NM_001372044.2(SHANK3):c.1802+18T>C
|
rs1557620
|
0.80113
|
NM_001372044.2(SHANK3):c.1530-440T>C
|
rs9616818
|
0.77757
|
NM_001372044.2(SHANK3):c.1529+106C>A
|
rs2341009
|
0.76426
|
NM_001372044.2(SHANK3):c.2324+101T>C
|
rs5770819
|
0.53140
|
NM_001372044.2(SHANK3):c.2220-195G>A
|
rs4824145
|
0.52516
|
NM_001372044.2(SHANK3):c.2541-113T>G
|
rs8136930
|
0.52364
|
NM_001372044.2(SHANK3):c.959T>C (p.Ile320Thr)
|
rs9616915
|
0.46763
|
NM_001372044.2(SHANK3):c.4794+154C>T
|
rs5770994
|
0.43670
|
NM_001372044.2(SHANK3):c.1529+44G>A
|
rs13055562
|
0.41399
|
NM_001372044.2(SHANK3):c.675+16G>A
|
rs9616914
|
0.36263
|
NM_001372044.2(SHANK3):c.1688+265C>T
|
rs9616940
|
0.31232
|
NM_001372044.2(SHANK3):c.1530-534G>C
|
rs9616939
|
0.30460
|
NM_001372044.2(SHANK3):c.2300+151T>C
|
rs9968024
|
0.29015
|
NM_001372044.2(SHANK3):c.2456-257G>T
|
rs28689705
|
0.15858
|
NM_001372044.2(SHANK3):c.1113-247C>T
|
rs7284093
|
0.10768
|
NM_001372044.2(SHANK3):c.1689-24G>A
|
rs9616942
|
0.09689
|
NM_001372044.2(SHANK3):c.2540+277T>C
|
rs113872596
|
0.05245
|
NM_001372044.2(SHANK3):c.4794+228C>T
|
rs56207913
|
0.05202
|
NM_001372044.2(SHANK3):c.2455+120C>T
|
rs77869422
|
0.04277
|
NM_001372044.2(SHANK3):c.2301-51C>T
|
rs116503692
|
0.03548
|
NM_001372044.2(SHANK3):c.1530-601C>T
|
rs73174411
|
0.03335
|
NM_001372044.2(SHANK3):c.995+46T>G
|
rs916588
|
0.03034
|
NM_001372044.2(SHANK3):c.2456-62G>A
|
rs7289806
|
0.02620
|
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr)
|
rs61729471
|
0.02583
|
NM_001372044.2(SHANK3):c.1606C>G (p.Arg536Gly)
|
rs1043729674
|
0.02423
|
NM_001372044.2(SHANK3):c.1190+230C>G
|
rs13054275
|
0.02298
|
NM_001372044.2(SHANK3):c.2541-95G>A
|
rs186169549
|
0.02035
|
NM_001372044.2(SHANK3):c.2455+181C>T
|
rs115459966
|
0.01986
|
NM_001372044.2(SHANK3):c.1112+9G>A
|
rs77946357
|
0.01890
|
NM_001372044.2(SHANK3):c.1113-228G>A
|
rs73429494
|
0.01867
|
NM_001372044.2(SHANK3):c.1191-67C>T
|
rs116756427
|
0.01813
|
NM_001372044.2(SHANK3):c.3222C>T (p.Tyr1074=)
|
rs144470529
|
0.01743
|
NM_001372044.2(SHANK3):c.494+283_494+284insAGTGTGTGCAGT
|
rs374969130
|
0.01575
|
NM_001372044.2(SHANK3):c.1191-24G>A
|
rs114849024
|
0.01359
|
NM_001372044.2(SHANK3):c.1529+78C>T
|
rs116628032
|
0.01357
|
NM_001372044.2(SHANK3):c.1258-39C>A
|
rs115640144
|
0.01344
|
NM_001372044.2(SHANK3):c.2325-132C>G
|
rs116289450
|
0.01325
|
NM_001372044.2(SHANK3):c.1257+208A>G
|
rs117641416
|
0.01205
|
NM_001372044.2(SHANK3):c.567-252A>G
|
rs11912028
|
0.01072
|
NM_001372044.2(SHANK3):c.1113-8C>T
|
rs9628236
|
0.00917
|
NM_001372044.2(SHANK3):c.3762G>A (p.Lys1254=)
|
rs145196448
|
0.00666
|
NM_001372044.2(SHANK3):c.2541-267C>T
|
rs114739072
|
0.00609
|
NM_001372044.2(SHANK3):c.2535G>A (p.Pro845=)
|
rs117066889
|
0.00587
|
NM_001372044.2(SHANK3):c.5172C>T (p.Pro1724=)
|
rs557669600
|
0.00492
|
NM_001372044.2(SHANK3):c.1113-95C>T
|
rs114211068
|
0.00471
|
NM_001372044.2(SHANK3):c.2455+34G>A
|
rs148315568
|
0.00456
|
NM_001372044.2(SHANK3):c.1470C>T (p.Ala490=)
|
rs116756129
|
0.00455
|
NM_001372044.2(SHANK3):c.2219+106C>T
|
rs147738095
|
0.00454
|
NM_001372044.2(SHANK3):c.1299G>A (p.Leu433=)
|
rs193191459
|
0.00450
|
NM_001372044.2(SHANK3):c.1191-5C>T
|
rs146144920
|
0.00434
|
NM_001372044.2(SHANK3):c.2541-192G>A
|
rs181480195
|
0.00429
|
NM_001372044.2(SHANK3):c.4794+275G>A
|
rs151251238
|
0.00424
|
NM_001372044.2(SHANK3):c.3372C>T (p.Pro1124=)
|
rs200572899
|
0.00421
|
NM_001372044.2(SHANK3):c.996-27C>G
|
rs181741673
|
0.00409
|
NM_001372044.2(SHANK3):c.885C>G (p.Leu295=)
|
rs187348640
|
0.00405
|
NM_001372044.2(SHANK3):c.3588C>T (p.Ser1196=)
|
rs200077311
|
0.00387
|
NM_001372044.2:c.1116C>T (p.Ser372=)
|
rs201282170
|
0.00386
|
NM_001372044.2(SHANK3):c.1688+276G>A
|
rs141240642
|
0.00350
|
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr)
|
rs749130556
|
0.00319
|
NM_001372044.2(SHANK3):c.2455+268C>T
|
rs73431492
|
0.00302
|
NM_001372044.2(SHANK3):c.2456-269C>T
|
rs73431494
|
0.00296
|
NM_001372044.2(SHANK3):c.2324+9T>C
|
rs143935032
|
0.00282
|
NM_001372044.2(SHANK3):c.4794+12G>A
|
rs182725302
|
0.00254
|
NM_001372044.2(SHANK3):c.1191-66G>A
|
rs555709852
|
0.00235
|
NM_001372044.2(SHANK3):c.291-18G>A
|
rs779140644
|
0.00228
|
NM_001372044.2(SHANK3):c.1529+34T>G
|
rs1490345495
|
0.00224
|
NM_001372044.2(SHANK3):c.4104C>T (p.Ser1368=)
|
rs201793890
|
0.00221
|
NM_001372044.2(SHANK3):c.3238C>G (p.Pro1080Ala)
|
rs563455211
|
0.00198
|
NM_001372044.2(SHANK3):c.1257+13C>T
|
rs187458677
|
0.00185
|
NM_001372044.2(SHANK3):c.1257+22G>A
|
rs139076185
|
0.00178
|
NM_001372044.2(SHANK3):c.291-19C>G
|
rs757516415
|
0.00166
|
NM_001372044.2(SHANK3):c.1190+7C>T
|
rs186106384
|
0.00149
|
NM_001372044.2(SHANK3):c.474G>T (p.Thr158=)
|
rs530240325
|
0.00137
|
NM_001372044.2(SHANK3):c.2436C>T (p.Ala812=)
|
rs61729465
|
0.00131
|
NM_001372044.2(SHANK3):c.2455+26G>A
|
rs143299890
|
0.00125
|
NM_001372044.2(SHANK3):c.1113-38C>T
|
rs143896169
|
0.00121
|
NM_001372044.2(SHANK3):c.3114G>C (p.Ala1038=)
|
rs772152761
|
0.00113
|
NM_001372044.2(SHANK3):c.1635C>T (p.Ala545=)
|
rs780922475
|
0.00111
|
NM_001372044.2(SHANK3):c.3559C>T (p.Leu1187=)
|
rs376858991
|
0.00107
|
NM_001372044.2(SHANK3):c.1689-22C>T
|
rs200726327
|
0.00102
|
NM_001372044.2(SHANK3):c.5177C>T (p.Pro1726Leu)
|
rs932743656
|
0.00099
|
NM_001372044.2(SHANK3):c.827+21G>A
|
rs200342131
|
0.00098
|
NM_001372044.2(SHANK3):c.4410C>T (p.Thr1470=)
|
rs376136109
|
0.00094
|
NM_001372044.2(SHANK3):c.2220-36T>C
|
rs201640074
|
0.00092
|
NM_001372044.2(SHANK3):c.2325-149G>A
|
rs753056563
|
0.00089
|
NM_001372044.2(SHANK3):c.996-7C>G
|
rs371172305
|
0.00088
|
NM_001372044.2(SHANK3):c.2300+10G>A
|
rs202200715
|
0.00087
|
NM_001372044.2(SHANK3):c.567-11C>T
|
rs137910727
|
0.00083
|
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys)
|
rs201483867
|
0.00081
|
NM_001372044.2(SHANK3):c.827+12C>T
|
rs142570054
|
0.00078
|
NM_001372044.2(SHANK3):c.4223T>G (p.Val1408Gly)
|
rs200087210
|
0.00064
|
NM_001372044.2(SHANK3):c.4101C>T (p.Ser1367=)
|
rs369992254
|
0.00062
|
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val)
|
rs767058690
|
0.00061
|
NM_001372044.2(SHANK3):c.4569C>T (p.His1523=)
|
rs368142005
|
0.00059
|
NM_001372044.2(SHANK3):c.676-22C>T
