1. Analytes
  2. CTLA4

CTLA4

Analyte Export to PDF
Name:
cytotoxic T-lymphocyte associated protein 4
Symbol:
CTLA4
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
CD
CD152
CTLA-4
GSE
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
Changed:
  • Immunogenetics (21 genes)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AIRE
    BTK
    CD40
    CD40LG
    ADA2
    CTLA4
    CXCR4
    CYBB
    FAS
    FASLG
    FOXP3
    GATA2
    IL12RB1
    IL2RG
    PIK3CD
    PIK3R1
    SH2D1A
    STAT1
    STAT3
    WAS
    XIAP
  • Pediatric oncopredisposition - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 99.97 1
    ABCB11 99.86 1
    ACD 100.00 1
    AIP 99.99 1
    ALK 99.93 1
    APC 99.97 1
    ASXL1 100.00 1
    ATM 99.83 1
    RNF2 99.99 1
    BLM 99.80 1
    BMPR1A 99.58 1
    BRAF 99.78 1
    BRCA1 98.33 1
    BRCA2 99.99 1
    BRIP1 99.39 1
    BUB1B 100.00 1
    CBL 99.95 1
    CD27 99.95 1
    CD70 99.99 1
    CDC73 99.60 1
    CDH1 99.98 1
    CDK4 100.00 1
    CDKN1B 100.00 1
    CDKN1C 100.00 1
    CDKN2A 100.00 1
    CEBPA 100.00 1
    CEP57 99.92 1
    CREBBP 99.97 1
    CTC1 100.00 1
    CTLA4 99.99 1
    CTR9 99.98 1
    DDB2 100.00 1
    DICER1 99.96 1
    DIS3L2 99.90 1
    DKC1 99.59 1
    DNAJC21 99.67 1
    EFL1 99.83 1
    EGLN1 99.86 1
    EGLN2 99.97 1
    ELP1 99.96 1
    EPAS1 99.99 1
    EPCAM 99.89 1
    ERCC2 99.98 1
    ERCC3 99.90 1
    ERCC4 99.92 1
    ERCC5 99.99 1
    ERCC6L2 99.94 1
    ETV6 99.99 1
    EZH2 99.89 1
    FANCA 100.00 1
    FANCB 99.24 1
    FANCC 99.98 1
    FANCD2 99.86 1
    FANCE 99.99 1
    FANCF 100.00 1
    FANCG 100.00 1
    FANCI 99.96 1
    FANCL 99.67 1
    FAS 99.99 1
    FBXW7 99.90 1
    FH 99.95 1
    GATA1 99.97 1
    GATA2 99.99 1
    GPC3 99.60 1
    GPC4 99.89 1
    GPR161 99.92 1
    HAVCR2 99.93 1
    HRAS 100.00 1
    IKZF1 99.92 1
    ITK 99.91 1
    KRAS 99.13 1
    L2HGDH 99.92 1
    LIG4 100.00 1
    LZTR1 99.46 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAX 99.96 1
    MDH2 99.54 1
    MDM4 99.43 1
    MEN1 99.98 1
    MLH1 99.64 1
    MRAS 99.97 1
    MSH2 99.23 1
    MSH6 99.97 1
    MYSM1 94.16 1
    NBN 99.93 1
    NF1 99.88 1
    NF2 100.00 1
    NHP2 99.96 1
    NOP10 99.99 1
    NRAS 99.66 1
    NSD1 99.98 1
    PALB2 99.71 1
    PARN 99.75 1
    PAX5 99.82 1
    PHOX2B 99.98 1
    PIK3CA 99.74 1
    PMS2 70.47 1
    POLD1 99.96 1
    POLE 99.99 1
    POLH 99.85 1
    POT1 99.91 1
    PPP1CB 99.89 1
    PRF1 100.00 1
    PRKAR1A 100.00 1
    PTCH1 99.99 1
    PTEN 99.89 1
    PTPN11 99.98 1
    RAF1 99.97 1
    RB1 99.84 1
    RECQL4 100.00 1
    REST 99.99 1
    RET 99.97 1
    RIT1 99.78 1
    RMRP 100.00 1
    RPL11 99.81 1
    RPL15 31.77 1
    RPL18 100.00 1
    RPL26 30.55 1
    RPL27 99.83 1
    RPL35 99.99 1
    RPL35A 97.55 1
    RPL5 28.81 1
    RPS10 0.00 1
    RPS15A 22.14 1
    RPS17 100.00 1
    RPS19 100.00 1
    RPS24 91.48 1
    RPS26 8.99 1
    RPS27 27.45 1
    RPS28 100.00 1
    RPS29 99.96 1
    RPS7 88.50 1
    RRAS 99.98 1
    RRAS2 99.94 1
    RTEL1 100.00 1
    RUNX1 100.00 1
    SAMD9 99.93 1
    SAMD9L 99.95 1
    SBDS 99.93 1
    SDHA 99.98 1
    SDHAF2 99.96 1
    SDHB 97.32 1
    SDHC 99.67 1
    SDHD 82.93 1
    SETBP1 100.00 1
    SH2D1A 98.98 1
    SHOC2 99.96 1
    SLX4 100.00 1
    SMARCA4 99.99 1
    SMARCB1 99.99 1
    SMARCE1 99.87 1
    SOS1 99.68 1
    SOS2 99.39 1
    SRP72 99.91 1
    STK11 100.00 1
    SUFU 100.00 1
    TERC 98.59 1
    TERT 100.00 1
    TINF2 100.00 1
    TMEM127 99.99 1
    TP53 99.98 1
    TRIM28 100.00 1
    TRIM37 98.19 1
    TRIP13 100.00 1
    TSC1 99.99 1
    TSC2 99.98 1
    TSR2 99.96 1
    UBE2T 99.89 1
    USB1 89.62 1
    VHL 100.00 1
    WAS 99.90 1
    WRAP53 100.00 1
    WT1 99.99 1
    XPA 99.68 1
    XPC 99.98 1
    SRP54 99.90 1
  • Primary immune deficiencies (444 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACD 95.00 0 NM_001082486.1/ interpretable range CS1>95%
    ACP5 95.00 0 NM_001111035.2/ interpretable range CS1>95%
    ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95%
    ADA 95.00 0 NM_000022.3/ interpretable range CS1>95%
    ADA2 95.00 1 NM_001282225.1/ interpretable range CS1>95%
    ADAM17 95.00 0 NM_003183.6/ interpretable range CS1>95%
    ADAR 95.00 0 NM_001111.5/ interpretable range CS1>95%
    AICDA 95.00 0 NM_020661.3/ interpretable range CS1>95%
    AIRE 95.00 0 NM_000383.3/ interpretable range CS1>95%
    AK2 95.00 0 NM_001625.3/ interpretable range CS1>95%
    ALPI 95.00 0 NM_001631.4/ interpretable range CS1>95%
    AP1S3 95.00 0 NM_001039569.1/ interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95%
    APOL1 95.00 0 NM_003661.3/ interpretable range CS1>95%
    ARPC1B 95.00 0 NM_005720.4/ interpretable range CS1>95%
    ATAD3A 95.00 0 NM_001170535.2/ interpretable range CS1>95%
    ATG4A 95.00 0 NM_052936.4/ interpretable range CS1>95%
    ATM 95.00 0 NM_000051.3/ interpretable range CS1>95%
    ATP6AP1 95.00 0 NM_001183.5/ interpretable range CS1>95%
    ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95%
    B2M 95.00 0 NM_004048.2/ interpretable range CS1>95%
    BACH2 95.00 0 NM_021813.3/ interpretable range CS1>95%
    BCL10 95.00 0 NM_003921.5/ interpretable range CS1>95%
    BCL11B 95.00 0 NM_138576.3/ interpretable range CS1>95%
    BLM 95.00 0 NM_000057.3/ interpretable range CS1>95%
    BLNK 95.00 0 NM_013314.3/ interpretable range CS1>95%
    BPIFA1 95.00 0 NM_016583.3/ interpretable range CS1>95%
    BTK 95.00 0 NM_000061.2/ interpretable range CS1>95%
    C1QA 95.00 0 NM_015991.3/ interpretable range CS1>95%
    C1QB 95.00 0 NM_000491.4/ interpretable range CS1>95%
    C1QC 95.00 0 NM_172369.4/ interpretable range CS1>95%
    C1R 95.00 0 NM_001733.6/ interpretable range CS1>95%
    C1S 95.00 0 NM_201442.3/ interpretable range CS1>95%
    C2 95.00 0 NM_000063.5/ interpretable range CS1>95%
    C2orf69 95.00 0 NM_153689.5/ interpretable range CS1>95%
    C3 95.00 0 NM_000064.3/ interpretable range CS1>95%
