NGS and bioinformatic CNVs screening, 452-gene panel: AAAS,AARS,ABCD1,ABHD12,ABHD5,ACAD9,ACADM,ACADS,ACADVL,ACBD5,ACO2,ACTA1,ACTG2,ACVR2B,ADCY6,ADGRG6,AGK,AGL,AGPAT2,AGRN,AIFM1,ALDOA,ALG13,ALG14,ALG2,AMPD1,AMPD2,ANO5,APOPT1,APTX,AR,ARHGEF10,ARL6IP1,ARSA,ASAH1,ASCC1,ATAD3A,ATL1,ATL3,ATP13A2,ATP2A1,ATP7A,B3GALNT2,B4GALNT1,B4GAT1,BAG3,BCS1L,BICD2,BIN1,BSCL2,BVES,C12orf65,C19orf12,CACNA1S,CAPN1,CAPN3,CASQ1,CAV1,CAV3,CCDC78,CCT5,CFL2,CHAT,CHCHD10,CHKB,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,CIDEC,CLCN1,CLTCL1,CNTN1,CNTNAP1,COA5,COASY,COL12A1,COL13A1,COL6A1,COL6A2,COL6A3,COL9A3,COLQ,COQ2,COQ4,COQ7,COQ9,COX10,COX14,COX15,COX20,COX6A1,COX6A2,COX6B1,COX8A,CPOX,CPT1B,CPT2,CRYAB,CTDP1,CTSD,CYP27A1,CYP2C8,DAG1,DARS2,DCAF8,DCTN1,DES,DGUOK,DHH,DHTKD1,DLAT,DMD,DNA2,DNAJB2,DNAJB6,DNAJC19,DNM1L,DNM2,DNMT1,DOK7,DOLK,DPAGT1,DPM1,DPM2,DPM3,DST,DSTYK,DYNC1H1,DYSF,EARS2,ECEL1,ECHS1,EGR2,ELAC2,EMD,ENO3,ERBB3,ETFA,ETFB,ETFDH,EXOSC3,EXOSC8,FAM111B,FARS2,FASTKD2,FBLN5,FBN2,FBXL4,FBXO38,FDX1L,FGD4,FHL1,FHL2,FIG4,FKBP14,FKRP,FKTN,FLAD1,FLNC,FOXRED1,GAA,GALC,GAN,GARS,GBA2,GBE1,GCLC,GDAP1,GFER,GFM1,GFPT1,GJB1,GJC2,GLB1,GLDN,GLE1,GMPPB,GNB4,GNE,GSN,GYG1,GYS1,HADHA,HADHB,HARS,HIBCH,HINT1,HK1,HNRNPA1,HNRNPA2B1,HNRNPDL,HOXD10,HRAS,HSD17B4,HSPB1,HSPB3,HSPB8,HSPG2,HTRA2,IARS2,IBA57,IGHMBP2,IKBKAP,INF2,INPP5K,ISCU,ISPD,ITGA7,ITGA9,KARS,KBTBD13,KCNJ2,KIF1A,KIF1B,KIF5A,KLC2,KLHL40,KLHL41,LAMA2,LAMB2,LAMP2,LARGE1,LDB3,LDHA,LIMS2,LIPE,LITAF,LMNA,LMNB2,LMOD3,LPIN1,LRP4,LRSAM1,LYRM7,LYST,MARS,MATR3,MED25,MEFV,MEGF10,MFN2,MGME1,MICU1,MME,MORC2,MPV17,MPZ,MSTN,MTAP,MTHFR,MTM1,MTMR14,MTMR2,MUSK,MYBPC1,MYF6,MYH14,MYH2,MYH3,MYH7,MYH8,MYOT,MYPN,NAGLU,NALCN,NARS2,NDRG1,NDUFA11,NDUFA12,NDUFA9,NDUFAF1,NDUFAF4,NDUFAF6,NDUFB3,NDUFS4,NDUFV2,NEB,NEFH,NEFL,NEK9,NFU1,NGF,NLRP3,NTRK1,NUBPL,OPA1,ORAI1,PABPN1,PAX7,PDK3,PDSS1,PDSS2,PET100,PEX10,PEX16,PEX7,PFKM,PGAM2,PGK1,PGM1,PHKA1,PHKB,PHYH,PIEZO2,PIP5K1C,PLA2G6,PLD3,PLEC,PLEKHG5,PLIN1,PMM2,PMP22,PNKP,PNPLA2,PNPLA6,PNPLA8,POGLUT1,POLG,POLG2,POMGNT1,POMGNT2,POMK,POMT1,POMT2,PPARG,PRDM12,PREPL,PRKAG2,PRPS1,PRX,PSAP,PSMB8,PTPN22,PTRF,PTRH2,PUS1,PYGM,PYROXD1,RAB7A,RAPSN,RBCK1,REEP1,RETREG1,RNASEH1,RRM2B,RXYLT1,RYR1,SARS2,SBF1,SBF2,SCN11A,SCN4A,SCN9A,SCO1,SCO2,SCP2,SCYL1,SDHA,SDHAF1,SDHD,SELENON,SEPT9,SERAC1,SETX,SGCA,SGCB,SGCD,SGCG,SH3TC2,SIGMAR1,SLC16A1,SLC18A3,SLC22A5,SLC25A1,SLC25A20,SLC25A26,SLC25A32,SLC25A4,SLC25A46,SLC35A2,SLC52A2,SLC52A3,SLC5A7,SMCHD1,SMPD1,SNAP25,SOX10,SPEG,SPG11,SPTLC1,SPTLC2,SQSTM1,STAC3,STIM1,STUB1,SUCLA2,SUCLG1,SURF1,SYNE1,SYNE2,SYT2,TACO1,TANGO2,TAZ,TBC1D24,TBCD,TBCE,TCAP,TDP1,TFG,TIA1,TK2,TMEM126B,TMEM43,TNNI2,TNNT1,TNNT3,TNPO3,TOR1AIP1,TPM2,TPM3,TRAPPC11,TRIM2,TRIM32,TRIP4,TRMT10C,TRMT5,TRPV4,TSFM,TTC19,TTN,TTR,TWNK,TXN2,TYMP,UBA1,UBA5,UNC13A,VAPB,VARS2,VCP,VMA21,VRK1,WARS2,WNK1,XK,YARS,YARS2,ZBTB42,ZC4H2,