|
rs201511318
|
0.00055
|
NM_001372044.2(SHANK3):c.1587G>A (p.Ala529=)
|
rs758337485
|
0.00054
|
NM_001372044.2(SHANK3):c.3742G>A (p.Ala1248Thr)
|
rs139686326
|
0.00053
|
NM_001372044.2(SHANK3):c.4671G>A (p.Gly1557=)
|
rs191010623
|
0.00053
|
NM_001372044.2(SHANK3):c.696C>T (p.Ala232=)
|
rs201013911
|
0.00053
|
NM_001372044.2(SHANK3):c.3180C>T (p.Pro1060=)
|
rs1033616971
|
0.00050
|
NM_001372044.2(SHANK3):c.4038C>T (p.Gly1346=)
|
rs367676023
|
0.00050
|
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu)
|
rs73174429
|
0.00046
|
NM_001372044.2(SHANK3):c.1530-282G>T
|
rs764284877
|
0.00045
|
NM_001372044.2(SHANK3):c.2456-49G>A
|
rs191123221
|
0.00045
|
NM_001372044.2(SHANK3):c.708C>T (p.Asn236=)
|
rs79762996
|
0.00045
|
NM_033517.1:c.-4G>T
|
rs1171230055
|
0.00039
|
NM_001372044.2(SHANK3):c.4794+11C>T
|
rs201673541
|
0.00034
|
NM_001372044.2(SHANK3):c.2799C>T (p.Gly933=)
|
rs907713706
|
0.00033
|
NM_001372044.2(SHANK3):c.3705T>C (p.Ala1235=)
|
rs576803553
|
0.00033
|
NM_001372044.2(SHANK3):c.290+22C>T
|
rs938259102
|
0.00032
|
NM_001372044.2(SHANK3):c.2325-66G>C
|
rs754900884
|
0.00030
|
NM_001372044.2(SHANK3):c.2820G>A (p.Ala940=)
|
rs758217731
|
0.00029
|
NM_001372044.2(SHANK3):c.3876C>T (p.Asn1292=)
|
rs371876840
|
0.00028
|
NM_001372044.2(SHANK3):c.1530-287G>T
|
rs760914514
|
0.00024
|
NM_001372044.2(SHANK3):c.2400G>A (p.Thr800=)
|
rs370837596
|
0.00024
|
NM_001372044.2(SHANK3):c.1248G>A (p.Ser416=)
|
rs372822152
|
0.00022
|
NM_001372044.2(SHANK3):c.4170C>T (p.Asn1390=)
|
rs558643743
|
0.00022
|
NM_001372044.2(SHANK3):c.2250C>T (p.Arg750=)
|
rs188450024
|
0.00021
|
NM_001372044.2(SHANK3):c.837C>A (p.Asp279Glu)
|
rs375458711
|
0.00021
|
NM_001372044.2(SHANK3):c.5043C>G (p.Pro1681=)
|
rs958460783
|
0.00020
|
NM_001372044.2(SHANK3):c.4794+48G>A
|
rs142301047
|
0.00019
|
NM_001372044.2(SHANK3):c.690C>T (p.Leu230=)
|
rs371154104
|
0.00018
|
NM_001372044.2(SHANK3):c.3917G>A (p.Arg1306His)
|
rs750186589
|
0.00017
|
NM_001372044.2(SHANK3):c.4013C>T (p.Pro1338Leu)
|
rs757572910
|
0.00017
|
NM_001372044.2(SHANK3):c.566+13G>T
|
rs373994144
|
0.00014
|
NM_001372044.2(SHANK3):c.1398C>G (p.Pro466=)
|
rs371565755
|
0.00013
|
NM_001372044.2(SHANK3):c.3885G>A (p.Glu1295=)
|
rs546313986
|
0.00013
|
NM_001372044.2(SHANK3):c.966C>T (p.Asp322=)
|
rs778488904
|
0.00012
|
NM_001372044.2(SHANK3):c.2324+23C>T
|
rs373375556
|
0.00011
|
NM_001372044.2(SHANK3):c.3959C>T (p.Ala1320Val)
|
rs552332994
|
0.00011
|
NM_001372044.2(SHANK3):c.675+15C>T
|
rs199893190
|
0.00011
|
NM_001372044.2(SHANK3):c.1201G>A (p.Ala401Thr)
|
rs371238756
|
0.00010
|
NM_001372044.2(SHANK3):c.3612A>G (p.Thr1204=)
|
rs746873311
|
0.00010
|
NM_001372044.2(SHANK3):c.3938C>T (p.Ala1313Val)
|
rs188531567
|
0.00010
|
NM_001372044.2(SHANK3):c.4441C>G (p.Leu1481Val)
|
rs201973139
|
0.00010
|
NM_001372044.2(SHANK3):c.2422G>A (p.Ala808Thr)
|
rs376095125
|
0.00009
|
NM_001372044.2(SHANK3):c.399G>A (p.Pro133=)
|
rs768113393
|
0.00009
|
NM_001372044.2(SHANK3):c.4818C>T (p.Ile1606=)
|
rs748062220
|
0.00008
|
NM_001372044.2(SHANK3):c.*9C>T
|
rs1296708374
|
0.00007
|
NM_001372044.2(SHANK3):c.1113-7G>A
|
rs368558971
|
0.00007
|
NM_001372044.2(SHANK3):c.1688+14G>C
|
rs774946128
|
0.00007
|
NM_001372044.2(SHANK3):c.5094G>T (p.Val1698=)
|
rs972006253
|
0.00007
|
NM_001372044.2(SHANK3):c.827+30G>A
|
rs765779866
|
0.00007
|
NM_001372044.2(SHANK3):c.2148C>T (p.Val716=)
|
rs754669007
|
0.00006
|
NM_001372044.2(SHANK3):c.2455+16G>A
|
rs371419153
|
0.00006
|
NM_001372044.2(SHANK3):c.2943T>A (p.Pro981=)
|
rs1000823234
|
0.00006
|
NM_001372044.2(SHANK3):c.4599C>T (p.Ala1533=)
|
rs371743889
|
0.00006
|
NM_001372044.2(SHANK3):c.5412C>T (p.Asp1804=)
|
rs1012662762
|
0.00006
|
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=)
|
rs747708688
|
0.00005
|
NM_001372044.2(SHANK3):c.4392C>T (p.Ser1464=)
|
rs767710495
|
0.00005
|
NM_001372044.2(SHANK3):c.651C>T (p.Asn217=)
|
rs751998473
|
0.00005
|
NM_001372044.2(SHANK3):c.1513G>A (p.Gly505Ser)
|
rs563454435
|
0.00004
|
NM_001372044.2(SHANK3):c.2385C>T (p.Ala795=)
|
rs372388703
|
0.00004
|
NM_001372044.2(SHANK3):c.2479G>A (p.Ala827Thr)
|
rs749080314
|
0.00004
|
NM_001372044.2(SHANK3):c.2745G>A (p.Pro915=)
|
rs1453397190
|
0.00004
|
NM_001372044.2(SHANK3):c.4083A>G (p.Pro1361=)
|
rs371543035
|
0.00004
|
NM_001372044.2(SHANK3):c.4581C>T (p.Ala1527=)
|
rs530029288
|
0.00004
|
NM_001372044.2(SHANK3):c.4924G>A (p.Gly1642Ser)
|
rs1050241731
|
0.00004
|
NM_001372044.2(SHANK3):c.2296C>T (p.Leu766=)
|
rs201094179
|
0.00003
|
NM_001372044.2(SHANK3):c.3309G>T (p.Val1103=)
|
rs746196255
|
0.00003
|
NM_001372044.2(SHANK3):c.3337A>G (p.Ser1113Gly)
|
rs949742097
|
0.00003
|
NM_001372044.2(SHANK3):c.3918C>G (p.Arg1306=)
|
rs1415046695
|
0.00003
|
NM_001372044.2(SHANK3):c.4133G>A (p.Arg1378Gln)
|
rs765793587
|
0.00003
|
NM_001372044.2(SHANK3):c.4202C>T (p.Pro1401Leu)
|
rs768398764
|
0.00003
|
NM_001372044.2(SHANK3):c.5160C>T (p.Pro1720=)
|
rs751652089
|
0.00003
|
NM_001372044.2(SHANK3):c.766C>T (p.Arg256Cys)
|
rs1030097250
|
0.00003
|
NM_001372044.2(SHANK3):c.928C>T (p.Leu310=)
|
rs756340256
|
0.00003
|
NM_001372044.2(SHANK3):c.1112+4C>T
|
rs376588105
|
0.00002
|
NM_001372044.2(SHANK3):c.2678A>C (p.Gln893Pro)
|
rs1020480936
|
0.00002
|
NM_001372044.2(SHANK3):c.3507C>A (p.Ile1169=)
|
rs746818601
|
0.00002
|
NM_001372044.2(SHANK3):c.3547C>T (p.Leu1183=)
|
rs764710574
|
0.00002
|
NM_001372044.2(SHANK3):c.3616G>C (p.Val1206Leu)
|
rs201641613
|
0.00002
|
NM_001372044.2(SHANK3):c.3760A>G (p.Lys1254Glu)
|
rs771528741
|
0.00002
|
NM_001372044.2(SHANK3):c.3985C>T (p.Pro1329Ser)
|
rs748123356
|
0.00002
|
NM_001372044.2(SHANK3):c.4097C>T (p.Ser1366Leu)
|
rs773196497
|
0.00002
|
NM_001372044.2(SHANK3):c.4365C>T (p.Ser1455=)
|
rs371175325
|
0.00002
|
NM_001372044.2(SHANK3):c.4667G>A (p.Arg1556Gln)
|
rs1216527991
|
0.00002
|
NM_001372044.2(SHANK3):c.588C>G (p.Asp196Glu)
|
rs370856789
|
0.00002
|
NM_001372044.2(SHANK3):c.1144G>T (p.Ala382Ser)
|
rs1234645097
|
0.00001
|
NM_001372044.2(SHANK3):c.1175A>G (p.Gln392Arg)
|
rs765089490
|
0.00001
|
NM_001372044.2(SHANK3):c.1251T>C (p.Asp417=)
|
rs1377234347
|
0.00001
|
NM_001372044.2(SHANK3):c.1312G>A (p.Gly438Ser)
|
rs368073391
|
0.00001