    C5 95.00 0 NM_001735.2/ interpretable range CS1>95%
    C6 95.00 0 NM_000065.3/ interpretable range CS1>95%
    C7 95.00 0 NM_000587.3/ interpretable range CS1>95%
    C8A 95.00 0 NM_000562.2/ interpretable range CS1>95%
    C8B 95.00 0 NM_000066.3/ interpretable range CS1>95%
    C9 95.00 0 NM_001737.4/ interpretable range CS1>95%
    CARD11 95.00 0 NM_032415.5/ interpretable range CS1>95%
    CARD14 95.00 0 NM_024110.4/ interpretable range CS1>95%
    CARD9 95.00 0 NM_052813.4/ interpretable range CS1>95%
    CARMIL2 95.00 0 NM_001013838.2/ interpretable range CS1>95%
    CASP10 95.00 0 NM_032977.3/ interpretable range CS1>95%
    CASP8 95.00 0 NM_001228.4/ interpretable range CS1>95%
    CCBE1 95.00 0 NM_133459.4/ interpretable range CS1>95%
    CD19 95.00 0 NM_001770.5/ interpretable range CS1>95%
    CD247 95.00 0 NM_198053.2/ interpretable range CS1>95%
    CD27 95.00 0 NM_001242.4/ interpretable range CS1>95%
    CD28 95.00 0 NM_006139.3/ interpretable range CS1>95%
    CD3D 95.00 0 NM_000732.4/ interpretable range CS1>95%
    CD3E 95.00 0 NM_000733.3/ interpretable range CS1>95%
    CD3G 95.00 0 NM_000073.2/ interpretable range CS1>95%
    CD4 95.00 0 NM_000616.4/ interpretable range CS1>95%
    CD40 95.00 0 NM_001250.5/ interpretable range CS1>95%
    CD40LG 95.00 0 NM_000074.2/ interpretable range CS1>95%
    CD46 95.00 0 NM_002389.4/ interpretable range CS1>95%
    CD48 95.00 0 NM_001778.3/ interpretable range CS1>95%
    CD55 95.00 0 NM_000574.4/ interpretable range CS1>95%
    CD59 95.00 0 NM_203330.2/ interpretable range CS1>95%
    CD70 95.00 0 NM_001252.4/ interpretable range CS1>95%
    CD79A 95.00 0 NM_001783.3/ interpretable range CS1>95%
    CD79B 95.00 0 NM_000626.3/ interpretable range CS1>95%
    CD81 95.00 0 NM_004356.3/ interpretable range CS1>95%
    CD8A 95.00 0 NM_001768.6/ interpretable range CS1>95%
    CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95%
    CDCA7 95.00 0 NM_031942.4/ interpretable range CS1>95%
    CDH17 95.00 0 NM_004063.3/ interpretable range CS1>95%
    CEBPE 95.00 0 NM_001805.3/ interpretable range CS1>95%
    CFB 95.00 0 NM_001710.5/ interpretable range CS1>95%
    CFD 95.00 0 NM_001928.3/ interpretable range CS1>95%
    CFH 95.00 0 NM_000186.3/ interpretable range CS1>95%
    CFHR1 95.00 0 NM_002113.2/ interpretable range CS1>95%
    CFHR2 95.00 0 NM_005666.3/ interpretable range CS1>95%
    CFHR3 95.00 0 NM_021023.5/ interpretable range CS1>95%
    CFHR4 95.00 0 NM_001201550.2/ interpretable range CS1>95%
    CFHR5 95.00 0 NM_030787.3/ interpretable range CS1>95%
    CFI 95.00 0 NM_000204.4/ interpretable range CS1>95%
    CFP 95.00 0 NM_002621.2/ interpretable range CS1>95%
    CFTR 95.00 0 NM_000492.3/ interpretable range CS1>95%
    CHD7 95.00 0 NM_017780.3/ interpretable range CS1>95%
    CHUK 95.00 0 NM_001278.4/ interpretable range CS1>95%
    CIB1 95.00 0 NM_006384.3/ interpretable range CS1>95%
    CIITA 95.00 0 NM_000246.3/ interpretable range CS1>95%
    CLCN7 95.00 0 NM_001287.5/ interpretable range CS1>95%
    CLPB 95.00 0 NM_030813.5/ interpretable range CS1>95%
    COPA 95.00 0 NM_004371.3/ interpretable range CS1>95%
    COPG1 95.00 0 NM_016128.3/ interpretable range CS1>95%
    CORO1A 95.00 0 NM_007074.3/ interpretable range CS1>95%
    CR2 95.00 0 NM_001006658.2/ interpretable range CS1>95%
    CRACR2A 95.00 0 NM_001144958.1/ interpretable range CS1>95%
    CSF2RB 95.00 0 NM_000395.2/ interpretable range CS1>95%
    CSF3R 95.00 0 NM_000760.3/ interpretable range CS1>95%
    CTC1 95.00 0 NM_025099.5/ interpretable range CS1>95%
    CTLA4 95.00 0 NM_005214.4/ interpretable range CS1>95%
    CTNNBL1 95.00 0 NM_030877.4/ interpretable range CS1>95%
    CTPS1 95.00 0 NM_001905.3/ interpretable range CS1>95%
    CTSC 95.00 0 NM_001814.5/ interpretable range CS1>95%
    CXCR2 95.00 0 NM_001557.3/ interpretable range CS1>95%
    CXCR4 95.00 0 NM_003467.2/ interpretable range CS1>95%
    CYBA 95.00 0 NM_000101.3/ interpretable range CS1>95%
    CYBB 95.00 1 NM_000397.3/ interpretable range CS1>95%
    CYBC1 95.00 0 NM_001033046.3/ interpretable range CS1>95%
    DBR1 95.00 0 NM_016216.3/ interpretable range CS1>95%
    DCLRE1B 95.00 0 NM_022836.3/ interpretable range CS1>95%
    DCLRE1C 95.00 0 NM_001033855.2/ interpretable range CS1>95%
    DEF6 95.00 0 NM_022047.3/ interpretable range CS1>95%
    DGAT1 95.00 0 NM_012079.5/ interpretable range CS1>95%
    DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95%
    DKC1 95.00 0 NM_001363.4/ interpretable range CS1>95%
    DNAJC21 95.00 0 NM_001012339.3/ interpretable range CS1>95%
    DNASE1 95.00 0 NM_005223.3/ interpretable range CS1>95%
    DNASE1L3 95.00 0 NM_004944.3/ interpretable range CS1>95%
    DNASE2 95.00 0 NM_001375.2/ interpretable range CS1>95%
    DNMT3B 95.00 0 NM_006892.3/ interpretable range CS1>95%
    DOCK2 95.00 0 NM_004946.2/ interpretable range CS1>95%
    DOCK8 95.00 0 NM_203447.3/ interpretable range CS1>95%
    DSG1 95.00 0 NM_001942.3/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95%
    EFL1 95.00 0 NM_024580.5/ interpretable range CS1>95%
    ELANE 95.00 0 NM_001972.3/ interpretable range CS1>95%
    ELF4 95.00 0 NM_001421.3/ interpretable range CS1>95%
    EPG5 95.00 0 NM_020964.2/ interpretable range CS1>95%
    ERBIN 95.00 0 NM_001253697.1/ interpretable range CS1>95%
    EXTL3 95.00 0 NM_001440.3/ interpretable range CS1>95%
    FADD 95.00 0 NM_003824.3/ interpretable range CS1>95%
    FAS 95.00 0 NM_000043.5/ interpretable range CS1>95%
    FASLG 95.00 0 NM_000639.2/ interpretable range CS1>95%
    FAT4 95.00 0 NM_024582.4/ interpretable range CS1>95%
    FCGR3A 95.00 0 NM_000569.7/ interpretable range CS1>95%
    FCHO1 95.00 0 NM_015122.2/ interpretable range CS1>95%
    FCN3 95.00 0 NM_003665.3/ interpretable range CS1>95%
    FERMT1 95.00 0 NM_017671.4/ interpretable range CS1>95%
    FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95%
