cys576=)
|
rs576589974
|
0.00001
|
NM_006772.3(SYNGAP1):c.1730C>G (p.Ala577Gly)
|
rs1761009822
|
0.00001
|
NM_006772.3(SYNGAP1):c.1738G>A (p.Gly580Ser)
|
rs1761010096
|
0.00001
|
NM_006772.3(SYNGAP1):c.1770C>T (p.Ser590=)
|
rs571865766
|
0.00001
|
NM_006772.3(SYNGAP1):c.1783C>T (p.Leu595=)
|
rs761973471
|
0.00001
|
NM_006772.3(SYNGAP1):c.1811C>T (p.Ser604Leu)
|
rs1554121714
|
0.00001
|
NM_006772.3(SYNGAP1):c.1819C>G (p.Leu607Val)
|
rs765714815
|
0.00001
|
NM_006772.3(SYNGAP1):c.1842C>T (p.Tyr614=)
|
rs1183805417
|
0.00001
|
NM_006772.3(SYNGAP1):c.1878T>C (p.Ile626=)
|
rs1354630489
|
0.00001
|
NM_006772.3(SYNGAP1):c.190-7C>T
|
rs753440517
|
0.00001
|
NM_006772.3(SYNGAP1):c.190-8T>C
|
rs1456594190
|
0.00001
|
NM_006772.3(SYNGAP1):c.1914-18T>G
|
rs777956700
|
0.00001
|
NM_006772.3(SYNGAP1):c.1920C>T (p.Thr640=)
|
rs1189021984
|
0.00001
|
NM_006772.3(SYNGAP1):c.1962G>A (p.Glu654=)
|
rs373857862
|
0.00001
|
NM_006772.3(SYNGAP1):c.1973G>A (p.Gly658Asp)
|
rs1196568491
|
0.00001
|
NM_006772.3(SYNGAP1):c.1977C>T (p.Ser659=)
|
rs1228056538
|
0.00001
|
NM_006772.3(SYNGAP1):c.2017C>T (p.Leu673=)
|
rs1160089875
|
0.00001
|
NM_006772.3(SYNGAP1):c.2022C>A (p.Thr674=)
|
rs751139115
|
0.00001
|
NM_006772.3(SYNGAP1):c.2116-4C>G
|
rs925997309
|
0.00001
|
NM_006772.3(SYNGAP1):c.2157C>T (p.Asn719=)
|
rs559061651
|
0.00001
|
NM_006772.3(SYNGAP1):c.2195G>A (p.Arg732Lys)
|
rs934177451
|
0.00001
|
NM_006772.3(SYNGAP1):c.2214T>C (p.Ser738=)
|
rs1243545018
|
0.00001
|
NM_006772.3(SYNGAP1):c.2218C>T (p.Arg740Trp)
|
rs1761047927
|
0.00001
|
NM_006772.3(SYNGAP1):c.2221C>T (p.Pro741Ser)
|
rs760257950
|
0.00001
|
NM_006772.3(SYNGAP1):c.2225G>A (p.Arg742Gln)
|
rs959800067
|
0.00001
|
NM_006772.3(SYNGAP1):c.2301C>T (p.Ile767=)
|
rs775210377
|
0.00001
|
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln)
|
rs761691865
|
0.00001
|
NM_006772.3(SYNGAP1):c.2352T>C (p.Ala784=)
|
rs1286625722
|
0.00001
|
NM_006772.3(SYNGAP1):c.2353C>T (p.Arg785Cys)
|
rs747929833
|
0.00001
|
NM_006772.3(SYNGAP1):c.2435C>A (p.Pro812His)
|
rs1025055399
|
0.00001
|
NM_006772.3(SYNGAP1):c.244C>T (p.Leu82=)
|
rs1429126574
|
0.00001
|
NM_006772.3(SYNGAP1):c.2460C>T (p.Tyr820=)
|
rs756696815
|
0.00001
|
NM_006772.3(SYNGAP1):c.2466G>A (p.Thr822=)
|
rs145297490
|
0.00001
|
NM_006772.3(SYNGAP1):c.2487G>A (p.Glu829=)
|
rs1313871439
|
0.00001
|
NM_006772.3(SYNGAP1):c.2506A>G (p.Ser836Gly)
|
rs1554122198
|
0.00001
|
NM_006772.3(SYNGAP1):c.2522T>C (p.Val841Ala)
|
rs1761093694
|
0.00001
|
NM_006772.3(SYNGAP1):c.255A>G (p.Thr85=)
|
rs1406860949
|
0.00001
|
NM_006772.3(SYNGAP1):c.2565C>T (p.Leu855=)
|
rs752424744
|
0.00001
|
NM_006772.3(SYNGAP1):c.2568C>T (p.Asn856=)
|
rs137894267
|
0.00001
|
NM_006772.3(SYNGAP1):c.2592G>A (p.Ala864=)
|
rs989713108
|
0.00001
|
NM_006772.3(SYNGAP1):c.2595C>T (p.Ala865=)
|
rs745742397
|
0.00001
|
NM_006772.3(SYNGAP1):c.2596G>T (p.Val866Leu)
|
rs768878991
|
0.00001
|
NM_006772.3(SYNGAP1):c.2668C>T (p.Arg890Cys)
|
rs1761097804
|
0.00001
|
NM_006772.3(SYNGAP1):c.2703G>A (p.Ala901=)
|
rs769826724
|
0.00001
|
NM_006772.3(SYNGAP1):c.2713C>T (p.Arg905Cys)
|
rs992305960
|
0.00001
|
NM_006772.3(SYNGAP1):c.2760A>G (p.Gln920=)
|
rs1466615976
|
0.00001
|
NM_006772.3(SYNGAP1):c.280C>T (p.Pro94Ser)
|
rs773668772
|
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.2844C>T (p.Gly948=)
|
rs753093321
|
0.00001
|
NM_006772.3(SYNGAP1):c.2881C>T (p.His961Tyr)
|
rs756181133
|
0.00001
|
NM_006772.3(SYNGAP1):c.28C>A (p.Arg10=)
|
rs1167492483
|
0.00001
|
NM_006772.3(SYNGAP1):c.2910G>A (p.Glu970=)
|
rs1060504899
|
0.00001
|
NM_006772.3(SYNGAP1):c.2943C>T (p.Gly981=)
|
rs202074092
|
0.00001
|
NM_006772.3(SYNGAP1):c.2967T>C (p.Ser989=)
|
rs1337054733
|
0.00001
|
NM_006772.3(SYNGAP1):c.297A>G (p.Glu99=)
|
rs1038411463
|
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.3038C>G (p.Ser1013Cys)
|
rs755983620
|
0.00001
|
NM_006772.3(SYNGAP1):c.3039T>C (p.Ser1013=)
|
rs766146054
|
0.00001
|
NM_006772.3(SYNGAP1):c.303C>A (p.His101Gln)
|
rs1434337349
|
0.00001
|
NM_006772.3(SYNGAP1):c.3114C>T (p.Thr1038=)
|
rs746033927
|
0.00001
|
NM_006772.3(SYNGAP1):c.3171C>T (p.Ser1057=)
|
rs761405990
|
0.00001
|
NM_006772.3(SYNGAP1):c.3176G>C (p.Gly1059Ala)
|
rs567475546
|
0.00001
|
NM_006772.3(SYNGAP1):c.3179G>T (p.Gly1060Val)
|
rs1422793438
|
0.00001
|
NM_006772.3(SYNGAP1):c.3183C>T (p.Gly1061=)
|
rs759449351
|
0.00001
|
NM_006772.3(SYNGAP1):c.3195G>A (p.Pro1065=)
|
rs752562193
|
0.00001
|
NM_006772.3(SYNGAP1):c.3197C>T (p.Pro1066Leu)
|
rs757344392
|
0.00001
|
NM_006772.3(SYNGAP1):c.3198T>G (p.Pro1066=)
|
rs781201249
|
0.00001
|
NM_006772.3(SYNGAP1):c.323A>G (p.Lys108Arg)
|
rs1045348270
|
0.00001
|
NM_006772.3(SYNGAP1):c.3282C>T (p.Ser1094=)
|
rs771736819
|
0.00001
|
NM_006772.3(SYNGAP1):c.3304G>A (p.Ala1102Thr)
|
rs759377340
|
0.00001
|
NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His)
|
rs764952741
|
0.00001
|
NM_006772.3(SYNGAP1):c.335G>C (p.Gly112Ala)
|
rs781711559
|
0.00001
|
NM_006772.3(SYNGAP1):c.3368G>A (p.Gly1123Asp)
|
rs935415064
|
0.00001
|
NM_006772.3(SYNGAP1):c.3369C>T (p.Gly1123=)
|
rs779377737
|
0.00001
|
NM_006772.3(SYNGAP1):c.3370G>A (p.Gly1124Arg)
|
rs748702892
|
0.00001
|
NM_006772.3(SYNGAP1):c.3374G>C (p.Gly1125Ala)
|
rs1170784913
|
0.00001
|
NM_006772.3(SYNGAP1):c.3457C>T (p.Arg1153Trp)
|
rs1554122465
|
0.00001
|
NM_006772.3(SYNGAP1):c.3572G>A (p.Arg1191Gln)
|
rs574603811
|
0.00001
|
NM_006772.3(SYNGAP1):c.3582+4C>T
|
rs376752755
|
0.00001
|
NM_006772.3(SYNGAP1):c.3582+6A>C
|
rs768094841
|
0.00001
|
NM_006772.3(SYNGAP1):c.3583-18C>T
|
rs1343189146
|
0.00001
|
NM_006772.3(SYNGAP1):c.3583-3C>T
|
rs771888857
|
0.00001
|
NM_006772.3(SYNGAP1):c.3583-4G>A
|
rs1761207395
|
0.00001
|
NM_006772.3(SYNGAP1):c.3594C>T (p.Tyr1198=)
|
rs1007979214
|
0.00001
|
NM_006772.3(SYNGAP1):c.3624G>C (p.Arg1208=)
|
rs1476852507
|
0.00001
|
NM_006772.3(SYNGAP1):c.3662G>A (p.Arg1221Gln)
|
rs906055922
|
0.00001
|
NM_006772.3(SYNGAP1):c.3780G>A (p.Lys1260=)
|
rs993798547
|
0.00001
|
NM_006772.3(SYNGAP1):c.3794+9C>T
|
rs754561020
|
0.00001
|
NM_006772.3(SYNGAP1):c.3795-11C>T
|
rs1213528217
|
0.00001
|
NM_006772.3(SYNGAP1):c.3848C>T (p.Pro1283Leu)
|
rs1396355432
|
0.00001
|
NM_006772.3(SYNGAP1):c.387+16C>G
|
rs760453243
|
0.00001
|
NM_006772.3(SYNGAP1):c.388-4C>G
|
rs1358028598
|
0.00001
|
NM_006772.3(SYNGAP1):c.3886-5T>C
|
rs1215747659
|
0.00001
|
NM_006772.3(SYNGAP1):c.3922C>T (p.Arg1308Cys)
|
rs918621494
|
0.00001
|
NM_006772.3(SYNGAP1):c.393C>T (p.Gly131=)
|
rs747021068
|
0.00001
|
NM_006772.3(SYNGAP1):c.3995C>T (p.Thr1332Met)
|
rs779015339
|
0.00001
|
NM_006772.3(SYNGAP1):c.4006G>A (p.Glu1336Lys)
|
rs1226494061
|
0.00001
|
NM_006772.3(SYNGAP1):c.485G>A (p.Arg162His)
|
rs1441022412
|
0.00001
|
NM_006772.3(SYNGAP1):c.48G>A (p.Met16Ile)
|
rs1776745451
|
0.00001
|
NM_006772.3(SYNGAP1):c.514C>T (p.Arg172Trp)
|
rs142649710
|
0.00001
|
NM_006772.3(SYNGAP1):c.515G>A (p.Arg172Gln)
|
rs1464583488
|
0.00001
|
NM_006772.3(SYNGAP1):c.591G>A (p.Glu197=)
|
rs1777297993
|
0.00001
|
NM_006772.3(SYNGAP1):c.5G>A (p.Ser2Asn)
|
rs767981313
|
0.00001
|
NM_006772.3(SYNGAP1):c.603T>G (p.Asp201Glu)
|
rs768682743
|
0.00001
|
NM_006772.3(SYNGAP1):c.627G>A (p.Val209=)
|
rs1024950590
|
0.00001
|
NM_006772.3(SYNGAP1):c.664-13C>T
|
rs1272035734
|
0.00001
|
NM_006772.3(SYNGAP1):c.67+20G>T
|
rs1291904263
|
0.00001
|
NM_006772.3(SYNGAP1):c.680G>A (p.Gly227Glu)
|
rs1025271834
|
0.00001
|
NM_006772.3(SYNGAP1):c.723A>G (p.Lys241=)
|
rs780035236
|
0.00001
|
NM_006772.3(SYNGAP1):c.763-5G>A
|
rs1454552998
|
0.00001
|
NM_006772.3(SYNGAP1):c.76G>A (p.Gly26Arg)
|
rs1554304652
|
0.00001
|
NM_006772.3(SYNGAP1):c.78A>C (p.Gly26=)
|
rs773184002
|
0.00001
|
NM_006772.3(SYNGAP1):c.82T>C (p.Ser28Pro)
|
rs1776860607
|
0.00001
|
NM_006772.3(SYNGAP1):c.895C>T (p.Arg299Cys)
|
rs1760889495
|
0.00001
|
NM_006772.3(SYNGAP1):c.896G>A (p.Arg299His)
|
rs1385831038
|
0.00001
|
NM_006772.3(SYNGAP1):c.913A>G (p.Thr305Ala)
|
rs1226093664
|
0.00001
|
NM_006772.3(SYNGAP1):c.915C>T (p.Thr305=)
|
rs370654601
|
0.00001
|
NM_006772.3(SYNGAP1):c.933C>T (p.His311=)
|
rs1297876051
|
0.00001
|
NM_006772.3(SYNGAP1):c.939G>A (p.Glu313=)
|
rs373371204
|
0.00001
|
NM_006772.3(SYNGAP1):c.970C>T (p.Arg324Trp)
|
rs1760892056
|
0.00001
|
GRCh37/hg19 6p21.32(chr6:33388042-33388108)x1
|
|
|
NCBI36/hg18 6p21.32(chr6:33451137-33543925)x1
|
|
|
NC_000006.11:g.(?_33388042)_(33419683_?)dup
|
|
|
NC_000006.11:g.(?_33393555)_(33393700_?)dup
|
|
|
NC_000006.11:g.(?_33406026)_(33416171_?)del
|
|
|
NC_000006.12:g.(?_33420245)_(33451926_?)del
|
|
|
NC_000006.12:g.(?_33435132)_(33438311_?)del
|
|
|
NC_000006.12:g.33423588ATGAGG[3]
|
rs2151129780
|
|
NC_000006.12:g.33432163_33432188del
|
|
|
NM_006772.2(SYNGAP1):c.1532_1534del
|
rs1760930568
|
|
NM_006772.3(SYNGAP1):c.-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.1001del (p.Lys334fs)
|
rs1561784687
|
|
NM_006772.3(SYNGAP1):c.1003C>T (p.Arg335Cys)
|
|
|
NM_006772.3(SYNGAP1):c.1004G>A (p.Arg335His)
|
|
|
NM_006772.3(SYNGAP1):c.1006AAG[1] (p.Lys337del)
|
rs2151169092
|
|
NM_006772.3(SYNGAP1):c.1022_1023del (p.Gly341fs)
|
rs2151169133
|
|
NM_006772.3(SYNGAP1):c.1022_1030delinsTA (p.Gly341fs)
|
|
|
NM_006772.3(SYNGAP1):c.1025A>C (p.Tyr342Ser)
|
|
|
NM_006772.3(SYNGAP1):c.1027G>A (p.Val343Ile)
|
|
|
NM_006772.3(SYNGAP1):c.102C>A (p.Tyr34Ter)
|
rs147913000
|
|
NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser)
|
rs1760893537
|
|
NM_006772.3(SYNGAP1):c.1040C>A (p.Thr347Asn)
|
|
|
NM_006772.3(SYNGAP1):c.1042G>A (p.Val348Met)
|
rs2151169176
|
|
NM_006772.3(SYNGAP1):c.1045C>T (p.Pro349Ser)
|
rs2151169190
|
|
NM_006772.3(SYNGAP1):c.1047A>G (p.Pro349=)
|
|
|
NM_006772.3(SYNGAP1):c.1053del (p.Thr352fs)
|
rs1554121228
|
|
NM_006772.3(SYNGAP1):c.1055C>A (p.Thr352Asn)
|
rs1373454665
|
|
NM_006772.3(SYNGAP1):c.1057_1072del (p.Leu353fs)
|
|
|
NM_006772.3(SYNGAP1):c.1058T>C (p.Leu353Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1067G>A (p.Arg356His)
|
|
|
NM_006772.3(SYNGAP1):c.106C>T (p.His36Tyr)
|
|
|
NM_006772.3(SYNGAP1):c.1082A>C (p.Gln361Pro)
|
|
|
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.1095A>T (p.Val365=)
|
rs2151169348
|
|
NM_006772.3(SYNGAP1):c.1117G>T (p.Gly373Ter)
|
rs1554121245
|
|
NM_006772.3(SYNGAP1):c.1118G>A (p.Gly373Glu)
|
|
|
NM_006772.3(SYNGAP1):c.111C>A (p.Ser37=)
|
|
|
NM_006772.3(SYNGAP1):c.1121C>A (p.Ser374Tyr)
|
|
|
NM_006772.3(SYNGAP1):c.1126G>T (p.Gly376Cys)
|
|
|
NM_006772.3(SYNGAP1):c.1127del (p.Gly376fs)
|
rs1760896816
|
|