|
NM_001372044.2(SHANK3):c.1384G>A (p.Ala462Thr)
|
rs924786980
|
0.00001
|
NM_001372044.2(SHANK3):c.1689-13C>T
|
rs547613640
|
0.00001
|
NM_001372044.2(SHANK3):c.1793A>G (p.Asp598Gly)
|
rs1456892761
|
0.00001
|
NM_001372044.2(SHANK3):c.1832G>A (p.Arg611Gln)
|
rs767437118
|
0.00001
|
NM_001372044.2(SHANK3):c.2145G>A (p.Lys715=)
|
rs373607816
|
0.00001
|
NM_001372044.2(SHANK3):c.2239G>A (p.Gly747Arg)
|
rs763010846
|
0.00001
|
NM_001372044.2(SHANK3):c.2261C>T (p.Pro754Leu)
|
rs1257874744
|
0.00001
|
NM_001372044.2(SHANK3):c.2301-11T>C
|
rs946851711
|
0.00001
|
NM_001372044.2(SHANK3):c.2398A>G (p.Thr800Ala)
|
rs748955765
|
0.00001
|
NM_001372044.2(SHANK3):c.2437G>A (p.Ala813Thr)
|
rs373822999
|
0.00001
|
NM_001372044.2(SHANK3):c.2455+1G>A
|
rs1396379503
|
0.00001
|
NM_001372044.2(SHANK3):c.2968C>G (p.Pro990Ala)
|
rs975392090
|
0.00001
|
NM_001372044.2(SHANK3):c.3144C>T (p.Ser1048=)
|
rs760688077
|
0.00001
|
NM_001372044.2(SHANK3):c.3196G>A (p.Gly1066Ser)
|
rs900070859
|
0.00001
|
NM_001372044.2(SHANK3):c.3294G>A (p.Arg1098=)
|
rs757833825
|
0.00001
|
NM_001372044.2(SHANK3):c.3343C>T (p.Pro1115Ser)
|
rs762947232
|
0.00001
|
NM_001372044.2(SHANK3):c.3353A>C (p.Asp1118Ala)
|
rs1064793828
|
0.00001
|
NM_001372044.2(SHANK3):c.3487C>T (p.Pro1163Ser)
|
rs565975948
|
0.00001
|
NM_001372044.2(SHANK3):c.350C>T (p.Ala117Val)
|
rs1461739965
|
0.00001
|
NM_001372044.2(SHANK3):c.3527C>T (p.Pro1176Leu)
|
rs768527232
|
0.00001
|
NM_001372044.2(SHANK3):c.3675C>T (p.Asp1225=)
|
rs747936370
|
0.00001
|
NM_001372044.2(SHANK3):c.3779G>A (p.Arg1260Gln)
|
rs752694316
|
0.00001
|
NM_001372044.2(SHANK3):c.3784T>A (p.Ser1262Thr)
|
rs946579020
|
0.00001
|
NM_001372044.2(SHANK3):c.3852C>T (p.Leu1284=)
|
rs753765611
|
0.00001
|
NM_001372044.2(SHANK3):c.4006G>A (p.Gly1336Ser)
|
rs752227380
|
0.00001
|
NM_001372044.2(SHANK3):c.4024G>A (p.Gly1342Arg)
|
rs773137381
|
0.00001
|
NM_001372044.2(SHANK3):c.4134A>T (p.Arg1378=)
|
rs750852888
|
0.00001
|
NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu)
|
rs1464985103
|
0.00001
|
NM_001372044.2(SHANK3):c.4233G>A (p.Pro1411=)
|
rs369083529
|
0.00001
|
NM_001372044.2(SHANK3):c.4377C>T (p.Thr1459=)
|
rs1264636649
|
0.00001
|
NM_001372044.2(SHANK3):c.4436C>T (p.Thr1479Ile)
|
rs777394030
|
0.00001
|
NM_001372044.2(SHANK3):c.4520C>T (p.Pro1507Leu)
|
rs752413653
|
0.00001
|
NM_001372044.2(SHANK3):c.4600G>A (p.Gly1534Arg)
|
rs1440735830
|
0.00001
|
NM_001372044.2(SHANK3):c.4657G>A (p.Val1553Met)
|
rs530777182
|
0.00001
|
NM_001372044.2(SHANK3):c.4749G>A (p.Thr1583=)
|
rs751058928
|
0.00001
|
NM_001372044.2(SHANK3):c.492G>A (p.Glu164=)
|
rs1377264220
|
0.00001
|
NM_001372044.2(SHANK3):c.4950C>T (p.Ala1650=)
|
rs1169261374
|
0.00001
|
NM_001372044.2(SHANK3):c.5071A>G (p.Ile1691Val)
|
rs991616356
|
0.00001
|
NM_001372044.2(SHANK3):c.5079C>T (p.His1693=)
|
rs917429108
|
0.00001
|
NM_001372044.2(SHANK3):c.609G>A (p.Thr203=)
|
rs555588172
|
0.00001
|
NM_001372044.2(SHANK3):c.828-6C>A
|
rs748298696
|
0.00001
|
NM_001372044.2(SHANK3):c.869G>A (p.Arg290His)
|
rs775487427
|
0.00001
|
NM_001372044.2(SHANK3):c.994G>A (p.Ala332Thr)
|
rs1210893160
|
0.00001
|
GRCh37/hg19 22q13.33(chr22:51068560-51124975)x3
|
|
|
GRCh37/hg19 22q13.33(chr22:51107230-51166282)x3
|
|
|
GRCh37/hg19 22q13.33(chr22:51123491-51144365)
|
|
|
GRCh37/hg19 22q13.33(chr22:51127897-51176099)x1
|
|
|
GRCh37/hg19 22q13.33(chr22:51132804-51144365)
|
|
|
GRCh37/hg19 22q13.33(chr22:51137117-51171693)x0
|
|
|
GRCh37/hg19 22q13.33(chr22:51153345-51162581)x1
|
|
|
NC_000022.11:g.50697558T>C
|
|
|
NM_001372044.2(SHANK3):c.*29T>G
|
|
|
NM_001372044.2(SHANK3):c.*50del
|
|
|
NM_001372044.2(SHANK3):c.1012G>A (p.Val338Met)
|
|
|
NM_001372044.2(SHANK3):c.1037T>G (p.Phe346Cys)
|
|
|
NM_001372044.2(SHANK3):c.1040A>G (p.Tyr347Cys)
|
rs1555905749
|
|
NM_001372044.2(SHANK3):c.1052T>C (p.Met351Thr)
|
|
|
NM_001372044.2(SHANK3):c.1052T>G (p.Met351Arg)
|
|
|
NM_001372044.2(SHANK3):c.1054G>A (p.Gly352Arg)
|
rs796878782
|
|
NM_001372044.2(SHANK3):c.1056G>T (p.Gly352=)
|
|
|
NM_001372044.2(SHANK3):c.1065C>G (p.Asn355Lys)
|
rs200400333
|
|
NM_001372044.2(SHANK3):c.1066G>A (p.Ala356Thr)
|
|
|
NM_001372044.2(SHANK3):c.1087C>T (p.His363Tyr)
|
rs2146773272
|
|
NM_001372044.2(SHANK3):c.1111-8C>T
|
|
|
NM_001372044.2(SHANK3):c.1112+1G>A
|
rs1555905767
|
|
NM_001372044.2(SHANK3):c.1112+5G>T
|
rs370396444
|
|
NM_001372044.2(SHANK3):c.1113-207G>T
|
rs9616933
|
|
NM_001372044.2(SHANK3):c.1138C>G (p.Arg380Gly)
|
|
|
NM_001372044.2(SHANK3):c.1138C>T (p.Arg380Cys)
|
rs2082981691
|
|
NM_001372044.2(SHANK3):c.1153G>C (p.Asp385His)
|
rs2124372223
|
|
NM_001372044.2(SHANK3):c.1161C>A (p.Arg387=)
|
rs2124372227
|
|
NM_001372044.2(SHANK3):c.1177A>G (p.Thr393Ala)
|
|
|
NM_001372044.2(SHANK3):c.1181C>T (p.Ala394Val)
|
rs2124372229
|
|
NM_001372044.2(SHANK3):c.1188+7C>T
|
|
|
NM_001372044.2(SHANK3):c.1188+8G>A
|
|
|
NM_001372044.2(SHANK3):c.1191-6C>T
|
|
|
NM_001372044.2(SHANK3):c.1235C>G
|
rs869312715
|
|
NM_001372044.2(SHANK3):c.1235C>T (p.Thr412Ile)
|
|
|
NM_001372044.2(SHANK3):c.1255G>T (p.Val419Leu)
|
rs1057519406
|
|
NM_001372044.2(SHANK3):c.1257+4A>G
|
rs1555906705
|
|
NM_001372044.2(SHANK3):c.125G>C (p.Gly42Ala)
|
|
|
NM_001372044.2(SHANK3):c.1294C>T (p.Arg432Ter)
|
|
|
NM_001372044.2(SHANK3):c.1307C>G (p.Pro436Arg)
|
|
|
NM_001372044.2(SHANK3):c.1336C>T (p.Gln446Ter)
|
rs2146794652
|
|
NM_001372044.2(SHANK3):c.1353T>C (p.Asp451=)
|
rs1196417230
|
|
NM_001372044.2(SHANK3):c.1390C>T (p.Pro464Ser)
|
rs2146794712
|
|
NM_001372044.2(SHANK3):c.1413C>T (p.Leu471=)
|
|
|
NM_001372044.2(SHANK3):c.1431C>T (p.Leu477=)
|
|
|
NM_001372044.2(SHANK3):c.1471G>A (p.Asp491Asn)
|
|
|
NM_001372044.2(SHANK3):c.1482C>G (p.Ser494Arg)
|
|
|
NM_001372044.2(SHANK3):c.1511C>T (p.Ala504Val)
|
|
|
NM_001372044.2(SHANK3):c.1529+46G>A
|
rs2146795039
|
|
NM_001372044.2(SHANK3):c.1530-182CCGCGT[3]
|
rs538667292
|
|
NM_001372044.2(SHANK3):c.1530-280del
|
rs745950788
|
|
NM_001372044.2(SHANK3):c.1530-280dup
|
rs745950788
|
|
NM_001372044.2(SHANK3):c.1530-390A>T
|
rs28735993
|
|
NM_001372044.2(SHANK3):c.1547G>C (p.Gly516Ala)
|
|
|
NM_001372044.2(SHANK3):c.1551del (p.Gly518fs)
|
rs2124372231
|
|
NM_001372044.2(SHANK3):c.155G>A (p.Gly52Glu)
|
|