    FNIP1 95.00 0 NM_133372.2/ interpretable range CS1>95%
    FOXN1 95.00 0 NM_003593.2/ interpretable range CS1>95%
    FOXP3 95.00 0 NM_014009.3/ interpretable range CS1>95%
    G6PC3 95.00 0 NM_138387.3/ interpretable range CS1>95%
    G6PD 95.00 0 NM_001042351.2/ interpretable range CS1>95%
    GATA2 95.00 1 NM_032638.4/ interpretable range CS1>95%
    GFI1 95.00 0 NM_005263.4/ interpretable range CS1>95%
    GIMAP5 95.00 0 NM_018384.4/ interpretable range CS1>95%
    GIMAP6 95.00 0 NM_001244072.1/ interpretable range CS1>95%
    GINS1 95.00 0 NM_021067.4/ interpretable range CS1>95%
    GUCY2C 95.00 0 NM_004963.3/ interpretable range CS1>95%
    HAVCR2 95.00 0 NM_032782.4/ interpretable range CS1>95%
    HAX1 95.00 0 NM_006118.3/ interpretable range CS1>95%
    HCK 95.00 0 NM_002110.3/ interpretable range CS1>95%
    HELLS 95.00 0 NM_018063.4/ interpretable range CS1>95%
    HTRA2 95.00 0 NM_013247.4/ interpretable range CS1>95%
    HYOU1 95.00 0 NM_006389.4/ interpretable range CS1>95%
    ICOS 95.00 0 NM_012092.3/ interpretable range CS1>95%
    IFIH1 95.00 0 NM_022168.3/ interpretable range CS1>95%
    IFNAR1 95.00 0 NM_000629.2/ interpretable range CS1>95%
    IFNAR2 95.00 0 NM_207585.2/ interpretable range CS1>95%
    IFNG 95.00 0 NM_000619.2/ interpretable range CS1>95%
    IFNGR1 95.00 0 NM_000416.2/ interpretable range CS1>95%
    IFNGR2 95.00 0 NM_005534.3/ interpretable range CS1>95%
    IGLL1 95.00 0 NM_020070.3/ interpretable range CS1>95%
    IKBKB 95.00 0 NM_001556.2/ interpretable range CS1>95%
    IKBKG 95.00 0 NM_001099857.2/ interpretable range CS1>95%
    IKZF1 95.00 0 NM_006060.6/ interpretable range CS1>95%
    IKZF2 95.00 0 NM_001079526.1/ interpretable range CS1>95%
    IKZF3 95.00 0 NM_012481.4/ interpretable range CS1>95%
    IL10 95.00 0 NM_000572.2/ interpretable range CS1>95%
    IL10RA 95.00 0 NM_001558.3/ interpretable range CS1>95%
    IL10RB 95.00 0 NM_000628.4/ interpretable range CS1>95%
    IL12B 95.00 0 NM_002187.2/ interpretable range CS1>95%
    IL12RB1 95.00 0 NM_005535.2/ interpretable range CS1>95%
    IL12RB2 95.00 0 NM_001559.2/ interpretable range CS1>95%
    IL17F 95.00 0 NM_052872.3/ interpretable range CS1>95%
    IL17RA 95.00 0 NM_014339.6/ interpretable range CS1>95%
    IL17RC 95.00 0 NM_153461.3/ interpretable range CS1>95%
    IL18BP 95.00 0 NM_173042.2/ interpretable range CS1>95%
    IL1RN 95.00 0 NM_173841.2/ interpretable range CS1>95%
    IL21 95.00 0 NM_021803.3/ interpretable range CS1>95%
    IL21R 95.00 0 NM_021798.3/ interpretable range CS1>95%
    IL23R 95.00 0 NM_144701.2/ interpretable range CS1>95%
    IL2RA 95.00 0 NM_000417.2/ interpretable range CS1>95%
    IL2RB 95.00 0 NM_000878.4/ interpretable range CS1>95%
    IL2RG 95.00 0 NM_000206.2/ interpretable range CS1>95%
    IL36RN 95.00 0 NM_012275.2/ interpretable range CS1>95%
    IL37 95.00 0 NM_014439.3/ interpretable range CS1>95%
    IL6R 95.00 0 NM_000565.3/ interpretable range CS1>95%
    IL6ST 95.00 0 NM_002184.3/ interpretable range CS1>95%
    IL7 95.00 0 NM_000880.3/ interpretable range CS1>95%
    IL7R 95.00 0 NM_002185.4/ interpretable range CS1>95%
    INO80 95.00 0 NM_017553.2/ interpretable range CS1>95%
    IRAK1 95.00 0 NM_001569.3/ interpretable range CS1>95%
    IRAK4 95.00 0 NM_016123.3/ interpretable range CS1>95%
    IRF2BP2 95.00 0 NM_182972.2/ interpretable range CS1>95%
    IRF3 95.00 0 NM_001571.5/ interpretable range CS1>95%
    IRF4 95.00 0 NM_002460.3/ interpretable range CS1>95%
    IRF7 95.00 0 NM_004031.2/ interpretable range CS1>95%
    IRF8 95.00 0 NM_002163.2/ interpretable range CS1>95%
    IRF9 95.00 0 NM_006084.4/ interpretable range CS1>95%
    ISG15 95.00 0 NM_005101.3/ interpretable range CS1>95%
    ITCH 95.00 0 NM_031483.6/ interpretable range CS1>95%
    ITGB2 95.00 0 NM_000211.4/ interpretable range CS1>95%
    ITK 95.00 0 NM_005546.3/ interpretable range CS1>95%
    ITPKB 95.00 0 NM_002221.3/ interpretable range CS1>95%
    ITPKC 95.00 0 NM_025194.2/ interpretable range CS1>95%
    ITPR3 95.00 0 NM_002224.3/ interpretable range CS1>95%
    JAGN1 95.00 0 NM_032492.3/ interpretable range CS1>95%
    JAK1 95.00 0 NM_002227.3/ interpretable range CS1>95%
    JAK3 95.00 0 NM_000215.3/ interpretable range CS1>95%
    KARS1 95.00 0 NM_001130089.1/ interpretable range CS1>95%
    KMT2A 95.00 0 NM_001197104.1/ interpretable range CS1>95%
    KMT2D 95.00 0 NM_003482.3/ interpretable range CS1>95%
    KPNA2 95.00 0 NM_001320611.1/ interpretable range CS1>95%
    KRAS 95.00 0 NM_004985.4/ interpretable range CS1>95%
    LACC1 95.00 0 NM_001128303.2/ interpretable range CS1>95%
    LAMTOR2 95.00 0 NM_014017.3/ interpretable range CS1>95%
    LAT 95.00 0 NM_001014987.1/ interpretable range CS1>95%
    LCK 95.00 0 NM_001042771.2/ interpretable range CS1>95%
    LCP2 95.00 0 NM_005565.4/ interpretable range CS1>95%
    LIG1 95.00 0 NM_000234.2/ interpretable range CS1>95%
    LIG4 95.00 0 NM_002312.3/ interpretable range CS1>95%
    LPIN2 95.00 0 NM_014646.2/ interpretable range CS1>95%
    LRBA 95.00 0 NM_006726.4/ interpretable range CS1>95%
    LRRC32 95.00 0 NM_005512.2/ interpretable range CS1>95%
    LRRC8A 95.00 0 NM_019594.3/ interpretable range CS1>95%
    LSM11 95.00 0 NM_173491.3/ interpretable range CS1>95%
    LYST 95.00 0 NM_000081.3/ interpretable range CS1>95%
    MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95%
    MALT1 95.00 0 NM_006785.3/ interpretable range CS1>95%
    MAN2B2 95.00 0 NM_015274.2/ interpretable range CS1>95%
    MAP1LC3B2 95.00 0 NM_001085481.2/ interpretable range CS1>95%
    MAP3K14 95.00 0 NM_003954.4/ interpretable range CS1>95%
    MAPK8 95.00 0 NM_139049.3/ interpretable range CS1>95%
    MASP2 95.00 0 NM_006610.3/ interpretable range CS1>95%
    MBL2 95.00 0 NM_000242.2/ interpretable range CS1>95%
    MCM10 95.00 0 NM_182751.2/ interpretable range CS1>95%
    MCM4 95.00 0 NM_005914.3/ interpretable range CS1>95%
    MEFV 95.00 0 NM_000243.2/ interpretable range CS1>95%
