1. Analytes
  2. KMT2D

KMT2D

Analyte Export to PDF
Name:
lysine methyltransferase 2D
Symbol:
KMT2D
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
ALR
CAGL114
MLL4
histone-lysine N-methyltransferase 2D
XREF(s):
Orphanet
Ensembl
HGNC
OMIM
Reactome
SwissProt
Genatlas
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACBD5 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ACTB 99.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ACTG1 99.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALG9 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALX1 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALX3 94.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    AMER1 99.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ANKRD11 97.83 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARCN1 95.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARHGAP29 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARHGAP31 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ASXL1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ATR 98.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ATRX 95.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GALT6 73.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GLCT 95.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GAT3 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B4GALT7 93.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BCOR 97.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BMP2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BMP4 98.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BUB1B 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    C2CD3 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CPLANE1 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CANT1 98.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CASK 95.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CC2D2A 98.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDC45 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDH1 96.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDKN1C 84.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHD1 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHD7 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHRNG 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHST14 97.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHSY1 93.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CKAP2L 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL11A1 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL11A2 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL2A1 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A1 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A2 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A3 94.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COLEC10 98.49 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COLEC11 99.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CTCF 98.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CTNND1 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DDX3X 94.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DDX59 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DHCR7 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DHODH 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DIS3L2 98.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLG1 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLL4 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLX4 98.90 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DNMT3B 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DOCK6 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DVL1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DVL3 98.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2H1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2LI1 98.39 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EBP 98.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EDN1 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EDNRA 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EFNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EFTUD2 97.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EIF2S3 97.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EIF4A3 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EOGT 89.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EPG5 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SELENOI 98.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ESCO2 97.31 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ESRP2 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EYA1 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FAM111A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FAM20C 95.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FANCL 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FBXO11 97.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGD1 95.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGFR1 98.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGFR2 99.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FLNA 98.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FLNB 98.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXC2 91.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXE1 85.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXP2 98.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FRAS1 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FREM2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FTO 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GATA3 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GATA6 89.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GDF1 74.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GJA1 99.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GLI3 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GMNN 96.00 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GNAI3 97.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GPC3 95.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GRHL3 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GRIP1 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GYPE 96.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HDAC8 97.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HOXA2 98.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HYLS1 99.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CILK1 98.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT140 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT172 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT52 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT80 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BPNT2 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    INTS1 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IRF6 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KANSL1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KAT6A 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KAT6B 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KCNJ2 99.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KDM1A 97.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KDM6A 94.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WASHC5 98.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIAA0586 93.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIFBP 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIF22 98.55 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIF7 95.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KMT2D 99.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    LMNA 98.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    LMX1B 99.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MAP3K7 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MAPRE2 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MASP1 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MBTPS2 97.08 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED12 97.56 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED13L 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED25 97.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MEIS2 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MEOX1 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    METTL23 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MID1 97.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MKS1 98.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MSX1 97.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NBN 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NEDD4L 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NEK1 98.70 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NIPBL 98.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NOTCH1 98.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NSDHL 98.23 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    OFD1 92.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PAX3 99.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PGAP2 99.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PGM1 97.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PHF8 97.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PHGDH 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIEZO2 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGA 95.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGL 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGN 97.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGV 99.40 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIK3R2 91.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLCB4 98.47 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLEKHA5 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLEKHA7 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1A 98.85 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1C 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1D 94.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POMT1 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POMT2 98.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PORCN 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PQBP1 97.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PSAT1 99.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PTCH1 97.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PTDSS1 99.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NECTIN1 99.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RAI1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RARB 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBM10 96.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBM8A 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBPJ 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ROR2 97.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPL11 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPL5 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS17 23.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS19 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS26 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS28 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RSPO2 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RYR1 97.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SALL4 99.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SATB2 99.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SCARF2 92.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SEC23A 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SF3B4 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SHH 96.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX3 97.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX5 95.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SKI 94.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SLC26A2 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD2 98.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD3 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD4 98.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMC1A 97.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMC3 98.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMG9 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMOC1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMS 92.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SNRPB 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SON 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SOX2 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SOX9 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SPECC1L 99.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STAMBP 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STIL 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STRA6 98.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STXBP1 99.15 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SUMO1 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX1 78.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX15 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX22 98.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TCOF1 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TCTN3 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TELO2 98.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TFAP2A 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TFAP2B 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGDS 98.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFB2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFB3 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFBR1 94.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFBR2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TMCO1 94.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MYMK 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TP63 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TRAPPC9 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TRIM37 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TSR2 93.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TTC21B 98.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TUBB 99.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TWIST2 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TXNL4A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    UBB 99.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    UQCC2 99.28 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    USP9X 95.07 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    VAX1 87.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WDR19 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2I2 98.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WDR35 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2I1 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WNT3 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WNT5A 98.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    XYLT1 89.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    YAP1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZBTB24 99.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZEB2 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZIC2 87.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZIC3 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZMPSTE24 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZSWIM6 88.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  • Congenital malformation (1721 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 0.00 0 ,
    AARS1 0.00 0 ,
    AASS 0.00 0 ,
    ABAT 0.00 0 ,
    ABCA12 0.00 0 ,
    ABCC6 0.00 0 ,
    ABCC9 0.00 0 ,
    ABCD1 0.00 0 ,
    ABCD3 0.00 0 ,
    ABCD4 0.00 0 ,
    ABHD5 0.00 0 ,
    ABL1 0.00 0 ,
    ACAD9 0.00 0 ,
    ACADVL 0.00 0 ,
    ACAN 0.00 0 ,
    ACE 0.00 0 ,
    ACO2 0.00 0 ,
    ACOX1 0.00 0 ,
    ACP5 0.00 0 ,
    ACSL4 0.00 0 ,
    ACTA1 0.00 0 ,
    ACTA2 0.00 0 ,
    ACTB 0.00 0 ,
    ACTC1 0.00 0 ,
    ACTG1 0.00 0 ,
    ACTG2 0.00 0 ,
    ACVR1 0.00 0 ,
    ACVR2B 0.00 0 ,
    ACY1 0.00 0 ,
    ADAMTS10 0.00 0 ,
    ADAMTS17 0.00 0 ,
    ADAMTS3 0.00 0 ,
    ADAMTSL2 0.00 0 ,
    ADAR 0.00 0 ,
    ADGRG1 0.00 0 ,
    ADGRG6 0.00 0 ,
    ADNP 0.00 0 ,
    ADSL 0.00 0 ,
    AFF3 0.00 0 ,
    AFF4 0.00 0 ,
    AGK 0.00 0 ,
    AGL 0.00 0 ,
    AGPS 0.00 0 ,
    AHCY 0.00 0 ,
    AHDC1 0.00 0 ,
    AHI1 0.00 0 ,
    AIFM1 0.00 0 ,
    AIMP1 0.00 0 ,
    AIPL1 0.00 0 ,
    AIRE 0.00 0 ,
    AKR1C2 0.00 0 ,
    AKT1 0.00 0 ,
    AKT2 0.00 0 ,
    AKT3 0.00 0 ,
    ALDH18A1 0.00 0 ,
    ALDH1A3 0.00 0 ,
    ALDH3A2 0.00 0 ,
    ALDH7A1 0.00 0 ,
    ALDOA 0.00 0 ,
    ALG1 0.00 0 ,
    ALG11 0.00 0 ,
    ALG12 0.00 0 ,
    ALG13 0.00 0 ,
    ALG2 0.00 0 ,
    ALG3 0.00 0 ,
    ALG6 0.00 0 ,
    ALG8 0.00 0 ,
    ALG9 0.00 0 ,
    ALMS1 0.00 0 ,
    ALOX12B 0.00 0 ,
    ALOXE3 0.00 0 ,
    ALPL 0.00 0 ,
    ALX1 0.00 0 ,
    ALX3 0.00 0 ,
    ALX4 0.00 0 ,
    AMACR 0.00 0 ,
    AMBRA1 0.00 0 ,
    AMER1 0.00 0 ,
    AMMECR1 0.00 0 ,
    AMPD2 0.00 0 ,
    AMT 0.00 0 ,
    ANAPC1 0.00 0 ,
    ANKH 0.00 0 ,
    ANKRD11 0.00 0 ,
    ANKRD26 0.00 0 ,
    ANKS6 0.00 0 ,
    ANOS1 0.00 0 ,
    ANTXR1 0.00 0 ,
    ANTXR2 0.00 0 ,
    AP1S2 0.00 0 ,
    AP3B2 0.00 0 ,
    AP4B1 0.00 0 ,
    AP4E1 0.00 0 ,
    AP4M1 0.00 0 ,
    AP4S1 0.00 0 ,
    AR 0.00 0 ,
    ARCN1 0.00 0 ,
    ARFGEF2 0.00 0 ,
    ARHGAP29 0.00 0 ,
    ARHGAP31 0.00 0 ,
    ARID1A 0.00 0 ,
    ARID1B 0.00 0 ,
    ARID2 0.00 0 ,
    ARL13B 0.00 0 ,
    ARL3 0.00 0 ,
    ARL6 0.00 0 ,
    ODAD2 0.00 0 ,
    ARMC9 0.00 0 ,
    ARSA 0.00 0 ,
    SLURP1 0.00 0 ,
    ARSL 0.00 0 ,
    ARVCF 0.00 0 ,
    ARX 0.00 0 ,
    ASAH1 0.00 0 ,
    ASCC1 0.00 0 ,
    ASNS 0.00 0 ,
    ASPA 0.00 0 ,
    ASPH 0.00 0 ,
    ASPM 0.00 0 ,
    ASS1 0.00 0 ,
    ASXL1 0.00 0 ,
    ASXL2 0.00 0 ,
    ASXL3 0.00 0 ,
    ATAD3A 0.00 0 ,
    ATIC 0.00 0 ,
    ATL1 0.00 0 ,
    ATM 0.00 0 ,
    ATP1A2 0.00 0 ,
    ATP6V0A2 0.00 0 ,
    ATP6V1B2 0.00 0 ,
    ATP7A 0.00 0 ,
    ATP8A2 0.00 0 ,
    ATRX 0.00 0 ,
    ATXN10 0.00 0 ,
    AVIL 0.00 0 ,
    B3GALNT2 0.00 0 ,
    B3GALT6 0.00 0 ,
    B3GAT3 0.00 0 ,
    B3GLCT 0.00 0 ,
    B4GALT1 0.00 0 ,
    B4GALT7 0.00 0 ,
    B4GAT1 0.00 0 ,
    B9D1 0.00 0 ,
    B9D2 0.00 0 ,
    BANF1 0.00 0 ,
    BBIP1 0.00 0 ,
    BBS1 0.00 0 ,
    BBS10 0.00 0 ,
    BBS12 0.00 0 ,
    BBS2 0.00 0 ,
    BBS4 0.00 0 ,
    BBS5 0.00 0 ,
    BBS7 0.00 0 ,
    BBS9 0.00 0 ,
    BCAP31 0.00 0 ,
    BCL11A 0.00 0 ,
    BCL9L 0.00 0 ,
    BCOR 0.00 0 ,
    BCS1L 0.00 0 ,
    BDNF 0.00 0 ,
    BFSP2 0.00 0 ,
    BGN 0.00 0 ,
    BHLHA9 0.00 0 ,
    BICC1 0.00 0 ,
    BICD2 0.00 0 ,
    BIN1 0.00 0 ,
    BLM 0.00 0 ,
    BLOC1S6 0.00 0 ,
    BMP1 0.00 0 ,
    BMP2 0.00 0 ,
    BMP4 0.00 0 ,
    BMPER 0.00 0 ,
    BMPR1B 0.00 0 ,
    BNC2 0.00 0 ,
    BOLA3 0.00 0 ,
    BPTF 0.00 0 ,
    BRAF 0.00 0 ,
    BRAT1 0.00 0 ,
    BRCA2 0.00 0 ,
    BRIP1 0.00 0 ,
    BRPF1 0.00 0 ,
    BSND 0.00 0 ,
    BTD 0.00 0 ,
    BUB1 0.00 0 ,
    BUB1B 0.00 0 ,
    BUB3 0.00 0 ,
    C12ORF57 0.00 0 ,
    MTRFR 0.00 0 ,
    C1QBP 0.00 0 ,
    MFRP 0.00 0 ,
    C2CD3 0.00 0 ,
    C4BPA 0.00 0 ,
    C4BPB 0.00 0 ,
    CFAP418 0.00 0 ,
    CA2 0.00 0 ,
    CA5A 0.00 0 ,
    CA8 0.00 0 ,
    CACNA1A 0.00 0 ,
    CACNA1C 0.00 0 ,
    CACNA1D 0.00 0 ,
    CACNA1E 0.00 0 ,
    CACNA1G 0.00 0 ,
    CAMK2A 0.00 0 ,
    CAMK2B 0.00 0 ,
    CAMTA1 0.00 0 ,
    CANT1 0.00 0 ,
    CARS2 0.00 0 ,
    CASK 0.00 0 ,
    CASR 0.00 0 ,
    CBL 0.00 0 ,
    CC2D2A 0.00 0 ,
    CCBE1 0.00 0 ,
    CCDC103 0.00 0 ,
    ODAD1 0.00 0 ,
    ODAD3 0.00 0 ,
    CCDC22 0.00 0 ,
    CCDC28B 0.00 0 ,
    CCDC39 0.00 0 ,
    CCDC40 0.00 0 ,
    CCDC78 0.00 0 ,
    CCDC8 0.00 0 ,
    CCDC88C 0.00 0 ,
    CCM2 0.00 0 ,
    CCND2 0.00 0 ,
    CCNQ 0.00 0 ,
    CD151 0.00 0 ,
    CD55 0.00 0 ,
    CD96 0.00 0 ,
    CDAN1 0.00 0 ,
    CDC45 0.00 0 ,
    CDC6 0.00 0 ,
    CDC73 0.00 0 ,
    CDH1 0.00 0 ,
    CDH11 0.00 0 ,
    CDH3 0.00 0 ,
    CDK13 0.00 0 ,
    CDK5RAP2 0.00 0 ,
    CDK8 0.00 0 ,
    CDKL5 0.00 0 ,
    CDKN1C 0.00 0 ,
    CDON 0.00 0 ,
    CDT1 0.00 0 ,
    CELSR1 0.00 0 ,
    CENPF 0.00 0 ,
    CENPJ 0.00 0 ,
    CEP104 0.00 0 ,
    CEP120 0.00 0 ,
    CEP135 0.00 0 ,
    CEP152 0.00 0 ,
    CEP164 0.00 0 ,
    CEP290 0.00 0 ,
    CEP41 0.00 0 ,
    CEP55 0.00 0 ,
    CEP57 0.00 0 ,
    CEP63 0.00 0 ,
    CEP83 0.00 0 ,
    CERS3 0.00 0 ,
    CERT1 0.00 0 ,
    CFAP298 0.00 0 ,
    CFAP300 0.00 0 ,
    CFAP410 0.00 0 ,
    CFAP53 0.00 0 ,
    CFC1 0.00 0 ,
    CFHR2 0.00 0 ,
    CFL2 0.00 0 ,
    CFTR 0.00 0 ,
    CHAMP1 0.00 0 ,
    CHAT 0.00 0 ,
    CHD3 0.00 0 ,
    CHD4 0.00 0 ,
    CHD7 0.00 0 ,
    CHD8 0.00 0 ,
    CHKB 0.00 0 ,
    CHMP1A 0.00 0 ,
    CHN1 0.00 0 ,
    CHRNA1 0.00 0 ,
    CHRNA3 0.00 0 ,
    CHRNB1 0.00 0 ,
    CHRNB2 0.00 0 ,
    CHRND 0.00 0 ,
    CHRNE 0.00 0 ,
    CHRNG 0.00 0 ,
    CHST11 0.00 0 ,
    CHST14 0.00 0 ,
    CHST3 0.00 0 ,
    CHSY1 0.00 0 ,
    CHUK 0.00 0 ,
    CILK1 0.00 0 ,
    CIT 0.00 0 ,
    CKAP2L 0.00 0 ,
    CLCN7 0.00 0 ,
    CLCNKB 0.00 0 ,
    CLDN10 0.00 0 ,
    CLMP 0.00 0 ,
    CLP1 0.00 0 ,
    CLPB 0.00 0 ,
    CLPP 0.00 0 ,
    CLTC 0.00 0 ,
    CNKSR2 0.00 0 ,
    CNOT1 0.00 0 ,
    CNOT3 0.00 0 ,
    CNTN1 0.00 0 ,
    CNTNAP1 0.00 0 ,
    CNTNAP2 0.00 0 ,
    COASY 0.00 0 ,
    COG1 0.00 0 ,
    COG4 0.00 0 ,
    COG5 0.00 0 ,
    COG6 0.00 0 ,
    COG7 0.00 0 ,
    COG8 0.00 0 ,
    COL10A1 0.00 0 ,
    COL11A1 0.00 0 ,
    COL11A2 0.00 0 ,
    COL12A1 0.00 0 ,
    COL13A1 0.00 0 ,
    COL18A1 0.00 0 ,
    COL1A1 0.00 0 ,
    COL1A2 0.00 0 ,
    COL25A1 0.00 0 ,
    COL2A1 0.00 0 ,
    COL3A1 0.00 0 ,
    COL4A1 0.00 0 ,
    COL4A2 0.00 0 ,
    COL5A1 0.00 0 ,
    COL5A2 0.00 0 ,
    COL6A1 0.00 0 ,
    COL6A2 0.00 0 ,
    COL6A3 0.00 0 ,
    COL7A1 0.00 0 ,
    COL9A1 0.00 0 ,
    COL9A2 0.00 0 ,
    COLEC10 0.00 0 ,
    COLEC11 0.00 0 ,
    COLQ 0.00 0 ,
    COMT 0.00 0 ,
    COQ4 0.00 0 ,
    COQ7 0.00 0 ,
    COQ9 0.00 0 ,
    COX7B 0.00 0 ,
    CPAMD8 0.00 0 ,
    CPLANE1 0.00 0 ,
    CPT2 0.00 0 ,
    CRADD 0.00 0 ,
    CRB1 0.00 0 ,
    CRB2 0.00 0 ,
    CREB3L1 0.00 0 ,
    CREBBP 0.00 0 ,
    CRELD1 0.00 0 ,
    CRH 0.00 0 ,
    CRIPT 0.00 0 ,
    CRLF1 0.00 0 ,
    CRPPA 0.00 0 ,
    CRTAP 0.00 0 ,
    CRX 0.00 0 ,
    CRYAA 0.00 0 ,
    CRYBA1 0.00 0 ,
    CRYBA4 0.00 0 ,
    CRYBB1 0.00 0 ,
    CRYBB2 0.00 0 ,
    CRYBB3 0.00 0 ,
    CRYGC 0.00 0 ,
    CRYGD 0.00 0 ,
    CSF1R 0.00 0 ,
    CSNK2A1 0.00 0 ,
    CSPP1 0.00 0 ,
    CSTA 0.00 0 ,
    CTC1 0.00 0 ,
    CTCF 0.00 0 ,
    CTDP1 0.00 0 ,
    CTNNB1 0.00 0 ,
    CTNND1 0.00 0 ,
    CTNS 0.00 0 ,
    CTSA 0.00 0 ,
    CTSD 0.00 0 ,
    CTSK 0.00 0 ,
    CTU2 0.00 0 ,
    CUL4B 0.00 0 ,
    CUL7 0.00 0 ,
    CUX2 0.00 0 ,
    CWC27 0.00 0 ,
    CXCR4 0.00 0 ,
    CYB5R3 0.00 0 ,
    CYP11A1 0.00 0 ,
    CYP11B1 0.00 0 ,
    CYP17A1 0.00 0 ,
    CYP19A1 0.00 0 ,
    CYP1B1 0.00 0 ,
    CYP21A2 0.00 0 ,
    CYP26B1 0.00 0 ,
    CYP2U1 0.00 0 ,
    CYP4F22 0.00 0 ,
    DACH1 0.00 0 ,
    DAG1 0.00 0 ,
    DARS1 0.00 0 ,
    DCC 0.00 0 ,
    DCDC2 0.00 0 ,
    DCHS1 0.00 0 ,
    DCX 0.00 0 ,
    DDHD2 0.00 0 ,
    DDR2 0.00 0 ,
    DDX11 0.00 0 ,
    DDX3X 0.00 0 ,
    DDX59 0.00 0 ,
    DDX6 0.00 0 ,
    DENND5A 0.00 0 ,
    DHCR24 0.00 0 ,
    DHCR7 0.00 0 ,
    DHDDS 0.00 0 ,
    DHFR 0.00 0 ,
    DHH 0.00 0 ,
    DHODH 0.00 0 ,
    DHTKD1 0.00 0 ,
    DHX30 0.00 0 ,
    DIAPH1 0.00 0 ,
    DIS3L2 0.00 0 ,
    DISP1 0.00 0 ,
    DKC1 0.00 0 ,
    DLG4 0.00 0 ,
    DLL3 0.00 0 ,
    DLL4 0.00 0 ,
    DLX5 0.00 0 ,
    DMD 0.00 0 ,
    DMPK 0.00 0 ,
    DNAAF1 0.00 0 ,
    DNAAF2 0.00 0 ,
    DNAAF3 0.00 0 ,
    DNAAF4 0.00 0 ,
    DNAAF5 0.00 0 ,
    DNAH11 0.00 0 ,
    DNAH5 0.00 0 ,
    DNAH9 0.00 0 ,
    DNAI1 0.00 0 ,
    DNAI2 0.00 0 ,
    DNAJB11 0.00 0 ,
    DNAJC12 0.00 0 ,
    DNAJC19 0.00 0 ,
    DNM1 0.00 0 ,
    DNM1L 0.00 0 ,
    DNM2 0.00 0 ,
    DNMT3A 0.00 0 ,
    DNMT3B 0.00 0 ,
    DOCK6 0.00 0 ,
    DOCK7 0.00 0 ,
    DOK7 0.00 0 ,
    DOLK 0.00 0 ,
    DONSON 0.00 0 ,
    DPAGT1 0.00 0 ,
    DPF2 0.00 0 ,
    DPH1 0.00 0 ,
    DPM1 0.00 0 ,
    DPM2 0.00 0 ,
    DPM3 0.00 0 ,
    DPYD 0.00 0 ,
    DRC1 0.00 0 ,
    DSG1 0.00 0 ,
    DSP 0.00 0 ,
    DSTYK 0.00 0 ,
    DUSP6 0.00 0 ,
    DVL1 0.00 0 ,
    DVL3 0.00 0 ,
    DYM 0.00 0 ,
    DYNC1H1 0.00 0 ,
    DYNC2H1 0.00 0 ,
    DYNC2LI1 0.00 0 ,
    DYRK1A 0.00 0 ,
    DZIP1L 0.00 0 ,
    EARS2 0.00 0 ,
    EBF3 0.00 0 ,
    GLB1 0.00 0 ,
    ECEL1 0.00 0 ,
    EDA 0.00 0 ,
    EDN1 0.00 0 ,
    EDNRA 0.00 0 ,
    EDNRB 0.00 0 ,
    EED 0.00 0 ,
    EEF1A2 0.00 0 ,
    EFL1 0.00 0 ,
    EFNB1 0.00 0 ,
    EFTUD2 0.00 0 ,
    EGR2 0.00 0 ,
    EHBP1L1 0.00 0 ,
    EHHADH 0.00 0 ,
    EHMT1 0.00 0 ,
    EIF2AK3 0.00 0 ,
    EIF2B2 0.00 0 ,
    EIF2B3 0.00 0 ,
    EIF2S3 0.00 0 ,
    EIF4A3 0.00 0 ,
    EIF5A 0.00 0 ,
    ELAC2 0.00 0 ,
    ELMO2 0.00 0 ,
    ELN 0.00 0 ,
    ELOVL4 0.00 0 ,
    EMC1 0.00 0 ,
    EMD 0.00 0 ,
    EMG1 0.00 0 ,
    EML1 0.00 0 ,
    EMX2 0.00 0 ,
    ENPP1 0.00 0 ,
    EOGT 0.00 0 ,
    EP300 0.00 0 ,
    EPG5 0.00 0 ,
    EPHB4 0.00 0 ,
    EPHX1 0.00 0 ,
    ERBB3 0.00 0 ,
    ERCC1 0.00 0 ,
    ERCC2 0.00 0 ,
    ERCC3 0.00 0 ,
    ERCC4 0.00 0 ,
    ERCC5 0.00 0 ,
    ERCC6 0.00 0 ,
    ERCC8 0.00 0 ,
    ERF 0.00 0 ,
    ERGIC1 0.00 0 ,
    ERLIN2 0.00 0 ,
    ESCO2 0.00 0 ,
    ESRRG 0.00 0 ,
    ETFA 0.00 0 ,
    ETFB 0.00 0 ,
    ETFDH 0.00 0 ,
    EVC 0.00 0 ,
    EVC2 0.00 0 ,
    EXOC3L2 0.00 0 ,
    EXOSC3 0.00 0 ,
    EXPH5 0.00 0 ,
    EXT1 0.00 0 ,
    EXT2 0.00 0 ,
    EXTL3 0.00 0 ,
    EYA1 0.00 0 ,
    EZH2 0.00 0 ,
    FA2H 0.00 0 ,
    FANCA 0.00 0 ,
    FAM111A 0.00 0 ,
    HYCC1 0.00 0 ,
    FAM20A 0.00 0 ,
    FAM20C 0.00 0 ,
    FANCB 0.00 0 ,
    FANCC 0.00 0 ,
    FANCD2 0.00 0 ,
    FANCE 0.00 0 ,
    FANCF 0.00 0 ,
    FANCG 0.00 0 ,
    FANCI 0.00 0 ,
    FANCL 0.00 0 ,
    FANCM 0.00 0 ,
    FAR1 0.00 0 ,
    FAT4 0.00 0 ,
    FBLN5 0.00 0 ,
    FBN1 0.00 0 ,
    FBN2 0.00 0 ,
    FBXL4 0.00 0 ,
    FEZF1 0.00 0 ,
    FGD1 0.00 0 ,
    FGF10 0.00 0 ,
    FGF17 0.00 0 ,
    FGF3 0.00 0 ,
    FGF8 0.00 0 ,
    FGF9 0.00 0 ,
    FGFR1 0.00 0 ,
    FGFR2 0.00 0 ,
    FGFR3 0.00 0 ,
    FGG 0.00 0 ,
    FH 0.00 0 ,
    FIG4 0.00 0 ,
    FKBP10 0.00 0 ,
    FKBP14 0.00 0 ,
    FKBP8 0.00 0 ,
    FKRP 0.00 0 ,
    FKTN 0.00 0 ,
    FLNA 0.00 0 ,
    FLNB 0.00 0 ,
    FLNC 0.00 0 ,
    FLRT3 0.00 0 ,
    FLT4 0.00 0 ,
    FLVCR2 0.00 0 ,
    FMN2 0.00 0 ,
    FN1 0.00 0 ,
    FOLR1 0.00 0 ,
    FOXC1 0.00 0 ,
    FOXC2 0.00 0 ,
    FOXE1 0.00 0 ,
    FOXE3 0.00 0 ,
    FOXF1 0.00 0 ,
    FOXG1 0.00 0 ,
    FOXL2 0.00 0 ,
    FOXP2 0.00 0 ,
    FOXP3 0.00 0 ,
    FOXP4 0.00 0 ,
    FOXRED1 0.00 0 ,
    FRAS1 0.00 0 ,
    FREM1 0.00 0 ,
    FREM2 0.00 0 ,
    FRMD4A 0.00 0 ,
    FRMPD4 0.00 0 ,
    FRRS1L 0.00 0 ,
    FTL 0.00 0 ,
    FTO 0.00 0 ,
    FUCA1 0.00 0 ,
    FUT8 0.00 0 ,
    FUZ 0.00 0 ,
    FYCO1 0.00 0 ,
    FZD2 0.00 0 ,
    FZD5 0.00 0 ,
    G6PC3 0.00 0 ,
    GAA 0.00 0 ,
    GABRA1 0.00 0 ,
    GABRB2 0.00 0 ,
    GABRG2 0.00 0 ,
    GALC 0.00 0 ,
    GALE 0.00 0 ,
    GALK1 0.00 0 ,
    GALNS 0.00 0 ,
    GALNT2 0.00 0 ,
    GANAB 0.00 0 ,
    GATA1 0.00 0 ,
    GATA2 0.00 0 ,
    GATA3 0.00 0 ,
    GATA4 0.00 0 ,
    GATA6 0.00 0 ,
    GBA1 0.00 0 ,
    GBA2 0.00 0 ,
    GBE1 0.00 0 ,
    GCDH 0.00 0 ,
    GCSH 0.00 0 ,
    GDF1 0.00 0 ,
    GDF3 0.00 0 ,
    GDF5 0.00 0 ,
    GDF6 0.00 0 ,
    GFAP 0.00 0 ,
    GFM1 0.00 0 ,
    GFPT1 0.00 0 ,
    GFRA1 0.00 0 ,
    GJA1 0.00 0 ,
    GJA3 0.00 0 ,
    GJA8 0.00 0 ,
    GJB2 0.00 0 ,
    GJC2 0.00 0 ,
    GLA 0.00 0 ,
    GLDC 0.00 0 ,
    GLDN 0.00 0 ,
    GLE1 0.00 0 ,
    GLI1 0.00 0 ,
    GLI2 0.00 0 ,
    GLI3 0.00 0 ,
    GLIS2 0.00 0 ,
    GLIS3 0.00 0 ,
    GLUL 0.00 0 ,
    GM2A 0.00 0 ,
    GMNN 0.00 0 ,
    GMPPB 0.00 0 ,
    GNA11 0.00 0 ,
    GNA14 0.00 0 ,
    GNAI1 0.00 0 ,
    GNAI3 0.00 0 ,
    GNAO1 0.00 0 ,
    GNAQ 0.00 0 ,
    GNAS 0.00 0 ,
    GNB1 0.00 0 ,
    GNB5 0.00 0 ,
    GNPAT 0.00 0 ,
    GNPTAB 0.00 0 ,
    GNPTG 0.00 0 ,
    GNS 0.00 0 ,
    GORAB 0.00 0 ,
    GP1BB 0.00 0 ,
    GPAA1 0.00 0 ,
    GPC3 0.00 0 ,
    GPC6 0.00 0 ,
    GPI 0.00 0 ,
    GPKOW 0.00 0 ,
    GPSM2 0.00 0 ,
    GPX4 0.00 0 ,
    GREB1L 0.00 0 ,
    GRHL2 0.00 0 ,
    GRHL3 0.00 0 ,
    GRIN1 0.00 0 ,
    GRIN2B 0.00 0 ,
    GRIN2D 0.00 0 ,
    GRIP1 0.00 0 ,
    GRM1 0.00 0 ,
    GSC 0.00 0 ,
    GSPT2 0.00 0 ,
    GTF2E2 0.00 0 ,
    GTF2H5 0.00 0 ,
    GTPBP3 0.00 0 ,
    GUCY2C 0.00 0 ,
    GUCY2D 0.00 0 ,
    GUSB 0.00 0 ,
    GZF1 0.00 0 ,
    H1-4 0.00 0 ,
    H4C3 0.00 0 ,
    HAAO 0.00 0 ,
    HADHA 0.00 0 ,
    HADHB 0.00 0 ,
    HBA1 0.00 0 ,
    HBA2 0.00 0 ,
    HCCS 0.00 0 ,
    HCFC1 0.00 0 ,
    HDAC8 0.00 0 ,
    HES7 0.00 0 ,
    HESX1 0.00 0 ,
    HGSNAT 0.00 0 ,
    HIBCH 0.00 0 ,
    HIRA 0.00 0 ,
    HIVEP2 0.00 0 ,
    HLX 0.00 0 ,
    HMGA2 0.00 0 ,
    HMX1 0.00 0 ,
    HNF1B 0.00 0 ,
    HNF4A 0.00 0 ,
    HNRNPH2 0.00 0 ,
    HNRNPK 0.00 0 ,
    HOXA1 0.00 0 ,
    HOXA11 0.00 0 ,
    HOXA13 0.00 0 ,
    HOXA2 0.00 0 ,
    HOXB1 0.00 0 ,
    HOXD13 0.00 0 ,
    HPD 0.00 0 ,
    HPGD 0.00 0 ,
    HPSE2 0.00 0 ,
    HR 0.00 0 ,
    HRAS 0.00 0 ,
    HS6ST1 0.00 0 ,
    HSD17B3 0.00 0 ,
    HSD17B4 0.00 0 ,
    HSF4 0.00 0 ,
    HSPD1 0.00 0 ,
    HSPG2 0.00 0 ,
    HUWE1 0.00 0 ,
    HYAL1 0.00 0 ,
    HYLS1 0.00 0 ,
    IARS1 0.00 0 ,
    IBA57 0.00 0 ,
    IDH1 0.00 0 ,
    IDS 0.00 0 ,
    IDUA 0.00 0 ,
    IER3IP1 0.00 0 ,
    IFIH1 0.00 0 ,
    IFITM5 0.00 0 ,
    IFT122 0.00 0 ,
    IFT140 0.00 0 ,
    IFT172 0.00 0 ,
    IFT27 0.00 0 ,
    IFT43 0.00 0 ,
    IFT52 0.00 0 ,
    IFT80 0.00 0 ,
    IFT81 0.00 0 ,
    IFT88 0.00 0 ,
    IGBP1 0.00 0 ,
    IGF1 0.00 0 ,
    IGF1R 0.00 0 ,
    IGF2 0.00 0 ,
    IGFBP7 0.00 0 ,
    IGHMBP2 0.00 0 ,
    IHH 0.00 0 ,
    IKBKG 0.00 0 ,
    IL11RA 0.00 0 ,
    IL17RD 0.00 0 ,
    IL1RAPL1 0.00 0 ,
    BPNT2 0.00 0 ,
    IMPDH1 0.00 0 ,
    INCENP 0.00 0 ,
    INPP5B 0.00 0 ,
    INPP5E 0.00 0 ,
    INPP5K 0.00 0 ,
    INPPL1 0.00 0 ,
    INSR 0.00 0 ,
    INTU 0.00 0 ,
    INVS 0.00 0 ,
    IQCB1 0.00 0 ,
    IRF6 0.00 0 ,
    IRX1 0.00 0 ,
    IRX5 0.00 0 ,
    ITCH 0.00 0 ,
    ITGA3 0.00 0 ,
    ITGA6 0.00 0 ,
    ITGA8 0.00 0 ,
    ITGB4 0.00 0 ,
    ITPR1 0.00 0 ,
    JAG1 0.00 0 ,
    JAM3 0.00 0 ,
    JUP 0.00 0 ,
    KANSL1 0.00 0 ,
    KAT6A 0.00 0 ,
    KAT6B 0.00 0 ,
    KATNB1 0.00 0 ,
    KCNA1 0.00 0 ,
    KCNC3 0.00 0 ,
    KCNH1 0.00 0 ,
    KCNJ1 0.00 0 ,
    KCNJ13 0.00 0 ,
    KCNJ2 0.00 0 ,
    KCNJ6 0.00 0 ,
    KCNJ8 0.00 0 ,
    KCNK9 0.00 0 ,
    KCNQ2 0.00 0 ,
    KCNQ5 0.00 0 ,
    KCNT1 0.00 0 ,
    KCTD1 0.00 0 ,
    KCTD7 0.00 0 ,
    KDM1A 0.00 0 ,
    KDM5C 0.00 0 ,
    KDM6A 0.00 0 ,
    KATNIP 0.00 0 ,
    KIAA0586 0.00 0 ,
    KIAA0753 0.00 0 ,
    BLTP1 0.00 0 ,
    KIDINS220 0.00 0 ,
    KIF11 0.00 0 ,
    KIF14 0.00 0 ,
    KIF1A 0.00 0 ,
    KIF22 0.00 0 ,
    KIF26B 0.00 0 ,
    KIF2A 0.00 0 ,
    KIF5C 0.00 0 ,
    KIF7 0.00 0 ,
    KIFBP 0.00 0 ,
    KISS1R 0.00 0 ,
    KLF1 0.00 0 ,
    KLHL40 0.00 0 ,
    KLHL41 0.00 0 ,
    KLHL7 0.00 0 ,
    KMT2A 0.00 0 ,
    KMT2B 0.00 0 ,
    KMT2C 0.00 0 ,
    KMT2D 0.00 0 ,
    KNL1 0.00 0 ,
    KPTN 0.00 0 ,
    KRAS 0.00 0 ,
    KRIT1 0.00 0 ,
    KRT74 0.00 0 ,
    KYNU 0.00 0 ,
    L1CAM 0.00 0 ,
    L2HGDH 0.00 0 ,
    LAGE3 0.00 0 ,
    LAMA1 0.00 0 ,
    LAMA2 0.00 0 ,
    LAMA5 0.00 0 ,
    LAMB1 0.00 0 ,
    LAMC3 0.00 0 ,
    LARGE1 0.00 0 ,
    LARP7 0.00 0 ,
    LARS2 0.00 0 ,
    LBR 0.00 0 ,
    LCA5 0.00 0 ,
    LEMD3 0.00 0 ,
    LFNG 0.00 0 ,
    LGI4 0.00 0 ,
    LHB 0.00 0 ,
    LHX3 0.00 0 ,
    LHX4 0.00 0 ,
    LIAS 0.00 0 ,
    LIFR 0.00 0 ,
    LIG4 0.00 0 ,
    LINS1 0.00 0 ,
    LIPA 0.00 0 ,
    LIPN 0.00 0 ,
    LIPT1 0.00 0 ,
    LIPT2 0.00 0 ,
    LMBR1 0.00 0 ,
    LMBRD1 0.00 0 ,
    LMNA 0.00 0 ,
    LMNB1 0.00 0 ,
    LMNB2 0.00 0 ,
    LMOD3 0.00 0 ,
    LMX1B 0.00 0 ,
    LONP1 0.00 0 ,
    LRAT 0.00 0 ,
    LRBA 0.00 0 ,
    LRIG2 0.00 0 ,
    LRIT3 0.00 0 ,
    LRP2 0.00 0 ,
    CORIN 0.00 0 ,
    LRP5 0.00 0 ,
    LRRC56 0.00 0 ,
    DNAAF11 0.00 0 ,
    LTBP3 0.00 0 ,
    LTBP4 0.00 0 ,
    LYST 0.00 0 ,
    LZTFL1 0.00 0 ,
    LZTR1 0.00 0 ,
    MAB21L2 0.00 0 ,
    MACF1 0.00 0 ,
    MAF 0.00 0 ,
    MAFB 0.00 0 ,
    MAGEL2 0.00 0 ,
    MAMLD1 0.00 0 ,
    MAN1B1 0.00 0 ,
    MANBA 0.00 0 ,
    MAP2K1 0.00 0 ,
    MAP2K2 0.00 0 ,
    MAP3K1 0.00 0 ,
    MAP3K20 0.00 0 ,
    MAP3K7 0.00 0 ,
    MAPKBP1 0.00 0 ,
    MAPRE2 0.00 0 ,
    MASP1 0.00 0 ,
    MAT1A 0.00 0 ,
    MATN3 0.00 0 ,
    MBOAT7 0.00 0 ,
    MBTPS2 0.00 0 ,
    MCOLN1 0.00 0 ,
    MCPH1 0.00 0 ,
    MDH2 0.00 0 ,
    MECOM 0.00 0 ,
    MECP2 0.00 0 ,
    MECR 0.00 0 ,
    MED12 0.00 0 ,
    MED13L 0.00 0 ,
    MED17 0.00 0 ,
    MED28 0.00 0 ,
    MEF2C 0.00 0 ,
    MEGF10 0.00 0 ,
    MEGF8 0.00 0 ,
    MEIS2 0.00 0 ,
    MEOX1 0.00 0 ,
    MESD 0.00 0 ,
    MESP2 0.00 0 ,
    MFSD2A 0.00 0 ,
    MGP 0.00 0 ,
    MID1 0.00 0 ,
    MIPOL1 0.00 0 ,
    MITF 0.00 0 ,
    MKKS 0.00 0 ,
    MKS1 0.00 0 ,
    MLC1 0.00 0 ,
    MLH1 0.00 0 ,
    MLYCD 0.00 0 ,
    MMACHC 0.00 0 ,
    MMADHC 0.00 0 ,
    MMP13 0.00 0 ,
    MMP15 0.00 0 ,
    MMP21 0.00 0 ,
    MN1 0.00 0 ,
    MNX1 0.00 0 ,
    MOCOS 0.00 0 ,
    MOCS1 0.00 0 ,
    MOCS2 0.00 0 ,
    MOGS 0.00 0 ,
    MPDU1 0.00 0 ,
    MPDZ 0.00 0 ,
    MPL 0.00 0 ,
    MPLKIP 0.00 0 ,
    MPZ 0.00 0 ,
    MRAS 0.00 0 ,
    MRPS16 0.00 0 ,
    MRPS22 0.00 0 ,
    MRPS34 0.00 0 ,
    MSH2 0.00 0 ,
    MSH6 0.00 0 ,
    MSL3 0.00 0 ,
    MSMO1 0.00 0 ,
    MSTO1 0.00 0 ,
    MSX1 0.00 0 ,
    MSX2 0.00 0 ,
    MTM1 0.00 0 ,
    MTO1 0.00 0 ,
    MTOR 0.00 0 ,
    MUSK 0.00 0 ,
    MVK 0.00 0 ,
    MYBPC1 0.00 0 ,
    MYCN 0.00 0 ,
    MYH10 0.00 0 ,
    MYH11 0.00 0 ,
    MYH2 0.00 0 ,
    MYH3 0.00 0 ,
    MYH6 0.00 0 ,
    MYH7 0.00 0 ,
    MYH8 0.00 0 ,
    MYH9 0.00 0 ,
    MYL1 0.00 0 ,
    MYL9 0.00 0 ,
    MYLK 0.00 0 ,
    MYMK 0.00 0 ,
    MYO18B 0.00 0 ,
    MYO9A 0.00 0 ,
    MYOCD 0.00 0 ,
    MYOD1 0.00 0 ,
    MYPN 0.00 0 ,
    MYRF 0.00 0 ,
    MYT1 0.00 0 ,
    NAA10 0.00 0 ,
    NAA15 0.00 0 ,
    NACC1 0.00 0 ,
    NADSYN1 0.00 0 ,
    NAGA 0.00 0 ,
    NAGLU 0.00 0 ,
    NALCN 0.00 0 ,
    NANS 0.00 0 ,
    NAXE 0.00 0 ,
    NBAS 0.00 0 ,
    NBN 0.00 0 ,
    NDE1 0.00 0 ,
    NDP 0.00 0 ,
    NDUFA10 0.00 0 ,
    NDUFAF2 0.00 0 ,
    NDUFAF5 0.00 0 ,
    NDUFB11 0.00 0 ,
    NEB 0.00 0 ,
    NECTIN1 0.00 0 ,
    NECTIN4 0.00 0 ,
    NEDD4L 0.00 0 ,
    NEK1 0.00 0 ,
    NEK9 0.00 0 ,
    NEU1 0.00 0 ,
    NEXMIF 0.00 0 ,
    NF1 0.00 0 ,
    NFIX 0.00 0 ,
    NHEJ1 0.00 0 ,
    NHP2 0.00 0 ,
    NHS 0.00 0 ,
    NIN 0.00 0 ,
    NIPAL4 0.00 0 ,
    NIPBL 0.00 0 ,
    NKX2-5 0.00 0 ,
    NKX3-2 0.00 0 ,
    NKX6-2 0.00 0 ,
    NLRC4 0.00 0 ,
    RMRP 0.00 0 ,
    NMNAT1 0.00 0 ,
    NMNAT2 0.00 0 ,
    NODAL 0.00 0 ,
    NOG 0.00 0 ,
    NONO 0.00 0 ,
    NOTCH1 0.00 0 ,
    NOTCH2 0.00 0 ,
    NOVA2 0.00 0 ,
    NPC1 0.00 0 ,
    NPC2 0.00 0 ,
    NPHP1 0.00 0 ,
    NPHP3 0.00 0 ,
    NPHP4 0.00 0 ,
    NPHS1 0.00 0 ,
    NPRL2 0.00 0 ,
    NR0B1 0.00 0 ,
    NR2F2 0.00 0 ,
    NR5A1 0.00 0 ,
    NRAS 0.00 0 ,
    NRXN2 0.00 0 ,
    NSD1 0.00 0 ,
    NSDHL 0.00 0 ,
    NSMF 0.00 0 ,
    NSUN2 0.00 0 ,
    NT5C2 0.00 0 ,
    NTRK2 0.00 0 ,
    NUAK2 0.00 0 ,
    NUBPL 0.00 0 ,
    NUP107 0.00 0 ,
    NUP62 0.00 0 ,
    NUP88 0.00 0 ,
    NUS1 0.00 0 ,
    NXN 0.00 0 ,
    OBSL1 0.00 0 ,
    OCLN 0.00 0 ,
    OCRL 0.00 0 ,
    ODC1 0.00 0 ,
    OFD1 0.00 0 ,
    OPHN1 0.00 0 ,
    SLC25A15 0.00 0 ,
    ORC4 0.00 0 ,
    ORC6 0.00 0 ,
    OSGEP 0.00 0 ,
    OSTM1 0.00 0 ,
    OTUD5 0.00 0 ,
    OTUD6B 0.00 0 ,
    OTX2 0.00 0 ,
    P3H1 0.00 0 ,
    P4HB 0.00 0 ,
    PACS1 0.00 0 ,
    PAFAH1B1 0.00 0 ,
    PAICS 0.00 0 ,
    PAK3 0.00 0 ,
    PALB2 0.00 0 ,
    PAPSS2 0.00 0 ,
    PARN 0.00 0 ,
    PAX2 0.00 0 ,
    PAX3 0.00 0 ,
    PAX6 0.00 0 ,
    PAX7 0.00 0 ,
    PAX8 0.00 0 ,
    PBX1 0.00 0 ,
    PCGF2 0.00 0 ,
    PCNT 0.00 0 ,
    PCYT1A 0.00 0 ,
    PDCD10 0.00 0 ,
    PDE10A 0.00 0 ,
    PDE4D 0.00 0 ,
    PDE6D 0.00 0 ,
    PDE6H 0.00 0 ,
    PDGFB 0.00 0 ,
    PDGFRB 0.00 0 ,
    PDHA1 0.00 0 ,
    PDHB 0.00 0 ,
    PDHX 0.00 0 ,
    PDSS1 0.00 0 ,
    PDYN 0.00 0 ,
    PEPD 0.00 0 ,
    PET100 0.00 0 ,
    PEX1 0.00 0 ,
    PEX10 0.00 0 ,
    PEX11B 0.00 0 ,
    PEX12 0.00 0 ,
    PEX13 0.00 0 ,
    PEX14 0.00 0 ,
    PEX16 0.00 0 ,
    PEX19 0.00 0 ,
    PEX2 0.00 0 ,
    PEX26 0.00 0 ,
    PEX3 0.00 0 ,
    PEX5 0.00 0 ,
    PEX6 0.00 0 ,
    PEX7 0.00 0 ,
    PFKM 0.00 0 ,
    PGAP1 0.00 0 ,
    PGAP2 0.00 0 ,
    PGAP3 0.00 0 ,
    PGM1 0.00 0 ,
    PGM3 0.00 0 ,
    PHF21A 0.00 0 ,
    PHF6 0.00 0 ,
    PHF8 0.00 0 ,
    PHGDH 0.00 0 ,
    PHIP 0.00 0 ,
    PHOX2B 0.00 0 ,
    PIBF1 0.00 0 ,
    PIEZO1 0.00 0 ,
    PIEZO2 0.00 0 ,
    PIGA 0.00 0 ,
    PIGG 0.00 0 ,
    PIGL 0.00 0 ,
    PIGN 0.00 0 ,
    PIGO 0.00 0 ,
    PIGS 0.00 0 ,
    PIGT 0.00 0 ,
    PIGV 0.00 0 ,
    PIGY 0.00 0 ,
    DNAAF6 0.00 0 ,
    PIK3C2A 0.00 0 ,
    PIK3CA 0.00 0 ,
    PIK3R1 0.00 0 ,
    PIK3R2 0.00 0 ,
    PIP5K1C 0.00 0 ,
    PITX1 0.00 0 ,
    PITX2 0.00 0 ,
    PITX3 0.00 0 ,
    PKD1 0.00 0 ,
    PKD1L1 0.00 0 ,
    PKD2 0.00 0 ,
    PKHD1 0.00 0 ,
    PKLR 0.00 0 ,
    PLAA 0.00 0 ,
    PLAG1 0.00 0 ,
    PLCB1 0.00 0 ,
    PLCB4 0.00 0 ,
    PRKCSH 0.00 0 ,
    PLEC 0.00 0 ,
    PLG 0.00 0 ,
    PLK4 0.00 0 ,
    PLOD1 0.00 0 ,
    PLOD2 0.00 0 ,
    PLOD3 0.00 0 ,
    PLP1 0.00 0 ,
    PLPBP 0.00 0 ,
    PMM2 0.00 0 ,
    PMP22 0.00 0 ,
    PMS2 0.00 0 ,
    PNKP 0.00 0 ,
    PNPLA1 0.00 0 ,
    POC1A 0.00 0 ,
    POGZ 0.00 0 ,
    POLE 0.00 0 ,
    POLG2 0.00 0 ,
    POLR1A 0.00 0 ,
    POLR1B 0.00 0 ,
    POLR1C 0.00 0 ,
    POLR1D 0.00 0 ,
    POLR3A 0.00 0 ,
    POLR3B 0.00 0 ,
    POMGNT1 0.00 0 ,
    POMGNT2 0.00 0 ,
    POMK 0.00 0 ,
    POMT1 0.00 0 ,
    POMT2 0.00 0 ,
    BVES 0.00 0 ,
    PORCN 0.00 0 ,
    POU1F1 0.00 0 ,
    PPIB 0.00 0 ,
    PPP1CB 0.00 0 ,
    PPP2R1A 0.00 0 ,
    PPP2R5D 0.00 0 ,
    PPP3CA 0.00 0 ,
    PQBP1 0.00 0 ,
    PRDM5 0.00 0 ,
    PREPL 0.00 0 ,
    PRG4 0.00 0 ,
    PRIM1 0.00 0 ,
    PRKAG2 0.00 0 ,
    PRKAR1A 0.00 0 ,
    PRKD1 0.00 0 ,
    PRMT7 0.00 0 ,
    PROK2 0.00 0 ,
    PROKR2 0.00 0 ,
    PROP1 0.00 0 ,
    PRR12 0.00 0 ,
    PRRX1 0.00 0 ,
    PRSS56 0.00 0 ,
    PRUNE1 0.00 0 ,
    PRX 0.00 0 ,
    PSAP 0.00 0 ,
    PSAT1 0.00 0 ,
    PSPH 0.00 0 ,
    PTCH1 0.00 0 ,
    PTCH2 0.00 0 ,
    PTDSS1 0.00 0 ,
    PTEN 0.00 0 ,
    PTF1A 0.00 0 ,
    PTH 0.00 0 ,
    PTH1R 0.00 0 ,
    PTHLH 0.00 0 ,
    PTPN11 0.00 0 ,
    PTPN14 0.00 0 ,
    PTS 0.00 0 ,
    PUF60 0.00 0 ,
    PXDN 0.00 0 ,
    PYCR1 0.00 0 ,
    PYCR2 0.00 0 ,
    PYGM 0.00 0 ,
    PYROXD1 0.00 0 ,
    QARS1 0.00 0 ,
    QRICH1 0.00 0 ,
    RAB11A 0.00 0 ,
    RAB11B 0.00 0 ,
    RAB18 0.00 0 ,
    RAB23 0.00 0 ,
    RAB33B 0.00 0 ,
    RAB3GAP1 0.00 0 ,
    RAB3GAP2 0.00 0 ,
    RAB40AL 0.00 0 ,
    RAC1 0.00 0 ,
    NCOA3 0.00 0 ,
    RAD21 0.00 0 ,
    RAD51 0.00 0 ,
    RAD51C 0.00 0 ,
    RAF1 0.00 0 ,
    RAI1 0.00 0 ,
    RAPSN 0.00 0 ,
    RARB 0.00 0 ,
    RARS2 0.00 0 ,
    RASA1 0.00 0 ,
    PRKRA 0.00 0 ,
    RB1 0.00 0 ,
    RBBP8 0.00 0 ,
    RBM10 0.00 0 ,
    RBM8A 0.00 0 ,
    RBPJ 0.00 0 ,
    RCOR1 0.00 0 ,
    RD3 0.00 0 ,
    RDH12 0.00 0 ,
    RECQL4 0.00 0 ,
    RELN 0.00 0 ,
    REN 0.00 0 ,
    RERE 0.00 0 ,
    RET 0.00 0 ,
    RFT1 0.00 0 ,
    RFX6 0.00 0 ,
    RIN2 0.00 0 ,
    RIPK4 0.00 0 ,
    RIT1 0.00 0 ,
    RLIM 0.00 0 ,