|
NM_001372044.2(SHANK3):c.1593dup (p.Ala532fs)
|
rs1064797289
|
|
NM_001372044.2(SHANK3):c.1594G>A (p.Ala532Thr)
|
rs1053116057
|
|
NM_001372044.2(SHANK3):c.1598C>T (p.Pro533Leu)
|
rs1555907951
|
|
NM_001372044.2(SHANK3):c.160_165= (p.Arg54_Ala55=)
|
rs566877404
|
|
NM_001372044.2(SHANK3):c.1613C>T (p.Pro538Leu)
|
rs2146799027
|
|
NM_001372044.2(SHANK3):c.1619_1629dup (p.Ser544fs)
|
|
|
NM_001372044.2(SHANK3):c.1688+203C>T
|
rs374568483
|
|
NM_001372044.2(SHANK3):c.1688+21_1688+30del
|
|
|
NM_001372044.2(SHANK3):c.1689-3C>T
|
rs565420289
|
|
NM_001372044.2(SHANK3):c.1695C>G (p.Ile565Met)
|
|
|
NM_001372044.2(SHANK3):c.16GCC[10] (p.Ala13_Pro14insAlaAla)
|
|
|
NM_001372044.2(SHANK3):c.16GCC[7] (p.Ala13del)
|
|
|
NM_001372044.2(SHANK3):c.16GCC[9] (p.Ala13_Pro14insAla)
|
|
|
NM_001372044.2(SHANK3):c.1721del (p.Lys574fs)
|
rs1064797290
|
|
NM_001372044.2(SHANK3):c.1733T>C (p.Ile578Thr)
|
rs1333345587
|
|
NM_001372044.2(SHANK3):c.1776G>A (p.Thr592=)
|
|
|
NM_001372044.2(SHANK3):c.1792G>C (p.Asp598His)
|
|
|
NM_001372044.2(SHANK3):c.1794C>A (p.Asp598Glu)
|
rs2146800699
|
|
NM_001372044.2(SHANK3):c.1797C>A (p.Cys599Ter)
|
rs377573165
|
|
NM_001372044.2(SHANK3):c.1802+22C>G
|
rs11704325
|
|
NM_001372044.2(SHANK3):c.1802+22C>T
|
rs11704325
|
|
NM_001372044.2(SHANK3):c.1814_1819dup (p.Arg606_Gln607insLeuArg)
|
rs1555908096
|
|
NM_001372044.2(SHANK3):c.1824T>G (p.His608Gln)
|
|
|
NM_001372044.2(SHANK3):c.1827C>A (p.Asp609Glu)
|
|
|
NM_001372044.2(SHANK3):c.1831C>T (p.Arg611Trp)
|
rs387906933
|
|
NM_001372044.2(SHANK3):c.2087-2_2093del
|
rs2146808453
|
|
NM_001372044.2(SHANK3):c.2149G>A (p.Gly717Arg)
|
rs1569108417
|
|
NM_001372044.2(SHANK3):c.2176C>G (p.Arg726Gly)
|
|
|
NM_001372044.2(SHANK3):c.2187C>T (p.Gly729=)
|
|
|
NM_001372044.2(SHANK3):c.2197G>A (p.Val733Ile)
|
|
|
NM_001372044.2(SHANK3):c.2214T>C (p.Ser738=)
|
rs2146808552
|
|
NM_001372044.2(SHANK3):c.2219+162G>T
|
rs148828263
|
|
NM_001372044.2(SHANK3):c.2219+82C>G
|
rs76179018
|
|
NM_001372044.2(SHANK3):c.2220-134C>T
|
|
|
NM_001372044.2(SHANK3):c.2220-195G>C
|
rs4824145
|
|
NM_001372044.2(SHANK3):c.2220-196_2220-195insCCCAC
|
rs947564448
|
|
NM_001372044.2(SHANK3):c.2220-23C>T
|
|
|
NM_001372044.2(SHANK3):c.2220-83G>A
|
|
|
NM_001372044.2(SHANK3):c.2220-8_2220-6del
|
rs1603446766
|
|
NM_001372044.2(SHANK3):c.2228C>G (p.Pro743Arg)
|
|
|
NM_001372044.2(SHANK3):c.2236G>A (p.Asp746Asn)
|
|
|
NM_001372044.2(SHANK3):c.2268C>G (p.Pro756=)
|
rs61731160
|
|
NM_001372044.2(SHANK3):c.2289A>C (p.Thr763=)
|
|
|
NM_001372044.2(SHANK3):c.2294C>T (p.Thr765Ile)
|
rs2146810295
|
|
NM_001372044.2(SHANK3):c.2300+3G>C
|
rs2083163077
|
|
NM_001372044.2(SHANK3):c.2300+4_2300+12del
|
|
|
NM_001372044.2(SHANK3):c.2300G>A (p.Arg767His)
|
rs1064796528
|
|
NM_001372044.2(SHANK3):c.2301-5C>T
|
rs181480774
|
|
NM_001372044.2(SHANK3):c.2310C>T (p.Ser770=)
|
|
|
NM_001372044.2(SHANK3):c.2324+1del
|
rs2146817773
|
|
NM_001372044.2(SHANK3):c.2325-8C>A
|
|
|
NM_001372044.2(SHANK3):c.2329G>T (p.Glu777Ter)
|
rs1131691960
|
|
NM_001372044.2(SHANK3):c.2353A>G (p.Lys785Glu)
|
|
|
NM_001372044.2(SHANK3):c.2357G>C (p.Gly786Ala)
|
|
|
NM_001372044.2(SHANK3):c.2361G>C (p.Glu787Asp)
|
|
|
NM_001372044.2(SHANK3):c.2365C>T (p.Leu789=)
|
rs1447758824
|
|
NM_001372044.2(SHANK3):c.2368G>A (p.Asp790Asn)
|
rs1555909545
|
|
NM_001372044.2(SHANK3):c.2410_2413del (p.Asp804fs)
|
|
|
NM_001372044.2(SHANK3):c.2416G>A (p.Ala806Thr)
|
|
|
NM_001372044.2(SHANK3):c.2421C>T (p.Asp807=)
|
|
|
NM_001372044.2(SHANK3):c.2452_2453del (p.Arg818fs)
|
rs2083233502
|
|
NM_001372044.2(SHANK3):c.2455+1G>C
|
|
|
NM_001372044.2(SHANK3):c.2459C>A (p.Thr820Asn)
|
|
|
NM_001372044.2(SHANK3):c.2470A>G (p.Ile824Val)
|
|
|
NM_001372044.2(SHANK3):c.2478del (p.Ala827fs)
|
rs2083233723
|
|
NM_001372044.2(SHANK3):c.2487T>G (p.Ile829Met)
|
|
|
NM_001372044.2(SHANK3):c.2507A>G (p.Gln836Arg)
|
rs2083239098
|
|
NM_001372044.2(SHANK3):c.2540+50_2540+51insTATGG
|
rs759259990
|
|
NM_001372044.2(SHANK3):c.2540+50_2540+51insTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGG
|
rs780075591
|
|
NM_001372044.2(SHANK3):c.2541-1G>C
|
rs2083271355
|
|
NM_001372044.2(SHANK3):c.2543T>C (p.Leu848Ser)
|
|
|
NM_001372044.2(SHANK3):c.2545C>G (p.Arg849Gly)
|
rs766205731
|
|
NM_001372044.2(SHANK3):c.2545C>T (p.Arg849Trp)
|
|
|
NM_001372044.2(SHANK3):c.2553del (p.Ile852fs)
|
rs1064796526
|
|
NM_001372044.2(SHANK3):c.2588A>G (p.Lys863Arg)
|
|
|
NM_001372044.2(SHANK3):c.2612G>A (p.Arg871His)
|
|
|
NM_001372044.2(SHANK3):c.2617C>T (p.Pro873Ser)
|
|
|
NM_001372044.2(SHANK3):c.2639A>G (p.Asp880Gly)
|
|
|
NM_001372044.2(SHANK3):c.2641C>A (p.Pro881Thr)
|
|
|
NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro)
|
rs2083272071
|
|
NM_001372044.2(SHANK3):c.2652G>C (p.Glu884Asp)
|
|
|
NM_001372044.2(SHANK3):c.2664C>G (p.Ile888Met)
|
rs1603447099
|
|
NM_001372044.2(SHANK3):c.2667G>C (p.Pro889=)
|
rs1569114747
|
|
NM_001372044.2(SHANK3):c.2673G>C (p.Pro891=)
|
rs1569114751
|
|
NM_001372044.2(SHANK3):c.2676G>C (p.Pro892=)
|
rs1173390690
|
|
NM_001372044.2(SHANK3):c.2682C>A (p.Thr894=)
|
|
|
NM_001372044.2(SHANK3):c.2685G>C (p.Ala895=)
|
rs1569114769
|
|
NM_001372044.2(SHANK3):c.2688G>C (p.Pro896=)
|
|
|
NM_001372044.2(SHANK3):c.2697G>C (p.Pro899=)
|
|
|
NM_001372044.2(SHANK3):c.2703G>A (p.Ala901=)
|
|
|
NM_001372044.2(SHANK3):c.2712C>T (p.Tyr904=)
|
|
|
NM_001372044.2(SHANK3):c.2717A>G (p.Asp906Gly)
|
|
|
NM_001372044.2(SHANK3):c.2720C>T (p.Ser907Leu)
|
|
|
NM_001372044.2(SHANK3):c.2728C>T (p.Pro910Ser)
|
|
|
NM_001372044.2(SHANK3):c.2734G>C (p.Ala912Pro)
|
rs1209403984
|
|
NM_001372044.2(SHANK3):c.2765C>G (p.Ala922Gly)
|
|
|
NM_001372044.2(SHANK3):c.2768A>G (p.Tyr923Cys)
|
|
|
NM_001372044.2(SHANK3):c.2769C>G (p.Tyr923Ter)
|
rs1191090323
|
|
NM_001372044.2(SHANK3):c.2838C>A (p.Tyr946Ter)
|
rs1001153999
|
|
NM_001372044.2(SHANK3):c.2838C>T (p.Tyr946=)
|
|
|
NM_001372044.2(SHANK3):c.2842C>G (p.Pro948Ala)
|
|
|
NM_001372044.2(SHANK3):c.2847C>T (p.Gly949=)
|
|
|
NM_001372044.2(SHANK3):c.2849C>G (p.Ala950Gly)
|
rs1326735946
|
|
NM_001372044.2(SHANK3):c.2849C>T (p.Ala950Val)
|
|
|
NM_001372044.2(SHANK3):c.2869dup (p.Tyr957fs)
|
|
|
NM_001372044.2(SHANK3):c.2871T>A (p.Tyr957Ter)
|
|
|
