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Table 3 Summary of the CMA results of Cases 1and 2

From: A feasible diagnostic approach for the translocation carrier from the indication of products of conception

Case Type Chr. Region OMIM genes
1 Loss 6 q27 PDE10A, T, MPC1, RPS6KA2, RNASET2, FGFR1OP, CCR6, GPR31, UNC93A, TCP10, MLLT4, KIF25, DACT2, SMOC2, THBS2, PHF10, TCTE3, DLL1, FAM120B, PSMB1, TBP, PDCD2
Gain 17 p13.3p12 DOC2B, RPH3AL, FAM57A, GEMIN4, RNMTL1, NXN, TIMM22, ABR, TUSC5, YWHAE, CRK, MYO1C, INPP5K, PITPNA, SLC43A2, SCARF1, RILP, PRPF8, MIR22, WDR81, SERPINF2, SERPINF1, RPA1, RTN4RL1, DPH1, OVCA2, MIR132, MIR212, HIC1, SMG6, SRR, TSR1, SGSM2, MNT, PAFAH1B1, OR1D2, ASPA, TRPV3, TRPV1, SHPK, CTNS, P2RX5, ITGAE, GSG2, CAMKK1, P2RX1, ATP2A3, ANKFY1, UBE2G1, SPNS3, SPNS2, MYBBP1A, GGT6, ALOX15, PELP1, ARRB2, MED11, CXCL16, ZMYND15, TM4SF5, PSMB6, PLD2, MINK1, CHRNE, GP1BA, SLC25A11, RNF167, PFN1, ENO3, SPAG7, CAMTA2, KIF1C, SLC52A1, ZFP3, USP6, SCIMP, RABEP1, NUP88, C1QBP, DHX33, DERL2, MIS12, NLRP1, AIPL1, PITPNM3, SLC13A5, XAF1, FBXO39, TEKT1, ALOX12, MIR195, BCL6B, CLEC10A, ASGR2, ASGR1, DLG4, ACADVL, DVL2, PHF23, GABARAP, CTDNEP1, ELP5, CLDN7, SLC2A4, YBX2, EIF5A, GPS2, ACAP1, KCTD11, TNK1, PLSCR3, NLGN2, SPEM1, TMEM102, FGF11, CHRNB1, ZBTB4, POLR2A, TNFSF12, TNFSF13, SENP3, EIF4A1, CD68, MPDU1, SOX15, FXR2, SHBG, SAT2, ATP1B2, TP53, WRAP53, EFNB3, DNAH2, KDM6B, CHD3, KCNAB3, TRAPPC1, CNTROB, GUCY2D, ALOX15B, ALOX12B, ALOXE3, HES7, PER1, VAMP2, AURKB, CTC1, PFAS, SLC25A35, RANGRF, ARHGEF15, ODF4, RPL26, NDEL1, MYH10, PIK3R6, PIK3R5, NTN1, STX8, WDR16, GLP2R, RCVRN, GAS7, MYH13, MYH8, MYH4, MYH1, MYH2, MYH3, SCO1, PIRT
2 Gain 2 q37.1q37.3 HTR2B, NCL, SNORD20, SNORD82, NMUR1, PTMA, PDE6D, NPPC, DIS3L2, ALPP, ALPPL2, ALPI, ECEL1, PRSS56, CHRND, CHRNG, TIGD1, EIF4E2, EFHD1, GIGYF2, KCNJ13, NGEF, NEU2, INPP5D, ATG16L1, SAG, DGKD, USP40, UGT1A8, UGT1A10, UGT1A9, UGT1A7, UGT1A6, UGT1A5, UGT1A4, UGT1A3, UGT1A1, HJURP, TRPM8, SPP2, ARL4C, SH3BP4, AGAP1, GBX2, CXCR7, COL6A3, MLPH, PRLH, RAB17, LRRFIP1, RAMP1, SCLY, HES6, PER2, TRAF3IP1, ASB1, TWIST2, HDAC4, NDUFA10, OTOS, GPC1, MIR149, RNPEPL1, CAPN10, GPR35, AQP12A, KIF1A, AGXT, PASK, PPP1R7, ANO7, HDLBP, SEPT2, STK25, BOK, THAP4, ATG4B, DTYMK, ING5, D2HGDH, GAL3ST2, NEU4
Loss 17 p13.3p12 DOC2B, RPH3AL, FAM57A, GEMIN4, RNMTL1, NXN, TIMM22, ABR, TUSC5, YWHAE, CRK, MYO1C, INPP5K, PITPNA, SLC43A2, SCARF1, RILP, PRPF8, MIR22, WDR81, SERPINF2, SERPINF1, RPA1, RTN4RL1, DPH1, OVCA2, MIR132, MIR212, HIC1, SMG6, SRR, TSR1, SGSM2, MNT, PAFAH1B1, OR1D2, ASPA, TRPV3, TRPV1, SHPK, CTNS, P2RX5, ITGAE, GSG2, CAMKK1, P2RX1, ATP2A3, ANKFY1, UBE2G1, SPNS3, SPNS2, MYBBP1A, GGT6, ALOX15, PELP1, ARRB2, MED11, CXCL16, ZMYND15, TM4SF5, PSMB6, PLD2, MINK1, CHRNE, GP1BA, SLC25A11, RNF167, PFN1, ENO3, SPAG7, CAMTA2, KIF1C, SLC52A1, ZFP3, USP6, SCIMP, RABEP1, NUP88, C1QBP, DHX33, DERL2, MIS12, NLRP1, AIPL1, PITPNM3, SLC13A5, XAF1, FBXO39, TEKT1, ALOX12, MIR195, BCL6B, CLEC10A, ASGR2, ASGR1, DLG4, ACADVL, DVL2, PHF23, GABARAP, CTDNEP1, ELP5, CLDN7, SLC2A4, YBX2, EIF5A, GPS2, ACAP1, KCTD11, TNK1, PLSCR3, NLGN2, SPEM1, TMEM102, FGF11, CHRNB1, ZBTB4, POLR2A, TNFSF12, TNFSF13, SENP3, EIF4A1, CD68, MPDU1, SOX15, FXR2, SHBG, SAT2, ATP1B2, TP53, WRAP53, EFNB3, DNAH2, KDM6B, CHD3, KCNAB3, TRAPPC1, CNTROB, GUCY2D, ALOX15B, ALOX12B, ALOXE3, HES7, PER1, VAMP2, AURKB, CTC1, PFAS, SLC25A35, RANGRF, ARHGEF15, ODF4, RPL26, NDEL1, MYH10, PIK3R6, PIK3R5, NTN1, STX8, WDR16, GLP2R, RCVRN, GAS7, MYH13, MYH8, MYH4, MYH1, MYH2, MYH3, SCO1, PIRT, DNAH9, ZNF18, MAP2K4, MYOCD, ELAC2, HS3ST3A1