    MOGS 95.00 0 NM_020831.4/ interpretable range CS1>95%
    MPO 95.00 0 NM_006302.2/ interpretable range CS1>95%
    MRTFA 95.00 0 NM_000250.1/ interpretable range CS1>95%
    MS4A1 95.00 0 NM_152866.2/ interpretable range CS1>95%
    MSN 95.00 0 NM_002444.2/ interpretable range CS1>95%
    MTHFD1 95.00 0 NM_005956.3/ interpretable range CS1>95%
    MVK 95.00 0 NM_000431.3/ interpretable range CS1>95%
    MYD88 95.00 0 NM_002468.4/ interpretable range CS1>95%
    MYO5B 95.00 0 NM_001080467.2/ interpretable range CS1>95%
    MYSM1 95.00 0 NM_001085487.2/ interpretable range CS1>95%
    NBAS 95.00 0 NM_015909.3/ interpretable range CS1>95%
    NCF1 95.00 0 NM_000265.5/ interpretable range CS1>95%
    NCF2 95.00 0 NM_000433.3/ interpretable range CS1>95%
    NCF4 95.00 0 NM_013416.3/ interpretable range CS1>95%
    NCKAP1 95.00 0 NM_205842.2/ interpretable range CS1>95%
    NCKAP1L 95.00 0 NM_005337.4/ interpretable range CS1>95%
    NCSTN 95.00 0 NM_015331.2/ interpretable range CS1>95%
    NFAT5 95.00 0 NM_138714.3/ interpretable range CS1>95%
    NFE2L2 95.00 0 NM_006164.4/ interpretable range CS1>95%
    NFKB1 95.00 0 NM_003998.3/ interpretable range CS1>95%
    NFKB2 95.00 0 NM_001077494.3/ interpretable range CS1>95%
    NFKBIA 95.00 0 NM_020529.2/ interpretable range CS1>95%
    NHEJ1 95.00 0 NM_024782.2/ interpretable range CS1>95%
    NHP2 95.00 0 NM_017838.3/ interpretable range CS1>95%
    NLRC4 95.00 0 NM_021209.4/ interpretable range CS1>95%
    NLRP1 95.00 0 NM_033004.3/ interpretable range CS1>95%
    NLRP12 95.00 0 NM_144687.3/ interpretable range CS1>95%
    NLRP3 95.00 0 NM_004895.4/ interpretable range CS1>95%
    NOD2 95.00 0 NM_022162.2/ interpretable range CS1>95%
    NOP10 95.00 0 NM_018648.3/ interpretable range CS1>95%
    NOS2 95.00 0 NM_000625.4/ interpretable range CS1>95%
    NRAS 95.00 0 NM_002524.4/ interpretable range CS1>95%
    NSMCE3 95.00 0 NM_138704.3/ interpretable range CS1>95%
    OAS1 95.00 0 NM_032790.3/ interpretable range CS1>95%
    ORAI1 95.00 0 NM_014028.3/ interpretable range CS1>95%
    OSTM1 95.00 0 NM_138348.5/ interpretable range CS1>95%
    OTULIN 95.00 0 NM_002582.3/ interpretable range CS1>95%
    PARN 95.00 0 NM_006192.4/ interpretable range CS1>95%
    PAX1 95.00 0 NM_005018.2/ interpretable range CS1>95%
    PDCD1 95.00 0 NM_000285.3/ interpretable range CS1>95%
    PEPD 95.00 0 NM_001199917.1/ interpretable range CS1>95%
    PGM3 95.00 0 NM_058004.3/ interpretable range CS1>95%
    PI4KA 95.00 0 NM_005026.4/ interpretable range CS1>95%
    PIK3CD 95.00 0 NM_002649.3/ interpretable range CS1>95%
    PIK3CG 95.00 0 NM_181523.2/ interpretable range CS1>95%
    PIK3R1 95.00 0 NM_002661.4/ interpretable range CS1>95%
    PLCG2 95.00 0 NM_014798.2/ interpretable range CS1>95%
    PLEKHM1 95.00 0 NM_000535.6/ interpretable range CS1>95%
    PMS2 95.00 0 NM_016937.3/ interpretable range CS1>95%
    PNP 95.00 0 NM_002691.3/ interpretable range CS1>95%
    POLA1 95.00 0 NM_006230.3/ interpretable range CS1>95%
    POLD1 95.00 0 NM_006231.3/ interpretable range CS1>95%
    POLD2 95.00 0 NM_002692.3/ interpretable range CS1>95%
    POLE 95.00 0 NM_007055.3/ interpretable range CS1>95%
    POLE2 95.00 0 NM_001303456.1/ interpretable range CS1>95%
    POLR3A 95.00 0 NM_001282526.1/ interpretable range CS1>95%
    POLR3C 95.00 0 NM_015932.5/ interpretable range CS1>95%
    POLR3E 95.00 0 NM_006235.2/ interpretable range CS1>95%
    POLR3F 95.00 0 NM_001083116.2/ interpretable range CS1>95%
    POMP 95.00 0 NM_015932.6/ interpretable range CS1>95%
    POU2AF1 95.00 0 NM_006254.3/ interpretable range CS1>95%
    PRF1 95.00 0 NM_006904.6/ interpretable range CS1>95%
    PRKCD 95.00 0 NM_172341.3/ interpretable range CS1>95%
    PRKDC 95.00 0 NM_002788.3/ interpretable range CS1>95%
    PSENEN 95.00 0 NM_002801.3/ interpretable range CS1>95%
    PSMA3 95.00 0 NM_002796.2/ interpretable range CS1>95%
    PSMB10 95.00 0 NM_148919.3/ interpretable range CS1>95%
    PSMB4 95.00 0 NM_002800.4/ interpretable range CS1>95%
    PSMB8 95.00 0 NM_147163.1/ interpretable range CS1>95%
    PSMB9 95.00 0 NM_003978.4/ interpretable range CS1>95%
    PSMG2 95.00 0 NM_000314.6/ interpretable range CS1>95%
    PSTPIP1 95.00 0 NM_002828.3/ interpretable range CS1>95%
    PTEN 95.00 0 NM_002838.4/ interpretable range CS1>95%
    PTPN2 95.00 0 NM_004580.4/ interpretable range CS1>95%
    PTPRC 95.00 0 NM_002872.4/ interpretable range CS1>95%
    RAB27A 95.00 0 NM_000448.2/ interpretable range CS1>95%
    RAC2 95.00 0 NM_000536.3/ interpretable range CS1>95%
    RAG1 95.00 0 NM_006267.4/ interpretable range CS1>95%
    RAG2 95.00 0 NM_005739.3/ interpretable range CS1>95%
    RANBP2 95.00 0 NM_031229.3/ interpretable range CS1>95%
    RASGRP1 95.00 0 NM_172071.3/ interpretable range CS1>95%
    RBCK1 95.00 0 NM_004260.3/ interpretable range CS1>95%
    RC3H1 95.00 0 NM_002908.3/ interpretable range CS1>95%
    RECQL4 95.00 0 NM_021975.3/ interpretable range CS1>95%
    REL 95.00 0 NM_006509.3/ interpretable range CS1>95%
    RELA 95.00 0 NM_000449.3/ interpretable range CS1>95%
    RELB 95.00 0 NM_003721.3/ interpretable range CS1>95%
    RFX5 95.00 0 NM_000538.3/ interpretable range CS1>95%
    RFXANK 95.00 0 NM_001665.3/ interpretable range CS1>95%
    RFXAP 95.00 0 NM_004310.4/ interpretable range CS1>95%
    RHOG 95.00 0 NM_003804.5/ interpretable range CS1>95%
    RHOH 95.00 0 NM_006397.2/ interpretable range CS1>95%
    RIGI 95.00 0 NM_014314.4/ interpretable range CS1>95%
    RIPK1 95.00 0 NM_024570.3/ interpretable range CS1>95%
    RNASEH2A 95.00 0 NM_032193.3/ interpretable range CS1>95%
    RNASEH2B 95.00 0 NM_152617.3/ interpretable range CS1>95%
    RNASEH2C 95.00 0 NM_017999.4/ interpretable range CS1>95%
    RNF168 95.00 0 NM_005060.3/ interpretable range CS1>95%
    RNF31 95.00 0 NM_002945.4/ interpretable range CS1>95%
    RORC 95.00 0 NM_002295.5/ interpretable range CS1>95%
