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.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.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.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.2184T>C (p.Gly728=)
|
rs747708688
|
0.00005
|
NM_001372044.2(SHANK3):c.4392C>T (p.Ser1464=)
|
rs767710495
|
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.2745G>A (p.Pro915=)
|
rs1453397190
|
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.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.1112+4C>T
|
rs376588105
|
0.00002
|
NM_001372044.2(SHANK3):c.2678A>C (p.Gln893Pro)
|
rs1020480936
|
0.00002
|
NM_001372044.2(SHANK3):c.3616G>C (p.Val1206Leu)
|
rs201641613
|
0.00002
|
NM_001372044.2(SHANK3):c.3985C>T (p.Pro1329Ser)
|
rs748123356
|
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.1175A>G (p.Gln392Arg)
|
rs765089490
|
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.2239G>A (p.Gly747Arg)
|
rs763010846
|
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.2455+1G>A
|
rs1396379503
|
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.3353A>C (p.Asp1118Ala)
|
rs1064793828
|
0.00001
|
NM_001372044.2(SHANK3):c.3487C>T (p.Pro1163Ser)
|
rs565975948
|
0.00001
|
NM_001372044.2(SHANK3):c.3784T>A (p.Ser1262Thr)
|
rs946579020
|
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.4233G>A (p.Pro1411=)
|
rs369083529
|
0.00001
|
NM_001372044.2(SHANK3):c.4520C>T (p.Pro1507Leu)
|
rs752413653
|
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.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
|
NM_001372044.2(SHANK3):c.1037T>G (p.Phe346Cys)
|
|
|
NM_001372044.2(SHANK3):c.1087C>T (p.His363Tyr)
|
rs2146773272
|
|
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>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.1390C>T (p.Pro464Ser)
|
rs2146794712
|
|
NM_001372044.2(SHANK3):c.1413C>T (p.Leu471=)
|
|
|
NM_001372044.2(SHANK3):c.1511C>T (p.Ala504Val)
|
|
|
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.1551del (p.Gly518fs)
|
rs2124372231
|
|
NM_001372044.2(SHANK3):c.1594G>A (p.Ala532Thr)
|
rs1053116057
|
|
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.1688+203C>T
|
rs374568483
|
|
NM_001372044.2(SHANK3):c.1689-3C>T
|
rs565420289
|
|
NM_001372044.2(SHANK3):c.1733T>C (p.Ile578Thr)
|
rs1333345587
|
|
NM_001372044.2(SHANK3):c.1794C>A (p.Asp598Glu)
|
rs2146800699
|
|
NM_001372044.2(SHANK3):c.1802+22C>G
|
rs11704325
|
|
NM_001372044.2(SHANK3):c.1802+22C>T
|
rs11704325
|
|
NM_001372044.2(SHANK3):c.1827C>A (p.Asp609Glu)
|
|
|
NM_001372044.2(SHANK3):c.2087-2_2093del
|
rs2146808453
|
|
NM_001372044.2(SHANK3):c.2219+162G>T
|
rs148828263
|
|
NM_001372044.2(SHANK3):c.2219+82C>G
|
rs76179018
|
|
NM_001372044.2(SHANK3):c.2220-195G>C
|
rs4824145
|
|
NM_001372044.2(SHANK3):c.2220-8_2220-6del
|
rs1603446766
|
|
NM_001372044.2(SHANK3):c.2236G>A (p.Asp746Asn)
|
|
|
NM_001372044.2(SHANK3):c.2268C>G (p.Pro756=)
|
rs61731160
|
|
NM_001372044.2(SHANK3):c.2294C>T (p.Thr765Ile)
|
rs2146810295
|
|
NM_001372044.2(SHANK3):c.2300G>A (p.Arg767His)
|
rs1064796528
|
|
NM_001372044.2(SHANK3):c.2301-5C>T
|
rs181480774
|
|
NM_001372044.2(SHANK3):c.2329G>T (p.Glu777Ter)
