1. Analytes
  2. LIG1

LIG1

Analyte Export to PDF
Name:
DNA ligase 1
Symbol:
LIG1
XREF(s):
OMIM
HGNC
ORPHANET
Created:
09 Mar 2022 - 13:38
Changed:
09 Mar 2022 - 13:39
  • Early onset epileptic encephalopathy (845 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 100.00 0 No comment
    AARS1 100.00 0 No comment
    AARS2 99.75 0 No comment
    AASS 100.00 0 No comment
    ABAT 100.00 0 No comment
    ABCB1 100.00 0 No comment
    ABCC8 100.00 0 No comment
    ABCD1 97.56 0 No comment
    ACADM 99.87 0 No comment
    ACADS 97.51 0 No comment
    ACADSB 100.00 0 No comment
    ACO2 100.00 0 No comment
    ACOX1 100.00 0 No comment
    ACSF3 99.86 0 No comment
    ACTB 100.00 0 No comment
    ACTG1 100.00 0 No comment
    ACVR1 100.00 0 No comment
    ACY1 100.00 0 No comment
    ADAR 100.00 0 No comment
    COQ8A 99.92 0 No comment
    ADK 100.00 0 No comment
    ADRA2B 100.00 0 No comment
    ADSL 100.00 0 No comment
    AFG3L2 94.80 0 No comment
    AGA 100.00 0 No comment
    AGTR2 100.00 0 No comment
    AHI1 100.00 0 No comment
    AIFM1 99.98 0 No comment
    AIMP1 99.97 0 No comment
    AKT2 100.00 0 No comment
    AKT3 100.00 0 No comment
    ALDH18A1 100.00 0 No comment
    ALDH3A2 99.94 0 No comment
    ALDH4A1 96.50 0 No comment
    ALDH5A1 84.13 0 No comment
    ALDH7A1 100.00 0 No comment
    ALG1 78.28 0 No comment
    ALG11 100.00 0 No comment
    ALG12 100.00 0 No comment
    ALG13 99.53 0 No comment
    ALG2 99.83 0 No comment
    ALG3 93.20 0 No comment
    ALG6 100.00 0 No comment
    ALG8 100.00 0 No comment
    ALG9 98.18 0 No comment
    ALMS1 99.85 0 No comment
    AMACR 96.78 0 No comment
    AMER1 99.97 0 No comment
    AMT 100.00 0 No comment
    ANKH 100.00 0 No comment
    ANKRD11 100.00 0 No comment
    AP3B2 98.68 0 No comment
    AP4E1 99.99 0 No comment
    APTX 99.96 0 No comment
    AR 100.00 0 No comment
    ARFGEF2 100.00 0 No comment
    ARG1 100.00 0 No comment
    ARHGEF15 100.00 0 No comment
    ARHGEF9 99.92 0 No comment
    ARID1A 97.21 0 No comment
    ARID1B 98.17 0 No comment
    ARL13B 99.98 0 No comment
    ARSA 100.00 0 No comment
    SLURP1 87.81 0 No comment
    ARV1 100.00 0 No comment
    ARX 88.86 0 No comment
    ASAH1 100.00 0 No comment
    ASL 99.96 0 No comment
    ASNS 97.93 0 No comment
    ASPA 100.00 0 No comment
    ASPM 100.00 0 No comment
    ASS1 98.12 0 No comment
    ASXL1 99.93 0 No comment
    ATAD1 100.00 0 No comment
    ATIC 97.39 0 No comment
    ATN1 99.99 0 No comment
    ATP13A2 98.30 0 No comment
    ATP1A2 99.94 0 No comment
    ATP1A3 100.00 0 No comment
    ATP2A2 100.00 0 No comment
    ATP5F1A 99.63 0 No comment
    ATP6AP2 98.57 0 No comment
    ATP6V0A2 99.97 0 No comment
    ATP7A 100.00 0 No comment
    ATPAF2 100.00 0 No comment
    ANTXR1 99.97 0 No comment
    ATRX 99.89 0 No comment
    ATXN10 98.19 0 No comment
    ATXN2 93.25 0 No comment
    AUH 99.24 0 No comment
    AVPR2 99.37 0 No comment
    B3GALNT2 92.96 0 No comment
    B3GNT2 100.00 0 No comment
    B4GALT1 100.00 0 No comment
    BCAP31 99.81 0 No comment
    BCKDHA 99.90 0 No comment
    BCKDHB 100.00 0 No comment
    BCKDK 100.00 0 No comment
    BCS1L 100.00 0 No comment
    BOLA3 80.60 0 No comment
    BRAF 96.83 0 No comment
    BRAT1 99.93 0 No comment
    BRD2 94.60 0 No comment
    BSCL2 100.00 0 No comment
    BTD 100.00 0 No comment
    BUB1B 100.00 0 No comment
    TWNK 100.00 0 No comment
    C12ORF57 100.00 0 No comment
    MTRFR 100.00 0 No comment
    CPLANE1 100.00 0 No comment
    CACNA1A 99.53 0 No comment
    CACNA1D 99.81 0 No comment
    CACNA1G 99.97 0 No comment
    CACNA1H 98.10 0 No comment
    CACNA2D1 100.00 0 No comment
    CACNA2D2 95.58 0 No comment
    CACNB4 99.95 0 No comment
    CAD 100.00 0 No comment
    CARS2 98.73 0 No comment
    KNL1 97.89 0 No comment
    CASK 99.99 0 No comment
    CASQ2 99.96 0 No comment
    CASR 100.00 0 No comment
    CBL 100.00 0 No comment
    CBS 99.85 0 No comment
    CC2D2A 100.00 0 No comment
    CCBE1 99.32 0 No comment
    CCDC88C 99.64 0 No comment
    CCL2 100.00 0 No comment
    CCM2 99.47 0 No comment
    CDK5RAP2 100.00 0 No comment
    CDKL5 99.77 0 No comment
    CDON 100.00 0 No comment
    CELSR1 95.69 0 No comment
    CENPJ 100.00 0 No comment
    CEP135 99.96 0 No comment
    CEP152 100.00 0 No comment
    CEP164 99.89 0 No comment
    CEP290 100.00 0 No comment
    CEP41 100.00 0 No comment
    CEP63 100.00 0 No comment
    CERS1 87.45 0 No comment
    CHD2 100.00 0 No comment
    CHD8 100.00 0 No comment
    CHKB 99.75 0 No comment
    CHMP1A 100.00 0 No comment
    CHRNA2 99.99 0 No comment
    CHRNA4 94.66 0 No comment
    CHRNA7 97.02 0 No comment
    CHRNB2 99.44 0 No comment
    CIC 99.22 0 No comment
    CLCN1 100.00 0 No comment
    CLCN2 100.00 0 No comment
    CLCN4 100.00 0 No comment
    CLCNKA 99.99 0 No comment
    CLCNKB 99.96 0 No comment
    CLDN16 100.00 0 No comment
    CLIC2 99.96 0 No comment
    CLN3 100.00 0 No comment
    CLN5 98.80 0 No comment
    CLN6 100.00 0 No comment
    CLN8 100.00 0 No comment
    CLPP 97.95 0 No comment
    CNKSR2 99.82 0 No comment
    CNNM2 100.00 0 No comment
    CNTN2 100.00 0 No comment
    CNTNAP2 99.10 0 No comment
    COA5 100.00 0 No comment
    COG1 99.01 0 No comment
    COG4 100.00 0 No comment
    COG5 99.95 0 No comment
    COG6 100.00 0 No comment
    COG7 100.00 0 No comment
    COG8 99.96 0 No comment
    COL18A1 99.86 0 No comment
    COL4A1 98.48 0 No comment
    COL4A2 100.00 0 No comment
    COQ2 99.66 0 No comment
    COQ4 100.00 0 No comment
    COQ6 100.00 0 No comment
    COQ9 100.00 0 No comment
    COX10 100.00 0 No comment
    COX14 100.00 0 No comment
    COX15 99.99 0 No comment
    COX20 95.39 0 No comment
    COX6B1 100.00 0 No comment
    COX8A 100.00 0 No comment
    CYP2A6 100.00 0 No comment
    CYP21A2 100.00 0 No comment
    CPT1A 100.00 0 No comment
    CPT2 98.55 0 No comment
    CRH 99.37 0 No comment
    CRLF1 89.19 0 No comment
    CSNK1G1 100.00 0 No comment
    CSPP1 99.98 0 No comment
    CSTB 98.75 0 No comment
