NM_001349338.3(FOXP1):c.179A>G (p.Gln60Arg)
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rs374060287
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0.00005
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GRCh37/hg19 12p13.1(chr12:13595477-13814290)x1
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GRCh37/hg19 12p13.1(chr12:14042568-14133113)x1
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GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
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GRCh37/hg19 20p13(chr20:378136-547319)x1
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NCBI36/hg18 12p13.1(chr12:13526418-13654145)x1
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NCBI36/hg18 6p21.32(chr6:33451137-33543925)x1
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NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter)
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rs1555112396
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NM_000834.5(GRIN2B):c.1496G>A (p.Gly499Glu)
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rs1949425904
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NM_000834.5(GRIN2B):c.1555C>G (p.Arg519Gly)
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rs774592932
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NM_000834.5(GRIN2B):c.1627G>C (p.Gly543Arg)
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rs1949419811
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NM_000834.5(GRIN2B):c.1664G>T (p.Ser555Ile)
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rs1949369220
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NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)
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rs1057519004
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NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val)
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rs1555110843
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NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met)
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rs796052571
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NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys)
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rs1565474582
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NM_000834.5(GRIN2B):c.2060C>T (p.Pro687Leu)
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rs1555103986
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NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
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NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser)
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rs1591612317
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NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His)
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rs1555103971
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NM_000834.5(GRIN2B):c.2237G>A (p.Cys746Tyr)
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rs1948686092
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NM_000834.5(GRIN2B):c.2341C>G (p.Leu781Val)
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rs1064796752
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NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu)
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rs1064794979
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NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys)
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rs1085307547
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NM_000834.5(GRIN2B):c.2776C>T (p.Arg926Ter)
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rs1555102536
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NM_001032221.6(STXBP1):c.125C>A (p.Ser42Tyr)
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rs1840655911
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NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)
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rs886039435
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NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser)
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rs1841869298
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NM_001032221.6(STXBP1):c.1473_1475del (p.Glu491del)
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rs1841944944
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NM_001032221.6(STXBP1):c.1642A>G (p.Asn548Asp)
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rs1057523381
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NM_001032221.6(STXBP1):c.1702+1G>A
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rs796053377
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NM_001032221.6(STXBP1):c.224A>G (p.Tyr75Cys)
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rs796053352
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NM_001032221.6(STXBP1):c.37+3A>C
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rs796053379
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NM_001032221.6(STXBP1):c.37+3A>T
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rs796053379
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NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup)
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rs1841284648
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NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
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rs794727970
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NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)
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rs587784453
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NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile)
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rs1057524795
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NM_001032221.6(STXBP1):c.902+4A>G
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rs1554777733
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NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
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NM_001040142.2(SCN2A):c.1283A>G (p.Tyr428Cys)
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rs796053182
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NM_001040142.2(SCN2A):c.1528C>T (p.Gln510Ter)
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rs1553569659
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NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)
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rs746060762
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NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe)
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rs1699366355
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NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro)
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rs796053116
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NM_001040142.2(SCN2A):c.2894T>G (p.Met965Arg)
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rs1699489239
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NM_001040142.2(SCN2A):c.2932T>C (p.Phe978Leu)
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rs1700068946
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NM_001040142.2(SCN2A):c.3217G>T (p.Gly1073Ter)
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rs1553584053
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NM_001040142.2(SCN2A):c.3399G>C (p.Glu1133Asp)
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rs1700091023
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NM_001040142.2(SCN2A):c.3778A>C (p.Lys1260Gln)
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rs1553591813
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NM_001040142.2(SCN2A):c.3778A>G (p.Lys1260Glu)
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rs1553591813
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NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)
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rs1574716488
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NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu)
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rs796053137
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NM_001040142.2(SCN2A):c.4369ATT[1] (p.Ile1458del)
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rs796053193
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NM_001040142.2(SCN2A):c.4489TAC[1] (p.Tyr1498del)
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rs1701580892
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NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr)
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rs1553462227
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NM_001040142.2(SCN2A):c.4506A>T (p.Lys1502Asn)