|
rs1131691960
|
|
NM_001372044.2(SHANK3):c.2353A>G (p.Lys785Glu)
|
|
|
NM_001372044.2(SHANK3):c.2361G>C (p.Glu787Asp)
|
|
|
NM_001372044.2(SHANK3):c.2455+1G>C
|
|
|
NM_001372044.2(SHANK3):c.2459C>A (p.Thr820Asn)
|
|
|
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.2545C>G (p.Arg849Gly)
|
rs766205731
|
|
NM_001372044.2(SHANK3):c.2553del (p.Ile852fs)
|
rs1064796526
|
|
NM_001372044.2(SHANK3):c.2588A>G (p.Lys863Arg)
|
|
|
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.2652G>C (p.Glu884Asp)
|
|
|
NM_001372044.2(SHANK3):c.2673G>C (p.Pro891=)
|
rs1569114751
|
|
NM_001372044.2(SHANK3):c.2728C>T (p.Pro910Ser)
|
|
|
NM_001372044.2(SHANK3):c.2769C>G (p.Tyr923Ter)
|
rs1191090323
|
|
NM_001372044.2(SHANK3):c.2842C>G (p.Pro948Ala)
|
|
|
NM_001372044.2(SHANK3):c.2849C>G (p.Ala950Gly)
|
rs1326735946
|
|
NM_001372044.2(SHANK3):c.2877G>C (p.Glu959Asp)
|
|
|
NM_001372044.2(SHANK3):c.2891C>G (p.Ala964Gly)
|
|
|
NM_001372044.2(SHANK3):c.2897C>A (p.Ser966Tyr)
|
|
|
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.2974C>T (p.Arg992Ter)
|
rs1327088096
|
|
NM_001372044.2(SHANK3):c.2986C>T (p.Arg996Trp)
|
rs2083275877
|
|
NM_001372044.2(SHANK3):c.3001G>A (p.Gly1001Ser)
|
|
|
NM_001372044.2(SHANK3):c.3004C>T (p.Pro1002Ser)
|
|
|
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.3133G>T (p.Ala1045Ser)
|
rs530255181
|
|
NM_001372044.2(SHANK3):c.3153C>A (p.Pro1051=)
|
rs1183722632
|
|
NM_001372044.2(SHANK3):c.3153del (p.Gly1052fs)
|
rs886041869
|
|
NM_001372044.2(SHANK3):c.3202C>A (p.Arg1068Ser)
|
rs2083278623
|
|
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr)
|
rs1555910078
|
|
NM_001372044.2(SHANK3):c.3257G>C (p.Gly1086Ala)
|
rs767058690
|
|
NM_001372044.2(SHANK3):c.3325_3349del (p.Ala1109fs)
|
rs1603447122
|
|
NM_001372044.2(SHANK3):c.334C>T (p.Gln112Ter)
|
rs547796852
|
|
NM_001372044.2(SHANK3):c.3374C>T (p.Ser1125Phe)
|
rs1603447124
|
|
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.3411del (p.Thr1138fs)
|
rs1131691816
|
|
NM_001372044.2(SHANK3):c.3443C>T (p.Pro1148Leu)
|
|
|
NM_001372044.2(SHANK3):c.3460C>T (p.Pro1154Ser)
|
|
|
NM_001372044.2(SHANK3):c.3480_3484del (p.Ser1160fs)
|
rs1064793925
|
|
NM_001372044.2(SHANK3):c.351C>T (p.Ala117=)
|
rs974149501
|
|
NM_001372044.2(SHANK3):c.356A>G (p.Asn119Ser)
|
|
|
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.3626C>A (p.Pro1209His)
|
|
|
NM_001372044.2(SHANK3):c.3626C>G (p.Pro1209Arg)
|
|
|
NM_001372044.2(SHANK3):c.3636C>G (p.Asp1212Glu)
|
rs2146831187
|
|
NM_001372044.2(SHANK3):c.3646C>G (p.Pro1216Ala)
|
|
|
NM_001372044.2(SHANK3):c.3661G>A (p.Val1221Ile)
|
rs2146831275
|
|
NM_001372044.2(SHANK3):c.3712C>T (p.Pro1238Ser)
|
|
|
NM_001372044.2(SHANK3):c.3760A>T (p.Lys1254Ter)
|
rs771528741
|
|
NM_001372044.2(SHANK3):c.3766C>A (p.Pro1256Thr)
|
rs200188413
|
|
NM_001372044.2(SHANK3):c.3793G>A (p.Asp1265Asn)
|
|
|
NM_001372044.2(SHANK3):c.3903G>T (p.Gly1301=)
|
rs772120494
|
|
NM_001372044.2(SHANK3):c.3916C>G (p.Arg1306Gly)
|
rs765080418
|
|
NM_001372044.2(SHANK3):c.3928C>T (p.Pro1310Ser)
|
|
|
NM_001372044.2(SHANK3):c.3941C>T (p.Pro1314Leu)
|
rs753314270
|
|