NM_001372044.2(SHANK3):c.2877G>C (p.Glu959Asp)
|
|
|
NM_001372044.2(SHANK3):c.2881C>T (p.Gln961Ter)
|
rs2083274586
|
|
NM_001372044.2(SHANK3):c.2891C>G (p.Ala964Gly)
|
|
|
NM_001372044.2(SHANK3):c.2894G>C (p.Arg965Pro)
|
|
|
NM_001372044.2(SHANK3):c.2897C>A (p.Ser966Tyr)
|
|
|
NM_001372044.2(SHANK3):c.290+6C>T
|
|
|
NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)
|
|
|
NM_001372044.2(SHANK3):c.2920del (p.Ala974fs)
|
rs1555910013
|
|
NM_001372044.2(SHANK3):c.2951dup (p.Pro985fs)
|
rs1603447111
|
|
NM_001372044.2(SHANK3):c.2957_2971del (p.Ala986_Pro990del)
|
rs1048276757
|
|
NM_001372044.2(SHANK3):c.2958G>C (p.Ala986=)
|
|
|
NM_001372044.2(SHANK3):c.2962A>C (p.Thr988Pro)
|
|
|
NM_001372044.2(SHANK3):c.2962_2996del (p.Thr988fs)
|
rs2083275468
|
|
NM_001372044.2(SHANK3):c.2967G>A (p.Pro989=)
|
|
|
NM_001372044.2(SHANK3):c.2970del (p.Glu991fs)
|
|
|
NM_001372044.2(SHANK3):c.2971_2979dup (p.Pro993_Lys994insGluArgPro)
|
|
|
NM_001372044.2(SHANK3):c.2972A>C (p.Glu991Ala)
|
|
|
NM_001372044.2(SHANK3):c.2974C>T (p.Arg992Ter)
|
rs1327088096
|
|
NM_001372044.2(SHANK3):c.2981A>C (p.Lys994Thr)
|
|
|
NM_001372044.2(SHANK3):c.2986C>T (p.Arg996Trp)
|
rs2083275877
|
|
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs)
|
rs2083275928
|
|
NM_001372044.2(SHANK3):c.3001G>A (p.Gly1001Ser)
|
|
|
NM_001372044.2(SHANK3):c.3004C>T (p.Pro1002Ser)
|
|
|
NM_001372044.2(SHANK3):c.3008A>C (p.Asp1003Ala)
|
|
|
NM_001372044.2(SHANK3):c.3010A>C (p.Ser1004Arg)
|
|
|
NM_001372044.2(SHANK3):c.3012C>T (p.Ser1004=)
|
|
|
NM_001372044.2(SHANK3):c.3014C>T (p.Pro1005Leu)
|
rs2083276245
|
|
NM_001372044.2(SHANK3):c.3019G>A (p.Ala1007Thr)
|
|
|
NM_001372044.2(SHANK3):c.3021C>A (p.Ala1007=)
|
rs1367333501
|
|
NM_001372044.2(SHANK3):c.3032C>T (p.Ala1011Val)
|
rs1569114967
|
|
NM_001372044.2(SHANK3):c.3033C>G (p.Ala1011=)
|
|
|
NM_001372044.2(SHANK3):c.3069_3076dup (p.Lys1026fs)
|
rs1555910034
|
|
NM_001372044.2(SHANK3):c.3074G>A (p.Arg1025His)
|
rs1231632189
|
|
NM_001372044.2(SHANK3):c.3082C>T (p.Pro1028Ser)
|
|
|
NM_001372044.2(SHANK3):c.3083C>G (p.Pro1028Arg)
|
rs779406129
|
|
NM_001372044.2(SHANK3):c.3128C>A (p.Ala1043Asp)
|
rs2146829940
|
|
NM_001372044.2(SHANK3):c.312C>A (p.Ala104=)
|
|
|
NM_001372044.2(SHANK3):c.3130C>A (p.Leu1044Met)
|
|
|
NM_001372044.2(SHANK3):c.3130C>G (p.Leu1044Val)
|
|
|
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)
|
rs530255181
|
|
NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs)
|
rs1555910048
|
|
NM_001372044.2(SHANK3):c.3151C>T (p.Pro1051Ser)
|
rs2146830003
|
|
NM_001372044.2(SHANK3):c.3153C>A (p.Pro1051=)
|
rs1183722632
|
|
NM_001372044.2(SHANK3):c.3153del (p.Gly1052fs)
|
rs886041869
|
|
NM_001372044.2(SHANK3):c.3159_3179delinsGGCAG (p.Gly1054fs)
|
rs2146830032
|
|
NM_001372044.2(SHANK3):c.315G>A (p.Ala105=)
|
|
|
NM_001372044.2(SHANK3):c.3162_3165del (p.Phe1056fs)
|
rs2083278122
|
|
NM_001372044.2(SHANK3):c.3173G>C (p.Arg1058Pro)
|
rs1000364280
|
|
NM_001372044.2(SHANK3):c.3175G>T (p.Glu1059Ter)
|
rs2083278313
|
|
NM_001372044.2(SHANK3):c.3187_3188insGCTCTCCCCGA (p.Thr1063fs)
|
|
|
NM_001372044.2(SHANK3):c.3189_3202del (p.His1064fs)
|
|
|
NM_001372044.2(SHANK3):c.318C>G (p.Pro106=)
|
|
|
NM_001372044.2(SHANK3):c.3191A>C (p.His1064Pro)
|
|
|
NM_001372044.2(SHANK3):c.3195C>A (p.Arg1065=)
|
rs1569115121
|
|
NM_001372044.2(SHANK3):c.3197G>C (p.Gly1066Ala)
|
|
|
NM_001372044.2(SHANK3):c.319G>T (p.Val107Leu)
|
rs2082908926
|
|
NM_001372044.2(SHANK3):c.3202C>A (p.Arg1068Ser)
|
rs2083278623
|
|
NM_001372044.2(SHANK3):c.3209del (p.Gly1070fs)
|
rs2083278717
|
|
NM_001372044.2(SHANK3):c.3216C>A (p.Leu1072=)
|
|
|
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr)
|
rs1555910078
|
|
NM_001372044.2(SHANK3):c.3233A>C (p.Asp1078Ala)
|
rs2146830229
|
|
NM_001372044.2(SHANK3):c.3250T>G (p.Phe1084Val)
|
|
|
NM_001372044.2(SHANK3):c.3251del (p.Phe1084fs)
|
|
|
NM_001372044.2(SHANK3):c.3257G>C (p.Gly1086Ala)
|
rs767058690
|
|
NM_001372044.2(SHANK3):c.3270_3280del (p.Lys1091fs)
|
rs2083279575
|
|
NM_001372044.2(SHANK3):c.3277C>T (p.Arg1093Trp)
|
|
|
NM_001372044.2(SHANK3):c.3279G>C (p.Arg1093=)
|
rs2146830361
|
|
NM_001372044.2(SHANK3):c.3286del (p.Glu1096fs)
|
|
|
NM_001372044.2(SHANK3):c.3297C>T (p.Arg1099=)
|
|
|
NM_001372044.2(SHANK3):c.3302C>T (p.Ser1101Phe)
|
rs1555910094
|
|
NM_001372044.2(SHANK3):c.3304A>G (p.Thr1102Ala)
|
|
|
NM_001372044.2(SHANK3):c.330C>T (p.Ala110=)
|
|
|
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs)
|
rs2083280147
|
|
NM_001372044.2(SHANK3):c.3322G>A (p.Gly1108Arg)
|
rs1555910097
|
|
NM_001372044.2(SHANK3):c.3325_3349del (p.Ala1109fs)
|
rs1603447122
|
|
NM_001372044.2(SHANK3):c.3325del (p.Ala1109fs)
|
rs2083280269
|
|
NM_001372044.2(SHANK3):c.3327C>A (p.Ala1109=)
|
|
|
NM_001372044.2(SHANK3):c.3339C>T (p.Ser1113=)
|
|
|
NM_001372044.2(SHANK3):c.3341C>A (p.Ala1114Asp)
|
|
|
NM_001372044.2(SHANK3):c.3345C>T (p.Pro1115=)
|
|
|
NM_001372044.2(SHANK3):c.334C>T (p.Gln112Ter)
|
rs547796852
|
|
NM_001372044.2(SHANK3):c.3352G>C (p.Asp1118His)
|
|
|
NM_001372044.2(SHANK3):c.3356T>C (p.Leu1119Pro)
|
|
|
NM_001372044.2(SHANK3):c.335A>C (p.Gln112Pro)
|
|
|
NM_001372044.2(SHANK3):c.3360A>G (p.Pro1120=)
|
|
|
NM_001372044.2(SHANK3):c.3374C>T (p.Ser1125Phe)
|
rs1603447124
|
|
NM_001372044.2(SHANK3):c.3381C>T (p.Ser1127=)
|
|
|
NM_001372044.2(SHANK3):c.3387C>T (p.Asp1129=)
|
|
|
NM_001372044.2(SHANK3):c.3388del (p.Glu1130fs)
|
rs2146830613
|
|
NM_001372044.2(SHANK3):c.3389del (p.Glu1130fs)
|
|
|
NM_001372044.2(SHANK3):c.3390G>T (p.Glu1130Asp)
|
|
|
NM_001372044.2(SHANK3):c.3398T>C (p.Leu1133Pro)
|
rs2146830640
|
|
NM_001372044.2(SHANK3):c.3401G>A (p.Gly1134Glu)
|
|
|
NM_001372044.2(SHANK3):c.3404C>G (p.Thr1135Ser)
|
|
|
NM_001372044.2(SHANK3):c.3408C>G (p.Gly1136=)
|
rs748205250
|
|
NM_001372044.2(SHANK3):c.3411del (p.Thr1138fs)
|
rs1131691816
|
|
NM_001372044.2(SHANK3):c.3425A>C (p.Asp1142Ala)
|
|
|
NM_001372044.2(SHANK3):c.3440_3455dup (p.Lys1153fs)
|
rs2083281950
|
|
NM_001372044.2(SHANK3):c.3443C>G (p.Pro1148Arg)
|
|
|
NM_001372044.2(SHANK3):c.3443C>T (p.Pro1148Leu)
|
|
|
NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
|
|
|
NM_001372044.2(SHANK3):c.3443del (p.Pro1148fs)
|
|
|
NM_001372044.2(SHANK3):c.3455T>A (p.Leu1152Gln)
