{"text_format":"2","workbook":"xlsx","n_sheets":3,"sheets":["ASD group","no ASD group","death group"],"not_rendered":{"charts":0,"images":0,"macros":0,"external_links":0,"defined_names":2,"comments":0,"pivot_tables":0},"unopened":[],"bounds":{"document_bytes":16777216,"sheet_cells":100000,"run_cost":"one","rows_first":2000,"rows_last":500,"rows_between":2000,"halvings":0,"cell_chars":16384,"cell_head_chars":4096},"cells_cut":0,"cells_raw":0,"read":"whole","date_system":"1900"}

{"sheet":"ASD group","index":0,"n_rows":52,"n_cols":21,"rows_kept":52,"cut":false,"hidden":false,"merged":[[0,12,0,13],[0,14,0,15],[0,0,1,0],[0,1,1,1],[0,2,1,2],[0,3,1,3],[0,4,1,4],[0,5,1,5],[0,6,1,6],[0,7,1,7],[0,8,1,8],[0,9,1,9],[0,10,1,10],[0,11,1,11],[0,16,1,16],[0,17,1,17],[0,18,1,18],[0,19,1,19],[0,20,1,20]]}
["Genes","Patient ID","Sex","Current age","Diagnose age","Coordinate","Allele","Mutation types","AA(Ref/Var)","Mutation mode","Sources of variation","RefSeq ID","Aelle frequency on GnomAD ",null,"Aelle frequency on EXAC",null,"Frequency in the present patients(158)","ACMG","Inheritance","Initial diagnosis","Final Diagnosis "]
[{"$nulls":12},"Total","East Asia","Total","East Asia"]
["ARHGEF9","B0772","male","5y8m","5y6m","chrX:62898438","c.417G>A ","nonsense","p.W139X","hemizygote","maternal","NM_001173479.1","none",null,"none",null,0.00633,"pathogenic","XLR","Epileptic encephalopathy","Epileptic encephalopathy, early infantile, 8"]
["ARHGEF9","B0543","male","2y3m","1y10m","chrX:62917056 ","c.510T>A","nonsense","p.Y170X ","hemizygote","maternal","NM_015185","none",null,"none",null,0.00633,"pathogenic","XLR","Intellectual disability and epilepsy","Epileptic encephalopathy, early infantile, 8"]
["CACNA1A","M0319","female","1y10m","1y8m","chr19:13346427-13363915","/","del","/","heterozygote ","de novo","NM_023035","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Epileptic encephalopathy, early infantile, 42"]
["CC2D1A","B0016","male","7y8m","6y10m","chr19:14023982 \nchr19:14040908","c.380C>T\nc.2728G>A","missense\nmissense","p.P127L\np.E910K","heterozygote \nheterozygote ","unknown","NM_017721.4","0.00004286\n0.0001179","0.000\n0.001706","0.00008123\n0.0001251","0.000\n0.001669","0.00633\n0.00633","likely pathogenic\nuncertain significance","AR","Intellectual disability","Mental retardation, autosomal recessive 3"]
["SCN1A","P0378","male","7y4m","6y5m","chr2:166892584","c.3402_3403del","del","p.S1134fs","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Dravet syndrome","Dravet syndrome"]
["SCN1A","P0263","female","11y5m","10y7m","chr2:166848637","c.5148C>A ","nonsense","p.C1716X","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Dravet syndrome","Dravet syndrome"]
["SCN2A","P0179","male","4y5m","1y9m","chr2:166237657 ","c.4501A>G ","missense","p.M1501V ","heterozygote ","de novo","NM_021007","none",null,"none",null,0.00633,"pathogenic","AD","Epileptic encephalopathy","Epileptic encephalopathy, early infantile, 11"]
["SCN8A","P0273","female","9y","6y6m","chr12:52093399","c.752T>C","missense","p.L251P","heterozygote ","de novo","NM_014191","none",null,"none",null,0.00633,"pathogenic","AD","Epileptic encephalopathy","dravet"]
["SLC6A1","P0095","female","10y10m","9y10m","chr3:11067962","c.995T>G","missense","p.M332R","heterozygote ","de novo","NM_003042","none",null,"none",null,0.00633,"pathogenic","AD","Intellectual disability and epilepsy","Doose syndrome"]
["SLC6A1","M0329","male","4y7m","2y7m","chr3:11064155 ","c.714+1G>A","splicing","/","heterozygote ","de novo","NM_003042","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Doose syndrome"]
["SLC6A8","B0657","male","4y","3y7m","chrX:152960032","c.1540C>T","nonsense","p.R514X ","hemizygote","maternal","NM_005629","none",null,"none",null,0.00633,"pathogenic","XLR","Epilepsy","Cerebral creatine deficiency syndrome 1"]
["SYNGAP1","A0237","female","3y5m","2y4m","chr6:33405505 ","c.823delC","del","p.P275Pfs","heterozygote ","de novo","NM_006772","none",null,"none",null,0.00633,"pathogenic","AD","Intellectual disability","Mental retardation, autosomal dominant 5"]
["SYNGAP1","A0238","male","11y5m","7y2m","chr6:33400564","c.490C>T","nonsense","p.R164X","heterozygote ","de novo","NM_006772","none",null,"none",null,0.00633,"pathogenic","AD","Intellectual disability","Mental retardation, autosomal dominant 5"]
["TSC1","M0320","female","6y11m","4y6m","chr9:135796751","c.570_583del","del","p.E190fs","heterozygote ","maternal","NM_001162427","none",null,"none",null,0.00633,"pathogenic","AD","Tuberous sclerosis complex","Tuberous sclerosis complex"]
