Exoma renal - com Del/Dup

Lista de Genes
AAGAB, AASS, ABCA12, ABCA7, ABCC2, ABCC6, ABCC8, ABCD1, ABCD4, ABCG2, ABCG5, ABCG8, ABL1, ACAD8, ACAD9, ACADM, ACADS, ACADVL, ACAT1, ACE, ACER3, ACP5, ACSF3, ACSL4, ACTA1, ACTB, ACTG1, ACTG2, ACTN4, ACVRL1, ADA, ADAMTS13, ADAMTS3, ADCY10, ADGRG2, ADH1C, ADNP, AFF4, AGA, AGK, AGPAT2, AGTR1, AGTR2, AGXT, AGXT2, AHI1, AIRE, AKT1, AKT3, ALAD, ALDH18A1, ALDH1A2, ALDH4A1, ALDH5A1, ALDOB, ALG1, ALG12, ALG13, ALG8, ALG9, ALK, ALKBH4, ALMS1, ALOX12B, ALOXE3, ALPL, ALS2, ALX4, AMER1, AMMECR1, AMT, ANKFY1, ANKLE2, ANKS6, ANLN, ANO5, ANOS1, ANTXR1, AP2S1, AP5Z1, APOA1, APOB, APOC2, APOC3, ApoE, APOL1, APOL3, APPL1, APRT, AQP2, ARCN1, ARG1, ARHGAP24, ARHGDIA, ARHGEF4, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARL6, ARMC5, ARNT2, ARSA, ARVCF, ARX, ASB9, ASL, ASPA, ASPH, ASPM, ASS1, ASXL1, ASXL3, ATAD3A, ATAD3C, ATG5, ATL1, ATN1, ATP13A2, ATP1A1, ATP1A3, ATP5F1D, ATP5F1E, ATP6V0A4, ATP6V1B1, ATP7B, ATPAF2, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, AUH, AURKAIP1, AVIL, AVPR2, AXIN1, AXIN2
B2M, B3GLCT, B4GAT1, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCOR, BCR, BCS1L, BDKRB2, BICC1, BIN1, BLK, BLVRA, BMP4, BMP7, BMPER, BMPR1A, BNC2, BPTF, BRAF, BSCL2, BSND, BTD, BTK, BTNL2, BUB1B
C12orf57, C1GALT1, C1QA, C1QB, C1QBP, C1QC, C1R, C1S, C2, C2CD3, C3, C3AR1, C4A, C4B, C4BPA, C7, C8A, C8B, C9, CA2, CA5A, CACNA1D, CACNA1G, CACNA1H, CACNA1S, CAD, CAPN1, CAPN12, CARD8, CASK, CASP10, CASR, CAST, CAV1, CAVIN1, CBS, CC2D2A, CCBE1, CCDC141, CCDC170, CCDC22, CCDC28B, CCDC8, CCL2, CCN2, CCND1, CCND2, CCNQ, CD151, CD2AP, CD320, CD44, CD46, CD59, CD81, CD96, CDC42, CDC45, CDC5L, CDC6, CDC73, CDCA7, CDH11, CDH23, CDH6, CDK20, CDK4, CDK5RAP2, CDK6, CDKL5, CDKN1B, CDKN1C, CDON, CDT1, CEL, CELA1, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP55, CEP57, CEP63, CEP83, CFAP418, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, CFTR, CHD1L, CHD4, CHD7, CHMP2B, CHN1, CHRM3, CHRNG, CHST14, CIITA, CILK1, CISD2, CIT, CLCN2, CLCN4, CLCN5, CLCNKA, CLCNKB, CLDN10, CLDN14, CLDN16, CLDN19, CLEC7A, CLIP1, CLMP, CLN3, CLPB, CLU, CNKSR2, CNNM2, CNTN6, COA8, COG1, COG5, COG6, COG7, COL18A1, COL1A1, COL1A2, COL25A1, COL27A1, COL3A1, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL7A1, COLEC10, COLEC11, COMT, COPA, COPB2, COQ2, COQ6, COQ7, COQ8B, COX10, COX14, COX20, COX6B1, COX7B, COX8A, CPLANE1, CPLX1, CPS1, CPT1A, CPT1C, CPT2, CR1, CR2, CRB2, CREBBP, CRIM1, CRKL, CRPPA, CRTAP, CSPP1, CTBP1, CTC1, CTH, CTLA4, CTNNB1, CTNS, CTU2, CUBN, CUL3, CUL4B, CUL7, CWC27, CXCL8, CXCR1, CYB561, CYB5A, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP24A1, CYP27B1, CYP2R1, CYP4F22, CYP7B1
D2HGDH, DAAM1, DACT1, DARS2, DBH, DBT, DCAF4L2, DCC, DCDC2, DCHS1, DCHS2, DCLRE1C, DCN, DCXR, DDB2, DDHD2, DDOST, DDX53, DDX59, DEAF1, DEFA1, DEFA3, DEFA4, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DHODH, DHTKD1, DICER1, DIS3L2, DKC1, DLC1, DLD, DLG1, DLG5, DLL3, DLL4, DMGDH, DMP1, DNA2, DNAH10, DNAH17, DNAJB11, DNAJC19, DNAJC21, DNASE1, DNASE1L3, DNM2, DNMT1, DPF2, DPH1, DSTYK, DUSP6, DVL1, DVL3, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYSF, DZIP1L
EBF3, EBP, EDNRA, EDNRB, EFEMP2, EFNA5, EFNB1, EGF, EHHADH, EHMT1, EIF2AK3, EIF4G1, ELN, ELP1, EMP2, ENG, ENPP1, EP300, EPG5, ERBB2, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN2, ERMARD, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOC3L2, EXOC4, EXT1, EXT2, EYA1
F10, F12, F2, FA2H, FAH, FAM186B, FAM20A, FAM20C, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FANK1, FARS2, FAS, FASLG, FASTKD2, FAT1, FAT3, FAT4, FBLN5, FBN3, FBP1, FBXL4, FBXO7, FBXW7, FCAR, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FCN1, FERMT1, FEZF1, FGA, FGF1, FGF10, FGF17, FGF20, FGF23, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FH, FIBP, FIG4, FKBP14, FKRP, FKTN, FLAD1, FLCN, FLI1, FLNA, FLNB, FLRT3, FLT4, FLVCR1, FMN1, FMO3, FN1, FOXC1, FOXC2, FOXE1, FOXF1, FOXG1, FOXI1, FOXP1, FOXP2, FOXP3, FOXRED1, FRAS1, FREM1, FREM2, FRMD3, FRMPD4, FTCD, FTSJ1, FUCA1, FUS, FUT8, FUZ, FXN, FXYD2, FZD2
G6PC1, G6PC3, G6PD, GABBR2, GABRA1, GABRB3, GABRD, GABRG2, GALE, GALK1, GALNS, GALNT3, GALT, GANAB, GAPVD1, GATA1, GATA3, GATA4, GATA6, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCK, GCLC, GCM2, GCSH, GDF11, GDF2, GDF3, GDF6, GDI1, GDNF, GEMIN4, GFRA1, GIGYF2, GJA1, GJC2, GK, GLA, GLB1, GLDC, GLI1, GLI2, GLI3, GLIS2, GLIS3, GLUD1, GLUD2, GLYCTK, GMNN, GNA11, GNAO1, GNAS, GNB1, GNB3, GNPTAB, GNPTG, GNS, GP1BA, GP1BB, GP9, GPC1, GPC3, GPC4, GPHN, GPR101, GREB1L, GRHPR, GRIA3, GRIP1, GSN, GUCY2D, GUSB, GYS2