NM_006772.3(SYNGAP1):c.1136C>A (p.Ser379Ter)
|
rs371883908
|
|
NM_006772.3(SYNGAP1):c.1136C>G (p.Ser379Trp)
|
rs371883908
|
|
NM_006772.3(SYNGAP1):c.1139del (p.Gly380fs)
|
rs1760897529
|
|
NM_006772.3(SYNGAP1):c.1142G>T (p.Gly381Val)
|
|
|
NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter)
|
rs1760897843
|
|
NM_006772.3(SYNGAP1):c.1147G>T (p.Gly383Trp)
|
|
|
NM_006772.3(SYNGAP1):c.114G>A (p.Pro38=)
|
rs370803544
|
|
NM_006772.3(SYNGAP1):c.114G>T (p.Pro38=)
|
rs370803544
|
|
NM_006772.3(SYNGAP1):c.1150G>A (p.Gly384Ser)
|
rs1383773141
|
|
NM_006772.3(SYNGAP1):c.1153T>C (p.Ser385Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1154C>G (p.Ser385Trp)
|
rs766006911
|
|
NM_006772.3(SYNGAP1):c.1154C>T (p.Ser385Leu)
|
rs766006911
|
|
NM_006772.3(SYNGAP1):c.1157G>A (p.Gly386Glu)
|
|
|
NM_006772.3(SYNGAP1):c.1160dup (p.Gly388fs)
|
|
|
NM_006772.3(SYNGAP1):c.1161T>G (p.Gly387=)
|
|
|
NM_006772.3(SYNGAP1):c.1164C>T (p.Gly388=)
|
|
|
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.1169G>A (p.Gly390Glu)
|
|
|
NM_006772.3(SYNGAP1):c.1172G>T (p.Gly391Val)
|
rs759298823
|
|
NM_006772.3(SYNGAP1):c.1172del (p.Gly391fs)
|
|
|
NM_006772.3(SYNGAP1):c.117T>G (p.Tyr39Ter)
|
|
|
NM_006772.3(SYNGAP1):c.1187del (p.Gly396fs)
|
|
|
NM_006772.3(SYNGAP1):c.1193C>T (p.Pro398Leu)
|
|
|
NM_006772.3(SYNGAP1):c.1193del (p.Pro398fs)
|
|
|
NM_006772.3(SYNGAP1):c.1194G>A (p.Pro398=)
|
|
|
NM_006772.3(SYNGAP1):c.1195G>A (p.Ala399Thr)
|
|
|
NM_006772.3(SYNGAP1):c.1199T>A (p.Val400Glu)
|
rs1581987752
|
|
NM_006772.3(SYNGAP1):c.1202G>A (p.Arg401Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1205T>G (p.Leu402Arg)
|
rs1554121265
|
|
NM_006772.3(SYNGAP1):c.1214G>C (p.Arg405Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1218C>T (p.Tyr406=)
|
|
|
NM_006772.3(SYNGAP1):c.1219del (p.Gln407fs)
|
|
|
NM_006772.3(SYNGAP1):c.1221G>T (p.Gln407His)
|
|
|
NM_006772.3(SYNGAP1):c.1222A>G (p.Thr408Ala)
|
|
|
NM_006772.3(SYNGAP1):c.1224_1226del (p.Met409del)
|
rs2151169927
|
|
NM_006772.3(SYNGAP1):c.1231A>G (p.Ile411Val)
|
rs2151169932
|
|
NM_006772.3(SYNGAP1):c.1235dup (p.Leu412fs)
|
rs1561785003
|
|
NM_006772.3(SYNGAP1):c.123del (p.Pro42fs)
|
|
|
NM_006772.3(SYNGAP1):c.1240A>G (p.Met414Val)
|
|
|
NM_006772.3(SYNGAP1):c.1243G>T (p.Glu415Ter)
|
rs1554121273
|
|
NM_006772.3(SYNGAP1):c.1245G>A (p.Glu415=)
|
|
|
NM_006772.3(SYNGAP1):c.1249_1252dup (p.Lys418delinsIleTer)
|
rs1760904978
|
|
NM_006772.3(SYNGAP1):c.1253_1254del (p.Lys418fs)
|
rs1760905282
|
|
NM_006772.3(SYNGAP1):c.1253_1256del (p.Lys418fs)
|
|
|
NM_006772.3(SYNGAP1):c.1255G>T (p.Glu419Ter)
|
rs2151170014
|
|
NM_006772.3(SYNGAP1):c.1256A>G (p.Glu419Gly)
|
|
|
NM_006772.3(SYNGAP1):c.1257G>A (p.Glu419=)
|
|
|
NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser)
|
rs1760905358
|
|
NM_006772.3(SYNGAP1):c.1260T>G (p.Phe420Leu)
|
rs2151170025
|
|
NM_006772.3(SYNGAP1):c.1267del (p.Tyr423fs)
|
|
|
NM_006772.3(SYNGAP1):c.1269T>A (p.Tyr423Ter)
|
rs1561785045
|
|
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.1278C>T (p.Asn426=)
|
|
|
NM_006772.3(SYNGAP1):c.127G>A (p.Gly43Ser)
|
rs1776862933
|
|
NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter)
|
rs2151170078
|
|
NM_006772.3(SYNGAP1):c.1292T>C (p.Leu431Pro)
|
rs1581987885
|
|
NM_006772.3(SYNGAP1):c.1296dup (p.Ala433fs)
|
rs1581987902
|
|
NM_006772.3(SYNGAP1):c.1300G>A (p.Val434Ile)
|
rs797046027
|
|
NM_006772.3(SYNGAP1):c.1302C>A (p.Val434=)
|
|
|
NM_006772.3(SYNGAP1):c.1303T>C (p.Leu435=)
|
rs555077905
|
|
NM_006772.3(SYNGAP1):c.1303_1304dup (p.Leu435fs)
|
rs1760906699
|
|
NM_006772.3(SYNGAP1):c.1304T>G (p.Leu435Trp)
|
rs1554121281
|
|
NM_006772.3(SYNGAP1):c.1306G>A (p.Glu436Lys)
|
|
|
NM_006772.3(SYNGAP1):c.1312del (p.Ala438fs)
|
rs2151170227
|
|
NM_006772.3(SYNGAP1):c.1314C>T (p.Ala438=)
|
|
|
NM_006772.3(SYNGAP1):c.1322T>C (p.Val441Ala)
|
|
|
NM_006772.3(SYNGAP1):c.1326A>G (p.Lys442=)
|
rs2151170276
|
|
NM_006772.3(SYNGAP1):c.1329C>T (p.Gly443=)
|
rs2151170280
|
|
NM_006772.3(SYNGAP1):c.1330_1332del (p.Lys444del)
|
|
|
NM_006772.3(SYNGAP1):c.1339G>C (p.Val447Leu)
|
|
|
NM_006772.3(SYNGAP1):c.1341T>A (p.Val447=)
|
rs2151170322
|
|
NM_006772.3(SYNGAP1):c.1345A>G (p.Ser449Gly)
|
|
|
NM_006772.3(SYNGAP1):c.1345dup (p.Ser449fs)
|
rs1554121295
|
|
NM_006772.3(SYNGAP1):c.1349C>A (p.Ala450Glu)
|
rs1189124390
|
|
NM_006772.3(SYNGAP1):c.1352T>C (p.Leu451Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1354G>A (p.Val452Ile)
|
|
|
NM_006772.3(SYNGAP1):c.1354G>T (p.Val452Phe)
|
rs2151170390
|
|
NM_006772.3(SYNGAP1):c.1366C>T (p.Gln456Ter)
|
|
|
NM_006772.3(SYNGAP1):c.1367A>C (p.Gln456Pro)
|
|
|
NM_006772.3(SYNGAP1):c.136C>T (p.Pro46Ser)
|
|
|
NM_006772.3(SYNGAP1):c.1370G>A (p.Ser457Asn)
|
|
|
NM_006772.3(SYNGAP1):c.1374A>T (p.Thr458=)
|
rs1760908952
|
|
NM_006772.3(SYNGAP1):c.1386+10G>T
|
|
|
NM_006772.3(SYNGAP1):c.1386+10del
|
rs2151170476
|
|
NM_006772.3(SYNGAP1):c.1386+1G>A
|
|
|
NM_006772.3(SYNGAP1):c.13C>G (p.Arg5Gly)
|
|
|
NM_006772.3(SYNGAP1):c.13C>T (p.Arg5Ter)
|
rs2151121492
|
|
NM_006772.3(SYNGAP1):c.1406C>A (p.Ala469Asp)
|
rs1760914664
|
|
NM_006772.3(SYNGAP1):c.1406_1426del (p.Ala469_Phe476delinsVal)
|
rs1760914733
|
|
NM_006772.3(SYNGAP1):c.1407C>T (p.Ala469=)
|
rs1581988356
|
|
NM_006772.3(SYNGAP1):c.1408A>C (p.Met470Leu)
|
rs1554121320
|
|
NM_006772.3(SYNGAP1):c.1408A>G (p.Met470Val)
|
|
|
NM_006772.3(SYNGAP1):c.1409T>C (p.Met470Thr)
|
rs2151171048
|
|
NM_006772.3(SYNGAP1):c.1417G>A (p.Val473Ile)
|
|
|
NM_006772.3(SYNGAP1):c.141G>A (p.Arg47=)
|
|
|
NM_006772.3(SYNGAP1):c.1423C>T (p.Arg475Trp)
|
rs1760915141
|
|
NM_006772.3(SYNGAP1):c.1424G>A (p.Arg475Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1428C>G (p.Phe476Leu)
|
rs1349979668
|
|
NM_006772.3(SYNGAP1):c.1435C>A (p.Arg479=)
|
|
|
NM_006772.3(SYNGAP1):c.1436G>A (p.Arg479Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1440G>A (p.Glu480=)
|
|
|
NM_006772.3(SYNGAP1):c.1441_1444dup (p.Leu482fs)
|
|
|
NM_006772.3(SYNGAP1):c.1446C>T (p.Leu482=)
|
rs370597423
|
|
NM_006772.3(SYNGAP1):c.1447A>G (p.Ile483Val)
|
|
|
NM_006772.3(SYNGAP1):c.1453C>T (p.Arg485Cys)
|
|
|
NM_006772.3(SYNGAP1):c.1453del (p.Arg485fs)
|
|
|
NM_006772.3(SYNGAP1):c.1454G>A (p.Arg485His)
|
|
|
NM_006772.3(SYNGAP1):c.1456G>A (p.Glu486Lys)
|
rs1554121336
|
|
NM_006772.3(SYNGAP1):c.1463C>T (p.Thr488Met)
|
|
|
NM_006772.3(SYNGAP1):c.1464G>A (p.Thr488=)
|
rs778038638
|
|
NM_006772.3(SYNGAP1):c.1465C>T (p.Leu489Phe)
|
rs1554121340
|
|
NM_006772.3(SYNGAP1):c.1466T>C (p.Leu489Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1466_1469del (p.Leu489fs)
|
|
|
NM_006772.3(SYNGAP1):c.1468G>C (p.Ala490Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1474A>G (p.Lys492Glu)
|
|
|
NM_006772.3(SYNGAP1):c.1480A>G (p.Ile494Val)
|
|
|
NM_006772.3(SYNGAP1):c.1481T>G (p.Ile494Arg)
|
rs2151171287
|
|
NM_006772.3(SYNGAP1):c.1483G>A (p.Glu495Lys)
|
|
|
NM_006772.3(SYNGAP1):c.1485A>C (p.Glu495Asp)
|
|
|
NM_006772.3(SYNGAP1):c.1487A>G (p.Glu496Gly)
|
rs2151171315
|
|
NM_006772.3(SYNGAP1):c.1488G>A (p.Glu496=)
|
rs1581988521
|
|
NM_006772.3(SYNGAP1):c.1490A>G (p.Tyr497Cys)
|
|
|
NM_006772.3(SYNGAP1):c.1492_1493del (p.Met498fs)
|
|
|
NM_006772.3(SYNGAP1):c.1495del (p.Arg499fs)
|
rs1554121353
|
|
NM_006772.3(SYNGAP1):c.1498C>T (p.Leu500=)
|
rs1581988553
|
|
NM_006772.3(SYNGAP1):c.1499T>C (p.Leu500Pro)
|
|
|
NM_006772.3(SYNGAP1):c.14_27dup (p.Arg10fs)
|
|
|
NM_006772.3(SYNGAP1):c.1501_1504del (p.Ile501fs)
|
|
|
NM_006772.3(SYNGAP1):c.1502T>C (p.Ile501Thr)
|
|
|
NM_006772.3(SYNGAP1):c.1505G>A (p.Gly502Asp)
|
rs1554121354
|
|
NM_006772.3(SYNGAP1):c.1511A>G (p.Lys504Arg)
|
|
|
NM_006772.3(SYNGAP1):c.1513T>C (p.Tyr505His)
|
|
|
NM_006772.3(SYNGAP1):c.1513T>G (p.Tyr505Asp)
|
|
|
NM_006772.3(SYNGAP1):c.1516C>T (p.Leu506Phe)
|
|
|
NM_006772.3(SYNGAP1):c.1517T>C (p.Leu506Pro)
|
rs1760918521
|
|
NM_006772.3(SYNGAP1):c.1529T>G (p.Ile510Ser)
|
rs1554121364
|
|
NM_006772.3(SYNGAP1):c.1531+19C>A
|
|
|
NM_006772.3(SYNGAP1):c.1531+1del
|
rs2151171434
|
|
NM_006772.3(SYNGAP1):c.1531+7C>T
|
|
|
NM_006772.3(SYNGAP1):c.1531+9C>G
|
rs2151171453
|
|
NM_006772.3(SYNGAP1):c.1531G>A (p.Gly511Arg)
|
|
|
NM_006772.3(SYNGAP1):c.1531G>C (p.Gly511Arg)
|
rs1554121365
|
|
NM_006772.3(SYNGAP1):c.1532-12C>T
|
|
|
NM_006772.3(SYNGAP1):c.1532-13C>T
|
|
|
NM_006772.3(SYNGAP1):c.1532-17G>A
|
|
|
NM_006772.3(SYNGAP1):c.1532-1G>A
|
rs1760930644
|
|
NM_006772.3(SYNGAP1):c.1532-1G>C
|
rs1760930644
|
|
NM_006772.3(SYNGAP1):c.1532-20C>G
|
|
|
NM_006772.3(SYNGAP1):c.1532-20C>T
|
|
|
NM_006772.3(SYNGAP1):c.1532-3C>G
|
|
|
NM_006772.3(SYNGAP1):c.1532-3C>T
|
|
|
NM_006772.3(SYNGAP1):c.1532-6C>T
|
|
|
NM_006772.3(SYNGAP1):c.1532-8C>A
|
|
|
NM_006772.3(SYNGAP1):c.1534G>T (p.Glu512Ter)
|
rs2151172286
|
|
NM_006772.3(SYNGAP1):c.1540A>T (p.Ile514Phe)
|
|
|
NM_006772.3(SYNGAP1):c.1544G>A (p.Arg515His)
|
rs1294935709
|
|
NM_006772.3(SYNGAP1):c.1551G>C (p.Leu517=)
|
rs2151172315
|
|
NM_006772.3(SYNGAP1):c.1552T>C (p.Tyr518His)
|
|
|
NM_006772.3(SYNGAP1):c.1554_1555delinsA (p.Tyr518_Glu519delinsTer)
|
|
|
NM_006772.3(SYNGAP1):c.1556A>C (p.Glu519Ala)
|
rs1760931697
|
|
NM_006772.3(SYNGAP1):c.1558T>C (p.Ser520Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1559C>T (p.Ser520Phe)
|
|
|
NM_006772.3(SYNGAP1):c.155C>T (p.Ser52Leu)
|
rs1554304680
|
|
NM_006772.3(SYNGAP1):c.1564G>T (p.Glu522Ter)
|
|
|
NM_006772.3(SYNGAP1):c.1564del (p.Glu522fs)
|
rs2151172356
|
|
NM_006772.3(SYNGAP1):c.156G>A (p.Ser52=)
|
rs1554304681
|
|
NM_006772.3(SYNGAP1):c.1576del (p.Glu525_Val526insTer)
|
rs797046028
|
|
NM_006772.3(SYNGAP1):c.1579G>T (p.Asp527Tyr)
|
rs1760932359
|
|
NM_006772.3(SYNGAP1):c.1583delinsTG (p.Pro528fs)
|
rs2151172438
|
|
NM_006772.3(SYNGAP1):c.1586T>C (p.Ile529Thr)
|
rs2151172455
|
|
NM_006772.3(SYNGAP1):c.1593C>T (p.Cys531=)
|
|
|
NM_006772.3(SYNGAP1):c.1594A>C (p.Thr532Pro)
|
rs2151172479
|
|
NM_006772.3(SYNGAP1):c.1599A>T (p.Ala533=)
|
|
|
NM_006772.3(SYNGAP1):c.1600T>C (p.Ser534Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1602_1603del (p.Ser535fs)
|
rs2151172527
|
|
NM_006772.3(SYNGAP1):c.1603dup (p.Ser535fs)
|
|
|
NM_006772.3(SYNGAP1):c.1606T>G (p.Leu536Val)
|
rs756631380
|
|
NM_006772.3(SYNGAP1):c.1610C>T (p.Ala537Val)
|
rs895921108
|
|
NM_006772.3(SYNGAP1):c.1618C>T (p.Gln540Ter)
|
rs1554121438
|
|
NM_006772.3(SYNGAP1):c.1621G>C (p.Ala541Pro)
|
rs1554121439
|
|
NM_006772.3(SYNGAP1):c.1622C>G (p.Ala541Gly)
|
rs2151172597
|
|
NM_006772.3(SYNGAP1):c.1625A>G (p.Asn542Ser)
|
rs1760933953
|
|
NM_006772.3(SYNGAP1):c.1629G>A (p.Leu543=)