    CTC1 99.70 0 No comment
    CTSA 99.94 0 No comment
    CTSD 93.41 0 No comment
    CTSF 90.14 0 No comment
    CUL4B 99.51 0 No comment
    CYP27A1 99.38 0 No comment
    CYP27B1 99.05 0 No comment
    D2HGDH 99.95 0 No comment
    DARS2 100.00 0 No comment
    DBT 100.00 0 No comment
    DCHS1 99.86 0 No comment
    DCX 99.94 0 No comment
    DDC 100.00 0 No comment
    DDOST 100.00 0 No comment
    DDX3X 100.00 0 No comment
    DENND5A 99.04 0 No comment
    DEPDC5 100.00 0 No comment
    DHCR24 98.73 0 No comment
    DHCR7 99.97 0 No comment
    DHFR 91.86 0 No comment
    DIAPH1 99.95 0 No comment
    DLD 100.00 0 No comment
    DLGAP2 99.95 0 No comment
    DMD 99.96 0 No comment
    DNAJC5 100.00 0 No comment
    DNAJC6 99.98 0 No comment
    DNM1 93.52 0 No comment
    DNM1L 100.00 0 No comment
    DOCK6 99.15 0 No comment
    DOCK7 98.80 0 No comment
    DOLK 100.00 0 No comment
    DPAGT1 100.00 0 No comment
    DPM1 100.00 0 No comment
    DPM2 100.00 0 No comment
    DPM3 100.00 0 No comment
    DPYD 100.00 0 No comment
    DPYS 99.47 0 No comment
    DYNC1H1 99.92 0 No comment
    DYRK1A 100.00 0 No comment
    EARS2 100.00 0 No comment
    ECM1 100.00 0 No comment
    EEF1A2 99.08 0 No comment
    EFHC1 100.00 0 No comment
    EFHC2 99.79 0 No comment
    EFTUD2 99.99 0 No comment
    EHMT1 97.78 0 No comment
    EIF2B1 100.00 0 No comment
    EIF2B2 99.61 0 No comment
    EIF2B3 98.87 0 No comment
    EIF2B4 100.00 0 No comment
    EIF2B5 100.00 0 No comment
    EIF2S3 100.00 0 No comment
    ELOVL4 100.00 0 No comment
    ELP4 100.00 0 No comment
    EML1 98.26 0 No comment
    EMX2 99.97 0 No comment
    EOMES 100.00 0 No comment
    EPG5 100.00 0 No comment
    EPM2A 97.21 0 No comment
    EPRS 100.00 0 No comment
    ERBB4 100.00 0 No comment
    ERLIN2 100.00 0 No comment
    ERMARD 100.00 0 No comment
    ETFA 100.00 0 No comment
    ETFB 100.00 0 No comment
    ETFDH 100.00 0 No comment
    ETHE1 97.84 0 No comment
    EXOC6B 99.94 0 No comment
    EXOSC3 100.00 0 No comment
    EZH2 100.00 0 No comment
    FA2H 95.71 0 No comment
    FADD 90.35 0 No comment
    HYCC1 100.00 0 No comment
    FARS2 100.00 0 No comment
    FASN 99.95 0 No comment
    FASTKD2 100.00 0 No comment
    FAT4 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FGD1 99.24 0 No comment
    FGF12 99.90 0 No comment
    FGF8 94.19 0 No comment
    FGFR3 99.24 0 No comment
    FH 100.00 0 No comment
    FKRP 100.00 0 No comment
    FKTN 100.00 0 No comment
    FLNA 99.75 0 No comment
    FLVCR2 99.87 0 No comment
    FMR1 99.99 0 No comment
    FOLR1 100.00 0 No comment
    FOXG1 92.10 0 No comment
    FOXH1 100.00 0 No comment
    FOXRED1 100.00 0 No comment
    FRRS1L 82.37 0 No comment
    FTL 100.00 0 No comment
    FTO 100.00 0 No comment
    FUCA1 99.91 0 No comment
    GABBR2 96.91 0 No comment
    GABRA1 100.00 0 No comment
    GABRA3 99.59 0 No comment
    GABRB1 99.97 0 No comment
    GABRB2 100.00 0 No comment
    GABRB3 100.00 0 No comment
    GABRD 92.59 0 No comment
    GABRG2 91.70 0 No comment
    GAL 100.00 0 No comment
    GALC 98.98 0 No comment
    GALNS 94.36 0 No comment
    GAMT 97.00 0 No comment
    GATA3 100.00 0 No comment
    GATA6 87.61 0 No comment
    GATAD2B 100.00 0 No comment
    GATM 98.74 0 No comment
    GBA1 100.00 0 No comment
    GCDH 100.00 0 No comment
    GCH1 99.71 0 No comment
    GCK 99.13 0 No comment
    GCM2 100.00 0 No comment
    GCSH 73.97 0 No comment
    GFAP 100.00 0 No comment
    GFM1 100.00 0 No comment
    GJC2 96.72 0 No comment
    GLA 100.00 0 No comment
    GLB1 100.00 0 No comment
    GLDC 97.39 0 No comment
    GLI2 96.28 0 No comment
    GLI3 100.00 0 No comment
    GLRA1 100.00 0 No comment
    GLRB 100.00 0 No comment
    GLUD1 96.22 0 No comment
    GLUL 100.00 0 No comment
    GLYCTK 98.86 0 No comment
    GM2A 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNAO1 100.00 0 No comment
    GNB1 100.00 0 No comment
    GNE 100.00 0 No comment
    GNPTAB 99.91 0 No comment
    GNPTG 95.92 0 No comment
    GNS 100.00 0 No comment
    GOSR2 100.00 0 No comment
    GPC3 99.72 0 No comment
    GPHN 100.00 0 No comment
    ADGRG1 99.99 0 No comment
    ADGRV1 100.00 0 No comment
    GRIA3 99.99 0 No comment
    GRIN1 99.80 0 No comment
    GRIN2A 100.00 0 No comment
    GRIN2B 100.00 0 No comment
    GRIN2D 77.00 0 No comment
    GRINA 100.00 0 No comment
    GRN 100.00 0 No comment
    GSS 100.00 0 No comment
    GTPBP3 99.60 0 No comment
    GUF1 100.00 0 No comment
    GUSB 97.13 0 No comment
    HACE1 98.41 0 No comment
    HADH 100.00 0 No comment
    HAX1 100.00 0 No comment
    HCCS 100.00 0 No comment
    HCFC1 99.85 0 No comment
    HCN1 99.93 0 No comment
    HCN4 97.56 0 No comment
    HDAC4 99.86 0 No comment
    HDAC8 99.75 0 No comment
    HEPACAM 99.85 0 No comment
    HERC2 97.66 0 No comment
    HESX1 100.00 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.19 0 No comment
    HGSNAT 94.10 0 No comment
    HLCS 100.00 0 No comment
    HMBS 100.00 0 No comment
    HMGCL 100.00 0 No comment
    HNRNPH1 100.00 0 No comment
    HNRNPH2 100.00 0 No comment
    HNRNPU 99.82 0 No comment
    HPD 100.00 0 No comment
    HRAS 100.00 0 No comment
    HSD17B10 100.00 0 No comment
    HSD17B4 100.00 0 No comment
    HSPD1 95.18 0 No comment
    HTRA2 100.00 0 No comment
    HYAL1 100.00 0 No comment
    IDH2 93.11 0 No comment
    IDS 99.88 0 No comment
    IDUA 91.86 0 No comment
    IER3IP1 99.44 0 No comment
    ELP1 100.00 0 No comment
    INPP5E 99.14 0 No comment
    INS 97.76 0 No comment
    INSR 96.68 0 No comment
    IQSEC2 98.53 0 No comment
    CRPPA 95.50 0 No comment
    ITPA 100.00 0 No comment
    IVD 100.00 0 No comment
    JAM3 99.88 0 No comment
    JRK 100.00 0 No comment
    KANSL1 100.00 0 No comment
    KAT6B 100.00 0 No comment
    KCNA1 100.00 0 No comment
    KCNA2 100.00 0 No comment
    KCNAB1 100.00 0 No comment
    KCNB1 98.34 0 No comment
    KCNC1 100.00 0 No comment
    KCND2 100.00 0 No comment
    KCNH1 100.00 0 No comment
    KCNH2 98.15 0 No comment