["TSC1","M0321","male","14y","12y8m","chr9:135779045","c.2047_2048insTG","insertion","p.A683fs","heterozygote ","unknown","NM_001162427","none",null,"none",null,0.00633,"pathogenic","AD","Tuberous sclerosis complex","Tuberous sclerosis complex"]
["TSC2","M0322","male","1y7m","1y6m","chr16:2121535","c.1864C>T","missense","p.R622W ","heterozygote ","paternal","NM_001077183","none",null,"none",null,0.00633,"likely pathogenic","AD","Epilepsy","Tuberous sclerosis complex"]
["USH2A","B0671","male","1y7m","1y6m","chr1:215953193\nchr1:216062375\nchr1:216348729","c.10931C>T\nc.7616C>T\nc.4492C>G","missense\nmissense\nmissense","p.T3644M\np.P2539L\np.P1498A","heterozygote \nheterozygote \nheterozygote","maternal\nmaternal\npaternal","NM_206933.2","0.00006500\n0.00005793\nnone","0.0006361\n0.0002659\nnone","0.00008244\n0.0009179\nnone","0.000\n0.0003544\nnone","0.00633\n0.00633\n0.00633","likely pathogenic\nlikely pathogenic\nlikely pathogenic\n\n","AR","Global developmental delay","Usher syndrome, type 2A"]
["DYRK1A","B0326","female","5y5m","4y7m","chr21:38868526","c.1178C>G","missense","p.T393S ","heterozygote ","unknown","NM_130436",9.392e-5,0.001379,0.0007452,0.001042,0.00633,"uncertain significance","AD","Intellectual disability","Mental retardation, autosomal dominant 7"]
["FRMPD4","B0435","male","4y8m","3y10m","chrX:12736216","c.3271C>G","missense","p.Q1091E","hemizygote","maternal","NM_014728",0.0001948,0.002808,0.0002509,0.003314,0.00633,"uncertain significance","XLR","Intellectual disability","Mental retardation, X-linked 104"]
["ARX","A0016","male","12y7m","10y2m","chrX:25031910","c.202C>A","missense","p.P68T","hemizygote","maternal","NM_139058","none",null,"none",null,0.00633,"likely pathogenic","XLR/XL","Intellectual disability and epilepsy","MR、EP"]
["CHD8","B0079","female","6y1m","4y8m","chr14:21861921","c.5195dupA","dup","p.E1732fs","heterozygote ","maternal","NM_020920","none",null,"none",null,0.00633,"pathogenic","AD","ASD,intellectual disability","ASD，Autism, susceptibility to, 18 and intellectual disability"]
["FOXG1","B0692","male","5y1m","3y7m","chr14:29237673","c.1188C>A","nonsense","p.C396X","heterozygote ","de novo","NM_005249","none",null,"none",null,0.00633,"pathogenic","AD","Intellectual disability","Rett syndrome, congenital variant"]
["HUWE1","B0644","male","1y9m","1y4m","chrX:53658518","c.693+1G>T","splicing","/","hemizygote","de novo","NM_031407.5 ","none",null,"none",null,0.00633,"pathogenic","/","Intellectual disability","Mental retardation, X-linked syndromic, Turner type"]
["MECP2","A0239","female","4y7m","2y9m","chrX:153296399","c.916C>T","nonsense","p.R306X","heterozygote ","de novo","NM_001110792","none",null,"none",null,0.00633,"pathogenic","XLD","Intellectual disability","Rett syndrome"]
["MECP2","A0240","female","3y3m","1y10m","chrX:153296471","c.844C>T","nonsense","p.R282X","heterozygote ","de novo","NM_001110792","none",null,"none",null,0.00633,"pathogenic","XLD","Intellectual disability","Rett syndrome"]
["MECP2","A0241","male","10y7m","8y2m","chrX:153296107","c.1208C>G","missense","p.P403R ","hemizygote","maternal","NM_001110792","none",null,"none",null,0.00633,"likely pathogenic","XLD","Intellectual disability and epilepsy","Rett syndrome"]
["MECP2","B0235","female","2y10m","2y","chrX:153296806","c.509C>T","missense","p.T170M","heterozygote ","de novo","NM_001110792","none",null,"none",null,0.1266,"pathogenic","XLD","Intellectual disability","Rett syndrome"]
["MECP2","A0114","male","3y2m","1y6m","chrX:153296099","c.1216G>A","missense","p.E406K ","hemizygote","maternal","NM_001110792",7.067e-5,0.0003748,3.627e-5,0.000201,0.00633,"likely pathogenic","XLD","Intellectual disability","Rett syndrome"]
["MECP2","B0333","female","3y","2y2m","chrX:153296806","c.473C>T","missense","p.T158M","heterozygote ","de novo","NM_004992","none",null,"none",null,0.1266,"pathogenic","XLD","Intellectual disability","Rett syndrome"]
["MECP2","B0294","male","5y11m","4y8m","chrX:153295863-153295864 ","c.1415_c.1416delAG","del","p.E472Gfs ","hemizygote","de novo","NM_004992","none",null,"none",null,0.00633,"pathogenic","XLD","Intellectual disability","Rett syndrome"]
["MEF2C","B0806","male","1y7m","1y4m","chr5:88100551","c.122G>A","missense","p.C41Y","heterozygote ","de novo","NM_001131005.2","none",null,"none",null,0.00633,"pathogenic","XLD","Intellectual disability","Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations"]