|
|
|
NM_001372044.2(SHANK3):c.3460C>T (p.Pro1154Ser)
|
|
|
NM_001372044.2(SHANK3):c.3480_3484del (p.Ser1160fs)
|
rs1064793925
|
|
NM_001372044.2(SHANK3):c.3502_3535del (p.Phe1168fs)
|
|
|
NM_001372044.2(SHANK3):c.351C>T (p.Ala117=)
|
rs974149501
|
|
NM_001372044.2(SHANK3):c.3526C>G (p.Pro1176Ala)
|
rs1385920913
|
|
NM_001372044.2(SHANK3):c.3539G>T (p.Ser1180Ile)
|
|
|
NM_001372044.2(SHANK3):c.3561G>T (p.Leu1187=)
|
rs2083283470
|
|
NM_001372044.2(SHANK3):c.3566C>T (p.Ala1189Val)
|
|
|
NM_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)
|
|
|
NM_001372044.2(SHANK3):c.356A>G (p.Asn119Ser)
|
|
|
NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter)
|
rs387906932
|
|
NM_001372044.2(SHANK3):c.3592G>C (p.Ala1198Pro)
|
rs2146831056
|
|
NM_001372044.2(SHANK3):c.3595C>T (p.Pro1199Ser)
|
rs2146831070
|
|
NM_001372044.2(SHANK3):c.3596C>T (p.Pro1199Leu)
|
|
|
NM_001372044.2(SHANK3):c.3597C>G (p.Pro1199=)
|
|
|
NM_001372044.2(SHANK3):c.3597del (p.Ser1200fs)
|
rs2083283892
|
|
NM_001372044.2(SHANK3):c.3626C>A (p.Pro1209His)
|
|
|
NM_001372044.2(SHANK3):c.3626C>G (p.Pro1209Arg)
|
|
|
NM_001372044.2(SHANK3):c.3635dup (p.Asp1212fs)
|
|
|
NM_001372044.2(SHANK3):c.3636C>G (p.Asp1212Glu)
|
rs2146831187
|
|
NM_001372044.2(SHANK3):c.3646C>G (p.Pro1216Ala)
|
|
|
NM_001372044.2(SHANK3):c.3648C>T (p.Pro1216=)
|
|
|
NM_001372044.2(SHANK3):c.3656T>C (p.Val1219Ala)
|
|
|
NM_001372044.2(SHANK3):c.3661G>A (p.Val1221Ile)
|
rs2146831275
|
|
NM_001372044.2(SHANK3):c.3664C>T (p.Gln1222Ter)
|
rs751604326
|
|
NM_001372044.2(SHANK3):c.3679dup (p.Glu1227fs)
|
|
|
NM_001372044.2(SHANK3):c.3689C>G (p.Ser1230Cys)
|
|
|
NM_001372044.2(SHANK3):c.3690C>T (p.Ser1230=)
|
|
|
NM_001372044.2(SHANK3):c.3708C>A (p.Phe1236Leu)
|
|
|
NM_001372044.2(SHANK3):c.3710C>T (p.Ser1237Phe)
|
|
|
NM_001372044.2(SHANK3):c.3712C>T (p.Pro1238Ser)
|
|
|
NM_001372044.2(SHANK3):c.3736G>C (p.Val1246Leu)
|
|
|
NM_001372044.2(SHANK3):c.3760A>T (p.Lys1254Ter)
|
rs771528741
|
|
NM_001372044.2(SHANK3):c.3765C>A (p.Val1255=)
|
|
|
NM_001372044.2(SHANK3):c.3766C>A (p.Pro1256Thr)
|
rs200188413
|
|
NM_001372044.2(SHANK3):c.3777G>A (p.Glu1259=)
|
rs763158627
|
|
NM_001372044.2(SHANK3):c.3790G>C (p.Glu1264Gln)
|
|
|
NM_001372044.2(SHANK3):c.3793G>A (p.Asp1265Asn)
|
|
|
NM_001372044.2(SHANK3):c.3806T>C (p.Met1269Thr)
|
rs797045960
|
|
NM_001372044.2(SHANK3):c.3832C>T (p.Leu1278=)
|
|
|
NM_001372044.2(SHANK3):c.3848del (p.Gly1283fs)
|
rs1569115756
|
|
NM_001372044.2(SHANK3):c.3857_3858insG (p.Val1287fs)
|
rs2083287837
|
|
NM_001372044.2(SHANK3):c.3865dup (p.Ala1289fs)
|
rs2146831793
|
|
NM_001372044.2(SHANK3):c.3867C>T (p.Ala1289=)
|
|
|
NM_001372044.2(SHANK3):c.3867dup (p.Thr1290fs)
|
rs2083287955
|
|
NM_001372044.2(SHANK3):c.3868A>T (p.Thr1290Ser)
|
|
|
NM_001372044.2(SHANK3):c.3870C>T (p.Thr1290=)
|
|
|
NM_001372044.2(SHANK3):c.3880C>G (p.Gln1294Glu)
|
|
|
NM_001372044.2(SHANK3):c.3899G>A (p.Gly1300Glu)
|
|
|
NM_001372044.2(SHANK3):c.3903G>T (p.Gly1301=)
|
rs772120494
|
|
NM_001372044.2(SHANK3):c.3907G>T (p.Glu1303Ter)
|
rs761720914
|
|
NM_001372044.2(SHANK3):c.3912G>A (p.Glu1304=)
|
rs1264964864
|
|
NM_001372044.2(SHANK3):c.3916C>G (p.Arg1306Gly)
|
rs765080418
|
|
NM_001372044.2(SHANK3):c.3928C>T (p.Pro1310Ser)
|
|
|
NM_001372044.2(SHANK3):c.3929C>A (p.Pro1310Gln)
|
|
|
NM_001372044.2(SHANK3):c.3929C>G (p.Pro1310Arg)
|
|
|
NM_001372044.2(SHANK3):c.3941C>T (p.Pro1314Leu)
|
rs753314270
|
|
NM_001372044.2(SHANK3):c.3943G>C (p.Ala1315Pro)
|
|
|
NM_001372044.2(SHANK3):c.3949dup (p.Met1317fs)
|
|
|
NM_001372044.2(SHANK3):c.3950T>G (p.Met1317Arg)
|
|
|
NM_001372044.2(SHANK3):c.3952_3964del (p.Gln1318fs)
|
rs2146832070
|
|
NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
|
|
|
NM_001372044.2(SHANK3):c.3976_3988del (p.Leu1326fs)
|
rs1555910178
|
|
NM_001372044.2(SHANK3):c.3977_3989del (p.Leu1326fs)
|
rs1555910182
|
|
NM_001372044.2(SHANK3):c.3988dup (p.Arg1330fs)
|
rs1603447135
|
|
NM_001372044.2(SHANK3):c.3989G>A (p.Arg1330Gln)
|
|
|
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)
|
rs886041238
|
|
NM_001372044.2(SHANK3):c.3991G>T (p.Ala1331Ser)
|
|
|
NM_001372044.2(SHANK3):c.3991dup (p.Ala1331fs)
|
rs1603447136
|
|
NM_001372044.2(SHANK3):c.3996_4000dup (p.Pro1334fs)
|
rs2146832177
|
|
NM_001372044.2(SHANK3):c.399G>T (p.Pro133=)
|
|
|
NM_001372044.2(SHANK3):c.4013dup (p.Ala1339fs)
|
rs1555910193
|
|
NM_001372044.2(SHANK3):c.4018G>C (p.Asp1340His)
|
|
|
NM_001372044.2(SHANK3):c.4019A>T (p.Asp1340Val)
|
rs374885308
|
|
NM_001372044.2(SHANK3):c.4020C>T (p.Asp1340=)
|
|
|
NM_001372044.2(SHANK3):c.4027C>T (p.Pro1343Ser)
|
|
|
NM_001372044.2(SHANK3):c.4036G>C (p.Gly1346Arg)
|
rs1433943238
|
|
NM_001372044.2(SHANK3):c.4040G>A (p.Ser1347Asn)
|
rs2146832312
|
|
NM_001372044.2(SHANK3):c.4052A>C (p.Glu1351Ala)
|
|
|
NM_001372044.2(SHANK3):c.4061T>G (p.Leu1354Arg)
|
|
|
NM_001372044.2(SHANK3):c.4077C>T (p.Asn1359=)
|
|
|
NM_001372044.2(SHANK3):c.4081C>T (p.Pro1361Ser)
|
rs1219979283
|
|
NM_001372044.2(SHANK3):c.4088C>T (p.Ala1363Val)
|
|
|
NM_001372044.2(SHANK3):c.4090C>T (p.Gln1364Ter)
|
rs1038102194
|
|
NM_001372044.2(SHANK3):c.409G>C (p.Gly137Arg)
|
|
|
NM_001372044.2(SHANK3):c.4105G>C (p.Asp1369His)
|
|
|
NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del)
|
rs1462066038
|
|
NM_001372044.2(SHANK3):c.4108del (p.Glu1370fs)
|
rs1555910212
|
|
NM_001372044.2(SHANK3):c.4132C>T (p.Arg1378Ter)
|
rs1238131472
|
|
NM_001372044.2(SHANK3):c.4144G>T (p.Val1382Leu)
|
|
|
NM_001372044.2(SHANK3):c.4150C>T (p.Pro1384Ser)
|
rs1482351235
|
|
NM_001372044.2(SHANK3):c.4156del (p.Glu1386fs)
|
rs1555910219
|
|
NM_001372044.2(SHANK3):c.415G>A (p.Ala139Thr)
|
rs2082909895
|
|
NM_001372044.2(SHANK3):c.4160_4161del (p.Glu1387fs)
|
rs1603447139
|
|
NM_001372044.2(SHANK3):c.4169A>C (p.Asn1390Thr)
|
|
|
NM_001372044.2(SHANK3):c.4170C>G (p.Asn1390Lys)
|
|
|
NM_001372044.2(SHANK3):c.4173G>A (p.Gly1391=)
|
|
|
NM_001372044.2(SHANK3):c.4181T>G (p.Leu1394Arg)
|
|
|
NM_001372044.2(SHANK3):c.4193del (p.Leu1398fs)
|
rs2083292400
|
|
NM_001372044.2(SHANK3):c.4198G>A (p.Gly1400Ser)
|
|
|
NM_001372044.2(SHANK3):c.4224G>T (p.Val1408=)
|
|
|
NM_001372044.2(SHANK3):c.4254_4255del (p.Ser1418fs)
|
rs1057519395
|
|