    KCNH5 100.00 0 No comment
    KCNJ1 100.00 0 No comment
    KCNJ10 100.00 0 No comment
    KCNJ11 100.00 0 No comment
    KCNK18 100.00 0 No comment
    KCNMA1 99.93 0 No comment
    KCNQ2 99.92 0 No comment
    KCNQ3 98.20 0 No comment
    KCNT1 98.96 0 No comment
    KCNV2 100.00 0 No comment
    KCTD7 100.00 0 No comment
    KDM5C 99.97 0 No comment
    KDM6A 99.72 0 No comment
    RUBCN 96.60 0 No comment
    KIFBP 100.00 0 No comment
    NEXMIF 100.00 0 No comment
    KIF11 100.00 0 No comment
    KIF2A 99.97 0 No comment
    KIF4A 99.86 0 No comment
    KIF5C 100.00 0 No comment
    KIF7 99.64 0 No comment
    KMT2B 98.33 0 No comment
    KMT2D 99.98 0 No comment
    KPTN 100.00 0 No comment
    KRAS 100.00 0 No comment
    KRIT1 100.00 0 No comment
    L1CAM 99.98 0 No comment
    L2HGDH 99.75 0 No comment
    LAMA2 100.00 0 No comment
    LAMB1 100.00 0 No comment
    LAMC3 98.42 0 No comment
    LARGE1 100.00 0 No comment
    LBR 100.00 0 No comment
    LGI1 100.00 0 No comment
    LIAS 100.00 0 No comment
    LIG1 99.86 0 No comment
    LIG4 100.00 0 No comment
    LMBRD1 100.00 0 No comment
    LMNB2 95.84 0 No comment
    LRFN1 99.79 0 No comment
    LRFN2 100.00 0 No comment
    LRFN3 99.92 0 No comment
    LRFN4 98.83 0 No comment
    LRFN5 100.00 0 No comment
    LRP2 99.71 0 No comment
    LRPPRC 98.80 0 No comment
    MAGI2 94.89 0 No comment
    MAGT1 100.00 0 No comment
    MAN1B1 99.81 0 No comment
    MAP2K1 100.00 0 No comment
    MAP2K2 99.99 0 No comment
    MAPK10 100.00 0 No comment
    MBD5 100.00 0 No comment
    MBOAT7 99.93 0 No comment
    MBTPS2 100.00 0 No comment
    MCCC1 99.77 0 No comment
    MCOLN1 95.75 0 No comment
    MCPH1 99.70 0 No comment
    MDH2 94.63 0 No comment
    ME2 100.00 0 No comment
    MECP2 96.46 0 No comment
    MED12 99.98 0 No comment
    MED17 100.00 0 No comment
    MEF2C 100.00 0 No comment
    MFF 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MGAT2 100.00 0 No comment
    MGME1 100.00 0 No comment
    MLC1 98.57 0 No comment
    MLYCD 96.09 0 No comment
    MMACHC 100.00 0 No comment
    MMADHC 100.00 0 No comment
    MOCS1 99.94 0 No comment
    MOCS2 100.00 0 No comment
    MOGS 98.86 0 No comment
    MPDU1 100.00 0 No comment
    MPDZ 100.00 0 No comment
    MPI 100.00 0 No comment
    MSX2 100.00 0 No comment
    MTHFR 100.00 0 No comment
    MTOR 100.00 0 No comment
    MTR 100.00 0 No comment
    MTRR 100.00 0 No comment
    MMUT 99.99 0 No comment
    MYO5A 99.67 0 No comment
    NAA10 96.95 0 No comment
    NACC1 100.00 0 No comment
    NAGA 100.00 0 No comment
    NAGLU 96.69 0 No comment
    NALCN 100.00 0 No comment
    NARS2 99.88 0 No comment
    NDE1 100.00 0 No comment
    NDP 100.00 0 No comment
    NDUFA1 100.00 0 No comment
    NDUFA10 96.45 0 No comment
    NDUFA11 80.54 0 No comment
    NDUFA12 100.00 0 No comment
    NDUFA2 100.00 0 No comment
    NDUFA9 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFAF2 100.00 0 No comment
    NDUFAF3 100.00 0 No comment
    NDUFAF4 99.26 0 No comment
    NDUFAF5 99.96 0 No comment
    NDUFAF6 95.61 0 No comment
    NDUFB3 98.57 0 No comment
    NDUFS1 100.00 0 No comment
    NDUFS2 100.00 0 No comment
    NDUFS3 100.00 0 No comment
    NDUFS4 99.96 0 No comment
    NDUFS6 100.00 0 No comment
    NDUFS7 93.34 0 No comment
    NDUFS8 100.00 0 No comment
    NDUFV1 99.62 0 No comment
    NDUFV2 100.00 0 No comment
    NECAP1 100.00 0 No comment
    NEDD4L 98.66 0 No comment
    NEU1 100.00 0 No comment
    NF1 98.78 0 No comment
    NFIX 94.60 0 No comment
    NGLY1 99.96 0 No comment
    NHEJ1 100.00 0 No comment
    NHLRC1 96.01 0 No comment
    NIN 100.00 0 No comment
    NIPA2 100.00 0 No comment
    NIPBL 99.48 0 No comment
    NLGN4X 100.00 0 No comment
    NLGN4Y 60.20 0 No comment
    NODAL 99.87 0 No comment
    NOTCH3 93.46 0 No comment
    NPC1 97.50 0 No comment
    NPC2 100.00 0 No comment
    NPHP1 100.00 0 No comment
    NPRL2 100.00 0 No comment
    NPRL3 100.00 0 No comment
    NRAS 100.00 0 No comment
    NRXN1 99.87 0 No comment
    NSD1 100.00 0 No comment
    NSDHL 100.00 0 No comment
    NUBPL 99.92 0 No comment
    OCLN 100.00 0 No comment
    OCRL 98.81 0 No comment
    OFD1 97.13 0 No comment
    OPHN1 99.94 0 No comment
    OTC 99.17 0 No comment
    OTX2 100.00 0 No comment
    PACS2 99.96 0 No comment
    PAFAH1B1 100.00 0 No comment
    PAH 100.00 0 No comment
    PAK3 98.75 0 No comment
    PANK2 100.00 0 No comment
    PAX6 100.00 0 No comment
    PODXL 100.00 0 No comment
    PCBD1 85.60 0 No comment
    PCCA 99.94 0 No comment
    PCCB 99.54 0 No comment
    PCDH19 98.99 0 No comment
    PCNT 99.88 0 No comment
    PDCD10 100.00 0 No comment
    PDE6D 100.00 0 No comment
    PDGFB 97.18 0 No comment
    PDGFRB 99.98 0 No comment
    PDHA1 92.64 0 No comment
    PDHX 100.00 0 No comment
    PDP1 100.00 0 No comment
    PDSS1 85.11 0 No comment
    PDSS2 100.00 0 No comment
    PET100 100.00 0 No comment
    PEX1 100.00 0 No comment
    PEX10 87.10 0 No comment
    PEX11B 100.00 0 No comment
    PEX12 100.00 0 No comment
    PEX13 100.00 0 No comment
    PEX14 99.31 0 No comment
    PEX16 99.97 0 No comment
    PEX19 100.00 0 No comment
    PEX2 100.00 0 No comment
    PEX26 100.00 0 No comment
    PEX3 100.00 0 No comment
    PEX5 100.00 0 No comment
    PEX6 99.74 0 No comment
    PEX7 95.60 0 No comment
    PGAP2 100.00 0 No comment
    PGAP3 98.48 0 No comment
    PGK1 99.88 0 No comment
    PGM1 100.00 0 No comment
    PHF6 100.00 0 No comment
    PHGDH 100.00 0 No comment
    PIGA 98.95 0 No comment
    PIGL 100.00 0 No comment
    PIGM 100.00 0 No comment
    PIGN 100.00 0 No comment
    PIGO 100.00 0 No comment
    PIGP 100.00 0 No comment
    PIGQ 100.00 0 No comment
    PIGT 100.00 0 No comment
    PIGV 100.00 0 No comment
    PIK3AP1 99.71 0 No comment
    PIK3CA 100.00 0 No comment
    PIK3R2 88.52 0 No comment
    PLA2G6 100.00 0 No comment
    PLCB1 100.00 0 No comment
    PLP1 100.00 0 No comment
    PMM2 100.00 0 No comment
    PNKP 99.84 0 No comment
    PNPO 100.00 0 No comment