["SMARCA2","B0154","female","4y10m","3y8m","chr9:2086856","c.2554G>A","missense","p.E852K","heterozygote ","de novo","NM_003070","none",null,"none",null,0.00633,"pathogenic","AD","Intellectual disability","Nicolaides-Baraitser syndrome"]
["SMARCA2","B0339","female","2y10m","2y2m","chr9:2086866","c.2564G>A","missense","p.R855Q","heterozygote ","de novo","NM_003070","none",null,"none",null,0.00633,"pathogenic","AD","Intellectual disability","Nicolaides-Baraitser syndrome"]
["SMARCA2","B0153","female","3y9m","2y7m","chr9:2110355","c.3394G>A","missense","p.G1132S","heterozygote ","de novo","NM_003070","none",null,"none",null,0.00633,"pathogenic","AD","Intellectual disability","Nicolaides-Baraitser syndrome"]
["CDKL5","P0076","female","2y6m","2y","chrX:18593488","c.160_163del","del","p.K54fs","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0323","male","6y4m","5y6m","chrX:18593606","c.278dupA","dup","p.E93fs","hemizygote","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0324","female","8y","7y3m","chrX:18622155","c.1110delC","del","p.N370fs","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0325","female","5y8m","4y9m","chrX:18598086","c.401G>C","missense","p.R134P","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0326","female","4y2m","3y6m","chrX:18525274 ","c.58G>C","missense","p.G20R","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0327","female","5y2m","4y5m","chrX:18582616","c.119C>G","missense","p.A40G","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0328","female","10y4m","9y6m","chrX:18582595","c.100-2A>G ","splicing","/","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0163","female","3y","2y1m","exon3-exon8","/","del","/","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["HCFC1","B0087","male","7y1m","6y3m","chrX:153217114","c.5305G>A","missense","p.V1769M","heterozygote ","maternal","NM_005334",1.516e-5,0.0002168,0.0001675,1.294e-5,0.00633,"uncertain significance","XLR","Intellectual disability","Mental retardation, X-linked 3"]
["ASXL3","A0021","male","5y10m","3y4m","chr18:31319261-31319263","c.1897_1898delCA","del","p.Q633Vfs","heterozygote ","de novo","NM_030632","none",null,"none",null,0.00633,"pathogenic","AD","Intellectual disability","Bainbridge-Ropers syndrome"]
["DOLK","A0191","female","8y2m","6y4m","chr9:131709056","c.527A>G","missense","p.Y176C","homozygote","maternal and paternal","NM_014908.3","none",null,"none",null,0.00633,"likely pathogenic","AR","Intellectual disability and epilepsy","Congenital disorder of glycosylation, type Im"]
["OCRL","B0627","male","9y1m","9y","chrX:128710340-128710341","c.1926_c.1927delTG","del","p.S642Sfs","hemizygote","maternal","NM_000276","none",null,"none",null,0.00633,"pathogenic","XLR","Lowe syndrome","Lowe syndrome"]
["SGSH","A0244","male","8y2m","6y4m","chr17:78187979 \nchr17:78187614","c.654_655insTG\nc.734G>A","insertion\nmissense","p.D219fs\np.R245H","heterozygote \nheterozygote ","paternal\nmaternal","NM_000199.3","none\n0.0003332","none\n0.000","none\n0.0004128","none\n0.0001912","0.00633\n0.00633","pathogenic\nlikely pathogenic","AR","Intellectual disability","Mucopolysaccharidosis type IIIA"]
["WDFY3","A0245","male","3y2m","3y","chr4:85626562","c.8320T>A","missense","p.W2774R","heterozygote ","de novo","NM_014991.4 ","none",null,"none",null,0.00633,"pathogenic","AD","Global developmental delay and epilepsy","Microcephaly 18, primary, autosomal dominant"]
["UBE3A","B0043","female","6y5m","6y4m","chr15:25584333_25584336","c.2507_2510delAAGA","del","p.K836Rfs","heterozygote ","de novo","NM_130838.1","none",null,"none",null,0.00633,"pathogenic","IC","Intellectual disability","Angelman syndrome"]
["UBE3A","B0839","female","4y1m","4y1m","chr15:25612824","c.1437C>A","nonsense","p.Y479X","heterozygote ","de novo","NM_130838.1","none",null,"none",null,0.00633,"pathogenic","IC","Intellectual disability","Angelman syndrome"]

{"sheet":"no ASD group","index":1,"n_rows":108,"n_cols":20,"rows_kept":108,"cut":false,"hidden":false,"merged":[[0,11,0,12],[0,13,0,14],[0,0,1,0],[0,1,1,1],[0,2,1,2],[0,3,1,3],[0,4,1,4],[0,5,1,5],[0,6,1,6],[0,7,1,7],[0,8,1,8],[0,9,1,9],[0,10,1,10],[0,15,1,15],[0,16,1,16],[0,17,1,17],[0,18,1,18],[0,19,1,19]]}
["Genes","Patient ID","Sex","Current age","Coordinate","Allele","Mutation types","AA(Ref/Var)","Mutation mode","Sources of variation","RefSeq ID","Aelle frequency on GnomAD ",null,"Aelle frequency on EXAC",null,"Frequency in the present patients(158)","ACMG","Inheritance","Initial diagnosis","Final Diagnosis "]