HAAO, HABP2, HACE1, HADH, HADHA, HADHB, HAL, HAO1, HBA1, HBA2, HBB, HCCS, HCFC1, HDAC8, HERC2, HES7, HESX1, HEXB, HFE, HGD, HGF, HGSNAT, HIBCH, HLA-B, HLA-DQB1, HLA-DRA, HLA-DRB1, HLCS, HMBS, HMGA2, HMGCL, HMOX1, HNF1A, HNF1B, HNF4A, HNRNPA1, HNRNPK, HNRNPU, HOGA1, HOXA10, HOXA13, HOXD11, HOXD13, HP, HPD, HPRT1, HPS1, HPSE2, HRAS, HS6ST1, HS6ST2, HSD11B2, HSD17B3, HSD17B4, HSD3B2, HSPA4L, HSPA9, HSPB11, HSPD1, HSPG2, HTRA1, HTRA2, HUWE1, HYAL1, HYLS1
IARS1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFNG, IFT122, IFT140, IFT172, IFT27, IFT43, IFT57, IFT80, IGF2, IGHMBP2, IKZF1, IL10, IL17F, IL17RA, IL17RC, IL17RD, IL1RAPL1, IL23R, IL2RG, IL6, IL7R, ILK, INCENP, INF2, INPP5E, INPPL1, INS, INSL3, INSR, INTU, INVS, IQCB1, IQSEC2, IRF1, IRF5, ISCU, ITGA2, ITGA2B, ITGA3, ITGA6, ITGA8, ITGB1, ITGB3, ITGB4, ITPR3, ITSN1, ITSN2, IVD
JAG1, JAM3
KANK2, KANK4, KANSL1, KAT2B, KAT6A, KAT6B, KCNA1, KCNC3, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ18, KCNJ5, KCNK5, KCNQ1, KCTD1, KDM5B, KDM6A, KIAA0586, KIAA0753, KIF14, KIF1A, KIF1B, KIF26B, KIF5A, KIF7, KIFBP, KISS1R, KITLG, KLF11, KLF6, KLHL3, KLHL40, KLHL41, KLHL7, KLLN, KMT2A, KMT2D, KNG1, KNL1, KRAS, KRT17, KRT18, KRT8, KYNU
L2HGDH, LAGE3, LAMA5, LAMB2, LAMC1, LARGE1, LCAT, LDHA, LDHD, LDLR, LDLRAP1, LEMD3, LETM1, LFNG, LGR4, LIFR, LIG4, LIPN, LIPT2, LMBRD1, LMNA, LMNB1, LMNB2, LMO7, LMOD1, LMOD3, LMX1B, LONP1, LPIN1, LPIN2, LRIG2, LRP2, LRP4, LRP5, LRRK2, LTBP4, LYZ, LZTFL1
MAB21L2, MAD2L2, MAFB, MAGED2, MAGI2, MAMLD1, MANBA, MAP2K1, MAP2K2, MAP3K1, MAP3K4, MAP3K7, MAPK15, MAPKBP1, MAPRE2, MAPT, MASP1, MASP2, MAX, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCM5, MCPH1, MDH2, MDM2, MECP2, MED12, MED25, MEFV, MEGF8, MEN1, MEOX1, MESP2, MET, MFSD2A, MGME1, MICOS13, MID1, MID2, MINPP1, MITF, MKKS, MKS1, MLH1, MLXIPL, MMAA, MMAB, MMACHC, MMADHC, MMP14, MMP2, MMP9, MMUT, MNX1, MOCOS, MOCS1, MOCS2, MORC2, MPC1, MRAP, MRPS2, MRPS22, MSN, MTFMT, MTM1, MTMR14, MTOR, MTR, MTRR, MUC1, MVK, MXRA5, MYCN, MYCT1, MYD88, MYH11, MYH7B, MYH9, MYLK, MYMK, MYO1E, MYO5B, MYRF
