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. 2017 Apr;18(2):206–213. doi: 10.2174/1389202917666160805152627

Table 4.

CNVs associated with cardiovascular system development in the patient’ sample. *) Patients B00ACFQ and B00ACKL are siblings.

Patient ID CN-state Locus Genes
B00ADIK loss chr 1: 10.0-12.0 C1orf127, TARDBP, MASP2, SRM, MTOR, EXOSC10, ANGPTL7, UBIAD1, FBXO44, FBXO6, MAD2L2, DRAXIN, C1orf1
B00ADIC gain chr1:12.3-12.8 AADACL3, AADACL4, DHRS3, PRAMEF1, PRAMEF11, PRAMEF12, C1orf158, HNRNPCL1
B00ADMI gain chr1:12.3-12.8 AADACL3, AADACL4, DHRS3, PRAMEF1, PRAMEF11, PRAMEF12, C1orf158, HNRNPCL1
B00AE14 gain chr2:68.9-69.4 BMP10, GKN1, GKN2, ANTXR1
B00AD9N gain chr3:185.5-185.9 CLCN2, POLR2H, THPO, RP11-433C9.2, EPHB3
B00ACGF gain chr5:0.3-0.5 SDHA, PDCD6, EXOC3, AHRR, C5orf55, CCDC127
B00ACGZ gain chr7:16.9-17.4 AHR
B00AD2L loss chr7:19.0-19.1 TWIST1, HDAC9
B00ACEI gain chr8:143.8-144.8 LY6K, THEM6, SLURP1, LYPD2, LYNX1, LY6D, CYP11B2, LY6E, C8orf31, LY6H, GPIHBP1, ZFP41, GLI4, ZNF696, TOP1MT, RHPN1, MAFA
B00ACJC loss chr8:23.2-23.4 R3HCC1, ENTPD4, LOXL2
B00ADHH loss chr15:82.9-83.5 ZSCAN2, WDR73, NMB, SEC11A, ZNF92, ALPK3, SLC28A1,PDE8A
B00ACFQ* gain chr16:14.0-15.6 MKL2, PARN, BFAR, PLA2G10, NOMO1, NPIP
B00ACKL* gain chr16:14.0-15.6 MKL2, PARN, BFAR, PLA2G10, NOMO1, NPIP
B00AEME gain chr16:15.2-16.2 PKD1P1, MPV17L, C16orf45, KIAA0430, NDEI, MYH11, FOPNL, ABCC1, ABCC6
B00AEON gain chr16:15.2-16.2 PKD1P1, MPV17L, C16orf45, KIAA0430, NDEI, MYH11, FOPNL, ABCC1, ABCC6
B00ACG3 loss chr16:15.4-16.2 PKD1P1, MPV17L, C16orf45, KIAA0430, NDEI, MYH11, FOPNL, ABCC1, ABCC6
B00ACRB gain chr16:15.4-16.2 PKD1P1, MPV17L, C16orf45, KIAA0430, NDEI, MYH11, FOPNL, ABCC1, ABCC6
B00AE12 gain chr16:2.8-3.4 ZG16B, PRSS22, FLYWCH1,FLYWCH2, KREMEN2, PKMYT1, CLDN9, PAQR4, CLDN6, TNFRSF12A, HCFC1R1, THOC6, CCDC64B, MMP25, ZSCAN10, ZNF205, ZNF213, OR1F1, ZNF263, TIGD7, ZNF75A, OR2C1, MTRNR2L4, ZNF434, ZNF174
B00ADC0 gain chr16:84.9-85.3 MTHFSD, FOXL1, FOXC2, FOXF1
B00ADWH gain chr17:0.7-0.9 TIMM22, NXN, ABR
B00AEP8 gain chr17:29.0-29.7 CCL1, CCL2, CCL7, CCL8, CCL11, CCL13
B00AD77 gain chr17:75.7-75.8 GAA, EIF4A3, CARD14, SGSH, SLC26A11