|
|
|
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter)
|
rs1554121443
|
|
NM_006772.3(SYNGAP1):c.1631G>A (p.Arg544Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1631G>C (p.Arg544Pro)
|
rs1480178032
|
|
NM_006772.3(SYNGAP1):c.1633_1635dup (p.Met545_Cys546insMet)
|
|
|
NM_006772.3(SYNGAP1):c.1635G>A (p.Met545Ile)
|
|
|
NM_006772.3(SYNGAP1):c.1639T>C (p.Cys547Arg)
|
rs2151172638
|
|
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.1651C>A (p.Leu551Met)
|
|
|
NM_006772.3(SYNGAP1):c.1652T>C (p.Leu551Pro)
|
rs1554121453
|
|
NM_006772.3(SYNGAP1):c.1658A>C (p.Lys553Thr)
|
|
|
NM_006772.3(SYNGAP1):c.1663G>A (p.Val555Ile)
|
|
|
NM_006772.3(SYNGAP1):c.1667A>G (p.Asn556Ser)
|
rs1456113410
|
|
NM_006772.3(SYNGAP1):c.1667A>T (p.Asn556Ile)
|
|
|
NM_006772.3(SYNGAP1):c.1671C>T (p.Ser557=)
|
rs2151172737
|
|
NM_006772.3(SYNGAP1):c.1673A>G (p.His558Arg)
|
|
|
NM_006772.3(SYNGAP1):c.1676+15G>A
|
|
|
NM_006772.3(SYNGAP1):c.1676+19G>A
|
|
|
NM_006772.3(SYNGAP1):c.1676+1G>A
|
rs2151172748
|
|
NM_006772.3(SYNGAP1):c.1676+1G>C
|
|
|
NM_006772.3(SYNGAP1):c.1676+213dup
|
rs57069921
|
|
NM_006772.3(SYNGAP1):c.1676+5G>C
|
rs1760935231
|
|
NM_006772.3(SYNGAP1):c.1676+5G>T
|
rs1760935231
|
|
NM_006772.3(SYNGAP1):c.1676+7C>T
|
|
|
NM_006772.3(SYNGAP1):c.1677-11C>G
|
|
|
NM_006772.3(SYNGAP1):c.1677-12C>T
|
rs975458793
|
|
NM_006772.3(SYNGAP1):c.1677-16C>G
|
rs572784864
|
|
NM_006772.3(SYNGAP1):c.1677-16C>T
|
rs572784864
|
|
NM_006772.3(SYNGAP1):c.1677-2A>G
|
rs2151180361
|
|
NM_006772.3(SYNGAP1):c.1677-3C>G
|
|
|
NM_006772.3(SYNGAP1):c.1677-3del
|
rs1381203371
|
|
NM_006772.3(SYNGAP1):c.1677-3dup
|
rs1381203371
|
|
NM_006772.3(SYNGAP1):c.1677-40TC[7]
|
rs138475712
|
|
NM_006772.3(SYNGAP1):c.1677-8C>A
|
|
|
NM_006772.3(SYNGAP1):c.1677C>T (p.Cys559=)
|
|
|
NM_006772.3(SYNGAP1):c.1678G>A (p.Val560Met)
|
|
|
NM_006772.3(SYNGAP1):c.1680G>A (p.Val560=)
|
|
|
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
|
rs397514670
|
|
NM_006772.3(SYNGAP1):c.1685del (p.Pro562fs)
|
rs1057519405
|
|
NM_006772.3(SYNGAP1):c.1695G>A (p.Leu565=)
|
|
|
NM_006772.3(SYNGAP1):c.1697AGG[1] (p.Glu567del)
|
rs2151180443
|
|
NM_006772.3(SYNGAP1):c.1697_1700dup (p.Val568fs)
|
rs1554121671
|
|
NM_006772.3(SYNGAP1):c.169C>T (p.Leu57Phe)
|
|
|
NM_006772.3(SYNGAP1):c.1702G>T (p.Val568Leu)
|
|
|
NM_006772.3(SYNGAP1):c.1706T>C (p.Phe569Ser)
|
|
|
NM_006772.3(SYNGAP1):c.1712C>A (p.Ser571Ter)
|
rs1554121682
|
|
NM_006772.3(SYNGAP1):c.1714T>G (p.Trp572Gly)
|
|
|
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>A (p.Arg573=)
|
|
|
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.1718G>T (p.Arg573Leu)
|
rs1554121685
|
|
NM_006772.3(SYNGAP1):c.1719G>A (p.Arg573=)
|
|
|
NM_006772.3(SYNGAP1):c.1719G>C (p.Arg573=)
|
|
|
NM_006772.3(SYNGAP1):c.1721del (p.Leu574fs)
|
rs1581991929
|
|
NM_006772.3(SYNGAP1):c.1725C>T (p.Arg575=)
|
|
|
NM_006772.3(SYNGAP1):c.1726T>C (p.Cys576Arg)
|
|
|
NM_006772.3(SYNGAP1):c.1728C>A (p.Cys576Ter)
|
|
|
NM_006772.3(SYNGAP1):c.1729G>A (p.Ala577Thr)
|
|
|
NM_006772.3(SYNGAP1):c.172A>G (p.Met58Val)
|
|
|
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter)
|
rs121918316
|
|
NM_006772.3(SYNGAP1):c.1736_1740del (p.Arg579fs)
|
|
|
NM_006772.3(SYNGAP1):c.1740C>G (p.Gly580=)
|
|
|
NM_006772.3(SYNGAP1):c.1741C>T (p.Arg581Trp)
|
rs2151180654
|
|
NM_006772.3(SYNGAP1):c.1742G>A (p.Arg581Gln)
|
rs1761010170
|
|
NM_006772.3(SYNGAP1):c.1743G>A (p.Arg581=)
|
|
|
NM_006772.3(SYNGAP1):c.1744del (p.Glu582fs)
|
rs1761010258
|
|
NM_006772.3(SYNGAP1):c.1752C>G (p.Ile584Met)
|
rs1761010544
|
|
NM_006772.3(SYNGAP1):c.175C>T (p.Leu59=)
|
|
|
NM_006772.3(SYNGAP1):c.1760G>C (p.Arg587Thr)
|
rs1761010851
|
|
NM_006772.3(SYNGAP1):c.1761del (p.Arg587fs)
|
|
|
NM_006772.3(SYNGAP1):c.1763T>A (p.Leu588His)
|
rs1064795645
|
|
NM_006772.3(SYNGAP1):c.1763T>C (p.Leu588Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1767C>G (p.Ile589Met)
|
rs1761011170
|
|
NM_006772.3(SYNGAP1):c.1768A>G (p.Ser590Gly)
|
|
|
NM_006772.3(SYNGAP1):c.1771G>C (p.Ala591Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1778T>A (p.Leu593His)
|
|
|
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs)
|
rs587780470
|
|
NM_006772.3(SYNGAP1):c.1784T>A (p.Leu595Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1784T>C (p.Leu595Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1786C>T (p.Arg596Cys)
|
|
|
NM_006772.3(SYNGAP1):c.1787G>A (p.Arg596His)
|
|
|
NM_006772.3(SYNGAP1):c.1787G>T (p.Arg596Leu)
|
|
|
NM_006772.3(SYNGAP1):c.1788C>T (p.Arg596=)
|
|
|
NM_006772.3(SYNGAP1):c.1789T>C (p.Phe597Leu)
|
|
|
NM_006772.3(SYNGAP1):c.1792C>G (p.Leu598Val)
|
|
|
NM_006772.3(SYNGAP1):c.1792del (p.Leu598fs)
|
rs1131691635
|
|
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu)
|
rs1761012352
|
|
NM_006772.3(SYNGAP1):c.1802C>T (p.Ala601Val)
|
rs1761012352
|
|
NM_006772.3(SYNGAP1):c.1803G>T (p.Ala601=)
|
|
|
NM_006772.3(SYNGAP1):c.1813C>T (p.Pro605Ser)
|
|
|
NM_006772.3(SYNGAP1):c.1814C>G (p.Pro605Arg)
|
rs1761018819
|
|
NM_006772.3(SYNGAP1):c.1821C>T (p.Leu607=)
|
rs2151180907
|
|
NM_006772.3(SYNGAP1):c.1823_1824del (p.Phe608fs)
|
rs1581992099
|
|
NM_006772.3(SYNGAP1):c.182A>C (p.Glu61Ala)
|
|
|
NM_006772.3(SYNGAP1):c.1835A>C (p.Gln612Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1851G>T (p.Glu617Asp)
|
|
|
NM_006772.3(SYNGAP1):c.1855A>T (p.Thr619Ser)
|
|
|
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)
|
rs1060503386
|
|
NM_006772.3(SYNGAP1):c.1865CCCTCA[1] (p.622TL[1])
|
rs1554121722
|
|
NM_006772.3(SYNGAP1):c.1873C>G (p.Leu625Val)
|
|
|
NM_006772.3(SYNGAP1):c.1877T>C (p.Ile626Thr)
|
|
|
NM_006772.3(SYNGAP1):c.187G>A (p.Glu63Lys)
|
|
|
NM_006772.3(SYNGAP1):c.187G>C (p.Glu63Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1887C>A (p.Val629=)
|
|
|
NM_006772.3(SYNGAP1):c.1887C>T (p.Val629=)
|
rs2151181047
|
|
NM_006772.3(SYNGAP1):c.189+14G>C
|
|
|
NM_006772.3(SYNGAP1):c.189+15_189+16delinsGC
|
rs2151129837
|
|
NM_006772.3(SYNGAP1):c.189+18G>C
|
|
|
NM_006772.3(SYNGAP1):c.189+1G>A
|
|
|
NM_006772.3(SYNGAP1):c.189+8_189+9del
|
|
|
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.190-12C>G
|
|
|
NM_006772.3(SYNGAP1):c.190-12del
|
rs2151134386
|
|
NM_006772.3(SYNGAP1):c.190-14C>T
|
|
|
NM_006772.3(SYNGAP1):c.190-16C>T
|
rs2151134381
|
|
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+17G>T
|
rs2151181173
|
|
NM_006772.3(SYNGAP1):c.1913+1G>A
|
rs2151181124
|
|
NM_006772.3(SYNGAP1):c.1913+1G>C
|
|
|
NM_006772.3(SYNGAP1):c.1913+2T>G
|
rs2151181133
|
|
NM_006772.3(SYNGAP1):c.1913+2_1913+5del
|
rs2151181120
|
|
NM_006772.3(SYNGAP1):c.1913+45_1913+59del
|
rs572578854
|
|
NM_006772.3(SYNGAP1):c.1913+5G>A
|
rs1761021575
|
|
NM_006772.3(SYNGAP1):c.1913A>G (p.Lys638Arg)
|
|
|
NM_006772.3(SYNGAP1):c.1914-14G>C
|
|
|
NM_006772.3(SYNGAP1):c.1914-15T>G
|
|
|
NM_006772.3(SYNGAP1):c.1914-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.1914-32_1914-29del
|
rs561866153
|
|
NM_006772.3(SYNGAP1):c.1914-3T>A
|
|
|
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.1914-9C>A
|
rs1761033033
|
|
NM_006772.3(SYNGAP1):c.1918A>T (p.Thr640Ser)
|
|
|
NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr)
|
rs1485749468
|
|
NM_006772.3(SYNGAP1):c.1941C>T (p.Gly647=)
|
|
|
NM_006772.3(SYNGAP1):c.1942T>C (p.Phe648Leu)
|
|
|
NM_006772.3(SYNGAP1):c.1947G>C (p.Met649Ile)
|
rs2151182327
|
|
NM_006772.3(SYNGAP1):c.194A>G (p.His65Arg)
|
rs1776941711
|
|
NM_006772.3(SYNGAP1):c.1957C>G (p.Leu653Val)
|
|
|
NM_006772.3(SYNGAP1):c.1957C>T (p.Leu653=)
|
|
|
NM_006772.3(SYNGAP1):c.195C>T (p.His65=)
|
|
|
NM_006772.3(SYNGAP1):c.1964T>A (p.Leu655Gln)
|
rs2151182352
|
|
NM_006772.3(SYNGAP1):c.1966G>C (p.Glu656Gln)
|
|
|
NM_006772.3(SYNGAP1):c.196C>G (p.Pro66Ala)
|
rs1776941906
|
|
NM_006772.3(SYNGAP1):c.196C>T (p.Pro66Ser)
|
|
|
NM_006772.3(SYNGAP1):c.1970G>T (p.Trp657Leu)
|
|
|
NM_006772.3(SYNGAP1):c.1971G>C (p.Trp657Cys)
|
|
|
NM_006772.3(SYNGAP1):c.1976C>T (p.Ser659Phe)
|
rs2151182395
|
|
NM_006772.3(SYNGAP1):c.198C>A (p.Pro66=)
|
|
|
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.1991T>C (p.Leu664Ser)
|
|
|
NM_006772.3(SYNGAP1):c.1995T>G (p.Tyr665Ter)
|
|
|
NM_006772.3(SYNGAP1):c.1997A>G (p.Glu666Gly)
|
rs1761035011
|
|
NM_006772.3(SYNGAP1):c.1998G>C (p.Glu666Asp)
|
rs1561787401
|
|
NM_006772.3(SYNGAP1):c.199C>T (p.Leu67=)
|
|
|
NM_006772.3(SYNGAP1):c.199del (p.Leu67fs)
|
rs1554119814
|
|
NM_006772.3(SYNGAP1):c.2001C>A (p.Ile667=)
|
|
|
NM_006772.3(SYNGAP1):c.2003C>T (p.Ser668Phe)
|
rs2151182460
|
|
NM_006772.3(SYNGAP1):c.2007T>C (p.Asn669=)
|
|
|
NM_006772.3(SYNGAP1):c.200del (p.Leu67fs)
|
|
|
NM_006772.3(SYNGAP1):c.2014A>G (p.Thr672Ala)
|
|
|
NM_006772.3(SYNGAP1):c.2014del (p.Thr672fs)
|
|
|
NM_006772.3(SYNGAP1):c.2015C>A (p.Thr672Lys)
|
|
|
NM_006772.3(SYNGAP1):c.2015C>T (p.Thr672Met)
|
rs1405483444
|
|
NM_006772.3(SYNGAP1):c.201A>G (p.Leu67=)
|
|
|
NM_006772.3(SYNGAP1):c.2029A>T (p.Ser677Cys)
|
|
|
NM_006772.3(SYNGAP1):c.2037T>C (p.Phe679=)
|
|
|
NM_006772.3(SYNGAP1):c.2040G>A (p.Glu680=)
|
|
|
NM_006772.3(SYNGAP1):c.2047A>G (p.Ile683Val)
|
rs147668681
|
|
NM_006772.3(SYNGAP1):c.2050G>A (p.Asp684Asn)
|
|
|
NM_006772.3(SYNGAP1):c.2050G>C (p.Asp684His)
|
|
|
NM_006772.3(SYNGAP1):c.2052C>T (p.Asp684=)
|
rs750115310
|
|
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)
|
rs1060503383
|
|
NM_006772.3(SYNGAP1):c.2060G>A (p.Arg687Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2066_2071delinsC (p.Leu689fs)
|
rs797046029
|
|
NM_006772.3(SYNGAP1):c.2067C>T (p.Leu689=)
|
rs1554121850
|
|
NM_006772.3(SYNGAP1):c.2068T>C (p.Ser690Pro)
|
rs1761036812
|
|
NM_006772.3(SYNGAP1):c.2071A>C (p.Thr691Pro)
|
rs1581992998
|
|
NM_006772.3(SYNGAP1):c.2075T>A (p.Leu692Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2075T>C (p.Leu692Pro)
|
rs1761037096
|
|
NM_006772.3(SYNGAP1):c.2076G>C (p.Leu692=)
|
|
|
NM_006772.3(SYNGAP1):c.2085A>C (p.Leu695=)
|
rs1581993006
|
|
NM_006772.3(SYNGAP1):c.2085A>G (p.Leu695=)
|
|
|
NM_006772.3(SYNGAP1):c.2085A>T (p.Leu695=)
|
|
|
NM_006772.3(SYNGAP1):c.2086C>G (p.Leu696Val)
|
|
|
NM_006772.3(SYNGAP1):c.2087T>C (p.Leu696Pro)
|
rs2151182679
|
|
NM_006772.3(SYNGAP1):c.2089T>C (p.Trp697Arg)
|
rs1581993016
|
|
NM_006772.3(SYNGAP1):c.2090G>A (p.Trp697Ter)
|
|
|
NM_006772.3(SYNGAP1):c.2098C>T (p.Leu700=)
|
|
|
NM_006772.3(SYNGAP1):c.2101C>T (p.Pro701Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2103C>G (p.Pro701=)
|
|
|
NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter)
|
rs1554121861
|
|