NAA10, NADK2, NAGA, NAGLU, NARS2, NAT10, NAT8, NBN, NCAPD3, NCAPG2, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECTIN1, NEK1, NEK8, NEU1, NEUROD1, NEXMIF, NF1, NFIA, NGLY1, NHP2, NIPA1, NIPAL4, NIPBL, NKX2-1, NLRP3, NME1, NNT, NOD2, NODAL, NOP10, NOS3, NOTCH2, NOTCH3, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPM1, NPNT, NR0B1, NR2F2, NR3C2, NR4A2, NR5A1, NRAS, NRIP1, NSD1, NSD2, NSDHL, NSMCE2, NSMF, NSUN2, NT5C3A, NUBPL, NUMA1, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, NXF5
OBSL1, OCLN, OCRL, ODAD2, OFD1, OGDH, OGG1, OGT, OPA3, OPLAH, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTC, OXCT1
PAFAH1B1, PAH, PAK3, PALB2, PANK2, PARN, PARS2, PAX1, PAX2, PAX4, PAX6, PBX1, PC, PCCA, PCCB, PCK1, PCK2, PCNT, PCSK1, PCSK5, PCSK9, PDCD1, PDE1A, PDE4D, PDE6D, PDGFB, PDGFRB, PDHA2, PDPK1, PDSS2, PDX1, PECAM1, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM3, PHB, PHC1, PHEX, PHGDH, PHKA1, PHOX2B, PHYH, PIAS1, PIEZO1, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGP, PIGR, PIGT, PIGV, PIGW, PIGY, PIK3C2A, PIK3CA, PIK3R2, PIK3R5, PINK1, PITX2, PKD1, PKD2, PKHD1, PLA2R1, PLCD1, PLCE1, PLCG2, PLEC, PLG, PLOD1, PLOD2, PLP1, PLVAP, PMM2, PNKP, PNP, PNPLA6, PODXL, POGZ, POLA1, POLE, POLG, POLG2, POLR3A, POMT1, POMT2, POR, PORCN, POU3F4, POU6F2, PPARG, PPOX, PPP1R15B, PPP2R3C, PPP3CA, PQBP1, PRCC, PRDM16, PRDM8, PRDX1, PREPL, PRKAG2, PRKAR1A, PRKCD, PRKCSH, PRNP, PRODH, PROK2, PROKR2, PRPS1, PSAP, PSMD12, PSPH, PSTPIP1, PTCH1, PTCHD1, PTDSS1, PTEN, PTH1R, PTPN11, PTPN22, PTPRO, PUF60, PYCR2, PYGM
RAB18, RAB23, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAC2, RAD21, RAF1, RAG1, RAG2, RAI1, RARA, RARB, RBBP8, RBM10, RBM48, RBM8A, RBPJ, RECQL4, REEP1, REEP2, REN, RERE, REST, RETREG1, RFWD3, RFX5, RFXANK, RFXAP, RHOXF2B, RIN2, RIPK4, RIPPLY2, RLIM, RMND1, RNF139, RNF168, ROBO1, ROBO2, ROR2, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPL11, RPL15, RPL18, RPL26, RPL27, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RRM2B, RSPO1, RSPO2, RTEL1, RTN2, RYR1
SACS, SALL1, SALL4, SAMD9, SARS2, SASS6, SBDS, SBF1, SC5D, SCARB2, SCLT1, SCN2A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SDR9C7, SEC23B, SEC61A1, SEC63, SELE, SELL, SEMA3A, SEMA3E, SEMA4A, SERAC1, SERPINA1, SERPINA2, SERPINF2, SERPINH1, SETBP1, SETD1A, SETD2, SETD5, SETX, SF3B4, SFTPC, SGCB, SGPL1, SGSH, SHANK3, SHH, SHOC2, SHPK, SHROOM3, SI, SIGMAR1, SIK1, SIN3A, SIX1, SIX2, SIX3, SIX5, SIX6, SKI, SLC12A1, SLC12A3, SLC13A5, SLC16A1, SLC16A12, SLC16A2, SLC17A1, SLC17