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.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.1113-8C>T
|
rs9628236
|
0.00917
|
NM_001372044.2(SHANK3):c.3762G>A (p.Lys1254=)
|
rs145196448
|
0.00666
|
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.1470C>T (p.Ala490=)
|
rs116756129
|
0.00455
|
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.996-27C>G
|
rs181741673
|
0.00409
|
NM_001372044.2(SHANK3):c.3588C>T (p.Ser1196=)
|
rs200077311
|
0.00387
|
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr)
|
rs749130556
|
0.00319
|
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.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.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.3114G>C (p.Ala1038=)
|
rs772152761
|
0.00113
|
NM_001372044.2(SHANK3):c.1635C>T (p.Ala545=)
|
rs780922475
|
0.00111
|
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.696C>T (p.Ala232=)
|
rs201013911
|
0.00053
|
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_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.3876C>T (p.Asn1292=)
|
rs371876840
|
0.00028
|
NM_001372044.2(SHANK3):c.4170C>T (p.Asn1390=)
|
rs558643743
|
0.00022
|
NM_001372044.2(SHANK3):c.4013C>T (p.Pro1338Leu)
|
rs757572910
|
0.00017
|
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.1201G>A (p.Ala401Thr)
|
rs371238756
|
0.00010
|
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.2148C>T (p.Val716=)
|
rs754669007
|
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.4581C>T (p.Ala1527=)
|
rs530029288
|
0.00004
|
NM_001372044.2(SHANK3):c.2296C>T (p.Leu766=)
|
rs201094179
|
0.00003
|
NM_001372044.2(SHANK3):c.5160C>T (p.Pro1720=)
|
rs751652089
|
0.00003
|
NM_001372044.2(SHANK3):c.3144C>T (p.Ser1048=)
|
rs760688077
|
0.00001
|
NM_001372044.2(SHANK3):c.3487C>T (p.Pro1163Ser)
|
rs565975948
|
0.00001
|
NM_001372044.2(SHANK3):c.4950C>T (p.Ala1650=)
|
rs1169261374
|
0.00001
|
GRCh37/hg19 22q13.33(chr22:51068560-51124975)x3
|
|
|
GRCh37/hg19 22q13.33(chr22:51137117-51171693)x0
|
|
|
NM_001372044.2(SHANK3):c.1113-207G>T
|
rs9616933
|
|
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.160_165= (p.Arg54_Ala55=)
|
rs566877404
|
|
NM_001372044.2(SHANK3):c.1689-3C>T
|
rs565420289
|
|
NM_001372044.2(SHANK3):c.1802+22C>G
|
rs11704325
|
|
NM_001372044.2(SHANK3):c.1802+22C>T
|
rs11704325
|
|
NM_001372044.2(SHANK3):c.2219+82C>G
|
rs76179018
|
|
NM_001372044.2(SHANK3):c.2220-195G>C
|
rs4824145
|
|
NM_001372044.2(SHANK3):c.2220-196_2220-195insCCCAC
|
rs947564448
|
|
NM_001372044.2(SHANK3):c.2268C>G (p.Pro756=)
|
rs61731160
|
|
NM_001372044.2(SHANK3):c.2540+50_2540+51insTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGG
|
rs780075591
|
|
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)
|
rs530255181
|
|
NM_001372044.2(SHANK3):c.3766C>A (p.Pro1256Thr)
|
rs200188413
|
|