1. Analytes
  2. THBD

THBD

Analyte Export to PDF
Name:
thrombomodulin
Symbol:
THBD
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
BDCA-3
CD141
THRM
fetomodulin
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS13 100.00 1 NM_139027.6
    C3 100.00 1 NM_000064.4
    C5 100.00 1 NM_001735.3
    CD46 100.00 1 NM_172351.3
    CFB 100.00 1 NM_001710.6
    CFH 100.00 1 NM_000186.4
    CFHR1 93.00 1 NM_002113.3
    CFHR2 91.00 1 NM_005666.4
    CFHR3 100.00 1 NM_021023.6
    CFHR4 100.00 1 NM_001201550.3
    CFHR5 100.00 1 NM_030787.4
    CFI 100.00 1 NM_000204.5
    DGKE 100.00 1 NM_003647.3
    MMACHC 100.00 1 NM_015506.3
    PLG 100.00 1 NM_000301.5
    THBD 100.00 1 NM_000361.3
  • Hereditary Hemolytic Anemias (52 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    GYPA 93.49 0 hemolytic anemia
    HBG1 94.93 0 hemolytic anemia
    ADAMTS13 95.39 0 hemolytic anemia
    MYB 96.76 0 hemolytic anemia
    PFKFB1 97.48 0 hemolytic anemia
    PIEZO1 97.92 0 hemolytic anemia
    ADA 97.95 0 hemolytic anemia
    PIGA 98.95 0 hemolytic anemia
    CFHR1 99.06 0 hemolytic anemia
    GYPC 99.28 0 hemolytic anemia
    G6PD 99.40 0 hemolytic anemia
    CFHR3 99.87 0 hemolytic anemia
    PGK1 99.88 0 hemolytic anemia
    THBD 99.88 0 hemolytic anemia
    SPTB 99.90 0 hemolytic anemia
    TPI1 99.90 0 hemolytic anemia
    CDAN1 99.91 0 hemolytic anemia
    SEC23B 99.97 0 hemolytic anemia
    SPTA1 99.98 0 hemolytic anemia
    GPI 99.99 0 hemolytic anemia
    AK1 100.00 0 hemolytic anemia
    ALDOA 100.00 0 hemolytic anemia
    ANK1 100.00 0 hemolytic anemia
    BCL11A 100.00 0 hemolytic anemia
    BPGM 100.00 0 hemolytic anemia
    C3 100.00 0 hemolytic anemia
    CD46 100.00 0 hemolytic anemia
    CFB 100.00 0 hemolytic anemia
    CFH 100.00 0 hemolytic anemia
    CFHR4 100.00 0 hemolytic anemia
    CFI 100.00 0 hemolytic anemia
    DGKE 100.00 0 hemolytic anemia
    EPB41 100.00 0 hemolytic anemia
    EPB42 100.00 0 hemolytic anemia
    GATA1 100.00 0 hemolytic anemia
    GSS 100.00 0 hemolytic anemia
    HBB 100.00 0 hemolytic anemia
    HBG2 100.00 0 hemolytic anemia
    HK1 100.00 0 hemolytic anemia
    KLF1 100.00 0 hemolytic anemia
    NT5C3A 100.00 0 hemolytic anemia
    PIGT 100.00 0 hemolytic anemia
    PKLR 100.00 0 hemolytic anemia
    SLC4A1 100.00 0 hemolytic anemia
    STOM 100.00 0 hemolytic anemia
    UGT1A1 100.00 0 hemolytic anemia
  • Nephropathy panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 99.98 1
    ACTG2 99.99 1
    ACTN4 100.00 1
    ADAMTS13 100.00 1
    ADAMTS9 99.94 1
    ADCY10 99.77 1
    AGXT 100.00 1
    AGTR1 99.97 1
    AHI1 99.86 1
    ALDOB 100.00 1
    ALG1 86.66 1
    ALG8 95.49 1
    ALG9 99.73 1
    ALMS1 99.90 1
    ALPL 99.88 1
    ABCD1 100.00 1
    ANKS6 100.00 1
    ANLN 99.85 1
    ANOS1 99.96 1
    AP2S1 99.98 1
    APOA1 100.00 1
    APOA2 99.84 1
    APOL1 99.99 1
    APRT 100.00 1
