NM_001372044.2(SHANK3):c.959T>C (p.Ile320Thr)
|
rs9616915
|
0.46763
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NM_001372044.2(SHANK3):c.1113-8C>T
|
rs9628236
|
0.00917
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NM_001372044.2(SHANK3):c.5160C>T (p.Pro1720=)
|
rs751652089
|
0.00003
|
NM_001372044.2(SHANK3):c.766C>T (p.Arg256Cys)
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rs1030097250
|
0.00003
|
NM_001372044.2(SHANK3):c.3985C>T (p.Pro1329Ser)
|
rs748123356
|
0.00002
|
NM_001372044.2(SHANK3):c.1144G>T (p.Ala382Ser)
|
rs1234645097
|
0.00001
|
NM_001372044.2(SHANK3):c.1312G>A (p.Gly438Ser)
|
rs368073391
|
0.00001
|
NM_001372044.2(SHANK3):c.2455+1G>A
|
rs1396379503
|
0.00001
|
NM_001372044.2(SHANK3):c.3852C>T (p.Leu1284=)
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rs753765611
|
0.00001
|
NM_001372044.2(SHANK3):c.4600G>A (p.Gly1534Arg)
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rs1440735830
|
0.00001
|
GRCh37/hg19 22q13.33(chr22:51123491-51144365)
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GRCh37/hg19 22q13.33(chr22:51132804-51144365)
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NM_001372044.2(SHANK3):c.1012G>A (p.Val338Met)
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NM_001372044.2(SHANK3):c.1040A>G (p.Tyr347Cys)
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rs1555905749
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NM_001372044.2(SHANK3):c.1065C>G (p.Asn355Lys)
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rs200400333
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NM_001372044.2(SHANK3):c.1181C>T (p.Ala394Val)
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rs2124372229
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NM_001372044.2(SHANK3):c.1235C>G
|
rs869312715
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NM_001372044.2(SHANK3):c.1255G>T (p.Val419Leu)
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rs1057519406
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NM_001372044.2(SHANK3):c.1294C>T (p.Arg432Ter)
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NM_001372044.2(SHANK3):c.1336C>T (p.Gln446Ter)
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rs2146794652
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NM_001372044.2(SHANK3):c.1529+46G>A
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rs2146795039
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NM_001372044.2(SHANK3):c.1530-280dup
|
rs745950788
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NM_001372044.2(SHANK3):c.155G>A (p.Gly52Glu)
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NM_001372044.2(SHANK3):c.2228C>G (p.Pro743Arg)
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NM_001372044.2(SHANK3):c.2300+4_2300+12del
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NM_001372044.2(SHANK3):c.2324+1del
|
rs2146817773
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NM_001372044.2(SHANK3):c.2365C>T (p.Leu789=)
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rs1447758824
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NM_001372044.2(SHANK3):c.2410_2413del (p.Asp804fs)
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NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro)
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rs2083272071
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NM_001372044.2(SHANK3):c.2869dup (p.Tyr957fs)
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NM_001372044.2(SHANK3):c.2871T>A (p.Tyr957Ter)
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NM_001372044.2(SHANK3):c.2881C>T (p.Gln961Ter)
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rs2083274586
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NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)
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NM_001372044.2(SHANK3):c.2970del (p.Glu991fs)
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NM_001372044.2(SHANK3):c.3014C>T (p.Pro1005Leu)
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rs2083276245
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NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)
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rs530255181
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NM_001372044.2(SHANK3):c.3187_3188insGCTCTCCCCGA (p.Thr1063fs)
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NM_001372044.2(SHANK3):c.3189_3202del (p.His1064fs)
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NM_001372044.2(SHANK3):c.319G>T (p.Val107Leu)
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rs2082908926
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NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr)
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rs1555910078
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NM_001372044.2(SHANK3):c.3251del (p.Phe1084fs)
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NM_001372044.2(SHANK3):c.3286del (p.Glu1096fs)
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NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs)
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rs2083280147
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NM_001372044.2(SHANK3):c.335A>C (p.Gln112Pro)
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NM_001372044.2(SHANK3):c.3388del (p.Glu1130fs)
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rs2146830613
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NM_001372044.2(SHANK3):c.3389del (p.Glu1130fs)
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NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
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NM_001372044.2(SHANK3):c.3443del (p.Pro1148fs)
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NM_001372044.2(SHANK3):c.3502_3535del (p.Phe1168fs)
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NM_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)
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NM_001372044.2(SHANK3):c.3597C>G (p.Pro1199=)
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NM_001372044.2(SHANK3):c.3635dup (p.Asp1212fs)
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NM_001372044.2(SHANK3):c.3689C>G (p.Ser1230Cys)
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NM_001372044.2(SHANK3):c.3777G>A (p.Glu1259=)
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rs763158627
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NM_001372044.2(SHANK3):c.3848del (p.Gly1283fs)
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rs1569115756
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NM_001372044.2(SHANK3):c.3857_3858insG (p.Val1287fs)
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rs2083287837
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NM_001372044.2(SHANK3):c.3865dup (p.Ala1289fs)
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rs2146831793
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NM_001372044.2(SHANK3):c.3867dup (p.Thr1290fs)
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rs2083287955