[{"$nulls":11},"Total","East Asia","Total","East Asia"]
["AFF2","A0199","male","3y7m","chrX:148037578","c.926G>A","missense","p.R309K","heterozygote ","maternal","NM_001170628",1.12e-5,0,1.143e-5,0.0001509,0.00633,"likely pathogenic","XLR","Epilepsy","Mental retardation, X-linked, FRAXE type"]
["ATP1A3","A0246","male","2y9m","chr19:42480650","c.2045T>A","missense","p.I682N","heterozygote ","unknown","NM_001256213","none",null,"none",null,0.00633,"likely pathogenic","AD","Ataxia","CAPOS syndrome"]
["ATP1A3","A0247","male","6y6m","chr19:42474691","c.2300G>A","missense","p.R767H","heterozygote ","maternal","NM_001256213","none",null,"none",null,0.00633,"pathogenic","AD","Dystonia","Dystonia-12"]
["ATP1A3","A0248","male","14y10m","chr19:42486149","c.1103C>T","missense","p.T368I","heterozygote ","de novo","NM_001256213","none",null,"none",null,0.00633,"pathogenic","AD","Dystonia","Dystonia-12"]
["ATP1A3","P0133","female","1y3m","chr19:42489105","c.958G>A","missense","p.A320T","heterozygote ","de novo","NM_001256213","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dystonia-12"]
["ATRX","B0013","male","5y6m","chrX:76939300","c.1448A>C","missense","p.Q483P","hemizygote","maternal","NM_000489",9e-5,0.001222,0.0001026,0.001356,0.00633,"Uncertain significance","XLR","Intellectual disability","Mental retardation-hypotonic facies syndrome, X-linked"]
["CDKL5","P0108","female","1y5m","chrX:18602451","c.532C>T","missense","p.R178W ","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","P0065","male","1y10m","chrX:18602383","c.464G>A","missense","p.G155D ","hemizygote","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0329","male","3y5m","chrX:18593506","c.178G>T","nonsense","p.E60X","hemizygote","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0330","female","2y9m","chrX:18622381","c.1337C>G","nonsense","p.S446X","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0306","female","5y9m","chrX:18622563","c.1519C>T ","nonsense","p.Q507X","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0330","female","2y10m","chrX:18622196","c.1152C>G","nonsense","p.Y384X","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","M0331","female","2y4m","chrX:18602452","c.533G>T","missense","p.R178L","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CDKL5","P0201","female","1y7m","chrX:18622949 ","c.1906delG","del","p.A636Qfs","heterozygote ","de novo","NM_003159","none",null,"none",null,0.00633,"pathogenic","XLD","Epileptic encephalopathy","CDKL5 disorder"]
["CHD2","M0333","male","4y6m","chr15:93545500","c.4231_4234del","del","p.K1411fs ","heterozygote ","de novo","NM_001271",0.0001729,0,8.254e-6,0.0001512,0.00633,"pathogenic","AD","Epilepsy","Epileptic encephalopathy, childhood-onset"]
["CHD2","M0334","male","10y7m","chr15:93486100","c.854C>T","missense","p.A285V","heterozygote ","maternal","NM_001271",7.744e-5,0.0006391,8.292e-5,0.0006957,0.01266,"likely pathogenic","AD","Epilepsy","Epileptic encephalopathy, childhood-onset"]
["CHD2","M0335","female","7y4m","chr15:93486100","c.854C>T","missense","p.A285V","heterozygote ","maternal","NM_001271",7.744e-5,0.0006391,8.292e-5,0.0006957,0.01266,"likely pathogenic","AD","Epilepsy","Epileptic encephalopathy, childhood-onset"]
["CTNNB1","B0404","female","1y11m","chr3:41275708","c.1603C>T","nonsense","p.R535X","heterozygote ","de novo","NM_001904","none",null,"none",null,0.00633,"pathogenic","AD","Global development delay","Mental retardation, autosomal dominant 19"]
["DEAF1","P0178","female","2y4m","chr11:686900","c.762A>C","missense","p.R254S","heterozygote ","de novo","NM_001293634","none",null,"none",null,0.00633,"pathogenic","AD/AR","Intellectual disability and epilepsy","dyskinesia, seizures, and intellectual developmental disorder (DYSEIDD) "]
["DEAF1","B0457","female","8y6m","chr11:686960","c.702G>T","missense","p.W234C","heterozygote ","de novo","NM_001293634","none",null,"none",null,0.00633,"pathogenic","AD/AR","Intellectual disability and epilepsy","dyskinesia, seizures, and intellectual developmental disorder (DYSEIDD) "]
["GRIN2B","B630","female","1y","chr12:13764778","c.1161T>C","missense","p.F554S","heterozygote ","de novo","NM_000834","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","focal epilepsy and speech disorder (FESD) with or without mental retardation"]
["ITPR1","A0250","male","4y3m","chr3:4703764","c.1207-2A>G","splicing","/","heterozygote ","unknown","NM_002222","none",null,"none",null,0.00633,"pathogenic","AD","Global development delay","spinocerebellar ataxia-15"]