    POLG 100.00 0 No comment
    POLG2 100.00 0 No comment
    POLR3A 100.00 0 No comment
    POLR3B 100.00 0 No comment
    POMC 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMGNT2 100.00 0 No comment
    POMK 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.53 0 No comment
    PPFIA1 100.00 0 No comment
    PPFIA2 100.00 0 No comment
    PPFIA3 96.20 0 No comment
    PPFIA4 100.00 0 No comment
    PPFIBP1 100.00 0 No comment
    PPFIBP2 100.00 0 No comment
    PPP2R2C 99.91 0 No comment
    PPT1 100.00 0 No comment
    PQBP1 99.91 0 No comment
    PRDM8 88.36 0 No comment
    PRF1 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRICKLE2 100.00 0 No comment
    PRODH 88.26 0 No comment
    PLPBP 99.89 0 No comment
    PRRT2 100.00 0 No comment
    PSAP 100.00 0 No comment
    PSAT1 99.61 0 No comment
    PSPH 100.00 0 No comment
    PTCH1 98.82 0 No comment
    PTEN 99.45 0 No comment
    PTH 100.00 0 No comment
    PTPN11 94.43 0 No comment
    PTS 99.91 0 No comment
    PURA 95.47 0 No comment
    QARS1 100.00 0 No comment
    QDPR 98.39 0 No comment
    RAB18 99.99 0 No comment
    RAB27A 100.00 0 No comment
    RAB39B 100.00 0 No comment
    RAB3GAP1 100.00 0 No comment
    RAB3GAP2 100.00 0 No comment
    RAD21 100.00 0 No comment
    RAF1 100.00 0 No comment
    RAI1 93.59 0 No comment
    RANBP2 95.47 0 No comment
    RANGAP1 100.00 0 No comment
    RARS2 100.00 0 No comment
    RBBP8 99.97 0 No comment
    RBFOX1 98.87 0 No comment
    RBFOX3 98.41 0 No comment
    RELN 100.00 0 No comment
    RFT1 99.87 0 No comment
    RGMA 100.00 0 No comment
    RHOBTB2 100.00 0 No comment
    RNASEH2A 100.00 0 No comment
    RNASEH2B 94.58 0 No comment
    RNASEH2C 100.00 0 No comment
    RNASET2 100.00 0 No comment
    ROGDI 91.40 0 No comment
    RORB 100.00 0 No comment
    RPGRIP1L 96.40 0 No comment
    RPIA 99.96 0 No comment
    RRM2B 100.00 0 No comment
    RTTN 99.98 0 No comment
    RYR3 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SATB2 99.34 0 No comment
    SCARB2 99.99 0 No comment
    SCN10A 100.00 0 No comment
    SCN1A 100.00 0 No comment
    SCN1B 87.40 0 No comment
    SCN2A 100.00 0 No comment
    SCN2B 100.00 0 No comment
    SCN3A 100.00 0 No comment
    SCN3B 100.00 0 No comment
    SCN4A 100.00 0 No comment
    SCN4B 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SCN8A 100.00 0 No comment
    SCN9A 99.99 0 No comment
    SCO2 93.85 0 No comment
    SDHA 95.31 0 No comment
    SDHAF1 90.31 0 No comment
    SEPSECS 99.57 0 No comment
    SERPINI1 100.00 0 No comment
    SETBP1 100.00 0 No comment
    SETD5 100.00 0 No comment
    SGSH 99.85 0 No comment
    SHANK3 90.31 0 No comment
    SHH 99.47 0 No comment
    SHOC2 100.00 0 No comment
    SHROOM4 99.98 0 No comment
    SIK1 100.00 0 No comment
    SIX3 99.61 0 No comment
    SLC12A5 99.86 0 No comment
    SLC12A6 100.00 0 No comment
    SLC13A5 100.00 0 No comment
    SLC16A1 100.00 0 No comment
    SLC16A2 99.97 0 No comment
    SLC17A5 100.00 0 No comment
    SLC19A3 99.90 0 No comment
    SLC1A2 100.00 0 No comment
    SLC1A3 100.00 0 No comment
    SLC20A2 100.00 0 No comment
    SLC25A1 98.83 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A15 100.00 0 No comment
    SLC25A19 100.00 0 No comment
    SLC25A20 100.00 0 No comment
    SLC25A22 100.00 0 No comment
    SLC2A1 100.00 0 No comment
    SLC2A2 99.95 0 No comment
    SLC35A1 100.00 0 No comment
    SLC35A2 100.00 0 No comment
    SLC35A3 100.00 0 No comment
    SLC35C1 100.00 0 No comment
    SLC3A2 90.78 0 No comment
    SLC46A1 99.98 0 No comment
    SLC4A10 99.99 0 No comment
    SLC6A1 100.00 0 No comment
    SLC6A19 99.98 0 No comment
    SLC6A5 100.00 0 No comment
    SLC6A8 99.41 0 No comment
    SLC6A9 100.00 0 No comment
    SLC9A6 99.66 0 No comment
    SLC9A9 100.00 0 No comment
    SMARCA1 98.12 0 No comment
    SMARCA2 98.99 0 No comment
    SMARCA4 100.00 0 No comment
    SMARCB1 100.00 0 No comment
    SMARCE1 98.46 0 No comment
    SMC1A 99.87 0 No comment
    SMC3 100.00 0 No comment
    SMPD1 100.00 0 No comment
    SNAP25 100.00 0 No comment
    SNAP29 100.00 0 No comment
    SNIP1 100.00 0 No comment
    SOS1 100.00 0 No comment
    SOX10 95.36 0 No comment
    SOX2 95.35 0 No comment
    SPRED1 100.00 0 No comment
    SPTAN1 100.00 0 No comment
    SRD5A3 98.61 0 No comment
    SRGAP3 100.00 0 No comment
    SRPX2 99.04 0 No comment
    ST3GAL3 100.00 0 No comment
    ST3GAL5 90.70 0 No comment
    STAMBP 100.00 0 No comment
    STIL 100.00 0 No comment
    STRADA 100.00 0 No comment
    STX1B 99.96 0 No comment
    STXBP1 100.00 0 No comment
    SUCLA2 99.86 0 No comment
    SUCLG1 93.27 0 No comment
    SUMF1 100.00 0 No comment
    SUOX 100.00 0 No comment
    SURF1 82.91 0 No comment
    SYN1 96.00 0 No comment
    SYNGAP1 99.76 0 No comment
    SYNJ1 99.72 0 No comment
    SYP 97.84 0 No comment
    SZT2 99.99 0 No comment
    TACO1 99.66 0 No comment
    TBC1D20 95.06 0 No comment
    TBC1D24 99.99 0 No comment
    TBCE 100.00 0 No comment
    TBL1XR1 100.00 0 No comment
    TBX1 83.55 0 No comment
    TCF4 100.00 0 No comment
    TCF7L2 100.00 0 No comment
    TCTN1 100.00 0 No comment
    TCTN2 100.00 0 No comment
    TCTN3 100.00 0 No comment
    TGIF1 100.00 0 No comment
    TK2 100.00 0 No comment
    TMEM138 100.00 0 No comment
    TMEM165 91.64 0 No comment
    TMEM216 99.87 0 No comment
    TMEM231 100.00 0 No comment
    TMEM237 99.85 0 No comment
    RXYLT1 100.00 0 No comment
    TMEM67 99.95 0 No comment
    TMEM70 100.00 0 No comment
    TNK2 99.86 0 No comment
    ACD 99.99 0 No comment
    TRAK1 100.00 0 No comment
    TREM2 100.00 0 No comment
    TREX1 100.00 0 No comment
    TRPM6 100.00 0 No comment
    TSC1 100.00 0 No comment
    TSC2 99.94 0 No comment
    TSEN2 100.00 0 No comment
    TSEN34 100.00 0 No comment
    TSEN54 91.60 0 No comment
    TTC21B 100.00 0 No comment
    TTN 100.00 0 No comment
    TTR 100.00 0 No comment
    TUBA1A 100.00 0 No comment
    TUBA8 99.98 0 No comment
    TUBB2A 100.00 0 No comment