    RMND1 0.00 0 ,
    RNASEH2A 0.00 0 ,
    RNASEH2B 0.00 0 ,
    RNASEH2C 0.00 0 ,
    RNASET2 0.00 0 ,
    ROBO1 0.00 0 ,
    ROBO3 0.00 0 ,
    ROGDI 0.00 0 ,
    ROR2 0.00 0 ,
    RORA 0.00 0 ,
    RPE65 0.00 0 ,
    RPGRIP1 0.00 0 ,
    RPGRIP1L 0.00 0 ,
    RPL15 0.00 0 ,
    RPL11 0.00 0 ,
    RPL26 0.00 0 ,
    RPL35A 0.00 0 ,
    RPL5 0.00 0 ,
    RPS10 0.00 0 ,
    RPS17 0.00 0 ,
    RPS19 0.00 0 ,
    RPS23 0.00 0 ,
    RPS24 0.00 0 ,
    RPS26 0.00 0 ,
    RPS6KA3 0.00 0 ,
    RPS7 0.00 0 ,
    RRAS 0.00 0 ,
    RRAS2 0.00 0 ,
    RRM2B 0.00 0 ,
    RSPH4A 0.00 0 ,
    RSPH9 0.00 0 ,
    RSPRY1 0.00 0 ,
    RTEL1 0.00 0 ,
    RTTN 0.00 0 ,
    RUNX2 0.00 0 ,
    RXYLT1 0.00 0 ,
    RYR1 0.00 0 ,
    SACS 0.00 0 ,
    SALL1 0.00 0 ,
    SALL4 0.00 0 ,
    SAMD9 0.00 0 ,
    SAMHD1 0.00 0 ,
    SASS6 0.00 0 ,
    SATB2 0.00 0 ,
    SBDS 0.00 0 ,
    SC5D 0.00 0 ,
    SCARF2 0.00 0 ,
    SCLT1 0.00 0 ,
    SCN1A 0.00 0 ,
    SCN2A 0.00 0 ,
    SCN3A 0.00 0 ,
    SCN4A 0.00 0 ,
    SCO2 0.00 0 ,
    SCUBE3 0.00 0 ,
    SCYL1 0.00 0 ,
    SDCCAG8 0.00 0 ,
    SDR9C7 0.00 0 ,
    SEC23A 0.00 0 ,
    SEC23B 0.00 0 ,
    SEC24D 0.00 0 ,
    SEC61B 0.00 0 ,
    SECISBP2 0.00 0 ,
    SELENON 0.00 0 ,
    SEMA3A 0.00 0 ,
    SEMA3E 0.00 0 ,
    SEPSECS 0.00 0 ,
    SEPTIN9 0.00 0 ,
    SERPINF1 0.00 0 ,
    SERPINH1 0.00 0 ,
    SET 0.00 0 ,
    SETBP1 0.00 0 ,
    SETD1A 0.00 0 ,
    SETD1B 0.00 0 ,
    SETD2 0.00 0 ,
    SETD5 0.00 0 ,
    SF3B4 0.00 0 ,
    SGCG 0.00 0 ,
    SGPL1 0.00 0 ,
    SGSH 0.00 0 ,
    SH3PXD2B 0.00 0 ,
    SHANK1 0.00 0 ,
    SHANK2 0.00 0 ,
    SHANK3 0.00 0 ,
    SHH 0.00 0 ,
    SHOC2 0.00 0 ,
    SHOX 0.00 0 ,
    SHROOM3 0.00 0 ,
    SIK3 0.00 0 ,
    SIL1 0.00 0 ,
    SIN3A 0.00 0 ,
    SIX1 0.00 0 ,
    SIX3 0.00 0 ,
    SIX5 0.00 0 ,
    SIX6 0.00 0 ,
    HHAT 0.00 0 ,
    SLC10A7 0.00 0 ,
    SLC12A1 0.00 0 ,
    SLC12A6 0.00 0 ,
    SLC13A5 0.00 0 ,
    SLC16A2 0.00 0 ,
    SLC17A5 0.00 0 ,
    SLC18A3 0.00 0 ,
    SLC1A2 0.00 0 ,
    SLC20A1 0.00 0 ,
    SLC20A2 0.00 0 ,
    SLC24A4 0.00 0 ,
    SLC25A19 0.00 0 ,
    SLC25A20 0.00 0 ,
    SLC25A22 0.00 0 ,
    SLC25A24 0.00 0 ,
    SLC25A38 0.00 0 ,
    SLC25A4 0.00 0 ,
    SLC26A2 0.00 0 ,
    SLC26A3 0.00 0 ,
    SLC27A4 0.00 0 ,
    SLC29A3 0.00 0 ,
    SLC2A10 0.00 0 ,
    SLC33A1 0.00 0 ,
    SLC35A1 0.00 0 ,
    SLC35A2 0.00 0 ,
    SLC35A3 0.00 0 ,
    SLC35C1 0.00 0 ,
    SLC35D1 0.00 0 ,
    SLC39A8 0.00 0 ,
    SLC45A1 0.00 0 ,
    SLC5A7 0.00 0 ,
    SLC6A17 0.00 0 ,
    SLC6A8 0.00 0 ,
    SLC6A9 0.00 0 ,
    SLC7A9 0.00 0 ,
    SLC9A6 0.00 0 ,
    SLIT2 0.00 0 ,
    SLX4 0.00 0 ,
    SMAD3 0.00 0 ,
    SMAD4 0.00 0 ,
    SMARCA2 0.00 0 ,
    SMARCA4 0.00 0 ,
    SMARCB1 0.00 0 ,
    SMARCC1 0.00 0 ,
    SMARCE1 0.00 0 ,
    SMC1A 0.00 0 ,
    SMC3 0.00 0 ,
    SMCHD1 0.00 0 ,
    SMG9 0.00 0 ,
    SMN1 0.00 0 ,
    SMO 0.00 0 ,
    SMOC1 0.00 0 ,
    SMOC2 0.00 0 ,
    SMPD1 0.00 0 ,
    SMPD4 0.00 0 ,
    SNAP25 0.00 0 ,
    SNAP29 0.00 0 ,
    SNIP1 0.00 0 ,
    SNRPB 0.00 0 ,
    SNRPE 0.00 0 ,
    SNX10 0.00 0 ,
    SNX14 0.00 0 ,
    SON 0.00 0 ,
    SOS1 0.00 0 ,
    SOS2 0.00 0 ,
    SOST 0.00 0 ,
    SOX10 0.00 0 ,
    SOX11 0.00 0 ,
    SOX17 0.00 0 ,
    SOX18 0.00 0 ,
    SOX2 0.00 0 ,
    SOX3 0.00 0 ,
    SOX5 0.00 0 ,
    SOX6 0.00 0 ,
    SOX9 0.00 0 ,
    SP7 0.00 0 ,
    SPAG1 0.00 0 ,
    SPARC 0.00 0 ,
    AFG2A 0.00 0 ,
    SPATA7 0.00 0 ,
    SPECC1L 0.00 0 ,
    SPEG 0.00 0 ,
    SPG11 0.00 0 ,
    SPRED1 0.00 0 ,
    SPRY4 0.00 0 ,
    SPTAN1 0.00 0 ,
    SRCAP 0.00 0 ,
    SRD5A2 0.00 0 ,
    SRD5A3 0.00 0 ,
    SRGAP1 0.00 0 ,
    SRP54 0.00 0 ,
    SRY 0.00 0 ,
    ST14 0.00 0 ,
    ST3GAL3 0.00 0 ,
    ST3GAL5 0.00 0 ,
    STAC3 0.00 0 ,
    STAG2 0.00 0 ,
    STAMBP 0.00 0 ,
    STAT3 0.00 0 ,
    STAT5B 0.00 0 ,
    STIL 0.00 0 ,
    STRA6 0.00 0 ,
    STRADA 0.00 0 ,
    STS 0.00 0 ,
    STX1B 0.00 0 ,
    STXBP1 0.00 0 ,
    SUCLG1 0.00 0 ,
    SUFU 0.00 0 ,
    SULT2B1 0.00 0 ,
    SUMF1 0.00 0 ,
    SUMO1 0.00 0 ,
    SUZ12 0.00 0 ,
    SYN1 0.00 0 ,
    SYNE1 0.00 0 ,
    SYNM 0.00 0 ,
    SZT2 0.00 0 ,
    TAB2 0.00 0 ,
    TAC3 0.00 0 ,
    TACO1 0.00 0 ,
    TACR3 0.00 0 ,
    TAF1 0.00 0 ,
    TAF13 0.00 0 ,
    TAF2 0.00 0 ,
    TALDO1 0.00 0 ,
    TAPT1 0.00 0 ,
    WWTR1 0.00 0 ,
    TBC1D1 0.00 0 ,
    TBC1D20 0.00 0 ,
    TBC1D23 0.00 0 ,
    TBC1D24 0.00 0 ,
    TBC1D32 0.00 0 ,
    TBCD 0.00 0 ,
    TBCE 0.00 0 ,
    TBCK 0.00 0 ,
    TBL1XR1 0.00 0 ,
    TBR1 0.00 0 ,
    TBX1 0.00 0 ,
    TBX15 0.00 0 ,
    TBX18 0.00 0 ,
    TBX20 0.00 0 ,
    TBX22 0.00 0 ,
    TBX3 0.00 0 ,
    TBX4 0.00 0 ,
    TBX5 0.00 0 ,
    TBX6 0.00 0 ,
    TBXT 0.00 0 ,
    TCF12 0.00 0 ,
    TCF20 0.00 0 ,
    TCF4 0.00 0 ,
    TCIRG1 0.00 0 ,
    TCOF1 0.00 0 ,
    DYNLT2B 0.00 0 ,
    TCTN1 0.00 0 ,
    TCTN2 0.00 0 ,
    TCTN3 0.00 0 ,
    TECPR2 0.00 0 ,
    TELO2 0.00 0 ,
    TENM3 0.00 0 ,
    TENT5A 0.00 0 ,
    TFAP2A 0.00 0 ,
    TFAP2B 0.00 0 ,
    TGDS 0.00 0 ,
    TGFB2 0.00 0 ,
    TGFB3 0.00 0 ,
    TGFBR1 0.00 0 ,
    TGFBR2 0.00 0 ,
    TGIF1 0.00 0 ,
    TGM1 0.00 0 ,
    THOC2 0.00 0 ,
    THOC6 0.00 0 ,
    THRA 0.00 0 ,
    THSD1 0.00 0 ,
    TINF2 0.00 0 ,
    TLL1 0.00 0 ,
    TMCO1 0.00 0 ,
    TMEM107 0.00 0 ,
    TMEM138 0.00 0 ,
    TMEM165 0.00 0 ,
    TMEM216 0.00 0 ,
    TMEM231 0.00 0 ,
    TMEM237 0.00 0 ,
    TMEM260 0.00 0 ,
    TMEM38B 0.00 0 ,
    TMEM67 0.00 0 ,
    TMEM70 0.00 0 ,
    TMEM94 0.00 0 ,
    TMEM98 0.00 0 ,
    TMTC3 0.00 0 ,
    TMX2 0.00 0 ,
    TNC 0.00 0 ,
    TNFRSF13B 0.00 0 ,
    TNNI2 0.00 0 ,
    TNNT1 0.00 0 ,
    TNNT3 0.00 0 ,
    TNXB 0.00 0 ,
    TOE1 0.00 0 ,
    TOP3A 0.00 0 ,
    TOR1A 0.00 0 ,
    TP53RK 0.00 0 ,
    TP63 0.00 0 ,
    TPM2 0.00 0 ,
    TPM3 0.00 0 ,
    TRAF3IP1 0.00 0 ,
    TRAF7 0.00 0 ,
    TRAIP 0.00 0 ,
    TRAP1 0.00 0 ,
    TRAPPC11 0.00 0 ,
    TRAPPC12 0.00 0 ,
    TRAPPC9 0.00 0 ,
    TREM2 0.00 0 ,
    TREX1 0.00 0 ,
    TRIM32 0.00 0 ,
    TRIM37 0.00 0 ,
    TRIO 0.00 0 ,
    TRIP11 0.00 0 ,
    TRIP12 0.00 0 ,
    TRIP13 0.00 0 ,
    TRIP4 0.00 0 ,
    TRMT10A 0.00 0 ,
    TRMT10C 0.00 0 ,
    TRPM7 0.00 0 ,
    TRPS1 0.00 0 ,
    TRPV3 0.00 0 ,
    TRPV4 0.00 0 ,
    TRPV6 0.00 0 ,
    TSC1 0.00 0 ,
    TSC2 0.00 0 ,
    TSEN15 0.00 0 ,
    TSEN2 0.00 0 ,
    TSEN34 0.00 0 ,
    TSEN54 0.00 0 ,
    TSFM 0.00 0 ,
    TSPYL1 0.00 0 ,
    TTC21B 0.00 0 ,
    ODAD4 0.00 0 ,
    SKIC3 0.00 0 ,
    TTC7A 0.00 0 ,
    TTC8 0.00 0 ,
    TTC9 0.00 0 ,
    TTI2 0.00 0 ,
    TTN 0.00 0 ,
    TUBA1A 0.00 0 ,
    TUBA8 0.00 0 ,
    TUBB 0.00 0 ,
    TUBB2A 0.00 0 ,
    TUBB2B 0.00 0 ,
    TUBB3 0.00 0 ,
    TUBB4A 0.00 0 ,
    TUBG1 0.00 0 ,
    TUBGCP4 0.00 0 ,
    TUBGCP6 0.00 0 ,
    TUFM 0.00 0 ,
    TULP1 0.00 0 ,
    TWIST1 0.00 0 ,
    TWIST2 0.00 0 ,
    TXNDC15 0.00 0 ,
    TXNL4A 0.00 0 ,
    TYR 0.00 0 ,
    TYROBP 0.00 0 ,
    UBA1 0.00 0 ,
    UBB 0.00 0 ,
    UBE2T 0.00 0 ,
    UBE3A 0.00 0 ,
    UBE3B 0.00 0 ,
    UBR1 0.00 0 ,
    UBTF 0.00 0 ,
    UFD1 0.00 0 ,
    UMOD 0.00 0 ,
    UMPS 0.00 0 ,
    UNC50 0.00 0 ,
    UPF3B 0.00 0 ,
    UPK3A 0.00 0 ,
    UQCRB 0.00 0 ,
    UQCRQ 0.00 0 ,
    UROS 0.00 0 ,
    USP18 0.00 0 ,
    USP27X 0.00 0 ,
    USP9X 0.00 0 ,
    UTRN 0.00 0 ,
    VAMP1 0.00 0 ,
    VANGL1 0.00 0 ,
    VANGL2 0.00 0 ,
    VAX1 0.00 0 ,
    VDR 0.00 0 ,
    VEGFC 0.00 0 ,
    VIPAS39 0.00 0 ,
    VLDLR 0.00 0 ,
    VMA21 0.00 0 ,
    VPS13B 0.00 0 ,
    VPS33B 0.00 0 ,
    VPS53 0.00 0 ,
    VRK1 0.00 0 ,
    VSX2 0.00 0 ,
    VTI1A 0.00 0 ,
    VWA2 0.00 0 ,
    WASHC5 0.00 0 ,
    WBP11 0.00 0 ,
    WDPCP 0.00 0 ,
    WDR11 0.00 0 ,
    WDR19 0.00 0 ,
    WDR26 0.00 0 ,
    DYNC2I2 0.00 0 ,
    WDR35 0.00 0 ,
    WDR4 0.00 0 ,
    DYNC2I1 0.00 0 ,
    WDR62 0.00 0 ,
    WDR73 0.00 0 ,
    WDR81 0.00 0 ,
    WNT1 0.00 0 ,
    WNT10B 0.00 0 ,
    WNT3 0.00 0 ,
    WNT4 0.00 0 ,
    WNT5A 0.00 0 ,
    WNT7A 0.00 0 ,
    WRAP53 0.00 0 ,
    WT1 0.00 0 ,
    WWOX 0.00 0 ,
    XRCC4 0.00 0 ,
    XYLT1 0.00 0 ,
    XYLT2 0.00 0 ,
    YAP1 0.00 0 ,
    YWHAG 0.00 0 ,
    YY1 0.00 0 ,
    ZBTB18 0.00 0 ,
    ZBTB20 0.00 0 ,
    ZC4H2 0.00 0 ,
    ZDHHC9 0.00 0 ,
    ZEB2 0.00 0 ,
    ZFP57 0.00 0 ,
    ZFPM2 0.00 0 ,
    ZFYVE26 0.00 0 ,
    ZIC1 0.00 0 ,
    ZIC2 0.00 0 ,
    ZIC3 0.00 0 ,
    ZMPSTE24 0.00 0 ,
    ZMYND10 0.00 0 ,
    ZMYND11 0.00 0 ,
    ZNF423 0.00 0 ,
    ZNF462 0.00 0 ,
    ZNF469 0.00 0 ,
    ZNF750 0.00 0 ,
    ZNRF3 0.00 0 ,
    ZPR1 0.00 0 ,
    ZSWIM6 0.00 0 ,
  • Congenital malformation gene panel - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 100.00 0 No comment
    ABAT 100.00 0 No comment
    ABCC6 100.00 0 No comment
    ABCD1 99.93 0 No comment
    ABCD3 99.97 0 No comment
    ABL1 100.00 0 No comment
    ACAN 98.89 0 No comment
    ACO2 100.00 0 No comment
    ACTA1 100.00 0 No comment
    ACTB 100.00 0 No comment
    ACTG1 100.00 0 No comment
    ADAMTS10 99.88 0 No comment
    ADAMTS17 89.95 0 No comment
    ADAMTSL2 100.00 0 No comment
    ADAR 100.00 0 No comment
    ADGRG1 100.00 0 No comment
    ADGRG6 100.00 0 No comment
    ADSL 100.00 0 No comment
    AHI1 100.00 0 No comment
    AIMP1 100.00 0 No comment
    AIPL1 100.00 0 No comment
    AIRE 99.88 0 No comment
    AKR1C2 99.98 0 No comment
    AKT1 100.00 0 No comment
    AKT3 100.00 0 No comment
    ALDH1A3 99.83 0 No comment
    ALMS1 100.00 0 No comment
    ALPL 100.00 0 No comment
    ALX1 100.00 0 No comment
    ALX3 91.36 0 No comment
    ALX4 99.70 0 No comment
    AMER1 100.00 0 No comment
    AMT 99.94 0 No comment
    ANKRD11 100.00 0 No comment
    ANOS1 95.04 0 No comment
    ANTXR2 100.00 0 No comment
    AP4B1 100.00 0 No comment
    AR 99.29 0 No comment
    ARFGEF2 100.00 0 No comment
    ARHGAP31 100.00 0 No comment
    ARID1A 94.64 0 No comment
    ARID1B 92.99 0 No comment
    ARL13B 100.00 0 No comment
    ARL6 100.00 0 No comment
    ARVCF 100.00 0 No comment
    ARX 78.98 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
    ATL1 100.00 0 No comment
    ATM 100.00 0 No comment
    ATP6V0A2 100.00 0 No comment
    ATP7A 100.00 0 No comment
    ATP8A2 99.93 0 No comment
    ANTXR1 100.00 0 No comment
    ATRX 100.00 0 No comment
    ATXN10 99.48 0 No comment
    B3GALNT2 85.88 0 No comment
    B3GALT6 56.12 0 No comment
    B3GAT3 95.56 0 No comment
    B3GLCT 94.89 0 No comment
    B4GALT1 100.00 0 No comment
    B4GAT1 100.00 0 No comment
    B9D1 100.00 0 No comment
    B9D2 100.00 0 No comment
    BBIP1 100.00 0 No comment
    BBS1 100.00 0 No comment
    BBS10 100.00 0 No comment
    BBS12 100.00 0 No comment
    BBS2 100.00 0 No comment
    BBS4 100.00 0 No comment
    BBS5 100.00 0 No comment
    BBS7 100.00 0 No comment
    BBS9 100.00 0 No comment
    BCOR 100.00 0 No comment
    BDNF 100.00 0 No comment
    BIN1 100.00 0 No comment
    BMP2 100.00 0 No comment
    BMP4 100.00 0 No comment
    BMPER 100.00 0 No comment
    BMPR1B 100.00 0 No comment
    BRAF 96.97 0 No comment
    BRIP1 100.00 0 No comment
    BSND 100.00 0 No comment
    BUB1 100.00 0 No comment
    BUB1B 100.00 0 No comment
    BUB3 100.00 0 No comment
    C12ORF57 100.00 0 No comment
    CACNA1A 98.78 0 No comment
    CASK 100.00 0 No comment
    CBL 100.00 0 No comment
    CC2D2A 98.16 0 No comment
    CCBE1 99.97 0 No comment
    CCDC28B 100.00 0 No comment
    CCM2 99.98 0 No comment
    CCNQ 84.41 0 No comment
    CD96 100.00 0 No comment
    CDC6 100.00 0 No comment
    CDH1 98.08 0 No comment
    CDKL5 100.00 0 No comment
    CDKN1C 62.25 0 No comment
    CDON 100.00 0 No comment
    CDT1 87.95 0 No comment
    CENPF 100.00 0 No comment
    CEP164 100.00 0 No comment
    CEP290 99.99 0 No comment
    CEP41 100.00 0 No comment
    CEP57 100.00 0 No comment
    CFTR 99.91 0 No comment
    CHAT 100.00 0 No comment
    CHD7 100.00 0 No comment
    CHMP1A 100.00 0 No comment
    CHN1 99.56 0 No comment
    CHRNA1 100.00 0 No comment
    CHRNB1 100.00 0 No comment
    CHRND 100.00 0 No comment
    CHRNE 100.00 0 No comment
    CHRNG 100.00 0 No comment
    CHST14 98.57 0 No comment
    CHST3 100.00 0 No comment
    CHSY1 91.67 0 No comment
    CHUK 99.76 0 No comment
    CKAP2L 100.00 0 No comment
    CNTN1 100.00 0 No comment
    COG4 100.00 0 No comment
    COL11A1 100.00 0 No comment
    COL11A2 99.14 0 No comment
    COL18A1 97.80 0 No comment
    COL1A1 100.00 0 No comment
    COL1A2 99.93 0 No comment
    COL2A1 100.00 0 No comment
    COL3A1 100.00 0 No comment
    COL4A1 98.71 0 No comment
    COL5A1 98.16 0 No comment
    COL5A2 100.00 0 No comment
    COL6A1 100.00 0 No comment
    COL6A2 100.00 0 No comment
    COL6A3 100.00 0 No comment
    COL7A1 100.00 0 No comment
    COL9A1 100.00 0 No comment
    COL9A2 100.00 0 No comment
    COLEC11 100.00 0 No comment
    COMT 100.00 0 No comment
    COX7B 99.88 0 No comment
    CPLANE1 100.00 0 No comment
    CPT2 98.71 0 No comment
    CRB1 100.00 0 No comment
    CREBBP 100.00 0 No comment
    CRH 100.00 0 No comment
    CRLF1 89.81 0 No comment
    CRPPA 95.75 0 No comment
    CRX 100.00 0 No comment
    CSPP1 100.00 0 No comment
    CTCF 100.00 0 No comment
    CTNS 100.00 0 No comment
    CTSA 100.00 0 No comment
    CUL7 99.99 0 No comment
    CXCR4 100.00 0 No comment
    CYP11B1 100.00 0 No comment
    CYP17A1 100.00 0 No comment
    CYP19A1 100.00 0 No comment
    CYP21A2 100.00 0 No comment
    CYP2U1 93.04 0 No comment
    DARS1 100.00 0 No comment
    DCHS1 99.64 0 No comment
    DCX 100.00 0 No comment
    DDHD2 100.00 0 No comment
    DDX59 100.00 0 No comment
    DHCR24 99.96 0 No comment
    DHCR7 100.00 0 No comment
    DHH 99.75 0 No comment
    DHODH 100.00 0 No comment
    DIS3L2 100.00 0 No comment
    DKC1 100.00 0 No comment
    DLL3 78.42 0 No comment
    DLX5 100.00 0 No comment
    DMD 100.00 0 No comment
    DMPK 99.97 0 No comment
    DNM2 99.95 0 No comment
    DOCK6 99.12 0 No comment
    DOK7 98.77 0 No comment
    DPYD 100.00 0 No comment
    DSP 100.00 0 No comment
    DUSP6 100.00 0 No comment
    DYM 100.00 0 No comment
    DYNC1H1 100.00 0 No comment
    DYNC2H1 100.00 0 No comment
    EARS2 100.00 0 No comment
    GLB1 100.00 0 No comment
    ECEL1 95.92 0 No comment
    EFNB1 100.00 0 No comment
    EFTUD2 100.00 0 No comment
    EGR2 100.00 0 No comment
    EHMT1 98.85 0 No comment
    EIF2AK3 95.52 0 No comment
    EIF4A3 100.00 0 No comment
    EMD 99.84 0 No comment
    EMG1 100.00 0 No comment
    EMX2 100.00 0 No comment
    EOGT 100.00 0 No comment
    EP300 100.00 0 No comment
    EPG5 100.00 0 No comment
    EPHX1 100.00 0 No comment
    ERBB3 100.00 0 No comment
    ERCC1 100.00 0 No comment
    ERCC2 100.00 0 No comment
    ERCC4 100.00 0 No comment
    ERCC5 100.00 0 No comment
    ERCC6 100.00 0 No comment
    ERLIN2 100.00 0 No comment
    ESCO2 100.00 0 No comment
    EVC 94.45 0 No comment
    EVC2 99.55 0 No comment
    EYA1 100.00 0 No comment
    EZH2 100.00 0 No comment
    FA2H 92.06 0 No comment
    FAM111A 100.00 0 No comment
    FAM20C 92.71 0 No comment
    FANCA 99.70 0 No comment
    FANCB 100.00 0 No comment
    FANCC 100.00 0 No comment
    FANCD2 100.00 0 No comment
    FANCE 91.17 0 No comment
    FANCF 100.00 0 No comment
    FANCG 100.00 0 No comment
    FANCI 100.00 0 No comment
    FANCL 100.00 0 No comment
    FANCM 100.00 0 No comment
    FAT4 100.00 0 No comment
    FBN1 100.00 0 No comment
    FBN2 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FGD1 99.39 0 No comment
    FGF10 100.00 0 No comment
    FGF17 100.00 0 No comment
    FGF8 94.82 0 No comment
    FGF9 100.00 0 No comment
    FGFR1 100.00 0 No comment
    FGFR2 100.00 0 No comment
    FGFR3 99.26 0 No comment
    FH 100.00 0 No comment
    FIG4 100.00 0 No comment
    FKBP14 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNA 100.00 0 No comment
    FLNB 100.00 0 No comment
    FLRT3 100.00 0 No comment
    FLT4 98.20 0 No comment
    FLVCR2 100.00 0 No comment
    FOXC1 62.57 0 No comment
    FOXC2 72.63 0 No comment
    FOXE1 60.48 0 No comment
    FOXG1 85.88 0 No comment
    FRAS1 100.00 0 No comment
    FREM1 100.00 0 No comment
    FREM2 100.00 0 No comment
    FTO 100.00 0 No comment
    FUZ 100.00 0 No comment
    G6PC3 100.00 0 No comment
    GAA 100.00 0 No comment
    GATA1 100.00 0 No comment
    GATA4 80.69 0 No comment
    GATA6 81.11 0 No comment
    GBA1 100.00 0 No comment
    GBA2 100.00 0 No comment
    GBE1 100.00 0 No comment
    GCSH 76.04 0 No comment
    GDF1 58.25 0 No comment
    GDF3 100.00 0 No comment
    GDF5 100.00 0 No comment
    GDF6 93.56 0 No comment
    GFAP 100.00 0 No comment
    GFM1 100.00 0 No comment
    GJA1 100.00 0 No comment
    GJB2 98.23 0 No comment
    GJC2 81.91 0 No comment
    GLDC 96.53 0 No comment
    GLE1 100.00 0 No comment
    GLI2 95.11 0 No comment
    GLI3 100.00 0 No comment
    GLUL 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNAI3 100.00 0 No comment
    GNAO1 100.00 0 No comment
    GNPTAB 100.00 0 No comment
    GNPTG 94.69 0 No comment
    GP1BB 25.16 0 No comment
    GPC3 100.00 0 No comment
    GPC6 100.00 0 No comment
    GPI 100.00 0 No comment
    GPSM2 100.00 0 No comment
    GRHL3 100.00 0 No comment
    GRIP1 100.00 0 No comment
    GRM1 100.00 0 No comment
    GUCY2D 99.13 0 No comment
    GUSB 100.00 0 No comment
    H19 100.00 0 No comment
    HADHA 100.00 0 No comment
    HADHB 100.00 0 No comment
    HCCS 100.00 0 No comment
    HDAC8 100.00 0 No comment
    HES7 99.67 0 No comment
    HESX1 100.00 0 No comment
    HIBCH 100.00 0 No comment
    HIRA 99.90 0 No comment
    HOXA11 99.40 0 No comment
    HOXA13 73.35 0 No comment
    HOXA2 99.99 0 No comment
    HOXD13 80.52 0 No comment
    HPGD 99.99 0 No comment
    HRAS 100.00 0 No comment
    HS6ST1 98.52 0 No comment
    HSD17B3 100.00 0 No comment
    HSD17B4 100.00 0 No comment
    HSPG2 99.43 0 No comment
    HYAL1 100.00 0 No comment
    HYLS1 100.00 0 No comment
    IBA57 87.89 0 No comment
    CILK1 100.00 0 No comment
    IDS 100.00 0 No comment
    IDUA 88.67 0 No comment
    IER3IP1 99.93 0 No comment
    IFIH1 100.00 0 No comment
    IFT172 100.00 0 No comment
    IFT27 100.00 0 No comment
    IFT80 100.00 0 No comment
    IFT88 99.71 0 No comment
    IGBP1 100.00 0 No comment
    IGHMBP2 100.00 0 No comment
    IHH 99.88 0 No comment
    IKBKG 99.74 0 No comment
    IL10 100.00 0 No comment
    IL17RD 98.31 0 No comment
    IMPDH1 97.72 0 No comment
    INPP5E 99.54 0 No comment
    INSR 97.31 0 No comment
    IQCB1 100.00 0 No comment
    IRF6 100.00 0 No comment
    ITGA6 100.00 0 No comment
    ITGA8 99.96 0 No comment
    ITGB4 98.41 0 No comment
    ITPR1 100.00 0 No comment
    JAG1 99.66 0 No comment
    JAM3 100.00 0 No comment
    JUP 100.00 0 No comment
    KANSL1 100.00 0 No comment
    KAT6B 100.00 0 No comment
    KCNA1 100.00 0 No comment
    KCNJ13 100.00 0 No comment
    KCNJ2 100.00 0 No comment
    KCNK9 100.00 0 No comment
    KCNQ1OT1 0.55 0 No comment
    KCNQ2 99.98 0 No comment
    KCNT1 99.74 0 No comment
    KCTD1 92.53 0 No comment
    KCTD7 97.35 0 No comment
    KDM6A 100.00 0 No comment
    KIF14 100.00 0 No comment
    KIF1A 99.90 0 No comment
    KIFBP 100.00 0 No comment
    KIF2A 98.88 0 No comment
    KIF5C 100.00 0 No comment
    KIF7 96.94 0 No comment
    KISS1R 94.58 0 No comment
    KMT2D 100.00 0 No comment
    KRAS 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
    LCA5 100.00 0 No comment
    LEMD3 100.00 0 No comment
    LFNG 82.55 0 No comment
    LHB 97.18 0 No comment
    LHX3 94.36 0 No comment
    LHX4 100.00 0 No comment
    LIFR 100.00 0 No comment
    LMBR1 100.00 0 No comment
    LMNA 99.93 0 No comment
    LMNB1 97.46 0 No comment
    LMX1B 99.99 0 No comment
    LRAT 100.00 0 No comment
    LRP2 99.96 0 No comment
    CORIN 98.90 0 No comment
    LZTFL1 100.00 0 No comment
    MAP2K1 100.00 0 No comment
    MAP2K2 99.98 0 No comment
    MAP3K1 92.79 0 No comment
    MASP1 100.00 0 No comment
    MBTPS2 100.00 0 No comment
    MCOLN1 97.27 0 No comment
    MCPH1 100.00 0 No comment
    MED12 99.96 0 No comment
    MEF2C 100.00 0 No comment
    MEGF10 100.00 0 No comment
    MEOX1 100.00 0 No comment
    MESP2 100.00 0 No comment
    MFRP 100.00 0 No comment
    MGP 100.00 0 No comment
    MID1 100.00 0 No comment
    MIPOL1 100.00 0 No comment
    MKKS 100.00 0 No comment
    MKS1 100.00 0 No comment
    MLH1 100.00 0 No comment
    MOCS1 99.95 0 No comment
    MOCS2 100.00 0 No comment
    MPL 100.00 0 No comment
    MPZ 100.00 0 No comment
    MRPS16 100.00 0 No comment
    MRPS22 100.00 0 No comment
    MSH2 100.00 0 No comment
    MSH6 100.00 0 No comment
    MSX1 97.41 0 No comment
    MSX2 100.00 0 No comment
    MTM1 100.00 0 No comment
    MUSK 100.00 0 No comment
    MVK 100.00 0 No comment
    MYBPC1 100.00 0 No comment
    MYH2 100.00 0 No comment
    MYH3 100.00 0 No comment
    MYH8 100.00 0 No comment
    MYOD1 98.47 0 No comment
    NAA10 96.03 0 No comment
    NBN 100.00 0 No comment
    NDE1 100.00 0 No comment
    NEB 99.99 0 No comment
    NECTIN1 100.00 0 No comment
    NEK1 100.00 0 No comment
    NEXMIF 100.00 0 No comment
    NF1 99.95 0 No comment
    NFIX 97.15 0 No comment
    NIN 100.00 0 No comment
    NIPBL 99.98 0 No comment
    NKX2-5 100.00 0 No comment
    NMNAT1 100.00 0 No comment
    NODAL 99.99 0 No comment
    NOG 100.00 0 No comment
    NOTCH2 99.76 0 No comment
    NPC1 98.40 0 No comment
    NPC2 100.00 0 No comment
    NPHP1 100.00 0 No comment
    NPHP3 99.87 0 No comment
    NPRL2 100.00 0 No comment
    NR0B1 100.00 0 No comment
    NR5A1 100.00 0 No comment
    NRAS 100.00 0 No comment
    NSD1 100.00 0 No comment
    NSDHL 100.00 0 No comment
    NSMF 95.23 0 No comment
    NT5C2 100.00 0 No comment
    OBSL1 98.31 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
    SLC25A15 100.00 0 No comment
    ORC4 100.00 0 No comment
    ORC6 100.00 0 No comment
    OTX2 100.00 0 No comment
    PAFAH1B1 100.00 0 No comment
    PALB2 100.00 0 No comment
    PAX2 99.80 0 No comment
    PAX3 100.00 0 No comment
    PAX6 100.00 0 No comment
    PCNT 100.00 0 No comment
    PDE4D 98.77 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
    PDHB 100.00 0 No comment
    PDHX 99.87 0 No comment
    PDYN 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
    PFKM 100.00 0 No comment
    PGM1 100.00 0 No comment
    PHF6 100.00 0 No comment
    PHF8 100.00 0 No comment
    PIGA 100.00 0 No comment
    PIGL 100.00 0 No comment
    PIGV 100.00 0 No comment
    PIK3CA 100.00 0 No comment
    PIK3R2 89.19 0 No comment
    PIP5K1C 95.60 0 No comment
    PITX1 98.27 0 No comment
    PKHD1 100.00 0 No comment
    PLCB4 100.00 0 No comment
    PLEC 99.82 0 No comment
    PLK4 100.00 0 No comment
    PLOD1 99.91 0 No comment
    PLOD3 100.00 0 No comment
    PLP1 100.00 0 No comment
    PMM2 100.00 0 No comment
    PMP22 100.00 0 No comment
    PMS2 99.97 0 No comment
    PNKP 100.00 0 No comment
    POLR1C 100.00 0 No comment
    POLR1D 100.00 0 No comment
    POLR3A 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
    PORCN 100.00 0 No comment
    POU1F1 100.00 0 No comment
    PQBP1 100.00 0 No comment
    PRDM5 100.00 0 No comment
    PRG4 100.00 0 No comment
    PRKAR1A 100.00 0 No comment
    PROK2 98.51 0 No comment
    PROKR2 100.00 0 No comment
    PROP1 100.00 0 No comment
    PRRX1 100.00 0 No comment
    PRSS56 98.00 0 No comment
    PRX 100.00 0 No comment
    PSAP 100.00 0 No comment
    PSAT1 100.00 0 No comment
    PTCH1 98.48 0 No comment
    PTCH2 100.00 0 No comment
    PTDSS1 100.00 0 No comment
    PTEN 98.86 0 No comment
    PTH1R 99.01 0 No comment
    PTPN11 98.80 0 No comment
    PYCR1 100.00 0 No comment
    RAB18 100.00 0 No comment
    RAB23 100.00 0 No comment
    RAB3GAP1 100.00 0 No comment
    RAB3GAP2 100.00 0 No comment
    RAB40AL 100.00 0 No comment
    RAD21 100.00 0 No comment
    RAD51C 100.00 0 No comment
    RAF1 100.00 0 No comment
    RAI1 96.06 0 No comment
    RAPSN 100.00 0 No comment
    PRKRA 90.07 0 No comment
    RB1 99.04 0 No comment
    RBM10 100.00 0 No comment
    RBM8A 100.00 0 No comment
    RD3 100.00 0 No comment
    RDH12 100.00 0 No comment
    RECQL4 96.37 0 No comment
    RELN 99.96 0 No comment
    RET 98.13 0 No comment
    RIPK4 100.00 0 No comment
    RIT1 100.00 0 No comment
    RMND1 100.00 0 No comment
    RMRP 100.00 0 No comment
    RNASEH2A 100.00 0 No comment
    RNASEH2B 95.67 0 No comment
    RNASEH2C 100.00 0 No comment
    RNU4ATAC 100.00 0 No comment
    ROR2 98.67 0 No comment
    RPE65 100.00 0 No comment
    RPGRIP1 100.00 0 No comment
    RPGRIP1L 96.45 0 No comment
    RPL11 100.00 0 No comment
    RPL15 86.16 0 No comment
    RPL26 100.00 0 No comment
    RPL35A 100.00 0 No comment
    RPL5 99.37 0 No comment
    RPS10 100.00 0 No comment
    RPS17 98.70 0 No comment
    RPS19 100.00 0 No comment
    RPS24 100.00 0 No comment
    RPS26 100.00 0 No comment
    RPS6KA3 98.71 0 No comment
    RPS7 92.83 0 No comment
    RTTN 100.00 0 No comment
    RUNX2 98.51 0 No comment
    RXYLT1 99.84 0 No comment
    RYR1 98.38 0 No comment
    SACS 99.97 0 No comment
    SALL1 100.00 0 No comment
    SALL4 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SATB2 100.00 0 No comment
    SC5D 100.00 0 No comment
    SCARF2 86.46 0 No comment
    SDCCAG8 100.00 0 No comment
    SEC23A 100.00 0 No comment
    SELENON 84.04 0 No comment
    SEMA3A 100.00 0 No comment
    SEMA3E 100.00 0 No comment
    SEPSECS 99.97 0 No comment
    SEPTIN9 100.00 0 No comment
    SETBP1 99.99 0 No comment
    SF3B4 100.00 0 No comment
    SH3PXD2B 99.68 0 No comment
    SHANK3 83.99 0 No comment
    SHH 92.83 0 No comment
    SHOC2 100.00 0 No comment
    SIX1 100.00 0 No comment
    SIX3 99.59 0 No comment
    SIX5 88.67 0 No comment
    SIX6 100.00 0 No comment
    HHAT 90.28 0 No comment
    SLC12A1 100.00 0 No comment
    SLC12A6 100.00 0 No comment
    SLC20A2 100.00 0 No comment
    SLC25A19 100.00 0 No comment
    SLC26A2 99.96 0 No comment
    SLC2A10 98.97 0 No comment
    SLC35A2 100.00 0 No comment
    SLC35A3 100.00 0 No comment
    SLC35D1 99.99 0 No comment
    SLC6A8 98.78 0 No comment
    SLC9A6 99.96 0 No comment
    SLX4 100.00 0 No comment
    SMAD3 100.00 0 No comment
    SMAD4 100.00 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
    SMOC1 99.36 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
    SOX3 85.62 0 No comment
    SOX9 97.88 0 No comment
    SPATA7 100.00 0 No comment
    SPECC1L 100.00 0 No comment
    SPG11 100.00 0 No comment
    SPRED1 100.00 0 No comment
    SPRY4 100.00 0 No comment
    SPTAN1 100.00 0 No comment
    SRD5A2 100.00 0 No comment
    SRD5A3 99.42 0 No comment
    SRY 39.13 0 No comment
    STAC3 100.00 0 No comment
    STAMBP 100.00 0 No comment
    STAT3 100.00 0 No comment
    STS 100.00 0 No comment
    STXBP1 100.00 0 No comment
    SUFU 100.00 0 No comment
    SUMO1 99.91 0 No comment
    SYNE1 100.00 0 No comment
    TACR3 100.00 0 No comment
    TAF2 100.00 0 No comment
    WWTR1 99.81 0 No comment
    TBC1D20 93.59 0 No comment
    TBX1 77.39 0 No comment
    TBX15 100.00 0 No comment
    TBX22 100.00 0 No comment
    TBX3 99.88 0 No comment
    TBX4 94.32 0 No comment
    TBX5 100.00 0 No comment
    TBX6 100.00 0 No comment
    TBXT 100.00 0 No comment
    TCF4 100.00 0 No comment
    TCOF1 99.99 0 No comment
    TCTN1 93.78 0 No comment
    TCTN2 100.00 0 No comment
    TCTN3 100.00 0 No comment
    TECPR2 100.00 0 No comment
    TFAP2A 100.00 0 No comment
    TGFB3 100.00 0 No comment
    TGFBR1 92.91 0 No comment
    TGFBR2 100.00 0 No comment
    TGIF1 100.00 0 No comment
    TMCO1 100.00 0 No comment
    TMEM138 100.00 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
    TNNI2 100.00 0 No comment
    TNNT3 100.00 0 No comment
    TNXB 100.00 0 No comment
    TP63 100.00 0 No comment
    TPM2 100.00 0 No comment
    TRAPPC9 99.98 0 No comment
    TREM2 100.00 0 No comment
    TREX1 100.00 0 No comment
    TRIM32 100.00 0 No comment
    TRIP11 100.00 0 No comment
    TRPV4 100.00 0 No comment
    TSC1 100.00 0 No comment
    TSC2 100.00 0 No comment
    TSEN34 100.00 0 No comment
    TSEN54 94.23 0 No comment
    TSPYL1 100.00 0 No comment
    TTC8 100.00 0 No comment
    TUBA1A 100.00 0 No comment
    TUBA8 100.00 0 No comment
    TUBB2B 100.00 0 No comment
    TUBB3 98.24 0 No comment
    TUBGCP6 100.00 0 No comment
    TULP1 100.00 0 No comment
    TWIST1 70.93 0 No comment
    TYR 100.00 0 No comment
    TYROBP 100.00 0 No comment
    UBA1 100.00 0 No comment
    UBB 100.00 0 No comment
    UBE3A 100.00 0 No comment
    UBE3B 100.00 0 No comment
    UFD1 100.00 0 No comment
    UPF3B 100.00 0 No comment
    UPK3A 99.39 0 No comment
    UTRN 100.00 0 No comment
    VANGL1 100.00 0 No comment
    VANGL2 100.00 0 No comment
    VAX1 89.49 0 No comment
    VIPAS39 100.00 0 No comment
    VPS13B 99.25 0 No comment
    VPS33B 100.00 0 No comment
    VSX2 100.00 0 No comment
    VTI1A 100.00 0 No comment
    WASHC5 100.00 0 No comment
    WDPCP 100.00 0 No comment
    WDR11 100.00 0 No comment
    WDR19 100.00 0 No comment
    DYNC2I2 93.01 0 No comment
    WDR35 100.00 0 No comment
    DYNC2I1 99.86 0 No comment
    WDR62 100.00 0 No comment
    WDR81 99.97 0 No comment
    WNT10B 98.99 0 No comment
    WNT3 100.00 0 No comment
    WNT4 92.22 0 No comment
    WNT5A 99.97 0 No comment
    WNT7A 100.00 0 No comment
    WT1 96.46 0 No comment
    WWOX 100.00 0 No comment
    ZBTB18 100.00 0 No comment
    ZDHHC9 100.00 0 No comment
    ZEB2 100.00 0 No comment
    ZFPM2 99.96 0 No comment
    ZFYVE26 100.00 0 No comment
    ZIC1 100.00 0 No comment
    ZIC2 80.54 0 No comment
    ZMPSTE24 100.00 0 No comment
    ZNF423 100.00 0 No comment
    ZNF469 99.70 0 No comment
  • Congenital structural heart defects - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AATK 99.98 1
    ABL1 100.00 1
    ACAN 91.51 1
    ACTA1 99.99 1
    ACTB 100.00 1
    ACTC1 98.57 1
    ACTG1 100.00 1
    ACTN2 99.99 1
    ACVR1 99.94 1
    ACVR1B 99.99 1
    ACVR2A 99.15 1
    ACVR2B 99.99 1
    ACVRL1 99.88 1
    ADAMTS10 99.99 1
    ADNP 100.00 1
    AKAP12 100.00 1
    AKT1 100.00 1
    AKT2 99.85 1
    ALDH1A2 99.97 1
    ALX3 99.74 1
    ANKRD1 99.57 1
    ANKRD11 99.85 1
    AP1B1 99.99 1
    APAF1 98.70 1
    AR 99.76 1
    ARHGAP31 100.00 1
    ARID4A 99.90 1
    ATP2A2 99.98 1
    ATRX 99.44 1
    AXIN1 100.00 1
    BCOR 99.97 1
    BMP10 99.96 1
    BMP2 99.79 1
    BMP4 100.00 1
    BMP6 100.00 1
    BMP7 100.00 1
    BMPR1A 99.58 1
    BMPR2 99.95 1
    BRAF 99.78 1
    BRIP1 99.39 1
    BVES 99.83 1
    CASQ2 94.39 1
    CAV1 99.97 1
    CAV3 100.00 1
    CBL 99.95 1
    CCDC103 99.68 1
    CCDC39 99.74 1
    CCDC40 100.00 1
    CCDC65 99.80 1
    CCN1 99.99 1
    CCNO 100.00 1
    CD96 99.91 1
    CDK13 99.83 1
    CDK4 100.00 1
    CDX2 100.00 1
    CENPF 99.97 1
    CFAP53 99.95 1
    CFC1 21.93 1
    CHAC2 99.68 1
    CHD4 99.99 1
    CHD7 99.99 1
    CHD8 99.96 1
    CITED2 100.00 1
    COL1A1 99.90 1
    COL1A2 99.34 1
    COL2A1 99.87 1
    COX7B 99.86 1
    CREBBP 99.97 1
    CRELD1 99.99 1
    CRIP2 99.99 1
    CRYAB 100.00 1
    CSNK1D 99.99 1
    CSRP1 99.75 1
    CSRP3 100.00 1
    CTNNB1 99.95 1
    DDX3X 99.01 1
    DES 100.00 1
    DIAPH3 99.85 1
    DICER1 99.96 1
    DLGAP5 99.83 1
    DLL1 99.99 1
    DLL4 100.00 1
    DNAAF1 99.99 1
    DNAAF11 99.80 1
    DNAAF2 99.91 1
    DNAAF3 99.99 1
    DNAAF4 99.78 1
    DNAAF5 99.99 1
    DNAH11 99.93 1
    DNAH5 99.98 1
    DNAI1 99.92 1
    DNAI2 99.86 1
    DNAJB13 99.91 1
    DNAH9 99.79 1
    DRC1 99.93 1
    DSCAM 99.99 1
    DVL1 100.00 1
    DYRK1A 99.98 1
    E2F1 99.99 1
    ECE1 99.92 1
    EDNRA 99.97 1
    EFEMP2 99.94 1
    EFNB1 99.95 1
    EFTUD2 99.93 1
    EGFR 99.68 1
    EGR1 99.99 1
    EHMT1 98.38 1
    ELN 99.86 1
    ENG 100.00 1
    EOGT 99.09 1
    EP300 99.97 1
    EPHB2 99.86 1
    EPHB4 99.82 1
    ERBB2 99.98 1
    ERCC4 99.92 1
    ESR2 99.96 1
    ETS1 99.99 1
    EVC 99.95 1
    EVC2 99.97 1
    EWSR1 99.94 1
    EZH2 99.89 1
    F2R 99.98 1
    FABP3 99.87 1
    FADD 99.97 1
    FANCA 100.00 1
    FANCB 99.24 1
    FANCC 99.98 1
    FANCD2 99.86 1
    FANCE 99.99 1
    FANCF 100.00 1
    FANCG 100.00 1
    FANCI 99.96 1
    FANCL 99.67 1
    FBLN1 98.69 1
    FBLN7 99.95 1
    FBN1 99.85 1
    FBN2 99.90 1
    FGF10 99.95 1
    FGF8 100.00 1
    FGFR1 100.00 1
    FGFR2 99.99 1
    FGFR3 100.00 1
    FHL2 100.00 1
    FIBP 99.83 1
    FLII 100.00 1
    FLNA 99.99 1
    FLNC 99.99 1
    FLT1 99.99 1
    FLT4 97.93 1
    FN1 99.95 1
    FOXC1 100.00 1
    FOXC2 100.00 1
    FOXH1 100.00 1
    FOXK2 99.76 1
    FOXL1 100.00 1
    FOXL2 99.97 1
    FOXO1 100.00 1
    FOXP1 99.98 1
    FSCN2 100.00 1
    G6PC3 99.98 1
    GAS8 100.00 1
    GATA2 99.99 1
    GATA4 99.99 1
    GATA5 100.00 1
    GATA6 99.90 1
    GATAD2B 99.44 1
    GDF1 100.00 1
    GDF11 99.97 1
    GDF5 100.00 1
    GDNF 99.99 1
    GJA1 100.00 1
    GJA5 100.00 1
    GJD2 99.99 1
    GLB1 100.00 1
    GLI2 99.93 1
    GLI3 100.00 1
    GPC3 99.60 1
    GPC5 99.96 1
    GPC6 99.98 1
    GRK5 99.97 1
    GTF2I 47.18 1
    GTF2IRD1 99.77 1
    HAND1 99.99 1
    HAND2 99.97 1
    HDAC8 99.74 1
    HES4 100.00 1
    HEY2 99.75 1
    HIF1A 99.87 1
    HMGB2 99.99 1
    HNF1A 100.00 1
    HNF4A 100.00 1
    HOXA1 100.00 1
    HOXB2 99.99 1
    HRAS 100.00 1
    HSPB1 99.97 1
    HSPB8 100.00 1
    HSPG2 99.87 1
    HYDIN 81.28 1
    ID2 100.00 1
    IGF1R 100.00 1
    IGFBP4 99.85 1
    IKBKB 99.93 1
    ILK 100.00 1
    INHBA 99.98 1
    INHBC 99.99 1
    INPP5D 99.98 1
    INSR 99.99 1
    IRS1 100.00 1
    IRX4 99.99 1
    ISL1 99.99 1
    ITGAV 99.40 1
    ITGB1 99.96 1
    ITGB3 99.83 1
    ITGB4 99.99 1
    JAG1 100.00 1
    JAM3 100.00 1
    JUN 100.00 1
    KANSL1 99.85 1
    KAT6A 99.93 1
    KAT6B 99.79 1
    KDM3B 99.98 1
    KDM5A 99.90 1
    KDM5B 97.15 1
    KDM6A 99.74 1
    KDR 99.86 1
    KIT 99.86 1
    KMT2D 99.98 1
    KRAS 99.13 1
    KREMEN1 99.88 1
    LAMA2 99.95 1
    LAMA5 99.99 1
    LAMC1 99.55 1
    LBR 99.66 1
    LEFTY1 99.98 1
    LEFTY2 100.00 1
    LHX3 99.99 1
    LMNA 99.96 1
    LMX1B 100.00 1
    LRP2 99.86 1
    LTBP1 99.95 1
    LTBP3 99.96 1
    LZTR1 99.46 1
    MAFG 100.00 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAPK14 99.95 1
    MCTP2 99.99 1
    MECOM 99.97 1
    MED13L 99.99 1
    MEF2C 99.57 1
    MEGF8 99.90 1
    MESP1 100.00 1
    MET 99.97 1
    METTL3 99.98 1
    MGP 99.95 1
    MID1 99.90 1
    MITF 99.98 1
    MMP2 99.96 1
    MMP21 99.99 1
    MSX1 100.00 1
    MTHFD1 100.00 1
    MTHFR 99.97 1
    MTRR 99.98 1
    MYBPC3 99.98 1
    MYC 100.00 1
    MYH10 99.91 1
    MYH11 99.16 1
    MYH6 100.00 1
    MYH7 99.99 1
    MYH9 99.95 1
    MYL2 99.99 1
    MYL3 99.99 1
    MYL7 99.95 1
    MYOCD 99.99 1
    MYOM1 99.98 1
    MYOZ2 99.99 1
    NF1 99.88 1
    NFATC1 100.00 1
    NFIX 99.99 1
    NFKB1 99.80 1
    NID2 99.97 1
    NIPBL 99.34 1
    NKX2-1 100.00 1
    NKX2-5 99.75 1
    NKX2-6 100.00 1
    NME8 99.83 1
    NNMT 100.00 1
    NODAL 99.98 1
    NONO 99.94 1
    NOS3 93.73 1
    NOTCH1 99.98 1
    NOTCH2 99.03 1
    NOTCH3 99.99 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NPPA 100.00 1
    NR2F2 100.00 1
    NR4A2 99.97 1
    NRAS 99.66 1
    NRP1 99.99 1
    NRP2 99.98 1
    NSD1 99.98 1
    ODAD1 96.04 1
    ODAD2 98.19 1
    ODAD3 99.96 1
    ODAD4 99.85 1
    OTX2 100.00 1
    PACS1 99.96 1
    PAX3 100.00 1
    PCSK5 99.97 1
    PDGFC 99.97 1
    PDGFRA 99.94 1
    PDGFRB 99.99 1
    PDHX 100.00 1
    PIGA 99.81 1
    PIGL 99.98 1
    PIGN 99.91 1
    PIGT 99.95 1
    PITX2 99.98 1
    PKD1L1 99.84 1
    PLAGL1 99.96 1
    PLAT 99.99 1
    POU5F1 100.00 1
    PPARG 99.96 1
    PPARGC1A 99.82 1
    PPP3CA 99.84 1
    PRKACA 99.95 1
    PRKD1 99.96 1
    PROX1 99.98 1
    PRRX1 99.56 1
    PSEN1 100.00 1
    PSEN2 99.97 1
    PTEN 99.89 1
    PTK2 99.97 1
    PTP4A3 99.99 1
    PTPN11 99.98 1
    PUF60 100.00 1
    RAB23 99.97 1
    RAD21 99.91 1
    RAD51C 99.02 1
    RAF1 99.97 1
    RAI1 99.22 1
    RAI2 99.98 1
    RARB 99.99 1
    RARG 99.98 1
    RB1 99.84 1
    RBBP7 99.87 1
    RBL2 99.44 1
    RBM10 99.98 1
    RBM8A 99.37 1
    RELA 99.99 1
    RERE 99.94 1
    RET 99.97 1
    RGS19 99.88 1
    RIT1 99.78 1
    RNF20 99.93 1
    ROR2 99.99 1
    RPGR 94.45 1
    RPL11 99.81 1
    RPL15 31.77 1
    RPL26 30.55 1
    RPL35A 97.55 1
    RPL5 28.81 1
    RPS10 0.00 1
    RPS17 100.00 1
    RPS19 100.00 1
    RPS24 91.48 1
    RPS26 8.99 1
    RPS28 100.00 1
    RPS29 99.96 1
    RPS7 88.50 1
    RSPH1 99.87 1
    RSPH3 99.94 1
    RSPH4A 99.95 1
    RSPH9 99.99 1
    RYR2 99.94 1
    SALL1 100.00 1
    SALL4 100.00 1
    SCN5A 100.00 1
    SESN1 99.95 1
    SF3B4 99.65 1
    SGCA 100.00 1
    SH3PXD2B 100.00 1
    SHH 100.00 1
    SHOC2 99.96 1
    HHAT 99.98 1
    SLC19A1 99.99 1
    SLC25A4 100.00 1
    SLC2A10 100.00 1
    SLX4 100.00 1
    SMAD2 99.92 1
    SMAD3 99.99 1
    SMAD4 99.97 1
    SMAD6 100.00 1
    SMARCE1 99.87 1
    SMC1A 99.98 1
    SMC3 99.91 1
    SMG9 99.99 1
    SOS1 99.68 1
    SOS2 99.39 1
    SOX2 100.00 1
    SOX4 99.36 1
    SP1 99.98 1
    SPAG1 99.78 1
    SPATC1L 99.99 1
    SPECC1L 99.98 1
    SRCAP 99.99 1
    SRF 99.99 1
    STAT3 99.97 1
    STRA6 99.95 1
    SUZ12 98.58 1
    TAB2 99.75 1
    TBX1 99.95 1
    TBX2 99.97 1
    TBX20 99.99 1
    TBX3 100.00 1
    TBX5 99.98 1
    TBX6 99.99 1
    TCAP 100.00 1
    TCF21 100.00 1
    TCF3 100.00 1
    TCN2 100.00 1
    CRIPTO 99.82 1
    TEAD1 99.97 1
    TEK 99.98 1
    TFAP2A 100.00 1
    TFAP2B 99.98 1
    TFAP2C 100.00 1
    TGFB1 100.00 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TGIF1 100.00 1
    THBS1 100.00 1
    THBS4 100.00 1
    THOC5 99.90 1
    THRB 99.82 1
    DDR2 97.39 1
    TLL1 99.94 1
    TNFRSF11A 100.00 1
    TNFRSF1A 100.00 1
    TNNI3 100.00 1
    TNNT2 99.87 1
    TNR 99.80 1
    TP53 99.98 1
    TP73 100.00 1
    TPM1 99.92 1
    TRPM2 99.99 1
    TSR2 99.96 1
    TTN 99.15 1
    TWIST1 100.00 1
    UBE2B 99.94 1
    UBE2T 99.89 1
    USP44 99.86 1
    USP9X 99.84 1
    VCAN 99.99 1
    VDR 99.86 1
    VEGFA 99.99 1
    VEGFC 99.96 1
    WASHC5 99.98 1
    WDR5 100.00 1
    WNT11 100.00 1
    WT1 99.99 1
    YY1 100.00 1
    ZEB2 99.97 1
    ZFHX3 99.96 1
    ZFPM2 100.00 1
    ZIC3 99.90 1
    ZMYND10 99.99 1
  • Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 100.00 0
    AAGAB 97.88 0
    ABCA12 100.00 0
    ABCB6 100.00 0
    ABCC6 99.97 0
    ABHD5 100.00 0
    ACD 100.00 0
    ADAM10 100.00 0
    ADAMTS2 95.82 0
    ADAR 100.00 0
    AIM1 100.00 0
    AKT1 100.00 0
    ALDH18A1 100.00 0
    ALDH3A2 99.94 0
    ALOX12B 100.00 0
    ALOXE3 100.00 0
    ANTXR1 100.00 0
    AP1S1 100.00 0
    AP3B1 100.00 0
    APCDD1 99.97 0
    AQP5 99.87 0
    ARHGAP31 100.00 0
    ARSL 99.95 0
    ASAH1 100.00 0
    ATM 100.00 0
    ATP2A2 100.00 0
    ATP2C1 100.00 0
    ATP6V0A2 99.98 0
    ATP6V1A 100.00 0
    ATP6V1E1 99.99 0
    ATP7A 100.00 0
    AXIN2 100.00 0
    B3GALT6 63.11 0
    B4GALT7 90.91 0
    BANF1 97.55 0
    BCS1L 100.00 0
    BLM 100.00 0
    BLOC1S3 95.69 0
    BLOC1S6 100.00 0
    BRAF 96.86 0
    LRMDA 100.00 0
    KDF1 100.00 0
    CARD14 99.96 0
    CBL 100.00 0
    CBS 99.92 0
    CD151 99.99 0
    CDH3 100.00 0
    CDK4 100.00 0
    CDKN1B 100.00 0
    CDKN2A 99.69 0
    CDSN 99.93 0
    CERS3 100.00 0
    CHST14 99.81 0
    CHST8 100.00 0
    CHUK 99.59 0
    CLCF1 100.00 0
    CLDN1 100.00 0
    CLDN10 100.00 0
    COG6 100.00 0
    COL11A1 100.00 0
    COL12A1 100.00 0
    COL17A1 100.00 0
    COL1A1 100.00 0
    COL1A2 99.41 0
    COL3A1 99.99 0
    COL5A1 98.23 0
    COL5A2 100.00 0
    COL7A1 100.00 0
    CREBBP 99.98 0