    RPA1 95.00 0 NM_002945.5/ interpretable range CS1>95%
    RPSA 95.00 0 NM_032957.4/ interpretable range CS1>95%
    RTEL1 95.00 0 NM_017654.3/ interpretable range CS1>95%
    SAMD9 95.00 0 NM_152703.4/ interpretable range CS1>95%
    SAMD9L 95.00 0 NM_015474.3/ interpretable range CS1>95%
    SAMHD1 95.00 0 NM_018990.3/ interpretable range CS1>95%
    SASH3 95.00 0 NM_016038.3/ interpretable range CS1>95%
    SBDS 95.00 0 NM_013336.3/ interpretable range CS1>95%
    SEC61A1 95.00 0 NM_006378.3/ interpretable range CS1>95%
    SEMA4D 95.00 0 NM_000062.2/ interpretable range CS1>95%
    SERPING1 95.00 1 NM_002351.4/ interpretable range CS1>95%
    SH2D1A 95.00 0 NM_031892.2/ interpretable range CS1>95%
    SH3KBP1 95.00 0 NM_006929.4/ interpretable range CS1>95%
    SKIC2 95.00 0 NM_006929.5/ interpretable range CS1>95%
    SKIC3 95.00 0 NM_014639.4/ interpretable range CS1>95%
    SLC11A1 95.00 0 NM_018344.5/ interpretable range CS1>95%
    SLC29A3 95.00 0 NM_018389.4/ interpretable range CS1>95%
    SLC35C1 95.00 0 NM_001164277.1/ interpretable range CS1>95%
    SLC37A4 95.00 0 NM_006979.2/ interpretable range CS1>95%
    SLC39A7 95.00 0 NM_080669.5/ interpretable range CS1>95%
    SLC46A1 95.00 0 NM_001126106.2/ interpretable range CS1>95%
    SLC7A7 95.00 0 NM_014140.3/ interpretable range CS1>95%
    SMARCAL1 95.00 0 NM_001098426.1/ interpretable range CS1>95%
    SMARCD2 95.00 0 NR_002967.1/ interpretable range CS1>95%
    SNORA31 95.00 0 NM_001199835.1/ interpretable range CS1>95%
    SNX10 95.00 0 NM_003745.1/ interpretable range CS1>95%
    SOCS1 95.00 0 NM_004509.3/ interpretable range CS1>95%
    SP110 95.00 0 NM_004509.5/ interpretable range CS1>95%
    SPI1 95.00 0 NM_001080547.1/ interpretable range CS1>95%
    SPINK5 95.00 0 NM_006846.3/ interpretable range CS1>95%
    SPPL2A 95.00 0 NM_032802.3/ interpretable range CS1>95%
    SRP54 95.00 0 NM_003136.3/ interpretable range CS1>95%
    STAT1 95.00 0 NM_007315.3/ interpretable range CS1>95%
    STAT2 95.00 0 NM_005419.3/ interpretable range CS1>95%
    STAT3 95.00 0 NM_139276.2/ interpretable range CS1>95%
    STAT4 95.00 0 NM_003151.3/ interpretable range CS1>95%
    STAT5B 95.00 0 NM_012448.3/ interpretable range CS1>95%
    STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95%
    STING1 95.00 0 NM_006282.4/ interpretable range CS1>95%
    STK4 95.00 0 NM_024928.4/ interpretable range CS1>95%
    STN1 95.00 0 NM_003764.3/ interpretable range CS1>95%
    STX11 95.00 0 NM_006949.3/ interpretable range CS1>95%
    STXBP2 95.00 0 NM_007269.3/ interpretable range CS1>95%
    STXBP3 95.00 0 NM_003177.6/ interpretable range CS1>95%
    SYK 95.00 0 NM_000593.5/ interpretable range CS1>95%
    TAFAZZIN 95.00 0 NM_000116.5/ interpretable range CS1>95%
    TAP1 95.00 0 NM_001290043.1/ interpretable range CS1>95%
    TAP2 95.00 0 NM_003190.4/ interpretable range CS1>95%
    TAPBP 95.00 0 NM_000116.4/ interpretable range CS1>95%
    TBK1 95.00 0 NM_013254.3/ interpretable range CS1>95%
    TBX1 95.00 0 NM_080647.1/ interpretable range CS1>95%
    TBX21 95.00 0 NM_013351.1/ interpretable range CS1>95%
    TCF3 95.00 0 NM_003200.4/ interpretable range CS1>95%
    TCIRG1 95.00 0 NM_006019.3/ interpretable range CS1>95%
    TCN2 95.00 0 NM_000355.3/ interpretable range CS1>95%
    TERT 95.00 0 NM_198253.2/ interpretable range CS1>95%
    TET2 95.00 0 NM_001127208.2/ interpretable range CS1>95%
    TFRC 95.00 0 NM_003234.3/ interpretable range CS1>95%
    TGFB1 95.00 0 NM_000660.6/ interpretable range CS1>95%
    TGFBR1 95.00 0 NM_004612.3/ interpretable range CS1>95%
    TGFBR2 95.00 0 NM_003242.5/ interpretable range CS1>95%
    THBD 95.00 0 NM_000361.2/ interpretable range CS1>95%
    TICAM1 95.00 0 NM_182919.3/ interpretable range CS1>95%
    TINF2 95.00 0 NM_001099274.1/ interpretable range CS1>95%
    TLR3 95.00 0 NM_003265.2/ interpretable range CS1>95%
    TLR7 95.00 0 NM_016562.3/ interpretable range CS1>95%
    TLR8 95.00 0 NM_138636.5/ interpretable range CS1>95%
    TMC6 95.00 0 NM_007267.7/ interpretable range CS1>95%
    TMC8 95.00 0 NM_152468.4/ interpretable range CS1>95%
    TNFAIP3 95.00 0 NM_198282.3/ interpretable range CS1>95%
    TNFRSF11A 95.00 0 NM_006290.3/ interpretable range CS1>95%
    TNFRSF13B 95.00 0 NM_003839.3/ interpretable range CS1>95%
    TNFRSF13C 95.00 0 NM_012452.2/ interpretable range CS1>95%
    TNFRSF1A 95.00 0 NM_052945.3/ interpretable range CS1>95%
    TNFRSF4 95.00 0 NM_001065.3/ interpretable range CS1>95%
    TNFRSF9 95.00 0 NM_003327.3/ interpretable range CS1>95%
    TNFSF11 95.00 0 NM_001561.5/ interpretable range CS1>95%
    TNFSF12 95.00 0 NM_003701.3/ interpretable range CS1>95%
    TNFSF13 95.00 0 NM_003809.2/ interpretable range CS1>95%
    TOP2B 95.00 0 NM_003808.3/ interpretable range CS1>95%
    TPP2 95.00 0 NM_001068.3/ interpretable range CS1>95%
    TRAF3 95.00 0 NM_003291.3/ interpretable range CS1>95%
    TRAF3IP2 95.00 0 NM_003300.3/ interpretable range CS1>95%
    TREX1 95.00 0 NM_147686.3/ interpretable range CS1>95%
    TRIM22 95.00 0 NM_033629.5/ interpretable range CS1>95%
    TRNT1 95.00 0 NM_006074.4/ interpretable range CS1>95%
    TTC7A 95.00 0 NM_014639.3/ interpretable range CS1>95%
    TYK2 95.00 0 NM_020458.3/ interpretable range CS1>95%
    UBA1 95.00 0 NM_003331.4/ interpretable range CS1>95%
    UNC13D 95.00 0 NM_003334.3/ interpretable range CS1>95%
    UNC93B1 95.00 0 NM_199242.2/ interpretable range CS1>95%
    UNG 95.00 0 NM_030930.3/ interpretable range CS1>95%
    USB1 95.00 0 NM_080911.2/ interpretable range CS1>95%
    USP18 95.00 0 NM_024598.3/ interpretable range CS1>95%
    VPS13B 95.00 0 NM_017414.3/ interpretable range CS1>95%
    VPS45 95.00 0 NM_017890.4/ interpretable range CS1>95%
    WAS 95.00 0 NM_007259.5/ interpretable range CS1>95%
    WDR1 95.00 0 NM_000377.2/ interpretable range CS1>95%
    WIPF1 95.00 0 NM_017491.4/ interpretable range CS1>95%
    WRAP53 95.00 0 NM_001077269.1/ interpretable range CS1>95%
