NM_001372044.2(SHANK3):c.959T>C (p.Ile320Thr)
|
rs9616915
|
0.46763
|
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.3222C>T (p.Tyr1074=)
|
rs144470529
|
0.01743
|
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.3372C>T (p.Pro1124=)
|
rs200572899
|
0.00421
|
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.5185C>A (p.Pro1729Thr)
|
rs749130556
|
0.00319
|
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.474G>T (p.Thr158=)
|
rs530240325
|
0.00137
|
NM_001372044.2(SHANK3):c.2436C>T (p.Ala812=)
|
rs61729465
|
0.00131
|
NM_001372044.2(SHANK3):c.3114G>C (p.Ala1038=)
|
rs772152761
|
0.00113
|
NM_001372044.2(SHANK3):c.3559C>T (p.Leu1187=)
|
rs376858991
|
0.00107
|
NM_001372044.2(SHANK3):c.5177C>T (p.Pro1726Leu)
|
rs932743656
|
0.00099
|
NM_001372044.2(SHANK3):c.4410C>T (p.Thr1470=)
|
rs376136109
|
0.00094
|
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys)
|
rs201483867
|
0.00081
|
NM_001372044.2(SHANK3):c.4223T>G (p.Val1408Gly)
|
rs200087210
|
0.00064
|
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.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.4038C>T (p.Gly1346=)
|
rs367676023
|
0.00050
|
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu)
|
rs73174429
|
0.00046
|
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.3705T>C (p.Ala1235=)
|
rs576803553
|
0.00033
|
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.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.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.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.2422G>A (p.Ala808Thr)
|
rs376095125
|
0.00009
|
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=)
|
rs747708688
|
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.2745G>A (p.Pro915=)
|
rs1453397190
|
0.00004
|
NM_001372044.2(SHANK3):c.4083A>G (p.Pro1361=)
|
rs371543035
|
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.5160C>T (p.Pro1720=)
|
rs751652089
|
0.00003
|
NM_001372044.2(SHANK3):c.3507C>A (p.Ile1169=)
|
rs746818601
|
0.00002
|
NM_001372044.2(SHANK3):c.3760A>G (p.Lys1254Glu)
|
rs771528741
|
0.00002
|
NM_001372044.2(SHANK3):c.4667G>A (p.Arg1556Gln)
|
rs1216527991
|
0.00002
|
NM_001372044.2(SHANK3):c.1251T>C (p.Asp417=)
|
rs1377234347
|
0.00001
|
NM_001372044.2(SHANK3):c.1832G>A (p.Arg611Gln)
|
rs767437118
|
0.00001
|
NM_001372044.2(SHANK3):c.2261C>T (p.Pro754Leu)
|
rs1257874744
|
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.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.3527C>T (p.Pro1176Leu)
|
rs768527232
|
0.00001
|
NM_001372044.2(SHANK3):c.3779G>A (p.Arg1260Gln)
|
rs752694316
|
0.00001
|
NM_001372044.2(SHANK3):c.4006G>A (p.Gly1336Ser)
|
rs752227380
|
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.492G>A (p.Glu164=)
|
rs1377264220
|
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.1052T>C (p.Met351Thr)
|
|
|
NM_001372044.2(SHANK3):c.1138C>T (p.Arg380Cys)
|
rs2082981691
|
|
NM_001372044.2(SHANK3):c.1177A>G (p.Thr393Ala)
|
|
|
NM_001372044.2(SHANK3):c.1235C>T (p.Thr412Ile)
|
|
|
NM_001372044.2(SHANK3):c.1307C>G (p.Pro436Arg)
|
|
|
NM_001372044.2(SHANK3):c.1547G>C (p.Gly516Ala)
|
|
|
NM_001372044.2(SHANK3):c.1619_1629dup (p.Ser544fs)
|
|
|
NM_001372044.2(SHANK3):c.1689-3C>T
|
rs565420289
|
|
NM_001372044.2(SHANK3):c.1695C>G (p.Ile565Met)
|
|
|
NM_001372044.2(SHANK3):c.1776G>A (p.Thr592=)
|
|
|
NM_001372044.2(SHANK3):c.1792G>C (p.Asp598His)
|
|
|
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.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.2268C>G (p.Pro756=)
|
rs61731160
|
|
NM_001372044.2(SHANK3):c.2289A>C (p.Thr763=)
|
|
|
NM_001372044.2(SHANK3):c.2301-5C>T
|
rs181480774
|
|
NM_001372044.2(SHANK3):c.2310C>T (p.Ser770=)
|
|
|
NM_001372044.2(SHANK3):c.2416G>A (p.Ala806Thr)
|
|
|