NM_006772.3(SYNGAP1):c.2104_2115+14del
|
rs1064792984
|
|
NM_006772.3(SYNGAP1):c.2105A>G (p.Gln702Arg)
|
rs2151182770
|
|
NM_006772.3(SYNGAP1):c.2111G>C (p.Ser704Thr)
|
rs775884756
|
|
NM_006772.3(SYNGAP1):c.2113A>C (p.Lys705Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2115+17T>C
|
rs2151182839
|
|
NM_006772.3(SYNGAP1):c.2115+1G>C
|
|
|
NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=)
|
rs1057518786
|
|
NM_006772.3(SYNGAP1):c.2115G>C (p.Lys705Asn)
|
rs1057518786
|
|
NM_006772.3(SYNGAP1):c.2116-13C>T
|
|
|
NM_006772.3(SYNGAP1):c.2116-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.2116-3C>T
|
rs2151183616
|
|
NM_006772.3(SYNGAP1):c.2116-4C>T
|
rs925997309
|
|
NM_006772.3(SYNGAP1):c.2116-8C>T
|
rs1442597772
|
|
NM_006772.3(SYNGAP1):c.2116G>A (p.Glu706Lys)
|
|
|
NM_006772.3(SYNGAP1):c.2121C>T (p.Ala707=)
|
|
|
NM_006772.3(SYNGAP1):c.2131C>G (p.Leu711Val)
|
|
|
NM_006772.3(SYNGAP1):c.2135_2142del (p.Gly712fs)
|
rs1561787690
|
|
NM_006772.3(SYNGAP1):c.2143C>T (p.Pro715Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2144_2146del (p.Pro715del)
|
rs2151183695
|
|
NM_006772.3(SYNGAP1):c.2145C>G (p.Pro715=)
|
|
|
NM_006772.3(SYNGAP1):c.2147G>A (p.Arg716Gln)
|
rs1060503384
|
|
NM_006772.3(SYNGAP1):c.2151C>T (p.Leu717=)
|
|
|
NM_006772.3(SYNGAP1):c.2158G>A (p.Asp720Asn)
|
|
|
NM_006772.3(SYNGAP1):c.2160C>T (p.Asp720=)
|
|
|
NM_006772.3(SYNGAP1):c.2162T>G (p.Ile721Ser)
|
rs1581993511
|
|
NM_006772.3(SYNGAP1):c.2168C>T (p.Thr723Ile)
|
rs774729898
|
|
NM_006772.3(SYNGAP1):c.2178_2179delinsTT (p.Arg726_Asn727delinsSerTyr)
|
|
|
NM_006772.3(SYNGAP1):c.2184C>A (p.Pro728=)
|
|
|
NM_006772.3(SYNGAP1):c.2186A>G (p.Asn729Ser)
|
|
|
NM_006772.3(SYNGAP1):c.218G>A (p.Arg73Lys)
|
|
|
NM_006772.3(SYNGAP1):c.2195G>C (p.Arg732Thr)
|
rs934177451
|
|
NM_006772.3(SYNGAP1):c.2197C>T (p.Gln733Ter)
|
rs1554121924
|
|
NM_006772.3(SYNGAP1):c.2200C>T (p.Pro734Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys)
|
rs1202720979
|
|
NM_006772.3(SYNGAP1):c.2207G>A (p.Arg736His)
|
rs151334677
|
|
NM_006772.3(SYNGAP1):c.2209C>T (p.Gln737Ter)
|
rs1554121932
|
|
NM_006772.3(SYNGAP1):c.2210A>C (p.Gln737Pro)
|
|
|
NM_006772.3(SYNGAP1):c.2214T>G (p.Ser738Arg)
|
rs1243545018
|
|
NM_006772.3(SYNGAP1):c.2215G>C (p.Glu739Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2215G>T (p.Glu739Ter)
|
rs1554121934
|
|
NM_006772.3(SYNGAP1):c.2216A>T (p.Glu739Val)
|
|
|
NM_006772.3(SYNGAP1):c.2217G>C (p.Glu739Asp)
|
|
|
NM_006772.3(SYNGAP1):c.2219G>A (p.Arg740Gln)
|
|
|
NM_006772.3(SYNGAP1):c.221G>A (p.Ser74Asn)
|
|
|
NM_006772.3(SYNGAP1):c.2223C>T (p.Pro741=)
|
rs765916822
|
|
NM_006772.3(SYNGAP1):c.2224C>T (p.Arg742Trp)
|
|
|
NM_006772.3(SYNGAP1):c.2226G>T (p.Arg742=)
|
|
|
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.2238G>A (p.Val746=)
|
|
|
NM_006772.3(SYNGAP1):c.2239G>C (p.Val747Leu)
|
|
|
NM_006772.3(SYNGAP1):c.223G>A (p.Glu75Lys)
|
|
|
NM_006772.3(SYNGAP1):c.223G>T (p.Glu75Ter)
|
|
|
NM_006772.3(SYNGAP1):c.2243T>G (p.Leu748Arg)
|
rs886868218
|
|
NM_006772.3(SYNGAP1):c.2245C>T (p.Arg749Trp)
|
|
|
NM_006772.3(SYNGAP1):c.2246G>A (p.Arg749Gln)
|
rs1581993638
|
|
NM_006772.3(SYNGAP1):c.2249G>A (p.Gly750Glu)
|
rs2151183981
|
|
NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs)
|
rs1761049027
|
|
NM_006772.3(SYNGAP1):c.2255C>T (p.Ser752Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2266C>T (p.Gln756Ter)
|
rs1554121960
|
|
NM_006772.3(SYNGAP1):c.2268G>A (p.Gln756=)
|
|
|
NM_006772.3(SYNGAP1):c.2270G>C (p.Gly757Ala)
|
|
|
NM_006772.3(SYNGAP1):c.2272dup (p.Tyr758fs)
|
rs1561787845
|
|
NM_006772.3(SYNGAP1):c.2275A>C (p.Met759Leu)
|
rs369386806
|
|
NM_006772.3(SYNGAP1):c.2277G>A (p.Met759Ile)
|
|
|
NM_006772.3(SYNGAP1):c.227C>G (p.Ser76Cys)
|
|
|
NM_006772.3(SYNGAP1):c.2282G>A (p.Arg761Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2282G>C (p.Arg761Pro)
|
rs1203597280
|
|
NM_006772.3(SYNGAP1):c.2283G>A (p.Arg761=)
|
rs2151184114
|
|
NM_006772.3(SYNGAP1):c.2291A>G (p.Asn764Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2293del (p.Ser765fs)
|
rs1761050922
|
|
NM_006772.3(SYNGAP1):c.2294+12G>C
|
|
|
NM_006772.3(SYNGAP1):c.2294+13G>A
|
rs1761051511
|
|
NM_006772.3(SYNGAP1):c.2294+14G>A
|
rs2151184207
|
|
NM_006772.3(SYNGAP1):c.2294+1G>A
|
rs1554121970
|
|
NM_006772.3(SYNGAP1):c.2294+1G>C
|
|
|
NM_006772.3(SYNGAP1):c.2294+1G>T
|
rs1554121970
|
|
NM_006772.3(SYNGAP1):c.2294+3G>A
|
|
|
NM_006772.3(SYNGAP1):c.2294+5G>T
|
|
|
NM_006772.3(SYNGAP1):c.2294+9C>T
|
|
|
NM_006772.3(SYNGAP1):c.2294G>A (p.Ser765Asn)
|
|
|
NM_006772.3(SYNGAP1):c.2295-11TC[3]
|
|
|
NM_006772.3(SYNGAP1):c.2295-11TC[5]
|
rs2151186064
|
|
NM_006772.3(SYNGAP1):c.2295-13C>T
|
|
|
NM_006772.3(SYNGAP1):c.2295-17T>C
|
rs1259934375
|
|
NM_006772.3(SYNGAP1):c.2295-19T>C
|
|
|
NM_006772.3(SYNGAP1):c.2295-20C>G
|
|
|
NM_006772.3(SYNGAP1):c.2295-20C>T
|
|
|
NM_006772.3(SYNGAP1):c.2299A>G (p.Ile767Val)
|
rs2151186108
|
|
NM_006772.3(SYNGAP1):c.2300T>C (p.Ile767Thr)
|
rs1761069975
|
|
NM_006772.3(SYNGAP1):c.2302G>A (p.Asp768Asn)
|
|
|
NM_006772.3(SYNGAP1):c.2302G>T (p.Asp768Tyr)
|
rs762736087
|
|
NM_006772.3(SYNGAP1):c.2305C>T (p.Leu769Phe)
|
|
|
NM_006772.3(SYNGAP1):c.2307T>C (p.Leu769=)
|
|
|
NM_006772.3(SYNGAP1):c.2323C>T (p.Arg775Ter)
|
rs1554122080
|
|
NM_006772.3(SYNGAP1):c.2324G>C (p.Arg775Pro)
|
|
|
NM_006772.3(SYNGAP1):c.2328C>A (p.Gly776=)
|
|
|
NM_006772.3(SYNGAP1):c.2336+23G>C
|
rs371700905
|
|
NM_006772.3(SYNGAP1):c.2336+7G>A
|
|
|
NM_006772.3(SYNGAP1):c.2336+9C>T
|
|
|
NM_006772.3(SYNGAP1):c.2337-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.2337-20G>A
|
|
|
NM_006772.3(SYNGAP1):c.2337-6T>A
|
|
|
NM_006772.3(SYNGAP1):c.2337-7C>G
|
rs1761085805
|
|
NM_006772.3(SYNGAP1):c.2337-7C>T
|
|
|
NM_006772.3(SYNGAP1):c.2337-9_2337-3del
|
|
|
NM_006772.3(SYNGAP1):c.2339C>G (p.Ser780Cys)
|
|
|
NM_006772.3(SYNGAP1):c.233G>T (p.Arg78Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2343G>A (p.Met781Ile)
|
|
|
NM_006772.3(SYNGAP1):c.2349G>A (p.Met783Ile)
|
|
|
NM_006772.3(SYNGAP1):c.2350G>A (p.Ala784Thr)
|
rs768267846
|
|
NM_006772.3(SYNGAP1):c.2350_2354dup (p.Pro787fs)
|
|
|
NM_006772.3(SYNGAP1):c.2354G>A (p.Arg785His)
|
|
|
NM_006772.3(SYNGAP1):c.2354dup (p.Leu786fs)
|
|
|
NM_006772.3(SYNGAP1):c.2359C>A (p.Pro787Thr)
|
rs765388278
|
|
NM_006772.3(SYNGAP1):c.2359C>T (p.Pro787Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs)
|
rs1761087122
|
|
NM_006772.3(SYNGAP1):c.2369C>G (p.Thr790Ser)
|
rs552867155
|
|
NM_006772.3(SYNGAP1):c.2370C>G (p.Thr790=)
|
|
|
NM_006772.3(SYNGAP1):c.2385C>T (p.Pro795=)
|
|
|
NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs)
|
rs1581995425
|
|
NM_006772.3(SYNGAP1):c.2387dup (p.Pro797fs)
|
rs1581995425
|
|
NM_006772.3(SYNGAP1):c.2388A>T (p.Pro796=)
|
|
|
NM_006772.3(SYNGAP1):c.2391_2392dup (p.Pro798fs)
|
rs1581995453
|
|
NM_006772.3(SYNGAP1):c.2393C>T (p.Pro798Leu)
|
rs369972072
|
|
NM_006772.3(SYNGAP1):c.2394G>T (p.Pro798=)
|
|
|
NM_006772.3(SYNGAP1):c.2400T>C (p.Gly800=)
|
|
|
NM_006772.3(SYNGAP1):c.2401G>A (p.Gly801Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2405G>A (p.Gly802Asp)
|
rs1581995501
|
|
NM_006772.3(SYNGAP1):c.2408A>G (p.Lys803Arg)
|
rs1761090399
|
|
NM_006772.3(SYNGAP1):c.2414T>C (p.Leu805Pro)
|
rs1761090775
|
|
NM_006772.3(SYNGAP1):c.2415G>T (p.Leu805=)
|
rs1298837548
|
|
NM_006772.3(SYNGAP1):c.2418del (p.Tyr807fs)
|
rs1554122179
|
|
NM_006772.3(SYNGAP1):c.2420A>G (p.Tyr807Cys)
|
|
|
NM_006772.3(SYNGAP1):c.2420A>T (p.Tyr807Phe)
|
rs1403610596
|
|
NM_006772.3(SYNGAP1):c.2421T>C (p.Tyr807=)
|
|
|
NM_006772.3(SYNGAP1):c.2434C>T (p.Pro812Ser)
|
rs2151188091
|
|
NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs)
|
rs397515320
|
|
NM_006772.3(SYNGAP1):c.2439G>A (p.Leu813=)
|
|
|
NM_006772.3(SYNGAP1):c.2443C>A (p.Arg815Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2443C>G (p.Arg815Gly)
|
rs1216243827
|
|
NM_006772.3(SYNGAP1):c.2443C>T (p.Arg815Cys)
|
rs1216243827
|
|
NM_006772.3(SYNGAP1):c.2444G>A (p.Arg815His)
|
rs372737279
|
|
NM_006772.3(SYNGAP1):c.2444G>T (p.Arg815Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2446del (p.Ser816fs)
|
|
|
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.2457A>G (p.Ala819=)
|
rs1000081481
|
|
NM_006772.3(SYNGAP1):c.2459A>G (p.Tyr820Cys)
|
rs1761092262
|
|
NM_006772.3(SYNGAP1):c.2472C>T (p.Ser824=)
|
|
|
NM_006772.3(SYNGAP1):c.2475G>A (p.Ser825=)
|
|
|
NM_006772.3(SYNGAP1):c.2478C>T (p.Asp826=)
|
rs754494467
|
|
NM_006772.3(SYNGAP1):c.2485G>A (p.Glu829Lys)
|
|
|
NM_006772.3(SYNGAP1):c.2493G>C (p.Glu831Asp)
|
rs1478319019
|
|
NM_006772.3(SYNGAP1):c.2494C>T (p.Gln832Ter)
|
rs1554122196
|
|
NM_006772.3(SYNGAP1):c.249A>T (p.Arg83Ser)
|
rs1554119825
|
|
NM_006772.3(SYNGAP1):c.2502G>C (p.Met834Ile)
|
|
|
NM_006772.3(SYNGAP1):c.2503C>A (p.Leu835Met)
|
|
|
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.2516dup (p.Ser840fs)
|
rs2151188291
|
|
NM_006772.3(SYNGAP1):c.2518A>T (p.Ser840Cys)
|
|
|
NM_006772.3(SYNGAP1):c.2521G>A (p.Val841Met)
|
|
|
NM_006772.3(SYNGAP1):c.2523G>A (p.Val841=)
|
|
|
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.2538dup (p.Gln847fs)
|
rs2151188326
|
|
NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter)
|
rs1554122200
|
|
NM_006772.3(SYNGAP1):c.2548G>A (p.Gly850Arg)
|
|
|
NM_006772.3(SYNGAP1):c.2550G>A (p.Gly850=)
|
|
|
NM_006772.3(SYNGAP1):c.2550del (p.Pro851fs)
|
|
|
NM_006772.3(SYNGAP1):c.2557G>C (p.Gly853Arg)
|
|
|
NM_006772.3(SYNGAP1):c.2560C>T (p.Arg854Cys)
|
|
|
NM_006772.3(SYNGAP1):c.2561G>A (p.Arg854His)
|
rs1761094271
|
|
NM_006772.3(SYNGAP1):c.2562C>T (p.Arg854=)
|
rs1031143430
|
|
NM_006772.3(SYNGAP1):c.2562_2578del (p.Leu855fs)
|
rs1561788984
|
|
NM_006772.3(SYNGAP1):c.2567A>G (p.Asn856Ser)
|
|
|
NM_006772.3(SYNGAP1):c.256G>A (p.Val86Ile)
|
rs374819241
|
|
NM_006772.3(SYNGAP1):c.2571C>T (p.Ser857=)
|
|
|
NM_006772.3(SYNGAP1):c.2573G>A (p.Ser858Asn)
|
rs746764816
|
|
NM_006772.3(SYNGAP1):c.2578G>A (p.Val860Ile)
|
rs1060503387
|
|
NM_006772.3(SYNGAP1):c.2578_2579del (p.Val860fs)
|
rs879253762
|
|
NM_006772.3(SYNGAP1):c.2582C>T (p.Ser861Leu)
|
rs770969837
|
|
NM_006772.3(SYNGAP1):c.2583G>C (p.Ser861=)
|
|
|
NM_006772.3(SYNGAP1):c.2591_2592del (p.Ala864fs)
|
|
|
NM_006772.3(SYNGAP1):c.2594_2602del (p.Ala865_Gly867del)
|
|
|
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile)
|
rs768878991
|
|
NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs)
|
rs587780474
|
|
NM_006772.3(SYNGAP1):c.2608C>G (p.Leu870Val)
|
rs1761095997
|
|