    XIAP 95.00 1 NM_001167.3/ interpretable range CS1>95%
    ZAP70 95.00 0 NM_001079.3/ interpretable range CS1>95%
    ZBTB24 95.00 0 NM_014797.2/ interpretable range CS1>95%
    ZNF341 95.00 0 NM_032819.4/ interpretable range CS1>95%
    ZNFX1 95.00 0 NM_021035.2/ interpretable range CS1>95%
  • Primary immune deficiencies - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACD 100.00 1
    ACP5 100.00 1
    ACTB 100.00 1
    ADA 99.97 1
    ADA2 100.00 1
    ADAM17 99.94 1
    ADAR 99.84 1
    AICDA 99.94 1
    AIRE 99.95 1
    AK2 99.39 1
    ALPI 100.00 1
    AP1S3 100.00 1
    AP3B1 99.89 1
    AP3D1 100.00 1
    APOL1 99.99 1
    ARHGEF1 99.97 1
    ARPC1B 99.92 1
    ATG16L1 99.95 1
    ATG4A 99.86 1
    ATM 99.83 1
    ATP2A2 99.98 1
    ATP6AP1 100.00 1
    B2M 100.00 1
    BACH2 99.99 1
    BCL10 99.74 1
    BCL11B 100.00 1
    BLK 99.98 1
    BLM 99.80 1
    BLNK 99.90 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BTK 99.88 1
    C1QA 99.99 1
    C1QB 99.58 1
    C1QC 99.97 1
    C1R 99.99 1
    C1S 99.98 1
    C2 99.99 1
    C2orf69 99.97 1
    C3 100.00 1
    C4A 21.28 1
    C4BPA 99.95 1
    C5 99.92 1
    C6 99.97 1
    C7 99.94 1
    C8A 99.95 1
    C8B 99.37 1
    C8G 99.99 1
    C9 99.89 1
    CARD11 99.97 1
    CARD14 99.99 1
    CARD9 100.00 1
    CARMIL2 99.99 1
    CASP10 99.85 1
    CASP8 99.92 1
    CBL 99.95 1
    CCBE1 99.52 1
    CCDC28B 99.99 1
    CD19 99.98 1
    CD247 99.79 1
    CD27 99.95 1
    CD3D 100.00 1
    CD3E 100.00 1
    CD3G 100.00 1
    CD4 100.00 1
    CD40 100.00 1
    CD40LG 99.88 1
    CD46 99.86 1
    CD55 74.12 1
    CD59 100.00 1
    CD70 99.99 1
    CD79A 99.97 1
    CD79B 99.93 1
    CD81 99.97 1
    CD8A 99.97 1
    CDC42 98.05 1
    CDCA7 99.88 1
    CEBPE 100.00 1
    CFB 99.97 1
    CFD 99.99 1
    CFH 99.12 1
    CFHR1 84.44 1
    CFHR2 90.26 1
    CFHR3 91.62 1
    CFHR4 99.86 1
    CFHR5 99.68 1
    CFI 99.87 1
    CFP 99.96 1
    CFTR 99.45 1
    CHD7 99.99 1
    CIB1 99.92 1
    CIITA 99.99 1
    CLCN7 99.99 1
    CLEC7A 99.98 1
    CLPB 99.97 1
    COL7A1 99.99 1
    COPA 99.61 1
    CORO1A 91.71 1
    CPT2 99.65 1
    CR2 99.97 1
    CREBBP 99.97 1
    CSF2RA 93.86 1
    CSF2RB 100.00 1
    CSF3R 99.97 1
    CTC1 100.00 1
    CTLA4 99.99 1
    CTNNBL1 100.00 1
    CTPS1 98.63 1
    CTSC 99.97 1
    CXCR4 99.98 1
    CYBA 99.96 1
    CYBB 99.87 1
    CYBC1 100.00 1
    DBR1 99.92 1
    DCLRE1B 99.91 1
    DCLRE1C 99.79 1
    RIGI 99.84 1
    DEF6 100.00 1
    DGKE 99.10 1
    DHFR 98.89 1
    DKC1 99.59 1
    DNAJC21 99.67 1
    DNASE1 100.00 1
    DNASE1L3 99.90 1
    DNASE2 100.00 1
    DNMT3B 99.98 1
    DOCK2 100.00 1
    DOCK8 99.86 1
    DOK3 99.95 1
    DTNBP1 99.89 1
    EFL1 99.83 1
    ELANE 100.00 1
    ELF4 99.97 1
    EPG5 99.95 1
    ERBIN 99.69 1
    ERCC6L2 99.94 1
    EXTL3 99.99 1
    F12 99.99 1
    FAAP24 99.95 1
    FADD 99.97 1
    FAS 99.99 1
    FASLG 99.84 1
    FAT4 99.98 1
    FCGR2B 70.97 1
    FCGR3A 99.93 1
    FCGR3B 95.51 1
    FCHO1 99.99 1
    FCN3 99.48 1
    FERMT1 99.90 1
    FERMT3 99.99 1
    FNIP1 99.87 1
    FOXN1 99.97 1
    FOXP3 99.93 1
    FPR1 100.00 1
    G6PC3 99.98 1
    G6PD 99.97 1
    GATA1 99.97 1
    GATA2 99.99 1
    GFI1 99.88 1
    GIMAP5 100.00 1
    GINS1 99.99 1
    GUCY2C 99.90 1
    HAVCR2 99.93 1
    HAX1 100.00 1
    HELLS 99.78 1
    HMOX1 99.95 1
    HPS1 100.00 1
    HPS4 99.98 1
    HPS6 100.00 1
    HTRA2 99.99 1
    HYOU1 99.97 1
    ICOS 99.95 1
    ICOSLG 5.95 1
    IFIH1 99.84 1
    IFNAR1 99.75 1
    IFNAR2 89.62 1
    IFNG 99.50 1
    IFNGR1 99.87 1
    IFNGR2 99.95 1
    IGHM 100.00 1
    IGKC 99.99 1
    IGLL1 100.00 1
    IKBKB 99.93 1
    IKBKG 57.34 1
    IKZF1 99.92 1
    IL10 100.00 1
    IL10RA 99.99 1
    IL10RB 99.99 1
    IL12B 99.98 1
    IL12RB1 94.11 1
    IL12RB2 97.66 1
    IL15RA 99.96 1
    IL17F 99.99 1
    IL17RA 100.00 1
    IL17RC 100.00 1
    IL18 99.85 1
    IL18BP 99.99 1
    IL1RL1 99.76 1
    IL1RN 99.64 1
    IL21 99.95 1
    IL21R 99.70 1
    IL23R 97.64 1
    IL2RA 99.99 1
    IL2RB 100.00 1
    IL2RG 99.86 1
    IL36RN 100.00 1
    IL6R 92.46 1
    IL6ST 99.88 1
    IL7R 99.99 1
    ILRUN 100.00 1
    INO80 99.96 1
    IRAK1 99.98 1
    IRAK4 98.85 1
    IRF2BP2 100.00 1
    IRF3 99.96 1
    IRF4 99.99 1
    IRF7 100.00 1
    IRF8 99.99 1
    IRF9 100.00 1
    ISG15 100.00 1
    ITCH 95.57 1
    ITGB2 100.00 1
    ITK 99.91 1
    ITPKB 99.99 1
    IVNS1ABP 99.24 1
    JAGN1 100.00 1
    JAK1 99.32 1
    JAK3 99.99 1
    KDM6A 99.74 1
    KMT2A 99.97 1
    KMT2D 99.98 1
    KRAS 99.13 1
    LACC1 99.99 1
    LAMTOR2 99.92 1
    LAT 99.85 1
    LCK 99.56 1
    LCP2 99.58 1
    LIG1 99.93 1
    LIG4 100.00 1
    LIPA 99.96 1
    LPIN2 100.00 1
    LRBA 99.76 1
    LRRC8A 100.00 1
    LSM11 100.00 1
    LYST 99.87 1
    MAGT1 99.54 1
    MALT1 99.71 1
    MAN2B1 99.99 1
    MAP1LC3B2 100.00 1
    MAP3K14 99.98 1
    MAPK8 99.64 1
    MASP1 99.99 1
    MASP2 99.95 1
    MBL2 99.93 1
    MCM10 99.99 1
    MCM4 99.96 1
    MEFV 100.00 1
    MOGS 100.00 1
    MPEG1 100.00 1
    MPO 99.97 1
    MRE11 99.93 1
    MRTFA 92.99 1
    MS4A1 99.60 1
    MSH6 99.97 1
    MSN 99.98 1
    MTHFD1 100.00 1
    MVK 99.97 1
    MYD88 99.99 1
    MYO5B 100.00 1
    MYSM1 94.16 1
    NBAS 99.86 1
    NBN 99.93 1
    NCF1 57.22 1
    NCF2 99.85 1
    NCF4 100.00 1
    NCKAP1L 99.77 1
    NCSTN 99.82 1
    NFAT5 99.93 1
    NFE2L2 99.97 1
    NFKB1 99.80 1
    NFKB2 99.98 1
    NFKBIA 99.99 1
    NHEJ1 99.91 1
    NHP2 99.96 1
    NKX2-5 99.75 1
    NLRC4 99.95 1
    NLRP1 95.26 1
    NLRP12 99.99 1
    NLRP3 100.00 1
    NLRP7 99.99 1
    NOD2 99.98 1
    NOP10 99.99 1
    NOS2 96.11 1
    NPC1 99.99 1
    NRAS 99.66 1
    NSMCE3 100.00 1
    OAS1 99.96 1
    ORAI1 99.63 1
    OSTM1 99.56 1
    OTULIN 99.95 1
    PARN 99.75 1
    PAX1 100.00 1
    PCCA 99.90 1
    PCCB 99.97 1
    PEPD 99.98 1
    PGM3 99.94 1
    PIK3CD 99.99 1
    PIK3CG 99.72 1
    PIK3R1 99.86 1
    PLCG2 99.99 1