    TUBB2B 100.00 0 No comment
    TUBB3 99.01 0 No comment
    TUBB4A 100.00 0 No comment
    TUBG1 100.00 0 No comment
    TUSC3 100.00 0 No comment
    TYROBP 100.00 0 No comment
    UBA5 100.00 0 No comment
    UBE2A 100.00 0 No comment
    UBE3A 100.00 0 No comment
    UBR5 100.00 0 No comment
    UPB1 100.00 0 No comment
    VANGL1 100.00 0 No comment
    VARS1 100.00 0 No comment
    VDAC1 95.12 0 No comment
    VLDLR 96.00 0 No comment
    VPS13A 100.00 0 No comment
    VPS13B 100.00 0 No comment
    VPS53 100.00 0 No comment
    VRK1 100.00 0 No comment
    WDR45 100.00 0 No comment
    WDR45B 99.94 0 No comment
    WDR62 100.00 0 No comment
    WFS1 100.00 0 No comment
    WWOX 100.00 0 No comment
    XK 99.44 0 No comment
    YWHAG 100.00 0 No comment
    ZBTB18 99.54 0 No comment
    ZC4H2 100.00 0 No comment
    ZDHHC9 100.00 0 No comment
    ZEB2 99.96 0 No comment
    ZIC2 95.66 0 No comment
    ZNF335 100.00 0 No comment
    ZNF423 100.00 0 No comment
  • Epilepsy gene panel - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 100.00 0 No comment
    AARS1 100.00 0 No comment
    AASS 100.00 0 No comment
    ABAT 100.00 0 No comment
    ABCB1 100.00 0 No comment
    ABCC8 99.81 0 No comment
    ABCD1 99.93 0 No comment
    ACADM 99.94 0 No comment
    ACADS 99.48 0 No comment
    ACADSB 100.00 0 No comment
    ACO2 100.00 0 No comment
    ACOX1 100.00 0 No comment
    ACSF3 100.00 0 No comment
    ACTB 100.00 0 No comment
    ACTG1 100.00 0 No comment
    ACVR1 100.00 0 No comment
    ACY1 100.00 0 No comment
    ADAR 100.00 0 No comment
    ADGRG1 100.00 0 No comment
    ADGRV1 100.00 0 No comment
    ADK 100.00 0 No comment
    ADRA2B 100.00 0 No comment
    ADSL 100.00 0 No comment
    AFG3L2 95.05 0 No comment
    AGA 100.00 0 No comment
    AGTR2 100.00 0 No comment
    AHI1 100.00 0 No comment
    AIFM1 100.00 0 No comment
    AIMP1 100.00 0 No comment
    AKT2 100.00 0 No comment
    AKT3 100.00 0 No comment
    ALDH18A1 100.00 0 No comment
    ALDH3A2 99.95 0 No comment
    ALDH4A1 97.15 0 No comment
    ALDH5A1 83.59 0 No comment
    ALDH7A1 100.00 0 No comment
    ALG1 92.65 0 No comment
    ALG11 100.00 0 No comment
    ALG12 100.00 0 No comment
    ALG13 99.96 0 No comment
    ALG2 99.94 0 No comment
    ALG3 99.22 0 No comment
    ALG6 100.00 0 No comment
    ALG8 95.91 0 No comment
    ALG9 98.65 0 No comment
    ALMS1 100.00 0 No comment
    AMACR 99.83 0 No comment
    AMER1 100.00 0 No comment
    AMT 99.94 0 No comment
    ANKH 100.00 0 No comment
    ANKRD11 100.00 0 No comment
    AP3B2 99.73 0 No comment
    AP4E1 100.00 0 No comment
    APTX 100.00 0 No comment
    AR 99.29 0 No comment
    ARFGEF2 100.00 0 No comment
    ARG1 100.00 0 No comment
    ARHGEF15 100.00 0 No comment
    ARHGEF9 100.00 0 No comment
    ARID1A 94.64 0 No comment
    ARID1B 92.99 0 No comment
    ARL13B 100.00 0 No comment
    ARSA 100.00 0 No comment
    SLURP1 85.73 0 No comment
    ARX 78.98 0 No comment
    ASAH1 99.94 0 No comment
    ASL 100.00 0 No comment
    ASNS 100.00 0 No comment
    ASPA 100.00 0 No comment
    ASPM 100.00 0 No comment
    ASS1 99.87 0 No comment
    ASXL1 99.91 0 No comment
    ATIC 99.06 0 No comment
    ATN1 100.00 0 No comment
    ATP1A2 100.00 0 No comment
    ATP1A3 100.00 0 No comment
    ATP2A2 100.00 0 No comment
    ATP5F1A 100.00 0 No comment
    ATP6AP2 99.95 0 No comment
    ATP6V0A2 100.00 0 No comment
    ATP7A 100.00 0 No comment
    ATPAF2 100.00 0 No comment
    ANTXR1 100.00 0 No comment
    ATRX 100.00 0 No comment
    ATXN10 99.48 0 No comment
    AUH 96.44 0 No comment
    AVPR2 100.00 0 No comment
    B3GALNT2 85.88 0 No comment
    B3GNT2 100.00 0 No comment
    B4GALT1 100.00 0 No comment
    B4GAT1 100.00 0 No comment
    BCAP31 100.00 0 No comment
    BCKDHA 100.00 0 No comment
    BCKDHB 100.00 0 No comment
    BCKDK 100.00 0 No comment
    BCS1L 100.00 0 No comment
    BOLA3 84.43 0 No comment
    BRAF 96.97 0 No comment
    BRAT1 100.00 0 No comment
    BRD2 95.47 0 No comment
    BTD 100.00 0 No comment
    BUB1B 100.00 0 No comment
    C12ORF57 100.00 0 No comment
    MTRFR 100.00 0 No comment
    CACNA1A 98.78 0 No comment
    CACNA1D 100.00 0 No comment
    CACNA1H 97.35 0 No comment
    CACNA2D1 100.00 0 No comment
    CACNA2D2 94.87 0 No comment
    CACNB4 100.00 0 No comment
    CAMK2B 99.93 0 No comment
    CASK 100.00 0 No comment
    CASQ2 100.00 0 No comment
    CASR 100.00 0 No comment
    CBL 100.00 0 No comment
    CBS 100.00 0 No comment
    CC2D2A 98.16 0 No comment
    CCBE1 99.97 0 No comment
    CCDC88C 99.92 0 No comment
    CCL2 100.00 0 No comment
    CCM2 99.98 0 No comment
    CDK5RAP2 100.00 0 No comment
    CDKL5 100.00 0 No comment
    CDON 100.00 0 No comment
    CELSR1 93.72 0 No comment
    CENPJ 100.00 0 No comment
    CEP135 100.00 0 No comment
    CEP152 100.00 0 No comment
    CEP164 100.00 0 No comment
    CEP290 99.99 0 No comment
    CEP41 100.00 0 No comment
    CEP63 95.17 0 No comment
    CERS1 77.89 0 No comment
    CHD2 100.00 0 No comment
    CHD8 100.00 0 No comment
    CHKB 99.69 0 No comment
    CHMP1A 100.00 0 No comment
    CHRNA2 100.00 0 No comment
    CHRNA4 97.18 0 No comment
    CHRNA7 97.88 0 No comment
    CHRNB2 99.92 0 No comment
    CLCN1 100.00 0 No comment
    CLCN2 100.00 0 No comment
    CLCN4 100.00 0 No comment
    CLCNKA 100.00 0 No comment
    CLCNKB 100.00 0 No comment
    CLDN16 100.00 0 No comment
    CLIC2 100.00 0 No comment
    CLN3 100.00 0 No comment
    CLN5 99.94 0 No comment
    CLN6 90.35 0 No comment
    CLN8 100.00 0 No comment
    CLPP 100.00 0 No comment
    CNTN2 100.00 0 No comment
    CNTNAP2 99.85 0 No comment
    COA5 100.00 0 No comment
    COG1 99.24 0 No comment
    COG4 100.00 0 No comment
    COG5 100.00 0 No comment
    COG6 100.00 0 No comment
    COG7 100.00 0 No comment
    COG8 100.00 0 No comment
    COL18A1 97.80 0 No comment
    COL4A1 98.71 0 No comment
    COL4A2 100.00 0 No comment
    COQ2 97.15 0 No comment
    COQ6 100.00 0 No comment
    COQ8A 100.00 0 No comment