NM_001372044.2(SHANK3):c.4257_4260del (p.Glu1419fs)
|
rs1569116167
|
|
NM_001372044.2(SHANK3):c.4261C>A (p.Pro1421Thr)
|
rs752824629
|
|
NM_001372044.2(SHANK3):c.4264C>T (p.Pro1422Ser)
|
rs1398660041
|
|
NM_001372044.2(SHANK3):c.4265C>G (p.Pro1422Arg)
|
|
|
NM_001372044.2(SHANK3):c.4265dup (p.Ala1423fs)
|
|
|
NM_001372044.2(SHANK3):c.4268C>G (p.Ala1423Gly)
|
rs756226608
|
|
NM_001372044.2(SHANK3):c.4269C>T (p.Ala1423=)
|
|
|
NM_001372044.2(SHANK3):c.4271C>T (p.Pro1424Leu)
|
|
|
NM_001372044.2(SHANK3):c.4274_4275del (p.Glu1425fs)
|
rs2146832853
|
|
NM_001372044.2(SHANK3):c.4284C>T (p.Ala1428=)
|
|
|
NM_001372044.2(SHANK3):c.4290_4291del (p.Val1432fs)
|
rs2083293616
|
|
NM_001372044.2(SHANK3):c.4311_4312del (p.Arg1438fs)
|
rs1603447144
|
|
NM_001372044.2(SHANK3):c.4313G>A (p.Arg1438His)
|
|
|
NM_001372044.2(SHANK3):c.431A>G (p.Asp144Gly)
|
rs1005062028
|
|
NM_001372044.2(SHANK3):c.432T>C (p.Asp144=)
|
|
|
NM_001372044.2(SHANK3):c.4334_4335del (p.Leu1445fs)
|
rs1064793514
|
|
NM_001372044.2(SHANK3):c.4341del (p.Thr1448fs)
|
|
|
NM_001372044.2(SHANK3):c.4362_4363del (p.Ser1455fs)
|
|
|
NM_001372044.2(SHANK3):c.4396G>T (p.Glu1466Ter)
|
|
|
NM_001372044.2(SHANK3):c.4401C>G (p.Leu1467=)
|
rs906873431
|
|
NM_001372044.2(SHANK3):c.4401_4404del (p.Asp1469fs)
|
rs2146833064
|
|
NM_001372044.2(SHANK3):c.4428C>T (p.Asp1476=)
|
|
|
NM_001372044.2(SHANK3):c.4438T>C (p.Phe1480Leu)
|
rs1444005320
|
|
NM_001372044.2(SHANK3):c.4454del (p.Pro1485fs)
|
rs1131691727
|
|
NM_001372044.2(SHANK3):c.4477C>T (p.Leu1493Phe)
|
|
|
NM_001372044.2(SHANK3):c.4502C>T (p.Pro1501Leu)
|
|
|
NM_001372044.2(SHANK3):c.4508C>T (p.Thr1503Ile)
|
rs767385272
|
|
NM_001372044.2(SHANK3):c.4556_4559dup (p.Gln1520fs)
|
rs2083297043
|
|
NM_001372044.2(SHANK3):c.4557C>T (p.Ala1519=)
|
|
|
NM_001372044.2(SHANK3):c.4589C>T (p.Ala1530Val)
|
|
|
NM_001372044.2(SHANK3):c.4613dup (p.Arg1539fs)
|
|
|
NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter)
|
rs1064795759
|
|
NM_001372044.2(SHANK3):c.4634G>A (p.Arg1545Lys)
|
rs2146833546
|
|
NM_001372044.2(SHANK3):c.4647G>A (p.Trp1549Ter)
|
rs2146833570
|
|
NM_001372044.2(SHANK3):c.4656C>T (p.Pro1552=)
|
|
|
NM_001372044.2(SHANK3):c.4658T>C (p.Val1553Ala)
|
rs552048572
|
|
NM_001372044.2(SHANK3):c.4662G>A (p.Glu1554=)
|
|
|
NM_001372044.2(SHANK3):c.4666C>T (p.Arg1556Trp)
|
|
|
NM_001372044.2(SHANK3):c.4690G>T (p.Asp1564Tyr)
|
rs373588048
|
|
NM_001372044.2(SHANK3):c.4691A>G (p.Asp1564Gly)
|
|
|
NM_001372044.2(SHANK3):c.4696C>T (p.Pro1566Ser)
|
|
|
NM_001372044.2(SHANK3):c.4703_4704del (p.Val1568fs)
|
|
|
NM_001372044.2(SHANK3):c.4709G>C (p.Ser1570Thr)
|
|
|
NM_001372044.2(SHANK3):c.4717A>G (p.Ser1573Gly)
|
|
|
NM_001372044.2(SHANK3):c.4719C>T (p.Ser1573=)
|
|
|
NM_001372044.2(SHANK3):c.4730A>G (p.Gln1577Arg)
|
|
|
NM_001372044.2(SHANK3):c.4732C>T (p.Gln1578Ter)
|
rs2146833747
|
|
NM_001372044.2(SHANK3):c.473C>T (p.Thr158Met)
|
|
|
NM_001372044.2(SHANK3):c.4740_4746dup (p.Thr1583fs)
|
rs2083299114
|
|
NM_001372044.2(SHANK3):c.4747_4748del (p.Thr1583fs)
|
rs1555910299
|
|
NM_001372044.2(SHANK3):c.4750C>T (p.Arg1584Cys)
|
|
|
NM_001372044.2(SHANK3):c.4756C>T (p.Leu1586=)
|
rs2146833802
|
|
NM_001372044.2(SHANK3):c.475C>T (p.Pro159Ser)
|
|
|
NM_001372044.2(SHANK3):c.4765dup (p.Glu1589fs)
|
rs1569116595
|
|
NM_001372044.2(SHANK3):c.4773TGG[1] (p.Gly1593del)
|
rs766299545
|
|
NM_001372044.2(SHANK3):c.477C>T (p.Pro159=)
|
|
|
NM_001372044.2(SHANK3):c.4784del (p.Gly1595fs)
|
rs1555910304
|
|
NM_001372044.2(SHANK3):c.4790del (p.Leu1597fs)
|
rs886041430
|
|
NM_001372044.2(SHANK3):c.4795-59C>T
|
rs181332679
|
|
NM_001372044.2(SHANK3):c.4813C>T (p.Pro1605Ser)
|
rs1569116634
|
|
NM_001372044.2(SHANK3):c.4820C>A (p.Ala1607Glu)
|
|
|
NM_001372044.2(SHANK3):c.4835_4839dup (p.Leu1615fs)
|
rs2146843340
|
|
NM_001372044.2(SHANK3):c.4836dup (p.Ser1613fs)
|
rs1555910895
|
|
NM_001372044.2(SHANK3):c.4853T>C (p.Leu1618Pro)
|
|
|
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs)
|
rs1603447373
|
|
NM_001372044.2(SHANK3):c.4878_4879insGCACC (p.Pro1627fs)
|
rs2083358123
|
|
NM_001372044.2(SHANK3):c.4889C>T (p.Pro1630Leu)
|
rs1329146990
|
|
NM_001372044.2(SHANK3):c.4901C>T (p.Ala1634Val)
|
|
|
NM_001372044.2(SHANK3):c.4902C>A (p.Ala1634=)
|
|
|
NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)
|
|
|
NM_001372044.2(SHANK3):c.4904C>T (p.Ser1635Leu)
|
|
|
NM_001372044.2(SHANK3):c.4907dup (p.Tyr1636Ter)
|
|
|
NM_001372044.2(SHANK3):c.4908C>G (p.Tyr1636Ter)
|
|
|
NM_001372044.2(SHANK3):c.4910C>T (p.Ser1637Leu)
|
rs1064796872
|
|
NM_001372044.2(SHANK3):c.494+2T>G
|
rs1603445997
|
|
NM_001372044.2(SHANK3):c.4944A>T (p.Arg1648Ser)
|
|
|
NM_001372044.2(SHANK3):c.4952C>G (p.Pro1651Arg)
|
|
|
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter)
|
rs1569097392
|
|
NM_001372044.2(SHANK3):c.4978G>T (p.Glu1660Ter)
|
rs1603447380
|
|
NM_001372044.2(SHANK3):c.4983G>C (p.Arg1661=)
|
|
|
NM_001372044.2(SHANK3):c.4987G>T (p.Glu1663Ter)
|
|
|
NM_001372044.2(SHANK3):c.4990G>A (p.Gly1664Arg)
|
|
|
NM_001372044.2(SHANK3):c.5003G>A (p.Gly1668Asp)
|
|
|
NM_001372044.2(SHANK3):c.500A>G (p.Tyr167Cys)
|
rs2146768702
|
|
NM_001372044.2(SHANK3):c.5011_5012del (p.Gly1671fs)
|
rs1385882031
|
|
NM_001372044.2(SHANK3):c.5016A>C (p.Ala1672=)
|
|
|
NM_001372044.2(SHANK3):c.503A>G (p.Lys168Arg)
|
|
|
NM_001372044.2(SHANK3):c.5043dup (p.Thr1682fs)
|
|
|
NM_001372044.2(SHANK3):c.5046dup (p.Ile1683fs)
|
rs1603447381
|
|
NM_001372044.2(SHANK3):c.5057C>G (p.Ser1686Trp)
|
rs2083359701
|
|
NM_001372044.2(SHANK3):c.506G>A (p.Arg169Gln)
|
rs2082921353
|
|
NM_001372044.2(SHANK3):c.5074_5077dup (p.His1693fs)
|
|
|
NM_001372044.2(SHANK3):c.5086A>T (p.Lys1696Ter)
|
rs1085307954
|
|
NM_001372044.2(SHANK3):c.5097C>T (p.Arg1699=)
|
|
|
NM_001372044.2(SHANK3):c.5107C>A (p.Arg1703Ser)
|
rs2083360139
|
|
NM_001372044.2(SHANK3):c.511G>C (p.Val171Leu)
|
|
|
NM_001372044.2(SHANK3):c.5130C>T (p.Arg1710=)
|
|
|
NM_001372044.2(SHANK3):c.5131_5146dup (p.Pro1716fs)
|
rs886041467
|
|
NM_001372044.2(SHANK3):c.5135C>T (p.Pro1712Leu)
|
|
|
NM_001372044.2(SHANK3):c.5136C>G (p.Pro1712=)
|
|
|
NM_001372044.2(SHANK3):c.5153C>T (p.Pro1718Leu)
|
|
|
NM_001372044.2(SHANK3):c.5166dup (p.Gly1723fs)
|
|
|
NM_001372044.2(SHANK3):c.5170CCCGGC[1] (p.1724PG[1])