["KCNQ3","P0379","male","2y9m","chr8:133142000","c.1768T>C","missense","p.Y590H","heterozygote ","paternal","NM_001204824",6.496e-5,0.000902,6.601e-5,0.0009268,0.00633,"likely pathogenic","AD","Epilepsy","benign familial neonatal seizures-2"]
["NF1","M0336","male","1y11m","chr17:29548861","c.1642-7A>G","splicing","/","heterozygote ","de novo","NM_000267","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Neurofibromatosis"]
["NF1","M0337","female","6y8m","chr17:29653022","c.4957_4958del","del","p.V1653fs","heterozygote ","unknown","NM_000267","none",null,"none",null,0.00633,"pathogenic","AD","Neurofibromatosis","Neurofibromatosis"]
["NF1","B0434","female","1y3m","chr17:29677200-29677336","/","del","/","heterozygote ","de novo","NM_000267","none",null,"none",null,0.00633,"pathogenic","AD","Global development delay","Neurofibromatosis"]
["NF1","M0338","male","1y","chr17:29550506","c.1766delA","del","p.Q589fs","heterozygote ","de novo","NM_000267","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Neurofibromatosis"]
["OCRL","B0608","male","1y","chrX:128696350","c.940-11G>A","splicing","/","hemizygote","maternal","NM_000276","none",null,"none",null,0.00633,"Uncertain significance","XLR","Lowe syndrome","Lowe syndrome"]
["PCDH19","P0136","female","8y4m","chrX:99657789 ","c.2205_2208del","del","p.S735fs","heterozygote ","de novo","NM_001105243","none",null,"none",null,0.00633,"pathogenic","XL","Epilepsy","Epileptic encephalopathy, early infantile, 9"]
["PCDH19","P0248","female","2y7m","chrX:99662850","c.746A>G","missense","p.E249G","heterozygote ","de novo","NM_001184880","none",null,null,null,0.00633,"pathogenic","XL","Epilepsy","Epileptic encephalopathy, early infantile, 9"]
["PCDH19","M0339","female","4y1m","chrX:99662399","c.1197T>G","nonsense","p.Y399X","hemizygote","de novo","NM_001184880","none",null,"none",null,0.00633,"pathogenic","XL","Epilepsy","Epileptic encephalopathy, early infantile, 9"]
["PCDH19","P0347","male","2y6m","chrX:99661957","c.1639G>C","missense","p.A547P","hemizygote","de novo","NM_001184880","none",null,null,null,0.00633,"pathogenic","XL","Epilepsy","Epileptic encephalopathy, early infantile, 9"]
["POMT1","B0019","male","2y9m","chr9:134386855 \nchr9:134394249","c.824+1G>A\nc.1229G>C","splcing\nmissence","/\np.W410S","heterozygote\nheterozygote ","paternal\nmaternal","NM_001077366","none\n0.00001626",0,"none\n0.0003328",null,"0.01899\n0.01266","pathogenic\nlikely pathogenic","AR","Muscular dystrophy","Muscular dystrophy-dystroglycanopathy "]
["POMT1","A0251","female","13y","chr9:134386855 \nchr9:134394249","c.824+1G>A\nc.1229G>C","splcing\nmissence","/\np.W410S","heterozygote\nheterozygote ","paternal\nmaternal","NM_001077366","none\n0.00001626",0,"none\n0.0003328",null,"0.01899\n0.01266","pathogenic\nlikely pathogenic","AR","Muscular dystrophy","Muscular dystrophy-dystroglycanopathy "]
["POMT1","B0551","male","2y7m","chr9:134386855\nchr9:134397547 ","c.824+1G>A\nc.1777G>A\n","splcing\nmissence","/\np.A593T","heterozygote\nheterozygote ","paternal\nmaternal","NM_001077366","none",null,"none",null,"0.01899\n0.00633","pathogenic\nlikely pathogenic","AR","Development delay","Muscular dystrophy-dystroglycanopathy "]
["PTEN","A0252","male","9y7m","chr10:89653805 ","c.622A>G","missense","p.M208V ","heterozygote ","de novo","NM_001304717","none",null,"none",null,0.00633,"pathogenic","AD/AR","Intellectual disability","Macrocephaly/autism syndrome "]
["RELN","M0340","male","3y","chr7:103179558 \nchr7:103201980 ","c.7147G>A\nc.5528G>T","missense\nmissense","p.A2383T\np.G1843V","heterozygote ","unknown\npaternal","NM_005045","0.00002034\n0.00006497","0.00005798\n0.0009543","none\n0.0001155","none\n0.001621","0.00633\n0.00633","likely pathogenic\nuncertain significance","AD/AR","Epilepsy","Familial temporal lobe epilepsy-7 (ETL7) "]
["SCN1A","P0142","male","3y3m","chr2:166908455","c.736_738del","del","p.246_246del","heterozygote ","de novo","NM_001165963 ","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0252","male","4y8m","chr2:166852531\nchr2:166892811","c.4573C>T\nc.3176A>T","nonsense\nmissense","p.R1525X \np.D1059V ","heterozygote\nheterozygote ","unknown","NM_001165963 ","none\n0.00004344","none\n0.0005315","none\n0.0002497","none\n0.0003516","0.00633\n0.00633","pathogenic\nuncertain significance","AD","Dravet syndrome","Dravet syndrome"]