    CRLF1 89.67 0
    CSTA 100.00 0
    CTC1 99.71 0
    CTSC 100.00 0
    CYLD 100.00 0
    CYP26C1 97.30 0
    CYP4F22 99.27 0
    DDB2 100.00 0
    DIP2B 99.71 0
    DKC1 99.92 0
    DLL4 100.00 0
    DLX3 99.95 0
    DNMT1 99.69 0
    DOCK6 99.13 0
    DOLK 100.00 0
    DSC3 98.96 0
    DSE 100.00 0
    DSG1 100.00 0
    DSG2 99.89 0
    DSG4 100.00 0
    DSP 100.00 0
    DST 100.00 0
    DTNBP1 99.96 0
    GLB1 100.00 0
    ECM1 100.00 0
    EDA 99.05 0
    EDAR 100.00 0
    EDARADD 100.00 0
    EDN3 99.95 0
    EDNRB 100.00 0
    EFEMP2 100.00 0
    ELN 99.96 0
    ELOVL4 100.00 0
    ENPP1 97.25 0
    EOGT 100.00 0
    EP300 100.00 0
    EPG5 99.99 0
    ERCC2 99.35 0
    ERCC3 100.00 0
    ERCC4 99.99 0
    ERCC5 100.00 0
    ERCC6 100.00 0
    ERCC8 100.00 0
    EVC 94.53 0
    EVC2 98.69 0
    EXPH5 100.00 0
    F12 99.81 0
    FAM111B 100.00 0
    RETREG1 93.87 0
    FAM83G 100.00 0
    FBLN5 100.00 0
    FBN1 100.00 0
    FBN2 100.00 0
    FERMT1 99.96 0
    FGFR2 100.00 0
    FGFR3 99.36 0
    FH 100.00 0
    FKBP14 100.00 0
    FLCN 100.00 0
    FGFR1 100.00 0
    FLG2 100.00 0
    FOXN1 100.00 0
    FZD6 100.00 0
    GALNT3 100.00 0
    GAN 98.95 0
    GBA1 100.00 0
    GGCX 99.91 0
    GHR 99.21 0
    GJA1 100.00 0
    GJB2 100.00 0
    GJB3 100.00 0
    GJB4 100.00 0
    GJB6 100.00 0
    GLA 100.00 0
    GNAS 100.00 0
    GORAB 100.00 0
    GPR143 89.17 0
    GRHL2 100.00 0
    GSN 97.95 0
    GTF2E2 100.00 0
    GTF2H5 100.00 0
    HAMP 100.00 0
    HCCS 100.00 0
    HDAC8 99.82 0
    HFE 100.00 0
    HJV 100.00 0
    HGD 100.00 0
    HLCS 100.00 0
    HOXC13 96.56 0
    HPGD 99.87 0
    HPS1 100.00 0
    HPS3 99.99 0
    HPS4 99.99 0
    HPS5 100.00 0
    HPS6 96.32 0
    HR 99.78 0
    HRAS 100.00 0
    IFT122 99.99 0
    IFT43 100.00 0
    ELP1 100.00 0
    IKBKG 96.27 0
    IL31RA 100.00 0
    INSR 96.81 0
    ITGA3 99.99 0
    ITGA6 100.00 0
    ITGB4 98.77 0
    JUP 100.00 0
    KANK2 99.99 0
    KCNH1 100.00 0
    KCTD1 100.00 0
    KDM6A 99.63 0
    KDSR 99.98 0
    KIF1A 99.07 0
    KIT 99.98 0
    KITLG 100.00 0
    KL 96.52 0
    KLHL24 100.00 0
    KLLN 100.00 0
    KMT2D 99.99 0
    KRAS 100.00 0
    KREMEN1 92.10 0
    KRT1 99.80 0
    KRT10 99.93 0
    KRT14 100.00 0
    KRT16 99.48 0
    KRT17 92.10 0
    KRT2 100.00 0
    KRT5 100.00 0
    KRT6A 100.00 0
    KRT6B 100.00 0
    KRT6C 99.44 0
    KRT71 99.95 0
    KRT74 99.99 0
    KRT81 100.00 0
    KRT83 99.99 0
    KRT85 99.27 0
    KRT86 99.98 0
    KRT9 100.00 0
    LAMA4 99.75 0
    LAMB3 100.00 0
    LAMC2 99.43 0
    LEMD3 99.97 0
    LIPH 100.00 0
    LIPN 100.00 0
    LMNA 99.52 0
    LMX1B 99.55 0
    LORICRIN 100.00 0
    LPAR6 100.00 0
    LRP1 100.00 0
    LTBP4 99.49 0
    LYST 100.00 0
    LZTR1 99.92 0
    MAP2K1 100.00 0
    MAP2K2 99.99 0
    MAPRE2 100.00 0
    MBTPS2 100.00 0
    MC1R 100.00 0
    MEN1 99.83 0
    MITF 100.00 0
    MLH1 99.99 0
    MLPH 100.00 0
    MMP1 99.99 0
    MMP2 99.93 0
    MPDU1 100.00 0
    MPLKIP 100.00 0
    MSH2 100.00 0
    MSH6 99.92 0
    MSMO1 100.00 0
    MSX1 99.53 0
    MUTYH 100.00 0
    MYO5A 99.78 0
    NF1 98.85 0
    NF2 99.97 0
    NFKBIA 99.97 0
    NGF 100.00 0
    NHP2 100.00 0
    NIPAL4 100.00 0
    NIPBL 99.62 0
    RMRP 100.00 0
    NOP10 100.00 0
    NOTCH1 98.81 0
    NRAS 100.00 0
    NSDHL 100.00 0
    NTRK1 98.91 0
    OCA2 99.73 0
    OFD1 97.68 0
    ORAI1 93.55 0
    OSMR 100.00 0
    PADI3 100.00 0
    PARN 100.00 0
    PAX3 100.00 0
    PDGFRB 100.00 0
    PEX7 96.12 0
    PHYH 99.87 0
    PIGL 100.00 0
    PIK3CA 100.00 0
    PKP1 100.00 0
    PLCD1 99.74 0
    PLEC 99.33 0
    PLOD1 98.77 0
    PLOD3 99.97 0
    PMS2 98.83 0
    PNPLA1 99.66 0
    POFUT1 99.99 0
    POGLUT1 100.00 0
    POLD1 99.84 0
    POLH 100.00 0
    NT5C3A 100.00 0
    PORCN 99.13 0
    PPP1CB 100.00 0
    PRDM12 83.27 0
    PRDM5 100.00 0
    PRKAR1A 100.00 0
    PRKD1 97.12 0
    PSAT1 99.73 0
    PSENEN 100.00 0
    PTCH1 99.03 0
    PTCH2 100.00 0
    PTDSS1 100.00 0
    PTEN 99.64 0
    PTPN11 94.81 0
    NECTIN1 99.68 0
    NECTIN4 99.41 0
    PYCR1 100.00 0
    RAB27A 100.00 0
    RAD21 100.00 0
    RAF1 100.00 0
    RASA2 99.74 0
    RBPJ 99.69 0
    RECQL4 96.90 0
    RET 96.88 0
    RHBDF2 100.00 0
    RIN2 100.00 0
    RIPK4 99.98 0
    RIT1 100.00 0
    RNF113A 100.00 0
    RPL21 84.30 0
    RRAS 98.63 0
    RSPO1 100.00 0
    RTEL1 100.00 0
    SASH1 99.88 0
    SCN11A 99.99 0
    SCN9A 99.99 0
    SDHB 99.35 0
    SDHD 99.95 0
    SEC23B 100.00 0
    SERPINB7 100.00 0
    SERPINB8 100.00 0
    SERPING1 97.68 0
    SETBP1 100.00 0
    SGPL1 100.00 0
    SHOC2 100.00 0
    HHAT 93.18 0
    SKIC2 100.00 0
    SLC24A5 100.00 0
    SLC27A4 99.97 0
    SLC29A3 95.73 0
    SLC2A10 97.06 0
    SLC39A13 100.00 0
    SLC39A4 100.00 0
    SLC45A2 100.00 0
    SLC6A19 99.99 0
    SLURP1 100.00 0
    SMAD3 100.00 0
    SMARCAD1 99.97 0
    SMARCB1 100.00 0
    SMC3 100.00 0
    SMPD1 100.00 0
    SNAI2 100.00 0
    SNAP29 100.00 0
    SNRPE 99.04 0
    SOS1 100.00 0
    SOS2 99.97 0
    SOX10 97.31 0
    SPINK5 100.00 0
    SPRED1 100.00 0
    SPRY1 100.00 0
    SPTLC1 99.44 0
    SRD5A3 98.97 0
    ST14 99.95 0
    STK11 99.81 0
    STS 99.94 0
    SUFU 100.00 0
    SULT2B1 100.00 0
    SUMF1 100.00 0
    TAT 100.00 0
    TCHH 100.00 0
    TERT 93.51 0
    TFR2 100.00 0
    TGFB2 99.97 0
    TGFB3 100.00 0
    TGFBR1 91.97 0
    TGFBR2 100.00 0
    TGM1 100.00 0
    TGM3 100.00 0
    TGM5 100.00 0
    TINF2 99.96 0
    TMC6 99.87 0
    TNXB 100.00 0
    TP63 100.00 0
    TRPS1 100.00 0
    TRPV3 99.99 0
    TSC1 100.00 0
    TSC2 99.99 0
    SKIC3 99.99 0
    TUBB 100.00 0
    TWIST2 99.15 0
    TYR 100.00 0
    TYRP1 100.00 0
    UBR1 100.00 0
    USB1 100.00 0
    UVSSA 100.00 0
    VPS33B 100.00 0
    WDR19 100.00 0
    WDR35 100.00 0
    WNK1 100.00 0
    WNT10A 94.15 0
    WRAP53 100.00 0
    WRN 100.00 0
    XPA 97.89 0
    XPC 100.00 0
    ZMPSTE24 100.00 0
    ZNF469 99.97 0
    ZNF750 100.00 0
    TERC 100.00 0 t
  • 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
  • Epilepsy, seizures (196 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ACTB 100.00 1 NM_001101.5
    ADSL 100.00 1 NM_000026.4
    AKT3 100.00 1 NM_005465.7
    ALDH7A1 100.00 1 NM_001182.5
    ALG13 98.77 1 NM_001099922.3
    ANKRD11 99.99 1 NM_013275.6
    ARHGEF9 100.00 1 NM_001353921.2
    ARID1B 98.38 1 NM_001374828.1
    ARX 96.96 1 NM_139058.3
    ASXL3 100.00 1 NM_030632.3
    ATN1 100.00 1 NM_001940.4
    ATP1A2 100.00 1 NM_000702.4
    ATP1A3 100.00 1 NM_152296.5
    ATP7A 100.00 1 NM_000052.7
    ATRX 100.00 1 NM_000489.5
    ATXN2 100.00 1 NM_001372574.1
    BRAT1 100.00 1 NM_152743.4
    BTD 100.00 1 NM_001370658.1
    CACNA1A 100.00 1 NM_023035.3
    CACNA1D 100.00 1 NM_001128840.3
    CACNA1E 100.00 1 NM_001205293.3
    CACNA2D2 100.00 1 NM_001174051.3
    CAD 100.00 1 NM_004341.5
    CAMK2A 100.00 1 NM_015981.4
    CAMK2B 100.00 1 NM_001220.5
    CASK 100.00 1 NM_003688.3
    CDKL5 100.00 1 NM_001323289.2
    CERT1 100.00 1 NM_001130105.1
    CHD2 100.00 1 NM_001271.4
    CHRNA2 100.00 1 NM_000742.4
    CHRNA4 100.00 1 NM_000744.6
    CHRNB2 100.00 1 NM_000748.3
    CLN3 100.00 1 NM_001042432.2
    CLN5 100.00 1 NM_006493.4
    CLN6 100.00 1 NM_017882.3
    CLTC 100.00 1 NM_004859.4
    CNTNAP2 100.00 1 NM_014141.6
    COL4A1 100.00 1 NM_001845.6
    CSNK2B 100.00 1 NM_001320.7
    CSTB 100.00 1 NM_000100.4
    CTSA 100.00 1 NM_000308.4
    CTSD 100.00 1 NM_001909.5
    CTSF 100.00 1 NM_003793.4
    CUL4B 100.00 1 NM_001079872.2
    CYFIP2 100.00 1 NM_001037333.3
    DCX 100.00 1 NM_001195553.2
    DDC 100.00 1 NM_001082971.2
    DDX3X 100.00 1 NM_001356.4
    DEAF1 100.00 1 NM_021008.4
    DEPDC5 100.00 1 NM_001242896.3
    DHDDS 100.00 1 NM_205861.3
    DNAJC5 100.00 1 NM_025219.3
    DNM1 100.00 1 NM_004408.4
    DOCK7 100.00 1 NM_001367561.1
    DYNC1H1 100.00 1 NM_001376.5
    DYRK1A 100.00 1 NM_001347721.2
    EEF1A2 100.00 1 NM_001958.5
    EHMT1 100.00 1 NM_024757.5
    EPM2A 100.00 1 NM_005670.4
    FGF12 100.00 1 NM_021032.4
    FLNA 100.00 1 NM_001110556.2
    FMR1 100.00 1 NM_002024.6
    FOLR1 100.00 1 NM_016729.3
    FOXG1 99.86 1 NM_005249.5
    FOXP1 100.00 1 NM_032682.6
    GABBR2 100.00 1 NM_005458.8
    GABRA1 100.00 1 NM_001127644.2
    GABRA2 100.00 1 NM_001330690.1
    GABRA3 100.00 1 NM_000808.4
    GABRA5 100.00 1 NM_000810.4
    GABRB1 100.00 1 NM_000812.4
    GABRB2 100.00 1 NM_001371727.1
    GABRB3 100.00 1 NM_000814.6
    GABRD 100.00 1 NM_000815.5
    GABRG2 92.05 1 NM_198903.2
    GAD1 100.00 1 NM_000817.3
    GAD2 100.00 1 NM_001134366.2
    GAMT 100.00 1 NM_000156.6
    GATM 100.00 1 NM_001482.3
    GBA1 98.97 1 NM_000157.4
    GLDC 100.00 1 NM_000170.3
    GLI3 100.00 1 NM_000168.6
    GNAO1 100.00 1 NM_020988.3
    GNB1 100.00 1 NM_002074.5
    GOSR2 100.00 1 NM_004287.5
    GPAA1 100.00 1 NM_003801.4
    GRIA3 100.00 1 NM_007325.5
    GRIN1 100.00 1 NM_007327.4
    GRIN2A 100.00 1 NM_001134407.3
    GRIN2B 100.00 1 XM_011520629.2
    GRIN2D 100.00 1 NM_000836.2
    H3-3A 100.00 1 NM_002107.7
    H3-3B 100.00 1 NM_005324.5
    HECW2 100.00 1 NM_001348768.2
    HIVEP2 100.00 1 NM_006734.4
    HLCS 100.00 1 NM_000411.8
    HNRNPU 100.00 1 NM_031844.3
    HUWE1 100.00 1 NM_031407.7
    IQSEC2 99.37 1 NM_001111125.3
    JMJD1C 100.00 1 NM_032776.3
    KANSL1 100.00 1 NM_001193466.2
    KCNA1 100.00 1 NM_000217.3
    KCNA2 100.00 1 NM_004974.4
    KCNB1 100.00 1 NM_004975.4
    KCNC1 100.00 1 NM_001112741.2
    KCNH1 100.00 1 NM_172362.3
    KCNJ10 100.00 1 NM_002241.5
    KCNK4 100.00 1 NM_033310.3
    KCNQ2 100.00 1 NM_172107.4
    KCNQ3 100.00 1 NM_004519.4
    KCNT1 100.00 1 NM_020822.3
    KCNT2 100.00 1 NM_198503.5
    KCTD7 100.00 1 NM_153033.4
    KDM5C 100.00 1 NM_004187.5
    KDM6A 100.00 1 NM_001291415.2
    KIF1A 100.00 1 NM_001244008.1
    KMT2D 100.00 1 NM_003482.3
    KMT2E 100.00 1 NM_182931.3
    KPTN 100.00 1 NM_007059.4
    LGI1 100.00 1 NM_005097.4
    LRP1 100.00 1 NM_002332.3
    MAGI2 100.00 1 NM_012301.4
    MBD5 100.00 1 NM_018328.4
    MECP2 100.00 1 NM_001110792.2+NM_004992.3
    MED12 100.00 1 NM_005120.3
    MED13L 100.00 1 NM_015335.4
    MEF2C 100.00 1 NM_002397.5
    MFSD8 100.00 1 NM_001371596.2
    MICAL1 100.00 1 NM_022765.4
    MID1 100.00 1 NM_000381.4
    MOCS1 100.00 1 NM_001358530.2
    MTHFR 100.00 1 NM_005957.5
    MTOR 100.00 1 NM_004958.4
    NEDD4L 100.00 1 NM_001144967.3
    NEU1 100.00 1 NM_000434.4
    NEXMIF 100.00 1 NM_001008537.3
    NF1 100.00 1 NM_001042492.3
    NFIA 99.78 1 NM_001134673.4
    NHLRC1 100.00 1 NM_198586.3
    NLGN3 100.00 1 NM_181303.2
    NPRL2 100.00 1 NM_006545.5
    NPRL3 100.00 1 NM_001077350.3
    NRXN1 100.00 1 NM_001330078.2
    NTRK2 100.00 1 XM_017014751.2
    NUS1 100.00 1 NM_138459.5
    OPHN1 100.00 1 NM_002547.3
    PACS1 100.00 1 NM_018026.4
    PACS2 100.00 1 NM_001100913.3
    PAFAH1B1 100.00 1 NM_000430.4
    PANK2 100.00 1 NM_153638.3
    PCDH19 100.00 1 NM_001184880.2
    PHGDH 100.00 1 NM_006623.4
    PIGA 100.00 1 NM_002641.3
    PIGO 100.00 1 NM_032634.4
    PIGQ 100.00 1 NM_004204.5
    PIGS 100.00 1 NM_033198.4
    PIGT 100.00 1 NM_015937.6
    PIGU 100.00 1 NM_080476.4
    PIGV 100.00 1 NM_017837.4
    PIK3CA 100.00 1 NM_006218.4
    PIK3R2 100.00 1 NM_005027.4
    PLCB1 100.00 1 NM_015192.4
    PLPBP 100.00 1 NM_007198.4
    PLXNA1 100.00 1 NM_032242.3
    PNKP 100.00 1 NM_007254.4
    PNPO 100.00 1 NM_018129.4
    POLG 100.00 1 NM_001126131.2
    PPP2R1A 100.00 1 NM_014225.6
    PPP2R5D 100.00 1 NM_006245.4
    PPT1 100.00 1 NM_000310.4
    PRICKLE1 100.00 1 NM_153026.3
    PRIMA1 100.00 1 NM_178013.4
    PRRT2 100.00 1 NM_145239.3
    PSAT1 100.00 1 NM_058179.4
    PTEN 100.00 1 NM_000314.8
    PURA 100.00 1 NM_005859.5
    QARS1 100.00 1 NM_005051.3
    RELN 100.00 1 NM_005045.4
    RLIM 100.00 1 NM_016120.4
    SCAF4 100.00 1 NM_020706.2
    SCARB2 100.00 1 NM_005506.4
    SCN1A 100.00 1 NM_001165963.3
    SCN1B 100.00 1 NM_001037.5+NM_199037.5
    SCN2A 100.00 1 NM_001040142.2
    SCN3A 100.00 1 NM_006922.4
    SCN8A 100.00 1 NM_001330260.2
    SCN9A 100.00 1 NM_001365536.1
    SERPINI1 100.00 1 NM_001122752.1
    SETBP1 99.99 1 NM_015559.3
    SETD5 100.00 1 NM_001080517.3
    SLC12A5 100.00 1 NM_020708.5
    SLC19A3 100.00 1 NM_025243.4
    SLC1A2 100.00 1 NM_004171.4
    SLC25A22 100.00 1 NM_001191061.2
    SLC2A1 100.00 1 NM_006516.3
    SLC35A2 100.00 1 NM_005660.3
    SLC6A1 100.00 1 NM_003042.4
    SLC6A11 100.00 1 NM_014229.3
    SLC6A8 100.00 1 NM_005629.4
    SLC9A6 100.00 1 NM_001042537.1
    SMARCA2 100.00 1 NM_003070.5
    SMC1A 100.00 1 NM_006306.4
    SMS 100.00 1 NM_004595.5
    SNAP25 100.00 1 NM_130811.4
    SPTAN1 100.00 1 NM_001130438.3
    ST3GAL3 100.00 1 NM_006279.5
    STX1B 100.00 1 NM_052874.5
    STXBP1 100.00 1 NM_001032221.6
    SYN1 100.00 1 NM_006950.3
    SYNGAP1 100.00 1 NM_006772.3
    SZT2 100.00 1 NM_001365999.1
    TBC1D24 100.00 1 NM_001199107.2
    TBL1XR1 100.00 1 NM_024665.7
    TCF4 100.00 1 NM_001083962.2
    TNK2 100.00 1 XM_005269270.3
    TPP1 100.00 1 NM_000391.4
    TRPM6 100.00 1 NM_017662.5
    TRRAP 100.00 1 NM_001244580.1
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    TUBA1A 100.00 1 NM_006009.4
    TWNK 100.00 1 NM_021830.5
    UBE3A 100.00 1 NM_130839.5
    UGP2 100.00 1 NM_006759.3
    WASF1 100.00 1 NM_003931.3
    WDR45 100.00 1 NM_001029896.2
    WWOX 100.00 1 NM_016373.4
    ZEB2 100.00 1 NM_014795.4
  • Growth retardation/short stature (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 98.48 1
    ALPL 99.97 1
    ANKRD11 100.00 1
    ARCN1 99.91 1
    ARID1A 98.84 1
    ARID1B 97.80 1
    ARID2 99.96 1
    BMP2 99.97 1
    BRAF 98.17 1
    BTK 99.34 1
    CBL 99.89 1
    CCDC8 100.00 1
    CDC45 100.00 1
    CDC6 99.94 1
    CDKN1C 97.19 1
    CDT1 94.33 1
    CREBBP 99.91 1
    CUL7 100.00 1
    DHCR7 100.00 1
    DVL1 100.00 1
    EP300 99.96 1
    FGD1 98.85 1
    FGFR3 99.67 1
    FLNA 99.89 1
    GH1 100.00 1
    GHR 99.78 1
    GHRHR 99.79 1
    GHSR 99.99 1
    GMNN 99.70 1
    HESX1 99.81 1
    HMGA2 72.70 1
    HRAS 100.00 1
    IGF1 99.96 1
    IGF1R 99.98 1
    IGF2 100.00 1
    IGFALS 100.00 1
    IHH 99.93 1
    KDM6A 98.95 1
    KMT2A 99.18 1
    KMT2D 99.98 1
    KRAS 99.92 1
    LZTR1 99.99 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAPK1 99.56 1
    MRAS 100.00 1
    NBAS 99.97 1
    NPR2 99.97 1
    NRAS 99.45 1
    OBSL1 99.32 1
    ORC1 99.96 1
    ORC4 99.90 1
    ORC6 99.91 1
    PAPPA2 99.91 1
    PIK3R1 99.80 1
    PLAG1 99.90 1
    POC1A 99.98 1
    POU1F1 99.92 1
    PPP1CB 99.99 1
    PTPN11 99.91 1
    RAF1 99.96 1
    RASA2 99.59 1
    RIT1 99.96 1
    RNPC3 99.76 1
    ROR2 99.24 1
    RRAS2 99.60 1
    SHOC2 99.81 1
    SHOX 94.81 1
    SMARCA4 99.98 1
    SMARCB1 100.00 1
    SOS1 99.81 1
    SOS2 99.70 1
    SOX3 97.93 1
    SPRED2 99.96 1
    SRCAP 99.97 1
    STAT5B 99.94 1
    TOP3A 99.95 1
    TRIM37 99.81 1
    WNT5A 99.96 1
    YY1 99.63 1
  • Intellectual disability & Epilepsy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 99.88 1
    AARS1 99.99 1
    AASS 99.61 1
    ABAT 99.98 1
    ABCA2 100.00 1
    ABCC8 99.98 1
    ABCC9 99.92 1
    ABCD1 99.98 1
    ABCD4 100.00 1
    ABHD16A 100.00 1
    ABHD5 99.98 1
    ACAD9 100.00 1
    ACADM 96.14 1
    ACADS 99.99 1
    ACADSB 99.93 1
    ACAT1 99.81 1
    ACO2 99.99 1
    ACOX1 99.98 1
    ACSF3 99.99 1
    ACSL4 99.59 1
    ACTB 100.00 1
    ACTG1 100.00 1
    ACTL6A 99.74 1
    ACTL6B 99.90 1
    ACVR1 99.94 1
    ACY1 100.00 1
    ADAM22 99.15 1
    ADAR 99.84 1
    ADARB1 94.29 1
    ADAT3 100.00 1
    ADD3 99.95 1
    ADGRG1 99.90 1
    ADGRL1 99.98 1
    ADGRL2 98.18 1
    ADK 99.78 1
    ADNP 100.00 1
    ADPRS 99.94 1
    ADSL 99.93 1
    AFF2 99.89 1
    AFF3 99.63 1
    AFF4 99.94 1
    AFG3L2 99.97 1
    AGA 99.92 1
    AGO1 99.73 1
    AGO2 99.97 1
    AGPAT2 100.00 1
    AGTPBP1 99.68 1
    AHCY 100.00 1
    AHDC1 100.00 1
    AHI1 99.86 1
    AIFM1 99.92 1
    AIMP1 99.97 1
    AIMP2 99.99 1
    AK1 100.00 1
    AKT3 99.81 1
    ALDH18A1 99.96 1
    ALDH3A2 99.95 1
    ALDH4A1 98.97 1
    ALDH5A1 96.19 1
    ALDH7A1 99.49 1
    ALG1 86.66 1
    ALG11 99.99 1
    ALG12 100.00 1
    ALG13 99.44 1
    ALG14 99.34 1
    ALG2 100.00 1
    ALG3 99.96 1
    ALG6 93.37 1
    ALG8 95.49 1
    ALG9 99.73 1
    ALKBH8 99.98 1
    ALMS1 99.90 1
    ALPL 99.88 1
    ALX1 97.99 1
    ALX4 100.00 1
    AMACR 100.00 1
    AMER1 100.00 1
    AMMECR1 99.87 1
    AMPD2 99.91 1
    AMT 100.00 1
    ANK2 99.98 1
    ANK3 99.79 1
    ANKLE2 99.99 1
    ANKRD11 99.85 1
    ANKRD17 99.92 1
    ANO10 99.93 1
    ANTXR1 99.83 1
    AP1G1 99.95 1
    AP1S1 99.49 1
    AP1S2 99.56 1
    AP2M1 99.69 1
    AP3B1 99.89 1
    AP3B2 100.00 1
    AP3D1 100.00 1
    AP4B1 96.92 1
    AP4E1 99.94 1
    AP4M1 99.98 1
    AP4S1 87.89 1
    AP5Z1 100.00 1
    APC2 99.98 1
    APTX 99.92 1
    ARCN1 99.92 1
    ARF1 99.99 1
    ARFGEF1 99.86 1
    ARFGEF2 99.99 1
    ARG1 99.95 1
    ARHGAP31 100.00 1
    ARHGEF9 99.89 1
    ARID1A 99.83 1
    ARID1B 99.69 1
    ARID2 99.48 1
    ARL13B 99.53 1
    ARL6 99.90 1
    ARMC9 99.77 1
    ARSA 99.99 1
    ARSL 99.93 1
    ARV1 99.85 1
    ARX 95.36 1
    ASAH1 99.90 1
    ASH1L 99.79 1
    ASL 99.98 1
    ASNS 99.63 1
    ASPA 99.98 1
    ASPM 99.57 1
    ASS1 77.52 1
    ASXL1 100.00 1
    ASXL2 99.82 1
    ASXL3 99.99 1
    ATAD1 99.85 1
    ATAD3A 99.62 1
    ATCAY 100.00 1
    ATG7 99.90 1
    ATIC 99.86 1
    ATL1 99.95 1
    ATM 99.83 1
    ATN1 99.90 1
    ATP13A2 99.96 1
    ATP1A1 98.41 1
    ATP1A2 99.85 1
    ATP1A3 99.98 1
    ATP2A2 99.98 1
    ATP2B1 99.39 1
    ATP6AP2 99.55 1
    ATP6V0A1 99.85 1
    ATP6V0A2 99.92 1
    ATP6V1A 99.73 1
    ATP6V1B2 99.99 1
    ATP7A 99.87 1
    ATP8A2 100.00 1
    ATP9A 99.99 1
    ATPAF2 99.96 1
    ATRX 99.44 1
    ATXN2 99.88 1
    AUH 99.95 1
    AUTS2 99.87 1
    AVPR2 100.00 1
    B3GALNT2 92.79 1
    B3GALT6 100.00 1
    B3GLCT 99.90 1
    B4GALNT1 99.97 1
    B4GALT1 99.97 1
    B4GALT7 99.99 1
    B4GAT1 100.00 1
    B9D1 99.80 1
    B9D2 99.88 1
    BAZ2B 99.63 1
    BBS1 100.00 1
    BBS10 99.98 1
    BBS12 100.00 1
    BBS2 99.90 1
    BBS4 99.88 1
    BBS5 99.00 1
    BBS7 99.42 1
    BBS9 99.75 1
    BCAP31 99.95 1
    BCAS3 99.31 1
    BCKDHA 99.97 1
    BCKDHB 99.73 1
    BCKDK 99.99 1
    BCL11A 99.93 1
    BCL11B 100.00 1
    BCOR 99.97 1
    BCORL1 99.99 1
    BCS1L 99.99 1
    BICD2 99.99 1
    BICRA 99.99 1
    BLM 99.80 1
    BLOC1S1 99.95 1
    BMP4 100.00 1
    BOLA3 99.22 1
    BPTF 99.84 1
    BRAF 99.78 1
    BRAT1 100.00 1
    BRD4 99.98 1
    BRF1 100.00 1
    BRPF1 100.00 1
    BRSK2 99.98 1
    BRWD3 99.40 1
    BSCL2 99.99 1
    BTD 100.00 1
    BUB1B 100.00 1
    C12ORF4 99.93 1
    C12ORF57 100.00 1
    C2CD3 99.88 1
    CA2 99.62 1
    CA5A 99.99 1
    CA8 99.71 1
    CACNA1A 98.16 1
    CACNA1B 100.00 1
    CACNA1C 100.00 1
    CACNA1D 99.98 1
    CACNA1E 99.82 1
    CACNA1G 99.95 1
    CACNA1H 100.00 1
    CACNA1I 99.98 1
    CACNA2D1 97.12 1
    CACNA2D2 99.99 1
    CACNB4 99.20 1
    CACNG2 99.99 1
    CAD 99.86 1
    CAMK2A 99.99 1
    CAMK2B 99.92 1
    CAMK2G 99.95 1
    CAMK4 99.78 1
    CAMTA1 99.97 1
    CAPN10 99.99 1
    CAPN15 99.98 1
    CARS1 99.99 1
    CARS2 99.99 1
    CASK 98.95 1
    CBL 99.95 1
    CBS 17.79 1
    CC2D1A 99.98 1
    CC2D2A 99.95 1
    CCBE1 99.52 1
    CCDC115 99.90 1
    CCDC174 99.98 1
    CCDC22 99.91 1
    CCDC47 99.97 1
    CCDC88A 99.48 1
    CCDC88C 100.00 1
    CCM2 99.93 1
    CCND2 100.00 1
    CCNK 99.93 1
    CDC42 98.05 1
    CDC42BPB 99.99 1
    CDH11 99.94 1
    CDH15 99.98 1
    CDH2 99.84 1
    CDK10 99.98 1
    CDK13 99.83 1
    CDK19 99.26 1
    CDK5RAP2 99.97 1
    CDK6 99.47 1
    CDK8 99.81 1
    CDKL5 99.88 1
    CDKN1C 100.00 1
    CDON 99.99 1
    CELF2 99.99 1
    CELSR3 99.99 1
    CENPF 99.97 1
    CENPJ 99.92 1
    CEP104 99.99 1
    CEP120 99.90 1
    CEP135 99.82 1
    CEP152 99.93 1
    CEP290 98.10 1
    CEP41 99.99 1
    CEP55 99.92 1
    CEP57 99.92 1
    CEP63 94.73 1
    CEP83 98.68 1
    CEP85L 100.00 1
    CERS1 100.00 1
    CERT1 99.66 1
    CHAMP1 99.99 1
    CHD1 99.46 1
    CHD2 99.97 1
    CHD3 99.06 1
    CHD4 99.99 1
    CHD5 99.97 1
    CHD7 99.99 1
    CHD8 99.96 1
    CHKB 100.00 1
    CHMP1A 100.00 1
    CHRNA2 99.98 1
    CHRNA4 100.00 1
    CHRNB2 99.99 1
    CIC 98.32 1
    CILK1 99.69 1
    CIT 99.99 1
    CKAP2L 99.54 1
    CLCN3 99.95 1
    CLCN4 99.98 1
    CLCNKB 99.98 1
    CLDN11 100.00 1
    CLDN16 99.98 1
    CLDN19 99.02 1
    CLIC2 99.82 1
    CLN3 99.92 1
    CLN5 100.00 1
    CLN6 100.00 1
    CLN8 100.00 1
    CLP1 99.98 1
    CLPB 99.97 1
    CLTC 99.56 1
    CNKSR2 99.54 1
    CNNM2 99.94 1
    CNOT1 99.83 1
    CNOT2 99.00 1
    CNOT3 99.99 1
    CNPY3 99.98 1
    CNTN2 99.95 1
    CNTNAP1 99.98 1
    CNTNAP2 99.99 1
    COA8 99.94 1
    COASY 99.98 1
    COG1 100.00 1
    COG4 99.96 1
    COG5 99.92 1
    COG6 99.86 1
    COG7 99.74 1
    COG8 100.00 1
    COL18A1 99.99 1
    COL4A1 99.99 1
    COL4A2 99.98 1
    COLEC11 100.00 1
    COPB1 99.87 1
    COPB2 99.83 1
    COQ2 99.90 1
    COQ4 100.00 1
    COQ5 99.95 1
    COQ8A 100.00 1
    COQ9 99.62 1
    COX10 99.99 1
    COX15 100.00 1
    COX6B1 100.00 1
    CYP2A6 99.99 1
    CPE 99.93 1
    CPLANE1 99.81 1
    CPLX1 100.00 1
    CYP21A2 99.91 1
    CPSF3 99.93 1
    CPT2 99.65 1
    CRADD 99.90 1
    CRB2 99.95 1
    CRBN 99.97 1
    CREBBP 99.97 1
    CRH 100.00 1
    CRLF1 99.99 1
    CRPPA 99.98 1
    CSDE1 97.17 1
    CSNK1G1 99.95 1
    CSNK2A1 99.96 1
    CSNK2B 99.65 1
    CSPP1 98.31 1
    CSTB 100.00 1
    CTBP1 99.98 1
    CTC1 100.00 1
    CTCF 99.87 1
    CTDP1 99.97 1
    CTNNA2 99.84 1
    CTNNB1 99.95 1
    CTNND1 99.92 1
    CTNND2 99.97 1
    CTSA 99.98 1
    CTSD 100.00 1
    CTSF 99.96 1
    CTU2 99.91 1
    CUBN 99.99 1
    CUL3 99.76 1
    CUL4B 99.67 1
    CUX1 99.37 1
    CUX2 99.96 1
    CWC27 99.67 1
    CWF19L1 99.91 1
    CYB5R3 99.93 1
    CYC1 99.86 1
    CYFIP2 100.00 1
    CYP27A1 100.00 1
    CYP2U1 99.99 1
    D2HGDH 100.00 1
    DAG1 100.00 1
    DARS1 98.85 1
    DARS2 98.31 1
    DBT 94.51 1
    DCAF17 99.84 1
    DCC 99.96 1
    DCHS1 100.00 1
    DCPS 99.98 1
    DCX 99.99 1
    DDB1 99.96 1
    DDC 99.67 1
    DDHD2 99.97 1
    DDX11 99.74 1
    DDX23 99.94 1
    DDX3X 99.01 1
    DDX59 99.67 1
    DDX6 99.88 1
    DEAF1 99.90 1
    DEGS1 99.99 1
    DENND5A 99.99 1
    DEPDC5 99.18 1
    DHCR24 99.93 1
    DHCR7 99.97 1
    DHDDS 98.65 1
    DHFR 98.89 1
    DHPS 93.17 1
    DHTKD1 99.95 1
    DHX16 99.98 1
    DHX30 99.96 1
    DHX37 99.98 1
    DIAPH1 99.95 1
    DIS3L2 99.90 1
    DKC1 99.59 1
    DLAT 99.65 1
    DLD 99.89 1
    DLG3 99.96 1
    DLG4 99.99 1
    DLL1 99.99 1
    DMD 99.76 1
    DMPK 99.93 1
    DMXL2 99.86 1
    DNAJC12 99.72 1
    DNAJC19 99.76 1
    DNAJC5 99.99 1
    DNM1 92.28 1
    DNM1L 99.40 1
    DNMT3A 100.00 1
    DNMT3B 99.98 1
    DOCK3 99.96 1
    DOCK6 100.00 1
    DOCK7 94.41 1
    DOCK8 99.86 1
    DOLK 100.00 1
    DONSON 99.99 1
    DPAGT1 100.00 1
    DPF2 99.99 1
    DPH1 100.00 1
    DPM1 90.68 1
    DPM2 100.00 1
    DPP6 99.99 1
    DPYD 94.53 1
    DPYS 99.99 1
    DPYSL5 99.93 1
    DSCAM 99.99 1
    DYM 99.96 1
    DYNC1H1 99.99 1
    DYNC1I2 98.97 1
    DYRK1A 99.98 1
    EARS2 99.96 1
    EBF3 99.99 1
    GLB1 100.00 1
    ECHS1 100.00 1
    EDC3 99.97 1
    EDEM3 98.38 1
    EED 93.81 1
    EEF1A2 100.00 1
    EFNB2 99.92 1
    EFTUD2 99.93 1
    EHMT1 98.38 1
    EIF2AK2 99.70 1
    EIF2AK3 97.43 1
    EIF2B1 99.98 1
    EIF2B2 99.90 1
    EIF2B3 97.26 1
    EIF2B4 99.96 1
    EIF2B5 99.98 1
    EIF2S3 99.34 1
    EIF3F 99.96 1
    EIF4A3 99.99 1
    EIF5A 100.00 1
    ELAC2 99.90 1
    ELOVL4 99.91 1
    ELP2 99.82 1
    EMC1 99.85 1
    EMC10 99.96 1
    EML1 99.99 1
    EMX2 100.00 1
    ENTPD1 99.98 1
    EP300 99.97 1
    EPB41L1 100.00 1
    EPG5 99.95 1
    EPHA7 99.97 1
    EPM2A 99.99 1
    EPRS1 99.53 1
    ERBB4 99.92 1
    ERCC1 99.96 1
    ERCC2 99.99 1
    ERCC3 99.90 1
    ERCC5 99.99 1
    ERCC6 99.60 1
    ERCC6L2 99.94 1
    ERCC8 99.79 1
    ERLIN2 99.94 1
    ESCO2 99.92 1
    ETFA 99.95 1
    ETFB 100.00 1
    ETFDH 99.82 1
    ETHE1 84.97 1
    EXOC2 99.97 1
    EXOC7 100.00 1
    EXOSC2 100.00 1
    EXOSC3 100.00 1
    EXOSC8 99.91 1
    EXOSC9 94.91 1
    EXT2 99.98 1
    EXTL3 99.99 1
    EZH2 99.89 1
    FA2H 99.98 1
    FAM111A 100.00 1
    HYCC1 99.81 1
    FAM149B1 99.69 1
    FAM20C 100.00 1
    FAM50A 99.99 1
    FANCD2 99.86 1
    FAR1 99.82 1
    FARS2 100.00 1
    FARSA 100.00 1
    FARSB 99.64 1
    FAT4 99.98 1
    FBRSL1 95.66 1
    FBXL3 99.48 1
    FBXL4 100.00 1
    FBXO11 99.53 1
    FBXO28 99.67 1
    FBXO31 99.99 1
    FBXW11 99.96 1
    FBXW7 99.90 1
    FDFT1 99.99 1
    FGD1 99.96 1
    FGF12 99.94 1
    FGF13 99.76 1
    FGF14 99.99 1
    FGFR1 100.00 1
    FGFR2 99.99 1
    FGFR3 100.00 1
    FH 99.95 1
    FIBP 99.83 1
    FIG4 99.83 1
    FKRP 100.00 1
    FKTN 99.94 1
    FLNA 99.99 1
    FLVCR1 99.91 1
    FLVCR2 100.00 1
    FMN2 99.99 1
    FMR1 99.56 1
    FOLR1 100.00 1
    FOXG1 99.91 1
    FOXP1 99.98 1
    FOXP2 99.98 1
    FOXRED1 100.00 1
    FRAS1 99.97 1
    FREM2 99.97 1
    FRMD4A 100.00 1
    FRMPD4 99.92 1
    FRRS1L 99.91 1
    FTCD 99.99 1
    FTO 99.66 1
    FTSJ1 99.95 1
    FUCA1 98.72 1
    FUT8 99.98 1
    FXYD2 100.00 1
    FZR1 99.99 1
    GABBR2 99.96 1
    GABRA1 100.00 1
    GABRA2 99.90 1
    GABRA3 99.96 1
    GABRA5 99.96 1
    GABRB1 99.97 1
    GABRB2 99.92 1
    GABRB3 99.66 1
    GABRD 99.99 1
    GABRG2 91.88 1
    GAD1 99.92 1
    GAL 99.90 1
    GALC 99.92 1
    GALE 99.90 1
    GALNT2 99.44 1
    GALT 100.00 1
    GAMT 100.00 1
    GATAD2B 99.44 1
    GATM 99.92 1
    GBA1 96.92 1
    GCDH 100.00 1
    GCH1 99.94 1
    GCK 99.99 1
    GCSH 98.75 1
    GDI1 99.99 1
    GEMIN4 100.00 1
    GEMIN5 99.96 1
    GFAP 99.99 1
    GFER 100.00 1
    GFM1 99.95 1
    GFM2 99.87 1
    GJA1 100.00 1
    GJB1 100.00 1
    GJC2 100.00 1
    GK 99.27 1
    GLDC 99.99 1
    GLI2 99.93 1
    GLI3 100.00 1
    GLIS3 99.99 1
    GLRA1 100.00 1
    GLRB 99.79 1
    GLS 99.78 1
    GLUD1 99.80 1
    GLUL 99.88 1
    GLYCTK 100.00 1
    GM2A 100.00 1
    GMNN 99.73 1
    GMPPA 99.97 1
    GMPPB 100.00 1
    GNAI1 99.70 1
    GNAO1 99.86 1
    GNAQ 99.94 1
    GNAS 100.00 1
    GNB1 100.00 1
    GNB2 99.99 1
    GNB5 99.98 1
    GNPAT 99.78 1
    GNPTAB 99.76 1
    GNPTG 100.00 1
    GNS 99.59 1
    GOSR2 98.92 1
    GOT2 99.78 1
    GPAA1 100.00 1
    GPC3 99.60 1
    GPC4 99.89 1
    GPHN 99.94 1
    GPT2 99.97 1
    GRIA2 99.99 1
    GRIA3 99.93 1
    GRIA4 99.93 1
    GRID2 99.97 1
    GRIK2 99.90 1
    GRIN1 100.00 1
    GRIN2A 100.00 1
    GRIN2B 99.99 1
    GRIN2D 99.97 1
    GRIP1 99.83 1
    GRM1 100.00 1
    GRM7 99.99 1
    GRN 100.00 1
    GSS 99.99 1
    GTF2E2 100.00 1
    GTF2H5 100.00 1
    GTPBP2 99.98 1
    GTPBP3 99.99 1
    GUSB 95.07 1
    H1-4 100.00 1
    H3-3A 35.67 1
    H3-3B 100.00 1
    H4C11 99.08 1
    H4C3 99.99 1
    H4C5 100.00 1
    H4C9 100.00 1
    HACE1 99.76 1
    HADH 99.86 1
    HADHA 99.98 1
    HAX1 100.00 1
    HCCS 99.90 1
    HCFC1 99.99 1
    HCN1 99.99 1
    HCN2 97.35 1
    HDAC4 99.98 1
    HDAC6 99.96 1
    HDAC8 99.74 1
    HECW2 99.91 1
    HEPACAM 100.00 1
    HERC1 99.92 1
    HERC2 95.66 1
    HESX1 99.77 1
    HEXA 99.99 1
    HEXB 99.91 1
    HGSNAT 99.93 1
    HIBCH 99.70 1
    HID1 99.99 1
    HIVEP2 99.99 1
    HK1 99.97 1
    HLCS 99.97 1
    HMGB1 54.18 1
    HMGCL 99.31 1
    HNMT 99.53 1
    HNRNPH1 99.98 1
    HNRNPH2 99.96 1
    HNRNPK 99.93 1
    HNRNPR 98.05 1
    HNRNPU 99.95 1
    HOXA1 100.00 1
    HPD 99.99 1
    HPDL 99.99 1
    HPRT1 97.80 1
    HRAS 100.00 1
    HS2ST1 95.79 1
    HSD17B10 99.98 1
    HSD17B4 99.71 1
    HSPA9 99.96 1
    HSPD1 83.42 1
    HTRA2 99.99 1
    HUWE1 99.88 1
    IARS1 99.89 1
    IARS2 99.77 1
    IBA57 100.00 1
    IDH2 100.00 1
    IDS 99.82 1
    IDUA 99.99 1
    IER3IP1 99.92 1
    IFIH1 99.84 1
    IFT172 99.98 1
    IFT27 100.00 1
    IGF1 100.00 1
    IGF1R 100.00 1
    IKBKG 57.34 1
    IL1RAPL1 99.77 1
    IMPA1 99.95 1
    IMPDH2 100.00 1
    INPP5E 99.85 1
    INPP5K 99.94 1
    INTS1 100.00 1
    INTS8 99.89 1
    IQSEC1 99.99 1
    IQSEC2 99.97 1
    IREB2 99.90 1
    IRF2BPL 99.21 1
    IRX5 100.00 1
    ISCA2 100.00 1
    ITGA7 99.87 1
    ITPA 99.99 1
    ITPR1 99.98 1
    IVD 100.00 1
    JAG1 100.00 1
    JAM2 91.82 1
    JAM3 100.00 1
    JARID2 99.97 1
    KANK1 99.99 1
    KANSL1 99.85 1
    KARS1 99.98 1
    KAT5 100.00 1
    KAT6A 99.93 1
    KAT6B 99.79 1
    KAT8 99.98 1
    KATNAL2 99.98 1
    KATNB1 99.99 1
    KATNIP 99.13 1
    KCNA1 100.00 1
    KCNA2 99.99 1
    KCNA4 100.00 1
    KCNB1 100.00 1
    KCNC1 100.00 1
    KCNC2 99.88 1
    KCNC3 99.98 1
    KCND2 99.90 1
    KCND3 99.98 1
    KCNH1 99.92 1
    KCNJ10 99.98 1
    KCNJ11 100.00 1
    KCNJ6 100.00 1
    KCNK4 99.99 1
    KCNK9 100.00 1
    KCNMA1 99.89 1
    KCNN2 91.25 1
    KCNN3 99.97 1
    KCNQ2 100.00 1
    KCNQ3 99.98 1
    KCNQ5 99.89 1
    KCNT1 99.98 1
    KCNT2 98.77 1
    KCTD3 99.75 1
    KCTD7 99.98 1
    KDM1A 89.42 1
    KDM3B 99.98 1
    KDM4B 99.99 1
    KDM5B 97.15 1
    KDM5C 99.98 1
    KDM6A 99.74 1
    KDM6B 99.99 1
    KIAA0586 95.75 1
    BLTP1 99.79 1
    KIDINS220 99.94 1
    KIF11 99.84 1
    KIF14 97.80 1
    KIF1A 99.96 1
    KIF21B 99.83 1
    KIF2A 99.79 1
    KIF4A 99.76 1
    KIF5A 99.91 1
    KIF5C 99.93 1
    KIF7 100.00 1
    KIFBP 99.91 1
    KLF7 99.99 1
    KLHL15 100.00 1
    KLHL7 99.95 1
    KMT2A 99.97 1
    KMT2B 99.99 1
    KMT2C 98.98 1
    KMT2D 99.98 1
    KMT2E 99.92 1
    KMT5B 99.91 1
    KNL1 98.43 1
    KPTN 99.98 1
    KRAS 99.13 1
    KRIT1 99.33 1
    L1CAM 99.98 1
    L2HGDH 99.92 1
    LAMA1 99.98 1
    LAMA2 99.95 1
    LAMB1 99.87 1
    LAMC3 99.97 1
    LAMP2 98.95 1
    LARGE1 100.00 1
    LARP7 99.63 1
    LARS1 99.87 1
    LAS1L 99.97 1
    LGI1 99.99 1
    LGI4 99.98 1
    LIAS 99.98 1
    LIG4 100.00 1
    LINGO1 100.00 1
    LINS1 99.96 1
    LIPT1 99.89 1
    LMAN2L 99.91 1
    LMBRD2 99.66 1
    LMNB1 99.73 1
    LMNB2 99.99 1
    LONP1 99.99 1
    LRP2 99.86 1
    LRPPRC 99.80 1
    LSS 99.98 1
    LYRM7 99.98 1
    LYST 99.87 1
    LZTFL1 100.00 1
    LZTR1 99.46 1
    MAB21L1 100.00 1
    MAB21L2 100.00 1
    MACF1 99.33 1
    MAF 99.73 1
    MAGEL2 99.99 1
    MAGT1 99.54 1
    MAN1B1 99.94 1
    MAN2B1 99.99 1
    MANBA 99.81 1
    MAOA 99.83 1
    MAP1B 100.00 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAPK1 99.84 1
    MAPK8IP3 100.00 1
    MAPKAPK5 99.95 1
    MAPRE2 99.96 1
    MASP1 99.99 1
    MAST1 100.00 1
    MAT1A 99.70 1
    MBD5 99.79 1
    MBOAT7 100.00 1
    MBTPS2 99.81 1
    MCCC1 99.86 1
    MCCC2 99.97 1
    MCM3AP 99.98 1
    MCOLN1 100.00 1
    MCPH1 100.00 1
    MDH2 99.54 1
    MECP2 99.95 1
    MECR 99.63 1
    MED12 99.94 1
    MED12L 99.95 1
    MED13 99.55 1
    MED13L 99.99 1
    MED17 99.82 1
    MED23 99.82 1
    MED25 99.95 1
    MED27 99.99 1
    MEF2C 99.57 1
    MEGF8 99.90 1
    MEIS2 99.97 1
    METTL23 100.00 1
    METTL5 99.75 1
    MFF 99.97 1
    MFSD2A 99.78 1
    MFSD8 99.70 1
    MGAT2 100.00 1
    MGP 99.95 1
    MICAL1 99.99 1
    MICU1 99.56 1
    MID1 99.90 1
    MINPP1 99.73 1
    MKKS 100.00 1
    MKS1 99.92 1
    MLC1 99.99 1
    MLYCD 99.95 1
    MMAA 99.95 1
    MMAB 99.99 1
    MMACHC 99.98 1
    MMADHC 99.76 1
    MMUT 99.68 1
    MN1 99.98 1
    MOCS1 99.95 1
    MOCS2 99.96 1
    MOGS 100.00 1
    MORC2 100.00 1
    MPDU1 99.97 1
    MPDZ 99.86 1
    MPLKIP 99.99 1
    MRAS 99.97 1
    MRPL3 99.94 1
    MRPS22 99.87 1
    MRPS34 100.00 1
    MSL3 99.83 1
    MSMO1 99.88 1
    MTFMT 99.98 1
    MTHFR 99.97 1
    MTHFS 100.00 1
    MTO1 90.25 1
    MTOR 99.98 1
    MTR 99.95 1
    MTRFR 99.87 1
    MTRR 99.98 1
    MVK 99.97 1
    MYCN 100.00 1
    MYO5A 99.94 1
    MYT1L 99.99 1
    NAA10 99.99 1
    NAA15 99.71 1
    NAA20 99.93 1
    NACC1 99.99 1
    NAGA 100.00 1
    NAGLU 100.00 1
    NAGS 99.99 1
    NALCN 99.97 1
    NANS 100.00 1
    NAPB 100.00 1
    NARS1 99.94 1
    NARS2 99.59 1
    NAXD 99.99 1
    NAXE 99.99 1
    NBEA 99.98 1
    NBN 99.93 1
    NCAPG2 99.97 1
    NCDN 99.99 1
    NCKAP1 99.62 1
    NCOR1 99.88 1
    NDE1 100.00 1
    NDP 99.98 1
    NDST1 100.00 1
    NDUFA1 99.93 1
    NDUFA10 99.98 1
    NDUFA11 98.22 1
    NDUFA12 99.21 1
    NDUFA2 99.95 1
    NDUFA6 99.96 1
    NDUFA8 100.00 1
    NDUFAF1 100.00 1
    NDUFAF2 99.88 1
    NDUFAF3 100.00 1
    NDUFAF4 99.95 1
    NDUFAF5 99.89 1
    NDUFAF8 99.98 1
    NDUFB3 99.60 1
    NDUFB9 100.00 1
    NDUFS1 99.79 1
    NDUFS2 99.66 1
    NDUFS3 100.00 1
    NDUFS4 99.99 1
    NDUFS6 100.00 1
    NDUFS7 99.99 1
    NDUFS8 100.00 1
    NDUFV1 99.99 1
    NDUFV2 99.98 1
    NECAP1 100.00 1
    NECTIN1 99.99 1
    NEDD4L 99.97 1
    NEMF 99.94 1
    NEU1 99.98 1
    NEUROD2 100.00 1
    NEXMIF 99.99 1
    NF1 99.88 1
    NFASC 99.94 1
    NFE2L2 99.97 1
    NFIA 97.55 1
    NFIB 99.90 1
    NFIX 99.99 1
    NFU1 99.48 1
    NGLY1 99.93 1
    NHLRC1 100.00 1
    NHS 99.96 1
    NIPBL 99.34 1
    NKAP 99.10 1
    NKX2-1 100.00 1
    NLGN3 99.98 1
    NLGN4X 99.98 1
    NLRP3 100.00 1
    NONO 99.94 1
    NOVA2 99.95 1
    NPC1 99.99 1
    NPC2 100.00 1
    NPHP1 99.05 1
    NPRL2 100.00 1
    NPRL3 99.99 1
    NR2F1 99.99 1
    NR4A2 99.97 1
    NRAS 99.66 1
    NRROS 100.00 1
    NRXN1 99.98 1
    NSD1 99.98 1
    NSD2 99.87 1
    NSDHL 99.87 1
    NSUN2 99.96 1
    NT5C2 99.96 1
    NTNG2 99.98 1
    NTRK1 99.86 1
    NTRK2 99.90 1
    NUBPL 99.62 1
    NUDT2 100.00 1
    NUP107 97.46 1
    NUP188 99.88 1
    NUP214 99.98 1
    NUP62 100.00 1
    NUS1 99.90 1
    OAT 90.17 1
    OCLN 82.91 1
    OCRL 99.89 1
    ODC1 99.99 1
    OFD1 99.68 1
    OGT 99.79 1
    OPHN1 99.92 1
    SLC25A15 100.00 1
    OSGEP 100.00 1
    OTC 99.42 1
    OTUD5 99.93 1
    OTUD6B 99.92 1
    OTX2 100.00 1
    OXR1 99.96 1
    P4HTM 100.00 1
    PABPC1 99.84 1
    PACS1 99.96 1
    PACS2 99.99 1
    PAFAH1B1 99.96 1
    PAH 99.96 1
    PAK1 99.99 1
    PAK3 92.53 1
    PANK2 99.99 1
    PARN 99.75 1
    PARP6 99.97 1
    PARS2 99.99 1
    PAX1 100.00 1
    PAX6 99.95 1
    PAX8 99.99 1
    PBX1 99.88 1
    PODXL 99.99 1
    PCCA 99.90 1
    PCCB 99.97 1
    PCDH12 100.00 1
    PCDH19 99.98 1
    PCDHGC4 100.00 1
    PCGF2 99.78 1
    PCLO 99.41 1
    PCNT 99.97 1
    PCYT2 100.00 1
    PDCD10 99.94 1
    PDE2A 99.95 1
    PDE4D 99.89 1
    PDE6D 99.94 1
    PDGFRB 99.99 1
    PDHA1 99.04 1
    PDHB 99.94 1
    PDHX 100.00 1
    PDP1 100.00 1
    PDSS1 95.70 1
    PDSS2 99.87 1
    PEPD 99.98 1
    PET100 99.98 1
    PEX1 98.80 1
    PEX10 100.00 1
    PEX11B 99.62 1
    PEX12 100.00 1
    PEX13 99.36 1
    PEX14 100.00 1
    PEX16 99.94 1
    PEX19 99.25 1
    PEX2 100.00 1
    PEX26 100.00 1
    PEX3 99.85 1
    PEX5 99.89 1
    PEX6 99.99 1
    PEX7 99.72 1
    PGAP1 99.56 1
    PGAP2 99.99 1
    PGAP3 99.97 1
    PGK1 99.93 1
    PGM2L1 99.82 1
    PGM3 99.94 1
    PHACTR1 100.00 1
    PHF21A 99.91 1
    PHF6 99.16 1
    PHF8 99.87 1
    PHGDH 99.79 1
    PHIP 99.63 1
    PI4KA 99.76 1
    PIBF1 99.90 1
    PIDD1 100.00 1
    PIGA 99.81 1
    PIGB 99.92 1
    PIGC 100.00 1
    PIGF 98.59 1
    PIGG 99.99 1
    PIGH 100.00 1
    PIGK 92.56 1
    PIGL 99.98 1
    PIGN 99.91 1
    PIGO 99.99 1
    PIGP 99.87 1
    PIGQ 99.99 1
    PIGS 100.00 1
    PIGT 99.95 1
    PIGU 99.98 1
    PIGV 100.00 1
    PIGW 99.87 1
    PIGY 99.99 1
    PIK3C2B 99.79 1
    PIK3CA 99.74 1
    PIK3R2 99.95 1
    PISD 100.00 1
    PITRM1 99.89 1
    PLA2G6 99.98 1
    PLAA 99.79 1
    PLCB1 99.98 1
    PLCH1 99.99 1
    PLK4 99.89 1
    PLP1 99.98 1
    PLPBP 99.99 1
    PLXNA1 100.00 1
    PLXND1 99.98 1
    PMM2 99.93 1
    PMPCA 99.99 1
    PMPCB 99.94 1
    PNKP 100.00 1
    PNP 100.00 1
    PNPLA6 99.99 1
    PNPO 99.90 1
    PNPT1 99.56 1
    POC1A 99.98 1
    POC1B 100.00 1
    POGZ 99.49 1
    POLA1 99.57 1
    POLG 100.00 1
    POLR1C 100.00 1
    POLR2A 99.95 1
    POLR3A 99.97 1
    POLR3B 99.94 1
    POMGNT1 99.69 1
    POMGNT2 100.00 1
    POMK 100.00 1
    POMT1 99.96 1
    POMT2 99.98 1
    PORCN 99.93 1
    POU1F1 99.98 1
    POU3F3 99.96 1
    PPFIBP1 99.11 1
    PPIL1 100.00 1
    PPM1D 99.81 1
    PPP1CB 99.89 1
    PPP1R12A 99.08 1
    PPP1R15B 99.92 1
    PPP1R21 99.92 1
    PPP2CA 99.99 1
    PPP2R1A 100.00 1
    PPP2R5D 99.99 1
    PPP3CA 99.84 1
    PPT1 97.48 1
    PQBP1 99.99 1
    PRDM13 99.99 1
    PRDM15 99.99 1
    PRF1 100.00 1
    PRICKLE1 99.87 1
    PRICKLE2 99.98 1
    PRIMA1 99.98 1
    PRKACB 87.33 1
    PRKAR1A 100.00 1
    PRKAR1B 100.00 1
    PRMT7 99.95 1
    PRODH 4.29 1
    PRPS1 99.95 1
    PRR12 100.00 1
    PRRT2 99.97 1
    PRSS12 99.98 1
    PRUNE1 99.85 1
    PSAP 99.94 1
    PSAT1 99.98 1
    PSMD12 99.95 1
    PSPH 99.09 1
    PTCH1 99.99 1
    PTCHD1 99.97 1
    PTDSS1 99.95 1
    PTEN 99.89 1
    PTPN11 99.98 1
    PTPN23 100.00 1
    PTPN4 98.20 1
    PTRH2 99.99 1
    PTRHD1 100.00 1
    PTS 99.93 1
    PUF60 100.00 1
    PUM1 98.14 1
    PURA 100.00 1
    PUS1 100.00 1
    PUS3 100.00 1
    PUS7 99.89 1
    PYCR1 99.99 1
    PYCR2 99.95 1
    QARS1 100.00 1
    QDPR 99.92 1
    QRICH1 100.00 1
    RAB11B 100.00 1
    RAB18 99.76 1
    RAB23 99.97 1
    RAB27A 99.94 1
    RAB39B 99.99 1
    RAB3GAP1 99.73 1
    RAB3GAP2 99.69 1
    RABGAP1 99.99 1
    RAC1 99.75 1
    NCOA3 100.00 1
    RAD21 99.91 1
    RAF1 99.97 1
    RAI1 98.56 1
    RALA 99.69 1
    RALGAPA1 99.73 1
    RARB 99.99 1
    RARS2 99.88 1
    RBBP8 99.91 1
    RBFOX1 99.95 1
    RBM10 99.98 1
    RBM28 99.99 1
    RBPJ 99.96 1
    RCBTB1 99.99 1
    RELN 99.98 1
    RERE 99.94 1
    RFT1 99.79 1
    RFX3 99.95 1
    RFX4 99.95 1
    RFX7 99.99 1
    RHEB 99.97 1
    RHOBTB2 100.00 1
    RIMS2 99.97 1
    RIT1 99.78 1
    RLIM 99.93 1
    RMND1 99.92 1
    RNASEH2A 99.95 1
    RNASEH2B 99.94 1
    RNASEH2C 99.99 1
    RNASET2 99.99 1
    RNF113A 99.99 1
    RNF125 99.98 1
    RNF13 99.81 1
    RNF220 99.68 1
    RNPC3 88.90 1
    RNU4ATAC 99.95 1
    RNU7-1 33.90 1
    ROGDI 99.98 1
    RORA 99.97 1
    RORB 99.86 1
    RPGRIP1L 96.35 1
    RPIA 99.84 1
    RPL15 84.91 1
    RPS19 100.00 1
    RPS6KA3 98.93 1
    RRAS2 99.94 1
    RRM2B 99.97 1
    RSPRY1 99.73 1
    RSRC1 99.95 1
    RTEL1 100.00 1
    RTN4IP1 99.98 1
    RTTN 99.93 1
    RUBCN 100.00 1
    RUSC2 99.99 1
    RXYLT1 99.48 1
    SALL1 100.00 1
    SAMD9 99.93 1
    SAMHD1 99.98 1
    SARS1 98.53 1
    SATB1 100.00 1
    SATB2 99.96 1
    SBDS 99.93 1
    SBF1 99.99 1
    SC5D 99.97 1
    SCAF4 99.91 1
    SCAMP5 99.99 1
    SCAPER 99.75 1
    SCARB2 99.99 1
    SCN1A 99.94 1
    SCN1B 99.98 1
    SCN2A 99.86 1
    SCN3A 99.76 1
    SCN8A 99.77 1
    SCO1 99.98 1
    SCO2 100.00 1
    SCYL1 100.00 1
    SDCCAG8 100.00 1
    SDHA 99.98 1
    SDHAF1 99.99 1
    SEMA3E 99.13 1
    SEMA6B 99.98 1
    SEPSECS 99.78 1
    SERAC1 99.90 1
    SERPINI1 99.98 1
    SET 78.28 1
    SETBP1 100.00 1
    SETD1A 99.99 1
    SETD1B 99.99 1
    SETD2 99.91 1
    SETD5 99.99 1
    SFXN4 99.97 1
    SGPL1 99.95 1
    SGSH 100.00 1
    SHANK1 99.99 1
    SHANK2 99.97 1
    SHANK3 98.45 1
    SHH 100.00 1
    SHMT2 99.92 1
    SHOC2 99.96 1
    SHROOM4 99.78 1
    SIAH1 100.00 1
    SIK1 3.83 1
    SIL1 99.95 1
    SIN3A 99.97 1
    SIN3B 99.98 1
    SIX3 100.00 1
    HHAT 99.98 1
    SLC12A2 99.55 1
    SLC12A5 99.99 1
    SLC12A6 99.98 1
    SLC13A5 99.99 1
    SLC16A1 99.26 1
    SLC16A2 99.97 1
    SLC17A5 99.71 1
    SLC19A3 99.95 1
    SLC1A1 99.98 1
    SLC1A2 99.95 1
    SLC1A4 99.97 1
    SLC25A1 99.93 1
    SLC25A12 99.72 1
    SLC25A19 99.99 1
    SLC25A20 100.00 1
    SLC25A22 100.00 1
    SLC25A42 99.99 1
    SLC2A1 99.93 1
    SLC33A1 99.67 1
    SLC35A1 99.81 1
    SLC35A2 99.97 1
    SLC35A3 94.67 1
    SLC35C1 100.00 1
    SLC39A14 92.87 1