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NM_001372044.2(SHANK3):c.3949dup (p.Met1317fs)
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NM_001372044.2(SHANK3):c.3952_3964del (p.Gln1318fs)
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rs2146832070
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NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
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NM_001372044.2(SHANK3):c.3988dup (p.Arg1330fs)
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rs1603447135
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NM_001372044.2(SHANK3):c.3989G>A (p.Arg1330Gln)
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NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)
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rs886041238
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NM_001372044.2(SHANK3):c.4052A>C (p.Glu1351Ala)
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|
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NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del)
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rs1462066038
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NM_001372044.2(SHANK3):c.4108del (p.Glu1370fs)
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rs1555910212
|
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NM_001372044.2(SHANK3):c.4150C>T (p.Pro1384Ser)
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rs1482351235
|
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NM_001372044.2(SHANK3):c.4156del (p.Glu1386fs)
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rs1555910219
|
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NM_001372044.2(SHANK3):c.415G>A (p.Ala139Thr)
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rs2082909895
|
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NM_001372044.2(SHANK3):c.4254_4255del (p.Ser1418fs)
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rs1057519395
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NM_001372044.2(SHANK3):c.4265dup (p.Ala1423fs)
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NM_001372044.2(SHANK3):c.4274_4275del (p.Glu1425fs)
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rs2146832853
|
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NM_001372044.2(SHANK3):c.4290_4291del (p.Val1432fs)
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rs2083293616
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NM_001372044.2(SHANK3):c.4311_4312del (p.Arg1438fs)
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rs1603447144
|
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NM_001372044.2(SHANK3):c.4341del (p.Thr1448fs)
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NM_001372044.2(SHANK3):c.4362_4363del (p.Ser1455fs)
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NM_001372044.2(SHANK3):c.4396G>T (p.Glu1466Ter)
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NM_001372044.2(SHANK3):c.4477C>T (p.Leu1493Phe)
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NM_001372044.2(SHANK3):c.4613dup (p.Arg1539fs)
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NM_001372044.2(SHANK3):c.4690G>T (p.Asp1564Tyr)
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rs373588048
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NM_001372044.2(SHANK3):c.4703_4704del (p.Val1568fs)
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NM_001372044.2(SHANK3):c.4730A>G (p.Gln1577Arg)
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NM_001372044.2(SHANK3):c.4732C>T (p.Gln1578Ter)
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rs2146833747
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NM_001372044.2(SHANK3):c.4889C>T (p.Pro1630Leu)
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rs1329146990
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NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)
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NM_001372044.2(SHANK3):c.4907dup (p.Tyr1636Ter)
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NM_001372044.2(SHANK3):c.4908C>G (p.Tyr1636Ter)
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NM_001372044.2(SHANK3):c.494+2T>G
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rs1603445997
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NM_001372044.2(SHANK3):c.4978G>T (p.Glu1660Ter)
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rs1603447380
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NM_001372044.2(SHANK3):c.4987G>T (p.Glu1663Ter)
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NM_001372044.2(SHANK3):c.5057C>G (p.Ser1686Trp)
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rs2083359701
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NM_001372044.2(SHANK3):c.5074_5077dup (p.His1693fs)
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NM_001372044.2(SHANK3):c.5107C>A (p.Arg1703Ser)
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rs2083360139
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NM_001372044.2(SHANK3):c.5166dup (p.Gly1723fs)
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|
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NM_001372044.2(SHANK3):c.5307_5310del (p.Ile1769fs)
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rs2083362101
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NM_001372044.2(SHANK3):c.542A>C (p.Gln181Pro)
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rs1555905307
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NM_001372044.2(SHANK3):c.574A>T (p.Lys192Ter)
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rs2082934908
|
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NM_001372044.2(SHANK3):c.575A>G (p.Lys192Arg)
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NM_001372044.2(SHANK3):c.592G>A (p.Val198Ile)
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NM_001372044.2(SHANK3):c.623G>A (p.Arg208His)
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NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala)
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rs397514705
|
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NM_001372044.2(SHANK3):c.781G>A (p.Ala261Thr)
|
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NM_001372044.2(SHANK3):c.800G>A (p.Arg267His)
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NM_001372044.2(SHANK3):c.938A>G (p.His313Arg)
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NM_001372044.2(SHANK3):c.974G>T (p.Gly325Val)
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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.3424_3425del (p.Leu1142fs)
|
rs1555910143
|
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NM_033517.1(SHANK3):c.3637dup (p.His1213fs)
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rs1555910162
|
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NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
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NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|