NM_001372044.2(SHANK3):c.2452_2453del (p.Arg818fs)
|
rs2083233502
|
|
NM_001372044.2(SHANK3):c.2478del (p.Ala827fs)
|
rs2083233723
|
|
NM_001372044.2(SHANK3):c.2487T>G (p.Ile829Met)
|
|
|
NM_001372044.2(SHANK3):c.2543T>C (p.Leu848Ser)
|
|
|
NM_001372044.2(SHANK3):c.2545C>T (p.Arg849Trp)
|
|
|
NM_001372044.2(SHANK3):c.2612G>A (p.Arg871His)
|
|
|
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.2703G>A (p.Ala901=)
|
|
|
NM_001372044.2(SHANK3):c.2717A>G (p.Asp906Gly)
|
|
|
NM_001372044.2(SHANK3):c.2720C>T (p.Ser907Leu)
|
|
|
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.2838C>T (p.Tyr946=)
|
|
|
NM_001372044.2(SHANK3):c.2847C>T (p.Gly949=)
|
|
|
NM_001372044.2(SHANK3):c.2849C>T (p.Ala950Val)
|
|
|
NM_001372044.2(SHANK3):c.2894G>C (p.Arg965Pro)
|
|
|
NM_001372044.2(SHANK3):c.290+6C>T
|
|
|
NM_001372044.2(SHANK3):c.2962A>C (p.Thr988Pro)
|
|
|
NM_001372044.2(SHANK3):c.2972A>C (p.Glu991Ala)
|
|
|
NM_001372044.2(SHANK3):c.2981A>C (p.Lys994Thr)
|
|
|
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.3019G>A (p.Ala1007Thr)
|
|
|
NM_001372044.2(SHANK3):c.3032C>T (p.Ala1011Val)
|
rs1569114967
|
|
NM_001372044.2(SHANK3):c.3130C>A (p.Leu1044Met)
|
|
|
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)
|
rs530255181
|
|
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.3250T>G (p.Phe1084Val)
|
|
|
NM_001372044.2(SHANK3):c.3304A>G (p.Thr1102Ala)
|
|
|
NM_001372044.2(SHANK3):c.330C>T (p.Ala110=)
|
|
|
NM_001372044.2(SHANK3):c.3352G>C (p.Asp1118His)
|
|
|
NM_001372044.2(SHANK3):c.3356T>C (p.Leu1119Pro)
|
|
|
NM_001372044.2(SHANK3):c.3360A>G (p.Pro1120=)
|
|
|
NM_001372044.2(SHANK3):c.3381C>T (p.Ser1127=)
|
|
|
NM_001372044.2(SHANK3):c.3387C>T (p.Asp1129=)
|
|
|
NM_001372044.2(SHANK3):c.3425A>C (p.Asp1142Ala)
|
|
|
NM_001372044.2(SHANK3):c.3443C>G (p.Pro1148Arg)
|
|
|
NM_001372044.2(SHANK3):c.3455T>A (p.Leu1152Gln)
|
|
|
NM_001372044.2(SHANK3):c.3460C>T (p.Pro1154Ser)
|
|
|
NM_001372044.2(SHANK3):c.3596C>T (p.Pro1199Leu)
|
|
|
NM_001372044.2(SHANK3):c.3656T>C (p.Val1219Ala)
|
|
|
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.3766C>A (p.Pro1256Thr)
|
rs200188413
|
|
NM_001372044.2(SHANK3):c.3793G>A (p.Asp1265Asn)
|
|
|
NM_001372044.2(SHANK3):c.3832C>T (p.Leu1278=)
|
|
|
NM_001372044.2(SHANK3):c.3867C>T (p.Ala1289=)
|
|
|
NM_001372044.2(SHANK3):c.3868A>T (p.Thr1290Ser)
|
|
|
NM_001372044.2(SHANK3):c.3899G>A (p.Gly1300Glu)
|
|
|
NM_001372044.2(SHANK3):c.3912G>A (p.Glu1304=)
|
rs1264964864
|
|
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.3977_3989del (p.Leu1326fs)
|
rs1555910182
|
|
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)
|
rs886041238
|
|
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.4077C>T (p.Asn1359=)
|
|
|
NM_001372044.2(SHANK3):c.4088C>T (p.Ala1363Val)
|
|
|
NM_001372044.2(SHANK3):c.4144G>T (p.Val1382Leu)
|
|
|
NM_001372044.2(SHANK3):c.4170C>G (p.Asn1390Lys)
|
|
|
NM_001372044.2(SHANK3):c.4265C>G (p.Pro1422Arg)
|
|
|
NM_001372044.2(SHANK3):c.4269C>T (p.Ala1423=)
|
|
|
NM_001372044.2(SHANK3):c.4284C>T (p.Ala1428=)
|
|
|
NM_001372044.2(SHANK3):c.4313G>A (p.Arg1438His)
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NM_001372044.2(SHANK3):c.432T>C (p.Asp144=)
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NM_001372044.2(SHANK3):c.4401C>G (p.Leu1467=)
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rs906873431
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NM_001372044.2(SHANK3):c.4428C>T (p.Asp1476=)
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NM_001372044.2(SHANK3):c.4502C>T (p.Pro1501Leu)
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NM_001372044.2(SHANK3):c.4589C>T (p.Ala1530Val)
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NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter)