    AQP2 100.00 1
    ARHGAP24 99.86 1
    ARHGDIA 100.00 1
    ARL13B 99.53 1
    ARL6 99.90 1
    ARSA 99.99 1
    ATP6V0A4 99.93 1
    ATP6V1B1 99.98 1
    ATP7B 100.00 1
    NLRP3 100.00 1
    AVPR2 100.00 1
    B9D1 99.80 1
    B9D2 99.88 1
    BBIP1 99.99 1
    BBS1 100.00 1
    BBS10 99.98 1
    BBS12 100.00 1
    BBS2 99.90 1
    BBS4 99.88 1
    BBS5 99.00 1
    BBS7 99.42 1
    BBS9 99.75 1
    BICC1 99.76 1
    BMP4 100.00 1
    BMP7 100.00 1
    BSND 99.92 1
    C3 100.00 1
    C5 99.92 1
    CA2 99.62 1
    CACNA1S 99.96 1
    CASR 99.99 1
    CC2D2A 99.95 1
    CCDC39 99.74 1
    CCNQ 99.98 1
    CD151 100.00 1
    CD2AP 99.69 1
    CD46 99.86 1
    CDC5L 99.83 1
    CDKN1C 100.00 1
    CEP104 99.99 1
    CEP120 99.90 1
    CEP164 99.99 1
    CEP290 98.10 1
    CEP41 99.99 1
    CEP83 98.68 1
    CFAP418 100.00 1
    CFB 99.97 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
    CHD1L 98.53 1
    CHD7 99.99 1
    CHRM3 100.00 1
    CHRNA3 99.95 1
    CLCN5 99.67 1
    CLCN7 99.99 1
    CLCNKA 99.98 1
    CLCNKB 99.98 1
    CLDN10 99.97 1
    CLDN16 99.98 1
    CLDN19 99.02 1
    CNNM2 99.94 1
    COL4A1 99.99 1
    COL4A3 99.94 1
    COL4A4 99.95 1
    COL4A5 99.64 1
    COQ2 99.90 1
    COQ6 99.94 1
    COQ7 100.00 1
    COQ8A 100.00 1
    COQ8B 99.94 1
    COQ9 99.62 1
    CPLANE1 99.81 1
    CPT2 99.65 1
    CRB2 99.95 1
    CSPP1 98.31 1
    CTNS 100.00 1
    CUBN 99.99 1
    CUL3 99.76 1
    CYP11B2 100.00 1
    CYP24A1 100.00 1
    DAAM2 99.99 1
    DCDC2 99.96 1
    DGKE 99.10 1
    DMP1 99.99 1
    DNAJB11 99.97 1
    DSTYK 99.83 1
    DYNC2H1 99.66 1
    DYNC2I1 99.99 1
    DZIP1L 98.46 1
    EGF 99.96 1
    EGFR 99.68 1
    EHHADH 99.99 1
    EMP2 100.00 1
    ENPP1 99.88 1
    EVC 99.95 1
    EVC2 99.97 1
    EYA1 99.81 1
    FANCA 99.98 1
    FAHD2A 100.00 1
    FAM186B 99.99 1
    FAM20A 100.00 1
    FAN1 99.73 1
    FAT1 99.99 1
    FGA 99.98 1
    FGF20 99.71 1
    FGF23 100.00 1
    FGFR1 100.00 1
    FH 99.95 1
    FLCN 99.51 1
    FN1 99.95 1
    FRAS1 99.97 1
    FREM1 99.98 1
    FREM2 99.97 1
    FXYD2 100.00 1
    G6PC1 99.93 1
    GALNT3 99.52 1
    GALT 100.00 1
    GANAB 99.97 1
    GATA3 99.96 1
    GATM 99.92 1
    GDNF 99.99 1
    GLA 99.90 1
    GLI3 100.00 1
    GLIS2 100.00 1
    GNA11 99.99 1
    GON7 99.92 1
    GPC3 99.60 1
    GRHPR 99.93 1
    GRIP1 99.83 1
    GSN 99.93 1
    HNF1B 100.00 1
    HNF4A 100.00 1
    HOGA1 100.00 1
    HPRT1 97.80 1
    HPSE2 100.00 1
    HSD11B2 99.99 1
    IFT122 99.98 1
    IFT140 100.00 1
    IFT172 99.98 1
    IFT27 100.00 1
    IFT43 99.97 1
    IFT80 99.69 1
    IFT81 94.64 1
    INCENP 99.99 1
    INF2 99.99 1
    INPP5E 99.85 1
    INVS 99.94 1
    IQCB1 99.72 1
    ITGA3 99.86 1
    ITGA8 99.95 1
    ITGB4 99.99 1
    JAG1 100.00 1
    KANK1 99.99 1
    KANK2 99.99 1
    KANK4 99.70 1
    KCNA1 100.00 1
    KCNJ1 100.00 1
    KCNJ10 99.98 1
    KIAA0586 95.75 1