    SLC39A8 99.95 1
    SLC46A1 100.00 1
    SLC4A4 99.97 1
    SLC5A6 100.00 1
    SLC6A1 99.96 1
    SLC6A17 99.79 1
    SLC6A19 99.99 1
    SLC6A3 99.96 1
    SLC6A8 99.99 1
    SLC6A9 99.93 1
    SLC7A7 99.99 1
    SLC9A6 99.42 1
    SLC9A7 99.91 1
    SMAD4 99.97 1
    SMAD6 100.00 1
    SMARCA2 99.95 1
    SMARCA4 99.99 1
    SMARCA5 99.81 1
    SMARCB1 99.99 1
    SMARCC2 99.73 1
    SMARCD1 99.81 1
    SMARCE1 99.87 1
    SMC1A 99.98 1
    SMC3 99.91 1
    SMG8 99.92 1
    SMG9 99.99 1
    SMOC1 100.00 1
    SMPD1 100.00 1
    SMPD4 99.90 1
    SNAP25 99.89 1
    SNAP29 99.85 1
    SNIP1 99.96 1
    SNORD118 100.00 1
    SNRPN 99.97 1
    SNX14 99.73 1
    SNX27 99.59 1
    SOBP 99.99 1
    SON 99.95 1
    SOS1 99.68 1
    SOS2 99.39 1
    SOX10 100.00 1
    SOX11 100.00 1
    SOX2 100.00 1
    SOX3 100.00 1
    SOX4 99.36 1
    SOX5 99.96 1
    SOX6 99.89 1
    SPART 99.98 1
    SPAST 99.77 1
    AFG2A 99.82 1
    SPATA5L1 99.91 1
    SPECC1L 99.98 1
    SPEN 99.98 1
    SPG11 99.89 1
    SPOP 99.85 1
    SPR 99.99 1
    SPRED1 99.99 1
    SPTAN1 99.96 1
    SPTBN1 99.98 1
    SPTBN2 99.98 1
    SPTBN4 99.91 1
    SRCAP 99.99 1
    SRD5A3 99.94 1
    SRPX2 99.95 1
    SRRM2 99.98 1
    SSR4 99.99 1
    ST3GAL3 99.98 1
    ST3GAL5 99.96 1
    STAG1 99.88 1
    STAG2 99.08 1
    STAMBP 99.95 1
    STEEP1 99.89 1
    STIL 99.11 1
    STRA6 99.95 1
    STRADA 99.98 1
    STT3A 99.99 1
    STT3B 99.96 1
    STX1B 99.97 1
    STXBP1 99.99 1
    SUCLA2 99.96 1
    SUCLG1 99.64 1
    SUFU 100.00 1
    SUMF1 99.95 1
    SUOX 100.00 1
    SUPT16H 99.97 1
    SURF1 100.00 1
    SUZ12 98.58 1
    SVBP 99.04 1
    SYN1 99.98 1
    SYNCRIP 99.93 1
    SYNE1 99.95 1
    SYNGAP1 99.96 1
    SYNJ1 99.91 1
    SYP 99.99 1
    SYT1 99.70 1
    SYT14 99.94 1
    SZT2 99.88 1
    TAF1 99.84 1
    TAF13 95.71 1
    TAF1C 100.00 1
    TAF2 99.72 1
    TAF6 99.96 1
    TAFAZZIN 99.98 1
    TANC2 99.85 1
    TANGO2 99.85 1
    TAOK1 99.77 1
    TASP1 99.86 1
    TAT 99.99 1
    TBC1D20 100.00 1
    TBC1D23 98.70 1
    TBC1D24 100.00 1
    TBC1D2B 99.94 1
    TBC1D7 99.90 1
    TBCD 100.00 1
    TBCE 99.91 1
    TBCK 99.75 1
    TBL1XR1 99.92 1
    TBP 99.98 1
    TBR1 99.99 1
    TBX1 99.95 1
    TCF20 100.00 1
    TCF4 98.56 1
    TCF7L2 99.69 1
    TCN2 100.00 1
    TCTN1 99.92 1
    TCTN2 99.99 1
    TCTN3 99.92 1
    TDP2 99.97 1
    TECPR2 99.96 1
    TECR 99.99 1
    TELO2 99.99 1
    TENM3 99.99 1
    TET3 99.95 1
    TFAP2A 100.00 1
    TFE3 99.87 1
    TGDS 99.86 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TGIF1 100.00 1
    TH 99.99 1
    THOC2 99.11 1
    THOC6 99.94 1
    THRA 100.00 1
    THRB 99.82 1
    TIAM1 99.99 1
    TIMM50 99.99 1
    TIMM8A 100.00 1
    TINF2 100.00 1
    DDR2 97.39 1
    TLK2 98.83 1
    TMCO1 99.48 1
    TMEM106B 99.92 1
    TMEM107 100.00 1
    TMEM138 100.00 1
    TMEM165 99.97 1
    TMEM216 99.98 1
    TMEM222 99.93 1
    TMEM231 88.88 1
    TMEM237 99.30 1
    TMEM240 99.99 1
    TMEM63A 99.91 1
    TMEM67 99.69 1
    TMEM70 99.99 1
    TMEM94 99.96 1
    TMLHE 77.23 1
    TMTC3 97.80 1
    TMX2 99.99 1
    TNIK 99.93 1
    TNK2 99.98 1
    TNPO2 99.99 1
    TNR 99.80 1
    TNRC6B 99.99 1
    TOE1 99.96 1
    TOGARAM1 99.93 1
    TOR1A 100.00 1
    TP53RK 81.09 1
    TP73 100.00 1
    TPI1 99.95 1
    TPK1 99.96 1
    THPO 100.00 1
    ACD 99.99 1
    TRAF7 99.97 1
    TRAIP 99.97 1
    TRAK1 99.98 1
    TRAPPC10 84.42 1
    TRAPPC11 99.93 1
    TRAPPC12 99.96 1
    TRAPPC2L 100.00 1
    TRAPPC4 100.00 1
    TRAPPC6B 99.74 1
    TRAPPC9 99.98 1
    TREX1 100.00 1
    TRIM32 100.00 1
    TRIM8 99.82 1
    TRIO 99.98 1
    TRIP12 99.62 1
    TRIP4 99.97 1
    TRIT1 99.25 1
    TRMT1 100.00 1
    TRMT10A 99.90 1
    TRMT10C 99.55 1
    TRNT1 99.97 1
    TRPM3 99.89 1
    TRPM6 99.93 1
    TRRAP 99.79 1
    TSC1 99.99 1
    TSC2 99.98 1
    TSEN15 99.57 1
    TSEN2 99.98 1
    TSEN34 100.00 1
    TSEN54 100.00 1
    TSFM 100.00 1
    TSHB 99.95 1
    TSPAN7 99.97 1
    TTC19 99.99 1
    TTC21B 99.50 1
    SKIC3 99.82 1
    TTC5 100.00 1
    TTC8 99.67 1
    TTI1 100.00 1
    TTI2 99.94 1
    TUBA1A 99.97 1
    TUBB 100.00 1
    TUBB2A 87.26 1
    TUBB2B 87.69 1
    TUBB3 100.00 1
    TUBB4A 100.00 1
    TUBG1 99.95 1
    TUBGCP2 96.54 1
    TUBGCP4 99.80 1
    TUBGCP6 100.00 1
    TUFM 100.00 1
    TUSC3 99.96 1
    TWIST1 100.00 1
    TWNK 100.00 1
    U2AF2 99.98 1
    UBA5 99.95 1
    UBE2A 99.77 1
    UBE3A 99.23 1
    UBE3B 99.99 1
    UBE4A 99.99 1
    UBR1 99.93 1
    UBR7 99.96 1
    UBTF 99.99 1
    UFC1 99.35 1
    UFM1 99.25 1
    UFSP2 99.74 1
    UGDH 99.77 1
    UGP2 99.85 1
    UMPS 99.90 1
    UNC80 98.04 1
    UPB1 100.00 1
    UPF3B 99.26 1
    UQCRQ 99.96 1
    UROC1 99.99 1
    USP18 93.05 1
    USP27X 99.99 1
    USP7 99.90 1
    USP9X 99.84 1
    VAMP1 100.00 1
    VAMP2 100.00 1
    VARS1 99.99 1
    VLDLR 99.99 1
    VPS11 99.99 1
    VPS13B 99.90 1
    VPS16 100.00 1
    VPS37A 99.96 1
    VPS41 99.92 1
    VPS4A 99.98 1
    VPS53 100.00 1
    VRK1 99.98 1
    WAC 99.76 1
    WARS2 97.72 1
    WASF1 99.86 1
    WASHC4 99.84 1
    WASHC5 99.98 1
    WDFY3 99.93 1
    WDR19 99.80 1
    WDR26 96.29 1
    WDR37 99.94 1
    WDR4 99.95 1
    WDR45 99.99 1
    WDR45B 100.00 1
    WDR5 100.00 1
    WDR62 99.96 1
    WDR73 99.92 1
    WDR81 100.00 1
    WFS1 99.99 1
    WNT1 99.97 1
    WWOX 100.00 1
    XK 99.98 1
    XPA 99.68 1
    XPNPEP3 99.99 1
    XRCC4 99.89 1
    XYLT1 99.98 1
    XYLT2 99.97 1
    YAP1 99.87 1
    YIF1B 99.80 1
    YIPF5 99.99 1
    YME1L1 99.87 1
    YWHAG 99.99 1
    YY1 100.00 1
    ZBTB11 99.97 1
    ZBTB16 100.00 1
    ZBTB18 99.41 1
    ZBTB20 100.00 1
    ZBTB24 99.99 1
    ZC3H14 99.96 1
    ZC4H2 99.98 1
    ZDHHC9 99.61 1
    ZEB2 99.97 1
    ZFHX3 99.96 1
    ZFHX4 99.99 1
    ZFYVE26 100.00 1
    ZIC1 99.99 1
    ZIC2 100.00 1
    ZMIZ1 99.92 1
    ZMYM2 99.88 1
    ZMYND11 99.99 1
    ZNF142 100.00 1
    ZNF148 99.85 1
    ZNF292 99.91 1
    ZNF335 100.00 1
    ZNF407 99.98 1
    ZNF423 98.94 1
    ZNF462 99.99 1
    ZNF526 100.00 1
    ZNF699 100.00 1
    ZNF711 99.43 1
    ZSWIM6 98.94 1
  • Intellectual disability (gene panel)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 97.92 0 No comment
    AAAS 98.73 0 No comment
    AARS1 98.82 0 No comment
    AASS 98.51 0 No comment
    ABAT 99.40 0 No comment
    ABCB11 98.30 0 No comment
    ABCB7 94.65 0 No comment
    ABCC6 99.58 0 No comment
    ABCC8 99.33 0 No comment
    ABCC9 99.05 0 No comment
    ABCD1 97.12 0 No comment
    ABCD4 98.90 0 No comment
    ABCG5 99.05 0 No comment
    ABHD12 89.63 0 No comment
    ABHD5 97.97 0 No comment
    ACAD9 99.34 0 No comment
    ACADM 97.15 0 No comment
    ACADS 99.06 0 No comment
    ACADSB 96.29 0 No comment
    ACADVL 98.55 0 No comment
    ACAN 98.12 0 No comment
    ACAT1 97.08 0 No comment
    ACBD6 99.00 0 No comment
    ACE2 97.24 0 No comment
    ACIN1 99.19 0 No comment
    ACO2 98.76 0 No comment
    ACOT9 97.29 0 No comment
    ACOX1 98.24 0 No comment
    ACP5 98.80 0 No comment
    ACSF3 99.18 0 No comment
    ACSL4 91.66 0 No comment
    ACTA2 99.56 0 No comment
    ACTB 99.87 0 No comment
    ACTG1 99.91 0 No comment
    ACTL6A 99.12 0 No comment
    ACTL6B 98.82 0 No comment
    ACVR1 99.30 0 No comment
    ACY1 99.53 0 No comment
    ADA 98.79 0 No comment
    ADAM22 97.86 0 No comment
    ADAMTS10 99.11 0 No comment
    ADAR 99.42 0 No comment
    ADARB1 93.73 0 No comment
    ADAT3 98.92 0 No comment
    COQ8A 99.33 0 No comment
    ADCY5 95.67 0 No comment
    ADD3 99.21 0 No comment
    ADK 98.15 0 No comment
    ADNP 99.77 0 No comment
    ADPRS 96.99 0 No comment
    ADRA2B 99.24 0 No comment
    ADSL 99.02 0 No comment
    AFF2 96.88 0 No comment
    AFF3 99.12 0 No comment
    AFF4 99.25 0 No comment
    AFG3L2 96.83 0 No comment
    AFP 98.35 0 No comment
    AGA 99.31 0 No comment
    AGK 99.23 0 No comment
    AGL 98.86 0 No comment
    AGMO 98.98 0 No comment
    AGO1 99.33 0 No comment
    AGPAT2 95.70 0 No comment
    AGPS 96.48 0 No comment
    AGT 99.43 0 No comment
    AGTR2 99.44 0 No comment
    AGXT 99.20 0 No comment
    AHCY 99.37 0 No comment
    AHDC1 99.43 0 No comment
    AHI1 98.72 0 No comment
    AIFM1 96.67 0 No comment
    AIMP1 96.59 0 No comment
    AIMP2 99.14 0 No comment
    AIPL1 99.50 0 No comment
    AIRE 97.18 0 No comment
    AK1 99.47 0 No comment
    AK2 98.26 0 No comment
    AKAP17A 96.52 0 No comment
    AKAP4 99.11 0 No comment
    AKAP6 99.28 0 No comment
    AKR1C2 99.87 0 No comment
    AKR1D1 99.35 0 No comment
    AKT1 99.32 0 No comment
    AKT3 97.83 0 No comment
    ALAD 99.59 0 No comment
    ALDH18A1 99.49 0 No comment
    ALDH1A3 96.21 0 No comment
    ALDH3A2 98.54 0 No comment
    ALDH4A1 98.01 0 No comment
    ALDH5A1 96.17 0 No comment
    ALDH7A1 98.33 0 No comment
    ALDOA 99.58 0 No comment
    ALDOB 99.46 0 No comment
    ALG1 99.07 0 No comment
    ALG11 99.81 0 No comment
    ALG12 99.70 0 No comment
    ALG13 91.46 0 No comment
    ALG14 98.86 0 No comment
    ALG2 99.56 0 No comment
    ALG3 98.85 0 No comment
    ALG6 98.37 0 No comment
    ALG8 99.11 0 No comment
    ALG9 98.84 0 No comment
    ALKBH8 98.86 0 No comment
    ALMS1 99.15 0 No comment
    ALPL 99.07 0 No comment
    ALS2 98.98 0 No comment
    ALX1 99.69 0 No comment
    ALX3 96.22 0 No comment
    ALX4 99.35 0 No comment
    AMER1 99.70 0 No comment
    AMPD2 99.08 0 No comment
    AMT 99.79 0 No comment
    ANK3 99.57 0 No comment
    ANKH 99.15 0 No comment
    ANKRD11 97.84 0 No comment
    ANO10 98.75 0 No comment
    ANO3 99.47 0 No comment
    ANO5 99.01 0 No comment
    ANTXR1 94.84 0 No comment
    AP1B1 99.25 0 No comment
    AP1S1 95.66 0 No comment
    AP1S2 85.55 0 No comment
    AP2M1 98.28 0 No comment
    AP3B1 98.71 0 No comment
    AP3B2 98.28 0 No comment
    AP4B1 99.39 0 No comment
    AP4E1 98.53 0 No comment
    AP4M1 99.53 0 No comment
    AP4S1 99.30 0 No comment
    AP5Z1 98.97 0 No comment
    APC2 94.47 0 No comment
    COA8 95.39 0 No comment
    APTX 98.38 0 No comment
    AQP7 99.87 0 No comment
    AR 95.56 0 No comment
    ARCN1 96.22 0 No comment
    ARFGEF2 98.65 0 No comment
    ARG1 99.07 0 No comment
    ARHGAP31 99.50 0 No comment
    ARHGAP36 98.64 0 No comment
    ARHGAP6 95.05 0 No comment
    ARHGEF2 98.52 0 No comment
    ARHGEF4 99.40 0 No comment
    ARHGEF6 94.23 0 No comment
    ARHGEF9 96.24 0 No comment
    ARID1A 97.52 0 No comment
    ARID1B 95.00 0 No comment
    ARID2 99.53 0 No comment
    ARIH1 98.86 0 No comment
    ARL13B 97.87 0 No comment
    ARL14EP 97.37 0 No comment
    ARL6 98.82 0 No comment
    ODAD2 98.89 0 No comment
    ARMC9 98.71 0 No comment
    ARSA 99.35 0 No comment
    ARSB 96.85 0 No comment
    ARSL 94.37 0 No comment
    ARSF 93.30 0 No comment
    ARV1 99.17 0 No comment
    ARX 75.98 0 No comment
    ASAH1 98.03 0 No comment
    ASB12 96.10 0 No comment
    ASCC3 98.81 0 No comment
    ASCL1 98.32 0 No comment
    ASH1L 99.56 0 No comment
    ASL 98.41 0 No comment
    ASMT 92.35 0 No comment
    ASMTL 99.94 0 No comment
    ASNS 99.40 0 No comment
    ASPA 98.77 0 No comment
    ASPH 98.90 0 No comment
    ASPM 99.12 0 No comment
    ASS1 99.61 0 No comment
    ASTN1 99.12 0 No comment
    ASXL1 99.32 0 No comment
    ASXL2 94.54 0 No comment
    ASXL3 98.97 0 No comment
    ATAD1 95.52 0 No comment
    ATAD3A 98.34 0 No comment
    ATCAY 99.48 0 No comment
    ATIC 98.97 0 No comment
    ATL1 96.64 0 No comment
    ATM 98.13 0 No comment
    ATN1 98.73 0 No comment
    ATP13A2 99.25 0 No comment
    ATP1A1 98.42 0 No comment
    ATP1A2 98.77 0 No comment
    ATP1A3 99.51 0 No comment
    ATP2A2 98.83 0 No comment
    ATP2B3 97.71 0 No comment
    ATP6AP1 96.58 0 No comment
    ATP6AP2 93.72 0 No comment
    ATP6V0A2 99.30 0 No comment
    ATP6V1A 97.97 0 No comment
    ATP6V1B1 98.05 0 No comment
    ATP6V1B2 98.55 0 No comment
    ATP7A 96.22 0 No comment
    ATP7B 99.52 0 No comment
    ATP8A2 99.53 0 No comment
    ATP8B1 98.96 0 No comment
    ATR 98.89 0 No comment
    ATRX 95.60 0 No comment
    ATXN1 99.33 0 No comment
    ATXN10 98.33 0 No comment
    ATXN2 91.35 0 No comment
    ATXN3 98.93 0 No comment
    ATXN3L 99.08 0 No comment
    ATXN7 95.21 0 No comment
    AUH 99.00 0 No comment
    AUTS2 98.29 0 No comment
    AVP 86.48 0 No comment
    AVPR2 99.55 0 No comment
    AWAT2 98.86 0 No comment
    B3GALNT2 96.88 0 No comment
    B3GALT6 74.99 0 No comment
    B3GLCT 95.44 0 No comment
    B4GALNT1 98.73 0 No comment
    B4GALT1 97.25 0 No comment
    B4GALT7 93.89 0 No comment
    B9D1 98.92 0 No comment
    BBS1 99.26 0 No comment
    BBS10 99.67 0 No comment
    BBS12 99.69 0 No comment
    BBS2 98.90 0 No comment
    BBS4 98.91 0 No comment
    BBS5 98.35 0 No comment
    BBS7 99.11 0 No comment
    BBS9 98.84 0 No comment
    BCAP31 92.90 0 No comment
    BCKDHA 99.19 0 No comment
    BCKDHB 99.14 0 No comment
    BCKDK 98.03 0 No comment
    BCL11A 99.29 0 No comment
    BCL11B 95.65 0 No comment
    BCOR 98.20 0 No comment
    BCORL1 98.79 0 No comment
    BCS1L 99.07 0 No comment
    BDP1 99.48 0 No comment
    BEAN1 99.42 0 No comment
    BFSP2 99.16 0 No comment
    BGN 97.15 0 No comment
    BHLHA9 83.99 0 No comment
    BICD2 99.34 0 No comment
    BIN1 99.27 0 No comment
    BLM 97.69 0 No comment
    BMP15 94.45 0 No comment
    BMP4 99.03 0 No comment
    BMPER 99.17 0 No comment
    BMPR1B 99.45 0 No comment
    BOLA3 98.55 0 No comment
    BPIFB6 98.75 0 No comment
    BPTF 96.21 0 No comment
    BRAF 97.62 0 No comment
    BRAT1 98.61 0 No comment
    BRCA1 99.65 0 No comment
    BRCA2 98.74 0 No comment
    BRD4 90.53 0 No comment
    BRF1 97.49 0 No comment
    BRIP1 98.87 0 No comment
    BRPF1 99.09 0 No comment
    BRSK2 97.89 0 No comment
    BRWD3 96.19 0 No comment
    BSCL2 99.32 0 No comment
    BSND 99.48 0 No comment
    BTD 99.63 0 No comment
    BTK 96.82 0 No comment
    BUB1B 98.89 0 No comment
    C12ORF4 98.72 0 No comment
    C12ORF57 99.66 0 No comment
    MTRFR 98.21 0 No comment
    CCDC32 98.00 0 No comment
    VPS35L 98.65 0 No comment
    C19ORF12 98.79 0 No comment
    C2CD3 98.92 0 No comment
    PCARE 98.64 0 No comment
    DIPK2A 99.10 0 No comment
    ODAPH 99.74 0 No comment
    CPLANE1 98.94 0 No comment
    CFAP418 98.78 0 No comment
    C9ORF72 98.10 0 No comment
    CA2 99.35 0 No comment
    CA5A 99.23 0 No comment
    CA8 99.30 0 No comment
    CACNA1A 98.14 0 No comment
    CACNA1B 96.02 0 No comment
    CACNA1C 99.14 0 No comment
    CACNA1D 99.31 0 No comment
    CACNA1E 99.29 0 No comment
    CACNA1F 97.17 0 No comment
    CACNA1G 99.06 0 No comment
    CACNA1H 98.12 0 No comment
    CACNA1S 98.76 0 No comment
    CACNA2D2 95.24 0 No comment
    CACNA2D3 98.17 0 No comment
    CACNB4 99.35 0 No comment
    CACNG2 99.57 0 No comment
    CAD 99.05 0 No comment
    CAMK2A 99.63 0 No comment
    CAMK2B 97.56 0 No comment
    CAMK2G 96.97 0 No comment
    CAMTA1 99.08 0 No comment
    CANT1 98.12 0 No comment
    CAP1 99.44 0 No comment
    CAPN10 99.27 0 No comment
    CAPRIN1 99.09 0 No comment
    CAPZA2 96.21 0 No comment
    CARS1 99.79 0 No comment
    CARS2 96.59 0 No comment
    KNL1 96.88 0 No comment
    CASK 95.86 0 No comment
    CASP2 99.05 0 No comment
    CASR 99.36 0 No comment
    CBL 98.79 0 No comment
    CBS 99.88 0 No comment
    CC2D1A 98.90 0 No comment
    CC2D2A 98.66 0 No comment
    CCBE1 98.76 0 No comment
    CCDC103 99.47 0 No comment
    ODAD1 99.10 0 No comment
    CCDC115 99.59 0 No comment
    CCDC22 97.58 0 No comment
    SVBP 99.76 0 No comment
    CCDC39 98.58 0 No comment
    CCDC40 98.68 0 No comment
    CEP83 98.29 0 No comment
    CCDC47 98.08 0 No comment
    CCDC65 99.18 0 No comment
    CCDC78 99.72 0 No comment
    CCDC8 99.54 0 No comment
    CCDC88A 98.66 0 No comment
    CCDC88C 99.06 0 No comment
    CCNA2 99.24 0 No comment
    CCNB3 99.08 0 No comment
    CCND2 98.80 0 No comment
    CCNO 99.50 0 No comment
    CCT5 98.48 0 No comment
    CD96 98.95 0 No comment
    CD99 99.96 0 No comment
    CDC42 98.38 0 No comment
    CDC42BPB 99.25 0 No comment
    CDC45 99.38 0 No comment
    CDC6 98.74 0 No comment
    CDH11 99.46 0 No comment
    CDH15 99.37 0 No comment
    CDH2 99.12 0 No comment
    CDH23 98.80 0 No comment
    CDH3 99.16 0 No comment
    CDK10 99.78 0 No comment
    CDK13 95.98 0 No comment
    CDK16 98.07 0 No comment
    CDK19 99.08 0 No comment
    CDK5R1 99.67 0 No comment
    CDK5RAP2 99.35 0 No comment
    CDK8 96.11 0 No comment
    CDKL5 93.83 0 No comment
    CDKN1C 86.67 0 No comment
    CDON 98.33 0 No comment
    CDT1 91.10 0 No comment
    CENPF 98.91 0 No comment
    CENPJ 99.50 0 No comment
    CEP104 99.17 0 No comment
    CEP135 96.95 0 No comment
    CEP152 98.51 0 No comment
    CEP290 98.38 0 No comment
    CEP41 98.54 0 No comment
    CEP55 99.06 0 No comment
    CEP57 98.39 0 No comment
    CEP63 98.63 0 No comment
    CFP 97.99 0 No comment
    CHAMP1 99.90 0 No comment
    CHD2 98.65 0 No comment
    CHD3 98.02 0 No comment
    CHD4 99.40 0 No comment
    CHD7 99.13 0 No comment
    CHD8 99.13 0 No comment
    CHKB 97.91 0 No comment
    DDX11 98.90 0 No comment
    CHM 89.56 0 No comment
    CHMP1A 98.78 0 No comment
    CHRDL1 97.84 0 No comment
    CHRNA2 99.41 0 No comment
    CHRNA4 98.72 0 No comment
    CHRNB2 99.57 0 No comment
    CHRNG 99.02 0 No comment
    CHST14 98.06 0 No comment
    CHST3 99.63 0 No comment
    CHSY1 93.60 0 No comment
    CHUK 98.09 0 No comment
    CIB2 98.54 0 No comment
    CIC 98.17 0 No comment
    CISD2 97.44 0 No comment
    CIT 99.14 0 No comment
    CKAP2L 99.24 0 No comment
    CLCN2 99.53 0 No comment
    CLCN4 98.32 0 No comment
    CLCN5 98.19 0 No comment
    CLCN7 97.43 0 No comment
    CLCNKA 99.53 0 No comment
    CLCNKB 99.55 0 No comment
    CLDN19 98.68 0 No comment
    CLIC2 95.82 0 No comment
    CLN3 99.63 0 No comment
    CLN5 98.95 0 No comment
    CLN6 94.08 0 No comment
    CLN8 99.98 0 No comment
    CLP1 99.53 0 No comment
    CLPB 98.72 0 No comment
    CLPP 98.67 0 No comment
    CLTC 98.69 0 No comment
    CMC4 96.87 0 No comment
    CNKSR1 99.49 0 No comment
    CNKSR2 95.65 0 No comment
    CNNM2 99.22 0 No comment
    CNOT1 98.98 0 No comment
    CNOT2 99.08 0 No comment
    CNOT3 98.24 0 No comment
    CNTN3 99.26 0 No comment
    CNTN4 99.15 0 No comment
    CNTNAP2 99.12 0 No comment
    COA3 99.34 0 No comment
    COA5 99.73 0 No comment
    COASY 98.90 0 No comment
    COG1 99.22 0 No comment
    COG4 99.26 0 No comment
    COG5 98.95 0 No comment
    COG6 98.53 0 No comment
    COG7 99.10 0 No comment
    COG8 99.58 0 No comment
    COL10A1 98.73 0 No comment
    COL11A1 99.16 0 No comment
    COL11A2 99.40 0 No comment
    COL18A1 98.80 0 No comment
    COL1A1 98.56 0 No comment
    COL1A2 99.53 0 No comment
    COL25A1 99.68 0 No comment
    COL2A1 99.63 0 No comment
    COL4A1 98.90 0 No comment
    COL4A2 98.81 0 No comment
    COL4A3 98.60 0 No comment
    CERT1 98.80 0 No comment
    COL4A4 99.18 0 No comment
    COL4A6 96.60 0 No comment
    COL6A1 99.30 0 No comment
    COL6A3 99.58 0 No comment
    COL9A1 99.37 0 No comment
    COL9A2 99.12 0 No comment
    COL9A3 95.16 0 No comment
    COLEC10 98.66 0 No comment
    COLEC11 99.77 0 No comment
    COMP 99.30 0 No comment
    COQ2 97.65 0 No comment
    COQ4 98.65 0 No comment
    COQ5 98.41 0 No comment
    COQ9 98.96 0 No comment
    COX10 99.59 0 No comment
    COX14 97.55 0 No comment
    COX15 99.27 0 No comment
    COX6B1 99.22 0 No comment
    COX7B 98.33 0 No comment
    CP 98.56 0 No comment
    CPA6 99.18 0 No comment
    HOMER2 98.16 0 No comment
    CPS1 99.26 0 No comment
    CPXCR1 98.61 0 No comment
    CRADD 98.71 0 No comment
    CRB1 99.41 0 No comment
    CRB2 98.33 0 No comment
    CRBN 99.00 0 No comment
    CREBBP 99.20 0 No comment
    CRLF2 96.34 0 No comment
    CRX 99.30 0 No comment
    CRYAA 99.93 0 No comment
    CRYBA1 99.47 0 No comment
    CRYBA4 99.30 0 No comment
    CRYBB1 99.71 0 No comment
    CRYBB2 99.21 0 No comment
    CRYBB3 97.71 0 No comment
    CRYGC 99.70 0 No comment
    CRYGD 99.70 0 No comment
    CSDE1 99.37 0 No comment
    CSF1R 98.97 0 No comment
    CSF2RA 88.66 0 No comment
    CSNK1G1 98.84 0 No comment
    CSNK2A1 99.27 0 No comment
    CSNK2B 99.56 0 No comment
    CSPP1 98.55 0 No comment
    CSTB 99.72 0 No comment
    CSTF2 95.94 0 No comment
    CTBP1 96.89 0 No comment
    CTC1 99.15 0 No comment
    CTCF 98.88 0 No comment
    CTDP1 96.55 0 No comment
    CCN2 97.14 0 No comment
    CTNNA2 98.80 0 No comment
    CTNNB1 99.57 0 No comment
    CTNND2 94.20 0 No comment
    CTNS 99.36 0 No comment
    CTPS2 96.99 0 No comment
    CTSA 99.45 0 No comment
    CTSD 99.18 0 No comment
    CTSF 96.71 0 No comment
    CTSK 99.73 0 No comment
    CTTNBP2 99.25 0 No comment
    CTU2 98.59 0 No comment
    CUL3 98.83 0 No comment
    CUL4B 92.06 0 No comment
    CUL7 99.50 0 No comment
    CUX1 96.61 0 No comment
    CUX2 98.80 0 No comment
    CWC27 97.65 0 No comment
    CWF19L1 98.83 0 No comment
    CFAP47 93.78 0 No comment
    STEEP1 92.87 0 No comment
    CXorf58 94.93 0 No comment
    CYB5R3 97.94 0 No comment
    CYC1 91.11 0 No comment
    CYFIP2 98.67 0 No comment
    CYP1B1 99.46 0 No comment
    CYP27A1 99.02 0 No comment
    CYP2U1 96.42 0 No comment
    CYP7B1 97.88 0 No comment
    D2HGDH 99.43 0 No comment
    DAB1 98.49 0 No comment
    DACT1 97.23 0 No comment
    DAG1 99.84 0 No comment
    DARS1 97.83 0 No comment
    DARS2 98.51 0 No comment
    DBT 98.43 0 No comment
    DCAF17 98.20 0 No comment
    DCC 99.25 0 No comment
    DCHS1 99.42 0 No comment
    DCHS2 96.72 0 No comment
    DCPS 99.51 0 No comment
    DCTN1 99.19 0 No comment
    DCX 97.69 0 No comment
    DDB2 99.44 0 No comment
    DDC 98.92 0 No comment
    DDHD1 98.96 0 No comment
    DDHD2 97.51 0 No comment
    DDOST 99.21 0 No comment
    DDR2 98.02 0 No comment
    INTS6L 94.69 0 No comment
    DDX3X 94.86 0 No comment
    DDX53 99.21 0 No comment
    RIGI 98.54 0 No comment
    DDX59 98.74 0 No comment
    DDX6 99.28 0 No comment
    DEAF1 94.52 0 No comment
    DECR1 98.30 0 No comment
    DEGS1 98.48 0 No comment
    DENND5A 98.76 0 No comment
    DEPDC5 98.88 0 No comment
    DGKH 97.01 0 No comment
    DHCR24 99.02 0 No comment
    DHCR7 99.47 0 No comment
    DHDDS 97.02 0 No comment
    DHFR 96.94 0 No comment
    DHODH 99.05 0 No comment
    DHPS 98.61 0 No comment
    DHRSX 91.20 0 No comment
    DHTKD1 98.94 0 No comment
    DHX30 98.83 0 No comment
    DIAPH1 91.23 0 No comment
    DIAPH2 87.29 0 No comment
    DIP2B 98.90 0 No comment
    DIS3L2 98.91 0 No comment
    DKC1 93.86 0 No comment
    DLAT 98.39 0 No comment
    DLD 98.88 0 No comment
    DLG1 98.14 0 No comment
    DLG2 99.29 0 No comment
    DLG3 97.25 0 No comment
    DLG4 99.13 0 No comment
    DLGAP2 99.74 0 No comment
    DLL3 86.64 0 No comment
    DLL4 99.36 0 No comment
    DMD 96.45 0 No comment
    DMP1 99.65 0 No comment
    DMPK 99.32 0 No comment
    DMXL2 98.36 0 No comment
    DNA2 98.22 0 No comment
    DNAAF3 98.65 0 No comment
    DNAJC12 99.66 0 No comment
    DNAJC19 96.91 0 No comment
    DNAJC3 96.14 0 No comment
    DNM1 97.82 0 No comment
    DNM1L 98.63 0 No comment
    DNM2 98.34 0 No comment
    DNMT1 98.21 0 No comment
    DNMT3A 99.20 0 No comment
    DNMT3B 99.29 0 No comment
    DOCK11 92.03 0 No comment
    DOCK3 98.52 0 No comment
    DOCK6 99.05 0 No comment
    DOCK7 98.51 0 No comment
    DOCK8 99.20 0 No comment
    DOLK 99.80 0 No comment
    DONSON 96.21 0 No comment
    DPAGT1 99.38 0 No comment
    DPF1 98.48 0 No comment
    DPF2 99.34 0 No comment
    DPF3 99.50 0 No comment
    DPH1 99.38 0 No comment
    DPM1 99.42 0 No comment
    DPM2 99.20 0 No comment
    DPM3 99.69 0 No comment
    DPP6 92.06 0 No comment
    DPYD 99.12 0 No comment
    DRD2 99.36 0 No comment
    DSCAM 98.89 0 No comment
    VPS26C 99.43 0 No comment
    DSPP 98.82 0 No comment
    DST 98.99 0 No comment
    DSTYK 99.35 0 No comment
    DVL1 99.68 0 No comment
    DVL3 98.80 0 No comment
    DYM 97.55 0 No comment
    DYNC1H1 99.37 0 No comment
    DYNC1I2 98.87 0 No comment
    DYNC2H1 97.67 0 No comment
    DYRK1A 99.47 0 No comment
    DNAAF4 98.09 0 No comment
    EBF3 99.40 0 No comment
    EBP 98.55 0 No comment
    ECEL1 97.04 0 No comment
    EDA 97.49 0 No comment
    EDNRA 99.24 0 No comment
    EDNRB 98.60 0 No comment
    EED 97.73 0 No comment
    EEF1A2 92.77 0 No comment
    EEF1B2 97.60 0 No comment
    EFHC1 98.17 0 No comment
    EFNB1 98.53 0 No comment
    EFTUD2 98.05 0 No comment
    EGR2 99.61 0 No comment
    EHMT1 98.17 0 No comment
    EIF2A 97.83 0 No comment
    EIF2AK1 98.91 0 No comment
    EIF2AK3 97.90 0 No comment
    EIF2S3 97.86 0 No comment
    EIF3F 99.59 0 No comment
    EIF4A3 99.56 0 No comment
    EIF4G1 99.24 0 No comment
    ELAC2 99.51 0 No comment
    ELK1 98.30 0 No comment
    ELN 99.54 0 No comment
    ELOVL4 99.51 0 No comment
    ELOVL5 98.85 0 No comment
    ELP2 99.00 0 No comment
    EMC1 99.43 0 No comment
    EMG1 99.17 0 No comment
    EML1 98.84 0 No comment
    EMX2 99.75 0 No comment
    EN2 95.92 0 No comment
    ENOX2 95.88 0 No comment
    ENPP1 95.08 0 No comment
    TEPSIN 99.67 0 No comment
    ENTPD1 97.83 0 No comment
    EOGT 90.07 0 No comment
    EOMES 99.11 0 No comment
    EP300 99.21 0 No comment
    EPB41L1 99.19 0 No comment
    EPG5 98.98 0 No comment
    EPM2A 91.75 0 No comment
    EPPK1 99.37 0 No comment
    SELENOI 98.64 0 No comment
    ERCC1 97.35 0 No comment
    ERCC2 98.26 0 No comment
    ERCC3 99.57 0 No comment
    ERCC4 99.08 0 No comment
    ERCC5 99.17 0 No comment
    ERCC6 99.25 0 No comment
    ERCC6L2 98.36 0 No comment
    ERCC8 99.23 0 No comment
    ERF 99.27 0 No comment
    ERLIN2 99.21 0 No comment
    ERMARD 99.76 0 No comment
    ESCO2 97.40 0 No comment
    ESX1 96.03 0 No comment
    ETFA 97.87 0 No comment
    ETFB 99.51 0 No comment
    ETFDH 97.92 0 No comment
    ETHE1 98.75 0 No comment
    EVC 94.14 0 No comment
    EVC2 97.83 0 No comment
    EXOSC3 98.97 0 No comment
    EXOSC8 98.32 0 No comment
    EXT1 99.14 0 No comment
    EXT2 99.43 0 No comment
    EXTL3 99.80 0 No comment
    EYA1 99.11 0 No comment
    EZH2 96.67 0 No comment
    F5 99.15 0 No comment
    FA2H 97.25 0 No comment
    FAAH2 92.70 0 No comment
    FAH 96.88 0 No comment
    OTULIN 89.08 0 No comment
    FAM111A 99.59 0 No comment
    FAM111B 99.76 0 No comment
    FAM120C 96.47 0 No comment
    HYCC1 99.23 0 No comment
    RETREG1 97.37 0 No comment
    FHIP2A 97.70 0 No comment
    FAM161A 99.42 0 No comment
    FAM20A 94.00 0 No comment
    FAM20C 96.33 0 No comment
    FAM47B 99.81 0 No comment
    CCNQ 84.67 0 No comment
    FANCA 98.47 0 No comment
    FANCB 97.15 0 No comment
    FANCC 99.30 0 No comment
    FANCD2 99.02 0 No comment
    FANCE 95.74 0 No comment
    FANCF 99.29 0 No comment
    FANCG 98.43 0 No comment
    FANCI 98.29 0 No comment
    FAR1 97.96 0 No comment
    FARS2 99.13 0 No comment
    FASN 99.66 0 No comment
    FAT4 99.73 0 No comment
    FBLN5 97.72 0 No comment
    FBN1 99.18 0 No comment
    FBN2 99.13 0 No comment
    FBP1 99.54 0 No comment
    FBXL3 98.89 0 No comment
    FBXL4 99.22 0 No comment
    FBXO11 98.18 0 No comment
    FBXO25 98.32 0 No comment
    FBXO7 99.44 0 No comment
    FBXO8 99.00 0 No comment
    FBXW11 98.85 0 No comment
    FBXW4 98.88 0 No comment
    FDFT1 96.29 0 No comment
    FDXR 99.16 0 No comment
    FEM1B 98.39 0 No comment
    FGD1 95.65 0 No comment
    FGD4 97.87 0 No comment
    FGF10 98.79 0 No comment
    FGF12 99.23 0 No comment
    FGF14 99.47 0 No comment
    FGF3 95.52 0 No comment
    FGFR1 99.06 0 No comment
    FGFR2 99.55 0 No comment
    FGFR3 98.01 0 No comment
    FH 98.88 0 No comment
    FHL1 98.74 0 No comment
    FIBP 99.40 0 No comment
    FIG4 98.99 0 No comment
    FKBP14 98.92 0 No comment
    FKBP6 99.52 0 No comment
    FKBPL 99.97 0 No comment
    FKRP 97.44 0 No comment
    FKTN 98.78 0 No comment
    FLAD1 99.48 0 No comment
    FLNA 98.47 0 No comment
    FLNB 98.87 0 No comment
    FLT4 98.94 0 No comment
    FLVCR1 98.36 0 No comment
    FLVCR2 99.65 0 No comment
    FMN2 96.08 0 No comment
    FMR1 96.13 0 No comment
    FOLR1 99.56 0 No comment
    FOXC1 91.49 0 No comment
    FOXC2 93.24 0 No comment
    FOXE1 88.43 0 No comment
    FOXE3 70.11 0 No comment
    FOXF1 98.60 0 No comment
    FOXG1 78.93 0 No comment
    FOXN1 99.64 0 No comment
    FOXP1 98.65 0 No comment
    FOXP2 98.84 0 No comment
    FOXP3 95.40 0 No comment
    FOXRED1 98.46 0 No comment
    FRAS1 98.89 0 No comment
    FREM1 99.07 0 No comment
    FREM2 99.25 0 No comment
    FRMD7 97.20 0 No comment
    FRMPD4 97.55 0 No comment
    FRRS1L 82.94 0 No comment
    FRY 99.11 0 No comment
    FTCD 98.94 0 No comment
    FTL 97.48 0 No comment
    FTO 99.41 0 No comment
    FTSJ1 98.72 0 No comment
    FUCA1 98.66 0 No comment
    FCSK 99.13 0 No comment
    FUT8 98.58 0 No comment
    FXN 96.73 0 No comment
    FYCO1 99.38 0 No comment
    FZD3 99.31 0 No comment
    FZD6 99.22 0 No comment
    G6PC3 99.48 0 No comment
    GAA 99.39 0 No comment
    GAB3 94.68 0 No comment
    GABBR2 96.86 0 No comment
    GABRA1 99.65 0 No comment
    GABRA2 99.34 0 No comment
    GABRA5 99.43 0 No comment
    GABRB2 98.99 0 No comment
    GABRB3 99.65 0 No comment
    GABRG2 91.85 0 No comment
    GABRG3 99.67 0 No comment
    GABRQ 96.87 0 No comment
    GAD1 99.31 0 No comment
    GALC 98.53 0 No comment
    GALE 98.79 0 No comment
    GALK1 99.12 0 No comment
    GALNS 98.20 0 No comment
    GALNT2 99.25 0 No comment
    GALT 99.67 0 No comment
    GAMT 98.08 0 No comment
    GAN 98.97 0 No comment
    GAS8 98.96 0 No comment
    GATA2 99.39 0 No comment
    GATA4 94.57 0 No comment
    GATA6 90.43 0 No comment
    GATAD2B 99.84 0 No comment
    GATM 99.31 0 No comment
    GBA1 99.80 0 No comment
    GBA2 99.40 0 No comment
    GBE1 98.14 0 No comment
    GCDH 99.26 0 No comment
    GCH1 98.31 0 No comment
    GCK 99.00 0 No comment
    GCSH 98.69 0 No comment
    GDAP1 99.61 0 No comment
    GDF5 98.79 0 No comment
    GDF6 95.02 0 No comment
    GDI1 96.43 0 No comment
    GEMIN4 99.84 0 No comment
    GFAP 99.47 0 No comment
    GFER 96.28 0 No comment
    GFM1 98.59 0 No comment
    GHR 98.44 0 No comment
    GIGYF2 98.79 0 No comment
    GJA1 99.86 0 No comment
    GJA3 98.78 0 No comment
    GJA8 99.16 0 No comment
    GJB1 99.27 0 No comment
    GJB2 99.76 0 No comment
    GJB3 99.85 0 No comment
    GJC2 86.86 0 No comment
    GK 95.46 0 No comment
    GLB1 99.09 0 No comment
    GLDC 98.46 0 No comment
    GLE1 99.11 0 No comment
    GLI2 98.54 0 No comment
    GLI3 99.24 0 No comment
    GLIS3 99.02 0 No comment
    GLMN 98.58 0 No comment
    GLRA1 98.32 0 No comment
    GLRA2 91.37 0 No comment
    GLUD1 97.56 0 No comment
    GLUL 99.52 0 No comment
    GLYCTK 99.68 0 No comment
    GM2A 99.64 0 No comment
    GMNN 96.21 0 No comment
    GMPPA 99.75 0 No comment
    GMPPB 98.26 0 No comment
    GNAI1 98.99 0 No comment
    GNAI2 98.07 0 No comment
    GNAI3 97.86 0 No comment
    GNAL 97.43 0 No comment
    GNAO1 98.80 0 No comment
    GNAS 99.61 0 No comment
    GNB1 98.37 0 No comment
    GNB5 99.14 0 No comment
    GNE 99.40 0 No comment
    GNPAT 96.78 0 No comment
    GNPTAB 99.40 0 No comment
    GNPTG 97.82 0 No comment
    GNS 99.15 0 No comment
    GON4L 99.53 0 No comment
    GORAB 98.74 0 No comment
    GOSR2 99.40 0 No comment
    GOT2 99.15 0 No comment
    GPAA1 99.20 0 No comment
    GPC3 95.93 0 No comment
    GPC4 97.39 0 No comment
    GPHN 99.23 0 No comment
    ADGRG4 98.24 0 No comment
    ADGRG6 98.33 0 No comment
    GPR179 99.76 0 No comment
    ADGRG1 99.61 0 No comment
    ADGRV1 98.49 0 No comment
    GPRASP1 99.60 0 No comment
    GPSM2 98.63 0 No comment
    GPT2 95.94 0 No comment
    GRB14 97.87 0 No comment
    GRHL3 98.78 0 No comment
    GRIA1 98.02 0 No comment
    GRIA2 98.58 0 No comment
    GRIA3 92.43 0 No comment
    GRIA4 98.61 0 No comment
    GRID2 99.29 0 No comment
    GRIK2 99.11 0 No comment
    GRIN1 99.26 0 No comment
    GRIN2A 99.71 0 No comment
    GRIN2B 99.64 0 No comment
    GRIN2D 78.36 0 No comment
    GRIP1 99.51 0 No comment
    GRM1 98.88 0 No comment
    GRM6 93.42 0 No comment
    GRN 99.81 0 No comment
    GSPT2 99.68 0 No comment
    GSS 99.18 0 No comment
    GSX2 99.55 0 No comment
    GTF2E2 98.84 0 No comment
    GTF2H5 98.97 0 No comment
    GTF3C3 98.70 0 No comment
    GTPBP2 98.27 0 No comment
    GTPBP3 98.65 0 No comment
    GTPBP8 98.83 0 No comment
    GUCY2C 99.16 0 No comment
    GUSB 98.83 0 No comment
    GYS2 99.38 0 No comment
    H3-3A 99.28 0 No comment
    H3-3B 99.69 0 No comment
    HACE1 98.93 0 No comment
    HADH 98.21 0 No comment
    HADHA 99.44 0 No comment
    HADHB 99.06 0 No comment
    HARS2 97.76 0 No comment
    HAUS7 95.60 0 No comment
    HAX1 99.52 0 No comment
    HCCS 97.34 0 No comment
    HCFC1 97.80 0 No comment
    HCN1 98.04 0 No comment
    HDAC4 99.39 0 No comment
    HDAC6 97.59 0 No comment
    HDAC8 97.78 0 No comment
    PUDP 97.74 0 No comment
    HECW2 98.89 0 No comment
    HEPACAM 98.19 0 No comment
    HERC1 99.17 0 No comment
    HERC2 99.81 0 No comment
    HESX1 99.33 0 No comment
    HEXA 99.52 0 No comment
    HEXB 98.68 0 No comment
    HGSNAT 93.69 0 No comment
    HIBCH 99.31 0 No comment
    HINT1 99.52 0 No comment
    H1-4 98.83 0 No comment
    H4C2 99.68 0 No comment
    H4C3 99.67 0 No comment
    H4C11 99.75 0 No comment
    H3-4 99.95 0 No comment
    HIVEP2 99.83 0 No comment
    HK1 99.43 0 No comment
    HLCS 95.35 0 No comment
    HMGB3 95.15 0 No comment
    HMGCL 99.25 0 No comment
    HMGCS2 98.52 0 No comment
    HNF1B 99.68 0 No comment
    HNF4A 99.42 0 No comment
    HNMT 99.40 0 No comment
    HNRNPH2 98.98 0 No comment
    HNRNPK 99.14 0 No comment
    HNRNPR 99.29 0 No comment
    HNRNPU 99.13 0 No comment
    HOXA1 99.10 0 No comment
    HOXA13 75.31 0 No comment
    HOXC13 98.67 0 No comment
    HOXD10 99.56 0 No comment
    HOXD13 96.00 0 No comment
    HPD 99.12 0 No comment
    HPGD 98.68 0 No comment
    HPRT1 91.01 0 No comment
    HPS1 98.99 0 No comment
    HPSE2 99.23 0 No comment
    HR 98.73 0 No comment
    HRAS 99.96 0 No comment
    HS6ST2 98.48 0 No comment
    HSD17B10 99.12 0 No comment
    HSD17B4 98.53 0 No comment
    HSD3B7 93.20 0 No comment
    HSF4 98.76 0 No comment
    HSPD1 99.48 0 No comment
    HSPG2 99.24 0 No comment
    HTRA2 98.32 0 No comment
    HTT 98.29 0 No comment
    HUWE1 96.58 0 No comment
    HYAL1 99.27 0 No comment
    HYDIN 98.89 0 No comment
    HYLS1 99.56 0 No comment
    IARS1 98.84 0 No comment
    IARS2 98.71 0 No comment
    IBA57 96.07 0 No comment
    IDH2 94.56 0 No comment
    IDS 97.02 0 No comment
    IDUA 94.91 0 No comment
    IER3IP1 98.58 0 No comment
    IFIH1 98.73 0 No comment
    IFITM5 99.18 0 No comment
    IFNAR2 99.17 0 No comment
    IFT122 98.98 0 No comment
    IFT140 99.19 0 No comment
    IFT172 99.43 0 No comment
    IFT27 99.45 0 No comment
    IFT43 99.37 0 No comment
    IFT80 98.80 0 No comment
    IGBP1 98.38 0 No comment
    IGF1 98.50 0 No comment
    IGF1R 99.32 0 No comment
    IGF2 98.94 0 No comment
    IGHMBP2 99.36 0 No comment
    IGSF1 95.84 0 No comment
    IHH 98.73 0 No comment
    IKBKG 96.16 0 No comment
    IL11RA 99.17 0 No comment
    IL1RAPL1 97.07 0 No comment
    IL1RAPL2 97.20 0 No comment
    IL3RA 99.85 0 No comment
    ILF2 99.02 0 No comment
    BPNT2 99.21 0 No comment
    INF2 94.80 0 No comment
    INPP4A 99.16 0 No comment
    INPP5E 98.98 0 No comment
    INPP5K 99.11 0 No comment
    INPPL1 98.07 0 No comment
    INSR 96.93 0 No comment
    INTS1 99.07 0 No comment
    INTS6 98.76 0 No comment
    INTS8 97.79 0 No comment
    IQSEC1 96.84 0 No comment
    IQSEC2 88.71 0 No comment
    IQSEC3 99.28 0 No comment
    IRAK1 94.66 0 No comment
    IRF2BPL 97.48 0 No comment
    IRF6 98.80 0 No comment
    IRX5 98.01 0 No comment
    ISCA2 99.85 0 No comment
    CRPPA 86.74 0 No comment
    ITCH 94.90 0 No comment
    ITGA3 99.19 0 No comment
    ITGA4 96.65 0 No comment
    ITGA7 99.02 0 No comment
    ITGB6 99.17 0 No comment
    ITIH6 96.21 0 No comment
    ITPA 99.87 0 No comment
    ITPR1 98.49 0 No comment
    IVD 99.26 0 No comment
    JAG1 99.05 0 No comment
    JAGN1 99.34 0 No comment
    JAK3 98.80 0 No comment
    JAM3 98.99 0 No comment
    KANK1 98.55 0 No comment
    KANSL1 99.38 0 No comment
    KARS1 99.19 0 No comment
    KAT5 99.33 0 No comment
    KAT6A 99.45 0 No comment
    KAT6B 99.14 0 No comment
    KAT8 96.84 0 No comment
    KATNAL2 99.21 0 No comment
    KATNB1 99.24 0 No comment
    KBTBD13 98.92 0 No comment
    KCNA1 99.84 0 No comment
    KCNA2 99.87 0 No comment
    KCNB1 99.55 0 No comment
    KCNC1 99.57 0 No comment
    KCNC3 79.69 0 No comment
    KCND1 97.45 0 No comment
    KCND3 99.47 0 No comment
    KCNE1 99.99 0 No comment
    KCNH1 99.06 0 No comment
    KCNH5 98.52 0 No comment
    KCNJ10 99.06 0 No comment
    KCNJ11 99.50 0 No comment
    KCNJ6 99.58 0 No comment
    KCNK12 94.89 0 No comment
    KCNK4 98.87 0 No comment
    KCNK9 99.78 0 No comment
    KCNMA1 98.89 0 No comment
    KCNN3 99.58 0 No comment
    KCNQ1 94.82 0 No comment
    KCNQ2 98.91 0 No comment
    KCNQ3 97.63 0 No comment
    KCNQ5 98.24 0 No comment
    KCNT1 98.83 0 No comment
    KCNT2 98.81 0 No comment
    KCTD1 99.70 0 No comment
    KCTD3 99.34 0 No comment
    KCTD7 98.45 0 No comment
    KDM1A 97.93 0 No comment
    KDM3B 98.22 0 No comment
    KDM5A 99.06 0 No comment
    KDM5B 98.98 0 No comment
    KDM5C 98.12 0 No comment
    KDM6A 95.37 0 No comment
    KDM6B 97.67 0 No comment
    TMEM94 99.37 0 No comment
    WASHC5 98.20 0 No comment
    RUBCN 99.10 0 No comment
    KIAA0586 93.75 0 No comment
    KIAA1109 98.44 0 No comment
    KIFBP 99.27 0 No comment
    RIC1 99.07 0 No comment
    LNPK 99.07 0 No comment
    NEXMIF 99.59 0 No comment
    KIDINS220 99.40 0 No comment
    KIF11 98.60 0 No comment
    KIF14 98.97 0 No comment
    KIF1A 99.09 0 No comment
    KIF1C 99.18 0 No comment
    KIF21A 98.56 0 No comment
    KIF22 98.71 0 No comment
    KIF26B 99.62 0 No comment
    KIF2A 98.32 0 No comment
    KIF4A 96.82 0 No comment
    KIF5A 97.77 0 No comment
    KIF5C 96.11 0 No comment
    KIF7 96.34 0 No comment
    KIRREL3 98.99 0 No comment
    KIT 99.30 0 No comment
    KLF1 99.27 0 No comment
    KLF7 99.57 0 No comment
    KLF8 96.17 0 No comment
    KLHL15 99.48 0 No comment
    KLHL21 97.63 0 No comment
    KLHL34 97.50 0 No comment
    KLHL4 96.56 0 No comment
    KLHL40 99.52 0 No comment
    KLHL7 99.04 0 No comment
    KMT2A 98.08 0 No comment
    KMT2B 96.01 0 No comment
    KMT2C 99.21 0 No comment
    KMT2D 99.70 0 No comment
    KMT2E 98.57 0 No comment
    KPTN 98.80 0 No comment
    KRAS 97.27 0 No comment
    KRIT1 98.55 0 No comment
    L1CAM 97.47 0 No comment
    L2HGDH 98.33 0 No comment
    LAMA1 99.36 0 No comment
    LAMA2 99.11 0 No comment
    LAMB1 99.38 0 No comment
    LAMB2 99.40 0 No comment
    LAMC3 97.47 0 No comment
    LAMP2 95.99 0 No comment
    LARGE1 99.44 0 No comment
    LARP7 97.05 0 No comment
    LARS2 99.25 0 No comment
    LAS1L 98.38 0 No comment
    LBR 99.13 0 No comment
    LDB3 95.69 0 No comment
    LEMD3 98.30 0 No comment
    P3H1 99.32 0 No comment
    LFNG 80.45 0 No comment
    LGI1 99.81 0 No comment
    LGI4 99.14 0 No comment
    LHFPL3 95.05 0 No comment
    LHX3 99.03 0 No comment
    LHX4 99.11 0 No comment
    LIAS 98.84 0 No comment
    LIG4 99.71 0 No comment