NM_006772.3(SYNGAP1):c.2619C>G (p.Ser873Arg)
|
rs2151188538
|
|
NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs)
|
rs1761096151
|
|
NM_006772.3(SYNGAP1):c.2623G>A (p.Ala875Thr)
|
|
|
NM_006772.3(SYNGAP1):c.2627C>T (p.Ser876Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2632A>G (p.Thr878Ala)
|
|
|
NM_006772.3(SYNGAP1):c.2635_2636delinsAA (p.Ala879Lys)
|
rs1561789088
|
|
NM_006772.3(SYNGAP1):c.263T>C (p.Val88Ala)
|
|
|
NM_006772.3(SYNGAP1):c.2647C>T (p.Leu883=)
|
|
|
NM_006772.3(SYNGAP1):c.2650C>A (p.Arg884=)
|
|
|
NM_006772.3(SYNGAP1):c.2650C>T (p.Arg884Trp)
|
|
|
NM_006772.3(SYNGAP1):c.2651G>A (p.Arg884Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2657C>T (p.Ala886Val)
|
|
|
NM_006772.3(SYNGAP1):c.265C>G (p.Pro89Ala)
|
rs1776944236
|
|
NM_006772.3(SYNGAP1):c.2667A>C (p.Gly889=)
|
|
|
NM_006772.3(SYNGAP1):c.2667del (p.Arg890fs)
|
|
|
NM_006772.3(SYNGAP1):c.2669G>A (p.Arg890His)
|
rs369681579
|
|
NM_006772.3(SYNGAP1):c.266C>T (p.Pro89Leu)
|
rs1554119830
|
|
NM_006772.3(SYNGAP1):c.2670C>T (p.Arg890=)
|
|
|
NM_006772.3(SYNGAP1):c.2677del (p.Gln893fs)
|
rs1581995953
|
|
NM_006772.3(SYNGAP1):c.2684G>A (p.Ser895Asn)
|
|
|
NM_006772.3(SYNGAP1):c.2690C>T (p.Ser897Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2694C>T (p.Ser898=)
|
rs2151188732
|
|
NM_006772.3(SYNGAP1):c.269T>A (p.Val90Glu)
|
rs1776944517
|
|
NM_006772.3(SYNGAP1):c.2700G>C (p.Thr900=)
|
rs757132718
|
|
NM_006772.3(SYNGAP1):c.2702C>T (p.Ala901Val)
|
rs1356491362
|
|
NM_006772.3(SYNGAP1):c.2703_2715del (p.Ala902fs)
|
|
|
NM_006772.3(SYNGAP1):c.2711T>C (p.Met904Thr)
|
rs2151188795
|
|
NM_006772.3(SYNGAP1):c.2714G>A (p.Arg905His)
|
rs1198976275
|
|
NM_006772.3(SYNGAP1):c.2717del (p.Leu906fs)
|
rs2151188826
|
|
NM_006772.3(SYNGAP1):c.2719A>T (p.Ser907Cys)
|
rs2151188832
|
|
NM_006772.3(SYNGAP1):c.2724G>C (p.Gln908His)
|
rs1554122236
|
|
NM_006772.3(SYNGAP1):c.2726del (p.Met909fs)
|
rs1561789215
|
|
NM_006772.3(SYNGAP1):c.2729G>C (p.Gly910Ala)
|
|
|
NM_006772.3(SYNGAP1):c.272A>G (p.Glu91Gly)
|
rs1554119835
|
|
NM_006772.3(SYNGAP1):c.2730T>A (p.Gly910=)
|
rs2151188851
|
|
NM_006772.3(SYNGAP1):c.2733C>T (p.Val911=)
|
rs1581996050
|
|
NM_006772.3(SYNGAP1):c.2735C>A (p.Thr912Asn)
|
|
|
NM_006772.3(SYNGAP1):c.2736C>G (p.Thr912=)
|
|
|
NM_006772.3(SYNGAP1):c.273G>A (p.Glu91=)
|
|
|
NM_006772.3(SYNGAP1):c.2741A>T (p.Asp914Val)
|
|
|
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.2758C>T (p.Gln920Ter)
|
|
|
NM_006772.3(SYNGAP1):c.2763G>T (p.Leu921=)
|
|
|
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter)
|
rs1554122244
|
|
NM_006772.3(SYNGAP1):c.2765G>A (p.Arg922Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2768T>A (p.Ile923Asn)
|
rs1581996132
|
|
NM_006772.3(SYNGAP1):c.2769C>A (p.Ile923=)
|
|
|
NM_006772.3(SYNGAP1):c.276del (p.Arg93fs)
|
|
|
NM_006772.3(SYNGAP1):c.2774del (p.Leu925fs)
|
|
|
NM_006772.3(SYNGAP1):c.2776_2777del (p.Ser926fs)
|
|
|
NM_006772.3(SYNGAP1):c.277C>A (p.Arg93=)
|
|
|
NM_006772.3(SYNGAP1):c.277C>G (p.Arg93Gly)
|
|
|
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter)
|
rs1554122249
|
|
NM_006772.3(SYNGAP1):c.2787C>T (p.Asn929=)
|
|
|
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs)
|
rs1554122252
|
|
NM_006772.3(SYNGAP1):c.2804CTG[1] (p.Ala936del)
|
rs1561789303
|
|
NM_006772.3(SYNGAP1):c.2809G>C (p.Asp937His)
|
|
|
NM_006772.3(SYNGAP1):c.2812G>A (p.Gly938Arg)
|
rs1761102209
|
|
NM_006772.3(SYNGAP1):c.2818G>A (p.Gly940Ser)
|
rs1761102337
|
|
NM_006772.3(SYNGAP1):c.2818G>C (p.Gly940Arg)
|
|
|
NM_006772.3(SYNGAP1):c.2818_2852del (p.Gly940fs)
|
rs1561789313
|
|
NM_006772.3(SYNGAP1):c.2822C>T (p.Pro941Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2823C>T (p.Pro941=)
|
|
|
NM_006772.3(SYNGAP1):c.2825C>T (p.Pro942Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2825dup (p.Gly943fs)
|
|
|
NM_006772.3(SYNGAP1):c.2835T>A (p.His945Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2852A>G (p.His951Arg)
|
rs1761103512
|
|
NM_006772.3(SYNGAP1):c.2852_2857del (p.His951_Gly952del)
|
|
|
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser)
|
rs1038956173
|
|
NM_006772.3(SYNGAP1):c.2855G>T (p.Gly952Val)
|
|
|
NM_006772.3(SYNGAP1):c.2856C>G (p.Gly952=)
|
rs535906467
|
|
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.2860C>T (p.Pro954Ser)
|
rs1761103918
|
|
NM_006772.3(SYNGAP1):c.2863T>C (p.Ser955Pro)
|
|
|
NM_006772.3(SYNGAP1):c.2867_2872dup (p.His957_His958insProHis)
|
rs2151189234
|
|
NM_006772.3(SYNGAP1):c.2868C>T (p.Ser956=)
|
rs2151189242
|
|
NM_006772.3(SYNGAP1):c.286G>A (p.Gly96Ser)
|
rs1776945245
|
|
NM_006772.3(SYNGAP1):c.2873A>C (p.His958Pro)
|
rs1465908298
|
|
NM_006772.3(SYNGAP1):c.2874CCA[2] (p.His964_His966del)
|
rs762369615
|
|
NM_006772.3(SYNGAP1):c.2874CCA[4] (p.His966del)
|
rs762369615
|
|
NM_006772.3(SYNGAP1):c.2874CCA[6] (p.His966dup)
|
rs762369615
|
|
NM_006772.3(SYNGAP1):c.2874CCA[7] (p.His965_His966dup)
|
rs762369615
|
|
NM_006772.3(SYNGAP1):c.2882_2899dup (p.His966_Arg967insHisHisHisHisHisHis)
|
|
|
NM_006772.3(SYNGAP1):c.2886C>T (p.His962=)
|
|
|
NM_006772.3(SYNGAP1):c.2889T>C (p.His963=)
|
rs1581996306
|
|
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.28del (p.Arg10fs)
|
|
|
NM_006772.3(SYNGAP1):c.2900G>T (p.Arg967Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2909A>G (p.Glu970Gly)
|
|
|
NM_006772.3(SYNGAP1):c.2912C>A (p.Pro971His)
|
|
|
NM_006772.3(SYNGAP1):c.2914C>G (p.Pro972Ala)
|
|
|
NM_006772.3(SYNGAP1):c.2914C>T (p.Pro972Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs)
|
rs1064796547
|
|
NM_006772.3(SYNGAP1):c.291G>T (p.Glu97Asp)
|
rs2151134743
|
|
NM_006772.3(SYNGAP1):c.2924C>A (p.Thr975Asn)
|
rs747272398
|
|
NM_006772.3(SYNGAP1):c.2924C>G (p.Thr975Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2924C>T (p.Thr975Ile)
|
|
|
NM_006772.3(SYNGAP1):c.2928T>G (p.Phe976Leu)
|
rs1561789482
|
|
NM_006772.3(SYNGAP1):c.2932C>T (p.Pro978Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2935T>C (p.Phe979Leu)
|
rs1761107036
|
|
NM_006772.3(SYNGAP1):c.2945A>G (p.Tyr982Cys)
|
rs2151189482
|
|
NM_006772.3(SYNGAP1):c.2946T>A (p.Tyr982Ter)
|
|
|
NM_006772.3(SYNGAP1):c.2948G>A (p.Ser983Asn)
|
rs1554122267
|
|
NM_006772.3(SYNGAP1):c.295+1551G>A
|
rs2151138610
|
|
NM_006772.3(SYNGAP1):c.295+19C>A
|
|
|
NM_006772.3(SYNGAP1):c.295+4C>T
|
|
|
NM_006772.3(SYNGAP1):c.295+7C>T
|
|
|
NM_006772.3(SYNGAP1):c.2954G>A (p.Ser985Asn)
|
|
|
NM_006772.3(SYNGAP1):c.2955T>C (p.Ser985=)
|
rs1240404975
|
|
NM_006772.3(SYNGAP1):c.2955_2958del (p.Ser985fs)
|
|
|
NM_006772.3(SYNGAP1):c.296-11C>G
|
|
|
NM_006772.3(SYNGAP1):c.296-17C>T
|
|
|
NM_006772.3(SYNGAP1):c.296-4C>T
|
rs909586569
|
|
NM_006772.3(SYNGAP1):c.296-6C>T
|
rs2151151755
|
|
NM_006772.3(SYNGAP1):c.2960A>G (p.Asp987Gly)
|
rs2151189518
|
|
NM_006772.3(SYNGAP1):c.2961C>T (p.Asp987=)
|
|
|
NM_006772.3(SYNGAP1):c.2962C>T (p.Leu988Phe)
|
rs1761107702
|
|
NM_006772.3(SYNGAP1):c.2970del (p.Val992fs)
|
|
|
NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg)
|
rs145472959
|
|
NM_006772.3(SYNGAP1):c.2974del (p.Val992fs)
|
rs1761108186
|
|
NM_006772.3(SYNGAP1):c.2976C>G (p.Val992=)
|
|
|
NM_006772.3(SYNGAP1):c.2979C>T (p.Pro993=)
|
rs2151189594
|
|
NM_006772.3(SYNGAP1):c.2979dup (p.Lys994fs)
|
rs1554122276
|
|
NM_006772.3(SYNGAP1):c.2982del (p.Lys994fs)
|
|
|
NM_006772.3(SYNGAP1):c.2983C>T (p.Pro995Ser)
|
rs1554122279
|
|
NM_006772.3(SYNGAP1):c.2987C>G (p.Pro996Arg)
|
|
|
NM_006772.3(SYNGAP1):c.2989G>A (p.Ala997Thr)
|
|
|
NM_006772.3(SYNGAP1):c.2991T>C (p.Ala997=)
|
|
|
NM_006772.3(SYNGAP1):c.2998A>G (p.Ile1000Val)
|
|
|
NM_006772.3(SYNGAP1):c.29G>A (p.Arg10Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3002T>C (p.Leu1001Pro)
|
|
|
NM_006772.3(SYNGAP1):c.3009C>G (p.Ser1003Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3020G>A (p.Ser1007Asn)
|
|
|
NM_006772.3(SYNGAP1):c.3023A>G (p.Asp1008Gly)
|
|
|
NM_006772.3(SYNGAP1):c.3025G>T (p.Glu1009Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3026A>C (p.Glu1009Ala)
|
|
|
NM_006772.3(SYNGAP1):c.3036del (p.Ser1013fs)
|
rs1554122289
|
|
NM_006772.3(SYNGAP1):c.3041G>T (p.Gly1014Val)
|
rs1581996568
|
|
NM_006772.3(SYNGAP1):c.3045dup (p.Asp1016Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3049T>C (p.Phe1017Leu)
|
|
|
NM_006772.3(SYNGAP1):c.304T>G (p.Leu102Val)
|
|
|
NM_006772.3(SYNGAP1):c.3053C>T (p.Thr1018Ile)
|
|
|
NM_006772.3(SYNGAP1):c.3055del (p.Arg1019fs)
|
|
|
NM_006772.3(SYNGAP1):c.3056G>T (p.Arg1019Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3057T>G (p.Arg1019=)
|
|
|
NM_006772.3(SYNGAP1):c.3059G>C (p.Arg1020Pro)
|
|
|
NM_006772.3(SYNGAP1):c.3059G>T (p.Arg1020Leu)
|
rs1210998685
|
|
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.3075G>A (p.Gln1025=)
|
rs1269883967
|
|
NM_006772.3(SYNGAP1):c.3078del (p.Asp1026fs)
|
rs2151189924
|
|
NM_006772.3(SYNGAP1):c.3090C>T (p.His1030=)
|
|
|
NM_006772.3(SYNGAP1):c.3092T>C (p.Met1031Thr)
|
rs1554122297
|
|
NM_006772.3(SYNGAP1):c.3100C>G (p.Pro1034Ala)
|
|
|
NM_006772.3(SYNGAP1):c.3103C>A (p.Pro1035Thr)
|
|
|
NM_006772.3(SYNGAP1):c.3111C>T (p.Ile1037=)
|
|
|
NM_006772.3(SYNGAP1):c.3116T>C (p.Ile1039Thr)
|
|
|
NM_006772.3(SYNGAP1):c.3119G>T (p.Gly1040Val)
|
rs1761112588
|
|
NM_006772.3(SYNGAP1):c.311G>T (p.Arg104Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser)
|
rs1561789701
|
|
NM_006772.3(SYNGAP1):c.3123C>A (p.Pro1041=)
|
|
|
NM_006772.3(SYNGAP1):c.3124C>T (p.Gln1042Ter)
|
rs1554122305
|
|
NM_006772.3(SYNGAP1):c.3125A>G (p.Gln1042Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3125_3138del (p.Gln1042fs)
|
|
|
NM_006772.3(SYNGAP1):c.312_315dup (p.Arg106fs)
|
|
|
NM_006772.3(SYNGAP1):c.3132A>T (p.Pro1044=)
|
|
|
NM_006772.3(SYNGAP1):c.3133_3134insGAGGTGGCCCAGAGGCCAGATCACCATTGGT (p.Ala1045fs)
|
|
|
NM_006772.3(SYNGAP1):c.3133del (p.Ala1045fs)
|
rs2151190116
|
|
NM_006772.3(SYNGAP1):c.3135C>T (p.Ala1045=)
|
rs1242622464
|
|
NM_006772.3(SYNGAP1):c.3136C>G (p.Pro1046Ala)
|
|
|
NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs)
|
rs2151190135
|
|
NM_006772.3(SYNGAP1):c.3138dup (p.Ser1047fs)
|
|
|
NM_006772.3(SYNGAP1):c.313T>C (p.Ser105Pro)
|
|
|
NM_006772.3(SYNGAP1):c.3141_3142del (p.Gly1048fs)
|
rs2151190159
|
|
NM_006772.3(SYNGAP1):c.3142G>C (p.Gly1048Arg)
|
|
|
NM_006772.3(SYNGAP1):c.314C>T (p.Ser105Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3151G>T (p.Gly1051Cys)
|
rs1761113561
|
|
NM_006772.3(SYNGAP1):c.3152G>A (p.Gly1051Asp)
|
|
|
NM_006772.3(SYNGAP1):c.3154G>A (p.Gly1052Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3156_3167del (p.1053SGGG[1])