    KIF14 97.80 1
    KIF7 100.00 1
    KL 99.98 1
    KLHL3 99.97 1
    LAGE3 99.99 1
    LAMB2 99.99 1
    LMNA 99.96 1
    LMX1B 100.00 1
    LRIG2 97.97 1
    LRP2 99.86 1
    LRP5 99.95 1
    LRP6 99.91 1
    LYZ 99.86 1
    LZTFL1 100.00 1
    MAGED2 99.98 1
    MAGI2 99.89 1
    MAPKBP1 99.98 1
    MET 99.97 1
    MKKS 100.00 1
    MKS1 99.92 1
    MMACHC 99.98 1
    MUC1 99.98 1
    MYH9 99.95 1
    MYO1E 99.94 1
    NEIL1 99.99 1
    NEK1 99.83 1
    NEK9 99.99 1
    NOTCH2 99.03 1
    NPHP1 99.05 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NPHS1 99.97 1
    NPHS2 99.87 1
    NR3C2 100.00 1
    NUP107 97.46 1
    NUP133 99.45 1
    NUP205 99.92 1
    NUP93 99.87 1
    NXF5 96.29 1
    OCRL 99.89 1
    OFD1 99.68 1
    PAX2 99.99 1
    PAX8 99.99 1
    PBX1 99.88 1
    PCBD1 99.84 1
    PDE6D 99.94 1
    PDSS1 95.70 1
    PDSS2 99.87 1
    PHEX 99.83 1
    PKD1 99.98 1
    PKD2 99.91 1
    PKHD1 99.95 1
    PLCE1 99.98 1
    PLG 99.89 1
    PMM2 99.93 1
    PRKCSH 99.99 1
    PSAP 99.94 1
    PTEN 99.89 1
    PTPRO 99.91 1
    PYGM 99.96 1
    RBM48 99.09 1
    RCOR1 99.97 1
    REN 99.85 1
    RET 99.97 1
    ROBO2 99.80 1
    RPGRIP1 99.95 1
    RPGRIP1L 96.35 1
    RRM2B 99.97 1
    SALL1 100.00 1
    SALL4 100.00 1
    SARS2 99.99 1
    SCARB2 99.99 1
    SCNN1A 100.00 1
    SCNN1B 99.38 1
    SCNN1G 99.94 1
    SDCCAG8 100.00 1
    SDHB 97.32 1
    SDHD 82.93 1
    SEC61A1 99.99 1
    SEC63 99.84 1
    SGPL1 99.95 1
    SIX1 100.00 1
    SIX2 100.00 1
    SIX5 100.00 1
    SLC12A1 99.90 1
    SLC12A3 99.84 1
    SLC22A12 99.99 1
    SLC26A1 100.00 1
    SLC26A3 99.97 1
    SLC2A2 99.96 1
    SLC2A9 99.98 1
    SLC34A1 99.99 1
    SLC34A3 100.00 1
    SLC37A4 99.90 1
    SLC3A1 99.98 1
    SLC41A1 99.98 1
    SLC4A1 99.94 1
    SLC4A4 99.97 1
    SLC7A9 99.97 1
    NHERF1 100.00 1
    SMARCAL1 99.97 1
    SOX17 100.00 1
    SRGAP1 99.68 1
    STRADA 99.98 1
    STX16 100.00 1
    SYNPO 100.00 1
    TBC1D1 99.96 1
    TBC1D8B 99.31 1
    TBX18 99.50 1
    TCTN1 99.92 1
    TCTN2 99.99 1
    TCTN3 99.92 1
    THBD 100.00 1
    TMEM107 100.00 1
    TMEM138 100.00 1
    TMEM216 99.98 1
    TMEM231 88.88 1
    TMEM237 99.30 1
    TMEM67 99.69 1
    TNFRSF25 99.98 1
    TNXB 90.86 1
    TP53RK 81.09 1
    TRAP1 100.00 1
    TRIM32 100.00 1
    TRPC6 99.99 1
    TRPM6 99.93 1
    TSC1 99.99 1
    TSC2 99.98 1
    TTC21B 99.50 1
    TTC8 99.67 1
    UMOD 99.98 1
    UPK3A 100.00 1
    UPK3B 99.62 1
    VDR 99.86 1
    VHL 100.00 1
    VIPAS39 99.87 1
    VPS33B 99.95 1
    WDPCP 99.87 1
    WDR19 99.80 1
    WDR35 99.92 1
    WDR4 99.95 1
    WDR73 99.92 1
    WNK1 99.98 1
    WNK4 99.98 1
    WNT4 99.94 1
    WT1 99.99 1
    XDH 99.97 1
    XPNPEP3 99.99 1
    XPO5 99.89 1
    YRDC 99.85 1
    ZMPSTE24 98.70 1
    ZMYM2 99.88 1
    ZNF423 98.94 1
  • Panel Nephro-ULG-V1
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 97.24 0 ,