    LIMK1 99.08 0 No comment
    LINGO1 99.68 0 No comment
    LINS1 98.96 0 No comment
    LIPT1 98.07 0 No comment
    LIPT2 97.11 0 No comment
    LITAF 99.34 0 No comment
    LMAN2L 99.15 0 No comment
    LMBRD1 96.71 0 No comment
    LMNA 98.89 0 No comment
    LMX1B 99.74 0 No comment
    LONP1 99.06 0 No comment
    LOXHD1 99.14 0 No comment
    LRAT 99.56 0 No comment
    LRP1 98.97 0 No comment
    LRP2 99.08 0 No comment
    LRP4 98.69 0 No comment
    LRP5 97.97 0 No comment
    LRPPRC 98.65 0 No comment
    LRRC32 99.45 0 No comment
    DNAAF11 99.52 0 No comment
    LRRK1 99.22 0 No comment
    LRRK2 98.24 0 No comment
    LSS 99.87 0 No comment
    LTBP2 98.85 0 No comment
    LTBP3 98.16 0 No comment
    LYRM7 95.36 0 No comment
    LYST 98.97 0 No comment
    LZTFL1 98.88 0 No comment
    LZTR1 99.05 0 No comment
    MAB21L1 99.89 0 No comment
    MAB21L2 99.46 0 No comment
    MACC1 99.56 0 No comment
    MACF1 98.64 0 No comment
    MADD 98.87 0 No comment
    MAF 78.51 0 No comment
    MAFB 99.20 0 No comment
    MAGEA11 99.42 0 No comment
    MAGEB1 99.65 0 No comment
    MAGEB10 99.72 0 No comment
    MAGEB2 99.51 0 No comment
    MAGEC1 98.27 0 No comment
    MAGEC3 96.41 0 No comment
    MAGED1 97.72 0 No comment
    MAGEL2 99.77 0 No comment
    MAGI2 92.15 0 No comment
    MAGIX 91.35 0 No comment
    MAGT1 95.72 0 No comment
    MAN1B1 97.68 0 No comment
    MAN2B1 98.69 0 No comment
    MANBA 98.99 0 No comment
    MAOA 92.59 0 No comment
    MAOB 96.46 0 No comment
    MAP1B 99.62 0 No comment
    MAP2K1 98.93 0 No comment
    MAP2K2 99.30 0 No comment
    MAP3K1 93.46 0 No comment
    MAP3K15 81.00 0 No comment
    MAP3K7 98.96 0 No comment
    MAP7D3 93.50 0 No comment
    MAPK10 99.23 0 No comment
    MAPK8IP3 99.17 0 No comment
    MAPRE2 99.34 0 No comment
    MAPT 99.44 0 No comment
    MASP1 99.32 0 No comment
    MAST1 98.94 0 No comment
    MAT1A 99.31 0 No comment
    MATN3 94.73 0 No comment
    MBD5 99.80 0 No comment
    MBNL3 97.64 0 No comment
    MBOAT7 99.23 0 No comment
    MBTPS2 97.35 0 No comment
    MC2R 99.83 0 No comment
    MCCC1 99.36 0 No comment
    MCCC2 99.42 0 No comment
    MCEE 99.73 0 No comment
    MCM3AP 99.17 0 No comment
    MCM9 99.49 0 No comment
    MCOLN1 98.09 0 No comment
    MCPH1 97.71 0 No comment
    MDH2 99.26 0 No comment
    MECP2 89.64 0 No comment
    MECR 98.83 0 No comment
    MED12 97.94 0 No comment
    MED12L 98.99 0 No comment
    MED13 98.50 0 No comment
    MED13L 99.39 0 No comment
    MED17 98.61 0 No comment
    MED23 98.85 0 No comment
    MED25 97.95 0 No comment
    MEF2C 99.19 0 No comment
    MEGF10 98.25 0 No comment
    MEGF8 99.01 0 No comment
    MEIS2 99.60 0 No comment
    MESP2 98.01 0 No comment
    MET 99.32 0 No comment
    METTL23 99.70 0 No comment
    METTL5 94.29 0 No comment
    MFF 98.90 0 No comment
    MFRP 98.32 0 No comment
    MFSD2A 98.61 0 No comment
    MFSD8 99.49 0 No comment
    MGAT2 99.31 0 No comment
    MGAT5B 98.30 0 No comment
    MGP 99.47 0 No comment
    MIB1 98.13 0 No comment
    MICU1 99.39 0 No comment
    MID1 98.26 0 No comment
    MITF 99.17 0 No comment
    MKKS 99.47 0 No comment
    MKS1 98.74 0 No comment
    MLC1 98.91 0 No comment
    MLH1 98.70 0 No comment
    MLYCD 94.43 0 No comment
    MMAA 98.59 0 No comment
    MMAB 99.44 0 No comment
    MMACHC 99.23 0 No comment
    MMADHC 98.97 0 No comment
    MMP13 98.47 0 No comment
    MMP21 97.96 0 No comment
    MN1 99.12 0 No comment
    MNX1 68.62 0 No comment
    MOCS1 99.12 0 No comment
    MOCS2 99.33 0 No comment
    MOGS 98.80 0 No comment
    MORC4 92.98 0 No comment
    MPDU1 97.72 0 No comment
    MPDZ 99.06 0 No comment
    MPI 99.09 0 No comment
    MPLKIP 99.41 0 No comment
    MPV17 99.32 0 No comment
    MPZ 99.26 0 No comment
    MRAP 99.40 0 No comment
    MRE11 98.82 0 No comment
    MRPS22 99.08 0 No comment
    MRPS34 97.34 0 No comment
    MSL3 95.17 0 No comment
    MSMO1 98.59 0 No comment
    MSX1 98.22 0 No comment
    MSX2 99.75 0 No comment
    MTF1 98.69 0 No comment
    MTFMT 98.17 0 No comment
    MTHFR 97.78 0 No comment
    MTM1 96.15 0 No comment
    MTMR1 88.31 0 No comment
    MTMR14 99.36 0 No comment
    MTMR2 98.85 0 No comment
    MTMR8 95.90 0 No comment
    MTO1 93.67 0 No comment
    MTOR 98.53 0 No comment
    MTPAP 98.83 0 No comment
    MTR 99.25 0 No comment
    MTRR 99.33 0 No comment
    MTTP 99.03 0 No comment
    MMUT 98.64 0 No comment
    MVK 99.52 0 No comment
    MXRA5 98.86 0 No comment
    MYBPC1 98.08 0 No comment
    MYCN 90.97 0 No comment
    MYH10 99.14 0 No comment
    MYH3 99.61 0 No comment
    MYH6 99.58 0 No comment
    MYH8 99.84 0 No comment
    MYH9 99.50 0 No comment
    MYO1D 99.24 0 No comment
    MYO1G 98.28 0 No comment
    MYO5A 98.89 0 No comment
    MYO5B 98.83 0 No comment
    MYO7A 99.30 0 No comment
    MYT1L 99.61 0 No comment
    NAA10 97.29 0 No comment
    NAA15 96.88 0 No comment
    NACC1 99.36 0 No comment
    NADK2 90.73 0 No comment
    NAGA 99.05 0 No comment
    NAGLU 92.35 0 No comment
    NAGS 99.13 0 No comment
    NALCN 99.30 0 No comment
    NANS 99.57 0 No comment
    NBAS 99.15 0 No comment
    NBEA 98.46 0 No comment
    NBN 98.71 0 No comment
    NCAPD2 99.26 0 No comment
    NCAPG2 98.85 0 No comment
    NCAPH 96.78 0 No comment
    NCKAP1 98.92 0 No comment
    NDE1 99.73 0 No comment
    NDN 97.93 0 No comment
    NDP 98.16 0 No comment
    NDRG1 99.86 0 No comment
    NDST1 99.02 0 No comment
    NDUFA1 98.51 0 No comment
    NDUFA10 99.01 0 No comment
    NDUFA11 90.58 0 No comment
    NDUFA12 99.80 0 No comment
    NDUFA9 98.99 0 No comment
    NDUFAF1 99.39 0 No comment
    NDUFAF2 98.80 0 No comment
    NDUFAF3 99.67 0 No comment
    NDUFAF5 99.09 0 No comment
    NDUFS1 98.99 0 No comment
    NDUFS2 97.41 0 No comment
    NDUFS3 99.78 0 No comment
    NDUFS4 97.48 0 No comment
    NDUFS7 99.69 0 No comment
    NDUFS8 98.57 0 No comment
    NDUFV1 99.26 0 No comment
    NEB 99.00 0 No comment
    NECAB2 87.19 0 No comment
    NECAP1 99.07 0 No comment
    NEDD4L 98.42 0 No comment
    NEK1 98.94 0 No comment
    NEU1 99.97 0 No comment
    NF1 98.44 0 No comment
    NFASC 98.10 0 No comment
    NFIA 97.99 0 No comment
    NFIB 98.14 0 No comment
    NFIX 97.92 0 No comment
    NFU1 99.67 0 No comment
    NGF 98.59 0 No comment
    NGLY1 99.36 0 No comment
    NHEJ1 99.58 0 No comment
    NHLRC1 99.86 0 No comment
    NHP2 99.45 0 No comment
    NHS 96.49 0 No comment
    NIPA1 90.55 0 No comment
    NIPBL 98.60 0 No comment
    NKAP 96.73 0 No comment
    NKX2-1 97.75 0 No comment
    NKX2-5 99.63 0 No comment
    NKX3-2 98.37 0 No comment
    NLGN3 98.40 0 No comment
    NLGN4X 99.13 0 No comment
    NLRP3 98.99 0 No comment
    NMNAT1 97.99 0 No comment
    NODAL 99.40 0 No comment
    NOG 99.12 0 No comment
    NONO 96.77 0 No comment
    NOP56 99.35 0 No comment
    NOTCH2 99.27 0 No comment
    NOVA2 89.97 0 No comment
    NPC1 98.89 0 No comment
    NPC2 99.66 0 No comment
    NPHP1 99.51 0 No comment
    NPHP3 98.74 0 No comment
    NPHP4 99.19 0 No comment
    NPHS1 99.44 0 No comment
    NPHS2 97.80 0 No comment
    NPR2 99.34 0 No comment
    NPR3 90.56 0 No comment
    NR1I3 99.14 0 No comment
    NR2F1 90.07 0 No comment
    NR2F2 98.87 0 No comment
    NR4A2 99.44 0 No comment
    NR5A1 97.66 0 No comment
    NRAS 98.92 0 No comment
    NRK 96.60 0 No comment
    NRROS 99.89 0 No comment
    NRXN1 99.17 0 No comment
    NRXN2 95.11 0 No comment
    NRXN3 99.23 0 No comment
    NSD1 98.92 0 No comment
    NSDHL 98.64 0 No comment
    NSF 98.09 0 No comment
    NSUN2 98.86 0 No comment
    NT5C2 98.94 0 No comment
    NT5C3A 98.92 0 No comment
    NTM 98.61 0 No comment
    NTNG1 99.58 0 No comment
    NTNG2 93.49 0 No comment
    NTRK1 98.79 0 No comment
    NTRK2 99.23 0 No comment
    NUBPL 99.17 0 No comment
    NUDT2 99.10 0 No comment
    NUP107 97.33 0 No comment
    NUP188 98.99 0 No comment
    NUP62 99.65 0 No comment
    NUS1 97.85 0 No comment
    NXF5 99.08 0 No comment
    NYX 92.34 0 No comment
    OBSL1 98.23 0 No comment
    OCLN 99.53 0 No comment
    OCRL 95.55 0 No comment
    ODC1 99.36 0 No comment
    ODF2L 97.74 0 No comment
    OFD1 93.09 0 No comment
    OGT 96.02 0 No comment
    OPA3 99.11 0 No comment
    OPHN1 93.40 0 No comment
    OR5M1 99.56 0 No comment
    ORC1 98.75 0 No comment
    ORC4 98.23 0 No comment
    ORC6 98.12 0 No comment
    OSGEP 99.20 0 No comment
    OTC 94.39 0 No comment
    OTOGL 91.23 0 No comment
    OTUD6B 97.21 0 No comment
    OTUD7A 84.64 0 No comment
    OTX2 99.74 0 No comment
    OXCT1 98.14 0 No comment
    P2RY4 99.46 0 No comment
    P2RY8 99.54 0 No comment
    P4HB 99.48 0 No comment
    P4HTM 95.19 0 No comment
    PABPC5 99.77 0 No comment
    PACS1 97.81 0 No comment
    PACS2 97.16 0 No comment
    PAFAH1B1 99.12 0 No comment
    PAH 99.36 0 No comment
    PAK1 89.41 0 No comment
    PAK3 93.85 0 No comment
    PALB2 99.35 0 No comment
    PANK2 98.65 0 No comment
    PAPSS2 97.09 0 No comment
    PRKN 99.61 0 No comment
    PARK7 98.71 0 No comment
    PARN 99.92 0 No comment
    PARP1 99.23 0 No comment
    PASD1 96.99 0 No comment
    PAX2 98.63 0 No comment
    PAX3 99.47 0 No comment
    PAX6 99.12 0 No comment
    PAX7 98.68 0 No comment
    PAX8 99.37 0 No comment
    PAX9 99.60 0 No comment
    PBRM1 99.04 0 No comment
    PBX1 98.79 0 No comment
    PC 99.26 0 No comment
    PCBD1 98.19 0 No comment
    PCCA 99.09 0 No comment
    PCCB 98.35 0 No comment
    PCDH10 99.56 0 No comment
    PCDH12 99.87 0 No comment
    PCDH19 99.27 0 No comment
    PCGF2 89.24 0 No comment
    PCLO 99.20 0 No comment
    PCNT 98.96 0 No comment
    PCYT1A 99.37 0 No comment
    PCYT2 93.96 0 No comment
    PDCD10 97.57 0 No comment
    PDE10A 99.49 0 No comment
    PDE4D 97.01 0 No comment
    PDE6D 99.57 0 No comment
    PDE6G 99.28 0 No comment
    PDGFB 99.27 0 No comment
    PDGFRB 98.98 0 No comment
    PDHA1 93.13 0 No comment
    PDHX 97.66 0 No comment
    PDSS1 88.79 0 No comment
    PDSS2 98.91 0 No comment
    PDYN 97.60 0 No comment
    PECR 98.78 0 No comment
    PEPD 99.16 0 No comment
    PET100 99.52 0 No comment
    PEX1 98.65 0 No comment
    PEX10 94.24 0 No comment
    PEX11B 98.16 0 No comment
    PEX12 98.98 0 No comment
    PEX13 99.29 0 No comment
    PEX14 99.37 0 No comment
    PEX16 99.69 0 No comment
    PEX19 98.79 0 No comment
    PEX2 99.69 0 No comment
    PEX26 98.07 0 No comment
    PEX3 98.18 0 No comment
    PEX5 98.49 0 No comment
    PEX6 98.82 0 No comment
    PEX7 98.38 0 No comment
    PGAP1 97.38 0 No comment
    PGAP2 99.62 0 No comment
    PGAP3 97.87 0 No comment
    PGK1 98.42 0 No comment
    PGM1 98.11 0 No comment
    PGM3 99.56 0 No comment
    PGRMC1 98.26 0 No comment
    PHACTR1 89.43 0 No comment
    PHC1 99.13 0 No comment
    PHF10 95.41 0 No comment
    PHF21A 98.68 0 No comment
    PHF6 87.29 0 No comment
    PHF8 98.16 0 No comment
    PHGDH 99.24 0 No comment
    PHIP 98.39 0 No comment
    PHKA1 96.26 0 No comment
    PHKA2 95.35 0 No comment
    PHKG2 99.76 0 No comment
    PHOX2B 94.35 0 No comment
    PIEZO2 98.61 0 No comment
    PIGA 96.21 0 No comment
    PIGB 99.29 0 No comment
    PIGC 99.49 0 No comment
    PIGG 99.35 0 No comment
    PIGH 99.72 0 No comment
    PIGK 97.34 0 No comment
    PIGL 99.60 0 No comment
    PIGN 97.35 0 No comment
    PIGO 99.30 0 No comment
    PIGP 97.65 0 No comment
    PIGQ 99.47 0 No comment
    PIGS 99.30 0 No comment
    PIGT 99.18 0 No comment
    PIGU 96.64 0 No comment
    PIGV 99.64 0 No comment
    PIGW 99.86 0 No comment
    PIGY 98.77 0 No comment
    PIK3C2A 98.95 0 No comment
    PIK3C3 98.08 0 No comment
    PIK3CA 98.58 0 No comment
    PIK3R1 98.70 0 No comment
    PIK3R2 92.16 0 No comment
    PIN4 94.34 0 No comment
    PINK1 96.58 0 No comment
    PITRM1 99.18 0 No comment
    PITX2 98.79 0 No comment
    PITX3 99.21 0 No comment
    PJA1 99.79 0 No comment
    PKD1L1 99.32 0 No comment
    PKHD1 99.32 0 No comment
    PLA2G6 99.38 0 No comment
    PLAA 99.25 0 No comment
    PLCB1 98.83 0 No comment
    PLCE1 98.80 0 No comment
    PLCXD1 96.54 0 No comment
    PLEC 99.59 0 No comment
    PLEKHG2 99.01 0 No comment
    PLK4 98.64 0 No comment
    PLOD1 98.15 0 No comment
    PLOD2 98.29 0 No comment
    PLOD3 98.92 0 No comment
    PLP1 98.91 0 No comment
    PLXNB3 98.08 0 No comment
    PMM2 97.92 0 No comment
    PMP22 99.70 0 No comment
    PMPCA 99.22 0 No comment
    PMPCB 98.76 0 No comment
    PMS2 98.73 0 No comment
    PNKD 99.01 0 No comment
    PNKP 99.38 0 No comment
    PNP 99.48 0 No comment
    PNPLA6 99.18 0 No comment
    PNPO 98.09 0 No comment
    PNPT1 98.94 0 No comment
    POC1A 98.69 0 No comment
    POC1B 98.91 0 No comment
    POGLUT1 99.01 0 No comment
    POGZ 99.08 0 No comment
    POLA1 93.70 0 No comment
    POLD1 99.32 0 No comment
    POLG 98.98 0 No comment
    POLR1C 99.42 0 No comment
    POLR1D 94.97 0 No comment
    POLR2A 93.09 0 No comment
    POLR3A 99.17 0 No comment
    POLR3B 98.52 0 No comment
    POMGNT1 98.91 0 No comment
    POMGNT2 99.93 0 No comment
    POMT1 99.40 0 No comment
    POMT2 98.43 0 No comment
    PORCN 98.49 0 No comment
    POU1F1 99.20 0 No comment
    POU3F3 72.47 0 No comment
    PPA2 98.38 0 No comment
    PPM1D 98.90 0 No comment
    PPOX 99.10 0 No comment
    PPP1CB 99.15 0 No comment
    PPP1R15B 99.76 0 No comment
    PPP1R1B 97.58 0 No comment
    PPP1R21 97.12 0 No comment
    PPP2CA 99.22 0 No comment
    PPP2R1A 99.53 0 No comment
    PPP2R2B 99.49 0 No comment
    PPP2R5D 99.23 0 No comment
    PPP3CA 97.94 0 No comment
    PPT1 99.42 0 No comment
    PQBP1 98.03 0 No comment
    PRDM12 87.59 0 No comment
    PRDX4 76.26 0 No comment
    PREPL 99.18 0 No comment
    PRICKLE1 99.56 0 No comment
    PRICKLE2 99.38 0 No comment
    PRICKLE3 96.71 0 No comment
    PRKAR1A 99.58 0 No comment
    PRKCG 99.43 0 No comment
    PRKD1 98.77 0 No comment
    PRKRA 99.26 0 No comment
    PRMT9 98.98 0 No comment
    PRMT7 98.06 0 No comment
    PRODH 98.11 0 No comment
    PROP1 99.63 0 No comment
    PLPBP 95.56 0 No comment
    PROX2 99.44 0 No comment
    PRPS1 95.38 0 No comment
    PRR12 98.27 0 No comment
    PRRG1 94.01 0 No comment
    PRRG3 97.85 0 No comment
    PRRT2 99.50 0 No comment
    PRSS12 99.22 0 No comment
    PRSS56 98.31 0 No comment
    PRUNE1 99.16 0 No comment
    PRX 99.79 0 No comment
    PSAP 99.57 0 No comment
    PSAT1 99.42 0 No comment
    PSEN1 99.47 0 No comment
    PSMA7 92.67 0 No comment
    PSMB8 99.96 0 No comment
    PSMD10 98.66 0 No comment
    PSMD12 99.46 0 No comment
    PSPH 99.39 0 No comment
    PTCH1 98.24 0 No comment
    PTCHD1 99.55 0 No comment
    PTDSS1 99.53 0 No comment
    PTEN 97.06 0 No comment
    PTF1A 84.73 0 No comment
    PTH1R 99.36 0 No comment
    PTHLH 99.63 0 No comment
    PTPN11 98.87 0 No comment
    PTPN21 99.21 0 No comment
    PTPN23 99.40 0 No comment
    PTRH2 99.69 0 No comment
    PTRHD1 99.61 0 No comment
    PTS 97.89 0 No comment
    PUF60 99.63 0 No comment
    PUM1 98.63 0 No comment
    PURA 95.31 0 No comment
    PUS1 93.61 0 No comment
    PUS3 99.35 0 No comment
    PUS7 99.26 0 No comment
    NECTIN1 99.41 0 No comment
    PYCR1 99.44 0 No comment
    PYCR2 98.91 0 No comment
    PYGL 99.15 0 No comment
    QARS1 99.24 0 No comment
    QDPR 99.29 0 No comment
    QKI 99.00 0 No comment
    QRICH1 99.47 0 No comment
    RAB11A 99.26 0 No comment
    RAB11B 99.79 0 No comment
    RAB18 98.52 0 No comment
    RAB23 98.94 0 No comment
    RAB27A 96.61 0 No comment
    RAB39B 99.40 0 No comment
    RAB3GAP1 98.90 0 No comment
    RAB3GAP2 99.12 0 No comment
    RAB40AL 99.76 0 No comment
    RABL6 99.51 0 No comment
    RAC1 98.23 0 No comment
    NCOA3 95.06 0 No comment
    RAD21 98.41 0 No comment
    RAD50 97.32 0 No comment
    RAD51 86.56 0 No comment
    RAD51C 98.85 0 No comment
    RAF1 99.16 0 No comment
    RAI1 99.61 0 No comment
    RALA 96.03 0 No comment
    RALGAPA1 98.41 0 No comment
    RALGDS 95.93 0 No comment
    RANBP17 98.36 0 No comment
    RANBP2 99.68 0 No comment
    RAPGEF1 99.41 0 No comment
    RAPSN 99.04 0 No comment
    RARB 99.38 0 No comment
    RARS1 97.45 0 No comment
    RARS2 99.01 0 No comment
    RASA1 97.27 0 No comment
    RAX 93.04 0 No comment
    RBBP8 97.45 0 No comment
    RBFOX1 97.68 0 No comment
    RBL2 98.08 0 No comment
    RBM10 97.07 0 No comment
    RBM28 99.52 0 No comment
    RBM8A 99.76 0 No comment
    RBPJ 99.63 0 No comment
    RECQL4 98.44 0 No comment
    REEP1 98.11 0 No comment
    REEP2 98.01 0 No comment
    RELN 99.14 0 No comment
    RENBP 93.79 0 No comment
    RERE 97.47 0 No comment
    RET 98.30 0 No comment
    RFT1 97.40 0 No comment
    RFX6 98.63 0 No comment
    RTL9 99.02 0 No comment
    RGN 96.72 0 No comment
    RGS7 99.42 0 No comment
    RHEB 99.03 0 No comment
    RHOBTB2 98.98 0 No comment
    RIMS1 98.15 0 No comment
    RIPK4 99.54 0 No comment
    RIT1 99.28 0 No comment
    RLIM 99.09 0 No comment
    RMND1 99.20 0 No comment
    RNASEH2A 99.80 0 No comment
    RNASEH2B 94.50 0 No comment
    RNASEH2C 99.62 0 No comment
    RNASET2 99.20 0 No comment
    RNF113A 99.44 0 No comment
    RNF125 98.59 0 No comment
    RNF13 97.23 0 No comment
    RNF135 98.54 0 No comment
    RNF168 99.46 0 No comment
    RNF216 99.40 0 No comment
    ROBO3 98.40 0 No comment
    ROGDI 96.44 0 No comment
    ROR2 97.79 0 No comment
    RORA 99.37 0 No comment
    RORB 99.16 0 No comment
    RPE65 99.50 0 No comment
    RPGR 91.56 0 No comment
    RPGRIP1 98.66 0 No comment
    RPGRIP1L 95.87 0 No comment
    RPIA 97.45 0 No comment
    RPL10 97.70 0 No comment
    RPS19 98.91 0 No comment
    RPS23 99.81 0 No comment
    RPS6KA3 91.96 0 No comment
    RRAS 94.70 0 No comment
    RRM2B 98.76 0 No comment
    RSPH1 99.58 0 No comment
    RSPH3 99.23 0 No comment
    RSPO4 99.59 0 No comment
    RSPRY1 98.70 0 No comment
    RSRC1 94.18 0 No comment
    RTEL1 99.53 0 No comment
    RTN2 99.37 0 No comment
    RTN4IP1 98.71 0 No comment
    RTTN 98.24 0 No comment
    RUNX2 99.01 0 No comment
    RUSC2 99.39 0 No comment
    RYR1 97.61 0 No comment
    RYR3 99.20 0 No comment
    SACS 99.78 0 No comment
    SALL1 99.82 0 No comment
    SALL4 99.82 0 No comment
    SAMD9 99.90 0 No comment
    SAMHD1 99.51 0 No comment
    SARS2 99.19 0 No comment
    SATB1 99.00 0 No comment
    SATB2 99.38 0 No comment
    SBDS 99.45 0 No comment
    SBF1 99.15 0 No comment
    SBF2 98.85 0 No comment
    SC5D 98.71 0 No comment
    SCAF4 98.85 0 No comment
    SCAMP5 99.20 0 No comment
    SCAPER 98.60 0 No comment
    SCARB2 99.18 0 No comment
    SCARF2 93.83 0 No comment
    SCN11A 98.88 0 No comment
    SCN1A 98.90 0 No comment
    SCN1B 95.08 0 No comment
    SCN2A 99.00 0 No comment
    SCN3A 99.17 0 No comment
    SCN4A 98.53 0 No comment
    SCN8A 96.15 0 No comment
    SCN9A 98.95 0 No comment
    SCO1 99.42 0 No comment
    SCO2 95.41 0 No comment
    SCRIB 99.36 0 No comment
    SCYL1 98.07 0 No comment
    SDCCAG8 99.21 0 No comment
    SDHA 98.78 0 No comment
    SDHAF1 95.67 0 No comment
    SEC23B 98.95 0 No comment
    SEC31A 98.89 0 No comment
    SEPSECS 98.34 0 No comment
    SERAC1 98.92 0 No comment
    SET 99.64 0 No comment
    SETBP1 96.95 0 No comment
    SETD1A 98.37 0 No comment
    SETD1B 95.43 0 No comment
    SETD2 99.04 0 No comment
    SETD5 99.01 0 No comment
    SETDB2 98.15 0 No comment
    SETX 99.48 0 No comment
    SF3B4 98.95 0 No comment
    SGCA 99.28 0 No comment
    SGCE 93.44 0 No comment
    SGPL1 98.02 0 No comment
    SGSH 99.56 0 No comment
    SH3PXD2B 98.34 0 No comment
    SH3TC2 99.47 0 No comment
    SHANK1 95.42 0 No comment
    SHANK2 95.90 0 No comment
    SHANK3 84.05 0 No comment
    SHH 97.41 0 No comment
    SHOC2 98.50 0 No comment
    SHOX 99.66 0 No comment
    SHROOM2 96.54 0 No comment
    SHROOM4 98.99 0 No comment
    SIGMAR1 99.83 0 No comment
    SIK1 99.55 0 No comment
    SIL1 99.44 0 No comment
    SIN3A 99.40 0 No comment
    SIX1 99.50 0 No comment
    SIX3 98.04 0 No comment
    SIX5 96.91 0 No comment
    SKI 94.70 0 No comment
    SKIC2 99.87 0 No comment
    SLC12A5 98.41 0 No comment
    SLC12A6 98.39 0 No comment
    SLC13A5 98.63 0 No comment
    SLC16A2 99.13 0 No comment
    SLC17A5 98.11 0 No comment
    SLC19A3 98.65 0 No comment
    SLC1A1 99.06 0 No comment
    SLC1A2 98.81 0 No comment
    SLC1A4 99.04 0 No comment
    SLC20A2 98.04 0 No comment
    SLC22A5 99.51 0 No comment
    SLC25A1 93.07 0 No comment
    SLC25A12 98.89 0 No comment
    SLC25A13 99.00 0 No comment
    SLC25A15 99.02 0 No comment
    SLC25A19 98.60 0 No comment
    SLC25A20 96.95 0 No comment
    SLC25A22 98.89 0 No comment
    SLC25A24 99.54 0 No comment
    SLC25A26 99.04 0 No comment
    SLC25A38 99.44 0 No comment
    SLC25A53 99.18 0 No comment
    SLC25A6 93.97 0 No comment
    SLC26A2 99.60 0 No comment
    SLC26A9 98.51 0 No comment
    SLC27A4 99.39 0 No comment
    SLC2A1 99.21 0 No comment
    SLC2A10 99.62 0 No comment
    SLC2A2 98.55 0 No comment
    SLC30A9 98.53 0 No comment
    SLC31A1 98.80 0 No comment
    SLC33A1 98.15 0 No comment
    SLC35A1 98.63 0 No comment
    SLC35A2 98.33 0 No comment
    SLC35A3 98.16 0 No comment
    SLC35C1 99.23 0 No comment
    SLC35D1 97.31 0 No comment
    SLC39A13 99.08 0 No comment
    SLC39A14 99.48 0 No comment
    SLC39A8 99.08 0 No comment
    SLC45A1 99.36 0 No comment
    SLC46A1 99.30 0 No comment
    SLC4A1 95.32 0 No comment
    SLC4A11 99.30 0 No comment
    SLC4A4 98.81 0 No comment
    SLC52A3 99.86 0 No comment
    SLC5A2 99.60 0 No comment
    SLC5A5 98.75 0 No comment
    SLC5A6 99.13 0 No comment
    SLC5A7 99.53 0 No comment
    SLC6A1 98.74 0 No comment
    SLC6A17 98.68 0 No comment
    SLC6A19 99.55 0 No comment
    SLC6A3 99.88 0 No comment
    SLC6A4 99.05 0 No comment
    SLC6A5 99.35 0 No comment
    SLC6A8 91.92 0 No comment
    SLC6A9 99.08 0 No comment
    SLC7A7 99.58 0 No comment
    SLC9A6 89.27 0 No comment
    SLC9A9 98.10 0 No comment
    SLX4 99.16 0 No comment
    SMAD3 98.93 0 No comment
    SMAD4 99.09 0 No comment
    SMARCA1 93.45 0 No comment
    SMARCA2 96.71 0 No comment
    SMARCA4 98.96 0 No comment
    SMARCAL1 99.40 0 No comment
    SMARCB1 99.67 0 No comment
    SMARCC1 98.91 0 No comment
    SMARCC2 98.49 0 No comment
    SMARCD1 98.02 0 No comment
    SMARCD2 89.27 0 No comment
    SMARCD3 95.19 0 No comment
    SMARCE1 99.13 0 No comment
    SMC1A 97.63 0 No comment
    SMC3 98.43 0 No comment
    SMCHD1 96.94 0 No comment
    SMG9 99.03 0 No comment
    SMO 97.34 0 No comment
    SMOC1 99.47 0 No comment
    SMPD1 99.59 0 No comment
    SMPD4 99.16 0 No comment
    SMS 93.00 0 No comment
    SNAP25 99.07 0 No comment
    SNAP29 97.81 0 No comment
    SNCA 99.88 0 No comment
    SNIP1 99.49 0 No comment
    SNRPB 99.04 0 No comment
    SNTG1 99.41 0 No comment
    SNX14 98.24 0 No comment
    SNX27 97.42 0 No comment
    SNX3 97.57 0 No comment
    SOBP 91.72 0 No comment
    SON 99.58 0 No comment
    SOS1 98.49 0 No comment
    SOS2 98.44 0 No comment
    SOX10 99.18 0 No comment
    SOX11 98.67 0 No comment
    SOX17 99.36 0 No comment
    SOX2 99.09 0 No comment
    SOX3 92.70 0 No comment
    SOX4 92.73 0 No comment
    SOX5 99.41 0 No comment
    SOX6 98.79 0 No comment
    SOX9 98.76 0 No comment
    SPAG1 92.96 0 No comment
    SPAST 98.37 0 No comment
    AFG2A 98.79 0 No comment
    SPECC1L 99.39 0 No comment
    SPEG 98.56 0 No comment
    SPG11 98.94 0 No comment
    SPART 99.65 0 No comment
    SPG21 99.56 0 No comment
    SPG7 97.12 0 No comment
    SPR 96.31 0 No comment
    SPRED1 99.02 0 No comment
    SPRTN 98.90 0 No comment
    SPRY3 99.98 0 No comment
    SPTAN1 98.92 0 No comment
    SPTBN2 99.21 0 No comment
    SPTLC1 99.27 0 No comment
    SPTLC2 97.79 0 No comment
    SRCAP 99.48 0 No comment
    SRD5A3 99.57 0 No comment
    SREBF2 98.39 0 No comment
    SRGAP3 99.31 0 No comment
    SRP54 98.17 0 No comment
    SRPX2 97.52 0 No comment
    SRY 49.45 0 No comment
    SSR4 96.62 0 No comment
    ST3GAL3 99.33 0 No comment
    ST3GAL5 95.14 0 No comment
    STAB2 99.01 0 No comment
    STAG1 98.53 0 No comment
    STAG2 88.40 0 No comment
    STAMBP 99.15 0 No comment
    STAR 98.82 0 No comment
    STARD8 98.62 0 No comment
    STAT1 99.43 0 No comment
    STAT5B 99.51 0 No comment
    STIL 99.10 0 No comment
    STRA6 98.39 0 No comment
    STRADA 98.02 0 No comment
    STS 94.96 0 No comment
    STT3A 99.15 0 No comment
    STT3B 97.48 0 No comment
    STUB1 98.49 0 No comment
    STX11 99.96 0 No comment
    STX1B 99.29 0 No comment
    STX3 99.34 0 No comment
    STXBP1 99.41 0 No comment
    SUCLG1 97.18 0 No comment
    SUFU 97.89 0 No comment
    SUMF1 99.40 0 No comment
    SUOX 99.68 0 No comment
    SURF1 97.97 0 No comment
    KMT5B 99.52 0 No comment
    SYN1 90.54 0 No comment
    SYNCRIP 99.53 0 No comment
    SYNE1 99.37 0 No comment
    SYNGAP1 97.57 0 No comment
    SYNJ1 98.62 0 No comment
    SYP 98.38 0 No comment
    SYT1 98.69 0 No comment
    SYT14 92.68 0 No comment
    SYTL4 95.73 0 No comment
    SYTL5 95.65 0 No comment
    SZT2 99.40 0 No comment
    TAB2 99.63 0 No comment
    TACO1 99.03 0 No comment
    TAF1 96.88 0 No comment
    TAF13 99.08 0 No comment
    TAF2 98.77 0 No comment
    TAF6 98.77 0 No comment
    TAF7L 96.34 0 No comment
    TANC2 99.08 0 No comment
    TANGO2 99.49 0 No comment
    TAOK1 98.85 0 No comment
    TARDBP 98.93 0 No comment
    TAT 99.63 0 No comment
    TAFAZZIN 98.45 0 No comment
    TBC1D20 96.79 0 No comment
    TBC1D23 96.93 0 No comment
    TBC1D24 99.04 0 No comment
    TBC1D7 99.38 0 No comment
    TBC1D8B 94.09 0 No comment
    TBCD 99.00 0 No comment
    TBCE 97.65 0 No comment
    TBCK 98.11 0 No comment
    TBL1XR1 99.36 0 No comment
    TBP 94.39 0 No comment
    TBR1 97.83 0 No comment
    TBX1 80.23 0 No comment
    TBX15 99.32 0 No comment
    TBX20 98.62 0 No comment
    TBX22 98.45 0 No comment
    TBX3 99.44 0 No comment
    TBX4 96.92 0 No comment
    TBX5 99.04 0 No comment
    TBXAS1 99.15 0 No comment
    TCEAL3 98.98 0 No comment
    TCF12 99.27 0 No comment
    TCF20 99.92 0 No comment
    TCF4 98.18 0 No comment
    TCN2 99.16 0 No comment
    TCOF1 98.98 0 No comment
    TCP10L2 96.65 0 No comment
    TCTN1 99.23 0 No comment
    TCTN2 98.51 0 No comment
    TCTN3 99.33 0 No comment
    TDP2 98.45 0 No comment
    TECPR2 97.98 0 No comment
    TECR 99.15 0 No comment
    TEK 98.69 0 No comment
    TELO2 98.42 0 No comment
    TENM1 97.40 0 No comment
    TERT 97.99 0 No comment
    TFAP2A 99.10 0 No comment
    TFAP2B 99.67 0 No comment
    TFB2M 97.77 0 No comment
    TFE3 97.18 0 No comment
    TFG 97.71 0 No comment
    TGDS 98.69 0 No comment
    TGFB1 98.69 0 No comment
    TGFB2 99.24 0 No comment
    TGFB3 98.80 0 No comment
    TGFBR1 94.44 0 No comment
    TGFBR2 99.42 0 No comment
    TGIF1 99.54 0 No comment
    TGM6 99.52 0 No comment
    TH 98.92 0 No comment
    THAP1 99.83 0 No comment
    THOC2 95.28 0 No comment
    THOC6 99.31 0 No comment
    THRA 98.88 0 No comment
    THRB 99.50 0 No comment
    THUMPD1 97.86 0 No comment
    TIMM50 99.61 0 No comment
    TIMM8A 98.50 0 No comment
    TINF2 99.50 0 No comment
    TK2 96.78 0 No comment
    TKT 97.27 0 No comment
    TKTL1 96.74 0 No comment
    TLK2 98.47 0 No comment
    TLR8 97.46 0 No comment
    TM4SF20 99.00 0 No comment
    TMCO1 94.77 0 No comment
    TMEM126B 97.26 0 No comment
    TMEM132E 98.50 0 No comment
    TMEM135 98.43 0 No comment
    TMEM165 94.88 0 No comment
    TMEM216 99.71 0 No comment
    TMEM231 99.23 0 No comment
    TMEM237 97.63 0 No comment
    TMEM240 99.05 0 No comment
    TMEM260 98.99 0 No comment
    RXYLT1 98.12 0 No comment
    TMEM67 96.82 0 No comment
    TMEM70 99.03 0 No comment
    TMLHE 95.63 0 No comment
    TMPRSS6 99.18 0 No comment
    TMTC3 98.30 0 No comment
    TMX2 99.71 0 No comment
    TNIK 98.61 0 No comment
    TNKS2 98.85 0 No comment
    TNPO2 99.19 0 No comment
    TNRC6B 99.23 0 No comment
    TOE1 99.29 0 No comment
    TOMM70 98.81 0 No comment
    TOR1A 99.40 0 No comment
    TP63 99.19 0 No comment
    TPH2 99.50 0 No comment
    TPK1 98.78 0 No comment
    TPP1 99.55 0 No comment
    TRAF7 99.15 0 No comment
    TRAIP 99.21 0 No comment
    TRAK1 99.03 0 No comment
    TRAPPC11 99.04 0 No comment
    TRAPPC12 99.42 0 No comment
    TRAPPC2 95.98 0 No comment
    TRAPPC4 99.44 0 No comment
    TRAPPC6A 98.87 0 No comment
    TRAPPC6B 98.72 0 No comment
    TRAPPC9 99.07 0 No comment
    TREX1 99.86 0 No comment
    TREX2 96.69 0 No comment
    TRHR 99.49 0 No comment
    TRIM32 99.91 0 No comment
    TRIM37 99.00 0 No comment
    TRIM8 98.75 0 No comment
    TRIO 96.38 0 No comment
    TRIP11 99.09 0 No comment
    TRIP12 98.93 0 No comment
    TRIP13 96.31 0 No comment
    TRIT1 99.11 0 No comment
    TRMT1 98.51 0 No comment
    TRMT10A 99.25 0 No comment
    TRPM1 99.80 0 No comment
    TRPM3 99.30 0 No comment
    TRPS1 99.67 0 No comment
    TRPV4 98.68 0 No comment
    TRRAP 98.54 0 No comment
    TSC1 99.22 0 No comment
    TSC2 98.76 0 No comment
    TSC22D3 98.85 0 No comment
    TSEN15 99.17 0 No comment
    TSEN2 99.38 0 No comment
    TSEN34 99.39 0 No comment
    TSEN54 96.81 0 No comment
    TSFM 91.27 0 No comment
    TSHB 99.78 0 No comment
    TSHR 99.48 0 No comment
    TSPAN7 97.97 0 No comment
    TSPAN8 98.82 0 No comment
    TTBK2 98.86 0 No comment
    TTC19 96.22 0 No comment
    SKIC3 99.15 0 No comment
    TTC5 99.03 0 No comment
    TTC7A 98.98 0 No comment
    TTC8 98.53 0 No comment
    TTI2 99.31 0 No comment
    TTN 99.43 0 No comment
    TTPA 96.73 0 No comment
    TTR 98.18 0 No comment
    TUBA1A 99.98 0 No comment
    TUBA8 99.57 0 No comment
    TUBAL3 99.75 0 No comment
    TUBB 99.92 0 No comment
    TUBB2A 99.92 0 No comment
    TUBB2B 99.64 0 No comment
    TUBB3 99.69 0 No comment
    TUBB4A 99.78 0 No comment
    TUBG1 99.68 0 No comment
    TUBGCP4 98.92 0 No comment
    TUBGCP6 99.55 0 No comment
    TUFM 99.36 0 No comment
    TUSC3 99.50 0 No comment
    TWIST1 87.92 0 No comment
    TWIST2 99.24 0 No comment
    TXNL4A 99.72 0 No comment
    TYR 99.29 0 No comment
    TYRP1 99.39 0 No comment
    UBA5 98.17 0 No comment
    UBE2A 88.22 0 No comment
    UBE3A 99.06 0 No comment
    UBE3B 98.65 0 No comment
    UBR1 99.11 0 No comment
    UBR4 98.90 0 No comment
    UBR7 97.01 0 No comment
    UBTF 99.61 0 No comment
    UFC1 99.37 0 No comment
    UFM1 99.16 0 No comment
    UGP2 98.46 0 No comment
    UGT1A1 99.45 0 No comment
    UMPS 98.48 0 No comment
    UNC13A 99.25 0 No comment
    UNC80 98.86 0 No comment
    UPB1 99.39 0 No comment
    UPF3B 94.60 0 No comment
    UQCRB 99.87 0 No comment
    UQCRQ 99.36 0 No comment
    UROC1 99.06 0 No comment
    UROS 99.56 0 No comment
    USB1 99.41 0 No comment
    USP18 99.79 0 No comment
    USP27X 99.46 0 No comment
    USP7 99.02 0 No comment
    USP9X 95.44 0 No comment
    UTP14A 97.77 0 No comment
    UVSSA 99.24 0 No comment
    VAMP1 96.99 0 No comment
    VAMP2 99.53 0 No comment
    VAMP7 96.50 0 No comment
    VARS1 99.74 0 No comment
    VDR 97.94 0 No comment
    CPAMD8 98.98 0 No comment
    VIPAS39 98.17 0 No comment
    VLDLR 99.08 0 No comment
    VPS11 99.39 0 No comment
    VPS13B 98.28 0 No comment
    VPS33B 99.23 0 No comment
    VPS35 99.22 0 No comment
    VPS51 99.19 0 No comment
    VPS53 97.29 0 No comment
    VRK1 98.70 0 No comment
    VSX2 98.36 0 No comment
    WAC 98.16 0 No comment
    WARS2 99.20 0 No comment
    WASF1 98.47 0 No comment
    WDFY3 99.10 0 No comment
    WDPCP 98.96 0 No comment
    WDR11 99.19 0 No comment
    WDR13 96.77 0 No comment
    WDR19 98.40 0 No comment
    WDR26 98.93 0 No comment
    DYNC2I2 98.79 0 No comment
    WDR35 99.09 0 No comment
    WDR37 99.18 0 No comment
    WDR4 98.27 0 No comment
    WDR45 97.90 0 No comment
    WDR45B 99.15 0 No comment
    DYNC2I1 98.85 0 No comment
    WDR62 99.01 0 No comment
    WDR73 99.05 0 No comment
    WDR81 99.65 0 No comment
    WFS1 99.63 0 No comment
    NSD2 99.05 0 No comment
    WIPI2 98.93 0 No comment
    WNK3 97.70 0 No comment
    WNT1 98.69 0 No comment
    WNT10B 98.91 0 No comment
    WNT3 99.00 0 No comment
    WNT4 93.68 0 No comment
    WNT5A 98.73 0 No comment
    WNT7A 99.49 0 No comment
    WRAP53 98.86 0 No comment
    WRN 98.36 0 No comment
    WT1 98.77 0 No comment
    WWC3 96.63 0 No comment
    WWOX 99.58 0 No comment
    XIAP 97.48 0 No comment
    XK 96.00 0 No comment
    XKRX 98.90 0 No comment
    XPA 99.29 0 No comment
    XPC 98.92 0 No comment
    XPNPEP3 99.18 0 No comment
    XRCC4 98.59 0 No comment
    XYLT1 90.22 0 No comment
    YAP1 98.22 0 No comment
    YARS1 99.78 0 No comment
    YWHAG 99.64 0 No comment
    YY1 98.44 0 No comment
    ZBTB11 99.16 0 No comment
    ZBTB16 99.58 0 No comment
    ZBTB18 98.72 0 No comment
    ZBTB20 99.54 0 No comment
    ZBTB24 99.82 0 No comment
    ZBTB40 99.17 0 No comment
    ZC3H14 98.92 0 No comment
    ZC4H2 96.37 0 No comment
    ZCCHC12 98.81 0 No comment
    ZCCHC8 92.04 0 No comment
    ZDHHC15 90.89 0 No comment
    ZDHHC9 97.43 0 No comment
    ZEB2 98.91 0 No comment
    ZFHX4 99.34 0 No comment
    ZFP57 99.93 0 No comment
    ZFX 98.98 0 No comment
    ZFYVE26 99.08 0 No comment
    ZIC1 99.80 0 No comment
    ZIC2 89.81 0 No comment
    ZIC3 99.00 0 No comment
    ZMIZ1 99.16 0 No comment
    ZMPSTE24 98.12 0 No comment
    ZMYM3 97.06 0 No comment
    ZMYM6 98.59 0 No comment
    ZMYND11 99.29 0 No comment
    ZMYND12 98.18 0 No comment
    ZNF142 99.52 0 No comment
    ZNF148 99.29 0 No comment
    ZNF292 99.59 0 No comment
    ZNF335 98.86 0 No comment
    ZNF41 99.12 0 No comment
    ZNF425 99.39 0 No comment
    ZNF462 99.73 0 No comment
    ZNF526 99.70 0 No comment
    ZNF592 99.65 0 No comment
    ZNF599 99.82 0 No comment
    ZNF674 98.90 0 No comment
    ZNF711 97.16 0 No comment
    ZNF713 99.38 0 No comment
    ZNF81 99.07 0 No comment
    ZSWIM6 88.76 0 No comment
  • Intellectual disability/Epilepsy (1091 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 99.35 0 Vissers et al., EJHG 2015 : Noonan syndrome
    ABCC9 99.41 0 Hypertrichotic osteochondrodysplasia
    ABCD1 99.49 0 Adrenoleukodystrophy
    ABHD5 98.48 0 Chanarin-Dorfman syndrome
    ACAD9 99.57 0 Mitochondrial complex I deficiency due to ACAD9 deficiency
    ACO2 99.66 0 Infantile cerebellar-retinal degeneration
    ACOX1 99.49 0 Peroxisomal acyl-CoA oxidase deficiency
    ACSL4 91.09 0 Mental retardation, X-linked 63
    ACTB 99.34 0 Baraitser-Winter syndrome 1
    ACTG1 99.69 0 Baraitser-Winter syndrome 2
    ACY1 99.67 0 Aminoacylase 1 deficiency
    ADAR 99.45 0 Aicardi-Goutieres syndrome 6
    ADAT3 81.40 0 Mental retardation, autosomal recessive 36
    ADGRG1 99.67 0 Polymicrogyria, bilateral frontoparietal
    ADK 98.74 0 Hypermethioninemia due to adenosine kinase deficiency
    ADNP 99.55 0 Helsmoortel-van der Aa syndrome
    ADSL 99.58 0 Adenylosuccinase deficiency
    AFF2 90.80 0 Mental retardation, X-linked, FRAXE type
    AGA 99.60 0 Aspartylglucosaminuria
    AGPAT2 91.26 0 Lipodystrophy, congenital generalized, type 1
    AHCY 99.67 0 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
    AHDC1 99.68 0 Xia-Gibbs syndrome
    AHI1 99.05 0 Joubert syndrome 3
    AIMP1 96.88 0 Leukodystrophy, hypomyelinating, 3
    AKT3 98.82 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
    ALDH18A1 99.66 0 Cutis laxa, autosomal recessive, type IIIA
    ALDH3A2 99.31 0 Sjogren-Larsson syndrome
    ALDH4A1 96.44 0 Hyperprolinemia, type II
    ALDH5A1 93.04 0 Succinic semialdehyde dehydrogenase deficiency
    ALDH7A1 99.00 0 Epilepsy, pyridoxine-dependent
    ALG1 99.43 0 Congenital disorder of glycosylation, type Ik
    ALG11 99.57 0 Congenital disorder of glycosylation, type Ip
    ALG12 99.69 0 Congenital disorder of glycosylation, type Ig
    ALG13 92.88 0 Epileptic encephalopathy, early infantile, 36
    ALG2 97.14 0 Myasthenic syndrome, congenital, 14, with tubular aggregates
    ALG3 99.59 0 Congenital disorder of glycosylation, type Id
    ALG6 98.36 0 Congenital disorder of glycosylation, type Ic
    ALG9 96.33 0 Gillessen-Kaesbach-Nishimura syndrome
    ALMS1 98.27 0 Alstrom syndrome
    ALX1 99.52 0 Frontonasal dysplasia 3
    ALX4 99.07 0 Frontonasal dysplasia 2
    AMER1 99.96 0 Osteopathia striata with cranial sclerosis
    AMPD2 99.69 0 Pontocerebellar hypoplasia, type 9
    AMT 99.69 0 Glycine encephalopathy
    ANK3 99.47 0 Mental retardation, autosomal recessive, 37
    ANKH 99.64 0 Craniometaphyseal dysplasia
    ANKRD11 99.68 0 KBG syndrome
    AP1S1 99.50 0 MEDNIK syndrome
    AP1S2 88.78 0 Mental retardation, X-linked syndromic 5
    AP4B1 99.61 0 Spastic paraplegia 47, autosomal recessive
    AP4M1 99.68 0 Spastic paraplegia 50, autosomal recessive
    AP4S1 99.48 0 Spastic paraplegia 52, autosomal recessive
    APTX 99.02 0 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
    ARCN1 99.27 0 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
    ARFGEF2 99.31 0 Periventricular heterotopia with microcephaly
    ARG1 99.53 0 Argininemia
    ARHGAP31 99.60 0 Adams-Oliver syndrome 1
    ARHGEF2 99.64 0 Neurodevelopmental disorder with midbrain and hindbrain malformations
    ARHGEF9 97.26 0 Epileptic encephalopathy, early infantile, 8
    ARID1A 97.02 0 Coffin-Siris syndrome 2
    ARID1B 97.57 0 Coffin-Siris syndrome 1
    ARID2 99.33 0 Coffis-Siris syndrome 6
    ARL13B 98.36 0 Joubert syndrome 8
    ARL6 99.09 0 Bardet-Biedl syndrome 3
    ARSL 90.38 0 Chondrodysplasia punctata, X-linked recessive
    ARX 65.25 0 Mental retardation, X-linked 29 and others
    ASH1L 99.53 0 Okamoto et al., AJMG 2017 : MCA/ID syndrome
    ASNS 99.42 0 Asparagine synthetase deficiency
    ASPA 99.17 0 Canavan disease
    ASPM 98.50 0 Microcephaly 5, primary, autosomal recessive
    ASXL1 95.03 0 Bohring-Opitz syndrome
    ASXL3 98.20 0 Bainbridge-Ropers syndrome
    ATIC 96.73 0 AICA-ribosiduria due to ATIC deficiency
    ATP6V0A2 99.12 0 Cutis laxa, autosomal recessive, type IIA
    ATP7A 94.32 0 Menkes disease
    ATR 99.17 0 Seckel syndrome 1
    ATRIP 95.19 0 Ogi et al., PLoS Genet 2012 : Seckel syndrome
    ATRX 92.10 0 Mental retardation-hypotonic facies syndrome, X-linked
    AUH 96.75 0 3-methylglutaconic aciduria, type I
    AUTS2 97.55 0 Mental retardation, autosomal dominant 26
    B3GLCT 92.21 0 Peters-plus syndrome
    B4GALT1 98.41 0 Congenital disorder of glycosylation, type IId
    B4GALT7 83.36 0 Ehlers-Danlos syndrome with short stature and limb anomalies
    BBIP1 99.64 0 Bardet-Biedl syndrome 18
    BBS1 99.66 0 Bardet-Biedl syndrome 1
    BBS10 99.57 0 Bardet-Biedl syndrome 10
    BBS12 99.52 0 Bardet-Biedl syndrome 12
    BBS2 99.32 0 Bardet-Biedl syndrome 2
    BBS4 99.49 0 Bardet-Biedl syndrome 4
    BBS5 98.49 0 Bardet-Biedl syndrome 5
    BBS7 99.00 0 Bardet-Biedl syndrome 7
    BBS9 98.68 0 Bardet-Biedl syndrome 9
    BCKDHB 98.82 0 Maple syrup urine disease, type Ib
    BCL11A 99.16 0 Dias-Logan syndrome
    BCOR 96.85 0 Microphthalmia, syndromic 2
    BCS1L 99.69 0 Leigh syndrome
    BLM 99.07 0 Bloom syndrome
    BRAF 94.78 0 Noonan syndrome 7
    BRPF1 99.67 0 Intellectual developmental disorder with dysmorphic facies and ptosis
    BRWD3 93.74 0 Mental retardation, X-linked 93
    BSCL2 99.67 0 Encephalopathy, progressive, with or without lipodystrophy
    BTD 99.68 0 Biotinidase deficiency
    BUB1B 99.40 0 Mosaic variegated aneuploidy syndrome 1
    C12ORF57 99.69 0 Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, épilepsie.