    PLEKHM1 99.77 1
    PLG 99.89 1
    PMS2 70.47 1
    PNP 100.00 1
    POLA1 99.57 1
    POLD1 99.96 1
    POLD2 99.95 1
    POLE 99.99 1
    POLE2 99.87 1
    POLR3A 99.97 1
    POLR3C 99.89 1
    POLR3F 99.97 1
    NT5C3A 99.95 1
    PRF1 100.00 1
    PRIM1 99.07 1
    PRKCD 99.96 1
    PRKDC 99.93 1
    PSEN1 100.00 1
    PSENEN 100.00 1
    PSMA3 99.96 1
    PSMB10 99.98 1
    PSMB4 99.83 1
    PSMB8 99.96 1
    PSMB9 99.68 1
    PSMG2 99.98 1
    PSTPIP1 99.91 1
    PSTPIP2 99.98 1
    PTEN 99.89 1
    PTPN11 99.98 1
    PTPN2 99.98 1
    PTPN6 100.00 1
    PTPRC 93.90 1
    RAB27A 99.94 1
    RAC2 99.99 1
    RAG1 100.00 1
    RAG2 100.00 1
    RANBP2 99.37 1
    RASGRP1 100.00 1
    RBCK1 100.00 1
    RC3H1 99.22 1
    RECQL4 100.00 1
    REL 96.99 1
    RELA 99.99 1
    RELB 99.97 1
    RFX5 99.88 1
    RFXANK 100.00 1
    RFXAP 99.98 1
    RHOH 99.99 1
    RIPK1 99.93 1
    RMRP 100.00 1
    RNASEH2A 99.95 1
    RNASEH2B 99.94 1
    RNASEH2C 99.99 1
    RNF168 99.97 1
    RNF31 100.00 1
    RORC 99.42 1
    RPSA 0.00 1
    RTEL1 100.00 1
    SAMD9 99.93 1
    SAMD9L 99.95 1
    SAMHD1 99.98 1
    SASH3 99.99 1
    SBDS 99.93 1
    SDHA 99.98 1
    SEC61A1 99.99 1
    SEMA3E 99.13 1
    SERPING1 100.00 1
    SGPL1 99.95 1
    SH2D1A 98.98 1
    SH3BP2 100.00 1
    SH3KBP1 99.95 1
    SKIC2 99.98 1
    SLC11A1 99.99 1
    SLC29A3 99.98 1
    SLC35C1 100.00 1
    SLC37A4 99.90 1
    SLC39A7 100.00 1
    SLC46A1 100.00 1
    SLC7A7 99.99 1
    SLC9A3 100.00 1
    SMARCAL1 99.97 1
    SMARCD2 99.99 1
    SNX10 99.96 1
    SOCS1 99.98 1
    SOCS4 99.92 1
    PMP22 99.99 1
    SPI1 99.81 1
    SPINK5 99.91 1
    SPPL2A 99.88 1
    SRP54 99.83 1
    SRP72 99.91 1
    STAT1 99.83 1
    STAT2 99.89 1
    STAT3 99.97 1
    STAT4 99.77 1
    STAT5B 99.50 1
    STAT6 99.87 1
    STIM1 99.99 1
    STING1 99.87 1
    STK4 99.91 1
    STN1 99.88 1
    STX11 100.00 1
    STXBP2 100.00 1
    STXBP3 85.74 1
    SYK 99.96 1
    TAFAZZIN 99.98 1
    TAP1 99.97 1
    TAP2 99.94 1
    TAPBP 99.98 1
    TBK1 99.07 1
    TBX1 99.95 1
    TBX21 99.99 1
    TCF3 100.00 1
    TCIRG1 99.99 1
    TCN2 100.00 1
    TERC 98.59 1
    TERT 100.00 1
    TET2 99.99 1
    TFRC 99.87 1
    TGFB1 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    THBD 100.00 1
    TICAM1 99.99 1
    TINF2 100.00 1
    TIRAP 100.00 1
    TLR3 99.99 1
    TLR4 99.99 1
    TLR7 99.98 1
    TMC6 100.00 1
    TMC8 99.92 1
    TNFAIP3 99.94 1
    TNFRSF11A 100.00 1
    TNFRSF13B 99.43 1
    TNFRSF13C 99.99 1
    TNFRSF1A 100.00 1
    TNFRSF4 100.00 1
    TNFRSF9 99.99 1
    TNFSF11 99.89 1
    TNFSF12 100.00 1
    TNFSF13 100.00 1
    TOP2B 99.72 1
    TPP2 99.89 1
    TRAC 100.00 1
    TRAF3 99.97 1
    TRAF3IP2 100.00 1
    TREX1 100.00 1
    TRIM22 100.00 1
    TRNT1 99.97 1
    SKIC3 99.82 1
    TTC7A 99.77 1
    TYK2 99.99 1
    UBA1 99.93 1
    UNC119 100.00 1
    UNC13D 100.00 1
    UNC93B1 99.75 1
    UNG 100.00 1
    USB1 89.62 1
    USP18 93.05 1
    VAV1 99.99 1
    VPS13B 99.90 1
    VPS45 93.94 1
    WAS 99.90 1
    WDR1 99.99 1
    WIPF1 99.87 1
    WRAP53 100.00 1
    XBP1 99.99 1
    XIAP 99.36 1
    ZAP70 99.95 1
    ZBTB24 99.99 1
    ZNF341 100.00 1
    ZNFX1 99.99 1
  • Respiratory Disorders panel (137 genes) - Ugent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 99.96 1
    ABCC8 99.98 1
    ACVRL1 99.88 1
    AP3B1 99.89 1
    AQP1 99.99 1
    ARHGEF1 99.97 1
    ASAH1 99.90 1
    ASCL1 99.82 1
    ATP13A3 99.84 1
    ATP6AP1 100.00 1
    BDNF 100.00 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BMP10 99.96 1
    BMPR1B 99.61 1
    BMPR2 99.95 1
    CARD11 99.97 1
    CAV1 99.97 1
    CCDC39 99.74 1
    CCDC40 100.00 1
    CD19 99.98 1
    CD81 99.97 1
    CIITA 99.99 1
    CLEC1A 99.97 1
    CLEC7A 99.98 1
    COPA 99.61 1
    CR2 99.97 1
    CSF2RA 93.86 1
    CSF2RB 100.00 1
    CTLA4 99.99 1
    CTNNBL1 100.00 1
    DKC1 99.59 1
    DNAAF1 99.99 1
    DNAAF2 99.91 1
    DNAH11 99.93 1
    DNAH5 99.98 1
    DNAI1 99.92 1
    DNAI2 99.86 1
    DNAH9 99.79 1
    DOCK8 99.86 1
    DTNBP1 99.89 1
    EFEMP2 99.94 1
    EIF2AK4 99.97 1
    ELMOD2 99.80 1
    ELN 99.86 1
    ENG 100.00 1
    ERBIN 99.69 1
    FAM111B 99.98 1
    FARSA 100.00 1
    FARSB 99.64 1
    FBLN5 100.00 1
    FLNA 99.99 1
    FNIP1 99.87 1
    FOXF1 99.99 1
    FOXP3 99.93 1
    GARS1 99.93 1
    GATA2 99.99 1
    GBA1 96.92 1
    GDF2 100.00 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    IKZF1 99.92 1
    IL6R 92.46 1
    IL6ST 99.88 1
    IRF2BP2 100.00 1
    ITCH 95.57 1
    ITGA3 99.86 1
    KCNA5 100.00 1
    KCNK3 100.00 1
    KDR 99.86 1
    LRBA 99.76 1
    LTBP4 99.99 1
    MARS1 99.97 1
    MOGS 100.00 1
    MS4A1 99.60 1
    MUC5B 99.94 1
    NFKB1 99.80 1
    NFKB2 99.98 1
    NKX2-1 100.00 1
    NME8 99.83 1
    NOD2 99.98 1
    NOTCH3 99.99 1
    NSMCE3 100.00 1
    OAS1 99.96 1
    PARN 99.75 1
    PGM3 99.94 1
    PIK3CD 99.99 1
    PIK3CG 99.72 1
    PIK3R1 99.86 1
    POU2AF1 99.43 1
    PTEN 99.89 1
    RAC2 99.99 1
    RFX5 99.88 1
    RFXANK 100.00 1
    RFXAP 99.98 1
    RGPD4 71.96 1
    RSPH4A 99.95 1
    RSPH9 99.99 1
    RTEL1 100.00 1
    SCNN1A 100.00 1
    SCNN1B 99.38 1
    SCNN1G 99.94 1
    SEC61A1 99.99 1
    SERPINA1 100.00 1
    SFTPA1 99.99 1
    SFTPA2 99.81 1
    SFTPB 99.99 1
    SFTPC 99.99 1
    SFTPD 99.62 1
    SH3KBP1 99.95 1
    SLC34A2 99.99 1
    SLC7A7 99.99 1
    SMAD4 99.97 1
    SMAD9 99.99 1
    SMPD1 100.00 1
    SOX17 100.00 1
    SPINK5 99.91 1
    STAT3 99.97 1
    STAT5B 99.50 1
    STING1 99.87 1
    TBX4 99.96 1
    TERC 98.59 1
    TERT 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TINF2 100.00 1
    TNFRSF13B 99.43 1
    TNFRSF13C 99.99 1
    TNFSF12 100.00 1
    TNFSF13 100.00 1
    TRNT1 99.97 1
    TSC1 99.99 1
    TSC2 99.98 1
    ZNF341 100.00 1
  • Skin disorders - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 99.88 1
    AAGAB 100.00 1
    ABCA12 99.94 1
    ABCB6 99.97 1