    ACTG2 100.00 0 ,
    ACTN4 100.00 0 ,
    ADAMTS13 96.63 0 ,
    ADAMTS9 100.00 0 ,
    ADCY10 100.00 0 ,
    AGT 100.00 0 ,
    AGTR1 100.00 0 ,
    AGXT 100.00 0 ,
    ALDOB 100.00 0 ,
    ALG5 100.00 0 ,
    ALG8 100.00 0 ,
    ALG9 99.28 0 ,
    ALMS1 100.00 0 ,
    ALPL 100.00 0 ,
    AMN 86.23 0 ,
    ANKS6 91.46 0 ,
    ANLN 100.00 0 ,
    ANOS1 94.70 0 ,
    AP2S1 100.00 0 ,
    APOA1 100.00 0 ,
    APOL1 100.00 0 ,
    APRT 100.00 0 ,
    AQP2 100.00 0 ,
    ARHGAP24 99.80 0 ,
    ARHGDIA 100.00 0 ,
    ARL6 100.00 0 ,
    ATP6V0A4 100.00 0 ,
    ATP6V1B1 100.00 0 ,
    ATP7B 100.00 0 ,
    ATXN10 99.92 0 ,
    AVIL 100.00 0 ,
    AVPR2 100.00 0 ,
    B2M 100.00 0 ,
    B9D1 100.00 0 ,
    B9D2 100.00 0 ,
    BBIP1 100.00 0 ,
    BBS1 100.00 0 ,
    BBS10 100.00 0 ,
    BBS12 100.00 0 ,
    BBS2 100.00 0 ,
    BBS4 100.00 0 ,
    BBS5 100.00 0 ,
    BBS7 100.00 0 ,
    BBS9 100.00 0 ,
    BICC1 99.81 0 ,
    BMP4 100.00 0 ,
    BMP7 100.00 0 ,
    BNC2 100.00 0 ,
    BSND 100.00 0 ,
    C3 100.00 0 ,
    CA2 100.00 0 ,
    CASR 100.00 0 ,
    CC2D2A 100.00 0 ,
    CD151 100.00 0 ,
    CD2AP 100.00 0 ,
    CD46 100.00 0 ,
    CDC5L 100.00 0 ,
    CDC73 100.00 0 ,
    CENPF 100.00 0 ,
    CEP164 100.00 0 ,
    CEP290 99.95 0 ,
    CEP41 100.00 0 ,
    CEP55 100.00 0 ,
    CEP83 100.00 0 ,
    CFB 100.00 0 ,
    CFH 100.00 0 ,
    CFHR1 95.06 0 ,
    CFHR3 99.44 0 ,
    CFHR5 100.00 0 ,
    CFI 100.00 0 ,
    CHD1L 99.95 0 ,
    CHD7 100.00 0 ,
    CHRM3 100.00 0 ,
    CHRNA3 99.35 0 ,
    CLCN5 100.00 0 ,
    CLCNKA 100.00 0 ,
    CLCNKB 100.00 0 ,
    CLDN10 100.00 0 ,
    CLDN16 100.00 0 ,
    CLDN19 100.00 0 ,
    CNNM2 99.42 0 ,
    COL4A1 99.52 0 ,
    COL4A3 99.47 0 ,
    COL4A4 100.00 0 ,
    COL4A5 99.90 0 ,
    COL4A6 99.82 0 ,
    COQ2 95.50 0 ,
    COQ6 100.00 0 ,
    COQ8A 100.00 0 ,
    COQ8B 100.00 0 ,
    CRB2 94.59 0 ,
    CSPP1 100.00 0 ,
    CTNS 100.00 0 ,
    CTU2 98.44 0 ,
    CUBN 100.00 0 ,
    CUL3 100.00 0 ,
    CYP24A1 100.00 0 ,
    DAAM2 100.00 0 ,
    DCDC2 100.00 0 ,
    DGKE 100.00 0 ,
    DHCR7 99.99 0 ,
    DIS3L2 100.00 0 ,
    DMP1 100.00 0 ,
    DNAJB11 100.00 0 ,
    DSTYK 100.00 0 ,
    DYNC2H1 99.97 0 ,
    DZIP1L 100.00 0 ,
    EGF 100.00 0 ,
    EGFR 99.63 0 ,
    EHHADH 100.00 0 ,
    EMP2 100.00 0 ,
    EYA1 100.00 0 ,
    FAH 100.00 0 ,
    FAM20A 99.78 0 ,
    CCNQ 82.12 0 ,
    FAN1 100.00 0 ,
    FAT1 100.00 0 ,
    FGA 100.00 0 ,
    FGF20 99.13 0 ,
    FGF23 100.00 0 ,
    FH 100.00 0 ,
    FLCN 100.00 0 ,
    FN1 99.98 0 ,
    FRAS1 100.00 0 ,
    FREM1 100.00 0 ,
    FREM2 100.00 0 ,
    FXYD2 100.00 0 ,
    G6PC1 100.00 0 ,
    GALT 100.00 0 ,
    GANAB 100.00 0 ,
    GATA3 100.00 0 ,
    GATM 100.00 0 ,
    GLA 100.00 0 ,
    GLI3 100.00 0 ,
    GLIS2 100.00 0 ,
    GNA11 99.87 0 ,
    GPC3 99.84 0 ,
    GREB1L 100.00 0 ,
    GRHPR 100.00 0 ,
    GRIP1 100.00 0 ,