    C19ORF12 99.69 0 Neurodegeneration with brain iron accumulation 4
    C2CD3 99.44 0 Orofaciodigital syndrome XIV
    CPLANE1 98.89 0 Joubert syndrome 17
    CA8 99.19 0 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
    CACNA1A 99.12 0 Epileptic encephalopathy, early infantile, 42
    CACNA1C 99.65 0 Timothy syndrome
    CACNA1D 99.50 0 Primary aldosteronism, seizures, and neurologic abnormalities
    CAMK2A 99.67 0 Mental retardation, autosomal dominant 53
    CAMK2B 96.34 0 Mental retardation, autosomal dominant 54
    CANT1 99.60 0 Desbuquois dysplasia 1
    CASK 95.36 0 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
    CAV1 99.67 0 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
    CAVIN1 99.31 0 Lipodystrophy, congenital generalized, type 4
    CBL 99.54 0 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
    CBS 99.69 0 Homocystinuria, B6-responsive and nonresponsive types
    CC2D1A 99.64 0 Mental retardation, autosomal recessive 3
    CC2D2A 99.11 0 Joubert syndrome 9
    CCDC22 99.91 0 Ritscher-Schinzel syndrome 2
    CCDC39 98.07 0 Ciliary dyskinesia, primary, 14
    CCDC78 99.69 0 Myopathy, centronuclear, 4
    CCDC88C 99.38 0 Hydrocephalus, nonsyndromic, autosomal recessive
    CD96 99.13 0 C syndrome
    CDC45 99.57 0 Meier-Gorlin syndrome 7
    CDC6 99.32 0 Meier-Gorlin syndrome 5
    CDH15 96.19 0 Mental retardation, autosomal dominant 3
    CDK13 95.39 0 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
    CDK5RAP2 99.45 0 Microcephaly 3, primary, autosomal recessive
    CDKL5 87.62 0 Epileptic encephalopathy, early infantile, 2
    CDON 98.90 0 Holoprosencephaly 11
    CDT1 89.72 0 Meier-Gorlin syndrome 4
    CENPJ 99.19 0 Microcephaly 6, primary, autosomal recessive
    CEP135 97.81 0 Microcephaly 8, primary, autosomal recessive
    CEP152 98.40 0 Microcephaly 9, primary, autosomal recessive
    CEP290 97.64 0 Joubert syndrome 5
    CEP41 99.07 0 Joubert syndrome 15
    CEP57 99.09 0 Mosaic variegated aneuploidy syndrome 2
    CEP63 99.06 0 Seckel syndrome 6
    CHAMP1 99.63 0 Mental retardation, autosomal dominant 40
    CHAT 97.70 0 Myasthenic syndrome, congenital, 6, presynaptic
    CHD2 99.18 0 Epileptic encephalopathy, childhood-onset
    CHD4 99.65 0 Sifrim-Hitz-Weiss syndrome
    CHD7 99.53 0 CHARGE syndrome
    CHD8 99.58 0 Autism, susceptibility to, 18
    CHKB 97.97 0 Muscular dystrophy, congenital, megaconial type
    CHMP1A 99.59 0 Pontocerebellar hypoplasia, type 8
    CHRNA4 90.96 0 Epilepsy, nocturnal frontal lobe, 1
    CHRND 99.68 0 Myasthenic syndrome, congenital, 3B, fast-channel
    CISD2 98.61 0 Wolfram syndrome 2
    CLCN4 99.27 0 Mental retardation, X-linked 49/15
    CLN3 99.69 0 Ceroid lipofuscinosis, neuronal, 3
    CLN5 97.69 0 Ceroid lipofuscinosis, neuronal, 5
    CLN6 85.06 0 Ceroid lipofuscinosis, neuronal, 6
    CLN8 99.69 0 Ceroid lipofuscinosis, neuronal, 8
    CLP1 99.68 0 Pontocerebellar hypoplasia, type 10
    CLPB 99.62 0 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
    CNKSR2 91.50 0 Houge et al., Mol Syndromol 2012 : ID
    CNTNAP2 99.39 0 Pitt-Hopkins like syndrome 1
    COASY 99.68 0 Neurodegeneration with brain iron accumulation 6
    COG1 98.34 0 Congenital disorder of glycosylation, type IIg
    COG5 99.11 0 Congenital disorder of glycosylation, type IIi
    COG6 98.39 0 Congenital disorder of glycosylation, type IIl
    COG7 99.66 0 Congenital disorder of glycosylation, type IIe
    COG8 97.38 0 Congenital disorder of glycosylation, type IIh
    COL4A1 97.86 0 Porencephaly 1
    COL4A2 99.62 0 Porencephaly 2
    CERT1 99.15 0 Mental retardation, autosomal dominant 34
    COLEC10 99.16 0 Mental retardation, autosomal dominant 34
    COLEC11 99.67 0 3MC syndrome 2
    COQ2 94.52 0 Coenzyme Q10 deficiency, primary, 1
    COQ4 98.74 0 Coenzyme Q10 deficiency, primary, 7
    COQ6 99.60 0 Coenzyme Q10 deficiency, primary, 6
    COQ7 99.40 0 Coenzyme Q10 deficiency, primary, 8
    COQ8A 99.69 0 Coenzyme Q10 deficiency, primary, 4
    COQ9 98.23 0 Coenzyme Q10 deficiency, primary, 5
    COX10 99.65 0 Leigh syndrome due to mitochondrial COX4 deficiency
    CRADD 99.63 0 Mental retardation, autosomal recessive 34, with variant lissencephaly
    CRBN 98.86 0 Mental retardation, autosomal recessive 2
    CREBBP 99.62 0 Rubinstein-Taybi syndrome 1
    CSNK2A1 99.32 0 Okur-Chung neurodevelopmental syndrome
    CSPP1 98.95 0 Joubert syndrome 21
    CTC1 99.57 0 Cerebroretinal microangiopathy with calcifications and cysts
    CTCF 99.65 0 Mental retardation, autosomal dominant 21
    CTNNB1 99.65 0 Mental retardation, autosomal dominant 19
    CTSA 99.59 0 Galactosialidosis
    CTSD 94.51 0 Ceroid lipofuscinosis, neuronal, 10
    CUL4B 84.65 0 Mental retardation, X-linked, syndromic 15 (Cabezas type)
    CYB5R3 88.44 0 Methemoglobinemia, type I
    CYP27A1 97.94 0 Cerebrotendinous xanthomatosis
    D2HGDH 98.50 0 D-2-hydroxyglutaric aciduria
    DAG1 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
    DARS2 99.20 0 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
    DCAF17 93.81 0 Woodhouse-Sakati syndrome
    DCC 99.55 0 Mirror movements 1 and/or agenesis of the corpus callosum
    DCPS 99.69 0 Al-Raqad syndrome
    DCX 96.94 0 Lissencephaly, X-linked
    DDB2 99.69 0 Xeroderma pigmentosum, group E, DDB-negative subtype
    DDHD2 97.74 0 Spastic paraplegia 54, autosomal recessive
    DDX11 99.66 0 Warsaw breakage syndrome
    DDX3X 96.52 0 Mental retardation, X-linked 102
    DEAF1 92.63 0 Mental retardation, autosomal dominant 24
    DHCR24 99.34 0 Desmosterolosis
    DHCR7 99.68 0 Smith-Lemli-Opitz syndrome
    DHFR 98.50 0 Megaloblastic anemia due to dihydrofolate reductase deficiency
    DHX30 99.51 0 Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities.
    DIAPH1 95.85 0 Seizures, cortical blindness, microcephaly syndrome
    DKC1 91.60 0 Dyskeratosis congenita, X-linked
    DLD 99.08 0 Dihydrolipoamide dehydrogenase deficiency
    DLG3 98.91 0 Mental retardation, X-linked 90
    DLL4 99.61 0 Adams-Oliver syndrome 6
    DNAJC19 97.60 0 3-methylglutaconic aciduria, type V
    DNM1 96.84 0 Epileptic encephalopathy, early infantile, 31
    DNMT3A 99.69 0 Tatton-Brown-Rahman syndrome
    DNMT3B 99.69 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 1
    DOCK6 97.92 0 Adams-Oliver syndrome 2
    DOCK8 99.24 0 Hyper-IgE recurrent infection syndrome, autosomal recessive
    DPAGT1 99.68 0 Congenital disorder of glycosylation, type Ij
    DPH1 99.67 0 Developmental delay with short stature, dysmorphic features, and sparse hair
    DPM1 99.27 0 Congenital disorder of glycosylation, type Ie
    DPP6 99.57 0 Mental retardation, autosomal dominant 33
    DSCAM 99.29 0 Wang et al., Nat Commun 2016 : Autisme
    DYNC1H1 99.50 0 Mental retardation, autosomal dominant 13
    DYRK1A 99.53 0 Mental retardation, autosomal dominant 7
    EARS2 99.64 0 Combined oxidative phosphorylation deficiency 12
    EBF3 98.59 0 Hypotonia, ataxia, and delayed development syndrome
    EBP 99.89 0 MEND syndrome
    ECHS1 98.49 0 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
    EDC3 99.68 0 Mental retardation, autosomal recessive 50
    EEF1A2 88.74 0 Mental retardation, autosomal dominant 38
    EFNB1 99.39 0 Craniofrontonasal dysplasia
    EFTUD2 99.44 0 Mandibulofacial dysostosis, Guion-Almeida type
    EHMT1 95.40 0 Kleefstra syndrome
    EIF2AK3 94.12 0 Wolcott-Rallison syndrome
    EIF2S3 97.88 0 Mental retardation, X-linked, syndromic, Borck type
    ELOVL4 99.45 0 Ichthyosis, spastic quadriplegia, and mental retardation
    ELP2 98.99 0 Mental retardation, autosomal recessive 58
    EML1 96.28 0 Band heterotopia
    EMX2 99.48 0 Schizencephaly
    ENTPD1 99.05 0 Spastic paraplegia 64, autosomal recessive
    EOGT 99.33 0 Adams-Oliver syndrome 4
    EP300 99.56 0 Rubinstein-Taybi syndrome 2
    EPB41L1 99.69 0 Mental retardation, autosomal dominant 11
    EPG5 99.47 0 Vici syndrome
    ERCC2 99.67 0 Cerebrooculofacioskeletal syndrome 2
    ERCC3 99.68 0 Xeroderma pigmentosum, group B
    ERCC4 99.35 0 Xeroderma pigmentosum, type F/Cockayne syndrome
    ERCC5 99.48 0 Xeroderma pigmentosum, group G/Cockayne syndrome
    ERCC6 99.07 0 Cerebrooculofacioskeletal syndrome 1
    ERCC8 99.27 0 Cockayne syndrome, type A
    ERLIN2 99.32 0 Spastic paraplegia 18, autosomal recessive
    ESCO2 98.50 0 Roberts syndrome
    ETHE1 99.60 0 Ethylmalonic encephalopathy
    EXOSC3 99.53 0 Pontocerebellar hypoplasia, type 1B
    EZH2 99.41 0 Weaver syndrome
    EZR 99.63 0 Riecken et al., Hum Mut 2015 : ID
    HYCC1 98.81 0 Leukodystrophy, hypomyelinating, 5
    FARS2 99.56 0 Combined oxidative phosphorylation deficiency 14
    FAT4 99.39 0 Van Maldergem syndrome 2
    FBXL4 99.46 0 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
    FBXO31 93.34 0 Mental retardation, autosomal recessive 45
    FGD1 98.23 0 Mental retardation, X-linked syndromic 16
    FGFR1 99.69 0 Hypogonadotropic hypogonadism 2 with or without anosmia
    FGFR2 99.67 0 Saethre-Chotzen syndrome
    FGFR3 95.86 0 Crouzon syndrome with acanthosis nigricans
    FH 99.29 0 Fumarase deficiency
    FKRP 85.03 0 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
    FKTN 99.13 0 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
    FLNA 99.73 0 Heterotopia, periventricular
    FMN2 99.05 0 Mental retardation, autosomal recessive 47
    FMR1 94.48 0 Fragile X tremor/ataxia syndrome
    FOLR1 99.69 0 Neurodegeneration due to cerebral folate transport deficiency
    FOXG1 84.20 0 Rett syndrome, congenital variant
    FOXP1 99.55 0 Mental retardation with language impairment and with or without autistic features
    FOXP2 99.34 0 Speech-language disorder-1
    FOXRED1 99.63 0 Leigh syndrome due to mitochondrial complex I deficiency
    FRAS1 99.57 0 Fraser syndrome 1
    FREM2 99.23 0 Fraser syndrome 2
    FRMPD4 96.56 0 Mental retardation, X-linked 104
    FTCD 95.82 0 Glutamate formiminotransferase deficiency
    FTL 99.55 0 Neurodegeneration with brain iron accumulation 3
    FTO 99.47 0 Growth retardation, developmental delay, facial dysmorphism
    FTSJ1 99.69 0 Mental retardation, X-linked 9/44
    FUCA1 98.18 0 Fucosidosis
    GABRA3 87.08 0 Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
    GABRB3 94.66 0 Epileptic encephalopathy, early infantile, 43
    GABRG2 99.57 0 Epilepsy, generalized, with febrile seizures plus, type 3
    GALT 99.68 0 Galactosemia
    GAMT 93.42 0 Cerebral creatine deficiency syndrome 2
    GAN 98.90 0 Giant axonal neuropathy-1
    GATAD2B 99.69 0 Mental retardation, autosomal dominant 18
    GATM 94.01 0 Cerebral creatine deficiency syndrome 3
    GBE1 98.82 0 Glycogen storage disease IV
    GCH1 93.92 0 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
    GCSH 86.02 0 Glycine encephalopathy
    GDI1 95.21 0 Mental retardation, X-linked 41
    GFAP 99.69 0 Alexander disease
    GJC2 73.70 0 Leukodystrophy, hypomyelinating, 2
    GLB1 99.56 0 GM1-gangliosidosis, type I
    GLDC 97.83 0 Glycine encephalopathy
    GLI2 98.60 0 Holoprosencephaly 9
    GLI3 99.55 0 Greig cephalopolysyndactyly syndrome
    GLUL 99.68 0 Glutamine deficiency, congenital
    GLYCTK 99.69 0 D-glyceric aciduria
    GM2A 99.68 0 GM2-gangliosidosis, AB variant
    GMPPA 99.69 0 Alacrima, achalasia, and mental retardation syndrome
    GMPPB 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
    GNAI3 99.08 0 Auriculocondylar syndrome 1
    GNAO1 99.66 0 Epileptic encephalopathy, early infantile, 17
    GNAS 97.96 0 Pseudohypoparathyroidism Ia
    GNPAT 97.06 0 Rhizomelic chondrodysplasia punctata, type 2
    GNPTAB 99.49 0 Mucolipidosis II alpha/beta
    GNPTG 90.19 0 Mucolipidosis III gamma
    GNS 99.55 0 Mucopolysaccharidosis type IIID
    GPC3 91.66 0 Simpson-Golabi-Behmel syndrome, type 1
    GPHN 99.58 0 Molybdenum cofactor deficiency C
    GPSM2 99.10 0 Chudley-McCullough syndrome
    GPT2 95.20 0 Mental retardation, autosomal recessive 49
    GRIA3 89.99 0 Mental retardation, X-linked 94
    GRID2 99.47 0 Spinocerebellar ataxia, autosomal recessive 18
    GRIK2 99.13 0 Mental retardation, autosomal recessive, 6
    GRIN1 99.54 0 Mental retardation, autosomal dominant 8
    GRIN2A 99.68 0 Epilepsy, focal, with speech disorder and with or without mental retardation
    GRIN2B 99.66 0 Mental retardation, autosomal dominant 6
    GRIP1 99.65 0 Fraser syndrome 3
    GRM1 99.46 0 Spinocerebellar ataxia 44
    GSS 99.59 0 Glutathione synthetase deficiency
    GTF2E2 98.86 0 Trichothiodystrophy 6, nonphotosensitive
    GTF2H5 99.64 0 Trichothiodystrophy 3, photosensitive
    GTPBP3 97.37 0 Combined oxidative phosphorylation deficiency 23
    GUSB 98.73 0 Mucopolysaccharidosis VII
    HACE1 96.37 0 Spastic paraplegia and psychomotor retardation with or without seizures
    HCFC1 99.76 0 Spastic paraplegia and psychomotor retardation with or without seizures
    HCN1 94.14 0 Epileptic encephalopathy, early infantile, 24
    HDAC4 99.68 0 Fisch et al., AJMG 2016 : ID
    HDAC8 99.17 0 Cornelia de Lange syndrome 5
    HECW2 99.50 0 Neurodevelopmental disorder with hypotonia, seizures, and absent language
    HEPACAM 91.30 0 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
    HERC1 99.49 0 Macrocephaly, dysmorphic facies, and psychomotor retardation
    HERC2 99.66 0 Mental retardation, autosomal recessive 38
    HESX1 98.36 0 Growth hormone deficiency with pituitary anomalies
    HEXA 99.67 0 Tay-Sachs disease
    HEXB 97.84 0 Sandhoff disease, infantile, juvenile, and adult forms
    HGSNAT 94.00 0 Mucopolysaccharidosis type IIIC (Sanfilippo C)
    HIVEP2 99.60 0 Mental retardation, autosomal dominant 43
    HLCS 99.60 0 Holocarboxylase synthetase deficiency
    HNMT 99.26 0 Mental retardation, autosomal recessive 51
    HNRNPH2 99.85 0 Mental retardation, X-linked, syndromic, Bain type
    HNRNPK 99.17 0 Au-Kline syndrome
    HNRNPU 98.33 0 Epileptic encephalopathy, early infantile, 54
    HOXA1 99.65 0 Athabaskan brainstem dysgenesis syndrome
    HPRT1 75.78 0 Lesch-Nyhan syndrome
    HRAS 99.69 0 Costello syndrome
    HSD17B10 99.97 0 HSD10 mitochondrial disease
    HSPG2 98.62 0 Dyssegmental dysplasia, Silverman-Handmaker type
    HUWE1 97.92 0 Mental retardation, X-linked syndromic, Turner type
    IARS1 99.32 0 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
    IARS2 99.11 0 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
    IDS 97.07 0 Mucopolysaccharidosis II
    IDUA 77.72 0 Mucopolysaccharidosis Ih/s
    IER3IP1 98.86 0 Microcephaly, epilepsy, and diabetes syndrome
    IFIH1 99.07 0 Aicardi-Goutieres syndrome 7
    IFT172 99.62 0 Short-rib thoracic dysplasia 10 with or without polydactyly
    IFT27 99.69 0 Bardet-Biedl syndrome 19
    IFT57 98.66 0 Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome
    IGF1 99.63 0 Growth retardation with deafness and mental retardation due to IGF1 deficiency
    IL1RAPL1 93.86 0 Mental retardation, X-linked 21/34
    INPP5E 98.14 0 Joubert syndrome 1
    INTU 98.49 0 Bruel et al., JMG 2017 : oro-facial-digital syndrome
    IQSEC2 97.05 0 Mental retardation, X-linked 1/78
    IRX5 89.09 0 Hamamy syndrome
    CRPPA 92.51 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
    ITGA7 99.67 0 Muscular dystrophy, congenital, due to ITGA7 deficiency
    ITPR1 99.38 0 Spinocerebellar ataxia 29, congenital nonprogressive
    JAM3 99.20 0 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
    KANSL1 99.63 0 Koolen-De Vries syndrome
    KAT6A 99.60 0 Mental retardation, autosomal dominant 32
    KAT6B 99.21 0 Genitopatellar syndrome
    KCNC1 99.05 0 Epilepsy, progressive myoclonic 7
    KCNC3 76.28 0 Spinocerebellar ataxia 13
    KCNH1 98.56 0 Temple-Baraitser syndrome
    KCNJ10 99.68 0 SESAME syndrome
    KCNJ11 99.69 0 Diabetes, permanent neonatal, with or without neurologic features
    KCNK9 99.67 0 Birk-Barel mental retardation dysmorphism syndrome
    KCNMA1 99.54 0 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
    KCNQ2 98.93 0 Epileptic encephalopathy, early infantile, 7
    KCNQ5 96.45 0 Mental retardation, autosomal dominant 46
    KCNT1 98.70 0 Epileptic encephalopathy, early infantile, 14
    KCTD7 95.20 0 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
    KDM1A 96.83 0 Cleft palate, psychomotor retardation, and distinctive facial features
    KDM5C 99.87 0 Mental retardation, X-linked, syndromic, Claes-Jensen type
    KDM6A 94.07 0 Kabuki syndrome 2
    KIAA0586 92.34 0 Joubert syndrome 23
    KIAA0753 99.23 0 Orofaciodigital syndrome XV
    NEXMIF 97.66 0 Mental retardation, X-linked 98
    KIF11 98.74 0 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
    KIF1A 99.66 0 Mental retardation, autosomal dominant 9
    KIFBP 96.44 0 Goldberg-Shprintzen megacolon syndrome
    KIF4A 99.41 0 Mental retardation, X-linked 100
    KIF5A 99.35 0 Myoclonus, intractable, neonatal
    KIF5C 96.19 0 Cortical dysplasia, complex, with other brain malformations 2
    KIF7 99.42 0 Joubert syndrome 12
    KIRREL3 99.66 0 Mental retardation, autosomal dominant 4
    KLC2 99.69 0 Spastic paraplegia, optic atrophy, and neuropathy
    KMT2A 97.93 0 Wiedemann-Steiner syndrome
    KMT2C 99.31 0 Kleefstra syndrome 2
    KMT2D 99.67 0 Kabuki syndrome 1
    KMT2E 98.54 0 Dong et al., Cell Rep 2014 : trouble du spectre autistique
    KMT5B 99.31 0 Stessman et al., Nat Genet 2017 : autisme et retard développemental
    KNL1 92.70 0 Microcephaly 4, primary, autosomal recessive
    KPTN 99.37 0 Mental retardation, autosomal recessive 41
    KRAS 99.32 0 Noonan syndrome 3
    L1CAM 99.66 0 CRASH syndrome
    L2HGDH 98.45 0 L-2-hydroxyglutaric aciduria
    LAMA1 99.13 0 Poretti-Boltshauser syndrome
    LAMA2 99.46 0 Muscular dystrophy, congenital, due to partial LAMA2 deficiency
    LAMB1 99.50 0 Lissencephaly 5
    LAMC3 97.99 0 Cortical malformations, occipital
    LAMP2 93.32 0 Danon disease
    LARGE1 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
    LARP7 97.40 0 Alazami syndrome
    LAS1L 99.76 0 Wilson-Turner syndrome
    LIAS 98.94 0 Hyperglycinemia, lactic acidosis, and seizures
    LIG4 99.55 0 LIG4 syndrome
    LINS1 98.65 0 Mental retardation, autosomal recessive 27
    LIPT1 98.69 0 Lipoyltransferase 1 deficiency
    LMBRD1 96.94 0 Methylmalonic aciduria and homocystinuria, cblF type
    LMNA 99.49 0 Emery-Dreifuss muscular dystrophy 3, AR
    LRP2 99.40 0 Donnai-Barrow syndrome
    LZTFL1 98.67 0 Bardet-Biedl syndrome 17
    LZTR1 99.56 0 Noonan syndrome 10
    MAGEL2 98.06 0 Schaaf-Yang syndrome
    MAN1B1 98.88 0 Mental retardation, autosomal recessive 15
    MAN2B1 99.40 0 Mannosidosis, alpha-, types I and II
    MANBA 99.01 0 Mannosidosis, beta
    MAOA 85.51 0 Brunner syndrome
    MAP2K1 99.62 0 Cardiofaciocutaneous syndrome 3
    MAP2K2 99.01 0 Cardiofaciocutaneous syndrome 4
    MASP1 99.59 0 3MC syndrome 1
    MAT1A 99.66 0 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
    MBD5 99.52 0 Mental retardation, autosomal dominant 1
    MBOAT7 99.50 0 Mental retardation, autosomal recessive 57
    MBTPS2 96.46 0 IFAP syndrome with or without BRESHECK syndrome
    MCCC1 99.50 0 3-Methylcrotonyl-CoA carboxylase 1 deficiency
    MCOLN1 93.43 0 Mucolipidosis IV
    MCPH1 98.40 0 Microcephaly 1, primary, autosomal recessive
    MECP2 89.77 0 Rett syndrome
    MED12 99.82 0 Opitz-Kaveggia syndrome
    MED13L 99.52 0 Mental retardation and distinctive facial features with or without cardiac defects
    MED17 98.79 0 Microcephaly, postnatal progressive, with seizures and brain atrophy
    MED23 98.87 0 Mental retardation, autosomal recessive 18
    MEF2C 99.52 0 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
    MEIS2 99.65 0 Cleft palate, cardiac defects, and mental retardation
    METTL23 99.62 0 Mental retardation, autosomal recessive 44
    MFSD8 99.30 0 Ceroid lipofuscinosis, neuronal, 7
    MID1 97.46 0 Opitz GBBB syndrome, type I
    MKKS 99.58 0 Bardet-Biedl syndrome 6
    MKS1 99.54 0 Bardet-Biedl syndrome 13
    MLYCD 87.33 0 Malonyl-CoA decarboxylase deficiency
    MMACHC 99.68 0 Methylmalonic aciduria and homocystinuria, cblC type
    MOCS1 99.68 0 Molybdenum cofactor deficiency A
    MOCS2 99.48 0 Molybdenum cofactor deficiency B
    MOGS 92.25 0 Congenital disorder of glycosylation, type IIb
    MPDU1 99.69 0 Congenital disorder of glycosylation, type If
    MPDZ 99.22 0 Hydrocephalus, nonsyndromic, autosomal recessive 2
    MPLKIP 99.63 0 Trichothiodystrophy 4, nonphotosensitive
    MTFMT 97.00 0 Combined oxidative phosphorylation deficiency 15
    MTHFR 99.58 0 Homocystinuria due to MTHFR deficiency
    MTM1 94.11 0 Myotubular myopathy, X-linked
    MTOR 99.61 0 Smith-Kingsmore syndrome
    MTR 99.55 0 Homocystinuria-megaloblastic anemia, cblG complementation type
    MTRR 99.33 0 Homocystinuria-megaloblastic anemia, cbl E type
    MVK 99.69 0 Mevalonic aciduria
    MYCN 82.91 0 Feingold syndrome 1
    MYO5A 97.60 0 Griscelli syndrome, type 1
    MYT1L 99.59 0 Mental retardation, autosomal dominant 39
    NAA10 87.47 0 Ogden syndrome
    NACC1 99.66 0 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
    NAGA 99.67 0 Schindler disease, type I
    NAGLU 84.28 0 Mucopolysaccharidosis type IIIB (Sanfilippo B)
    NALCN 99.38 0 Congenital contractures of the limbs and face, hypotonia, and developmental delay
    NARS2 98.96 0 Combined oxidative phosphorylation deficiency 24
    NBN 98.67 0 Nijmegen breakage syndrome
    NDE1 99.69 0 Lissencephaly 4 (with microcephaly)
    NDP 99.56 0 Norrie disease
    NDST1 99.67 0 Mental retardation, autosomal recessive 46
    NDUFA1 97.69 0 Mitochondrial complex I deficiency
    NDUFA11 99.69 0 Mitochondrial complex I deficiency
    NDUFA12 99.64 0 Leigh syndrome due to mitochondrial complex 1 deficiency
    NDUFA2 99.69 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFA9 99.27 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFAF6 89.55 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFS2 99.25 0 Mitochondrial complex I deficiency
    NDUFS3 99.67 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFS4 99.05 0 Mitochondrial complex I deficiency
    NDUFS7 99.38 0 Leigh syndrome
    NEDD4L 98.92 0 Periventricular nodular heterotopia 7
    NFIA 99.44 0 Brain malformations and urinary tract defects
    NFIX 99.64 0 Sotos syndrome 2
    NGF 99.66 0 Neuropathy, hereditary sensory and autonomic, type V
    NHEJ1 99.67 0 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
    NHP2 99.64 0 Dyskeratosis congenita, autosomal recessive 2
    NHS 88.25 0 Nance-Horan syndrome
    NIN 99.20 0 Seckel syndrome 7
    NIPBL 98.53 0 Cornelia de Lange syndrome 1
    NKX2-1 92.05 0 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
    NONO 98.37 0 Mental retardation, X-linked, syndromic 34
    NOTCH1 96.74 0 Adams-Oliver syndrome 5
    NPC1 98.34 0 Niemann-Pick disease, type C1
    NPC2 99.67 0 Niemann-pick disease, type C2
    NPHP1 99.24 0 Joubert syndrome 4
    NPHP3 98.15 0 Meckel syndrome 7
    NR2F1 86.66 0 Bosch-Boonstra-Schaaf optic atrophy syndrome
    NR5A1 99.25 0 Adrenocortical insufficiency
    NRAS 99.61 0 Noonan syndrome 6
    NRXN1 99.52 0 Pitt-Hopkins-like syndrome 2
    NSD1 99.26 0 Sotos syndrome 1
    NSDHL 99.39 0 CHILD syndrome
    NSUN2 95.86 0 Mental retardation, autosomal recessive 5
    OCLN 99.47 0 Pseudo-TORCH syndrome 1
    OCRL 92.17 0 Lowe syndrome
    OFD1 92.99 0 Orofaciodigital syndrome I
    OGT 96.41 0 Mental retardation, X-linked 106
    OPHN1 90.64 0 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
    ORC1 99.49 0 Meier-Gorlin syndrome 1
    ORC4 98.60 0 Meier-Gorlin syndrome 2
    ORC6 98.10 0 Meier-Gorlin syndrome 3
    OSGEP 99.65 0 Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome
    OTC 92.10 0 Ornithine transcarbamylase deficiency
    OTUD6B 97.03 0 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
    PACS1 97.17 0 Schuurs-Hoeijmakers syndrome
    PAFAH1B1 98.98 0 Lissencephaly 1
    PAH 99.66 0 Phenylketonuria
    PAK3 87.10 0 Mental retardation, X-linked 30/47
    PANK2 95.75 0 Neurodegeneration with brain iron accumulation 1
    PAX1 82.57 0 Otofaciocervical syndrome 2
    PAX3 99.68 0 Craniofacial-deafness-hand syndrome
    PAX6 99.51 0 Aniridia
    PC 99.69 0 Pyruvate carboxylase deficiency
    PCDH19 99.22 0 Epileptic encephalopathy, early infantile, 9
    PCGF2 99.69 0 Fitzgerald et al., Nature 2015 : retard mental, retard dévelopemental
    PCNT 99.50 0 Microcephalic osteodysplastic primordial dwarfism, type II
    PDE4D 97.76 0 Acrodysostosis 2, with or without hormone resistance
    PDHA1 97.16 0 Pyruvate dehydrogenase E1-alpha deficiency
    PDHB 99.40 0 Pyruvate dehydrogenase E1-beta deficiency
    PDHX 98.49 0 Lacticacidemia due to PDX1 deficiency
    PDSS1 82.84 0 Coenzyme Q10 deficiency, primary, 2
    PDSS2 98.95 0 Coenzyme Q10 deficiency, primary, 3
    PEPD 99.61 0 Prolidase deficiency
    PEX1 98.83 0 Peroxisome biogenesis disorder 1A (Zellweger)
    PEX10 83.86 0 Peroxisome biogenesis disorder 6A (Zellweger)
    PEX11B 99.63 0 Peroxisome biogenesis disorder 14B
    PEX12 99.40 0 Peroxisome biogenesis disorder 3A (Zellweger)
    PEX13 99.25 0 Peroxisome biogenesis disorder 11A (Zellweger)
    PEX14 99.66 0 Peroxisome biogenesis disorder 13A (Zellweger)
    PEX16 99.69 0 Peroxisome biogenesis disorder 8A (Zellweger)
    PEX19 99.60 0 Peroxisome biogenesis disorder 12A (Zellweger)
    PEX2 99.69 0 Peroxisome biogenesis disorder 5A (Zellweger)
    PEX26 96.96 0 Peroxisome biogenesis disorder 7A (Zellweger)
    PEX3 98.89 0 Peroxisome biogenesis disorder 10A (Zellweger)
    PEX5 99.15 0 Peroxisome biogenesis disorder 2A (Zellweger)
    PEX6 98.57 0 Peroxisome biogenesis disorder 4A (Zellweger)
    PEX7 90.36 0 Peroxisome biogenesis disorder 9B
    PGAP1 97.25 0 Mental retardation, autosomal recessive 42
    PGAP2 99.68 0 Hyperphosphatasia with mental retardation syndrome 3
    PGAP3 99.15 0 Hyperphosphatasia with mental retardation syndrome 4
    PGK1 99.16 0 Phosphoglycerate kinase 1 deficiency
    PHC1 99.66 0 Microcephaly 11, primary, autosomal recessive
    PHF6 84.23 0 Borjeson-Forssman-Lehmann syndrome
    PHF8 99.04 0 Mental retardation syndrome, X-linked, Siderius type
    PHGDH 99.67 0 Phosphoglycerate dehydrogenase deficiency
    PHIP 95.93 0 Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obésité et dysmorphies
    PIGA 92.30 0 Multiple congenital anomalies-hypotonia-seizures syndrome 2
    PIGG 99.54 0 Mental retardation, autosomal recessive 53
    PIGL 99.59 0 CHIME syndrome
    PIGN 97.78 0 Multiple congenital anomalies-hypotonia-seizures syndrome 1
    PIGO 99.67 0 Hyperphosphatasia with mental retardation syndrome 2
    PIGT 99.63 0 Multiple congenital anomalies-hypotonia-seizures syndrome 3
    PIGV 99.66 0 Hyperphosphatasia with mental retardation syndrome 1
    PIGW 99.68 0 Hyperphosphatasia with mental retardation syndrome 5
    PIGY 99.66 0 Hyperphosphatasia with mental retardation syndrome 6
    PIK3R2 91.70 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
    PLA2G6 99.69 0 Neurodegeneration with brain iron accumulation 2B
    PLCB1 99.15 0 Epileptic encephalopathy, early infantile, 12
    PLCB4 99.09 0 Auriculocondylar syndrome 2
    PLOD1 98.58 0 Ehlers-Danlos syndrome, type VI
    PLP1 99.86 0 Pelizaeus-Merzbacher disease
    PMM2 98.47 0 Congenital disorder of glycosylation, type Ia
    PNKP 99.68 0 Microcephaly, seizures, and developmental delay
    PNP 99.66 0 Immunodeficiency due to purine nucleoside phosphorylase deficiency
    POC1A 99.26 0 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
    POGZ 98.81 0 White-Sutton syndrome
    POLG 99.59 0 Mitochondrial DNA depletion syndrome 4B (MNGIE type)
    POLH 99.55 0 Xeroderma pigmentosum, variant type
    POLR3A 99.40 0 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
    POLR3B 99.29 0 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
    POMGNT1 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
    POMGNT2 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
    POMK 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
    POMT1 99.56 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
    POMT2 98.42 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
    PORCN 99.91 0 Focal dermal hypoplasia
    PPM1D 98.20 0 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
    PPP1CB 99.40 0 Noonan syndrome-like disorder with loose anagen hair 2
    PPP2R1A 99.69 0 Mental retardation, autosomal dominant 36
    PPP2R5D 99.64 0 Mental retardation, autosomal dominant 35
    PPT1 99.67 0 Ceroid lipofuscinosis, neuronal, 1
    PQBP1 99.90 0 Renpenning syndrome
    PRICKLE1 99.67 0 Epilepsy, progressive myoclonic 1B
    PRMT7 99.21 0 Short stature, brachydactyly, intellectual developmental disability, and seizures
    PRPS1 98.61 0 Arts syndrome
    PRSS12 98.69 0 Mental retardation, autosomal recessive 1
    PSAP 99.68 0 Krabbe disease, atypical
    PSMD12 99.44 0 Stankiewicz-Isidor syndrome
    PTCH1 97.64 0 Holoprosencephaly 7
    PTCHD1 99.37 0 Autism, susceptibility to, X-linked 4
    PTDSS1 99.56 0 Lenz-Majewski hyperostotic dwarfism
    PTEN 98.68 0 Cowden syndrome 1
    PTPN11 97.30 0 LEOPARD syndrome 1
    PUF60 99.56 0 Verheij syndrome
    PURA 84.89 0 Mental retardation, autosomal dominant 31
    PUS1 93.31 0 Myopathy, lactic acidosis, and sideroblastic anemia 1
    PYCR1 99.67 0 Cutis laxa, autosomal recessive, type IIB
    QDPR 96.67 0 Hyperphenylalaninemia, BH4-deficient, C
    RAB18 98.43 0 Warburg micro syndrome 3
    RAB27A 95.80 0 Griscelli syndrome, type 2
    RAB39B 99.96 0 Mental retardation, X-linked 72
    RAB3GAP1 99.24 0 Warburg micro syndrome 1
    RAB3GAP2 99.14 0 Martsolf syndrome
    RAC1 87.43 0 Mental retardation, autosomal dominant 48
    RAD21 99.34 0 Cornelia de Lange syndrome 4
    RAF1 99.65 0 Noonan syndrome 5
    RAI1 97.85 0 Smith-Magenis syndrome
    RARB 99.52 0 Microphthalmia, syndromic 12
    RARS2 99.20 0 Pontocerebellar hypoplasia, type 6
    RASA2 95.15 0 Aoki et al., JHG 2016 : RASopathie
    RAX 78.51 0 Microphthalmia, isolated 3
    RBBP8 96.69 0 Seckel syndrome 2
    RBM10 99.86 0 TARP syndrome
    RBM28 99.55 0 Alopecia, neurologic defects, and endocrinopathy syndrome
    RBM8A 99.68 0 Thrombocytopenia-absent radius syndrome
    RBPJ 99.36 0 Adams-Oliver syndrome 3
    RECQL4 91.13 0 Baller-Gerold syndrome
    RELN 99.47 0 Lissencephaly 2 (Norman-Roberts type)
    RERE 99.45 0 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
    RFT1 97.48 0 Congenital disorder of glycosylation, type In
    RIT1 99.66 0 Noonan syndrome 8
    RMND1 98.79 0 Combined oxidative phosphorylation deficiency 11
    RNASEH2A 99.69 0 Aicardi-Goutieres syndrome 4
    RNASEH2B 90.13 0 Aicardi-Goutieres syndrome 2
    RNASEH2C 96.74 0 Aicardi-Goutieres syndrome 3
    RNASET2 99.45 0 Leukoencephalopathy, cystic, without megalencephaly
    RNF113A 99.85 0 Trichothiodystrophy 5, nonphotosensitive
    ROGDI 90.00 0 Kohlschutter-Tonz syndrome
    RPGRIP1L 95.44 0 Joubert syndrome 7
    RPIA 98.01 0 Ribose 5-phosphate isomerase deficiency
    RPS6KA3 85.79 0 Coffin-Lowry syndrome
    RRAS 94.39 0 Flex et al., HMG 2014 : RASopathie
    RTEL1 99.69 0 Dyskeratosis congenita, autosomal recessive 5
    RTTN 98.71 0 Microcephaly, short stature, and polymicrogyria with seizures
    SALL1 99.68 0 Townes-Brocks branchiootorenal-like syndrome
    SAMHD1 99.47 0 Aicardi-Goutieres syndrome 5
    SATB2 99.46 0 Glass syndrome
    SC5D 99.08 0 Lathosterolosis
    SCN1A 98.95 0 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
    SCN2A 98.85 0 Epileptic encephalopathy, early infantile, 11
    SCN8A 99.37 0 Epileptic encephalopathy, early infantile, 13
    SCO2 99.68 0 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
    SDCCAG8 99.19 0 Bardet-Biedl syndrome 16
    SDHAF1 66.11 0 Mitochondrial complex II deficiency
    SEPSECS 99.07 0 Pontocerebellar hypoplasia type 2D
    SERAC1 98.98 0 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
    SETBP1 98.39 0 Mental retardation, autosomal dominant 29
    SETD2 99.30 0 Luscan-Lumish syndrome
    SETD5 99.55 0 Mental retardation, autosomal dominant 23
    SGSH 96.47 0 Mucopolysaccharidosis type IIIA (Sanfilippo A)
    SHANK2 83.77 0 Autism susceptibility 17
    SHANK3 78.63 0 Phelan-McDermid syndrome
    SHH 90.25 0 Holoprosencephaly 3
    SHOC2 97.89 0 Noonan-like syndrome with loose anagen hair
    SHROOM4 99.52 0 Stocco dos Santos X-linked mental retardation syndrome
    SIL1 99.65 0 Marinesco-Sjogren syndrome
    SIN3A 99.56 0 Witteveen-Kolk syndrome
    SIX3 89.54 0 Holoprosencephaly 2
    SKI 93.23 0 Shprintzen-Goldberg syndrome
    SLC12A6 99.13 0 Agenesis of the corpus callosum with peripheral neuropathy
    SLC16A2 99.71 0 Allan-Herndon-Dudley syndrome
    SLC17A5 98.53 0 Salla disease
    SLC19A3 99.50 0 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
    SLC1A4 97.40 0 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
    SLC25A1 86.05 0 Combined D-2- and L-2-hydroxyglutaric aciduria
    SLC25A12 99.45 0 Epileptic encephalopathy, early infantile, 39
    SLC25A15 99.57 0 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
    SLC25A19 99.66 0 Microcephaly, Amish type
    SLC25A22 99.68 0 Epileptic encephalopathy, early infantile, 3
    SLC2A1 93.34 0 GLUT1 deficiency syndrome 1, infantile onset, severe
    SLC33A1 98.70 0 Congenital cataracts, hearing loss, and neurodegeneration
    SLC35A2 99.98 0 Congenital disorder of glycosylation, type IIm
    SLC35C1 99.69 0 Congenital disorder of glycosylation, type IIc
    SLC45A1 92.61 0 Intellectual developmental disorder with neuropsychiatric features
    SLC46A1 97.75 0 Folate malabsorption, hereditary
    SLC4A4 99.23 0 Renal tubular acidosis, proximal, with ocular abnormalities
    SLC6A1 99.61 0 Myoclonic-atonic epilepsy
    SLC6A17 99.68 0 Mental retardation, autosomal recessive 48
    SLC6A3 99.68 0 Parkinsonism-dystonia, infantile
    SLC6A8 92.97 0 Cerebral creatine deficiency syndrome 1
    SLC7A7 99.67 0 Lysinuric protein intolerance
    SLC9A6 80.47 0 Mental retardation, X-linked syndromic, Christianson type
    SMARCA2 97.63 0 Nicolaides-Baraitser syndrome
    SMARCA4 99.68 0 Coffin-Siris syndrome 4
    SMARCB1 99.47 0 Coffin-Siris syndrome 3
    SMARCE1 98.87 0 Coffin-Siris syndrome 5
    SMC1A 97.41 0 Cornelia de Lange syndrome 2
    SMC3 98.62 0 Cornelia de Lange syndrome 3
    SMOC1 98.99 0 Microphthalmia with limb anomalies
    SMPD1 99.68 0 Niemann-Pick disease, type A
    SMS 83.70 0 Mental retardation, X-linked, Snyder-Robinson type
    SNAP29 98.97 0 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
    SNIP1 99.59 0 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
    SNX14 97.83 0 Spinocerebellar ataxia, autosomal recessive 20
    SOBP 96.13 0 Mental retardation, anterior maxillary protrusion, and strabismus
    SON 99.42 0 ZTTK syndrome
    SOS1 98.22 0 Noonan syndrome 4
    SOS2 98.32 0 Noonan syndrome 9
    SOX10 93.26 0 Waardenburg syndrome, type 2E, with or without neurologic involvement
    SOX11 84.37 0 Mental retardation, autosomal dominant, 27
    SOX2 95.94 0 Optic nerve hypoplasia and abnormalities of the central nervous system
    SOX5 99.56 0 Lamb-Shaffer syndrome
    AFG2A 98.88 0 Epilepsy, hearing loss, and mental retardation syndrome
    SPECC1L 99.49 0 Opitz GBBB syndrome, type II
    SPR 77.10 0 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
    SPRED1 99.22 0 Legius syndrome
    SPTAN1 99.48 0 Epileptic encephalopathy, early infantile, 5
    SRCAP 99.65 0 Floating-Harbor syndrome
    SRD5A3 96.86 0 Congenital disorder of glycosylation, type Iq
    ST3GAL3 99.66 0 Mental retardation, autosomal recessive 12
    ST3GAL5 85.32 0 Salt and pepper developmental regression syndrome
    STAG1 98.01 0 Mental retardation, autosomal dominant 47
    STAMBP 99.58 0 Microcephaly-capillary malformation syndrome
    STIL 99.24 0 Microcephaly 7, primary, autosomal recessive
    STRA6 99.67 0 Microphthalmia, syndromic 9
    STT3A 99.55 0 Congenital disorder of glycosylation, type Iw
    STT3B 95.54 0 Congenital disorder of glycosylation, type Ix
    STX1B 99.68 0 Generalized epilepsy with febrile seizures plus, type 9
    STXBP1 99.55 0 Epileptic encephalopathy, early infantile, 4
    SUCLG1 98.06 0 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
    SUOX 99.68 0 Sulfite oxidase deficiency
    SURF1 86.96 0 Leigh syndrome, due to COX IV deficiency
    SYN1 88.25 0 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
    SYNCRIP 99.45 0 Lelieveld et al., Nat Neurosci 2016 : ID
    SYNE1 99.44 0 Spinocerebellar ataxia, autosomal recessive 8
    SYNGAP1 99.68 0 Mental retardation, autosomal dominant 5
    SYP 93.14 0 Mental retardation, X-linked 96
    SYT14 88.69 0 Spinocerebellar ataxia, autosomal recessive 11
    TAF1 97.05 0 Mental retardation, X-linked, syndromic 33
    TAF2 98.57 0 Mental retardation, autosomal recessive 40
    TBC1D23 97.70 0 Pontocerebellar hypoplasia, type 11
    TBC1D24 99.68 0 Epileptic encephalopathy, early infantile, 16
    TBC1D7 98.94 0 Macrocephaly/megalencephaly syndrome, autosomal recessive
    TBCE 98.41 0 Hypoparathyroidism-retardation-dysmorphism syndrome
    TBCK 98.05 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
    TBL1XR1 98.00 0 Mental retardation, autosomal dominant 41
    TCF20 99.69 0 Schäfgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie
    TCF4 99.65 0 Pitt-Hopkins syndrome
    TCOF1 99.61 0 Treacher Collins syndrome 1
    TCTN1 99.08 0 Joubert syndrome 13
    TCTN2 99.05 0 Joubert syndrome 24
    TCTN3 99.61 0 Joubert syndrome 18
    TECPR2 99.41 0 Spastic paraplegia 49, autosomal recessive
    TECR 99.69 0 Mental retardation, autosomal recessive 14
    TFAP2A 99.48 0 Branchiooculofacial syndrome
    TGIF1 99.69 0 Holoprosencephaly 4
    TH 98.57 0 Segawa syndrome, recessive
    THOC2 91.08 0 Mental retardation, X-linked 12/35
    THOC6 99.66 0 Beaulieu-Boycott-Innes syndrome
    THRA 99.60 0 Hypothyroidism, congenital, nongoitrous, 6
    TIMM8A 99.66 0 Mohr-Tranebjaerg syndrome
    TINF2 99.67 0 Dyskeratosis congenita, autosomal dominant 3
    TMCO1 95.48 0 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
    TMEM107 99.69 0 Orofaciodigital syndrome XVI
    TMEM138 99.68 0 Joubert syndrome 16
    TMEM165 87.14 0 Congenital disorder of glycosylation, type IIk
    TMEM216 99.69 0 Joubert syndrome 2
    TMEM231 99.62 0 Joubert syndrome 20
    TMEM237 97.88 0 Joubert syndrome 14
    TMEM67 97.57 0 Joubert syndrome 6
    TMEM70 97.01 0 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
    TNK2 99.30 0 Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID
    TPK1 98.92 0 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
    TPP1 99.65 0 Spinocerebellar ataxia, autosomal recessive 7
    TRAPPC11 98.70 0 Muscular dystrophy, limb-girdle, type 2S
    TRAPPC9 99.57 0 Mental retardation, autosomal recessive 13
    TREX1 99.69 0 Aicardi-Goutieres syndrome 1, dominant and recessive
    TRIM32 99.68 0 Bardet-Biedl syndrome 11
    TRIO 97.17 0 Mental retardation, autosomal dominant 44
    TRIP12 99.18 0 Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
    TRMT10A 99.08 0 Microcephaly, short stature, and impaired glucose metabolism 1
    TRMU 94.99 0 Liver failure, transient infantile
    TRPV4 99.64 0 Spondylometaphyseal dysplasia, Kozlowski type
    TSEN2 99.60 0 Pontocerebellar hypoplasia type 2B
    TSEN54 87.28 0 Pontocerebellar hypoplasia type 2A
    TSFM 85.15 0 Combined oxidative phosphorylation deficiency 3
    TSPAN7 98.69 0 Mental retardation, X-linked 58
    SKIC3 99.17 0 Trichohepatoenteric syndrome 1
    TTC8 98.67 0 Bardet-Biedl syndrome 8
    TTI2 99.57 0 Mental retardation, autosomal recessive 39
    TUBA1A 99.69 0 Lissencephaly 3
    TUBA8 97.24 0 Cortical dysplasia, complex, with other brain malformations 8
    TUBB2A 95.11 0 Cortical dysplasia, complex, with other brain malformations 5
    TUBB2B 99.68 0 Cortical dysplasia, complex, with other brain malformations 7
    TUBB3 94.69 0 Cortical dysplasia, complex, with other brain malformations 1
    TUBB4A 98.34 0 Leukodystrophy, hypomyelinating, 6
    TUBG1 99.69 0 Cortical dysplasia, complex, with other brain malformations 4
    TUBGCP6 99.69 0 Microcephaly and chorioretinopathy, autosomal recessive, 1
    TUSC3 99.45 0 Mental retardation, autosomal recessive 7
    TWIST1 59.51 0 Saethre-Chotzen syndrome
    UBE2A 81.32 0 Mental retardation, X-linked syndromic, Nascimento-type
    UBE3A 98.84 0 Angelman syndrome
    UBE3B 99.43 0 Kaufman oculocerebrofacial syndrome
    UBR1 98.99 0 Johanson-Blizzard syndrome
    UNC80 99.46 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
    UPF3B 90.82 0 Mental retardation, X-linked, syndromic 14
    UQCRQ 99.62 0 Mitochondrial complex III deficiency, nuclear type 4
    UROC1 99.69 0 Urocanase deficiency
    USP18 99.69 0 Pseudo-TORCH syndrome 2
    USP9X 93.59 0 Mental retardation, X-linked 99
    VLDLR 97.10 0 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
    VPS13B 98.95 0 Cohen syndrome
    VRK1 99.08 0 Pontocerebellar hypoplasia type 1A
    WAC 97.24 0 Desanto-Shinawi syndrome
    WDPCP 98.77 0 Bardet-Biedl syndrome 15
    WDR26 99.46 0 Skraban-Deardorff syndrome
    WDR45 99.94 0 Neurodegeneration with brain iron accumulation 5
    WDR45B 98.84 0 Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia
    WDR62 99.58 0 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
    WDR73 99.54 0 Galloway-Mowat syndrome
    WDR81 99.65 0 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
    WWOX 99.63 0 Epileptic encephalopathy, early infantile, 28
    XPA 95.49 0 Xeroderma pigmentosum, group A
    XPC 99.66 0 Xeroderma pigmentosum, group C
    XYLT1 91.40 0 Desbuquois dysplasia 2
    YAP1 95.59 0 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
    YY1 97.61 0 Gabriele-de Vries syndrome
    ZBTB16 99.69 0 Skeletal defects, genital hypoplasia, and mental retardation
    ZBTB18 99.10 0 Mental retardation, autosomal dominant 22
    ZBTB20 99.63 0 Primrose syndrome
    ZBTB24 99.63 0 Immunodeficiency-centromeric instability-facial anomalies syndrome-2
    ZC4H2 97.81 0 Wieacker-Wolff syndrome
    ZDHHC9 98.90 0 Mental retardation, X-linked syndromic, Raymond type
    ZEB2 99.54 0 Mowat-Wilson syndrome
    ZFYVE26 99.53 0 Spastic paraplegia 15, autosomal recessive
    ZIC2 67.20 0 Holoprosencephaly 5
    ZMPSTE24 98.68 0 Mandibuloacral dysplasia with type B lipodystrophy
    ZMYND11 99.50 0 Mental retardation, autosomal dominant 30
    ZNF335 99.63 0 Microcephaly 10, primary, autosomal recessive
    ZNF41 99.90 0 Shoichet et al., AJHG 2013 : X-Linked Mental Retardation
    ZNF711 89.61 0 Mental retardation, X-linked 97
  • Kabuki (7 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    KMT2D 100.00 1
    KDM6A 100.00 1
    KMT2A 100.00 1
    HNRNPK 100.00 1
    RAP1A 100.00 1
    RAP1B 100.00 1
    PACS1 10.00 0 EXON 4
  • Microphthalmia/Anophthalmia/Coloboma - Anterior Segment Dysgenesis - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB6 99.97 1
    ACTB 100.00 1
    ACTG1 100.00 1
    ADAMTS17 99.99 1
    ADAMTS18 99.99 1
    ALDH1A3 99.96 1
    ASPH 99.92 1
    ATOH7 100.00 1
    B3GLCT 99.90 1
    BCOR 99.97 1
    BMP4 100.00 1
    BMP7 100.00 1
    C12ORF57 100.00 1
    CAPN15 99.98 1
    CC2D2A 99.95 1
