1. Analytes
  2. NLRP1

NLRP1

Analyte Export to PDF
Name:
NLR family pyrin domain containing 1
Symbol:
NLRP1
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
CARD7
CLR17.1
DEFCAP
DKFZp586O1822
KIAA0926
NAC
VAMAS1
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Corneal dystrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AGBL1 99.99 1
    CHRDL1 99.94 1
    CHST6 100.00 1
    COL17A1 99.98 1
    COL3A1 99.87 1
    COL5A1 99.99 1
    COL8A2 99.94 1
    CYP4V2 99.98 1
    DCN 99.42 1
    GRHL2 100.00 1
    GSN 99.93 1
    KERA 99.95 1
    KRT12 99.92 1
    KRT3 99.89 1
    LCAT 99.97 1
    LOXHD1 99.99 1
    NLRP1 95.26 1
    NLRP3 100.00 1
    OVOL2 100.00 1
    PAX6 99.95 1
    PIKFYVE 99.81 1
    PITX2 99.98 1
    PRDM5 99.76 1
    SLC4A11 100.00 1
    SOD1 99.97 1
    STS 99.81 1
    TACSTD2 100.00 1
    TCF4 98.56 1
    TGFBI 99.89 1
    UBIAD1 99.98 1
    VSX1 99.93 1
    ZEB1 100.00 1
    ZNF469 100.00 1
  • Periodic Fever (88 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACP5 0.00 0 ,
    ADAM17 0.00 0 ,
    ADAR 0.00 0 ,
    AP1S3 0.00 0 ,
    CARD14 0.00 0 ,
    CASP1 0.00 0 ,
    CASP10 0.00 0 ,
    CDC42 0.00 0 ,
    CEBPE 0.00 0 ,
    ADA2 0.00 0 ,
    COPA 0.00 0 ,
    RIGI 0.00 0 ,
    DNASE2 0.00 0 ,
    DOCK8 0.00 0 ,
    ELF4 0.00 0 ,
    ADGRE2 0.00 0 ,
    F12 0.00 0 ,
    OTULIN 0.00 0 ,
    FAS 0.00 0 ,
    FASLG 0.00 0 ,
    FBLIM1 0.00 0 ,
    HMOX1 0.00 0 ,
    IFIH1 0.00 0 ,
    IKBKG 0.00 0 ,
    IL10 0.00 0 ,
    IL10RA 0.00 0 ,
    IL10RB 0.00 0 ,
    IL1RN 0.00 0 ,
    IL36RN 0.00 0 ,
    LACC1 0.00 0 ,
    LPIN2 0.00 0 ,
    LSM11 0.00 0 ,
    LYN 0.00 0 ,
    MDFIC 0.00 0 ,
    MEFV 0.00 0 ,
    MVK 0.00 0 ,
    NCKAP1L 0.00 0 ,
    NCSTN 0.00 0 ,
    NLRC4 0.00 0 ,
    NLRP1 0.00 0 ,
    NLRP12 0.00 0 ,
    NLRP3 0.00 0 ,
    NLRP7 0.00 0 ,
    NOD2 0.00 0 ,
    PLCG2 0.00 0 ,
    POLA1 0.00 0 ,
    POMP 0.00 0 ,
    PSENEN 0.00 0 ,
    PSMA3 0.00 0 ,
    PSMB10 0.00 0 ,
    PSMB4 0.00 0 ,
    PSMB8 0.00 0 ,
    PSMB9 0.00 0 ,
    PSMG2 0.00 0 ,
    PSTPIP1 0.00 0 ,
    PTEN 0.00 0 ,
    PYCARD 0.00 0 ,
    RBCK1 0.00 0 ,
    RELA 0.00 0 ,
    RIPK1 0.00 0 ,
    RNASEH2A 0.00 0 ,
    RNASEH2B 0.00 0 ,
    RNASEH2C 0.00 0 ,
    RNF213 0.00 0 ,
    RNF31 0.00 0 ,
    RNU7-1 0.00 0 ,
    SAMD9L 0.00 0 ,
    SAMHD1 0.00 0 ,
    SERPING1 0.00 0 ,
    SH3BP2 0.00 0 ,
    SHARPIN 0.00 0 ,
    SLC29A3 0.00 0 ,
    STAT2 0.00 0 ,
    SYK 0.00 0 ,
    STING1 0.00 0 ,
    TNFAIP3 0.00 0 ,
    TNFRSF11A 0.00 0 ,
    TNFRSF1A 0.00 0 ,
    TNFRSF9 0.00 0 ,
    TRAP1 0.00 0 ,
    TREX1 0.00 0 ,
    TRNT1 0.00 0 ,
    UBA1 0.00 0 ,
    UNC13B 0.00 0 ,
    USP18 0.00 0 ,
    WAS 0.00 0 ,
    WDR1 0.00 0 ,
    XIAP 0.00 0 ,
  • 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
  • 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