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rs1064795759
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NM_001372044.2(SHANK3):c.4656C>T (p.Pro1552=)
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NM_001372044.2(SHANK3):c.4662G>A (p.Glu1554=)
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NM_001372044.2(SHANK3):c.4666C>T (p.Arg1556Trp)
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NM_001372044.2(SHANK3):c.4691A>G (p.Asp1564Gly)
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NM_001372044.2(SHANK3):c.4696C>T (p.Pro1566Ser)
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NM_001372044.2(SHANK3):c.4765dup (p.Glu1589fs)
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rs1569116595
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NM_001372044.2(SHANK3):c.4902C>A (p.Ala1634=)
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NM_001372044.2(SHANK3):c.4910C>T (p.Ser1637Leu)
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rs1064796872
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NM_001372044.2(SHANK3):c.4944A>T (p.Arg1648Ser)
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NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter)
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rs1569097392
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NM_001372044.2(SHANK3):c.4983G>C (p.Arg1661=)
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NM_001372044.2(SHANK3):c.5003G>A (p.Gly1668Asp)
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NM_001372044.2(SHANK3):c.5153C>T (p.Pro1718Leu)
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NM_001372044.2(SHANK3):c.5170CCCGGC[1] (p.1724PG[1])
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NM_001372044.2(SHANK3):c.5170CCCGGC[3] (p.1724PG[3])
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rs1054399689
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NM_001372044.2(SHANK3):c.5176C>T (p.Pro1726Ser)
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NM_001372044.2(SHANK3):c.5184C>T (p.Ala1728=)
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NM_001372044.2(SHANK3):c.5188G>A (p.Gly1730Ser)
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NM_001372044.2(SHANK3):c.5253G>A (p.Trp1751Ter)
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NM_001372044.2(SHANK3):c.5346C>T (p.Phe1782=)
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NM_001372044.2(SHANK3):c.5362dup (p.Thr1788fs)
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rs2083362624
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NM_001372044.2(SHANK3):c.5400C>G (p.Leu1800=)
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NM_001372044.2(SHANK3):c.5417G>A (p.Ser1806Asn)
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NM_001372044.2(SHANK3):c.567-3C>T
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rs867118013
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NM_001372044.2(SHANK3):c.870C>T (p.Arg290=)
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NM_001372044.2(SHANK3):c.895G>A (p.Ala299Thr)
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NM_001372044.2(SHANK3):c.991C>G (p.Gln331Glu)
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NM_001372044.2(SHANK3):c.995+3G>A
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NM_033517.1(SHANK3):c.3379delinsCC (p.Ser1127fs)
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rs1555910140
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NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
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rs762292772
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NM_033517.1(SHANK3):c.59A>G (p.Gln20Arg)
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