|
rs1321244643
|
|
NM_006772.3(SYNGAP1):c.3156_3167dup (p.1053SGGG[3])
|
rs1321244643
|
|
NM_006772.3(SYNGAP1):c.3159C>T (p.Ser1053=)
|
|
|
NM_006772.3(SYNGAP1):c.315G>C (p.Ser105=)
|
|
|
NM_006772.3(SYNGAP1):c.315G>T (p.Ser105=)
|
rs757448236
|
|
NM_006772.3(SYNGAP1):c.3161G>A (p.Gly1054Asp)
|
|
|
NM_006772.3(SYNGAP1):c.3162T>G (p.Gly1054=)
|
|
|
NM_006772.3(SYNGAP1):c.3167_3188dup (p.Pro1065fs)
|
rs1581996778
|
|
NM_006772.3(SYNGAP1):c.3167dup (p.Ser1057fs)
|
|
|
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.3170G>A (p.Ser1057Asn)
|
|
|
NM_006772.3(SYNGAP1):c.3174T>G (p.Gly1058=)
|
rs1485118493
|
|
NM_006772.3(SYNGAP1):c.3178G>A (p.Gly1060Ser)
|
rs766124746
|
|
NM_006772.3(SYNGAP1):c.3179del (p.Gly1060fs)
|
rs1581996813
|
|
NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs)
|
|
|
NM_006772.3(SYNGAP1):c.3180T>G (p.Gly1060=)
|
|
|
NM_006772.3(SYNGAP1):c.3181G>A (p.Gly1061Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3183C>G (p.Gly1061=)
|
rs759449351
|
|
NM_006772.3(SYNGAP1):c.3184G>A (p.Gly1062Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3188dup (p.Gln1064fs)
|
|
|
NM_006772.3(SYNGAP1):c.3190C>T (p.Gln1064Ter)
|
rs1135401805
|
|
NM_006772.3(SYNGAP1):c.3192G>C (p.Gln1064His)
|
|
|
NM_006772.3(SYNGAP1):c.3194C>T (p.Pro1065Leu)
|
rs1014180310
|
|
NM_006772.3(SYNGAP1):c.3196C>T (p.Pro1066Ser)
|
rs2151190466
|
|
NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs)
|
rs1057518796
|
|
NM_006772.3(SYNGAP1):c.3202T>C (p.Leu1068=)
|
|
|
NM_006772.3(SYNGAP1):c.3209G>A (p.Arg1070Lys)
|
rs1561789828
|
|
NM_006772.3(SYNGAP1):c.3209_3210delinsCA (p.Arg1070Thr)
|
|
|
NM_006772.3(SYNGAP1):c.3213del (p.Lys1072fs)
|
|
|
NM_006772.3(SYNGAP1):c.3223C>A (p.Gln1075Lys)
|
|
|
NM_006772.3(SYNGAP1):c.3226T>C (p.Leu1076=)
|
rs756330466
|
|
NM_006772.3(SYNGAP1):c.3227del (p.Gln1075_Leu1076insTer)
|
rs1064796033
|
|
NM_006772.3(SYNGAP1):c.3231A>G (p.Thr1077=)
|
|
|
NM_006772.3(SYNGAP1):c.3233T>A (p.Val1078Asp)
|
|
|
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.3237C>A (p.Ser1079Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3237C>G (p.Ser1079Arg)
|
rs149779350
|
|
NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr)
|
rs1200128322
|
|
NM_006772.3(SYNGAP1):c.3238G>T (p.Ala1080Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3244C>T (p.Gln1082Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3246delinsAA (p.Pro1084fs)
|
rs1554122348
|
|
NM_006772.3(SYNGAP1):c.3250C>G (p.Pro1084Ala)
|
|
|
NM_006772.3(SYNGAP1):c.3251C>A (p.Pro1084His)
|
|
|
NM_006772.3(SYNGAP1):c.3254G>A (p.Arg1085Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3255G>A (p.Arg1085=)
|
rs769113190
|
|
NM_006772.3(SYNGAP1):c.3260C>T (p.Ser1087Phe)
|
|
|
NM_006772.3(SYNGAP1):c.3262A>G (p.Ser1088Gly)
|
|
|
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.3287A>C (p.Glu1096Ala)
|
|
|
NM_006772.3(SYNGAP1):c.3290C>T (p.Pro1097Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3293G>A (p.Ser1098Asn)
|
rs1761118961
|
|
NM_006772.3(SYNGAP1):c.3294T>C (p.Ser1098=)
|
rs2151190779
|
|
NM_006772.3(SYNGAP1):c.3300C>T (p.Gly1100=)
|
|
|
NM_006772.3(SYNGAP1):c.3303del (p.Ala1102fs)
|
rs2151190809
|
|
NM_006772.3(SYNGAP1):c.3304G>C (p.Ala1102Pro)
|
|
|
NM_006772.3(SYNGAP1):c.3305C>T (p.Ala1102Val)
|
|
|
NM_006772.3(SYNGAP1):c.3306C>G (p.Ala1102=)
|
rs1761119422
|
|
NM_006772.3(SYNGAP1):c.3307C>T (p.Arg1103Cys)
|
|
|
NM_006772.3(SYNGAP1):c.3308G>T (p.Arg1103Leu)
|
rs764952741
|
|
NM_006772.3(SYNGAP1):c.3309T>G (p.Arg1103=)
|
|
|
NM_006772.3(SYNGAP1):c.3310C>T (p.Pro1104Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3312A>C (p.Pro1104=)
|
|
|
NM_006772.3(SYNGAP1):c.3313C>T (p.Arg1105Trp)
|
|
|
NM_006772.3(SYNGAP1):c.3314G>A (p.Arg1105Gln)
|
|
|
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.3323G>T (p.Ser1108Ile)
|
|
|
NM_006772.3(SYNGAP1):c.3326T>C (p.Leu1109Pro)
|
|
|
NM_006772.3(SYNGAP1):c.3328A>G (p.Ser1110Gly)
|
|
|
NM_006772.3(SYNGAP1):c.3338G>A (p.Gly1113Asp)
|
|
|
NM_006772.3(SYNGAP1):c.333A>G (p.Pro111=)
|
rs2151151896
|
|
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)
|
rs1131691979
|
|
NM_006772.3(SYNGAP1):c.3343_3354del (p.Ile1115_Ser1118del)
|
rs1761120740
|
|
NM_006772.3(SYNGAP1):c.3343_3363del (p.Ile1115_Ser1121del)
|
rs2151190971
|
|
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.3348G>A (p.Gly1116=)
|
|
|
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[1] (p.1118SGG[1])
|
rs761763671
|
|
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[3] (p.1118SGG[3])
|
rs761763671
|
|
NM_006772.3(SYNGAP1):c.3351C>T (p.Gly1117=)
|
|
|
NM_006772.3(SYNGAP1):c.3354C>A (p.Ser1118Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3358_3359del (p.Gly1120fs)
|
|
|
NM_006772.3(SYNGAP1):c.3361A>G (p.Ser1121Gly)
|
|
|
NM_006772.3(SYNGAP1):c.3363C>T (p.Ser1121=)
|
rs1478769596
|
|
NM_006772.3(SYNGAP1):c.3363_3371del (p.Ser1121_Gly1124delinsArg)
|
|
|
NM_006772.3(SYNGAP1):c.3369_3380del (p.Gly1125_Gly1128del)
|
rs2151191080
|
|
NM_006772.3(SYNGAP1):c.3370G>T (p.Gly1124Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3372A>G (p.Gly1124=)
|
|
|
NM_006772.3(SYNGAP1):c.3376G>T (p.Gly1126Cys)
|
rs1554122390
|
|
NM_006772.3(SYNGAP1):c.3377G>A (p.Gly1126Asp)
|
|
|
NM_006772.3(SYNGAP1):c.3377G>T (p.Gly1126Val)
|
rs2151191157
|
|
NM_006772.3(SYNGAP1):c.3377del (p.Gly1126fs)
|
rs1581997228
|
|
NM_006772.3(SYNGAP1):c.3379G>A (p.Gly1127Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3379G>C (p.Gly1127Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3380G>T (p.Gly1127Val)
|
rs777482147
|
|
NM_006772.3(SYNGAP1):c.3384G>T (p.Gly1128=)
|
|
|
NM_006772.3(SYNGAP1):c.3384dup (p.Leu1129fs)
|
|
|
NM_006772.3(SYNGAP1):c.3386T>C (p.Leu1129Pro)
|
rs1581997279
|
|
NM_006772.3(SYNGAP1):c.3394T>C (p.Ser1132Pro)
|
rs2151191235
|
|
NM_006772.3(SYNGAP1):c.3395C>A (p.Ser1132Tyr)
|
rs1761123592
|
|
NM_006772.3(SYNGAP1):c.339G>A (p.Gly113=)
|
rs1163363015
|
|
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.3404_3407del (p.Lys1135fs)
|
|
|
NM_006772.3(SYNGAP1):c.3405G>A (p.Lys1135=)
|
|
|
NM_006772.3(SYNGAP1):c.3405G>C (p.Lys1135Asn)
|
rs1561790136
|
|
NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter)
|
rs1554122400
|
|
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.3408+3A>G
|
|
|
NM_006772.3(SYNGAP1):c.3408+7G>A
|
|
|
NM_006772.3(SYNGAP1):c.3409-7G>A
|
|
|
NM_006772.3(SYNGAP1):c.3409-9T>C
|
|
|
NM_006772.3(SYNGAP1):c.3410A>C (p.His1137Pro)
|
|
|
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.3423A>C (p.Pro1141=)
|
|
|
NM_006772.3(SYNGAP1):c.3424T>C (p.Ser1142Pro)
|
|
|
NM_006772.3(SYNGAP1):c.3432_3433insCCAC (p.Asn1145fs)
|
|
|
NM_006772.3(SYNGAP1):c.3434A>G (p.Asn1145Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3442A>T (p.Met1148Leu)
|
rs765741734
|
|
NM_006772.3(SYNGAP1):c.3449C>T (p.Ala1150Val)
|
rs1561790495
|
|
NM_006772.3(SYNGAP1):c.3450C>T (p.Ala1150=)
|
|
|
NM_006772.3(SYNGAP1):c.3452_3453del (p.Ala1150_Ser1151insTer)
|
rs2151192910
|
|
NM_006772.3(SYNGAP1):c.3456G>A (p.Glu1152=)
|
rs2151192927
|
|
NM_006772.3(SYNGAP1):c.3471G>A (p.Trp1157Ter)
|
rs1064796403
|
|
NM_006772.3(SYNGAP1):c.3480C>T (p.Asn1160=)
|
|
|
NM_006772.3(SYNGAP1):c.3484C>T (p.Pro1162Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3487C>G (p.His1163Asp)
|
rs2151192993
|
|
NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu)
|
rs875989808
|
|
NM_006772.3(SYNGAP1):c.34_35del (p.Ser12fs)
|
rs1554304254
|
|
NM_006772.3(SYNGAP1):c.3502A>G (p.Ile1168Val)
|
rs1761140471
|
|
NM_006772.3(SYNGAP1):c.3505G>T (p.Glu1169Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3508A>G (p.Ser1170Gly)
|
rs1561790532
|
|
NM_006772.3(SYNGAP1):c.3508_3509del (p.Ser1170fs)
|
rs1581998105
|
|
NM_006772.3(SYNGAP1):c.3511G>A (p.Ala1171Thr)
|
|
|
NM_006772.3(SYNGAP1):c.3511_3512delinsTG (p.Ala1171Cys)
|
|
|
NM_006772.3(SYNGAP1):c.3516dup (p.Ile1173fs)
|
rs2151193070
|
|
NM_006772.3(SYNGAP1):c.3520G>A (p.Glu1174Lys)
|
|
|
NM_006772.3(SYNGAP1):c.3528A>G (p.Glu1176=)
|
|
|
NM_006772.3(SYNGAP1):c.3529G>A (p.Glu1177Lys)
|
rs1554122475
|
|
NM_006772.3(SYNGAP1):c.3534C>A (p.Tyr1178Ter)
|
rs2151193128
|
|
NM_006772.3(SYNGAP1):c.3535A>T (p.Lys1179Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3553A>T (p.Lys1185Ter)
|
rs1554122483
|
|
NM_006772.3(SYNGAP1):c.3555A>G (p.Lys1185=)
|
|
|
NM_006772.3(SYNGAP1):c.3557C>T (p.Ser1186Leu)
|
rs1554122485
|
|
NM_006772.3(SYNGAP1):c.355dup (p.Glu119fs)
|
rs1554120489
|
|
NM_006772.3(SYNGAP1):c.3567G>C (p.Glu1189Asp)
|
rs1761142201
|
|
NM_006772.3(SYNGAP1):c.3574C>G (p.Leu1192Val)
|
|
|
NM_006772.3(SYNGAP1):c.3582+11C>A
|
|
|
NM_006772.3(SYNGAP1):c.3582+11C>T
|
rs2151193305
|
|
NM_006772.3(SYNGAP1):c.3582+12T>C
|
|
|
NM_006772.3(SYNGAP1):c.3582+13C>T
|
|
|
NM_006772.3(SYNGAP1):c.3582+3A>T
|
rs2151193232
|
|
NM_006772.3(SYNGAP1):c.3582+5G>A
|
rs1323082596
|
|
NM_006772.3(SYNGAP1):c.3582+7T>G
|
rs370618729
|
|
NM_006772.3(SYNGAP1):c.3582G>A (p.Arg1194=)
|
|
|
NM_006772.3(SYNGAP1):c.3583-10C>T
|
|
|
NM_006772.3(SYNGAP1):c.3583-12C>T
|
|
|
NM_006772.3(SYNGAP1):c.3583-17G>A
|
rs768465867
|
|
NM_006772.3(SYNGAP1):c.3583-20G>T
|
|
|
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.3594C>G (p.Tyr1198Ter)
|
rs1007979214
|
|
NM_006772.3(SYNGAP1):c.3595G>A (p.Glu1199Lys)
|
rs776835472
|
|
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.3607C>G (p.His1203Asp)
|
rs1430136718
|
|
NM_006772.3(SYNGAP1):c.3607C>T (p.His1203Tyr)
|
|
|
NM_006772.3(SYNGAP1):c.360T>G (p.Gly120=)
|
|
|
NM_006772.3(SYNGAP1):c.3614T>C (p.Leu1205Pro)
|
|
|
NM_006772.3(SYNGAP1):c.3631A>G (p.Met1211Val)
|
|
|
NM_006772.3(SYNGAP1):c.3632T>A (p.Met1211Lys)
|
rs1761209223
|
|
NM_006772.3(SYNGAP1):c.3632del (p.Met1211fs)
|
rs2151199347
|
|
NM_006772.3(SYNGAP1):c.3633G>A (p.Met1211Ile)
|
|
|
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe)
|
rs1761209473
|
|
NM_006772.3(SYNGAP1):c.3638A>C (p.Asn1213Thr)
|
rs761582251
|
|
NM_006772.3(SYNGAP1):c.3638A>G (p.Asn1213Ser)
|
rs761582251
|
|
NM_006772.3(SYNGAP1):c.3640C>T (p.Arg1214Trp)
|
rs2151199384
|
|
NM_006772.3(SYNGAP1):c.3642del (p.Lys1215fs)
|
rs1554122710
|
|
NM_006772.3(SYNGAP1):c.3648G>C (p.Leu1216=)
|
rs1400502496
|
|
NM_006772.3(SYNGAP1):c.3653A>T (p.Glu1218Val)
|
rs1761210278
|
|
NM_006772.3(SYNGAP1):c.3655T>C (p.Tyr1219His)
|
|
|
NM_006772.3(SYNGAP1):c.3660G>A (p.Glu1220=)
|
rs2151199457
|
|
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp)
|
rs2151199464
|
|