    ABHD5 99.98 1
    ADAM10 99.88 1
    ADAR 99.84 1
    ADGRE2 98.77 1
    ALDH3A2 99.95 1
    ALOX12B 100.00 1
    ALOXE3 99.98 1
    ALX4 100.00 1
    ANTXR1 99.83 1
    ANTXR2 99.67 1
    AP1S1 99.49 1
    AP3B1 99.89 1
    AP3D1 100.00 1
    APCDD1 99.99 1
    AQP5 99.88 1
    ARHGAP31 100.00 1
    ARSL 99.93 1
    ATP2A2 99.98 1
    ATP6V1B2 99.99 1
    ATP7A 99.87 1
    AXIN2 100.00 1
    BANF1 99.84 1
    BCS1L 99.99 1
    BLM 99.80 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BMS1 85.80 1
    BRAF 99.78 1
    C1QA 99.99 1
    C1QB 99.58 1
    C1QC 99.97 1
    C5 99.92 1
    CARD11 99.97 1
    CARD14 99.99 1
    CASP10 99.85 1
    CASP14 99.86 1
    CASP8 99.92 1
    CAST 99.94 1
    CBL 99.95 1
    CD151 100.00 1
    CDH1 99.98 1
    CDH3 99.98 1
    CDKN1B 100.00 1
    CDKN1C 100.00 1
    CDSN 99.94 1
    CERS3 99.85 1
    CHST8 100.00 1
    CHUK 99.83 1
    CLDN1 99.99 1
    CLDN10 99.97 1
    COG6 99.86 1
    COL17A1 99.98 1
    COL18A1 99.99 1
    COL7A1 99.99 1
    COX7B 99.86 1
    CYP11B1 100.00 1
    CSTB 99.99 1
    CSTA 99.83 1
    CTLA4 99.99 1
    CTSC 99.97 1
    CYLD 99.46 1
    CYP11A1 99.99 1
    CYP21A2 99.85 1
    CYP26C1 99.92 1
    CYP4F22 99.97 1
    DCAF17 99.84 1
    DCLRE1C 99.79 1
    DCPS 99.98 1
    DDB2 100.00 1
    DHCR24 99.93 1
    DIP2B 99.65 1
    DKC1 99.59 1
    DLL4 100.00 1
    DOCK6 100.00 1
    DOCK8 99.86 1
    DPH1 100.00 1
    DSC3 99.73 1
    DSG1 99.35 1
    DSG3 99.97 1
    DSG4 99.91 1
    DSP 100.00 1
    DST 99.52 1
    DSTYK 99.83 1
    DTNBP1 99.89 1
    GLB1 99.92 1
    EDA 99.44 1
    EDAR 99.89 1
    EDARADD 99.98 1
    EDN3 100.00 1
    EDNRA 99.97 1
    EDNRB 99.99 1
    ELOVL4 99.91 1
    ENPP1 99.88 1
    EOGT 99.09 1
    EPG5 99.95 1
    ERCC2 99.98 1
    ERCC3 99.90 1
    ERCC4 99.92 1
    ERCC5 99.99 1
    ERCC6 99.60 1
    ERCC8 99.79 1
    EVC 99.95 1
    EVC2 99.97 1
    EXPH5 99.81 1
    F12 99.99 1
    FAM111B 99.98 1
    FAS 99.99 1
    FASLG 99.84 1
    FECH 99.98 1
    FERMT1 99.90 1
    FGFR1 98.88 1
    FGFR3 100.00 1
    FOXN1 99.97 1
    FZD6 99.95 1
    GBA1 96.92 1
    GINS1 99.99 1
    GJA1 100.00 1
    GJB2 100.00 1
    GJB3 99.99 1
    GJB4 100.00 1
    GJB6 100.00 1
    GPR143 99.60 1
    GREM2 100.00 1
    GRHL2 100.00 1
    GRIN2B 99.99 1
    GTF2E2 100.00 1
    GTF2H5 100.00 1
    HCCS 99.90 1
    HOXC13 99.98 1
    HPGD 99.98 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    HR 99.95 1
    HRAS 100.00 1
    HSPA9 99.96 1
    IFT122 99.98 1
    IFT43 99.97 1
    IKBKG 57.34 1
    IL2RA 99.99 1
    IL31RA 100.00 1
    ITGA3 99.86 1
    ITGA6 99.78 1
    ITGB4 99.99 1
    ITPR2 99.13 1
    JUP 99.94 1
    KCNH1 99.92 1
    KCTD1 99.99 1
    KDF1 99.86 1
    KDSR 99.99 1
    KEAP1 100.00 1
    KIT 99.86 1
    KITLG 99.46 1
    KLHL24 99.90 1
    KRAS 99.13 1
    KREMEN1 99.88 1
    KRT1 99.89 1
    KRT10 100.00 1
    KRT13 99.98 1
    KRT14 99.99 1
    KRT16 100.00 1
    KRT17 100.00 1
    KRT2 99.88 1
    KRT3 99.89 1
    KRT5 99.98 1
    KRT6A 100.00 1
    KRT6B 99.95 1
    KRT6C 96.59 1
    KRT7 99.87 1
    KRT74 99.92 1
    KRT83 100.00 1
    KRT85 99.97 1
    KRT9 100.00 1
    LAMA4 99.90 1
    LAMB3 99.99 1
    LAMC2 99.54 1
    LBR 99.66 1
    LIPH 99.99 1
    LIPN 99.94 1
    LMNA 99.96 1
    LMNB2 99.99 1
    LORICRIN 100.00 1
    LPAR6 99.99 1
    LRMDA 99.87 1
    LRP1 99.94 1
    LYST 99.87 1
    LZTR1 99.46 1
    MBTPS2 99.81 1
    MC1R 100.00 1
    MC2R 100.00 1
    MC4R 100.00 1
    MCM4 99.96 1
    MEN1 99.98 1
    MITF 99.98 1
    MLPH 100.00 1
    MMP1 99.99 1
    MPDU1 99.97 1
    MPLKIP 99.99 1
    MSX1 100.00 1
    MYO5A 99.94 1
    NECTIN1 99.99 1
    NECTIN4 99.97 1
    NF1 99.88 1
    NFKBIA 99.99 1
    NIPAL4 100.00 1
    NLRC4 99.95 1
    NLRP1 95.26 1
    NLRP12 99.99 1
    NLRP3 100.00 1
    NNT 99.87 1
    NOP10 99.99 1
    NOTCH1 99.98 1
    NR5A1 99.92 1
    NRAS 99.66 1
    NSDHL 99.87 1
    OCA2 99.60 1
    OSMR 99.95 1
    PADI3 99.35 1
    PAX3 100.00 1
    PAX6 99.95 1
    PDGFRB 99.99 1
    PEPD 99.98 1
    PEX7 99.72 1
    PGM3 99.94 1
    PHGDH 99.79 1
    PHYH 100.00 1
    PIEZO1 99.98 1
    PIGL 99.98 1
    PIGT 99.95 1
    PKP1 99.98 1
    PLCD1 99.98 1
    PLCG2 99.99 1
    PLEC 100.00 1
    PMVK 99.60 1
    PNPLA1 99.98 1
    PNPLA2 100.00 1
    PNPLA6 99.99 1
    POFUT1 100.00 1
    POGLUT1 99.99 1
    POLA1 99.57 1
    POLH 99.85 1
    POMC 99.99 1
    NT5C3A 99.95 1
    PORCN 99.93 1
    HCRT 99.85 1
    PRKCD 99.96 1
    PRKD1 99.96 1
    PSAT1 99.98 1
    PSENEN 100.00 1
    PSMB8 99.96 1
    PTCH1 99.99 1
    PTEN 99.89 1
    PTPN11 99.98 1
    PTPRF 99.92 1
    RAB27A 99.94 1
    RAD50 99.75 1
    RAF1 99.97 1
    RAG1 100.00 1
    RAG2 100.00 1
    RBM28 99.99 1
    RBPJ 99.96 1
    RECQL4 100.00 1
    RET 99.97 1
    RHBDF2 99.95 1
    RIN2 99.99 1
    RIT1 99.78 1
    RMRP 100.00 1
    RSPO1 99.99 1
    SCN9A 99.83 1
    SDR9C7 99.99 1
    SERPINB7 99.93 1
    SERPINB8 99.98 1
    SERPING1 100.00 1
    SGPL1 99.95 1
    SHOC2 99.96 1
    SLC24A5 99.99 1
    SLC27A4 100.00 1
    SLC29A3 99.98 1
    SLC39A4 100.00 1
    SLC45A2 100.00 1
    SLURP1 100.00 1
    SMARCA2 99.95 1
    SMARCAD1 99.86 1
    SNAI2 100.00 1
    SNAP29 99.85 1
    SNRPE 99.26 1
    SOS1 99.68 1
    SOS2 99.39 1
    SOX10 100.00 1
    SOX18 100.00 1
    SPINK5 99.91 1
    SPINT1 100.00 1
    SPRED1 99.99 1
    SRD5A3 99.94 1
    ST14 100.00 1
    ST3GAL5 99.96 1
    STAT3 99.97 1
    STIM1 99.99 1
    STK11 100.00 1
    STS 99.81 1
    SULT2B1 99.92 1
    SUMF1 99.95 1
    TAT 99.99 1
    TCHH 99.94 1
    TERC 98.59 1
    TGM1 99.82 1
    TGM3 100.00 1
    TGM5 100.00 1
    TINF2 100.00 1
    TP63 99.97 1
    TRPM1 99.96 1
    TRPS1 100.00 1
    TRPV3 99.90 1
    TWIST2 100.00 1
    TXNRD2 99.97 1
    TYRP1 99.97 1
    UBR1 99.93 1
    UROD 99.32 1
    UROS 100.00 1
    USB1 89.62 1
    VCX 96.04 1
    VCX3A 85.19 1
    WDR19 99.80 1
    WDR35 99.92 1
    WNT10A 100.00 1
    XPA 99.68 1
    XPC 99.98 1
    ZMPSTE24 98.70 1