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rs1701581615
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NM_001040142.2(SCN2A):c.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle)
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rs796053195
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NM_001040142.2(SCN2A):c.4777G>A (p.Gly1593Arg)
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rs886041259
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NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu)
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rs1553463140
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NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs)
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rs1574751309
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NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln)
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rs796053155
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NM_001040142.2(SCN2A):c.4896_4897insT (p.Ile1633fs)
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rs1702004667
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NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln)
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rs1057520844
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NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)
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rs1702008435
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NM_001040142.2(SCN2A):c.4984A>G (p.Asn1662Asp)
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rs1702009644
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NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile)
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rs1574752700
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NM_001040142.2(SCN2A):c.5339G>T (p.Ser1780Ile)
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rs796053163
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NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp)
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rs1697272829
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NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp)
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rs1697311700
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NM_001040142.2(SCN2A):c.710T>A (p.Ile237Asn)
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rs1697360061
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NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
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rs387906686
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NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val)
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rs1064795655
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NM_001271.4(CHD2):c.2068C>T (p.His690Tyr)
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rs2053779726
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NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
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rs1555444603
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NM_001282531.3(ADNP):c.1046_1047del (p.Leu349fs)
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rs1981065982
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NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter)
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rs886056775
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NM_001282531.3(ADNP):c.201G>C (p.Gln67His)
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rs1555812161
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NM_001282531.3(ADNP):c.2129dup (p.Ser711fs)
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rs1980913274
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NM_001282531.3(ADNP):c.2287del (p.Ser763fs)
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rs1555809919
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NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln)
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rs797045041
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NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs)
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rs1555990958
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NM_001347721.2(DYRK1A):c.924+4_924+7del
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rs1555984461
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NM_001349338.3(FOXP1):c.1458_1461dup (p.Leu488fs)
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rs2037704254
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NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys)
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rs863225081
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NM_006245.4(PPP2R5D):c.590A>G (p.Glu197Gly)
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rs1339608272
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NM_006245.4(PPP2R5D):c.599_602delinsGGCA (p.Glu200_Pro201delinsGlyHis)
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rs1762135444
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NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His)
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rs1762178916
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NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val)
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rs1064794719
|
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NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr)
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rs869312847
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NM_006734.4(HIVEP2):c.5620+1GT[2]
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rs1775234925
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NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter)
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rs1554275163
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NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter)
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rs1554274371
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NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser)
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rs1760893537
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NM_006772.3(SYNGAP1):c.1676+5G>T
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rs1760935231
|
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NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter)
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rs1554122400
|
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NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter)
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rs1554120978
|
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NM_015335.5(MED13L):c.5588+1G>A
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rs1135401810
|
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NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter)
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rs1555239555
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NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter)
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rs1568235086
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|
NM_015559.3(SETBP1):c.2561C>T (p.Ser854Phe)
|
rs2071362354
|
|
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)
|
rs1178702025
|
|
NM_015559.3(SETBP1):c.265C>T (p.Gln89Ter)
|
rs1568097623
|
|
NM_015559.3(SETBP1):c.4790_*9del (p.Ter1597TrpextTer?)
|
rs2073929830
|
|
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)
|
rs886039764
|
|
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys)
|
rs1555988422
|
|
NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr)
|
rs1928842837
|
|
NM_030632.3(ASXL3):c.1579dup (p.Gln527fs)
|
rs1599563269
|
|
NM_030632.3(ASXL3):c.1627_1628del (p.Leu543fs)
|
rs1085307640
|
|
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs)
|
rs1599563995
|
|
NM_030632.3(ASXL3):c.3039+1G>A
|
rs1555743003
|
|
NM_030632.3(ASXL3):c.3321_3325del (p.Lys1109fs)
|
rs2067694639
|
|
NM_030632.3(ASXL3):c.3374_3377dup (p.Thr1127fs)
|
rs2067695956
|
|
NM_030632.3(ASXL3):c.4022_4023del (p.Val1341fs)
|
rs886041846
|
|
NM_030632.3(ASXL3):c.4072_4085del (p.Val1358fs)
|
rs1555744039
|
|
NM_030632.3(ASXL3):c.4156del (p.Ser1386fs)
|
rs2067717504
|
|
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)
|
rs1555744282
|
|
NM_030632.3(ASXL3):c.6165del (p.Lys2055fs)
|
rs1555745616
|
|
NM_173495.3(PTCHD1):c.1985_1986del (p.Leu661_Tyr662insTer)
|
rs1922892999
|
|
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His)
|
rs1057518092
|
|
NM_177559.3(CSNK2A1):c.466G>T (p.Asp156Tyr)
|
rs1568512728
|
|
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu)
|
rs1064795110
|
|