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.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.4036G>C (p.Gly1346Arg)
|
rs1433943238
|
|
NM_001372044.2(SHANK3):c.4040G>A (p.Ser1347Asn)
|
rs2146832312
|
|
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.4132C>T (p.Arg1378Ter)
|
rs1238131472
|
|
NM_001372044.2(SHANK3):c.4160_4161del (p.Glu1387fs)
|
rs1603447139
|
|
NM_001372044.2(SHANK3):c.4169A>C (p.Asn1390Thr)
|
|
|
NM_001372044.2(SHANK3):c.4198G>A (p.Gly1400Ser)
|
|
|
NM_001372044.2(SHANK3):c.4224G>T (p.Val1408=)
|
|
|
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.4268C>G (p.Ala1423Gly)
|
rs756226608
|
|
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.4334_4335del (p.Leu1445fs)
|
rs1064793514
|
|
NM_001372044.2(SHANK3):c.4438T>C (p.Phe1480Leu)
|
rs1444005320
|
|
NM_001372044.2(SHANK3):c.4454del (p.Pro1485fs)
|
rs1131691727
|
|
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.4717A>G (p.Ser1573Gly)
|
|
|
NM_001372044.2(SHANK3):c.4747_4748del (p.Thr1583fs)
|
rs1555910299
|
|
NM_001372044.2(SHANK3):c.4750C>T (p.Arg1584Cys)
|
|
|
NM_001372044.2(SHANK3):c.4773TGG[1] (p.Gly1593del)
|
rs766299545
|
|
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.4874_4878dup (p.Pro1627fs)
|
rs1603447373
|
|
NM_001372044.2(SHANK3):c.4910C>T (p.Ser1637Leu)
|
rs1064796872
|
|
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter)
|
rs1569097392
|
|
NM_001372044.2(SHANK3):c.4990G>A (p.Gly1664Arg)
|
|
|
NM_001372044.2(SHANK3):c.500A>G (p.Tyr167Cys)
|
rs2146768702
|
|
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.5086A>T (p.Lys1696Ter)
|
rs1085307954
|
|
NM_001372044.2(SHANK3):c.511G>C (p.Val171Leu)
|
|
|
NM_001372044.2(SHANK3):c.5131_5146dup (p.Pro1716fs)
|
rs886041467
|
|
NM_001372044.2(SHANK3):c.5170CCCGGC[3] (p.1724PG[3])
|
rs1054399689
|
|
NM_001372044.2(SHANK3):c.5182G>A (p.Ala1728Thr)
|
|
|
NM_001372044.2(SHANK3):c.5209C>G (p.Gln1737Glu)
|
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.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.5287C>T (p.Arg1763Cys)
|
|
|
NM_001372044.2(SHANK3):c.5306T>G (p.Ile1769Arg)
|
|
|
NM_001372044.2(SHANK3):c.5311G>A (p.Gly1771Ser)
|
rs1555910944
|
|
NM_001372044.2(SHANK3):c.5354T>C (p.Leu1785Pro)
|
rs1555910948
|
|
NM_001372044.2(SHANK3):c.5372G>A (p.Gly1791Asp)
|
rs2146844132
|
|
NM_001372044.2(SHANK3):c.5396C>G (p.Ala1799Gly)
|
|
|
NM_001372044.2(SHANK3):c.567-190C>T
|
rs80149769
|
|
NM_001372044.2(SHANK3):c.613A>C (p.Lys205Gln)
|
|
|
NM_001372044.2(SHANK3):c.622C>T (p.Arg208Cys)
|
|
|
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.799C>T (p.Arg267Cys)
|
|
|
NM_001372044.2(SHANK3):c.869G>T (p.Arg290Leu)
|
rs775487427
|
|
NM_001372044.2(SHANK3):c.878C>T (p.Thr293Ile)
|
rs2146772569
|
|
NM_001372044.2(SHANK3):c.940G>A (p.Asp314Asn)
|
|
|
NM_001372044.2(SHANK3):c.973G>T (p.Gly325Cys)
|
rs1131691463
|
|
NM_001372044.2(SHANK3):c.993G>T (p.Gln331His)
|
rs1131691464
|
|
NM_033517.1(SHANK3):c.2613C>G (p.Tyr871Ter)
|
rs1001153999
|
|
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs)
|
rs1555910143
|
|
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
NM_033517.1:c.37G>C
|
rs1196868406
|
|
NM_033517.1:c.4338G>C
|
rs2146833382
|
|