NM_006772.3(SYNGAP1):c.3665_3669dup (p.Leu1224fs)
|
rs1761210688
|
|
NM_006772.3(SYNGAP1):c.3667C>T (p.Leu1223=)
|
|
|
NM_006772.3(SYNGAP1):c.366del (p.Ala123fs)
|
rs2151151998
|
|
NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs)
|
rs2151199493
|
|
NM_006772.3(SYNGAP1):c.3679del (p.Glu1227fs)
|
|
|
NM_006772.3(SYNGAP1):c.3681A>G (p.Glu1227=)
|
rs2151199514
|
|
NM_006772.3(SYNGAP1):c.3681del (p.Glu1228fs)
|
|
|
NM_006772.3(SYNGAP1):c.3685C>T (p.Gln1229Ter)
|
rs2151199529
|
|
NM_006772.3(SYNGAP1):c.3686A>C (p.Gln1229Pro)
|
rs2151199539
|
|
NM_006772.3(SYNGAP1):c.3690C>A (p.Thr1230=)
|
rs2151199552
|
|
NM_006772.3(SYNGAP1):c.36C>G (p.Ser12Arg)
|
|
|
NM_006772.3(SYNGAP1):c.36C>T (p.Ser12=)
|
rs1362587238
|
|
NM_006772.3(SYNGAP1):c.3705G>A (p.Met1235Ile)
|
|
|
NM_006772.3(SYNGAP1):c.3706C>T (p.Gln1236Ter)
|
rs1554122729
|
|
NM_006772.3(SYNGAP1):c.3711T>A (p.Tyr1237Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3714G>A (p.Gln1238=)
|
rs1350317629
|
|
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)
|
rs869312955
|
|
NM_006772.3(SYNGAP1):c.371C>T (p.Ala124Val)
|
rs776125498
|
|
NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs)
|
rs1554122735
|
|
NM_006772.3(SYNGAP1):c.3723G>A (p.Leu1241=)
|
rs2151199602
|
|
NM_006772.3(SYNGAP1):c.3726G>A (p.Glu1242=)
|
|
|
NM_006772.3(SYNGAP1):c.3731G>A (p.Ser1244Asn)
|
rs1761212138
|
|
NM_006772.3(SYNGAP1):c.3732_3735del (p.Ser1244fs)
|
rs1761212075
|
|
NM_006772.3(SYNGAP1):c.3738G>A (p.Lys1246=)
|
|
|
NM_006772.3(SYNGAP1):c.373C>T (p.Pro125Ser)
|
rs1287359701
|
|
NM_006772.3(SYNGAP1):c.3751C>T (p.Gln1251Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3754C>T (p.Gln1252Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3756G>A (p.Gln1252=)
|
|
|
NM_006772.3(SYNGAP1):c.3771C>A (p.Ser1257=)
|
rs1207365456
|
|
NM_006772.3(SYNGAP1):c.3773A>G (p.Gln1258Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3788T>C (p.Ile1263Thr)
|
rs1451330589
|
|
NM_006772.3(SYNGAP1):c.3788_3794del (p.Ile1263fs)
|
rs869312677
|
|
NM_006772.3(SYNGAP1):c.3793A>C (p.Arg1265=)
|
|
|
NM_006772.3(SYNGAP1):c.3794+19dup
|
rs1454267782
|
|
NM_006772.3(SYNGAP1):c.3794+1G>A
|
|
|
NM_006772.3(SYNGAP1):c.3794+2T>C
|
rs1395368098
|
|
NM_006772.3(SYNGAP1):c.3794+3G>A
|
|
|
NM_006772.3(SYNGAP1):c.3794+63T>C
|
rs3119027
|
|
NM_006772.3(SYNGAP1):c.3794+74G>T
|
rs3119019
|
|
NM_006772.3(SYNGAP1):c.3794+7G>A
|
|
|
NM_006772.3(SYNGAP1):c.3794G>C (p.Arg1265Thr)
|
rs1554122763
|
|
NM_006772.3(SYNGAP1):c.3795-10G>C
|
|
|
NM_006772.3(SYNGAP1):c.3795-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.3795-1G>C
|
rs1761241410
|
|
NM_006772.3(SYNGAP1):c.3795-7C>G
|
rs1761241320
|
|
NM_006772.3(SYNGAP1):c.37A>G (p.Ile13Val)
|
|
|
NM_006772.3(SYNGAP1):c.3802C>T (p.Leu1268=)
|
|
|
NM_006772.3(SYNGAP1):c.3806T>A (p.Val1269Glu)
|
rs1554122884
|
|
NM_006772.3(SYNGAP1):c.380G>A (p.Arg127Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3811G>T (p.Glu1271Ter)
|
rs1554122888
|
|
NM_006772.3(SYNGAP1):c.3817C>T (p.Leu1273=)
|
|
|
NM_006772.3(SYNGAP1):c.381G>A (p.Arg127=)
|
|
|
NM_006772.3(SYNGAP1):c.3820C>T (p.Arg1274Cys)
|
rs1060503385
|
|
NM_006772.3(SYNGAP1):c.3821G>A (p.Arg1274His)
|
|
|
NM_006772.3(SYNGAP1):c.3824G>A (p.Arg1275Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3824G>T (p.Arg1275Leu)
|
rs1057520146
|
|
NM_006772.3(SYNGAP1):c.382C>A (p.Pro128Thr)
|
|
|
NM_006772.3(SYNGAP1):c.3834dup (p.Ala1279fs)
|
rs2151202533
|
|
NM_006772.3(SYNGAP1):c.3835G>A (p.Ala1279Thr)
|
rs1165427519
|
|
NM_006772.3(SYNGAP1):c.3846G>C (p.Glu1282Asp)
|
rs1284299637
|
|
NM_006772.3(SYNGAP1):c.384dup (p.Ser129fs)
|
rs1554120498
|
|
NM_006772.3(SYNGAP1):c.3859C>A (p.Pro1287Thr)
|
|
|
NM_006772.3(SYNGAP1):c.3860C>T (p.Pro1287Leu)
|
rs1374327029
|
|
NM_006772.3(SYNGAP1):c.3862A>G (p.Lys1288Glu)
|
|
|
NM_006772.3(SYNGAP1):c.3863AGA[1] (p.Lys1289del)
|
|
|
NM_006772.3(SYNGAP1):c.3864G>A (p.Lys1288=)
|
|
|
NM_006772.3(SYNGAP1):c.387+12C>T
|
|
|
NM_006772.3(SYNGAP1):c.387+14del
|
|
|
NM_006772.3(SYNGAP1):c.387+1G>A
|
rs1777175608
|
|
NM_006772.3(SYNGAP1):c.387+3G>T
|
|
|
NM_006772.3(SYNGAP1):c.387+44C>A
|
rs200171707
|
|
NM_006772.3(SYNGAP1):c.387+8G>A
|
|
|
NM_006772.3(SYNGAP1):c.387+8G>T
|
rs1479546732
|
|
NM_006772.3(SYNGAP1):c.3871C>T (p.Leu1291=)
|
rs2151202605
|
|
NM_006772.3(SYNGAP1):c.3876C>T (p.Leu1292=)
|
|
|
NM_006772.3(SYNGAP1):c.3879C>T (p.Asp1293=)
|
rs1340445648
|
|
NM_006772.3(SYNGAP1):c.387G>A (p.Ser129=)
|
rs767126748
|
|
NM_006772.3(SYNGAP1):c.388-11T>G
|
|
|
NM_006772.3(SYNGAP1):c.388-13A>G
|
|
|
NM_006772.3(SYNGAP1):c.388-18T>A
|
|
|
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.388-2A>G
|
rs797045012
|
|
NM_006772.3(SYNGAP1):c.388-2del
|
|
|
NM_006772.3(SYNGAP1):c.388-30dup
|
rs1255453970
|
|
NM_006772.3(SYNGAP1):c.388-3C>G
|
rs1448169616
|
|
NM_006772.3(SYNGAP1):c.388-3dup
|
rs771107621
|
|
NM_006772.3(SYNGAP1):c.388-4C>A
|
|
|
NM_006772.3(SYNGAP1):c.3885+8T>C
|
|
|
NM_006772.3(SYNGAP1):c.3886-7C>G
|
|
|
NM_006772.3(SYNGAP1):c.388C>T (p.Gln130Ter)
|
rs1175416158
|
|
NM_006772.3(SYNGAP1):c.3900C>A (p.Pro1300=)
|
rs1561793756
|
|
NM_006772.3(SYNGAP1):c.3902C>A (p.Pro1301His)
|
rs199694815
|
|
NM_006772.3(SYNGAP1):c.3902C>G (p.Pro1301Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3903C>A (p.Pro1301=)
|
|
|
NM_006772.3(SYNGAP1):c.3903dup (p.Pro1304fs)
|
rs1761346213
|
|
NM_006772.3(SYNGAP1):c.3906G>C (p.Leu1302Phe)
|
|
|
NM_006772.3(SYNGAP1):c.3907G>A (p.Gly1303Ser)
|
|
|
NM_006772.3(SYNGAP1):c.391G>C (p.Gly131Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3920C>A (p.Pro1307Gln)
|
rs1175644186
|
|
NM_006772.3(SYNGAP1):c.3920C>T (p.Pro1307Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3923G>A (p.Arg1308His)
|
|
|
NM_006772.3(SYNGAP1):c.3929C>T (p.Thr1310Met)
|
|
|
NM_006772.3(SYNGAP1):c.3930G>A (p.Thr1310=)
|
rs865783045
|
|
NM_006772.3(SYNGAP1):c.3931C>T (p.Leu1311=)
|
|
|
NM_006772.3(SYNGAP1):c.3932T>C (p.Leu1311Pro)
|
rs1761347213
|
|
NM_006772.3(SYNGAP1):c.3936C>T (p.Ala1312=)
|
rs774453156
|
|
NM_006772.3(SYNGAP1):c.3941C>T (p.Pro1314Leu)
|
rs1369846705
|
|
NM_006772.3(SYNGAP1):c.3943T>C (p.Trp1315Arg)
|
rs1761347666
|
|
NM_006772.3(SYNGAP1):c.3949G>A (p.Gly1317Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3956C>G (p.Ala1319Gly)
|
rs1761348204
|
|
NM_006772.3(SYNGAP1):c.3957C>A (p.Ala1319=)
|
rs773538561
|
|
NM_006772.3(SYNGAP1):c.3957C>G (p.Ala1319=)
|
rs773538561
|
|
NM_006772.3(SYNGAP1):c.3957C>T (p.Ala1319=)
|
|
|
NM_006772.3(SYNGAP1):c.3958C>T (p.Pro1320Ser)
|
rs1554123292
|
|
NM_006772.3(SYNGAP1):c.3961C>T (p.Pro1321Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3962C>A (p.Pro1321Gln)
|
rs1761348954
|
|
NM_006772.3(SYNGAP1):c.3962dup (p.Ala1322fs)
|
|
|
NM_006772.3(SYNGAP1):c.3963A>C (p.Pro1321=)
|
rs764754365
|
|
NM_006772.3(SYNGAP1):c.3963A>G (p.Pro1321=)
|
rs764754365
|
|
NM_006772.3(SYNGAP1):c.3963_3964del (p.Ala1322fs)
|
|
|
NM_006772.3(SYNGAP1):c.3964G>C (p.Ala1322Pro)
|
rs752321873
|
|
NM_006772.3(SYNGAP1):c.3966C>T (p.Ala1322=)
|
|
|
NM_006772.3(SYNGAP1):c.3968_3969insCCCCC (p.Pro1325fs)
|
|
|
NM_006772.3(SYNGAP1):c.3969A>C (p.Pro1323=)
|
rs764031180
|
|
NM_006772.3(SYNGAP1):c.3970C>T (p.Pro1324Ser)
|
rs2151214061
|
|
NM_006772.3(SYNGAP1):c.3972A>C (p.Pro1324=)
|
rs751387116
|
|
NM_006772.3(SYNGAP1):c.3974C>T (p.Pro1325Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3977C>A (p.Pro1326Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3977C>G (p.Pro1326Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3977C>T (p.Pro1326Leu)
|
rs781281192
|
|
NM_006772.3(SYNGAP1):c.3978A>C (p.Pro1326=)
|
rs745764103
|
|
NM_006772.3(SYNGAP1):c.3979C>T (p.Pro1327Ser)
|
rs1582006629
|
|
NM_006772.3(SYNGAP1):c.3980C>T (p.Pro1327Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3983G>A (p.Arg1328Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3983G>C (p.Arg1328Pro)
|
rs767447413
|
|
NM_006772.3(SYNGAP1):c.3996G>A (p.Thr1332=)
|
|
|
NM_006772.3(SYNGAP1):c.3996G>T (p.Thr1332=)
|
|
|
NM_006772.3(SYNGAP1):c.3999_4000delinsAG (p.Asn1334Asp)
|
|
|
NM_006772.3(SYNGAP1):c.3G>A (p.Met1Ile)
|
rs1292609217
|
|
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser)
|
rs1761351808
|
|
NM_006772.3(SYNGAP1):c.4005C>T (p.Gly1335=)
|
rs1561794001
|
|
NM_006772.3(SYNGAP1):c.4006G>T (p.Glu1336Ter)
|
|
|
NM_006772.3(SYNGAP1):c.4008G>A (p.Glu1336=)
|
|
|
NM_006772.3(SYNGAP1):c.4008G>C (p.Glu1336Asp)
|
|
|
NM_006772.3(SYNGAP1):c.401G>A (p.Ser134Asn)
|
|
|
NM_006772.3(SYNGAP1):c.4020C>T (p.Thr1340=)
|
|
|
NM_006772.3(SYNGAP1):c.4021G>T (p.Ala1341Ser)
|
|
|
NM_006772.3(SYNGAP1):c.4023A>G (p.Ala1341=)
|
|
|
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
|
rs1131692154
|
|
NM_006772.3(SYNGAP1):c.404G>A (p.Arg135Gln)
|
|
|
NM_006772.3(SYNGAP1):c.404_410del (p.Arg135fs)
|
|
|
NM_006772.3(SYNGAP1):c.406C>T (p.Arg136Trp)
|
rs1777195467
|
|
NM_006772.3(SYNGAP1):c.407G>C (p.Arg136Pro)
|
rs759426721
|
|
NM_006772.3(SYNGAP1):c.410del (p.Leu137fs)
|
rs1581980317
|
|
NM_006772.3(SYNGAP1):c.411A>T (p.Leu137=)
|
|
|
NM_006772.3(SYNGAP1):c.412A>T (p.Lys138Ter)
|
rs121918315
|
|
NM_006772.3(SYNGAP1):c.416G>A (p.Ser139Asn)
|
|
|
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter)
|
rs397514741
|
|
NM_006772.3(SYNGAP1):c.42C>T (p.Pro14=)
|
|
|
NM_006772.3(SYNGAP1):c.431C>T (p.Thr144Met)
|
|
|
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.43G>A (p.Ala15Thr)
|
|
|
NM_006772.3(SYNGAP1):c.43G>C (p.Ala15Pro)
|
|
|
NM_006772.3(SYNGAP1):c.43del (p.Ala15fs)
|
rs1554304258
|
|
NM_006772.3(SYNGAP1):c.444C>T (p.Pro148=)
|
|
|
NM_006772.3(SYNGAP1):c.44C>T (p.Ala15Val)
|
|
|
NM_006772.3(SYNGAP1):c.451G>C (p.Asp151His)
|
|
|
NM_006772.3(SYNGAP1):c.453C>A (p.Asp151Glu)
|
|
|
NM_006772.3(SYNGAP1):c.455G>A (p.Arg152Gln)
|
|
|
NM_006772.3(SYNGAP1):c.457del (p.Thr153fs)
|
|
|
NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn)
|
rs998489108
|
|
NM_006772.3(SYNGAP1):c.45G>A (p.Ala15=)
|
rs1554304262
|
|
NM_006772.3(SYNGAP1):c.45G>C (p.Ala15=)
|
|
|
NM_006772.3(SYNGAP1):c.467T>G (p.Phe156Cys)
|
|
|
NM_006772.3(SYNGAP1):c.467_479del (p.Phe156fs)
|
|
|
NM_006772.3(SYNGAP1):c.470G>A (p.Arg157His)
|
|
|
NM_006772.3(SYNGAP1):c.472C>T (p.Gln158Ter)
|
rs1085307871
|
|
NM_006772.3(SYNGAP1):c.478C>T (p.Leu160=)
|
|
|
NM_006772.3(SYNGAP1):c.478del (p.Leu160fs)
|
|
|
NM_006772.3(SYNGAP1):c.484C>G (p.Arg162Gly)
|
|
|
NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys)
|
rs1554120589
|
|
NM_006772.3(SYNGAP1):c.484_485insCT (p.Arg162fs)
|
|
|