["SCN1A","P0281","female","4y3m","chr2:166854672","c.4352C＞T ","missense","p.P1451L","heterozygote ","unknown","NM_001165963 ","none",null,"none",null,0.00633,"likely pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0205","male","5y10m","chr2:166894440","c.2792G>A","missense","p.R931H ","heterozygote ","unknown","NM_001165963 ","none",null,"none",null,0.00633,"likely pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0278","female","7y1m","chr2:166848086","c.5666T>G","missense","p.K1889T","heterozygote ","unknown","NM_006920","none",null,"none",null,0.00633,"likely pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0251","male","7y2m","chr2:166894467","c.2732T>C ","missense","p.K911R","heterozygote ","unknown","NM_006920","none",null,"none",null,0.00633,"likely pathogenic","AD","Dravet syndrome","Dravet syndrome"]
["SCN1A","M0341","female","6y2m","chr2:166848506","c.5246G>A","missense","p.S1749F","heterozygote ","unknown","NM_006920","none",null,"none",null,0.00633,"likely pathogenic","AD","Febrile seizures plus","Dravet syndrome"]
["SCN1A","P0317","male","6y6m","chr2:166848515 ","c.5270G>A","missense","p.G1757E ","heterozygote ","unknown","NM_006920","none",null,"none",null,0.00633,"likely pathogenic","AD","Dravet syndrome","Dravet syndrome"]
["SCN1A","P0259","male","5y7m","chr2:166901591","c.1624C>T","nonsense","p.R542X ","heterozygote ","unknown","NM_001165963 ","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0260","male","6y1m","chr2:166848615","c.5170G>A","missense","p.A1724T ","heterozygote ","de novo","NM_001165963 ","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0258","female","6y6m","chr2:166908254","c.939delC","del","p.D313fs","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Febrile seizures plus","Dravet syndrome"]
["SCN1A","P0284","female","7y6m","exon4","/","del","/","heterozygote ","unknown","NM_001165963 ","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0342","male","5y7m","chr2:16685874","c.4261A>G","missense","p.K1421E","heterozygote ","de novo","NM_006920","none",null,"none",null,0.00633,"pathogenic","AD","Epileptic encephalopathy","Dravet syndrome"]
["SCN1A","P0254","male","4y6m","intron6","IVS6ds+1G＞C","splicing","/","heterozygote ","unknown","NM_006920","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0343","female","4y10m","chr2:166897931","c.2693delA","del","/","heterozygote ","maternal","NM_006920","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0285","female","5y2m","chr2:166904178","c.1129C＞T","nonsense","p.R377X","heterozygote ","de novo","NM_001165963 ","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0344","female","4y6m","chr2:166848341","c.5411A>G","missense","p.F1804S","heterozygote ","maternal","NM_006920","none",null,"none",null,0.00633,"likely pathogenic","AD","Febrile seizures","Dravet syndrome"]
["SCN1A","P0326","female","7y11m","chr2:166898844","c.2134C>T","nonsense","p.R712X ","heterozygote ","de novo","NM_001165963 ","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0345","male","6y3m","chr2:166852582-166852583","c.4996-4997InsATGT","insertion","framshift","heterozygote ","unknown","NM_006920","none",null,"none",null,0.00633,"pathogenic","AD","Dravet syndrome","Dravet syndrome"]
["SCN1A","MOOO3","female","6y11m","chr2:166866352","c.3880-2A>G","splicing","/","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0346","female","6y11m","chr2:166866352","c.3880-2A>G","splicing","/","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.01266,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0253","male","3y1m","chr2:166848441","c.5344A>C","missense","p.I1782L","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.01266,"pathogenic","AD","Dravet syndrome","Dravet syndrome"]
["SCN1A","M0347","male","4y","chr2:166900358","c.1864delC","del","p.L622X","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0282","male","4y6m","chr2:166904177","c.1130G>T","missense","p.R377L","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0274","male","3y6m","chr2:166894607","c.2624_2625insTT","insertion","p.T875fs","heterozygote ","paternal","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0348","male","6y8m","chr2:166929881","c.251A>G","missense","p.Y84C","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Dravet syndrome","Dravet syndrome"]
["SCN1A","P0362","female","5y10m","chr2:166848851","c.490G>A","missense","p.R1634Q","heterozygote ","de novo","NM_001165963",4.063e-6,8.958e-6,"none",null,0.00633,"likely pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0264","male","3y4m","chr2:166892731","c.3255dupT","dup","p.I1086fs","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Complex febrile seizures ","Dravet syndrome"]