    CDH2 99.84 1
    CDON 99.99 1
    CHD7 99.99 1
    CHRDL1 99.94 1
    CLDN19 99.02 1
    COL4A1 99.99 1
    COX7B 99.86 1
    CPAMD8 99.97 1
    CRIM1 99.99 1
    CRYBA4 100.00 1
    CYP1B1 100.00 1
    DYRK1A 99.98 1
    ERCC1 99.96 1
    ERCC2 99.98 1
    ERCC5 99.99 1
    ERCC6 99.60 1
    EYA1 99.81 1
    FOXC1 100.00 1
    FOXE3 99.29 1
    FOXL2 99.97 1
    FRAS1 99.97 1
    FREM1 99.98 1
    FREM2 99.97 1
    FZD5 100.00 1
    GDF3 100.00 1
    GDF6 100.00 1
    GJA1 100.00 1
    GRIP1 99.83 1
    HCCS 99.90 1
    HESX1 99.77 1
    HMGB3 0.00 1
    HMX1 100.00 1
    IGBP1 99.90 1
    KDM6A 99.74 1
    KIF26B 100.00 1
    KMT2D 99.98 1
    LRP2 99.86 1
    LTBP2 99.97 1
    MAB21L2 100.00 1
    MFRP 100.00 1
    MICU1 99.56 1
    MITF 99.98 1
    MYRF 99.98 1
    NAA10 99.99 1
    NDP 99.98 1
    NHS 99.96 1
    OCRL 99.89 1
    OTX2 100.00 1
    PAX2 99.99 1
    PAX6 99.95 1
    PIGL 99.98 1
    PITX2 99.98 1
    PITX3 100.00 1
    PORCN 99.93 1
    PQBP1 99.99 1
    PRSS56 100.00 1
    PTCH1 99.99 1
    PUF60 100.00 1
    PXDN 100.00 1
    RAB18 99.76 1
    RAB3GAP1 99.73 1
    RAB3GAP2 99.69 1
    RARB 99.99 1
    PRKRA 100.00 1
    RBP4 99.99 1
    RPGRIP1L 96.35 1
    SALL2 100.00 1
    SALL4 100.00 1
    SHH 100.00 1
    SIX3 100.00 1
    SIX6 100.00 1
    SLC38A8 99.99 1
    SMCHD1 99.83 1
    SMOC1 100.00 1
    SOX2 100.00 1
    STRA6 99.95 1
    TBC1D20 100.00 1
    TENM3 99.99 1
    TFAP2A 100.00 1
    TMEM67 99.69 1
    TMEM98 100.00 1
    VAX1 100.00 1
    VSX1 99.93 1
    VSX2 99.99 1
    WDR37 99.94 1
    YAP1 99.87 1
    ZIC2 100.00 1
  • Neurodevelopmental disorders (1300 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 100.00 0 Neurodevelopmental disorders
    ABCC6 99.95 0 Neurodevelopmental disorders
    ABCC9 99.93 0 Neurodevelopmental disorders
    ABCD1 97.56 0 Neurodevelopmental disorders
    ABCD4 100.00 0 Neurodevelopmental disorders
    ABCG5 99.99 0 Neurodevelopmental disorders
    ABHD5 99.85 0 Neurodevelopmental disorders
    ABI2 100.00 0 Neurodevelopmental disorders
    ACAD9 100.00 0 Neurodevelopmental disorders
    ACAT1 93.45 0 Neurodevelopmental disorders
    ACO2 100.00 0 Neurodevelopmental disorders
    ACOX1 100.00 0 Neurodevelopmental disorders
    ACSF3 99.86 0 Neurodevelopmental disorders
    ACSL4 99.98 0 Neurodevelopmental disorders
    ACTB 100.00 0 Neurodevelopmental disorders
    ACTG1 100.00 0 Neurodevelopmental disorders
    ACVR1 100.00 0 Neurodevelopmental disorders
    ACY1 100.00 0 Neurodevelopmental disorders
    ADAR 100.00 0 Neurodevelopmental disorders
    ADAT3 99.45 0 Neurodevelopmental disorders
    COQ8A 99.92 0 Neurodevelopmental disorders
    ADCY5 99.17 0 Neurodevelopmental disorders
    ADK 100.00 0 Neurodevelopmental disorders
    ADNP 100.00 0 Neurodevelopmental disorders
    ADORA1 100.00 0 Neurodevelopmental disorders
    ADRA2B 100.00 0 Neurodevelopmental disorders
    ADSL 100.00 0 Neurodevelopmental disorders
    AFF2 99.91 0 Neurodevelopmental disorders
    AFF3 100.00 0 Neurodevelopmental disorders
    AFP 100.00 0 Neurodevelopmental disorders
    AGA 100.00 0 Neurodevelopmental disorders
    AGAP2 98.60 0 Neurodevelopmental disorders
    AGBL4 100.00 0 Neurodevelopmental disorders
    AGL 100.00 0 Neurodevelopmental disorders
    AGPAT2 93.10 0 Neurodevelopmental disorders
    AGXT 100.00 0 Neurodevelopmental disorders
    AGTR2 100.00 0 Neurodevelopmental disorders
    AHCY 100.00 0 Neurodevelopmental disorders
    AHDC1 99.99 0 Neurodevelopmental disorders
    AHI1 100.00 0 Neurodevelopmental disorders
    AIFM1 99.98 0 Neurodevelopmental disorders
    AIMP1 99.97 0 Neurodevelopmental disorders
    AIMP2 96.68 0 Neurodevelopmental disorders
    AK1 100.00 0 Neurodevelopmental disorders
    AKT1 100.00 0 Neurodevelopmental disorders
    AKT3 100.00 0 Neurodevelopmental disorders
    ALDH18A1 100.00 0 Neurodevelopmental disorders
    ALDH3A2 99.94 0 Neurodevelopmental disorders
    ALDH4A1 96.50 0 Neurodevelopmental disorders
    ALDH5A1 84.13 0 Neurodevelopmental disorders
    ALG1 78.28 0 Neurodevelopmental disorders
    ALG11 100.00 0 Neurodevelopmental disorders
    ALG12 100.00 0 Neurodevelopmental disorders
    ALG13 99.53 0 Neurodevelopmental disorders
    ALG2 99.83 0 Neurodevelopmental disorders
    ALG3 93.20 0 Neurodevelopmental disorders
    ALG6 100.00 0 Neurodevelopmental disorders
    ALG9 98.18 0 Neurodevelopmental disorders
    ALX1 100.00 0 Neurodevelopmental disorders
    ALX4 98.04 0 Neurodevelopmental disorders
    AMER1 99.97 0 Neurodevelopmental disorders
    AMPD2 99.90 0 Neurodevelopmental disorders
    AMT 100.00 0 Neurodevelopmental disorders
    ANK2 99.99 0 Neurodevelopmental disorders
    ANK3 100.00 0 Neurodevelopmental disorders
    ANKH 100.00 0 Neurodevelopmental disorders
    ANKRD11 100.00 0 Neurodevelopmental disorders
    ANO10 100.00 0 Neurodevelopmental disorders
    ANO3 100.00 0 Neurodevelopmental disorders
    ANO5 100.00 0 Neurodevelopmental disorders
    ANTXR1 99.97 0 Neurodevelopmental disorders
    AP1S1 100.00 0 Neurodevelopmental disorders
    AP1S2 100.00 0 Neurodevelopmental disorders
    AP3B1 100.00 0 Neurodevelopmental disorders
    AP4B1 100.00 0 Neurodevelopmental disorders
    AP4E1 99.99 0 Neurodevelopmental disorders
    AP4M1 100.00 0 Neurodevelopmental disorders
    AP4S1 100.00 0 Neurodevelopmental disorders
    APAF1 100.00 0 Neurodevelopmental disorders
    APC 100.00 0 Neurodevelopmental disorders
    APOB 98.90 0 Neurodevelopmental disorders
    APTX 99.96 0 Neurodevelopmental disorders
    AQP7 99.59 0 Neurodevelopmental disorders
    AR 100.00 0 Neurodevelopmental disorders
    ARFGEF2 100.00 0 Neurodevelopmental disorders
    ARG1 100.00 0 Neurodevelopmental disorders
    ARHGAP11A 100.00 0 Neurodevelopmental disorders
    ARHGAP24 99.97 0 Neurodevelopmental disorders
    ARHGEF2 100.00 0 Neurodevelopmental disorders
    ARHGEF4 99.85 0 Neurodevelopmental disorders
    ARHGEF6 100.00 0 Neurodevelopmental disorders
    ARHGEF9 99.92 0 Neurodevelopmental disorders
    ARID1A 97.21 0 Neurodevelopmental disorders
    ARID1B 98.17 0 Neurodevelopmental disorders
    ARL13B 99.98 0 Neurodevelopmental disorders
    ARL3 99.80 0 Neurodevelopmental disorders
    ARL6 100.00 0 Neurodevelopmental disorders
    ARMC9 100.00 0 Neurodevelopmental disorders
    ARSL 99.92 0 Neurodevelopmental disorders
    ARX 88.86 0 Neurodevelopmental disorders
    ASH1L 100.00 0 Neurodevelopmental disorders
    ASL 99.96 0 Neurodevelopmental disorders
    ASNS 97.93 0 Neurodevelopmental disorders
    ASPA 100.00 0 Neurodevelopmental disorders
    ASPM 100.00 0 Neurodevelopmental disorders
    ASS1 98.12 0 Neurodevelopmental disorders
    ASTN2 98.47 0 Neurodevelopmental disorders
    ASXL1 99.93 0 Neurodevelopmental disorders
    ASXL3 100.00 0 Neurodevelopmental disorders
    ATG5 100.00 0 Neurodevelopmental disorders
    ATIC 97.39 0 Neurodevelopmental disorders
    ATL1 99.89 0 Neurodevelopmental disorders
    ATM 100.00 0 Neurodevelopmental disorders
    ATP13A2 98.30 0 Neurodevelopmental disorders
    ATP1A2 99.94 0 Neurodevelopmental disorders
    ATP2A2 100.00 0 Neurodevelopmental disorders
    ATP6AP2 98.57 0 Neurodevelopmental disorders
    ATP6V0A2 99.97 0 Neurodevelopmental disorders
    ATP7A 100.00 0 Neurodevelopmental disorders
    ATP8A2 99.91 0 Neurodevelopmental disorders
    ATRX 99.89 0 Neurodevelopmental disorders
    ATXN1 100.00 0 Neurodevelopmental disorders
    ATXN7 98.67 0 Neurodevelopmental disorders
    AUH 99.24 0 Neurodevelopmental disorders
    AUTS2 99.82 0 Neurodevelopmental disorders
    NLRP3 100.00 0 Neurodevelopmental disorders
    AVPR2 99.37 0 Neurodevelopmental disorders
    AXIN1 100.00 0 Neurodevelopmental disorders
    AXL 100.00 0 Neurodevelopmental disorders
    B3GLCT 94.30 0 Neurodevelopmental disorders
    B4GAT1 99.99 0 Neurodevelopmental disorders
    B4GALT1 100.00 0 Neurodevelopmental disorders
    B4GALT7 90.50 0 Neurodevelopmental disorders
    BBS1 100.00 0 Neurodevelopmental disorders
    BBS10 100.00 0 Neurodevelopmental disorders
    BBS12 100.00 0 Neurodevelopmental disorders
    BBS2 100.00 0 Neurodevelopmental disorders
    BBS4 99.97 0 Neurodevelopmental disorders
    BBS5 100.00 0 Neurodevelopmental disorders
    BBS7 99.99 0 Neurodevelopmental disorders
    BBS9 99.93 0 Neurodevelopmental disorders
    BCKDHA 99.90 0 Neurodevelopmental disorders
    BCKDHB 100.00 0 Neurodevelopmental disorders
    BCL11A 100.00 0 Neurodevelopmental disorders
    BCOR 99.79 0 Neurodevelopmental disorders
    BCS1L 100.00 0 Neurodevelopmental disorders
    BIN1 99.94 0 Neurodevelopmental disorders
    BIRC6 99.99 0 Neurodevelopmental disorders
    BLM 100.00 0 Neurodevelopmental disorders
    BRAF 96.83 0 Neurodevelopmental disorders
    BRCA2 100.00 0 Neurodevelopmental disorders
    BRD4 99.43 0 Neurodevelopmental disorders
    BRF1 93.75 0 Neurodevelopmental disorders
    BRIP1 100.00 0 Neurodevelopmental disorders
    BRWD3 99.91 0 Neurodevelopmental disorders
    BSCL2 100.00 0 Neurodevelopmental disorders
    BTD 100.00 0 Neurodevelopmental disorders
    BUB1B 100.00 0 Neurodevelopmental disorders
    TSPOAP1 99.52 0 Neurodevelopmental disorders
    TWNK 100.00 0 Neurodevelopmental disorders
    C12ORF57 100.00 0 Neurodevelopmental disorders
    MTRFR 100.00 0 Neurodevelopmental disorders
    DIPK2A 98.86 0 Neurodevelopmental disorders
    CPLANE1 100.00 0 Neurodevelopmental disorders
    CARNMT1 97.76 0 Neurodevelopmental disorders
    CA2 99.97 0 Neurodevelopmental disorders
    CA8 100.00 0 Neurodevelopmental disorders
    CACNA1A 99.53 0 Neurodevelopmental disorders
    CACNA1B 99.04 0 Neurodevelopmental disorders
    CACNA1C 99.97 0 Neurodevelopmental disorders
    CACNA1D 99.81 0 Neurodevelopmental disorders
    CACNA1F 99.02 0 Neurodevelopmental disorders
    CACNA1G 99.97 0 Neurodevelopmental disorders
    CACNA1H 98.10 0 Neurodevelopmental disorders
    CACNA2D3 99.31 0 Neurodevelopmental disorders
    CACNB2 100.00 0 Neurodevelopmental disorders
    CACNG2 100.00 0 Neurodevelopmental disorders
    CACNG7 99.94 0 Neurodevelopmental disorders
    CALM1 100.00 0 Neurodevelopmental disorders
    CAMTA1 99.98 0 Neurodevelopmental disorders
    CANT1 100.00 0 Neurodevelopmental disorders
    CAPN12 100.00 0 Neurodevelopmental disorders
    CASK 99.99 0 Neurodevelopmental disorders
    CBL 100.00 0 Neurodevelopmental disorders
    CBS 99.85 0 Neurodevelopmental disorders
    CC2D1A 99.45 0 Neurodevelopmental disorders
    CC2D2A 100.00 0 Neurodevelopmental disorders
    CCAR2 99.98 0 Neurodevelopmental disorders
    CCBE1 99.32 0 Neurodevelopmental disorders
    CFAP53 100.00 0 Neurodevelopmental disorders
    CCDC174 100.00 0 Neurodevelopmental disorders
    CCDC22 97.87 0 Neurodevelopmental disorders
    CCDC39 100.00 0 Neurodevelopmental disorders
    CCDC78 100.00 0 Neurodevelopmental disorders
    CCDC88C 99.64 0 Neurodevelopmental disorders
    CCNT1 100.00 0 Neurodevelopmental disorders
    CCSER1 100.00 0 Neurodevelopmental disorders
    CD163L1 99.94 0 Neurodevelopmental disorders
    CDC42BPB 99.67 0 Neurodevelopmental disorders
    CDH11 100.00 0 Neurodevelopmental disorders
    CDH15 94.37 0 Neurodevelopmental disorders
    CDK5RAP2 100.00 0 Neurodevelopmental disorders
    CDKL5 99.77 0 Neurodevelopmental disorders
    CDKN1C 85.53 0 Neurodevelopmental disorders
    CDON 100.00 0 Neurodevelopmental disorders
    CELSR1 95.69 0 Neurodevelopmental disorders
    CENPJ 100.00 0 Neurodevelopmental disorders
    CEP135 99.96 0 Neurodevelopmental disorders
    CEP152 100.00 0 Neurodevelopmental disorders
    CEP290 100.00 0 Neurodevelopmental disorders
    CEP41 100.00 0 Neurodevelopmental disorders
    CEP57 100.00 0 Neurodevelopmental disorders
    CHAMP1 100.00 0 Neurodevelopmental disorders
    CHAT 99.97 0 Neurodevelopmental disorders
    CHD1 100.00 0 Neurodevelopmental disorders
    CHD1L 99.95 0 Neurodevelopmental disorders
    CHD2 100.00 0 Neurodevelopmental disorders
    CHD3 97.53 0 Neurodevelopmental disorders
    CHD4 99.13 0 Neurodevelopmental disorders
    CHD7 100.00 0 Neurodevelopmental disorders
    CHD8 100.00 0 Neurodevelopmental disorders
    CHKB 99.75 0 Neurodevelopmental disorders
    CHRNA2 99.99 0 Neurodevelopmental disorders
    CHRNA4 94.66 0 Neurodevelopmental disorders
    CHRND 100.00 0 Neurodevelopmental disorders
    CHST11 100.00 0 Neurodevelopmental disorders
    CIC 99.22 0 Neurodevelopmental disorders
    CLCN4 100.00 0 Neurodevelopmental disorders
    CLCN7 95.85 0 Neurodevelopmental disorders
    CLCNKB 99.96 0 Neurodevelopmental disorders
    CLIC2 99.96 0 Neurodevelopmental disorders
    CLIP1 100.00 0 Neurodevelopmental disorders
    CLN3 100.00 0 Neurodevelopmental disorders
    CLN5 98.80 0 Neurodevelopmental disorders
    CLN6 100.00 0 Neurodevelopmental disorders
    CLN8 100.00 0 Neurodevelopmental disorders
    CLPB 99.94 0 Neurodevelopmental disorders
    CMIP 99.43 0 Neurodevelopmental disorders
    CNKSR2 99.82 0 Neurodevelopmental disorders
    CNOT1 99.97 0 Neurodevelopmental disorders
    CNOT3 100.00 0 Neurodevelopmental disorders
    CNOT4 100.00 0 Neurodevelopmental disorders
    CNOT6 100.00 0 Neurodevelopmental disorders
    CNTN3 100.00 0 Neurodevelopmental disorders
    CNTN4 100.00 0 Neurodevelopmental disorders
    CNTNAP2 99.10 0 Neurodevelopmental disorders
    COA3 100.00 0 Neurodevelopmental disorders
    COG1 99.01 0 Neurodevelopmental disorders
    COG5 99.95 0 Neurodevelopmental disorders
    COG6 100.00 0 Neurodevelopmental disorders
    COG7 100.00 0 Neurodevelopmental disorders
    COG8 99.96 0 Neurodevelopmental disorders
    COL11A1 100.00 0 Neurodevelopmental disorders
    COL1A2 99.33 0 Neurodevelopmental disorders
    COL25A1 99.96 0 Neurodevelopmental disorders
    COL27A1 99.65 0 Neurodevelopmental disorders
    COL4A1 98.48 0 Neurodevelopmental disorders
    COL4A2 100.00 0 Neurodevelopmental disorders
    CERT1 99.99 0 Neurodevelopmental disorders
    COLEC11 100.00 0 Neurodevelopmental disorders
    COPB2 99.91 0 Neurodevelopmental disorders
    COQ2 99.66 0 Neurodevelopmental disorders
    COX10 100.00 0 Neurodevelopmental disorders
    COX15 99.99 0 Neurodevelopmental disorders
    CP 100.00 0 Neurodevelopmental disorders
    CYP2A6 100.00 0 Neurodevelopmental disorders
    CYP21A2 100.00 0 Neurodevelopmental disorders
    CRADD 100.00 0 Neurodevelopmental disorders
    CRBN 100.00 0 Neurodevelopmental disorders
    CREB1 99.99 0 Neurodevelopmental disorders
    CREBBP 99.97 0 Neurodevelopmental disorders
    CSMD1 100.00 0 Neurodevelopmental disorders
    CSNK2A1 100.00 0 Neurodevelopmental disorders
    CSTF2T 100.00 0 Neurodevelopmental disorders
    CTC1 99.70 0 Neurodevelopmental disorders
    CTCF 100.00 0 Neurodevelopmental disorders
    CTDP1 92.47 0 Neurodevelopmental disorders
    CTNNB1 100.00 0 Neurodevelopmental disorders
    CTSA 99.94 0 Neurodevelopmental disorders
    CTSD 93.41 0 Neurodevelopmental disorders
    CTTNBP2 99.83 0 Neurodevelopmental disorders
    CUBN 100.00 0 Neurodevelopmental disorders
    CUL3 100.00 0 Neurodevelopmental disorders
    CUL4B 99.51 0 Neurodevelopmental disorders
    CUL5 99.99 0 Neurodevelopmental disorders
    CUX2 99.78 0 Neurodevelopmental disorders
    CYB5R3 100.00 0 Neurodevelopmental disorders
    CYFIP1 99.90 0 Neurodevelopmental disorders
    CYP27A1 99.38 0 Neurodevelopmental disorders
    D2HGDH 99.95 0 Neurodevelopmental disorders
    DAG1 100.00 0 Neurodevelopmental disorders
    DAGLA 99.99 0 Neurodevelopmental disorders
    DARS2 100.00 0 Neurodevelopmental disorders
    DBT 100.00 0 Neurodevelopmental disorders
    DCAF17 96.96 0 Neurodevelopmental disorders
    DCPS 100.00 0 Neurodevelopmental disorders
    DCX 99.94 0 Neurodevelopmental disorders
    DDHD2 100.00 0 Neurodevelopmental disorders
    DDX11 99.92 0 Neurodevelopmental disorders
    DDX3X 100.00 0 Neurodevelopmental disorders
    DEAF1 97.27 0 Neurodevelopmental disorders
    DHCR24 98.73 0 Neurodevelopmental disorders
    DHCR7 99.97 0 Neurodevelopmental disorders
    DHFR 91.86 0 Neurodevelopmental disorders
    DHTKD1 99.54 0 Neurodevelopmental disorders
    DHX9 100.00 0 Neurodevelopmental disorders
    DIAPH1 99.95 0 Neurodevelopmental disorders
    DIAPH3 100.00 0 Neurodevelopmental disorders
    DIP2A 99.87 0 Neurodevelopmental disorders
    DIP2B 99.66 0 Neurodevelopmental disorders
    DISC1 0.00 0 Neurodevelopmental disorders
    DKC1 99.88 0 Neurodevelopmental disorders
    DLD 100.00 0 Neurodevelopmental disorders
    DLG2 100.00 0 Neurodevelopmental disorders
    DLG3 99.58 0 Neurodevelopmental disorders
    DLG4 100.00 0 Neurodevelopmental disorders
    DLGAP1 99.92 0 Neurodevelopmental disorders
    DMD 99.96 0 Neurodevelopmental disorders
    DMPK 99.91 0 Neurodevelopmental disorders
    DNAH5 100.00 0 Neurodevelopmental disorders
    DNAJC19 99.65 0 Neurodevelopmental disorders
    DNM1 93.52 0 Neurodevelopmental disorders
    DNMT1 99.54 0 Neurodevelopmental disorders
    DNMT3A 99.73 0 Neurodevelopmental disorders
    DNMT3B 100.00 0 Neurodevelopmental disorders
    DOCK6 99.15 0 Neurodevelopmental disorders
    DOCK8 99.94 0 Neurodevelopmental disorders
    DPAGT1 100.00 0 Neurodevelopmental disorders
    DPF2 100.00 0 Neurodevelopmental disorders
    DPH1 99.97 0 Neurodevelopmental disorders
    DPM1 100.00 0 Neurodevelopmental disorders
    DPP6 99.83 0 Neurodevelopmental disorders
    DPYD 100.00 0 Neurodevelopmental disorders
    DSCAM 99.93 0 Neurodevelopmental disorders
    DST 100.00 0 Neurodevelopmental disorders
    DUSP15 83.59 0 Neurodevelopmental disorders
    DYM 100.00 0 Neurodevelopmental disorders
    DYNC1H1 99.92 0 Neurodevelopmental disorders
    DYRK1A 100.00 0 Neurodevelopmental disorders
    GLB1 100.00 0 Neurodevelopmental disorders
    ECM2 100.00 0 Neurodevelopmental disorders
    EDC3 100.00 0 Neurodevelopmental disorders
    EFCAB5 99.99 0 Neurodevelopmental disorders
    EFNB1 100.00 0 Neurodevelopmental disorders
    EFNB2 100.00 0 Neurodevelopmental disorders
    EFL1 100.00 0 Neurodevelopmental disorders
    EFTUD2 99.99 0 Neurodevelopmental disorders
    EHMT1 97.78 0 Neurodevelopmental disorders
    EI24 99.67 0 Neurodevelopmental disorders
    EIF2AK3 96.33 0 Neurodevelopmental disorders
    EIF2S3 100.00 0 Neurodevelopmental disorders
    EIF3G 100.00 0 Neurodevelopmental disorders
    EIF4A1 99.36 0 Neurodevelopmental disorders
    EIF4G1 100.00 0 Neurodevelopmental disorders
    ELAVL2 100.00 0 Neurodevelopmental disorders
    ELK1 99.85 0 Neurodevelopmental disorders
    ELOVL4 100.00 0 Neurodevelopmental disorders
    ELP2 100.00 0 Neurodevelopmental disorders
    EMC1 100.00 0 Neurodevelopmental disorders
    EML1 98.26 0 Neurodevelopmental disorders
    EMX2 99.97 0 Neurodevelopmental disorders
    EN2 99.85 0 Neurodevelopmental disorders
    EP300 100.00 0 Neurodevelopmental disorders
    EP400 100.00 0 Neurodevelopmental disorders
    EPB41L1 100.00 0 Neurodevelopmental disorders
    EPHA5 99.93 0 Neurodevelopmental disorders
    EPHB2 96.50 0 Neurodevelopmental disorders
    ERBIN 100.00 0 Neurodevelopmental disorders
    ERBB4 100.00 0 Neurodevelopmental disorders
    ERCC2 99.22 0 Neurodevelopmental disorders
    ERCC3 100.00 0 Neurodevelopmental disorders
    ERCC5 100.00 0 Neurodevelopmental disorders
    ERCC6 100.00 0 Neurodevelopmental disorders
    ERCC8 100.00 0 Neurodevelopmental disorders
    ERLIN2 100.00 0 Neurodevelopmental disorders
    ESCO2 100.00 0 Neurodevelopmental disorders
    ETFB 100.00 0 Neurodevelopmental disorders
    ETHE1 97.84 0 Neurodevelopmental disorders
    EXOC3L2 99.73 0 Neurodevelopmental disorders
    EXOSC3 100.00 0 Neurodevelopmental disorders
    EXT1 100.00 0 Neurodevelopmental disorders
    EZH2 100.00 0 Neurodevelopmental disorders
    EZR 100.00 0 Neurodevelopmental disorders
    F5 99.99 0 Neurodevelopmental disorders
    FAAH2 100.00 0 Neurodevelopmental disorders
    OTULIN 87.40 0 Neurodevelopmental disorders
    HYCC1 100.00 0 Neurodevelopmental disorders
    FAM177A1 100.00 0 Neurodevelopmental disorders
    FANCB 100.00 0 Neurodevelopmental disorders
    FANCD2 100.00 0 Neurodevelopmental disorders
    FANCG 99.98 0 Neurodevelopmental disorders
    FBLN5 100.00 0 Neurodevelopmental disorders
    FBN1 100.00 0 Neurodevelopmental disorders
    FBN2 100.00 0 Neurodevelopmental disorders
    FBXO31 94.11 0 Neurodevelopmental disorders
    FBXO33 92.42 0 Neurodevelopmental disorders
    FEZF2 99.95 0 Neurodevelopmental disorders
    FGD1 99.24 0 Neurodevelopmental disorders
    FGF14 100.00 0 Neurodevelopmental disorders
    FGFR1 99.94 0 Neurodevelopmental disorders
    FGFR2 100.00 0 Neurodevelopmental disorders
    FGFR3 99.24 0 Neurodevelopmental disorders
    FGG 100.00 0 Neurodevelopmental disorders
    FH 100.00 0 Neurodevelopmental disorders
    FHIT 100.00 0 Neurodevelopmental disorders
    FIGN 100.00 0 Neurodevelopmental disorders
    FKRP 100.00 0 Neurodevelopmental disorders
    FKTN 100.00 0 Neurodevelopmental disorders
    FLNA 99.75 0 Neurodevelopmental disorders
    FLVCR1 100.00 0 Neurodevelopmental disorders
    FMN2 100.00 0 Neurodevelopmental disorders
    FMR1 99.99 0 Neurodevelopmental disorders
    FOLR1 100.00 0 Neurodevelopmental disorders
    FOXG1 92.10 0 Neurodevelopmental disorders
    FOXP1 100.00 0 Neurodevelopmental disorders
    FOXP2 99.61 0 Neurodevelopmental disorders
    FOXP3 99.44 0 Neurodevelopmental disorders
    FRAS1 100.00 0 Neurodevelopmental disorders
    FRMPD4 99.90 0 Neurodevelopmental disorders
    FRRS1L 82.37 0 Neurodevelopmental disorders
    FTCD 96.32 0 Neurodevelopmental disorders
    FTO 100.00 0 Neurodevelopmental disorders
    FTSJ1 100.00 0 Neurodevelopmental disorders
    FUCA1 99.91 0 Neurodevelopmental disorders
    FXR1 99.74 0 Neurodevelopmental disorders
    G6PC3 100.00 0 Neurodevelopmental disorders
    GABRA1 100.00 0 Neurodevelopmental disorders
    GABRA5 100.00 0 Neurodevelopmental disorders
    GABRB3 100.00 0 Neurodevelopmental disorders
    GABRG2 91.70 0 Neurodevelopmental disorders
    GABRG3 99.57 0 Neurodevelopmental disorders
    GAD1 100.00 0 Neurodevelopmental disorders
    GALE 100.00 0 Neurodevelopmental disorders
    GALK1 99.40 0 Neurodevelopmental disorders
    GALNT18 100.00 0 Neurodevelopmental disorders
    GALT 100.00 0 Neurodevelopmental disorders
    GAMT 97.00 0 Neurodevelopmental disorders
    GAN 98.52 0 Neurodevelopmental disorders
    GARNL3 100.00 0 Neurodevelopmental disorders
    GARS1 97.89 0 Neurodevelopmental disorders
    GAS2 100.00 0 Neurodevelopmental disorders
    GATAD2B 100.00 0 Neurodevelopmental disorders
    GATM 98.74 0 Neurodevelopmental disorders
    GBA1 100.00 0 Neurodevelopmental disorders
    GBE1 100.00 0 Neurodevelopmental disorders
    GCH1 99.71 0 Neurodevelopmental disorders
    GCK 99.13 0 Neurodevelopmental disorders
    GCOM1 95.06 0 Neurodevelopmental disorders
    GCSH 73.97 0 Neurodevelopmental disorders
    GDI1 99.45 0 Neurodevelopmental disorders
    GFAP 100.00 0 Neurodevelopmental disorders
    GFM1 100.00 0 Neurodevelopmental disorders
    GHR 99.41 0 Neurodevelopmental disorders
    GIGYF1 99.99 0 Neurodevelopmental disorders
    GIMAP8 100.00 0 Neurodevelopmental disorders
    GJB1 100.00 0 Neurodevelopmental disorders
    GJB6 100.00 0 Neurodevelopmental disorders
    GJC2 96.72 0 Neurodevelopmental disorders
    GK 98.88 0 Neurodevelopmental disorders
    GLDC 97.39 0 Neurodevelopmental disorders
    GLI2 96.28 0 Neurodevelopmental disorders
    GLI3 100.00 0 Neurodevelopmental disorders
    GLO1 100.00 0 Neurodevelopmental disorders
    GLRA1 100.00 0 Neurodevelopmental disorders
    GLUL 100.00 0 Neurodevelopmental disorders
    GLYCTK 98.86 0 Neurodevelopmental disorders
    GM2A 100.00 0 Neurodevelopmental disorders
    GMPPA 100.00 0 Neurodevelopmental disorders
    GMPPB 100.00 0 Neurodevelopmental disorders
    GNAO1 100.00 0 Neurodevelopmental disorders
    GNAS 100.00 0 Neurodevelopmental disorders
    GNB1 100.00 0 Neurodevelopmental disorders
    GNB5 98.67 0 Neurodevelopmental disorders
    GNPAT 100.00 0 Neurodevelopmental disorders
    GNPTAB 99.91 0 Neurodevelopmental disorders
    GNPTG 95.92 0 Neurodevelopmental disorders
    GNRHR 100.00 0 Neurodevelopmental disorders
    GNS 100.00 0 Neurodevelopmental disorders
    GORASP2 99.76 0 Neurodevelopmental disorders
    GP1BB 44.39 0 Neurodevelopmental disorders
    GPC3 99.72 0 Neurodevelopmental disorders
    GPHN 100.00 0 Neurodevelopmental disorders
    GPKOW 99.98 0 Neurodevelopmental disorders
    GPR37 100.00 0 Neurodevelopmental disorders
    ADGRG1 99.99 0 Neurodevelopmental disorders
    GPT2 97.87 0 Neurodevelopmental disorders
    GRB2 100.00 0 Neurodevelopmental disorders
    GRIA3 99.99 0 Neurodevelopmental disorders
    GRIA4 100.00 0 Neurodevelopmental disorders
    GRID2 100.00 0 Neurodevelopmental disorders
    GRIK2 100.00 0 Neurodevelopmental disorders
    GRIN1 99.80 0 Neurodevelopmental disorders
    GRIN2A 100.00 0 Neurodevelopmental disorders
    GRIN2B 100.00 0 Neurodevelopmental disorders
    GRIN3B 87.60 0 Neurodevelopmental disorders
    GRM1 99.99 0 Neurodevelopmental disorders
    GSE1 99.15 0 Neurodevelopmental disorders
    GSPT2 99.99 0 Neurodevelopmental disorders
    GSS 100.00 0 Neurodevelopmental disorders
    GTF2H5 100.00 0 Neurodevelopmental disorders
    GTF2IRD1 99.04 0 Neurodevelopmental disorders
    GTF3C1 100.00 0 Neurodevelopmental disorders
    GTPBP2 99.78 0 Neurodevelopmental disorders
    GUSB 97.13 0 Neurodevelopmental disorders
    GYS2 100.00 0 Neurodevelopmental disorders
    HAL 99.95 0 Neurodevelopmental disorders
    HAX1 100.00 0 Neurodevelopmental disorders
    HCCS 100.00 0 Neurodevelopmental disorders
    HCFC1 99.85 0 Neurodevelopmental disorders
    HCN1 99.93 0 Neurodevelopmental disorders
    HDAC4 99.86 0 Neurodevelopmental disorders
    HDAC6 99.91 0 Neurodevelopmental disorders
    HDAC8 99.75 0 Neurodevelopmental disorders
    HDAC9 100.00 0 Neurodevelopmental disorders
    HECTD1 100.00 0 Neurodevelopmental disorders
    HECW2 100.00 0 Neurodevelopmental disorders
    HEPACAM 99.85 0 Neurodevelopmental disorders
    HERC1 100.00 0 Neurodevelopmental disorders
    HERC2 97.66 0 Neurodevelopmental disorders
    HESX1 100.00 0 Neurodevelopmental disorders
    HEXA 100.00 0 Neurodevelopmental disorders
    HEXB 99.19 0 Neurodevelopmental disorders
    H1-4 99.57 0 Neurodevelopmental disorders
    H4C2 100.00 0 Neurodevelopmental disorders
    HIVEP2 99.91 0 Neurodevelopmental disorders
    HIVEP3 100.00 0 Neurodevelopmental disorders
    HLCS 100.00 0 Neurodevelopmental disorders
    HMGA2 93.67 0 Neurodevelopmental disorders
    HNMT 100.00 0 Neurodevelopmental disorders
    HNRNPH1 100.00 0 Neurodevelopmental disorders
    HNRNPU 99.82 0 Neurodevelopmental disorders
    HNRNPUL1 99.31 0 Neurodevelopmental disorders
    HOXA1 100.00 0 Neurodevelopmental disorders
    HOXB1 100.00 0 Neurodevelopmental disorders
    HOXD10 100.00 0 Neurodevelopmental disorders
    HPD 100.00 0 Neurodevelopmental disorders
    HPRT1 92.71 0 Neurodevelopmental disorders
    HRAS 100.00 0 Neurodevelopmental disorders
    HSD17B10 100.00 0 Neurodevelopmental disorders
    HSPA4 100.00 0 Neurodevelopmental disorders
    HSPD1 95.18 0 Neurodevelopmental disorders
    HTR2A 100.00 0 Neurodevelopmental disorders
    HUWE1 99.95 0 Neurodevelopmental disorders
    IARS1 100.00 0 Neurodevelopmental disorders
    IDH2 93.11 0 Neurodevelopmental disorders
    IDS 99.88 0 Neurodevelopmental disorders
    IDUA 91.86 0 Neurodevelopmental disorders
    IER3IP1 99.44 0 Neurodevelopmental disorders
    IFT172 100.00 0 Neurodevelopmental disorders
    IGBP1 99.53 0 Neurodevelopmental disorders
    IGF1 100.00 0 Neurodevelopmental disorders
    IGF1R 100.00 0 Neurodevelopmental disorders
    IKBKG 96.89 0 Neurodevelopmental disorders
    IL1RAPL1 99.95 0 Neurodevelopmental disorders
    ILF2 100.00 0 Neurodevelopmental disorders
    INPP5E 99.14 0 Neurodevelopmental disorders
    INSR 96.68 0 Neurodevelopmental disorders
    INTU 100.00 0 Neurodevelopmental disorders
    IQGAP3 100.00 0 Neurodevelopmental disorders
    IQSEC2 98.53 0 Neurodevelopmental disorders
    IRS1 100.00 0 Neurodevelopmental disorders
    IRX5 98.24 0 Neurodevelopmental disorders
    CRPPA 95.50 0 Neurodevelopmental disorders
    ITGA7 100.00 0 Neurodevelopmental disorders
    ITGB3 99.17 0 Neurodevelopmental disorders
    ITPR1 99.99 0 Neurodevelopmental disorders
    ITSN1 99.99 0 Neurodevelopmental disorders
    JADE2 100.00 0 Neurodevelopmental disorders
    JAG1 99.87 0 Neurodevelopmental disorders
    JAM3 99.88 0 Neurodevelopmental disorders
    JMJD1C 100.00 0 Neurodevelopmental disorders
    JUP 100.00 0 Neurodevelopmental disorders
    KANK1 100.00 0 Neurodevelopmental disorders
    KANSL1 100.00 0 Neurodevelopmental disorders
    KAT6A 100.00 0 Neurodevelopmental disorders
    KAT6B 100.00 0 Neurodevelopmental disorders
    KATNAL2 100.00 0 Neurodevelopmental disorders
    KATNB1 99.90 0 Neurodevelopmental disorders
    KCNA1 100.00 0 Neurodevelopmental disorders
    KCNH1 100.00 0 Neurodevelopmental disorders
    KCNJ10 100.00 0 Neurodevelopmental disorders
    KCNJ11 100.00 0 Neurodevelopmental disorders
    KCNJ6 100.00 0 Neurodevelopmental disorders
    KCNK9 100.00 0 Neurodevelopmental disorders
    KCNMA1 99.93 0 Neurodevelopmental disorders
    KCNQ2 99.92 0 Neurodevelopmental disorders
    KCNQ3 98.20 0 Neurodevelopmental disorders
    KCNQ4 94.57 0 Neurodevelopmental disorders
    KCNT1 98.96 0 Neurodevelopmental disorders
    KCTD7 100.00 0 Neurodevelopmental disorders
    KDM1A 99.82 0 Neurodevelopmental disorders
    KDM5A 100.00 0 Neurodevelopmental disorders
    KDM5B 100.00 0 Neurodevelopmental disorders
    KDM5C 99.97 0 Neurodevelopmental disorders
    KDM6A 99.72 0 Neurodevelopmental disorders
    KDM6B 99.91 0 Neurodevelopmental disorders
    RUBCN 96.60 0 Neurodevelopmental disorders
    KIAA0753 100.00 0 Neurodevelopmental disorders
    WASHC4 98.56 0 Neurodevelopmental disorders
    KIAA1109 99.99 0 Neurodevelopmental disorders
    KIFBP 100.00 0 Neurodevelopmental disorders
    CIP2A 100.00 0 Neurodevelopmental disorders
    LNPK 99.88 0 Neurodevelopmental disorders
    NEXMIF 100.00 0 Neurodevelopmental disorders
    KIF11 100.00 0 Neurodevelopmental disorders
    KIF16B 99.96 0 Neurodevelopmental disorders
    KIF1A 98.74 0 Neurodevelopmental disorders
    KIF21A 98.54 0 Neurodevelopmental disorders
    KIF26B 99.95 0 Neurodevelopmental disorders
    KIF2A 99.97 0 Neurodevelopmental disorders
    KIF4A 99.86 0 Neurodevelopmental disorders
    KIF5A 100.00 0 Neurodevelopmental disorders
    KIF5C 100.00 0 Neurodevelopmental disorders
    KIF7 99.64 0 Neurodevelopmental disorders
    KIRREL3 100.00 0 Neurodevelopmental disorders
    KIT 99.95 0 Neurodevelopmental disorders
    KLC2 100.00 0 Neurodevelopmental disorders
    KLF7 100.00 0 Neurodevelopmental disorders
    KLF8 99.94 0 Neurodevelopmental disorders
    KMT2A 99.70 0 Neurodevelopmental disorders
    KMT2C 100.00 0 Neurodevelopmental disorders
    KMT2D 99.98 0 Neurodevelopmental disorders
    KMT2E 99.98 0 Neurodevelopmental disorders
    KPTN 100.00 0 Neurodevelopmental disorders
    KRAS 100.00 0 Neurodevelopmental disorders
    KRBOX4 100.00 0 Neurodevelopmental disorders
    KRT18 72.23 0 Neurodevelopmental disorders
    KRT24 100.00 0 Neurodevelopmental disorders
    KRT8 94.97 0 Neurodevelopmental disorders
    KYNU 100.00 0 Neurodevelopmental disorders
    L1CAM 99.98 0 Neurodevelopmental disorders
    L2HGDH 99.75 0 Neurodevelopmental disorders
    LAMA1 99.79 0 Neurodevelopmental disorders
    LAMA2 100.00 0 Neurodevelopmental disorders
    LAMB1 100.00 0 Neurodevelopmental disorders
    LAMC3 98.42 0 Neurodevelopmental disorders
    LAMP2 99.60 0 Neurodevelopmental disorders
    LARGE1 100.00 0 Neurodevelopmental disorders
    LARP7 100.00 0 Neurodevelopmental disorders
    LAS1L 99.53 0 Neurodevelopmental disorders
    LBR 100.00 0 Neurodevelopmental disorders
    LCT 100.00 0 Neurodevelopmental disorders
    LHX3 90.58 0 Neurodevelopmental disorders
    LIG4 100.00 0 Neurodevelopmental disorders
    LINS1 100.00 0 Neurodevelopmental disorders
    LMAN2L 100.00 0 Neurodevelopmental disorders
    LMBRD1 100.00 0 Neurodevelopmental disorders
    ADGRL2 99.98 0 Neurodevelopmental disorders
    LRP1 100.00 0 Neurodevelopmental disorders
    LRP2 99.71 0 Neurodevelopmental disorders
    LRP5 96.72 0 Neurodevelopmental disorders
    LRPPRC 98.80 0 Neurodevelopmental disorders
    LRRC7 100.00 0 Neurodevelopmental disorders
    LYST 100.00 0 Neurodevelopmental disorders
    MAGEL2 99.88 0 Neurodevelopmental disorders
    MAGT1 100.00 0 Neurodevelopmental disorders
    MAN1B1 99.81 0 Neurodevelopmental disorders
    MAN2B1 99.30 0 Neurodevelopmental disorders
    MANBA 99.49 0 Neurodevelopmental disorders
    MAOA 98.99 0 Neurodevelopmental disorders
    MAP1B 99.93 0 Neurodevelopmental disorders
    MAP2 100.00 0 Neurodevelopmental disorders
    MAP2K1 100.00 0 Neurodevelopmental disorders
    MAP2K2 99.99 0 Neurodevelopmental disorders
    MAPK1 99.88 0 Neurodevelopmental disorders
    MAPK3 99.96 0 Neurodevelopmental disorders
    MAPRE2 100.00 0 Neurodevelopmental disorders
    MAPT 100.00 0 Neurodevelopmental disorders
    MAT1A 100.00 0 Neurodevelopmental disorders
    MBD3 100.00 0 Neurodevelopmental disorders
    MBD5 100.00 0 Neurodevelopmental disorders
    MBTPS2 100.00 0 Neurodevelopmental disorders
    MCCC1 99.77 0 Neurodevelopmental disorders
    MCCC2 99.65 0 Neurodevelopmental disorders
    MCOLN1 95.75 0 Neurodevelopmental disorders
    MCPH1 99.70 0 Neurodevelopmental disorders
    MDM2 100.00 0 Neurodevelopmental disorders
    MECP2 96.46 0 Neurodevelopmental disorders
    MED12 99.02 0 Neurodevelopmental disorders
    MED13L 99.95 0 Neurodevelopmental disorders
    MED17 100.00 0 Neurodevelopmental disorders
    MED23 99.94 0 Neurodevelopmental disorders
    MED29 100.00 0 Neurodevelopmental disorders
    MEF2C 100.00 0 Neurodevelopmental disorders
    MET 100.00 0 Neurodevelopmental disorders
    METTL23 100.00 0 Neurodevelopmental disorders
    MFRP 100.00 0 Neurodevelopmental disorders
    MFSD8 100.00 0 Neurodevelopmental disorders
    MGAT2 100.00 0 Neurodevelopmental disorders
    MIB1 100.00 0 Neurodevelopmental disorders
    MID1 100.00 0 Neurodevelopmental disorders
    MID2 100.00 0 Neurodevelopmental disorders
    MIR222 100.00 0 Neurodevelopmental disorders
    MKKS 100.00 0 Neurodevelopmental disorders
    MLH1 100.00 0 Neurodevelopmental disorders
    MLYCD 96.09 0 Neurodevelopmental disorders
    MMAA 100.00 0 Neurodevelopmental disorders
    MMACHC 100.00 0 Neurodevelopmental disorders
    MMADHC 100.00 0 Neurodevelopmental disorders
    MMP21 97.88 0 Neurodevelopmental disorders
    MOCS1 99.94 0 Neurodevelopmental disorders
    MOCS2 100.00 0 Neurodevelopmental disorders
    MOGS 98.86 0 Neurodevelopmental disorders
    MOV10 100.00 0 Neurodevelopmental disorders
    MPDU1 100.00 0 Neurodevelopmental disorders
    MPDZ 100.00 0 Neurodevelopmental disorders
    MPHOSPH8 100.00 0 Neurodevelopmental disorders
    MPI 100.00 0 Neurodevelopmental disorders
    MPLKIP 100.00 0 Neurodevelopmental disorders
    MPZ 99.80 0 Neurodevelopmental disorders
    MRAP 100.00 0 Neurodevelopmental disorders
    MRPS22 98.08 0 Neurodevelopmental disorders
    MSH6 99.89 0 Neurodevelopmental disorders
    MST1R 100.00 0 Neurodevelopmental disorders
    MTFMT 97.83 0 Neurodevelopmental disorders
    MTHFR 100.00 0 Neurodevelopmental disorders
    MTHFS 94.81 0 Neurodevelopmental disorders
    MTM1 99.91 0 Neurodevelopmental disorders
    MTMR2 99.55 0 Neurodevelopmental disorders
    MTR 100.00 0 Neurodevelopmental disorders
    MTRR 100.00 0 Neurodevelopmental disorders
    MMUT 99.99 0 Neurodevelopmental disorders
    MVK 100.00 0 Neurodevelopmental disorders
    MYCN 99.89 0 Neurodevelopmental disorders
    MYH10 100.00 0 Neurodevelopmental disorders
    MYH7B 99.85 0 Neurodevelopmental disorders
    MYH9 99.99 0 Neurodevelopmental disorders
    MYO1E 99.57 0 Neurodevelopmental disorders
    MYO3A 100.00 0 Neurodevelopmental disorders
    MYO5A 99.67 0 Neurodevelopmental disorders
    MYO7A 99.88 0 Neurodevelopmental disorders
    MYOC 100.00 0 Neurodevelopmental disorders
    MYT1L 100.00 0 Neurodevelopmental disorders
    NAA10 96.95 0 Neurodevelopmental disorders
    NAA15 100.00 0 Neurodevelopmental disorders
    NAGA 100.00 0 Neurodevelopmental disorders
    NAGLU 96.69 0 Neurodevelopmental disorders
    NALCN 100.00 0 Neurodevelopmental disorders
    NANS 100.00 0 Neurodevelopmental disorders
    NAV2 100.00 0 Neurodevelopmental disorders
    NBEA 97.18 0 Neurodevelopmental disorders
    NBN 100.00 0 Neurodevelopmental disorders
    NCKAP1 100.00 0 Neurodevelopmental disorders
    NDE1 100.00 0 Neurodevelopmental disorders
    NDP 100.00 0 Neurodevelopmental disorders
    NDST1 100.00 0 Neurodevelopmental disorders
    NDUFA1 100.00 0 Neurodevelopmental disorders
    NDUFA10 96.45 0 Neurodevelopmental disorders
    NDUFA11 80.54 0 Neurodevelopmental disorders
    NDUFA12 100.00 0 Neurodevelopmental disorders
    NDUFAF5 99.96 0 Neurodevelopmental disorders
    NDUFS1 100.00 0 Neurodevelopmental disorders
    NDUFS2 100.00 0 Neurodevelopmental disorders
    NDUFS3 100.00 0 Neurodevelopmental disorders
    NDUFS4 99.96 0 Neurodevelopmental disorders
    NDUFS7 93.34 0 Neurodevelopmental disorders
    NDUFS8 100.00 0 Neurodevelopmental disorders
    NDUFV1 99.62 0 Neurodevelopmental disorders
    NEDD4L 98.66 0 Neurodevelopmental disorders
    NEDD9 100.00 0 Neurodevelopmental disorders
    NEU1 100.00 0 Neurodevelopmental disorders
    NF1 98.78 0 Neurodevelopmental disorders
    NFATC1 99.80 0 Neurodevelopmental disorders
    NFIA 99.95 0 Neurodevelopmental disorders
    NFIX 94.60 0 Neurodevelopmental disorders
    NGF 100.00 0 Neurodevelopmental disorders
    NHEJ1 100.00 0 Neurodevelopmental disorders
    NHP2 100.00 0 Neurodevelopmental disorders
    NHS 92.80 0 Neurodevelopmental disorders
    NIPBL 99.48 0 Neurodevelopmental disorders
    NKX2-1 97.73 0 Neurodevelopmental disorders
    NLGN1 100.00 0 Neurodevelopmental disorders
    NLGN3 99.95 0 Neurodevelopmental disorders
    NLGN4X 100.00 0 Neurodevelopmental disorders
    NLGN4Y 60.20 0 Neurodevelopmental disorders
    NOG 99.95 0 Neurodevelopmental disorders
    NONO 100.00 0 Neurodevelopmental disorders
    NOTCH3 93.46 0 Neurodevelopmental disorders
    NPC1 97.50 0 Neurodevelopmental disorders
    NPC2 100.00 0 Neurodevelopmental disorders
    NPHP1 100.00 0 Neurodevelopmental disorders
    NPHP3 99.99 0 Neurodevelopmental disorders
    NR2F1 99.99 0 Neurodevelopmental disorders
    NR3C2 99.99 0 Neurodevelopmental disorders
    NR4A2 100.00 0 Neurodevelopmental disorders
    NRAS 100.00 0 Neurodevelopmental disorders
    NRCAM 100.00 0 Neurodevelopmental disorders
    NRG3 99.55 0 Neurodevelopmental disorders
    NRIP1 100.00 0 Neurodevelopmental disorders
    NRXN1 99.87 0 Neurodevelopmental disorders
    NRXN2 93.76 0 Neurodevelopmental disorders
    NSD1 100.00 0 Neurodevelopmental disorders
    NSDHL 100.00 0 Neurodevelopmental disorders
    NSUN2 99.69 0 Neurodevelopmental disorders
    NTRK1 98.36 0 Neurodevelopmental disorders
    NTRK2 100.00 0 Neurodevelopmental disorders
    NUAK1 99.69 0 Neurodevelopmental disorders
    NXF5 98.08 0 Neurodevelopmental disorders
    OBSL1 99.88 0 Neurodevelopmental disorders
    OCA2 99.49 0 Neurodevelopmental disorders
    OCLN 100.00 0 Neurodevelopmental disorders
    OCRL 98.81 0 Neurodevelopmental disorders
    ODC1 100.00 0 Neurodevelopmental disorders
    OFD1 97.13 0 Neurodevelopmental disorders
    OGT 99.90 0 Neurodevelopmental disorders
    OPHN1 99.94 0 Neurodevelopmental disorders
    SLC25A15 100.00 0 Neurodevelopmental disorders
    OTC 99.17 0 Neurodevelopmental disorders
    OXTR 92.68 0 Neurodevelopmental disorders
    PACS1 98.26 0 Neurodevelopmental disorders
    PAFAH1B1 100.00 0 Neurodevelopmental disorders
    PAH 100.00 0 Neurodevelopmental disorders
    PAK3 98.75 0 Neurodevelopmental disorders
    PANK2 100.00 0 Neurodevelopmental disorders
    PARD3B 100.00 0 Neurodevelopmental disorders
    PARP1 100.00 0 Neurodevelopmental disorders
    PAX1 96.00 0 Neurodevelopmental disorders
    PAX5 100.00 0 Neurodevelopmental disorders
    PAX6 100.00 0 Neurodevelopmental disorders
    PAX8 99.96 0 Neurodevelopmental disorders
    PBRM1 100.00 0 Neurodevelopmental disorders
    PODXL 100.00 0 Neurodevelopmental disorders
    PCDH10 99.96 0 Neurodevelopmental disorders
    PCDH19 98.99 0 Neurodevelopmental disorders
    PCGF2 100.00 0 Neurodevelopmental disorders
    PCLO 100.00 0 Neurodevelopmental disorders
    PCNT 99.88 0 Neurodevelopmental disorders
    PDE1C 99.99 0 Neurodevelopmental disorders
    PDE4D 99.96 0 Neurodevelopmental disorders
    PDE8B 98.72 0 Neurodevelopmental disorders
    PDHA1 92.64 0 Neurodevelopmental disorders
    PDHX 100.00 0 Neurodevelopmental disorders
    PDSS1 85.11 0 Neurodevelopmental disorders
    PDSS2 100.00 0 Neurodevelopmental disorders
    PEPD 97.88 0 Neurodevelopmental disorders
    PER2 100.00 0 Neurodevelopmental disorders
    PEX1 100.00 0 Neurodevelopmental disorders
    PEX10 87.10 0 Neurodevelopmental disorders
    PEX11B 100.00 0 Neurodevelopmental disorders
    PEX12 100.00 0 Neurodevelopmental disorders
    PEX13 100.00 0 Neurodevelopmental disorders
    PEX16 99.97 0 Neurodevelopmental disorders
    PEX19 100.00 0 Neurodevelopmental disorders
    PEX2 100.00 0 Neurodevelopmental disorders
    PEX26 100.00 0 Neurodevelopmental disorders
    PEX3 100.00 0 Neurodevelopmental disorders
    PEX5 100.00 0 Neurodevelopmental disorders
    PEX6 99.74 0 Neurodevelopmental disorders
    PEX7 95.60 0 Neurodevelopmental disorders
    PGA5 100.00 0 Neurodevelopmental disorders
    PGAP1 100.00 0 Neurodevelopmental disorders
    PGAP2 100.00 0 Neurodevelopmental disorders
    PGAP3 98.48 0 Neurodevelopmental disorders
    PGK1 99.88 0 Neurodevelopmental disorders
    PHF2 99.95 0 Neurodevelopmental disorders
    PHF21A 100.00 0 Neurodevelopmental disorders
    PHF6 100.00 0 Neurodevelopmental disorders
    PHF8 100.00 0 Neurodevelopmental disorders
    PHGDH 100.00 0 Neurodevelopmental disorders
    PHIP 99.68 0 Neurodevelopmental disorders
    PHKA2 99.88 0 Neurodevelopmental disorders
    PHKG2 100.00 0 Neurodevelopmental disorders
    PIAS1 99.99 0 Neurodevelopmental disorders
    PIGG 100.00 0 Neurodevelopmental disorders
    PIGL 100.00 0 Neurodevelopmental disorders
    PIGN 100.00 0 Neurodevelopmental disorders
    PIGO 100.00 0 Neurodevelopmental disorders
    PIGS 99.99 0 Neurodevelopmental disorders
    PIGT 100.00 0 Neurodevelopmental disorders
    PIGV 100.00 0 Neurodevelopmental disorders
    PIGW 100.00 0 Neurodevelopmental disorders
    PIGY 100.00 0 Neurodevelopmental disorders
    PIK3R2 88.52 0 Neurodevelopmental disorders
    PLA2G6 100.00 0 Neurodevelopmental disorders
    PLCB1 100.00 0 Neurodevelopmental disorders
    PLP1 100.00 0 Neurodevelopmental disorders
    PLXNB1 100.00 0 Neurodevelopmental disorders
    PMM2 100.00 0 Neurodevelopmental disorders