|
|
|
NM_001372044.2(SHANK3):c.5170CCCGGC[3] (p.1724PG[3])
|
rs1054399689
|
|
NM_001372044.2(SHANK3):c.5176C>T (p.Pro1726Ser)
|
|
|
NM_001372044.2(SHANK3):c.5182G>A (p.Ala1728Thr)
|
|
|
NM_001372044.2(SHANK3):c.5184C>T (p.Ala1728=)
|
|
|
NM_001372044.2(SHANK3):c.5188G>A (p.Gly1730Ser)
|
|
|
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter)
|
rs2083361357
|
|
NM_001372044.2(SHANK3):c.5209C>G (p.Gln1737Glu)
|
rs1294272918
|
|
NM_001372044.2(SHANK3):c.5209C>T (p.Gln1737Ter)
|
rs1294272918
|
|
NM_001372044.2(SHANK3):c.521A>G (p.Gln174Arg)
|
rs2146768744
|
|
NM_001372044.2(SHANK3):c.5224C>G (p.Leu1742Val)
|
rs1036266314
|
|
NM_001372044.2(SHANK3):c.5225T>C (p.Leu1742Pro)
|
rs2146843947
|
|
NM_001372044.2(SHANK3):c.5227T>C (p.Trp1743Arg)
|
rs2083361660
|
|
NM_001372044.2(SHANK3):c.5239G>T (p.Asp1747Tyr)
|
rs1131691485
|
|
NM_001372044.2(SHANK3):c.5251T>C (p.Trp1751Arg)
|
rs1131691469
|
|
NM_001372044.2(SHANK3):c.5252G>A (p.Trp1751Ter)
|
rs1603447383
|
|
NM_001372044.2(SHANK3):c.5253G>A (p.Trp1751Ter)
|
|
|
NM_001372044.2(SHANK3):c.525C>G (p.Asn175Lys)
|
|
|
NM_001372044.2(SHANK3):c.5281C>A (p.Arg1761Ser)
|
rs2146844008
|
|
NM_001372044.2(SHANK3):c.5287C>T (p.Arg1763Cys)
|
|
|
NM_001372044.2(SHANK3):c.5306T>G (p.Ile1769Arg)
|
|
|
NM_001372044.2(SHANK3):c.5307_5310del (p.Ile1769fs)
|
rs2083362101
|
|
NM_001372044.2(SHANK3):c.5311G>A (p.Gly1771Ser)
|
rs1555910944
|
|
NM_001372044.2(SHANK3):c.5324_5334del (p.Pro1775fs)
|
|
|
NM_001372044.2(SHANK3):c.5325C>T (p.Pro1775=)
|
|
|
NM_001372044.2(SHANK3):c.5346C>T (p.Phe1782=)
|
|
|
NM_001372044.2(SHANK3):c.5354T>C (p.Leu1785Pro)
|
rs1555910948
|
|
NM_001372044.2(SHANK3):c.5362dup (p.Thr1788fs)
|
rs2083362624
|
|
NM_001372044.2(SHANK3):c.5372G>A (p.Gly1791Asp)
|
rs2146844132
|
|
NM_001372044.2(SHANK3):c.5396C>G (p.Ala1799Gly)
|
|
|
NM_001372044.2(SHANK3):c.5400C>G (p.Leu1800=)
|
|
|
NM_001372044.2(SHANK3):c.5417G>A (p.Ser1806Asn)
|
|
|
NM_001372044.2(SHANK3):c.542A>C (p.Gln181Pro)
|
rs1555905307
|
|
NM_001372044.2(SHANK3):c.567-190C>T
|
rs80149769
|
|
NM_001372044.2(SHANK3):c.567-3C>T
|
rs867118013
|
|
NM_001372044.2(SHANK3):c.574A>T (p.Lys192Ter)
|
rs2082934908
|
|
NM_001372044.2(SHANK3):c.575A>G (p.Lys192Arg)
|
|
|
NM_001372044.2(SHANK3):c.592G>A (p.Val198Ile)
|
|
|
NM_001372044.2(SHANK3):c.613A>C (p.Lys205Gln)
|
|
|
NM_001372044.2(SHANK3):c.616G>T (p.Val206Leu)
|
|
|
NM_001372044.2(SHANK3):c.622C>T (p.Arg208Cys)
|
|
|
NM_001372044.2(SHANK3):c.623G>A (p.Arg208His)
|
|
|
NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala)
|
rs397514705
|
|
NM_001372044.2(SHANK3):c.675+38C>A
|
rs115592847
|
|
NM_001372044.2(SHANK3):c.677G>A (p.Cys226Tyr)
|
|
|
NM_001372044.2(SHANK3):c.682_683del (p.Leu228fs)
|
|
|
NM_001372044.2(SHANK3):c.714G>A (p.Thr238=)
|
|
|
NM_001372044.2(SHANK3):c.756_757del (p.Phe253fs)
|
|
|
NM_001372044.2(SHANK3):c.781G>A (p.Ala261Thr)
|
|
|
NM_001372044.2(SHANK3):c.783C>T (p.Ala261=)
|
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|
NM_001372044.2(SHANK3):c.799C>T (p.Arg267Cys)
|
|
|
NM_001372044.2(SHANK3):c.800G>A (p.Arg267His)
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|
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NM_001372044.2(SHANK3):c.813G>A (p.Ala271=)
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|
NM_001372044.2(SHANK3):c.869G>T (p.Arg290Leu)
|
rs775487427
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NM_001372044.2(SHANK3):c.870C>T (p.Arg290=)
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NM_001372044.2(SHANK3):c.871G>A (p.Gly291Ser)
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NM_001372044.2(SHANK3):c.878C>T (p.Thr293Ile)
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rs2146772569
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NM_001372044.2(SHANK3):c.887A>G (p.Tyr296Cys)
|
rs2082939036
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NM_001372044.2(SHANK3):c.895G>A (p.Ala299Thr)
|
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NM_001372044.2(SHANK3):c.8T>C (p.Leu3Pro)
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NM_001372044.2(SHANK3):c.901G>C (p.Gly301Arg)
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NM_001372044.2(SHANK3):c.938A>G (p.His313Arg)
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NM_001372044.2(SHANK3):c.940G>A (p.Asp314Asn)
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NM_001372044.2(SHANK3):c.957del (p.Ile320fs)
|
rs2146772777
|
|
NM_001372044.2(SHANK3):c.973G>T (p.Gly325Cys)
|
rs1131691463
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NM_001372044.2(SHANK3):c.974G>T (p.Gly325Val)
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NM_001372044.2(SHANK3):c.991C>G (p.Gln331Glu)
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NM_001372044.2(SHANK3):c.993G>T (p.Gln331His)
|
rs1131691464
|
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NM_001372044.2(SHANK3):c.995+3G>A
|
|
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NM_001372044.2(SHANK3):c.996-5C>T
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NM_001372044.2:c.288+1G>A
|
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NM_033517.1(SHANK3):c.2613C>G (p.Tyr871Ter)
|
rs1001153999
|
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NM_033517.1(SHANK3):c.3379delinsCC (p.Ser1127fs)
|
rs1555910140
|
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NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs)
|
rs1555910143
|
|
NM_033517.1(SHANK3):c.3637dup (p.His1213fs)
|
rs1555910162
|
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NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
NM_033517.1(SHANK3):c.48G>A (p.Pro16=)
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|
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NM_033517.1(SHANK3):c.59A>G (p.Gln20Arg)
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|
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NM_033517.1:c.37G>C
|
rs1196868406
|
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NM_033517.1:c.4338G>C
|
rs2146833382
|
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NM_033517.1:c.891C>T
|
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