    GSN 100.00 0 ,
    HAAO 100.00 0 ,
    HNF1B 100.00 0 ,
    HNF4A 100.00 0 ,
    HOGA1 100.00 0 ,
    HOXA13 71.26 0 ,
    HPRT1 97.10 0 ,
    HPSE2 100.00 0 ,
    HSD11B2 78.40 0 ,
    IFT122 100.00 0 ,
    IFT140 99.96 0 ,
    IFT172 100.00 0 ,
    IFT27 100.00 0 ,
    IFT80 100.00 0 ,
    INF2 99.98 0 ,
    INVS 100.00 0 ,
    IQCB1 100.00 0 ,
    ITGA3 99.70 0 ,
    ITGA8 99.76 0 ,
    JAG1 99.83 0 ,
    KANK1 100.00 0 ,
    KANK2 100.00 0 ,
    KANK4 100.00 0 ,
    KCNA1 100.00 0 ,
    KCNJ1 100.00 0 ,
    KCNJ10 100.00 0 ,
    KCNJ16 100.00 0 ,
    KDM6A 99.90 0 ,
    KL 95.50 0 ,
    KLHL3 100.00 0 ,
    KMT2D 100.00 0 ,
    KYNU 99.98 0 ,
    LAMA5 98.59 0 ,
    LAMB2 100.00 0 ,
    LIFR 100.00 0 ,
    LMX1B 100.00 0 ,
    LRIG2 99.95 0 ,
    LRP2 100.00 0 ,
    LRP4 99.14 0 ,
    LRP5 97.83 0 ,
    LRP6 100.00 0 ,
    LYZ 100.00 0 ,
    LZTFL1 100.00 0 ,
    MAGED2 99.94 0 ,
    MAGI2 93.63 0 ,
    MAPKBP1 100.00 0 ,
    MET 100.00 0 ,
    MKKS 100.00 0 ,
    MKS1 100.00 0 ,
    MMACHC 100.00 0 ,
    MUC1 100.00 0 ,
    MYH9 100.00 0 ,
    MYO1E 100.00 0 ,
    MYOCD 100.00 0 ,
    NADSYN1 100.00 0 ,
    NEK8 100.00 0 ,
    NIPBL 100.00 0 ,
    NOTCH2 100.00 0 ,
    NPHP1 100.00 0 ,
    NPHP3 99.73 0 ,
    NPHP4 100.00 0 ,
    NPHS1 100.00 0 ,
    NPHS2 100.00 0 ,
    NR3C2 100.00 0 ,
    NRIP1 100.00 0 ,
    NUP107 100.00 0 ,
    NUP133 100.00 0 ,
    NUP160 100.00 0 ,
    NUP205 100.00 0 ,
    NUP85 100.00 0 ,
    NUP93 100.00 0 ,
    NXF5 0.00 0 ,
    OCRL 99.96 0 ,
    OFD1 100.00 0 ,
    PAX2 100.00 0 ,
    PBX1 100.00 0 ,
    PCBD1 92.70 0 ,
    PDE6D 100.00 0 ,
    PDSS2 100.00 0 ,
    PHEX 98.98 0 ,
    PKD1 96.86 0 ,
    PKD2 92.32 0 ,
    PKHD1 100.00 0 ,
    PLCE1 100.00 0 ,
    PLG 100.00 0 ,
    PLVAP 100.00 0 ,
    PMM2 100.00 0 ,
    PODXL 90.59 0 ,
    PRKCSH 100.00 0 ,
    PTPRO 100.00 0 ,
    REN 100.00 0 ,
    RET 99.35 0 ,
    ROBO1 100.00 0 ,
    ROBO2 100.00 0 ,
    ROR2 98.01 0 ,
    RPGRIP1L 99.18 0 ,
    RRAGD 99.90 0 ,
    RRM2B 100.00 0 ,
    SALL1 100.00 0 ,
    SARS2 100.00 0 ,
    SCARB2 100.00 0 ,
    SCNN1A 100.00 0 ,
    SCNN1B 100.00 0 ,
    SCNN1G 100.00 0 ,
    SDCCAG8 100.00 0 ,
    SDHB 100.00 0 ,
    SDHD 100.00 0 ,
    SEC61A1 100.00 0 ,
    SEC63 99.95 0 ,
    SGPL1 99.92 0 ,
    SIX1 100.00 0 ,
    SIX2 100.00 0 ,
    SIX5 93.51 0 ,
    SLC12A1 100.00 0 ,
    SLC12A3 100.00 0 ,
    SLC1A1 100.00 0 ,
    SLC22A12 100.00 0 ,
    SLC26A1 100.00 0 ,
    SLC26A3 100.00 0 ,
    SLC2A2 100.00 0 ,
    SLC2A9 100.00 0 ,
    SLC34A1 100.00 0 ,
    SLC34A3 100.00 0 ,
    SLC3A1 100.00 0 ,
    SLC41A1 100.00 0 ,
    SLC4A1 100.00 0 ,
    SLC4A4 100.00 0 ,
    SLC5A2 100.00 0 ,
    SLC6A19 100.00 0 ,
    SLC7A7 100.00 0 ,
    SLC7A9 100.00 0 ,
    NHERF1 100.00 0 ,
    SLIT2 99.95 0 ,
    SMARCAL1 100.00 0 ,
    SOX17 99.26 0 ,
    STRA6 100.00 0 ,
    STX16 100.00 0 ,
    TBC1D1 100.00 0 ,
    TBC1D8B 100.00 0 ,
