|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
|
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)
|
rs200483989
|
0.00019
|
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NM_005215.4(DCC):c.2260G>A (p.Val754Met)
|
rs775565634
|
0.00008
|
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NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
|
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter)
|
rs1454466097
|
0.00001
|
|
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg)
|
rs751037529
|
0.00001
|
|
NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg)
|
rs986702153
|
0.00001
|
|
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys)
|
rs750896617
|
0.00001
|
|
15q11.2-12duplication
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|
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15q13.3duplication
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|
|
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15q25.3duplication
|
|
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1q42.2deletion
|
|
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22q11.21deletion
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|
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2q37.3deletion
|
|
|
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7q31.32deletion
|
|
|
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7q32.3duplication
|
|
|
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7q35 duplication
|
|
|
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9p24.1deletion
|
|
|
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GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)
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|
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GRCh38/hg38 15q11.2(chr15:22633497-23084434)
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|
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GRCh38/hg38 16p11.2(chr16:28825316-29028291)
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|
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GRCh38/hg38 16p13.11(chr16:15399656-16194269)
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|
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GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)
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|
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GRCh38/hg38 16p13.2(chr16:8937723-10049200)
|
|
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GRCh38/hg38 17q12(chr17:36466109-37946106)
|
|
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GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)
|
|
|
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NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
|
NM_000834.5(GRIN2B):c.23_24insC (p.Ser9fs)
|
|
|
|
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)
|
rs121912562
|
|
|
NM_001040142.2(SCN2A):c.1800del (p.Phe601fs)
|
|
|
|
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)
|
rs1553578503
|
|
|
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter)
|
rs587784464
|
|
|
NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)
|
|
|
|
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
|
|
|
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NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)
|
|
|
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NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)
|
|
|
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NM_001170629.2(CHD8):c.2345del (p.His782fs)
|
rs886039692
|
|
|
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter)
|
rs1131691548
|
|
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NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)
|
|
|
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NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)
|
|
|
|
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs)
|
rs774152851
|
|
|
NM_001271.4(CHD2):c.995_999del (p.Val332fs)
|
|
|
|
NM_001291415.2(KDM6A):c.3190dup (p.Trp1064fs)
|
|
|
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NM_001330078.2(NRXN1):c.1066del (p.Glu356fs)
|
|
|
|
NM_001330078.2(NRXN1):c.3430C>T (p.Arg1144Ter)
|
rs1282230077
|
|
|
NM_001330078.2(NRXN1):c.471dup (p.Leu158fs)
|
|
|
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NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)
|
rs724159948
|
|
|
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs)
|
rs2083275928
|
|
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NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter)
|
|
|
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NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)
|
|
|
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NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter)
|
rs2105571544
|
|
|
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)
|
rs1553518509
|
|
|
NM_001378418.1(TCF20):c.2803C>T (p.Gln935Ter)
|
|
|
|
NM_001385012.1(NBEA):c.5206dup (p.Ser1736fs)
|
|
|
|
NM_002397.5(MEF2C):c.403-1G>T
|
rs1561824498
|
|
|
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)
|
rs796052733
|
|
|
NM_002585.4(PBX1):c.550C>T (p.Arg184Ter)
|
rs1553248081
|
|
|
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)
|
rs727504317
|
|
|
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter)
|
rs767240461
|
|
|
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)
|
rs1057519632
|
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
|
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
|
|
|
|
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)
|
|
|
|
NM_012309.5(SHANK2):c.4304_4305del (p.Leu1434_Ser1435insTer)
|
rs1565527302
|
|
|
NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp)
|
rs746964903
|
|
|
NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe)
|
rs2131335751
|
|
|
NM_016188.5(ACTL6B):c.465del (p.Ala156fs)
|
rs2131335747
|
|
|
NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro)
|
rs2131334872
|
|
|
NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter)
|
rs2131333638
|
|
|
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)
|
rs119103221
|
|
|
NM_024496.4(IRF2BPL):c.1846del (p.Ala616fs)
|
|
|
|
NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter)
|
|
|
|
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)
|
|
|
|
NM_032322.4(RNF135):c.1015del (p.Val339fs)
|
rs724159978
|
|
|
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs)
|
rs1555910143
|
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
|
NM_138576.4(BCL11B):c.784_820del (p.Arg262fs)
|
|
|
|
NM_170606.3(KMT2C):c.8649del (p.Arg2884fs)
|
rs2093231242
|
|
|
Single allele
|
|
|