["SCN1A","M0349","female","3y2m","chr2:166859250","c.4016C>T","missense","p.A1339V  ","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0265","female","3y1m","chr2:166911147","c.602+1G＞A","splicing","/","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0277","female","5y9m","chr2:166909373","c.683C>T","missense","p.S228L","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0350","female","7y3m","chr2:166852619","c.4478_4485del","del","p.F1493fs","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0351","female","3y1m","exon13-16","/","del","/","heterozygote ","unknown","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Complex febrile seizures ","Dravet syndrome"]
["SCN1A","M0352","male","9y3m","chr2:166848246","c.5536_5539del","del","p.K1846fs","heterozygote ","paternal","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0353","male","5y4m","chr2:166904195","c.1112C>T","missense","p.A371V ","heterozygote ","maternal","NM_001165963","none",null,"none",null,0.00633,"likely pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0296","female","11y11m","chr2:166848296","c.5488_5489del","del","p.Q1830fs","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0295","female","6y4m","chr2:166868765","c.3733C>T","nonsense","p.R1245X","heterozygote ","unknown","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Dravet syndrome","Dravet syndrome"]
["SCN1A","P0177","female","7y7m","chr2:166911213","c.537T>A","nonsense","p.C179X ","heterozygote ","unknown","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0272","female","6y3m","chr2:166856274","c.4297G>A","missense","p.G1433R","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"likely pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0164","male","5y1m","chr2:166848275","c.5510C>T ","missense","p.P1837L ","heterozygote ","unknown","NM_001165963",3.261e-5,0.0001063,2.484e-5,0.0001157,0.00633,"likely pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0267","male","4y","chr2:166905448-16690550","c.974-976del","del","/","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0364","male","2y3m","chr2:166930056","c.626T>C","missense","p.L209P","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0354","male","6y6m","chr2:166848317","c.5468T>C","missense","p.M1823T ","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Dravet syndrome","Dravet syndrome"]
["SCN1A","P0270","male","4y","chr2:166892805","c.3182delG","del","p.C1061fs","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0010","female","4y8m","chr2:166850739","c.4769T>C","missense","p.L1590P","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Global development delay and epilepsy","Dravet syndrome"]
["SCN1A","P0286","male","4y1m","chr2:166859098","c.4168G>A","missense","p.V1390M ","heterozygote ","unknown","NM_001165963","none",null,"none",null,0.00633,"likely pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0271","female","5y5m","chr2:166911159","c.1052delAT","nonsense","p.Y545X","heterozygote ","unknown","NM_006920","none",null,"none",null,0.00633,"pathogenic","AD","Dravet syndrome","Dravet syndrome"]
["SCN1A","P0292","male","6y6m","chr2:166859005","c.4261G＞C","missense","p.G1421R","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0293","male","6y11m","intron4","IVS4ds+1G>A","splicing","/","heterozygote ","unknown","NM_001165963","/",null,"/",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0249","female","5y4m","chr2:166915162","c.301C>T","missense","p.R101W","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Dravet syndrome","Dravet syndrome"]
["SCN1A","P0291","female","9y10m","chr2:166894614","c.2618G>A","nonsense","p.W873X","heterozygote ","unknown","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","M0355","female","4y2m","chr2:166848879","c.4906C>T","nonsense","p.R1636X","heterozygote ","maternal","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Dravet syndrome"]
["SCN1A","P0275","female","3y11m","chr2:166908375","c.818T>C","missense","p.L273P","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Complex febrile seizures ","Dravet syndrome"]
["SCN1A","M0356","male","7y6m","chr2:166848204","c.5581C>T","missense","p.R1861W","heterozygote ","de novo","NM_001165963","none",null,"none",null,0.00633,"pathogenic","AD","Febrile seizures plus","Dravet syndrome"]