    TBX18 99.84 0 ,
    TCTN2 100.00 0 ,
    TCTN3 100.00 0 ,
    TFAP2A 100.00 0 ,
    THBD 100.00 0 ,
    TMEM138 100.00 0 ,
    TMEM216 100.00 0 ,
    TMEM231 100.00 0 ,
    TMEM237 100.00 0 ,
    TMEM260 97.92 0 ,
    TMEM67 100.00 0 ,
    TRAP1 95.57 0 ,
    TRIM32 100.00 0 ,
    TRIM8 100.00 0 ,
    TRPC6 100.00 0 ,
    TRPM6 100.00 0 ,
    TSC1 100.00 0 ,
    TSC2 100.00 0 ,
    TTC21B 50.00 0 ,
    TTC8 100.00 0 ,
    TTR 100.00 0 ,
    TULP3 100.00 0 ,
    UMOD 100.00 0 ,
    UPK3A 100.00 0 ,
    VHL 100.00 0 ,
    VIPAS39 100.00 0 ,
    VPS33B 100.00 0 ,
    WBP11 100.00 0 ,
    WDPCP 100.00 0 ,
    WDR19 100.00 0 ,
    WDR35 100.00 0 ,
    WDR73 100.00 0 ,
    WNK1 100.00 0 ,
    WNK4 100.00 0 ,
    WNT4 93.15 0 ,
    WNT5A 88.79 0 ,
    WT1 95.16 0 ,
    XDH 100.00 0 ,
    XPNPEP3 100.00 0 ,
    XPO5 99.80 0 ,
    ZIC3 100.00 0 ,
    ZMYM2 99.97 0 ,
    ZNF423 100.00 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
  • Stroke - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA1 99.92 1
    ABCC6 98.57 1
    ACAD9 100.00 1
    ACP5 100.00 1
    ACTA2 99.99 1
    ACVRL1 99.88 1
    ADA2 100.00 1
    APP 99.92 1
    ASS1 77.52 1
    ATP7A 99.87 1
    C1R 99.99 1
    CACNA1A 98.16 1
    CBS 17.79 1
    CCM2 99.93 1
    CD59 100.00 1
    COG6 99.86 1
    COL1A1 99.90 1
    COL3A1 99.87 1
    COL4A1 99.99 1
    COL4A2 99.98 1
    COL5A1 99.99 1
    COL5A2 99.86 1
    COQ8A 100.00 1
    CYP21A2 99.91 1
    CST3 100.00 1
    CTSA 99.98 1
    DYRK1B 99.99 1
    EFEMP2 99.94 1
    ENG 100.00 1
    ENPP1 99.88 1
    ESCO2 99.92 1
    F10 99.98 1
    F13A1 99.43 1
    F2 99.99 1
    F5 99.59 1
    F7 100.00 1
    F8A1 21.76 1
    FBN1 99.85 1
    FGA 99.98 1
    FGB 99.93 1
    FGG 99.98 1
    FOXC1 100.00 1
    GAA 100.00 1
    GATA3 99.96 1
    GCDH 100.00 1
    GGCX 99.88 1
    GLA 99.90 1
    GUCY1A1 99.99 1
    HBB 100.00 1
    HSD11B2 99.99 1
    HTRA1 100.00 1
    ITM2B 99.85 1
    IVD 100.00 1
    JAG1 100.00 1
    JAK2 99.52 1
    JAM3 100.00 1
    KNG1 99.99 1
    KRIT1 99.33 1
    LMNA 99.96 1
    MFAP5 99.96 1
    MFN2 99.98 1
    MMACHC 99.98 1
    MMUT 99.68 1
    MTHFR 99.97 1
    MYH11 99.16 1
    NF1 99.88 1
    NOTCH3 99.99 1
    OTC 99.42 1
    PCCA 99.90 1
    PCCB 99.97 1
    PCNT 99.97 1
    PDCD10 99.94 1
    PDE3A 99.97 1
    PKD1 99.98 1
    PLG 99.89 1
    PLOD1 99.93 1
    PLOD3 99.89 1
    PROC 99.98 1
    PROS1 99.84 1
    PTPN11 99.98 1
    RASA1 99.05 1
    SAMHD1 99.98 1
    SERPINE1 99.90 1
    SLC19A2 98.86 1
    SLC2A10 100.00 1
    SMAD3 99.99 1
    SMAD4 99.97 1
    SMARCAL1 99.97 1
    SPARC 99.94 1
    STAT1 99.83 1
    STIM1 99.99 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    THBD 100.00 1
    TREX1 100.00 1
    TSC1 99.99 1
    TSC2 99.98 1
    TTR 100.00 1
    VHL 100.00 1
    YY1AP1 99.98 1
  • Trombosis - Hemostasis (107 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95%
    ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95%
    ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95%
    ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95%
    ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95%
    ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95%
    ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95%
    ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95%
    ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95%
    ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95%
    CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95%
    CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95%
    COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95%
    COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95%
    COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95%
    COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95%
    COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95%
    COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95%
    CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95%
    DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95%
    ENG 95.00 0 NM_000118.3/ interpretable range CS1>95%
    ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95%
    F10 95.00 0 NM_000504.3/ interpretable range CS1>95%
    F11 95.00 0 NM_000128.3/ interpretable range CS1>95%
    F12 95.00 0 NM_000505.3/ interpretable range CS1>95%
    F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95%
    F13B 95.00 0 NM_001994.2/ interpretable range CS1>95%
    F2 95.00 0 NM_000506.3/ interpretable range CS1>95%
    F5 95.00 0 NM_000130.4/ interpretable range CS1>95%
    F7 95.00 0 NM_000131.4/ interpretable range CS1>95%
    F8 95.00 0 NM_000132.3/ interpretable range CS1>95%
    F9 95.00 0 NM_000133.3/ interpretable range CS1>95%
    FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95%
    FGA 95.00 0 NM_021871.2/ interpretable range CS1>95%
    FGB 95.00 0 NM_005141.4/ interpretable range CS1>95%
    FGG 95.00 0 NM_000509.4/ interpretable range CS1>95%
    FLII 95.00 0 NM_002017.4/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95%
    FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95%
    GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95%
    GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95%
    GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95%
    GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95%
    GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95%
    GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95%
    GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95%
    GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95%
    GP9 95.00 0 NM_000174.4/ interpretable range CS1>95%
    HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95%
    HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95%