A3, SLC17A5, SLC19A2, SLC1A1, SLC20A2, SLC22A12, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A23, SLC25A4, SLC26A1, SLC26A4, SLC29A3, SLC2A1, SLC2A12, SLC2A2, SLC2A9, SLC30A9, SLC34A1, SLC34A3, SLC35A1, SLC35A2, SLC35F1, SLC36A2, SLC37A4, SLC3A1, SLC46A1, SLC49A4, SLC4A1, SLC4A4, SLC52A2, SLC5A1, SLC5A2, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3R1, SLC9A6, SLIT2, SLIT3, SLITRK6, SLURP1, SLX4, SMAD3, SMAD4, SMARCA4, SMARCAL1, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMCHD1, SMO, SMOC1, SMS, SNAI2, SNAP29, SNCA, SNCAIP, SNRPB, SON, SOS1, SOX10, SOX11, SOX17, SOX18, SOX2, SOX4, SOX9, SP110, SPART, SPAST, SPECC1L, SPG11, SPG7, SPINK5, SPINT2, SPRY2, SPRY4, SQSTM1, SRC, SRCAP, SRD5A2, SRGAP1, SRP54, SRY, SSR4, STAG3, STAMBP, STAR, STAT1, STAT3, STAT4, STAT5B, STEAP2, STIL, STK11, STRA6, STRADA, STS, STUB1, STX16, STXBP1, SUCLA2, SUCLG1, SUFU, SUGCT, SULT2B1, SUMF1, SUOX, SURF1, SYNPO, SYP
TACO1, TACR3, TADA2A, TAF13, TAFAZZIN, TALDO1, TANGO2, TAPT1, TAT, TBC1D1, TBC1D20, TBC1D24, TBC1D8B, TBCD, TBCK, TBL1XR1, TBP, TBX1, TBX15, TBX18, TBX22, TBX3, TBX6, TBXT, TCN2, TCTN1, TCTN2, TCTN3, TDO2, TERT, TFAP2A, TFE3, TGFB1, TGIF1, TGM1, THBD, THOC6, TIMM50, TIMMDC1, TINAG, TINF2, TK2, TLR9, TMCO1, TMEM107, TMEM126B, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM260, TMEM67, TMEM70, TMEM94, TNFRSF11A, TNFRSF11B, TNFSF18, TNS1, TNS2, TNS3, TNXB, TOP1MT, TP53, TP53RK, TP63, TPRKB, TRAF3IP1, TRAF3IP2, TRAIP, TRAP1, TREX1, TRIM32, TRIM37, TRIO, TRIP11, TRIP13, TRNT1, TRPC5, TRPC6, TRPS1, TRPV4, TRPV5, TRPV6, TRRAP, TSC1, TSC2, TSHZ3, TSPAN7, TSR2, TTC21B, TTC37, TTC8, TTR, TWIST2, TWNK, TXNDC15, TXNL4A, TXNRD2, TYROBP
UBA1, UBAP1, UBE2A, UBE2T, UBR1, UMOD, UMPS, UPB1, UPF3B, UPK2, UPK3A, UPK3B, UQCC2, UROC1, UROS, USB1, USP27X, USP8, USP9X
VAC14, VANGL1, VANGL2, VCP, VDR, VHL, VIPAS39, VPS11, VPS13A, VPS33A, VPS33B, VPS35, VTN, VWA2
WAS, WASHC5, WDPCP, WDR19, WDR35, WDR4, WDR62, WDR73, WFS1, WHAMM, WIPF1, WNK1, WNK4, WNT11, WNT3, WNT4, WNT5A, WNT7A, WNT9B, WRAP53, WRN, WT1, WWOX
XDH, XPA, XPC, XPNPEP3, XPO5, XRCC2, XRCC4, XYLT1, XYLT2
YAP1, YY1AP1
ZAP70, ZBTB16, ZBTB24, ZEB2, ZFP57, ZFPM2, ZFYVE26, ZIC2, ZIC3, ZMPSTE24, ZNF12, ZNF148, ZNF17, ZNF423, ZNF543, ZNF592, ZNF687, ZNF711, ZPR1
90 dias
2mL de sangue em tubo com EDTA