    COQ9 99.99 0 No comment
    COX10 100.00 0 No comment
    COX14 100.00 0 No comment
    COX15 100.00 0 No comment
    COX20 98.72 0 No comment
    COX6B1 100.00 0 No comment
    CYP2A6 100.00 0 No comment
    CPLANE1 100.00 0 No comment
    CYP21A2 100.00 0 No comment
    CPT2 98.71 0 No comment
    CRH 100.00 0 No comment
    CRLF1 89.81 0 No comment
    CRPPA 95.75 0 No comment
    CSNK1G1 100.00 0 No comment
    CSPP1 100.00 0 No comment
    CSTB 99.03 0 No comment
    CTC1 100.00 0 No comment
    CTSA 100.00 0 No comment
    CTSD 99.45 0 No comment
    CTSF 87.32 0 No comment
    CUL4B 100.00 0 No comment
    CYP27A1 99.68 0 No comment
    CYP27B1 99.96 0 No comment
    D2HGDH 100.00 0 No comment
    DBT 100.00 0 No comment
    DCHS1 99.64 0 No comment
    DCX 100.00 0 No comment
    DDC 100.00 0 No comment
    DDOST 100.00 0 No comment
    DEPDC5 99.62 0 No comment
    DHCR24 99.96 0 No comment
    DHCR7 100.00 0 No comment
    DHDDS 100.00 0 No comment
    DHFR 99.48 0 No comment
    DLD 100.00 0 No comment
    DLGAP2 100.00 0 No comment
    DMD 100.00 0 No comment
    DNAJC5 100.00 0 No comment
    DNAJC6 100.00 0 No comment
    DNM1 94.44 0 No comment
    DOCK6 99.12 0 No comment
    DOCK7 99.17 0 No comment
    DOLK 100.00 0 No comment
    DPAGT1 100.00 0 No comment
    DPM1 100.00 0 No comment
    DPM2 100.00 0 No comment
    DPM3 100.00 0 No comment
    DPYD 100.00 0 No comment
    DPYS 99.91 0 No comment
    DYNC1H1 100.00 0 No comment
    DYRK1A 100.00 0 No comment
    EARS2 100.00 0 No comment
    ECM1 100.00 0 No comment
    EEF1A2 99.76 0 No comment
    EFHC1 100.00 0 No comment
    EFHC2 100.00 0 No comment
    EFTUD2 100.00 0 No comment
    EHMT1 98.85 0 No comment
    EIF2B1 100.00 0 No comment
    EIF2B2 100.00 0 No comment
    EIF2B3 100.00 0 No comment
    EIF2B4 100.00 0 No comment
    EIF2B5 100.00 0 No comment
    ELOVL4 100.00 0 No comment
    ELP1 100.00 0 No comment
    ELP4 92.12 0 No comment
    EMX2 100.00 0 No comment
    EOMES 98.56 0 No comment
    EPG5 100.00 0 No comment
    EPM2A 85.54 0 No comment
    ERLIN2 100.00 0 No comment
    ERMARD 100.00 0 No comment
    ETFA 100.00 0 No comment
    ETFB 100.00 0 No comment
    ETFDH 100.00 0 No comment
    ETHE1 99.88 0 No comment
    EXOC6B 100.00 0 No comment
    EXOSC3 100.00 0 No comment
    EZH2 100.00 0 No comment
    FA2H 92.06 0 No comment
    FADD 92.08 0 No comment
    HYCC1 100.00 0 No comment
    FARS2 100.00 0 No comment
    FASTKD2 100.00 0 No comment
    FAT4 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FGD1 99.39 0 No comment
    FGF8 94.82 0 No comment
    FGFR3 99.26 0 No comment
    FH 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNA 100.00 0 No comment
    FLVCR2 100.00 0 No comment
    FMR1 100.00 0 No comment
    FOLR1 100.00 0 No comment
    FOXG1 85.88 0 No comment
    FOXH1 100.00 0 No comment
    FTO 100.00 0 No comment
    FUCA1 100.00 0 No comment
    GABBR2 95.78 0 No comment
    GABRA1 100.00 0 No comment
    GABRB2 100.00 0 No comment
    GABRB3 99.79 0 No comment
    GABRD 94.04 0 No comment
    GABRG2 92.03 0 No comment
    GAL 100.00 0 No comment
    GALC 98.44 0 No comment
    GALNS 96.18 0 No comment
    GAMT 98.60 0 No comment
    GATA3 100.00 0 No comment
    GATA6 81.11 0 No comment
    GATM 99.26 0 No comment
    GBA1 100.00 0 No comment
    GCDH 100.00 0 No comment
    GCH1 96.30 0 No comment
    GCK 100.00 0 No comment
    GCM2 100.00 0 No comment
    GCSH 76.04 0 No comment
    GFAP 100.00 0 No comment
    GFM1 100.00 0 No comment
    GJC2 81.91 0 No comment
    GLA 100.00 0 No comment
    GLB1 100.00 0 No comment
    GLDC 96.53 0 No comment
    GLI2 95.11 0 No comment
    GLI3 100.00 0 No comment
    GLRA1 100.00 0 No comment
    GLRB 100.00 0 No comment
    GLUD1 99.45 0 No comment
    GLUL 100.00 0 No comment
    GLYCTK 100.00 0 No comment
    GM2A 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNAO1 100.00 0 No comment
    GNE 100.00 0 No comment
    GNPTAB 100.00 0 No comment
    GNPTG 94.69 0 No comment
    GNS 100.00 0 No comment
    GOSR2 100.00 0 No comment
    GPC3 100.00 0 No comment
    GPHN 100.00 0 No comment
    GRIA3 100.00 0 No comment
    GRIN1 99.97 0 No comment
    GRIN2A 100.00 0 No comment
    GRIN2B 100.00 0 No comment
    GRINA 100.00 0 No comment
    GRN 100.00 0 No comment
    GTPBP3 100.00 0 No comment
    GUSB 100.00 0 No comment
    HADH 100.00 0 No comment
    HAX1 100.00 0 No comment
    HCCS 100.00 0 No comment
    HCFC1 100.00 0 No comment
    HCN1 95.88 0 No comment
    HCN4 92.35 0 No comment
    HDAC4 100.00 0 No comment
    HDAC8 100.00 0 No comment
    HEPACAM 96.82 0 No comment
    HERC2 99.62 0 No comment
    HESX1 100.00 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.82 0 No comment
    HGSNAT 93.95 0 No comment
    HLCS 100.00 0 No comment
    HMBS 100.00 0 No comment
    HNRNPU 99.54 0 No comment
    HPD 100.00 0 No comment
    HRAS 100.00 0 No comment
    HSD17B10 100.00 0 No comment
    HSD17B4 100.00 0 No comment
    HSPD1 99.53 0 No comment
    HYAL1 100.00 0 No comment
    IDH2 92.01 0 No comment
    IDS 100.00 0 No comment
    IDUA 88.67 0 No comment
    IER3IP1 99.93 0 No comment
    INPP5E 99.54 0 No comment
    INS 100.00 0 No comment
    INSR 97.31 0 No comment
    IQSEC2 99.73 0 No comment
    IVD 100.00 0 No comment
    JAM3 100.00 0 No comment
    JRK 100.00 0 No comment
    KANSL1 100.00 0 No comment
    KAT6A 100.00 0 No comment
    KAT6B 100.00 0 No comment
    KCNA1 100.00 0 No comment
    KCNA2 100.00 0 No comment
    KCNAB1 100.00 0 No comment
    KCNB1 99.89 0 No comment
    KCNC1 100.00 0 No comment
    KCND2 100.00 0 No comment
    KCNH1 100.00 0 No comment
    KCNH2 94.44 0 No comment
    KCNH5 100.00 0 No comment
    KCNJ1 100.00 0 No comment
    KCNJ10 100.00 0 No comment
    KCNJ11 100.00 0 No comment
    KCNK18 100.00 0 No comment
    KCNMA1 99.94 0 No comment
    KCNQ2 99.98 0 No comment
    KCNQ3 96.44 0 No comment
    KCNT1 99.74 0 No comment
    KCNV2 100.00 0 No comment
    KCTD7 97.35 0 No comment
    KDM5C 100.00 0 No comment