["SCN2A","P0202","female","1y4m","chr2:166198975","c.2558G>A","missense","p.R853Q","heterozygote ","de novo","NM_021007","none",null,"none",null,0.00633,"pathogenic","AD","West syndrome","Epileptic encephalopathy, early infantile, 11"]
["SCN8A","M0357","male","2y11m","chr12:52184231","c.4346A>G","missense","p.N1449S","heterozygote ","de novo","NM_001177984","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Epileptic encephalopathy, early infantile, 13"]
["SCN8A","M0358","male","4y1m","chr12:52056683","c.82C>T","missense","p.R28C","heterozygote ","maternal","NM_001177984",1.628e-5,0,1.661e-5,0,0.00633,"Uncertain significance","AD","Epilepsy","Epileptic encephalopathy, early infantile, 13"]
["SCN9A","M0359","male","2y10m","chr2:167129390","c.2842-5T>G ","splicing","/","heterozygote ","unknown","NM_002977",6.854e-6,0,"none",null,0.00633,"likely pathogenic","AD","Epilepsy","Generalized epilepsy with febrile seizures plus, type 7"]
["SCN9A","M0360","male","6y2m","chr2:167085475","c.3897_3899del","del","p.1299_1300del","heterozygote ","paternal","NM_002977","none",null,"none",null,0.00633,"pathogenic","AD","Epilepsy","Generalized epilepsy with febrile seizures plus, type 7"]
["SLC30A3","M0361","female","1y5m","chr2:2748105","c.394C>T","missense","p.R132C","heterozygote ","de novo","NM_003459",3.229e-5,0,"none",null,0.00633,"pathogenic","/","Epilepsy","Landau-Kleffner syndrome"]
["SPAST","M0362","male","8y","chr2:32366975","c.1496G>A","missense","p.R499H","heterozygote ","de novo","NM_014946","none",null,"none",null,0.00633,"pathogenic","AD","paralysis","Autosomal dominant spastic paraplegia-4"]
["STXBP1","P0029","female","2y5m","chr9:130438197","c.1225_1227del","del","/","heterozygote ","de novo","NM_001032221","none",null,"none",null,0.00633,"pathogenic","AD","West syndrome","Epileptic encephalopathy, early infantile, 4"]
["STXBP1","MOO46","male","2y1m","chr9:130430438","c.874C>T","missense","p.R292C","heterozygote ","maternal","NM_001032221","none",null,"none",null,0.00633,"likely pathogenic","AD","Epileptic encephalopathy","Epileptic encephalopathy, early infantile, 4"]
["STXBP1","P0192","female","1y4m","chr9:130416030-130416032","c.124_c.126delTCC","del","p.S42del ","heterozygote ","de novo","NM_001032221","none",null,"none",null,0.00633,"pathogenic","AD","Epileptic encephalopathy","Epileptic encephalopathy, early infantile, 4"]
["TSC1","A0253","female","3y2m","chr9:135778027","c.2356C>T","nonsense","p.R786X","heterozygote ","paternal","NM_000368","none",null,"none",null,0.00633,"pathogenic","AD","Tuberous sclerosis complex","Tuberous sclerosis complex"]
["TSC2","A0254","male","3y4m","chr16:2100399","c.139-2A>G","splicing","/","heterozygote ","de novo","NM_001077183","none",null,"none",null,0.00633,"pathogenic","AD","Tuberous sclerosis complex","Tuberous sclerosis complex"]
["TSC2","P0343","male","2y4m","chr16:2131656","c.3539A>T","missense","p.N1180I","heterozygote ","paternal","NM_001077183",8.139e-6,0.0001161,"none",null,0.00633,"likely pathogenic","AD","West syndrome","Tuberous sclerosis complex and West syndrome"]
["TSC2","M0363","male","5y9m","chr16:2134569","c.4346delC","del","p.S1449fs","heterozygote ","maternal","NM_001077183","none",null,"none",null,0.00633,"likely pathogenic","AD","Epilepsy","Tuberous sclerosis complex and epilepsy"]
["UBE3A","B0684","male","4y6m","chr15:25616861","c.469T>C ","missense","p.F157L","heterozygote ","de novo","NM_130838.1","none",null,"none",null,0.00633,"pathogenic","AD","Global development delay and epilepsy","Angelman syndrome"]

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["Genes","Patient ID","Sex","Current age","Coordinate","Allele","Mutation types","AA(Ref/Var)","Mutation mode","Sources of variation","RefSeq ID","Aelle frequency on GnomAD ",null,"Aelle frequency on EXAC",null,"Frequency in the present patients(158)","ACMG","Inheritance","Initial diagnosis","Final Diagnosis "]
[{"$nulls":11},"Total","East Asia","Total","East Asia"]
["CHD2","M0332","male","2y7m","chr15:93522514\nchr15:93552468","c.2876+1G>A\nc.4507C>T","splcing\nmissence","/\np.R1503W","heterozygote\nheterozygote ","de novo\nmaternal","NM_001271","none\n0.000004062","none\n0.00003249","none\n 0.0000825","none\n0.0006066","0.00633\n0.00633","pathogenic\nlikely pathogenic","AD","Epilepsy","Epileptic encephalopathy, childhood-onset"]
["SCN8A","B0317","female","dead at the age of 1y7m","chr12:52162681","c.2934C>G","missense","p.S978R","heterozygote ","de novo","NM_014191","none",null,"none",null,0.00633,"pathogenic","AD","Epileptic encephalopathy","Epileptic encephalopathy, early infantile, 13"]