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)
|
rs1057518352
|
|
NM_006772.3(SYNGAP1):c.491G>A (p.Arg164Gln)
|
|
|
NM_006772.3(SYNGAP1):c.498T>A (p.Ala166=)
|
|
|
NM_006772.3(SYNGAP1):c.502C>T (p.His168Tyr)
|
rs1777198561
|
|
NM_006772.3(SYNGAP1):c.505G>A (p.Asp169Asn)
|
rs1581980479
|
|
NM_006772.3(SYNGAP1):c.508C>T (p.Arg170Trp)
|
rs1777198713
|
|
NM_006772.3(SYNGAP1):c.509+14A>G
|
rs1039730054
|
|
NM_006772.3(SYNGAP1):c.509+1G>A
|
rs1561781989
|
|
NM_006772.3(SYNGAP1):c.509+1G>T
|
rs1561781989
|
|
NM_006772.3(SYNGAP1):c.509+5A>C
|
rs780314191
|
|
NM_006772.3(SYNGAP1):c.509+7G>T
|
|
|
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)
|
rs1057519546
|
|
NM_006772.3(SYNGAP1):c.50C>T (p.Ser17Phe)
|
|
|
NM_006772.3(SYNGAP1):c.510-199dup
|
rs373773732
|
|
NM_006772.3(SYNGAP1):c.510-1G>A
|
rs2151161019
|
|
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.510-2A>G
|
rs1554120894
|
|
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.510-5G>A
|
rs1581983723
|
|
NM_006772.3(SYNGAP1):c.514C>A (p.Arg172=)
|
|
|
NM_006772.3(SYNGAP1):c.519G>A (p.Leu173=)
|
rs746494569
|
|
NM_006772.3(SYNGAP1):c.51C>T (p.Ser17=)
|
rs1776745615
|
|
NM_006772.3(SYNGAP1):c.526A>C (p.Ser176Arg)
|
|
|
NM_006772.3(SYNGAP1):c.526A>G (p.Ser176Gly)
|
|
|
NM_006772.3(SYNGAP1):c.531_532del (p.Phe177fs)
|
|
|
NM_006772.3(SYNGAP1):c.535del (p.Glu179fs)
|
rs786205649
|
|
NM_006772.3(SYNGAP1):c.537G>A (p.Glu179=)
|
rs1209774912
|
|
NM_006772.3(SYNGAP1):c.539dup (p.His181fs)
|
rs1561783309
|
|
NM_006772.3(SYNGAP1):c.53A>G (p.Tyr18Cys)
|
|
|
NM_006772.3(SYNGAP1):c.555C>T (p.Ser185=)
|
rs1581983817
|
|
NM_006772.3(SYNGAP1):c.556T>C (p.Leu186=)
|
rs2151161145
|
|
NM_006772.3(SYNGAP1):c.558G>C (p.Leu186Phe)
|
|
|
NM_006772.3(SYNGAP1):c.573T>C (p.Ser191=)
|
rs1581983832
|
|
NM_006772.3(SYNGAP1):c.57C>T (p.Ala19=)
|
rs1411216735
|
|
NM_006772.3(SYNGAP1):c.583G>C (p.Ala195Pro)
|
rs1057519545
|
|
NM_006772.3(SYNGAP1):c.585A>G (p.Ala195=)
|
rs2151161190
|
|
NM_006772.3(SYNGAP1):c.597C>A (p.Asn199Lys)
|
|
|
NM_006772.3(SYNGAP1):c.598T>C (p.Leu200=)
|
|
|
NM_006772.3(SYNGAP1):c.59C>G (p.Pro20Arg)
|
rs1562867414
|
|
NM_006772.3(SYNGAP1):c.59C>T (p.Pro20Leu)
|
rs1562867414
|
|
NM_006772.3(SYNGAP1):c.600G>C (p.Leu200Phe)
|
rs1777298292
|
|
NM_006772.3(SYNGAP1):c.603T>A (p.Asp201Glu)
|
|
|
NM_006772.3(SYNGAP1):c.604del (p.Glu202fs)
|
|
|
NM_006772.3(SYNGAP1):c.611C>G (p.Ser204Cys)
|
rs2151161251
|
|
NM_006772.3(SYNGAP1):c.628_631dup (p.Ser211fs)
|
rs1554120939
|
|
NM_006772.3(SYNGAP1):c.629_632dup (p.Ser211fs)
|
|
|
NM_006772.3(SYNGAP1):c.630C>T (p.His210=)
|
rs2151161279
|
|
NM_006772.3(SYNGAP1):c.645C>G (p.Gly215=)
|
rs2151161285
|
|
NM_006772.3(SYNGAP1):c.646C>T (p.Gln216Ter)
|
rs1554120941
|
|
NM_006772.3(SYNGAP1):c.654C>T (p.Phe218=)
|
rs542048435
|
|
NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs)
|
rs1777299176
|
|
NM_006772.3(SYNGAP1):c.660T>C (p.Phe220=)
|
|
|
NM_006772.3(SYNGAP1):c.662A>T (p.Glu221Val)
|
|
|
NM_006772.3(SYNGAP1):c.663+10C>G
|
|
|
NM_006772.3(SYNGAP1):c.663+19T>C
|
|
|
NM_006772.3(SYNGAP1):c.663+1G>A
|
rs1064797322
|
|
NM_006772.3(SYNGAP1):c.663+1G>T
|
rs1064797322
|
|
NM_006772.3(SYNGAP1):c.663+4C>G
|
|
|
NM_006772.3(SYNGAP1):c.663+8G>C
|
|
|
NM_006772.3(SYNGAP1):c.664-12A>G
|
|
|
NM_006772.3(SYNGAP1):c.664-14_664-11del
|
|
|
NM_006772.3(SYNGAP1):c.664-4C>T
|
|
|
NM_006772.3(SYNGAP1):c.664-5T>C
|
rs759615054
|
|
NM_006772.3(SYNGAP1):c.667A>G (p.Thr223Ala)
|
rs1435943982
|
|
NM_006772.3(SYNGAP1):c.667A>T (p.Thr223Ser)
|
rs1435943982
|
|
NM_006772.3(SYNGAP1):c.67+10G>A
|
|
|
NM_006772.3(SYNGAP1):c.67+13G>A
|
|
|
NM_006772.3(SYNGAP1):c.67+15G>A
|
|
|
NM_006772.3(SYNGAP1):c.67+15del
|
rs753367470
|
|
NM_006772.3(SYNGAP1):c.67+16A>T
|
rs1581965137
|
|
NM_006772.3(SYNGAP1):c.67+1G>T
|
|
|
NM_006772.3(SYNGAP1):c.67+3A>C
|
|
|
NM_006772.3(SYNGAP1):c.67+5G>A
|
|
|
NM_006772.3(SYNGAP1):c.67+9T>G
|
rs1189746637
|
|
NM_006772.3(SYNGAP1):c.67+9dup
|
|
|
NM_006772.3(SYNGAP1):c.670A>G (p.Thr224Ala)
|
rs1777305165
|
|
NM_006772.3(SYNGAP1):c.68-15G>A
|
|
|
NM_006772.3(SYNGAP1):c.68-19G>T
|
rs373214421
|
|
NM_006772.3(SYNGAP1):c.68-1G>A
|
rs1562869207
|
|
NM_006772.3(SYNGAP1):c.68-3C>T
|
|
|
NM_006772.3(SYNGAP1):c.680dup (p.Thr228fs)
|
|
|
NM_006772.3(SYNGAP1):c.684A>T (p.Thr228=)
|
rs2151161890
|
|
NM_006772.3(SYNGAP1):c.68A>G (p.Asp23Gly)
|
|
|
NM_006772.3(SYNGAP1):c.690C>T (p.Cys230=)
|
|
|
NM_006772.3(SYNGAP1):c.692_693dup (p.Ala232fs)
|
|
|
NM_006772.3(SYNGAP1):c.694G>A (p.Ala232Thr)
|
rs756789403
|
|
NM_006772.3(SYNGAP1):c.698_699dup (p.Arg234fs)
|
rs1554120966
|
|
NM_006772.3(SYNGAP1):c.700C>T (p.Arg234Trp)
|
rs1777306036
|
|
NM_006772.3(SYNGAP1):c.702G>A (p.Arg234=)
|
|
|
NM_006772.3(SYNGAP1):c.703T>C (p.Ser235Pro)
|
rs2151161955
|
|
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.708G>T (p.Ala236=)
|
rs745547755
|
|
NM_006772.3(SYNGAP1):c.70G>A (p.Val24Ile)
|
|
|
NM_006772.3(SYNGAP1):c.711C>T (p.Ala237=)
|
|
|
NM_006772.3(SYNGAP1):c.712G>T (p.Glu238Ter)
|
|
|
NM_006772.3(SYNGAP1):c.718G>A (p.Asp240Asn)
|
|
|
NM_006772.3(SYNGAP1):c.718_719del (p.Asp240fs)
|
rs1777306901
|
|
NM_006772.3(SYNGAP1):c.719A>G (p.Asp240Gly)
|
|
|
NM_006772.3(SYNGAP1):c.725G>A (p.Trp242Ter)
|
rs1554120974
|
|
NM_006772.3(SYNGAP1):c.729T>A (p.Ile243=)
|
|
|
NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter)
|
rs1554120978
|
|
NM_006772.3(SYNGAP1):c.73C>T (p.Arg25Trp)
|
|
|
NM_006772.3(SYNGAP1):c.742C>T (p.Arg248Trp)
|
rs1777307682
|
|
NM_006772.3(SYNGAP1):c.743G>C (p.Arg248Pro)
|
rs1400108198
|
|
NM_006772.3(SYNGAP1):c.745G>A (p.Ala249Thr)
|
rs1777307917
|
|
NM_006772.3(SYNGAP1):c.745del (p.Ala249fs)
|
rs1777307832
|
|
NM_006772.3(SYNGAP1):c.747A>C (p.Ala249=)
|
|
|
NM_006772.3(SYNGAP1):c.74G>A (p.Arg25Gln)
|
|
|
NM_006772.3(SYNGAP1):c.75G>T (p.Arg25=)
|
rs1776860145
|
|
NM_006772.3(SYNGAP1):c.761dup (p.Asp255fs)
|
|
|
NM_006772.3(SYNGAP1):c.762+12T>A
|
|
|
NM_006772.3(SYNGAP1):c.762+18G>A
|
|
|
NM_006772.3(SYNGAP1):c.762+1G>T
|
rs797046031
|
|
NM_006772.3(SYNGAP1):c.762G>C (p.Lys254Asn)
|
rs1777308288
|
|
NM_006772.3(SYNGAP1):c.763-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.763-5G>C
|
|
|
NM_006772.3(SYNGAP1):c.763-7A>T
|
|
|
NM_006772.3(SYNGAP1):c.763-8C>T
|
rs2151168250
|
|
NM_006772.3(SYNGAP1):c.765C>T (p.Asp255=)
|
|
|
NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser)
|
|
|
NM_006772.3(SYNGAP1):c.772C>T (p.Arg258Cys)
|
|
|
NM_006772.3(SYNGAP1):c.775C>T (p.Arg259Trp)
|
|
|
NM_006772.3(SYNGAP1):c.780A>T (p.Val260=)
|
rs2151168292
|
|
NM_006772.3(SYNGAP1):c.781_784del (p.Asp261fs)
|
rs1581986872
|
|
NM_006772.3(SYNGAP1):c.790C>T (p.Leu264=)
|
rs2151168337
|
|
NM_006772.3(SYNGAP1):c.790_798del (p.Leu264_Leu266del)
|
rs1554121164
|
|
NM_006772.3(SYNGAP1):c.791T>A (p.Leu264Gln)
|
|
|
NM_006772.3(SYNGAP1):c.804C>T (p.Ile268=)
|
|
|
NM_006772.3(SYNGAP1):c.812C>A (p.Ala271Asp)
|
|
|
NM_006772.3(SYNGAP1):c.815G>A (p.Arg272Gln)
|
|
|
NM_006772.3(SYNGAP1):c.816G>A (p.Arg272=)
|
rs1581986949
|
|
NM_006772.3(SYNGAP1):c.819G>A (p.Glu273=)
|
|
|
NM_006772.3(SYNGAP1):c.819G>T (p.Glu273Asp)
|
rs1256016634
|
|
NM_006772.3(SYNGAP1):c.820C>T (p.Leu274=)
|
rs1325101897
|
|
NM_006772.3(SYNGAP1):c.821T>A (p.Leu274Gln)
|
|
|
NM_006772.3(SYNGAP1):c.828C>T (p.Pro276=)
|
|
|
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs)
|
rs2151168473
|
|
NM_006772.3(SYNGAP1):c.835C>T (p.Arg279Trp)
|
rs2151168530
|
|
NM_006772.3(SYNGAP1):c.840C>G (p.Tyr280Ter)
|
|
|
NM_006772.3(SYNGAP1):c.844T>A (p.Cys282Ser)
|
|
|
NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg)
|
rs1581987022
|
|
NM_006772.3(SYNGAP1):c.846T>C (p.Cys282=)
|
|
|
NM_006772.3(SYNGAP1):c.847del (p.Glu283fs)
|
rs2151168593
|
|
NM_006772.3(SYNGAP1):c.851T>C (p.Leu284Pro)
|
|
|
NM_006772.3(SYNGAP1):c.857_864dup (p.Met289fs)
|
rs1554121189
|
|
NM_006772.3(SYNGAP1):c.859G>C (p.Asp287His)
|
rs2151168637
|
|
NM_006772.3(SYNGAP1):c.859G>T (p.Asp287Tyr)
|
|
|
NM_006772.3(SYNGAP1):c.85_86del (p.Met29fs)
|
|
|
NM_006772.3(SYNGAP1):c.860A>C (p.Asp287Ala)
|
|
|
NM_006772.3(SYNGAP1):c.862G>A (p.Asp288Asn)
|
|
|
NM_006772.3(SYNGAP1):c.865A>G (p.Met289Val)
|
|
|
NM_006772.3(SYNGAP1):c.866T>C (p.Met289Thr)
|
|
|
NM_006772.3(SYNGAP1):c.86T>C (p.Met29Thr)
|
rs1273250249
|
|
NM_006772.3(SYNGAP1):c.872A>G (p.Tyr291Cys)
|
|
|
NM_006772.3(SYNGAP1):c.877C>T (p.Arg293Cys)
|
|
|
NM_006772.3(SYNGAP1):c.878G>C (p.Arg293Pro)
|
rs1561784553
|
|
NM_006772.3(SYNGAP1):c.878del (p.Arg293fs)
|
rs1561784560
|
|
NM_006772.3(SYNGAP1):c.881_886delinsTCACCG (p.Thr294_Ser296delinsIleThrAla)
|
|
|
NM_006772.3(SYNGAP1):c.882C>T (p.Thr294=)
|
|
|
NM_006772.3(SYNGAP1):c.883_884del (p.Thr295fs)
|
rs2151168687
|
|
NM_006772.3(SYNGAP1):c.886T>G (p.Ser296Ala)
|
rs1554121193
|
|
NM_006772.3(SYNGAP1):c.88C>T (p.His30Tyr)
|
rs1776861012
|
|
NM_006772.3(SYNGAP1):c.892C>T (p.Pro298Ser)
|
|
|
NM_006772.3(SYNGAP1):c.896del (p.Arg299fs)
|
rs863224930
|
|
NM_006772.3(SYNGAP1):c.897C>T (p.Arg299=)
|
|
|
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.910G>A (p.Asp304Asn)
|
|
|
NM_006772.3(SYNGAP1):c.917T>A (p.Val306Asp)
|
|
|
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.927C>T (p.Gly309=)
|
|
|
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)
|
rs1554121206
|
|
NM_006772.3(SYNGAP1):c.929A>G (p.Glu310Gly)
|
|
|
NM_006772.3(SYNGAP1):c.92G>A (p.Arg31Gln)
|
|
|
NM_006772.3(SYNGAP1):c.930G>A (p.Glu310=)
|
rs1760890843
|
|
NM_006772.3(SYNGAP1):c.930G>C (p.Glu310Asp)
|
rs1760890843
|
|
NM_006772.3(SYNGAP1):c.936C>T (p.Phe312=)
|
|
|
NM_006772.3(SYNGAP1):c.936dup (p.Glu313fs)
|
rs2151168879
|
|
NM_006772.3(SYNGAP1):c.937G>A (p.Glu313Lys)
|
|
|
NM_006772.3(SYNGAP1):c.937G>T (p.Glu313Ter)
|
rs1554121207
|
|
NM_006772.3(SYNGAP1):c.948C>T (p.Asn316=)
|
|
|
NM_006772.3(SYNGAP1):c.949del (p.Leu317fs)
|
rs1554121211
|
|
NM_006772.3(SYNGAP1):c.953C>T (p.Pro318Leu)
|
rs780238395
|
|
NM_006772.3(SYNGAP1):c.958G>A (p.Val320Ile)
|
|
|
NM_006772.3(SYNGAP1):c.958G>C (p.Val320Leu)
|
rs1760891716
|
|
NM_006772.3(SYNGAP1):c.961C>T (p.Arg321Cys)
|
|
|
NM_006772.3(SYNGAP1):c.962G>A (p.Arg321His)
|
|
|
NM_006772.3(SYNGAP1):c.968T>C (p.Leu323Pro)
|
|
|
NM_006772.3(SYNGAP1):c.968T>G (p.Leu323Arg)
|
rs1760891950
|
|
NM_006772.3(SYNGAP1):c.971G>A (p.Arg324Gln)
|
|
|
NM_006772.3(SYNGAP1):c.97del (p.Gln33fs)
|
|
|
NM_006772.3(SYNGAP1):c.980T>C (p.Leu327Pro)
|
rs1581987268
|
|
NM_006772.3(SYNGAP1):c.986G>A (p.Arg329His)
|
|
|
NM_006772.3(SYNGAP1):c.99del (p.Gln33fs)
|
rs2151129654
|
|
SYNGAP1, TRP267TER
|
|
|