    KDM6A 100.00 0 No comment
    KIF11 100.00 0 No comment
    KIFBP 100.00 0 No comment
    KIF2A 98.88 0 No comment
    KIF4A 100.00 0 No comment
    KIF5C 100.00 0 No comment
    KIF7 96.94 0 No comment
    KMT2B 97.12 0 No comment
    KMT2D 100.00 0 No comment
    KNL1 98.62 0 No comment
    KPTN 100.00 0 No comment
    KRAS 100.00 0 No comment
    KRIT1 100.00 0 No comment
    L1CAM 100.00 0 No comment
    L2HGDH 99.96 0 No comment
    LAMA2 100.00 0 No comment
    LAMB1 100.00 0 No comment
    LAMC3 97.51 0 No comment
    LARGE1 100.00 0 No comment
    LBR 100.00 0 No comment
    LGI1 100.00 0 No comment
    LIAS 100.00 0 No comment
    LIG1 100.00 0 No comment
    LIG4 100.00 0 No comment
    LMBRD1 100.00 0 No comment
    LRFN1 100.00 0 No comment
    LRFN2 100.00 0 No comment
    LRFN3 99.97 0 No comment
    LRFN4 100.00 0 No comment
    LRFN5 100.00 0 No comment
    LRP2 99.96 0 No comment
    LRPPRC 99.14 0 No comment
    MAGI2 92.73 0 No comment
    MAGT1 100.00 0 No comment
    MAN1B1 99.99 0 No comment
    MAP2K1 100.00 0 No comment
    MAP2K2 99.98 0 No comment
    MAPK10 100.00 0 No comment
    MBD5 100.00 0 No comment
    MBTPS2 100.00 0 No comment
    MCCC1 100.00 0 No comment
    MCOLN1 97.27 0 No comment
    MCPH1 100.00 0 No comment
    ME2 100.00 0 No comment
    MECP2 98.28 0 No comment
    MED12 100.00 0 No comment
    MED17 100.00 0 No comment
    MEF2C 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MGAT2 100.00 0 No comment
    MGME1 100.00 0 No comment
    MLC1 100.00 0 No comment
    MLYCD 85.50 0 No comment
    MMACHC 100.00 0 No comment
    MMADHC 100.00 0 No comment
    MMUT 100.00 0 No comment
    MOCS1 99.95 0 No comment
    MOCS2 100.00 0 No comment
    MOGS 98.73 0 No comment
    MPDU1 100.00 0 No comment
    MPDZ 100.00 0 No comment
    MPI 100.00 0 No comment
    MSX2 100.00 0 No comment
    MTHFR 100.00 0 No comment
    MTOR 100.00 0 No comment
    MTR 100.00 0 No comment
    MTRR 100.00 0 No comment
    MYO5A 99.60 0 No comment
    NAA10 96.03 0 No comment
    NAGA 100.00 0 No comment
    NAGLU 87.38 0 No comment
    NALCN 100.00 0 No comment
    NDE1 100.00 0 No comment
    NDP 100.00 0 No comment
    NDUFA1 100.00 0 No comment
    NDUFA10 95.87 0 No comment
    NDUFA11 98.06 0 No comment
    NDUFA12 100.00 0 No comment
    NDUFA2 100.00 0 No comment
    NDUFA9 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFAF2 100.00 0 No comment
    NDUFAF3 100.00 0 No comment
    NDUFAF4 100.00 0 No comment
    NDUFAF5 100.00 0 No comment
    NDUFAF6 93.73 0 No comment
    NDUFB3 100.00 0 No comment
    NDUFS1 100.00 0 No comment
    NDUFS2 100.00 0 No comment
    NDUFS3 100.00 0 No comment
    NDUFS4 100.00 0 No comment
    NDUFS6 100.00 0 No comment
    NDUFS7 99.49 0 No comment
    NDUFS8 100.00 0 No comment
    NDUFV1 100.00 0 No comment
    NDUFV2 100.00 0 No comment
    NECAP1 100.00 0 No comment
    NEDD4L 100.00 0 No comment
    NEU1 100.00 0 No comment
    NEXMIF 100.00 0 No comment
    NF1 99.95 0 No comment
    NFIX 97.15 0 No comment
    NGLY1 99.98 0 No comment
    NHEJ1 100.00 0 No comment
    NHLRC1 99.73 0 No comment
    NIN 100.00 0 No comment
    NIPA2 100.00 0 No comment
    NIPBL 99.98 0 No comment
    NLGN4X 100.00 0 No comment
    NLGN4Y 55.32 0 No comment
    NODAL 99.99 0 No comment
    NOTCH3 92.99 0 No comment
    NPC1 98.40 0 No comment
    NPC2 100.00 0 No comment
    NPHP1 100.00 0 No comment
    NPRL2 100.00 0 No comment
    NPRL3 100.00 0 No comment
    NRAS 100.00 0 No comment
    NRXN1 98.52 0 No comment
    NSD1 100.00 0 No comment
    NSDHL 100.00 0 No comment
    NTRK2 100.00 0 No comment
    NUBPL 100.00 0 No comment
    NUS1 100.00 0 No comment
    OCLN 100.00 0 No comment
    OCRL 99.77 0 No comment
    OFD1 99.88 0 No comment
    OPHN1 100.00 0 No comment
    OTC 100.00 0 No comment
    OTX2 100.00 0 No comment
    PAFAH1B1 100.00 0 No comment
    PAH 99.94 0 No comment
    PAK3 100.00 0 No comment
    PANK2 98.60 0 No comment
    PAX6 100.00 0 No comment
    PODXL 100.00 0 No comment
    PCBD1 92.74 0 No comment
    PCDH19 99.91 0 No comment
    PCNT 100.00 0 No comment
    PDCD10 100.00 0 No comment
    PDE6D 100.00 0 No comment
    PDGFB 99.77 0 No comment
    PDGFRB 100.00 0 No comment
    PDHA1 98.17 0 No comment
    PDHX 99.87 0 No comment
    PDP1 100.00 0 No comment
    PDSS1 86.24 0 No comment
    PDSS2 100.00 0 No comment
    PET100 100.00 0 No comment
    PEX1 100.00 0 No comment
    PEX10 88.47 0 No comment
    PEX11B 100.00 0 No comment
    PEX12 100.00 0 No comment
    PEX13 100.00 0 No comment
    PEX14 100.00 0 No comment
    PEX16 100.00 0 No comment
    PEX19 100.00 0 No comment
    PEX2 100.00 0 No comment
    PEX26 100.00 0 No comment
    PEX3 100.00 0 No comment
    PEX5 100.00 0 No comment
    PEX6 98.56 0 No comment
    PEX7 91.13 0 No comment
    PGAP2 100.00 0 No comment
    PGAP3 99.90 0 No comment
    PGK1 100.00 0 No comment
    PGM1 100.00 0 No comment
    PHF6 100.00 0 No comment
    PHGDH 100.00 0 No comment
    PIGA 100.00 0 No comment
    PIGL 100.00 0 No comment
    PIGM 100.00 0 No comment
    PIGN 100.00 0 No comment
    PIGO 100.00 0 No comment
    PIGQ 100.00 0 No comment
    PIGV 100.00 0 No comment
    PIK3AP1 99.56 0 No comment
    PIK3CA 100.00 0 No comment
    PIK3R2 89.19 0 No comment
    PLA2G6 100.00 0 No comment
    PLCB1 100.00 0 No comment
    PLP1 100.00 0 No comment
    PMM2 100.00 0 No comment
    PNKP 100.00 0 No comment
    PNPO 100.00 0 No comment
    POLG 100.00 0 No comment
    POLG2 100.00 0 No comment
    POLR3A 100.00 0 No comment
    POLR3B 100.00 0 No comment
    POMC 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMGNT2 100.00 0 No comment
    POMK 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.90 0 No comment
    PPFIA1 100.00 0 No comment
    PPFIA2 100.00 0 No comment
    PPFIA3 98.81 0 No comment
    PPFIA4 100.00 0 No comment
    PPFIBP1 100.00 0 No comment
    PPFIBP2 100.00 0 No comment
    PPP2R2C 100.00 0 No comment
    PPT1 100.00 0 No comment
    PQBP1 100.00 0 No comment
