NGS and bioinformatic CNVs screening, 455-gene panel: AAAS,AARS2,ABAT,ABCA7,ABCB7,ABCD1,ABHD12,ABHD5,ACO2,ACP5,ACTB,ADAR,ADCK3,ADCY5,AFG3L2,AHDC1,AHI1,AIMP1,ALDH18A1,ALG6,ALS2,AMPD2,ANG,ANO10,ANO3,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,APOE,APP,APTX,ARL13B,ARL6IP1,ARSA,ARSI,ASNS,ASS1,ATAD3A,ATCAY,ATL1,ATM,ATP13A2,ATP1A2,ATP1A3,ATP2B3,ATP2B4,ATP6AP2,ATP7A,ATP7B,ATP8A2,B4GALNT1,B9D1,BRAT1,BSCL2,C12orf65,C19orf12,C5orf42,C9orf72,CA8,CACNA1A,CACNA1C,CACNA1G,CACNB4,CAMTA1,CAPN1,CARS2,CASK,CC2D2A,CCDC88C,CCT5,CEP104,CEP120,CEP290,CEP41,CHCHD10,CHCHD2,CHMP2B,CIZ1,CLCN2,CLN3,CLN5,CLN6,CLN8,CLPP,CNTNAP2,COASY,COG5,COL4A1,COL4A2,COL6A3,COQ2,COQ9,COX10,COX14,COX15,COX20,COX6B1,COX8A,CP,CPT1C,CSF1R,CSNK1D,CSPP1,CST3,CTBP1,CTDP1,CTNNB1,CTSD,CTSF,CWF19L1,CYP27A1,CYP2U1,CYP7B1,DARS,DARS2,DCTN1,DDHD1,DDHD2,DNA2,DNAJC19,DNAJC3,DNAJC5,DNAJC6,DNMT1,DPM1,DSTYK,EARS2,EBF3,ECHS1,EEF2,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,EIF4G1,ELOVL4,ELOVL5,ELP2,ENTPD1,EPM2A,ERBB4,ERCC4,ERLIN1,ERLIN2,EXOSC3,EXOSC8,FA2H,FAM126A,FARS2,FASTKD2,FBXO7,FGF12,FGF14,FIG4,FLVCR1,FMR1,FOLR1,FTL,FUS,FXN,GAD1,GALC,GAN,GBA,GBA2,GCH1,GFAP,GIGYF2,GJC2,GLB1,GLDC,GM2A,GNAL,GNAO1,GNB1,GOSR2,GPT2,GRID2,GRIK2,GRM1,GRN,HARS,HEXA,HEXB,HIBCH,HNRNPA1,HNRNPA2B1,HPCA,HSD17B4,HSPD1,HTRA1,HTRA2,HTT,IBA57,IFIH1,IFRD1,INPP5E,ITM2B,ITPR1,KCNA1,KCNA2,KCNC1,KCNC3,KCND3,KCNJ10,KCNK18,KCTD17,KCTD7,KIAA0556,KIAA0586,KIDINS220,KIF1A,KIF1C,KIF5A,KLC2,KMT2B,L1CAM,L2HGDH,LAMA1,LMNB1,LMNB2,LRP4,LRRK2,LYST,MAG,MAPT,MARS2,MATR3,MCOLN1,MECP2,MECR,MED13L,MFSD8,MKS1,MMACHC,MME,MPV17,MPZ,MRE11,MTFMT,MTPAP,MTTP,MYH14,NADK2,NAGLU,NALCN,NDUFV1,NEFH,NEK1,NHLRC1,NIPA1,NKX2-1,NOTCH3,NPC1,NPC2,NPHP1,NT5C2,OPA1,OPA3,OPHN1,OPTN,PANK2,PARK7,PAX6,PC,PCNA,PDE6D,PDGFB,PDGFRB,PDHA1,PDSS2,PDYN,PET100,PEX10,PEX16,PEX6,PEX7,PFN1,PGAP1,PGK1,PHYH,PIBF1,PIK3R5,PINK1,PITRM1,PLA2G6,PLD3,PLEKHG4,PLP1,PMM2,PMPCA,PNKD,PNKP,PNPLA6,PODXL,POLG,POLR1C,POLR3A,POLR3B,PPT1,PRKCG,PRKN,PRKRA,PRNP,PRPS1,PRRT2,PSAP,PSEN1,PSEN2,PTRH2,PTS,RAB39B,REEP1,REEP2,RNASEH2B,RNF170,RNF216,RPGRIP1L,RPL10,RRM2B,RTN2,RUBCN,SACS,SAMD9L,SCARB2,SCN1A,SCN2A,SCN8A,SCO1,SCP2,SCYL1,SERAC1,SERPINI1,SETX,SGCE,SIGMAR1,SIL1,SLC16A2,SLC17A5,SLC1A3,SLC1A4,SLC20A2,SLC25A46,SLC2A1,SLC33A1,SLC4A4,SLC52A2,SLC52A3,SLC6A1,SLC6A3,SLC9A1,SLC9A6,SNAP25,SNCA,SNCB,SNX14,SOD1,SORL1,SOX10,SPART,SPAST,SPG11,SPG21,SPG7,SPR,SPTAN1,SPTBN2,SQSTM1,STUB1,STXBP1,SUFU,SUMF1,SURF1,SYNE1,SYNJ1,SYT14,TACO1,TAF1,TANGO2,TARDBP,TBC1D24,TBCD,TBCE,TBK1,TCTN1,TCTN2,TCTN3,TDP1,TDP2,TECPR2,TENM4,TFG,TGM6,TH,THAP1,TIMM8A,TMEM138,TMEM216,TMEM231,TMEM237,TMEM240,TMEM67,TOR1A,TPK1,TPP1,TRAPPC11,TREM2,TREX1,TRPC3,TSEN54,TSFM,TTBK2,TTC19,TTPA,TTR,TUBA4A,TUBB4A,TWNK,TYROBP,UBA5,UBQLN2,UCHL1,USP8,VAC14,VAMP1,VAPB,VARS2,VCP,VLDLR,VPS11,VPS13A,VPS13C,VPS35,VPS37A,VWA3B,WARS2,WASHC5,WDR45,WDR45B,WDR48,WDR73,WDR81,WFS1,WWOX,XK,XPR1,ZFR,ZFYVE26,ZFYVE27,ZMYND11,ZNF423,ZNF592,