1. Analytes
  2. CHRNA7

CHRNA7

Analyte Export to PDF
Name:
cholinergic receptor nicotinic alpha 7 subunit
Symbol:
CHRNA7
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
acetylcholine receptor, nicotinic, alpha 7 (neuronal)
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Autism (57 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADARB2 100.00 1 NM_018702.4
    ADNP 100.00 1 NM_001282531.3
    ANK2 100.00 1 NM_001148.6
    ANKRD11 100.00 1 NM_013275.6
    ARID1B 98.00 1 NM_001374828.1
    BCKDK 100.00 1 NM_005881.4
    CACNA1C 100.00 1 NM_000719.7
    CHD3 100.00 1 NM_001005273.3
    CHD7 100.00 1 NM_017780.4
    CHD8 100.00 1 NM_001170629.2
    CHRNA7 0.00 1 NM_000746.6 / Exons 1-4 (5-10 not covered) / % unknown
    CNTNAP2 100.00 1 NM_014141.6
    CNTNAP4 100.00 1 NM_033401.5
    DHCR7 100.00 1 NM_001360.3
    DYRK1A 100.00 1 NM_001347721.2
    FMR1 100.00 1 NM_002024.6
    FOXP1 100.00 1 NM_032682.6
    FOXP2 100.00 1 NM_014491.4
    GRIN2A 100.00 1 NM_001134407.3
    GRIN2B 100.00 1 XM_011520629.2
    HDAC4 100.00 1 NM_006037.3
    KATNAL2 100.00 1 NM_031303.3
    KCNB1 100.00 1 NM_004975.4
    MECP2 100.00 1 NM_001110792.2 and NM_004992.3
    MEF2C 100.00 1 NM_002397.5
    MTOR 100.00 1 NM_004958.4
    NIPBL 100.00 1 NM_133433.4
    NLGN1 100.00 1 NM_014932.5
    NLGN3 100.00 1 NM_181303.2
    NLGN4X 100.00 1 NM_181332.3
    NLGN4Y 100.00 1 NM_014893.4
    NRXN1 100.00 1 NM_001330078.2
    NRXN2 100.00 1 NM_015080.4
    NRXN3 100.00 1 NM_001330195.2
    POGZ 100.00 1 NM_015100.4
    PPP2R5D 100.00 1 NM_006245.4
    PTCHD1 100.00 1 NM_173495.3
    PTEN 100.00 1 NM_000314.8
    RAI1 100.00 1 NM_030665.4
    RIMS1 100.00 1 NM_014989.5
    SCN1A 100.00 1 NM_001165963.3
    SCN2A 100.00 1 NM_001040142.2
    SCN8A 100.00 1 NM_001330260.2
    SHANK1 100.00 1 NM_016148.5
    SHANK2 100.00 1 NM_133266.5
    SHANK3 100.00 1 NM_001372044.1
    SMC1A 100.00 1 NM_006306.4
    SMC3 100.00 1 NM_005445.4
    SYNGAP1 100.00 1 NM_006772.3
    TBL1XR1 100.00 1 NM_024665.7
    TBR1 100.00 1 NM_006593.4
    TCF20 100.00 1 NM_005650.3
    TMLHE 100.00 1 NM_018196.4
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    UBE3A 100.00 1 NM_130839.5
    VPS13B 100.00 1 NM_017890.4
  • 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