    PRF1 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRICKLE2 100.00 0 No comment
    PRODH 86.43 0 No comment
    PRRT2 100.00 0 No comment
    PSAP 100.00 0 No comment
    PSAT1 100.00 0 No comment
    PTCH1 98.48 0 No comment
    PTEN 98.86 0 No comment
    PTH 100.00 0 No comment
    PTPN11 98.80 0 No comment
    PTS 100.00 0 No comment
    PURA 85.32 0 No comment
    QARS1 100.00 0 No comment
    QDPR 99.04 0 No comment
    RAB18 100.00 0 No comment
    RAB27A 100.00 0 No comment
    RAB39B 100.00 0 No comment
    RAB3GAP1 100.00 0 No comment
    RAB3GAP2 100.00 0 No comment
    RAD21 100.00 0 No comment
    RAF1 100.00 0 No comment
    RAI1 96.06 0 No comment
    RANGAP1 100.00 0 No comment
    RARS2 100.00 0 No comment
    RBBP8 100.00 0 No comment
    RBFOX1 99.94 0 No comment
    RBFOX3 99.96 0 No comment
    RELN 99.96 0 No comment
    RFT1 100.00 0 No comment
    RGMA 99.10 0 No comment
    RHOBTB2 100.00 0 No comment
    RNASEH2A 100.00 0 No comment
    RNASEH2B 95.67 0 No comment
    RNASEH2C 100.00 0 No comment
    RNASET2 99.98 0 No comment
    ROGDI 91.80 0 No comment
    RORB 100.00 0 No comment
    RPGRIP1L 96.45 0 No comment
    RPIA 100.00 0 No comment
    RRM2B 100.00 0 No comment
    RTTN 100.00 0 No comment
    RUBCN 97.68 0 No comment
    RXYLT1 99.84 0 No comment
    RYR3 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SATB2 100.00 0 No comment
    SCARB2 100.00 0 No comment
    SCN10A 100.00 0 No comment
    SCN1A 100.00 0 No comment
    SCN1B 94.12 0 No comment
    SCN2A 100.00 0 No comment
    SCN2B 100.00 0 No comment
    SCN3A 100.00 0 No comment
    SCN3B 100.00 0 No comment
    SCN4A 100.00 0 No comment
    SCN4B 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SCN8A 100.00 0 No comment
    SCN9A 100.00 0 No comment
    SCO2 100.00 0 No comment
    SDHA 98.02 0 No comment
    SDHAF1 96.03 0 No comment
    SEPSECS 99.97 0 No comment
    SERPINI1 100.00 0 No comment
    SETBP1 99.99 0 No comment
    SGSH 99.99 0 No comment
    SHANK3 83.99 0 No comment
    SHH 92.83 0 No comment
    SHOC2 100.00 0 No comment
    SHROOM4 100.00 0 No comment
    SIK1 100.00 0 No comment
    SIX3 99.59 0 No comment
    SLC12A5 100.00 0 No comment
    SLC12A6 100.00 0 No comment
    SLC13A5 100.00 0 No comment
    SLC16A1 100.00 0 No comment
    SLC16A2 100.00 0 No comment
    SLC17A5 100.00 0 No comment
    SLC19A3 100.00 0 No comment
    SLC1A3 100.00 0 No comment
    SLC20A2 100.00 0 No comment
    SLC25A1 93.77 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A15 100.00 0 No comment
    SLC25A19 100.00 0 No comment
    SLC25A20 100.00 0 No comment
    SLC25A22 100.00 0 No comment
    SLC2A1 99.94 0 No comment
    SLC2A2 100.00 0 No comment
    SLC35A1 100.00 0 No comment
    SLC35A2 100.00 0 No comment
    SLC35C1 100.00 0 No comment
    SLC3A2 88.97 0 No comment
    SLC46A1 99.95 0 No comment
    SLC4A10 100.00 0 No comment
    SLC6A1 100.00 0 No comment
    SLC6A5 100.00 0 No comment
    SLC6A8 98.78 0 No comment
    SLC9A6 99.96 0 No comment
    SLC9A9 100.00 0 No comment
    SMARCA1 99.59 0 No comment
    SMARCA2 98.07 0 No comment
    SMARCA4 100.00 0 No comment
    SMARCB1 100.00 0 No comment
    SMARCE1 100.00 0 No comment
    SMC1A 100.00 0 No comment
    SMC3 100.00 0 No comment
    SMPD1 100.00 0 No comment
    SNAP25 100.00 0 No comment
    SNAP29 100.00 0 No comment
    SNIP1 100.00 0 No comment
    SOS1 100.00 0 No comment
    SOX10 96.79 0 No comment
    SOX2 98.05 0 No comment
    SPRED1 100.00 0 No comment
    SPTAN1 100.00 0 No comment
    SRD5A3 99.42 0 No comment
    SRGAP3 100.00 0 No comment
    SRPX2 100.00 0 No comment
    ST3GAL3 100.00 0 No comment
    ST3GAL5 92.64 0 No comment
    STAMBP 100.00 0 No comment
    STIL 100.00 0 No comment
    STRADA 100.00 0 No comment
    STX1B 100.00 0 No comment
    STXBP1 100.00 0 No comment
    SUCLA2 100.00 0 No comment
    SUCLG1 95.74 0 No comment
    SUMF1 100.00 0 No comment
    SUOX 100.00 0 No comment
    SURF1 87.74 0 No comment
    SYN1 95.92 0 No comment
    SYNGAP1 100.00 0 No comment
    SYNJ1 99.96 0 No comment
    SYP 99.27 0 No comment
    SZT2 100.00 0 No comment
    TACO1 99.90 0 No comment
    TBC1D20 93.59 0 No comment
    TBC1D24 100.00 0 No comment
    TBCE 100.00 0 No comment
    TBX1 77.39 0 No comment
    TCF4 100.00 0 No comment
    TCTN1 93.78 0 No comment
    TCTN2 100.00 0 No comment
    TCTN3 100.00 0 No comment
    TGIF1 100.00 0 No comment
    TK2 95.90 0 No comment
    TMEM138 100.00 0 No comment
    TMEM165 89.91 0 No comment
    TMEM216 100.00 0 No comment
    TMEM231 100.00 0 No comment
    TMEM237 99.97 0 No comment
    TMEM67 100.00 0 No comment
    TMEM70 100.00 0 No comment
    TNK2 100.00 0 No comment
    ACD 100.00 0 No comment
    TREM2 100.00 0 No comment
    TREX1 100.00 0 No comment
    TRPM6 100.00 0 No comment
    TSC1 100.00 0 No comment
    TSC2 100.00 0 No comment
    TSEN2 100.00 0 No comment
    TSEN34 100.00 0 No comment
    TSEN54 94.23 0 No comment
    TTC21B 100.00 0 No comment
    TTR 100.00 0 No comment
    TUBA1A 100.00 0 No comment
    TUBA8 100.00 0 No comment
    TUBB2A 99.99 0 No comment
    TUBB2B 100.00 0 No comment
    TUBB3 98.24 0 No comment
    TUBB4A 99.85 0 No comment
    TUBG1 100.00 0 No comment
    TUSC3 100.00 0 No comment
    TWNK 100.00 0 No comment
    TYROBP 100.00 0 No comment
    UBE2A 99.62 0 No comment
    UBE3A 100.00 0 No comment
    UBR5 100.00 0 No comment
    UPB1 100.00 0 No comment
    VANGL1 100.00 0 No comment
    VARS2 100.00 0 No comment
    VDAC1 99.21 0 No comment
    VLDLR 96.53 0 No comment
    VPS13A 100.00 0 No comment
    VPS13B 99.25 0 No comment
    VPS53 100.00 0 No comment
    VRK1 100.00 0 No comment
    WDR45 100.00 0 No comment
    WDR62 100.00 0 No comment
    WFS1 100.00 0 No comment
    WWOX 100.00 0 No comment
    XK 100.00 0 No comment
    ZBTB18 100.00 0 No comment
    ZC4H2 100.00 0 No comment
    ZDHHC9 100.00 0 No comment
    ZEB2 100.00 0 No comment
    ZIC2 80.54 0 No comment
    ZNF335 100.00 0 No comment
  • 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