    HRG 95.00 0 NM_000412.3/ interpretable range CS1>95%
    IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95%
    ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95%
    ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95%
    KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95%
    KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95%
    LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95%
    LYST 95.00 0 NM_000081.3/ interpretable range CS1>95%
    MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95%
    MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95%
    MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95%
    MPL 95.00 0 NM_005373.2/ interpretable range CS1>95%
    MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95%
    NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95%
    NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95%
    P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95%
    PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95%
    PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95%
    PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95%
    PLG 95.00 0 NM_000301.3/ interpretable range CS1>95%
    PROC 95.00 0 NM_000312.3/ interpretable range CS1>95%
    PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95%
    PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95%
    RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95%
    RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95%
    RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95%
    SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95%
    SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95%
    SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95%
    SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95%
    SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95%
    SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95%
    SRC 95.00 0 NM_005417.4/ interpretable range CS1>95%
    STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95%
    STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95%
    TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95%
    TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95%
    THBD 95.00 0 NM_000361.2/ interpretable range CS1>95%
    THPO 95.00 0 NM_000460.3/ interpretable range CS1>95%
    TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95%
    TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95%
    VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95%
    VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95%
    VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95%
    VWF 95.00 0 NM_000552.3/ interpretable range CS1>95%
    WAS 95.00 0 NM_000377.2/ interpretable range CS1>95%
    RAP1B 95.00 -2 NM_015646.6/ interpretable range CS1>95%