    PNKP 99.84 0 Neurodevelopmental disorders
    PNP 100.00 0 Neurodevelopmental disorders
    POC1A 99.00 0 Neurodevelopmental disorders
    POGZ 100.00 0 Neurodevelopmental disorders
    POLG 100.00 0 Neurodevelopmental disorders
    POLR2M 100.00 0 Neurodevelopmental disorders
    POLR3A 100.00 0 Neurodevelopmental disorders
    POLR3B 100.00 0 Neurodevelopmental disorders
    POMC 100.00 0 Neurodevelopmental disorders
    POMGNT1 100.00 0 Neurodevelopmental disorders
    POMGNT2 100.00 0 Neurodevelopmental disorders
    POMT1 100.00 0 Neurodevelopmental disorders
    POMT2 99.53 0 Neurodevelopmental disorders
    PORCN 98.59 0 Neurodevelopmental disorders
    POT1 99.99 0 Neurodevelopmental disorders
    POU1F1 100.00 0 Neurodevelopmental disorders
    POU3F3 71.08 0 Neurodevelopmental disorders
    POU3F4 100.00 0 Neurodevelopmental disorders
    PPM1D 100.00 0 Neurodevelopmental disorders
    HCRT 100.00 0 Neurodevelopmental disorders
    PPP1CB 100.00 0 Neurodevelopmental disorders
    PPP1R1B 100.00 0 Neurodevelopmental disorders
    PPP2R1A 100.00 0 Neurodevelopmental disorders
    PPP2R5D 100.00 0 Neurodevelopmental disorders
    PPT1 100.00 0 Neurodevelopmental disorders
    PQBP1 99.91 0 Neurodevelopmental disorders
    PRICKLE1 100.00 0 Neurodevelopmental disorders
    PRKAR1A 100.00 0 Neurodevelopmental disorders
    PRKRA 99.64 0 Neurodevelopmental disorders
    PRMT7 100.00 0 Neurodevelopmental disorders
    PRODH 88.26 0 Neurodevelopmental disorders
    PRPS1 99.91 0 Neurodevelopmental disorders
    PRR12 99.99 0 Neurodevelopmental disorders
    PRRT2 100.00 0 Neurodevelopmental disorders
    PRSS12 100.00 0 Neurodevelopmental disorders
    PSAP 100.00 0 Neurodevelopmental disorders
    PSEN1 100.00 0 Neurodevelopmental disorders
    PTCH1 98.82 0 Neurodevelopmental disorders
    PTCHD1 99.78 0 Neurodevelopmental disorders
    PTDSS1 100.00 0 Neurodevelopmental disorders
    PTEN 99.45 0 Neurodevelopmental disorders
    PTHLH 100.00 0 Neurodevelopmental disorders
    PTK7 100.00 0 Neurodevelopmental disorders
    PTPN11 94.43 0 Neurodevelopmental disorders
    PUF60 99.31 0 Neurodevelopmental disorders
    PUM1 100.00 0 Neurodevelopmental disorders
    PURA 95.47 0 Neurodevelopmental disorders
    PUS1 100.00 0 Neurodevelopmental disorders
    PUS3 100.00 0 Neurodevelopmental disorders
    PUS7 100.00 0 Neurodevelopmental disorders
    NECTIN1 99.19 0 Neurodevelopmental disorders
    PYCR1 100.00 0 Neurodevelopmental disorders
    PYCR2 100.00 0 Neurodevelopmental disorders
    PYGL 100.00 0 Neurodevelopmental disorders
    QRICH1 100.00 0 Neurodevelopmental disorders
    RAB18 99.99 0 Neurodevelopmental disorders
    RAB27A 100.00 0 Neurodevelopmental disorders
    RAB39B 100.00 0 Neurodevelopmental disorders
    RAB3GAP1 100.00 0 Neurodevelopmental disorders
    RAB3GAP2 100.00 0 Neurodevelopmental disorders
    RAB40AL 99.91 0 Neurodevelopmental disorders
    RABL6 99.42 0 Neurodevelopmental disorders
    NCOA3 88.47 0 Neurodevelopmental disorders
    RAD21 100.00 0 Neurodevelopmental disorders
    RAF1 100.00 0 Neurodevelopmental disorders
    RAI1 93.59 0 Neurodevelopmental disorders
    RALGAPB 100.00 0 Neurodevelopmental disorders
    RALGDS 92.25 0 Neurodevelopmental disorders
    RANBP17 98.10 0 Neurodevelopmental disorders
    RAPSN 100.00 0 Neurodevelopmental disorders
    RARS2 100.00 0 Neurodevelopmental disorders
    RASGEF1B 100.00 0 Neurodevelopmental disorders
    RBBP8 99.97 0 Neurodevelopmental disorders
    RBFOX1 98.87 0 Neurodevelopmental disorders
    RBL2 98.63 0 Neurodevelopmental disorders
    RBM10 99.23 0 Neurodevelopmental disorders
    RBM28 98.67 0 Neurodevelopmental disorders
    RELN 100.00 0 Neurodevelopmental disorders
    RERE 99.81 0 Neurodevelopmental disorders
    REV3L 99.86 0 Neurodevelopmental disorders
    RFT1 99.87 0 Neurodevelopmental disorders
    RFX3 100.00 0 Neurodevelopmental disorders
    RFX6 100.00 0 Neurodevelopmental disorders
    RIC8A 99.98 0 Neurodevelopmental disorders
    RIMS1 100.00 0 Neurodevelopmental disorders
    RIT1 100.00 0 Neurodevelopmental disorders
    RMND1 99.49 0 Neurodevelopmental disorders
    RMRP 100.00 0 Neurodevelopmental disorders
    RNASEH2A 100.00 0 Neurodevelopmental disorders
    RNASEH2B 94.58 0 Neurodevelopmental disorders
    RNASEH2C 100.00 0 Neurodevelopmental disorders
    RNASET2 100.00 0 Neurodevelopmental disorders
    RNF125 99.99 0 Neurodevelopmental disorders
    RNF213 100.00 0 Neurodevelopmental disorders
    ROGDI 91.40 0 Neurodevelopmental disorders
    RP2 99.78 0 Neurodevelopmental disorders
    RPGRIP1L 96.40 0 Neurodevelopmental disorders
    RPL15 99.14 0 Neurodevelopmental disorders
    RPS6KA2 100.00 0 Neurodevelopmental disorders
    RPS6KA3 96.78 0 Neurodevelopmental disorders
    RRAS 97.75 0 Neurodevelopmental disorders
    RTEL1 100.00 0 Neurodevelopmental disorders
    RTN2 99.44 0 Neurodevelopmental disorders
    RTN4IP1 100.00 0 Neurodevelopmental disorders
    RUNX1 99.48 0 Neurodevelopmental disorders
    RUVBL1 100.00 0 Neurodevelopmental disorders
    RYR1 99.39 0 Neurodevelopmental disorders
    RYR2 100.00 0 Neurodevelopmental disorders
    S100G 98.92 0 Neurodevelopmental disorders
    SACS 99.95 0 Neurodevelopmental disorders
    SALL1 100.00 0 Neurodevelopmental disorders
    SAMHD1 100.00 0 Neurodevelopmental disorders
    SARDH 99.83 0 Neurodevelopmental disorders
    SARS2 100.00 0 Neurodevelopmental disorders
    SATB2 99.34 0 Neurodevelopmental disorders
    SBF1 98.38 0 Neurodevelopmental disorders
    SC5D 100.00 0 Neurodevelopmental disorders
    SCAPER 99.94 0 Neurodevelopmental disorders
    SCN1A 100.00 0 Neurodevelopmental disorders
    SCN2A 100.00 0 Neurodevelopmental disorders
    SCN7A 100.00 0 Neurodevelopmental disorders
    SCN8A 100.00 0 Neurodevelopmental disorders
    SCN9A 99.99 0 Neurodevelopmental disorders
    SCO2 93.85 0 Neurodevelopmental disorders
    SDCCAG8 100.00 0 Neurodevelopmental disorders
    SDHA 95.31 0 Neurodevelopmental disorders
    SDK1 96.50 0 Neurodevelopmental disorders
    SERAC1 100.00 0 Neurodevelopmental disorders
    SETBP1 100.00 0 Neurodevelopmental disorders
    SETD1A 100.00 0 Neurodevelopmental disorders
    SETD1B 99.89 0 Neurodevelopmental disorders
    SETD2 100.00 0 Neurodevelopmental disorders
    SETD5 100.00 0 Neurodevelopmental disorders
    NR5A1 87.73 0 Neurodevelopmental disorders
    SFPQ 99.89 0 Neurodevelopmental disorders
    SGCA 100.00 0 Neurodevelopmental disorders
    SGSH 99.85 0 Neurodevelopmental disorders
    SHANK1 99.69 0 Neurodevelopmental disorders
    SHANK2 100.00 0 Neurodevelopmental disorders
    SHANK3 90.31 0 Neurodevelopmental disorders
    SHC1 100.00 0 Neurodevelopmental disorders
    SHH 99.47 0 Neurodevelopmental disorders
    SHOC2 100.00 0 Neurodevelopmental disorders
    SHOX 98.69 0 Neurodevelopmental disorders
    SHROOM4 99.98 0 Neurodevelopmental disorders
    SIL1 99.95 0 Neurodevelopmental disorders
    SIN3A 97.83 0 Neurodevelopmental disorders
    SIX3 99.61 0 Neurodevelopmental disorders
    HHAT 92.45 0 Neurodevelopmental disorders
    SLC12A6 100.00 0 Neurodevelopmental disorders
    SLC16A2 99.97 0 Neurodevelopmental disorders
    SLC17A5 100.00 0 Neurodevelopmental disorders
    SLC1A1 100.00 0 Neurodevelopmental disorders
    SLC1A4 99.98 0 Neurodevelopmental disorders
    SLC20A2 100.00 0 Neurodevelopmental disorders
    SLC24A2 99.82 0 Neurodevelopmental disorders
    SLC25A1 98.83 0 Neurodevelopmental disorders
    SLC25A12 100.00 0 Neurodevelopmental disorders
    SLC25A13 100.00 0 Neurodevelopmental disorders
    SLC25A22 100.00 0 Neurodevelopmental disorders
    SLC25A24 99.90 0 Neurodevelopmental disorders
    SLC26A9 100.00 0 Neurodevelopmental disorders
    SLC2A1 100.00 0 Neurodevelopmental disorders
    SLC2A2 99.95 0 Neurodevelopmental disorders
    SLC33A1 100.00 0 Neurodevelopmental disorders
    SLC35A2 100.00 0 Neurodevelopmental disorders
    SLC35C1 100.00 0 Neurodevelopmental disorders
    SLC39A8 98.92 0 Neurodevelopmental disorders
    SLC46A1 99.98 0 Neurodevelopmental disorders
    SLC4A4 100.00 0 Neurodevelopmental disorders
    SLC5A2 99.99 0 Neurodevelopmental disorders
    SLC5A5 99.97 0 Neurodevelopmental disorders
    SLC6A1 100.00 0 Neurodevelopmental disorders
    SLC6A17 100.00 0 Neurodevelopmental disorders
    SLC6A3 100.00 0 Neurodevelopmental disorders
    SLC6A4 100.00 0 Neurodevelopmental disorders
    SLC6A8 99.41 0 Neurodevelopmental disorders
    SLC7A7 100.00 0 Neurodevelopmental disorders
    SLC9A6 99.66 0 Neurodevelopmental disorders
    SLC9A7 95.89 0 Neurodevelopmental disorders
    SLC9A9 100.00 0 Neurodevelopmental disorders
    SLCO1B1 99.89 0 Neurodevelopmental disorders
    SLCO1B3 99.94 0 Neurodevelopmental disorders
    SLX4 100.00 0 Neurodevelopmental disorders
    SMAD2 100.00 0 Neurodevelopmental disorders
    SMAD4 98.47 0 Neurodevelopmental disorders
    SMARCA2 98.99 0 Neurodevelopmental disorders
    SMARCA4 100.00 0 Neurodevelopmental disorders
    SMARCB1 100.00 0 Neurodevelopmental disorders
    SMARCC2 100.00 0 Neurodevelopmental disorders
    SMARCE1 98.46 0 Neurodevelopmental disorders
    SMC1A 99.87 0 Neurodevelopmental disorders
    SMC3 100.00 0 Neurodevelopmental disorders
    SMG6 96.90 0 Neurodevelopmental disorders
    SMOC1 98.05 0 Neurodevelopmental disorders
    SMPD1 100.00 0 Neurodevelopmental disorders
    SNAP29 100.00 0 Neurodevelopmental disorders
    SNIP1 100.00 0 Neurodevelopmental disorders
    SNRPA 100.00 0 Neurodevelopmental disorders
    SNX14 99.98 0 Neurodevelopmental disorders
    SNX19 99.99 0 Neurodevelopmental disorders
    SOBP 95.50 0 Neurodevelopmental disorders
    SON 100.00 0 Neurodevelopmental disorders
    SOS1 100.00 0 Neurodevelopmental disorders
    SOS2 99.96 0 Neurodevelopmental disorders
    SOX10 95.36 0 Neurodevelopmental disorders
    SOX11 100.00 0 Neurodevelopmental disorders
    SOX2 95.35 0 Neurodevelopmental disorders
    SOX3 97.06 0 Neurodevelopmental disorders
    SOX5 100.00 0 Neurodevelopmental disorders
    SPAST 99.83 0 Neurodevelopmental disorders
    AFG2A 99.97 0 Neurodevelopmental disorders
    SPG11 100.00 0 Neurodevelopmental disorders
    SPG7 95.78 0 Neurodevelopmental disorders
    SPR 99.98 0 Neurodevelopmental disorders
    SPRED1 100.00 0 Neurodevelopmental disorders
    SPTAN1 100.00 0 Neurodevelopmental disorders
    SPTLC1 99.27 0 Neurodevelopmental disorders
    SRCAP 100.00 0 Neurodevelopmental disorders
    SRD5A3 98.61 0 Neurodevelopmental disorders
    SREBF2 99.91 0 Neurodevelopmental disorders
    SRGAP3 100.00 0 Neurodevelopmental disorders
    SRPX2 99.04 0 Neurodevelopmental disorders
    ST3GAL3 100.00 0 Neurodevelopmental disorders
    ST3GAL5 90.70 0 Neurodevelopmental disorders
    STAG1 100.00 0 Neurodevelopmental disorders
    STAT5B 100.00 0 Neurodevelopmental disorders
    STIL 100.00 0 Neurodevelopmental disorders
    STRA6 100.00 0 Neurodevelopmental disorders
    STS 99.91 0 Neurodevelopmental disorders
    STT3A 100.00 0 Neurodevelopmental disorders
    STT3B 100.00 0 Neurodevelopmental disorders
    STX11 100.00 0 Neurodevelopmental disorders
    STXBP1 100.00 0 Neurodevelopmental disorders
    STXBP5 100.00 0 Neurodevelopmental disorders
    SUCLA2 99.86 0 Neurodevelopmental disorders
    SUCLG1 93.27 0 Neurodevelopmental disorders
    SUOX 100.00 0 Neurodevelopmental disorders
    SUPT16H 100.00 0 Neurodevelopmental disorders
    SURF1 82.91 0 Neurodevelopmental disorders
    KMT5B 100.00 0 Neurodevelopmental disorders
    SYN1 96.00 0 Neurodevelopmental disorders
    SYNE1 100.00 0 Neurodevelopmental disorders
    SYNGAP1 99.76 0 Neurodevelopmental disorders
    SYNM 92.93 0 Neurodevelopmental disorders
    SYNPO 100.00 0 Neurodevelopmental disorders
    SYP 97.84 0 Neurodevelopmental disorders
    SYT14 92.28 0 Neurodevelopmental disorders
    SYT3 99.96 0 Neurodevelopmental disorders
    TAF1 99.98 0 Neurodevelopmental disorders
    TAF13 100.00 0 Neurodevelopmental disorders
    TAF2 100.00 0 Neurodevelopmental disorders
    TAT 100.00 0 Neurodevelopmental disorders
    TBC1D24 99.99 0 Neurodevelopmental disorders
    TBC1D7 100.00 0 Neurodevelopmental disorders
    TBCE 100.00 0 Neurodevelopmental disorders
    TBCK 100.00 0 Neurodevelopmental disorders
    TBR1 99.60 0 Neurodevelopmental disorders
    TBX1 83.55 0 Neurodevelopmental disorders
    TCF20 100.00 0 Neurodevelopmental disorders
    TCF3 99.97 0 Neurodevelopmental disorders
    TCF4 100.00 0 Neurodevelopmental disorders
    TCF7L2 100.00 0 Neurodevelopmental disorders
    TDG 100.00 0 Neurodevelopmental disorders
    TECR 100.00 0 Neurodevelopmental disorders
    TELO2 98.19 0 Neurodevelopmental disorders
    TENM1 99.91 0 Neurodevelopmental disorders
    TET3 100.00 0 Neurodevelopmental disorders
    TFAP2A 99.96 0 Neurodevelopmental disorders
    TGFBR1 91.80 0 Neurodevelopmental disorders
    TGFBR2 100.00 0 Neurodevelopmental disorders
    TGIF1 100.00 0 Neurodevelopmental disorders
    TGM1 100.00 0 Neurodevelopmental disorders
    TH 98.79 0 Neurodevelopmental disorders
    THOC2 99.62 0 Neurodevelopmental disorders
    THOC6 100.00 0 Neurodevelopmental disorders
    THRA 100.00 0 Neurodevelopmental disorders
    THRB 100.00 0 Neurodevelopmental disorders
    THSD1 100.00 0 Neurodevelopmental disorders
    TIMM8A 99.00 0 Neurodevelopmental disorders
    TINF2 99.94 0 Neurodevelopmental disorders
    TMCO1 100.00 0 Neurodevelopmental disorders
    TMEM107 100.00 0 Neurodevelopmental disorders
    TMEM135 100.00 0 Neurodevelopmental disorders
    TMEM165 91.64 0 Neurodevelopmental disorders
    TMEM216 99.87 0 Neurodevelopmental disorders
    TMEM231 100.00 0 Neurodevelopmental disorders
    TMEM237 99.85 0 Neurodevelopmental disorders
    TMEM67 99.95 0 Neurodevelopmental disorders
    TMEM70 100.00 0 Neurodevelopmental disorders
    TMLHE 99.11 0 Neurodevelopmental disorders
    TNIK 100.00 0 Neurodevelopmental disorders
    TNK2 99.86 0 Neurodevelopmental disorders
    TNRC6B 99.93 0 Neurodevelopmental disorders
    TOPORS 100.00 0 Neurodevelopmental disorders
    TOR1A 99.70 0 Neurodevelopmental disorders
    TDO2 100.00 0 Neurodevelopmental disorders
    TPK1 99.99 0 Neurodevelopmental disorders
    THPO 99.80 0 Neurodevelopmental disorders
    ACD 99.99 0 Neurodevelopmental disorders
    TPTE 99.28 0 Neurodevelopmental disorders
    TRAF7 99.04 0 Neurodevelopmental disorders
    TRAPPC11 99.97 0 Neurodevelopmental disorders
    TRAPPC12 99.96 0 Neurodevelopmental disorders
    TRAPPC9 99.15 0 Neurodevelopmental disorders
    TREX1 100.00 0 Neurodevelopmental disorders
    TRHR 100.00 0 Neurodevelopmental disorders
    TRIM10 100.00 0 Neurodevelopmental disorders
    TRIM3 100.00 0 Neurodevelopmental disorders
    TRIM32 100.00 0 Neurodevelopmental disorders
    TRIO 98.86 0 Neurodevelopmental disorders
    TRIP12 100.00 0 Neurodevelopmental disorders
    TRMT10A 100.00 0 Neurodevelopmental disorders
    TRPM3 100.00 0 Neurodevelopmental disorders
    TRPM6 100.00 0 Neurodevelopmental disorders
    TRPV4 100.00 0 Neurodevelopmental disorders
    TRPV6 100.00 0 Neurodevelopmental disorders
    TSC1 100.00 0 Neurodevelopmental disorders
    TSC2 99.94 0 Neurodevelopmental disorders
    TSEN54 91.60 0 Neurodevelopmental disorders
    TSHR 100.00 0 Neurodevelopmental disorders
    TSPAN7 99.05 0 Neurodevelopmental disorders
    SKIC3 99.99 0 Neurodevelopmental disorders
    TTC8 99.73 0 Neurodevelopmental disorders
    TTC9 91.41 0 Neurodevelopmental disorders
    TTI2 100.00 0 Neurodevelopmental disorders
    TTN 100.00 0 Neurodevelopmental disorders
    TTR 100.00 0 Neurodevelopmental disorders
    TUBA1A 100.00 0 Neurodevelopmental disorders
    TUBA8 99.98 0 Neurodevelopmental disorders
    TUBB 100.00 0 Neurodevelopmental disorders
    TUBB2B 100.00 0 Neurodevelopmental disorders
    TUBB3 99.01 0 Neurodevelopmental disorders
    TUBGCP4 99.17 0 Neurodevelopmental disorders
    TUBGCP6 100.00 0 Neurodevelopmental disorders
    TUSC3 100.00 0 Neurodevelopmental disorders
    TWIST1 97.62 0 Neurodevelopmental disorders
    UBE2A 100.00 0 Neurodevelopmental disorders
    UBE3A 100.00 0 Neurodevelopmental disorders
    UBE3B 100.00 0 Neurodevelopmental disorders
    UBR1 100.00 0 Neurodevelopmental disorders
    UBTF 100.00 0 Neurodevelopmental disorders
    UNC50 100.00 0 Neurodevelopmental disorders
    UNC80 99.98 0 Neurodevelopmental disorders
    UPB1 100.00 0 Neurodevelopmental disorders
    UPF3B 99.86 0 Neurodevelopmental disorders
    UROC1 99.97 0 Neurodevelopmental disorders
    USP9X 100.00 0 Neurodevelopmental disorders
    UTP6 100.00 0 Neurodevelopmental disorders
    VCP 97.10 0 Neurodevelopmental disorders
    VLDLR 96.00 0 Neurodevelopmental disorders
    VPS13B 100.00 0 Neurodevelopmental disorders
    VPS39 99.94 0 Neurodevelopmental disorders
    VPS4A 100.00 0 Neurodevelopmental disorders
    VRK1 100.00 0 Neurodevelopmental disorders
    WAC 100.00 0 Neurodevelopmental disorders
    WDFY3 100.00 0 Neurodevelopmental disorders
    WDR11 100.00 0 Neurodevelopmental disorders
    WDR13 99.05 0 Neurodevelopmental disorders
    WDR19 100.00 0 Neurodevelopmental disorders
    WDR26 99.54 0 Neurodevelopmental disorders
    WDR4 100.00 0 Neurodevelopmental disorders
    WDR45 100.00 0 Neurodevelopmental disorders
    WDR45B 99.94 0 Neurodevelopmental disorders
    WDR62 100.00 0 Neurodevelopmental disorders
    WDR73 100.00 0 Neurodevelopmental disorders
    WDR81 99.63 0 Neurodevelopmental disorders
    NSD2 100.00 0 Neurodevelopmental disorders
    WNT2 100.00 0 Neurodevelopmental disorders
    WRN 100.00 0 Neurodevelopmental disorders
    WWOX 100.00 0 Neurodevelopmental disorders
    XPA 98.10 0 Neurodevelopmental disorders
    XPNPEP3 100.00 0 Neurodevelopmental disorders
    XPO5 100.00 0 Neurodevelopmental disorders
    XYLT1 89.98 0 Neurodevelopmental disorders
    YAP1 99.86 0 Neurodevelopmental disorders
    YEATS2 100.00 0 Neurodevelopmental disorders
    YTHDC1 99.99 0 Neurodevelopmental disorders
    YWHAE 91.19 0 Neurodevelopmental disorders
    YY1 99.76 0 Neurodevelopmental disorders
    ZBTB11 100.00 0 Neurodevelopmental disorders
    ZBTB16 100.00 0 Neurodevelopmental disorders
    ZBTB18 99.54 0 Neurodevelopmental disorders
    ZBTB20 100.00 0 Neurodevelopmental disorders
    ZBTB24 100.00 0 Neurodevelopmental disorders
    ZC3H14 99.55 0 Neurodevelopmental disorders
    ZC3H4 99.95 0 Neurodevelopmental disorders
    ZCCHC12 100.00 0 Neurodevelopmental disorders
    ZDHHC15 98.46 0 Neurodevelopmental disorders
    ZDHHC9 100.00 0 Neurodevelopmental disorders
    ZEB2 99.96 0 Neurodevelopmental disorders
    ZFHX4 100.00 0 Neurodevelopmental disorders
    ZFP57 100.00 0 Neurodevelopmental disorders
    ZFYVE26 100.00 0 Neurodevelopmental disorders
    ZIC2 95.66 0 Neurodevelopmental disorders
    ZMYM3 99.98 0 Neurodevelopmental disorders
    ZMYND11 100.00 0 Neurodevelopmental disorders
    ZPR1 100.00 0 Neurodevelopmental disorders
    ZNF292 100.00 0 Neurodevelopmental disorders
    ZNF407 100.00 0 Neurodevelopmental disorders
    ZNF41 100.00 0 Neurodevelopmental disorders
    ZNF526 100.00 0 Neurodevelopmental disorders
    ZNF559 100.00 0 Neurodevelopmental disorders
    ZNF592 100.00 0 Neurodevelopmental disorders
    ZNF594 100.00 0 Neurodevelopmental disorders
    ZNF599 99.76 0 Neurodevelopmental disorders
    ZNF674 100.00 0 Neurodevelopmental disorders
    ZNF697 99.70 0 Neurodevelopmental disorders
    ZNF711 99.98 0 Neurodevelopmental disorders
    ZNF774 100.00 0 Neurodevelopmental disorders
    ZNF8 100.00 0 Neurodevelopmental disorders
    ZNF81 99.55 0 Neurodevelopmental disorders
    ZNF827 100.00 0 Neurodevelopmental disorders
    ZNRF3 94.23 0 Neurodevelopmental disorders
    ZWILCH 100.00 0 Neurodevelopmental disorders
  • Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 100.00 0 No comment
    ABCC6 100.00 0 No comment
    ABCC9 100.00 0 No comment
    ABCD1 99.93 0 No comment
    ABCD4 100.00 0 No comment
    ABCG5 100.00 0 No comment
    ABHD5 99.98 0 No comment
    ABI2 100.00 0 No comment
    ACAD9 100.00 0 No comment
    ACAT1 97.28 0 No comment
    ACO2 100.00 0 No comment
    ACOX1 100.00 0 No comment
    ACSF3 100.00 0 No comment
    ACSL4 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
    ADAT3 97.38 0 No comment
    ADCY5 94.52 0 No comment
    ADGRG1 100.00 0 No comment
    ADK 100.00 0 No comment
    ADNP 100.00 0 No comment
    ADRA2B 100.00 0 No comment
    ADSL 100.00 0 No comment
    AFF2 100.00 0 No comment
    AFF3 99.89 0 No comment
    AFP 100.00 0 No comment
    AGA 100.00 0 No comment
    AGBL4 100.00 0 No comment
    AGL 99.98 0 No comment
    AGPAT2 96.18 0 No comment
    AGXT 100.00 0 No comment
    AGTR2 100.00 0 No comment
    AHCY 100.00 0 No comment
    AHDC1 100.00 0 No comment
    AHI1 100.00 0 No comment
    AIFM1 100.00 0 No comment
    AIMP1 100.00 0 No comment
    AK1 100.00 0 No comment
    AKT1 100.00 0 No comment
    AKT1S1 99.49 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
    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
    ALG9 98.65 0 No comment
    ALX1 100.00 0 No comment
    ALX4 99.70 0 No comment
    AMER1 100.00 0 No comment
    AMPD2 100.00 0 No comment
    AMT 99.94 0 No comment
    ANK2 100.00 0 No comment
    ANK3 100.00 0 No comment
    ANKH 100.00 0 No comment
    ANKRD11 100.00 0 No comment
    ANO10 100.00 0 No comment
    ANO3 100.00 0 No comment
    ANO5 100.00 0 No comment
    ANTXR1 100.00 0 No comment
    AP1S1 100.00 0 No comment
    AP1S2 100.00 0 No comment
    AP3B1 100.00 0 No comment
    AP4B1 100.00 0 No comment
    AP4E1 100.00 0 No comment
    AP4M1 100.00 0 No comment
    AP4S1 87.40 0 No comment
    APAF1 100.00 0 No comment
    APC 100.00 0 No comment
    APTX 100.00 0 No comment
    AQP7 100.00 0 No comment
    AR 99.29 0 No comment
    ARFGEF2 100.00 0 No comment
    ARG1 100.00 0 No comment
    ARHGEF4 100.00 0 No comment
    ARHGEF6 100.00 0 No comment
    ARHGEF7 99.95 0 No comment
    ARHGEF9 100.00 0 No comment
    ARID1A 94.64 0 No comment
    ARID1B 92.99 0 No comment
    ARID2 100.00 0 No comment
    ARL13B 100.00 0 No comment
    ARL6 100.00 0 No comment
    ARSL 100.00 0 No comment
    ARX 78.98 0 No comment
    ASH1L 100.00 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
    ASTN2 91.86 0 No comment
    ASXL1 99.91 0 No comment
    ASXL3 100.00 0 No comment
    ATIC 99.06 0 No comment
    ATL1 100.00 0 No comment
    ATM 100.00 0 No comment
    ATP13A2 99.17 0 No comment
    ATP1A2 100.00 0 No comment
    ATP2A2 100.00 0 No comment
    ATP6AP2 99.95 0 No comment
    ATP6V0A2 100.00 0 No comment
    ATP7A 100.00 0 No comment
    ATP8A2 99.93 0 No comment
    ATRX 100.00 0 No comment
    ATXN1 100.00 0 No comment
    AUH 96.44 0 No comment
    AUTS2 98.20 0 No comment
    NLRP3 100.00 0 No comment
    AVPR2 100.00 0 No comment
    AXIN1 100.00 0 No comment
    B3GLCT 94.89 0 No comment
    B4GALT1 100.00 0 No comment
    B4GALT7 93.23 0 No comment
    BBS1 100.00 0 No comment
    BBS10 100.00 0 No comment
    BBS12 100.00 0 No comment
    BBS2 100.00 0 No comment
    BBS4 100.00 0 No comment
    BBS5 100.00 0 No comment
    BBS7 100.00 0 No comment
    BBS9 100.00 0 No comment
    BCKDHA 100.00 0 No comment
    BCKDHB 100.00 0 No comment
    BCL11A 100.00 0 No comment
    BCOR 100.00 0 No comment
    BCS1L 100.00 0 No comment
    BIN1 100.00 0 No comment
    BIRC6 100.00 0 No comment
    BLM 100.00 0 No comment
    BRAF 96.97 0 No comment
    BRCA2 100.00 0 No comment
    BRIP1 100.00 0 No comment
    BRWD3 100.00 0 No comment
    BSCL2 100.00 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
    CA2 100.00 0 No comment
    CA8 100.00 0 No comment
    CACNA1A 98.78 0 No comment
    CACNA1B 96.03 0 No comment
    CACNA1C 100.00 0 No comment
    CACNA1D 100.00 0 No comment
    CACNA1F 99.89 0 No comment
    CACNA1G 100.00 0 No comment
    CACNA1H 97.35 0 No comment
    CACNA2D3 98.60 0 No comment
    CACNB2 100.00 0 No comment
    CACNG2 100.00 0 No comment
    CALM1 100.00 0 No comment
    CAMK2B 99.93 0 No comment
    CAMTA1 99.39 0 No comment
    CANT1 100.00 0 No comment
    CASK 100.00 0 No comment
    CBL 100.00 0 No comment
    CBS 100.00 0 No comment
    CC2D1A 100.00 0 No comment
    CC2D2A 98.16 0 No comment
    CCAR2 100.00 0 No comment
    CCBE1 99.97 0 No comment
    CCDC22 99.93 0 No comment
    CCDC39 100.00 0 No comment
    CCDC78 100.00 0 No comment
    CCDC88C 99.92 0 No comment
    CCNT1 100.00 0 No comment
    CCSER1 100.00 0 No comment
    CD163L1 100.00 0 No comment
    CDH15 97.06 0 No comment
    CDK5RAP2 100.00 0 No comment
    CDK6 100.00 0 No comment
    CDKL5 100.00 0 No comment
    CDKN1C 62.25 0 No comment
    CDON 100.00 0 No comment
    CELSR1 93.72 0 No comment
    CENPE 100.00 0 No comment
    CENPJ 100.00 0 No comment
    CEP135 100.00 0 No comment
    CEP152 100.00 0 No comment
    CEP290 99.99 0 No comment
    CEP41 100.00 0 No comment
    CEP55 100.00 0 No comment
    CEP57 100.00 0 No comment
    CFAP53 100.00 0 No comment
    CHAMP1 100.00 0 No comment
    CHAT 100.00 0 No comment
    CHD1 100.00 0 No comment
    CHD2 100.00 0 No comment
    CHD3 97.58 0 No comment
    CHD7 100.00 0 No comment
    CHD8 100.00 0 No comment
    CHKB 99.69 0 No comment
    CHRNA2 100.00 0 No comment
    CHRNA4 97.18 0 No comment
    CHRND 100.00 0 No comment
    CIC 99.99 0 No comment
    CLCN4 100.00 0 No comment
    CLCN7 94.99 0 No comment
    CLCNKB 100.00 0 No comment
    CLIC2 100.00 0 No comment
    CLIP1 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
    CLTC 100.00 0 No comment
    CMIP 99.97 0 No comment
    CNKSR2 100.00 0 No comment
    CNOT1 100.00 0 No comment
    CNOT3 100.00 0 No comment
    CNOT4 100.00 0 No comment
    CNOT6 100.00 0 No comment
    CNTN3 100.00 0 No comment
    CNTN4 100.00 0 No comment
    CNTNAP2 99.85 0 No comment
    COG1 99.24 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
    COL11A1 100.00 0 No comment
    COL1A2 99.93 0 No comment
    COL4A1 98.71 0 No comment
    COL4A2 100.00 0 No comment
    CERT1 100.00 0 No comment
    COLEC11 100.00 0 No comment
    COQ2 97.15 0 No comment
    COQ8A 100.00 0 No comment
    COX10 100.00 0 No comment
    COX15 100.00 0 No comment
    CP 100.00 0 No comment
    CYP2A6 100.00 0 No comment
    CPLANE1 100.00 0 No comment
    CYP21A2 100.00 0 No comment
    CRADD 100.00 0 No comment
    CRBN 100.00 0 No comment
    CREB1 100.00 0 No comment
    CREBBP 100.00 0 No comment
    CRPPA 95.75 0 No comment
    CSTF2T 100.00 0 No comment
    CTC1 100.00 0 No comment
    CTCF 100.00 0 No comment
    CTDP1 89.61 0 No comment
    CTNNB1 100.00 0 No comment
    CTNND2 93.57 0 No comment
    CTSA 100.00 0 No comment
    CTSD 99.45 0 No comment
    CTTNBP2 99.32 0 No comment
    CUBN 100.00 0 No comment
    CUL3 100.00 0 No comment
    CUL4B 100.00 0 No comment
    CUL5 100.00 0 No comment
    CUX2 100.00 0 No comment
    CYB5R3 96.25 0 No comment
    CYFIP1 100.00 0 No comment
    CYP27A1 99.68 0 No comment
    D2HGDH 100.00 0 No comment
    DAB1 100.00 0 No comment
    DAG1 100.00 0 No comment
    DAGLA 100.00 0 No comment
    DARS2 100.00 0 No comment
    DBT 100.00 0 No comment
    DCAF17 96.47 0 No comment
    DCLK2 100.00 0 No comment
    DCX 100.00 0 No comment
    DDHD2 100.00 0 No comment
    DDX11 100.00 0 No comment
    DDX3X 100.00 0 No comment
    DEAF1 87.03 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
    DHTKD1 99.98 0 No comment
    DHX9 100.00 0 No comment
    DIAPH1 99.15 0 No comment
    DIAPH3 100.00 0 No comment
    DIP2A 99.92 0 No comment
    DIP2B 99.88 0 No comment
    DIPK2A 99.79 0 No comment
    DISC1 86.36 0 No comment
    DKC1 100.00 0 No comment
    DLD 100.00 0 No comment
    DLG2 100.00 0 No comment
    DLG3 99.83 0 No comment
    DLG4 100.00 0 No comment
    DMD 100.00 0 No comment
    DMPK 99.97 0 No comment
    DNAH5 100.00 0 No comment
    DNAJC19 100.00 0 No comment
    DNM1 94.44 0 No comment
    DNMT1 100.00 0 No comment
    DNMT3A 100.00 0 No comment
    DNMT3B 100.00 0 No comment
    DOCK8 99.43 0 No comment
    DPAGT1 100.00 0 No comment
    DPM1 100.00 0 No comment
    DPP6 96.95 0 No comment
    DPYD 100.00 0 No comment
    DSCAM 100.00 0 No comment
    DST 100.00 0 No comment
    DUSP15 83.99 0 No comment
    DYM 100.00 0 No comment
    DYNC1H1 100.00 0 No comment
    DYRK1A 100.00 0 No comment
    GLB1 100.00 0 No comment
    ECM2 100.00 0 No comment
    EFCAB5 97.32 0 No comment
    EFNB1 100.00 0 No comment
    EFTUD2 100.00 0 No comment
    EHMT1 98.85 0 No comment
    EIF2AK3 95.52 0 No comment
    EIF2S3 100.00 0 No comment
    EIF3G 100.00 0 No comment
    EIF4A1 100.00 0 No comment
    EIF4G1 100.00 0 No comment
    ELK1 100.00 0 No comment
    ELOVL4 100.00 0 No comment
    ELP2 100.00 0 No comment
    EML1 97.08 0 No comment
    EMX2 100.00 0 No comment
    EN2 88.10 0 No comment
    EP300 100.00 0 No comment
    EP400 100.00 0 No comment
    EPB41L1 100.00 0 No comment
    EPHA5 99.98 0 No comment
    EPHB2 97.39 0 No comment
    ERBB4 100.00 0 No comment
    ERCC2 100.00 0 No comment
    ERCC3 100.00 0 No comment
    ERCC5 100.00 0 No comment
    ERCC6 100.00 0 No comment
    ERCC8 100.00 0 No comment
    ERLIN2 100.00 0 No comment
    ESCO2 100.00 0 No comment
    ETFB 100.00 0 No comment
    ETHE1 99.88 0 No comment
    EXOSC3 100.00 0 No comment
    EXT1 100.00 0 No comment
    EZH2 100.00 0 No comment
    EZR 100.00 0 No comment
    F5 100.00 0 No comment
    FAAH2 100.00 0 No comment
    HYCC1 100.00 0 No comment
    FANCB 100.00 0 No comment
    FANCD2 100.00 0 No comment
    FANCG 100.00 0 No comment
    FBLN5 100.00 0 No comment
    FBN1 100.00 0 No comment
    FBN2 100.00 0 No comment
    FBXO31 91.75 0 No comment
    FBXO33 90.47 0 No comment
    FEZF2 97.53 0 No comment
    FGD1 99.39 0 No comment
    FGF12 100.00 0 No comment
    FGF14 99.99 0 No comment
    FGFR1 100.00 0 No comment
    FGFR2 100.00 0 No comment
    FGFR3 99.26 0 No comment
    FH 100.00 0 No comment
    FIGN 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNA 100.00 0 No comment
    FLVCR1 100.00 0 No comment
    FMN2 99.94 0 No comment
    FMR1 100.00 0 No comment
    FOLR1 100.00 0 No comment
    FOXG1 85.88 0 No comment
    FOXP1 100.00 0 No comment
    FOXP2 100.00 0 No comment
    FOXP3 100.00 0 No comment
    FRAS1 100.00 0 No comment
    FRMPD4 100.00 0 No comment
    FTCD 98.36 0 No comment
    FTO 100.00 0 No comment
    FTSJ1 100.00 0 No comment
    FUCA1 100.00 0 No comment
    G6PC3 100.00 0 No comment
    GABRA1 100.00 0 No comment
    GABRA5 100.00 0 No comment
    GABRB2 100.00 0 No comment
    GABRB3 99.79 0 No comment
    GABRG2 92.03 0 No comment
    GABRG3 99.96 0 No comment
    GAD1 100.00 0 No comment
    GALE 100.00 0 No comment
    GALK1 99.95 0 No comment
    GALNT18 100.00 0 No comment
    GALT 100.00 0 No comment
    GAMT 98.60 0 No comment
    GAN 99.52 0 No comment
    GARS1 99.53 0 No comment
    GAS2 100.00 0 No comment
    GATAD2B 100.00 0 No comment
    GATM 99.26 0 No comment
    GBA1 100.00 0 No comment
    GBE1 100.00 0 No comment
    GCH1 96.30 0 No comment
    GCK 100.00 0 No comment
    GCOM1 94.20 0 No comment
    GCSH 76.04 0 No comment
    GDI1 100.00 0 No comment
    GFAP 100.00 0 No comment
    GFM1 100.00 0 No comment
    GHR 99.82 0 No comment
    GIGYF1 100.00 0 No comment
    GJB1 99.54 0 No comment
    GJB6 100.00 0 No comment
    GJC2 81.91 0 No comment
    GK 99.94 0 No comment
    GLDC 96.53 0 No comment
    GLI2 95.11 0 No comment
    GLI3 100.00 0 No comment
    GLO1 100.00 0 No comment
    GLRA1 100.00 0 No comment
    GLUL 100.00 0 No comment
    GLYCTK 100.00 0 No comment
    GM2A 100.00 0 No comment
    GMPPA 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNAO1 100.00 0 No comment
    GNAQ 100.00 0 No comment
    GNAS 98.96 0 No comment
    GNPAT 100.00 0 No comment
    GNPTAB 100.00 0 No comment
    GNPTG 94.69 0 No comment
    GNRHR 100.00 0 No comment
    GNS 100.00 0 No comment
    GORASP2 99.92 0 No comment
    GP1BB 25.16 0 No comment
    GPC3 100.00 0 No comment
    GPHN 100.00 0 No comment
    GPR37 100.00 0 No comment
    GPT2 96.29 0 No comment
    GRIA3 100.00 0 No comment
    GRID2 100.00 0 No comment
    GRIK2 100.00 0 No comment
    GRIN1 99.97 0 No comment
    GRIN2A 100.00 0 No comment
    GRIN2B 100.00 0 No comment
    GRIN3B 86.11 0 No comment
    GRM1 100.00 0 No comment
    GSE1 99.97 0 No comment
    GSPT2 100.00 0 No comment
    GSS 100.00 0 No comment
    GTF2H5 100.00 0 No comment
    GTF2IRD1 100.00 0 No comment
    GTF3C1 100.00 0 No comment
    GUSB 100.00 0 No comment
    GYS2 100.00 0 No comment
    HAL 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
    HDAC4 100.00 0 No comment
    HDAC6 100.00 0 No comment
    HDAC8 100.00 0 No comment
    HDAC9 100.00 0 No comment
    HECTD1 100.00 0 No comment
    HECW2 100.00 0 No comment
    HEPACAM 96.82 0 No comment
    HERC1 100.00 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
    H4C2 100.00 0 No comment
    HIVEP2 100.00 0 No comment
    HLCS 100.00 0 No comment
    HMGA2 81.94 0 No comment
    HNRNPU 99.54 0 No comment
    HNRNPUL1 99.73 0 No comment
    HOXA1 100.00 0 No comment
    HOXB1 100.00 0 No comment
    HOXD10 100.00 0 No comment
    HPD 100.00 0 No comment
    HPRT1 94.60 0 No comment
    HRAS 100.00 0 No comment
    HSD17B10 100.00 0 No comment
    HSPA4 100.00 0 No comment
    HSPD1 99.53 0 No comment
    HTR2A 100.00 0 No comment
    HUWE1 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
    IFT172 100.00 0 No comment
    IGBP1 100.00 0 No comment
    IGF1 100.00 0 No comment
    IGF1R 100.00 0 No comment
    IKBKG 99.74 0 No comment
    IL1RAPL1 100.00 0 No comment
    ILF2 100.00 0 No comment
    INPP5E 99.54 0 No comment
    INSR 97.31 0 No comment
    IQSEC2 99.73 0 No comment
    IRS1 100.00 0 No comment
    IRX5 94.92 0 No comment
    ITGA7 100.00 0 No comment
    ITGB3 97.94 0 No comment
    ITPR1 100.00 0 No comment
    JADE2 100.00 0 No comment
    JAG1 99.66 0 No comment
    JAM3 100.00 0 No comment
    JUP 100.00 0 No comment
    KANK1 100.00 0 No comment
    KANSL1 100.00 0 No comment
    KAT6A 100.00 0 No comment
    KAT6B 100.00 0 No comment
    KATNAL2 100.00 0 No comment
    KCNA1 100.00 0 No comment
    KCNH1 100.00 0 No comment
    KCNJ10 100.00 0 No comment
    KCNJ11 100.00 0 No comment
    KCNK9 100.00 0 No comment
    KCNMA1 99.94 0 No comment
    KCNQ2 99.98 0 No comment
    KCNQ3 96.44 0 No comment
    KCNQ4 92.42 0 No comment
    KCNT1 99.74 0 No comment
    KCTD7 97.35 0 No comment
    KDM5A 100.00 0 No comment
    KDM5B 100.00 0 No comment
    KDM5C 100.00 0 No comment
    KDM6A 100.00 0 No comment
    KDM6B 99.91 0 No comment
    BLTP1 100.00 0 No comment
    KIF11 100.00 0 No comment
    KIF1A 99.90 0 No comment
    KIFBP 100.00 0 No comment
    KIF21A 99.23 0 No comment
    KIF2A 98.88 0 No comment
    KIF4A 100.00 0 No comment
    KIF5A 100.00 0 No comment
    KIF5C 100.00 0 No comment
    KIF7 96.94 0 No comment
    KIRREL3 100.00 0 No comment
    KIT 100.00 0 No comment
    KLC2 100.00 0 No comment
    KLF8 100.00 0 No comment
    KMT2A 98.66 0 No comment
    KMT2C 100.00 0 No comment
    KMT2D 100.00 0 No comment
    KMT2E 100.00 0 No comment
    KMT5B 100.00 0 No comment
    KPTN 100.00 0 No comment
    KRAS 100.00 0 No comment
    KRBOX4 100.00 0 No comment
    KRT24 100.00 0 No comment
    L1CAM 100.00 0 No comment
    L2HGDH 99.96 0 No comment
    LAMA1 99.93 0 No comment
    LAMA2 100.00 0 No comment
    LAMB1 100.00 0 No comment
    LAMC3 97.51 0 No comment
    LAMP2 100.00 0 No comment
    LARGE1 100.00 0 No comment
    LARP7 100.00 0 No comment
    LAS1L 100.00 0 No comment
    LBR 100.00 0 No comment
    LCT 100.00 0 No comment
    LHX3 94.36 0 No comment
    LIG4 100.00 0 No comment
    LINS1 100.00 0 No comment
    LMBRD1 100.00 0 No comment
    LRP1 100.00 0 No comment
    LRP2 99.96 0 No comment
    LRP5 97.87 0 No comment
    LRPPRC 99.14 0 No comment
    LRRC7 100.00 0 No comment
    LYST 100.00 0 No comment
    MACF1 100.00 0 No comment
    MAGEL2 99.43 0 No comment
    MAGT1 100.00 0 No comment
    MAN1B1 99.99 0 No comment
    MAN2B1 100.00 0 No comment
    MANBA 99.97 0 No comment
    MAOA 99.95 0 No comment
    MAP2 100.00 0 No comment
    MAP2K1 100.00 0 No comment
    MAP2K2 99.98 0 No comment
    MAPK1 93.93 0 No comment
    MAPT 100.00 0 No comment
    MAT1A 100.00 0 No comment
    MBD3 99.22 0 No comment
    MBD5 100.00 0 No comment
    MBTPS2 100.00 0 No comment
    MCCC1 100.00 0 No comment
    MCCC2 99.99 0 No comment
    MCOLN1 97.27 0 No comment
    MCPH1 100.00 0 No comment
    MDM2 100.00 0 No comment
    MECP2 98.28 0 No comment
    MED12 99.96 0 No comment
    MED13L 100.00 0 No comment
    MED17 100.00 0 No comment
    MED23 100.00 0 No comment
    MEF2C 100.00 0 No comment
    MET 100.00 0 No comment
    METTL23 100.00 0 No comment
    MFRP 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MGAT2 100.00 0 No comment
    MIB1 100.00 0 No comment
    MID1 100.00 0 No comment
    MID2 100.00 0 No comment
    MIR222 100.00 0 No comment
    MKKS 100.00 0 No comment
    MLH1 100.00 0 No comment
    MLYCD 85.50 0 No comment
    MMAA 100.00 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
    MPHOSPH8 100.00 0 No comment
    MPI 100.00 0 No comment
    MPLKIP 100.00 0 No comment
    MPZ 100.00 0 No comment
    MRAP 100.00 0 No comment
    MRPS22 100.00 0 No comment
    MSH6 100.00 0 No comment
    MTFMT 99.11 0 No comment
    MTHFR 100.00 0 No comment
    MTHFS 99.64 0 No comment
    MTM1 100.00 0 No comment
    MTMR2 100.00 0 No comment
    MTR 100.00 0 No comment
    MTRR 100.00 0 No comment
    MVK 100.00 0 No comment
    MYCN 86.70 0 No comment
    MYH7B 100.00 0 No comment
    MYH9 100.00 0 No comment
    MYO1E 99.92 0 No comment
    MYO3A 100.00 0 No comment
    MYO5A 99.60 0 No comment
    MYO7A 100.00 0 No comment
    MYOC 100.00 0 No comment
    MYT1L 100.00 0 No comment
    NAA10 96.03 0 No comment
    NAA15 100.00 0 No comment
    NAGA 100.00 0 No comment
    NAGLU 87.38 0 No comment
    NALCN 100.00 0 No comment
    NBN 100.00 0 No comment
    NCKAP1 100.00 0 No comment
    NDE1 100.00 0 No comment
    NDP 100.00 0 No comment
    NDST1 100.00 0 No comment
    NDUFA1 100.00 0 No comment
    NDUFA11 98.06 0 No comment
    NDUFA12 100.00 0 No comment
    NDUFAF5 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
    NDUFS7 99.49 0 No comment
    NDUFS8 100.00 0 No comment
    NDUFV1 100.00 0 No comment
    NECTIN1 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
    NFATC1 99.84 0 No comment
    NFIA 100.00 0 No comment
    NFIX 97.15 0 No comment
    NGF 100.00 0 No comment
    NHEJ1 100.00 0 No comment
    NHP2 100.00 0 No comment
    NHS 93.25 0 No comment
    NIPBL 99.98 0 No comment
    NKX2-1 92.46 0 No comment
    NLGN1 100.00 0 No comment
    NLGN3 100.00 0 No comment
    NLGN4X 100.00 0 No comment
    NLGN4Y 55.32 0 No comment
    NOG 100.00 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
    NPHP3 99.87 0 No comment
    NR2F1 92.00 0 No comment
    NR3C2 100.00 0 No comment
    NR4A2 100.00 0 No comment
    NRAS 100.00 0 No comment
    NRCAM 100.00 0 No comment
    NRXN1 98.52 0 No comment
    NRXN2 88.11 0 No comment
    NSD1 100.00 0 No comment
    NSD2 100.00 0 No comment
    NSDHL 100.00 0 No comment
    NSUN2 99.70 0 No comment
    NTRK1 98.72 0 No comment
    NTRK2 100.00 0 No comment
    NUAK1 99.97 0 No comment
    NUS1 100.00 0 No comment
    NXF5 100.00 0 No comment
    OBSL1 98.31 0 No comment
    OCA2 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
    SLC25A15 100.00 0 No comment
    OTC 100.00 0 No comment
    OXTR 91.19 0 No comment
    PACS1 96.93 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
    PARP1 100.00 0 No comment
    PAX1 89.02 0 No comment
    PAX5 100.00 0 No comment
    PAX6 100.00 0 No comment
    PAX8 100.00 0 No comment
    PBRM1 100.00 0 No comment
    PODXL 100.00 0 No comment
    PCDH10 100.00 0 No comment
    PCDH19 99.91 0 No comment
    PCGF2 100.00 0 No comment
    PCNT 100.00 0 No comment
    PDE1C 100.00 0 No comment
    PDE4D 98.77 0 No comment
    PDE8B 96.32 0 No comment
    PDHA1 98.17 0 No comment
    PDHX 99.87 0 No comment
    PDSS1 86.24 0 No comment
    PDSS2 100.00 0 No comment
    PEPD 99.77 0 No comment
    PER2 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
    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
    PGA5 100.00 0 No comment
    PGAP1 100.00 0 No comment
    PGAP2 100.00 0 No comment
    PGAP3 99.90 0 No comment
    PGK1 100.00 0 No comment
    PHF2 99.71 0 No comment
    PHF21A 100.00 0 No comment
    PHF6 100.00 0 No comment
    PHF8 100.00 0 No comment
    PHGDH 100.00 0 No comment
    PHIP 99.09 0 No comment
    PHKA2 100.00 0 No comment
    PHKG2 100.00 0 No comment
    PIAS1 100.00 0 No comment
    PIGA 100.00 0 No comment
    PIGL 100.00 0 No comment
    PIGN 100.00 0 No comment
    PIGO 100.00 0 No comment
    PIGT 100.00 0 No comment
    PIGV 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
    PNP 100.00 0 No comment
    POC1A 99.95 0 No comment
    POGZ 100.00 0 No comment
    POLG 100.00 0 No comment
    POLR2M 100.00 0 No comment
    POLR3A 100.00 0 No comment
    POLR3B 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMGNT2 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.90 0 No comment
    PORCN 100.00 0 No comment
    POT1 100.00 0 No comment
    POU1F1 100.00 0 No comment
    POU3F4 100.00 0 No comment
    PPM1D 100.00 0 No comment
    HCRT 100.00 0 No comment
    PPP1R1B 100.00 0 No comment
    PPP2R1A 100.00 0 No comment
    PPP2R5D 100.00 0 No comment
    PPT1 100.00 0 No comment
    PQBP1 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRKAR1A 100.00 0 No comment
    PRKRA 90.07 0 No comment
    PRODH 86.43 0 No comment
    PRPS1 100.00 0 No comment
    PRRT2 100.00 0 No comment
    PRSS12 99.65 0 No comment
    PSAP 100.00 0 No comment
    PSEN1 100.00 0 No comment
    PTCH1 98.48 0 No comment
    PTCHD1 99.99 0 No comment
    PTDSS1 100.00 0 No comment
    PTEN 98.86 0 No comment
    PTHLH 100.00 0 No comment
    PTPN11 98.80 0 No comment
    PUF60 99.86 0 No comment
    PURA 85.32 0 No comment
    PUS1 99.08 0 No comment
    PYCR1 100.00 0 No comment
    PYGL 100.00 0 No comment
    RAB11A 100.00 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
    RAB40AL 100.00 0 No comment
    RABL6 99.93 0 No comment
    RAC1 93.90 0 No comment
    RAD21 100.00 0 No comment
    RAF1 100.00 0 No comment
    RAI1 96.06 0 No comment
    RALGDS 94.60 0 No comment
    RANBP17 98.90 0 No comment
    RAPSN 100.00 0 No comment
    RARS2 100.00 0 No comment
    RASGEF1B 100.00 0 No comment
    RBBP8 100.00 0 No comment
    RBFOX1 99.94 0 No comment
    RBL2 99.65 0 No comment
    RBM10 100.00 0 No comment
    RBM28 99.99 0 No comment
    RELN 99.96 0 No comment
    RERE 99.97 0 No comment
    RFT1 100.00 0 No comment
    RFX3 100.00 0 No comment
    RFX6 100.00 0 No comment
    RIC8A 100.00 0 No comment
    RIMS1 99.79 0 No comment
    RIT1 100.00 0 No comment
    RMND1 100.00 0 No comment
    RMRP 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
    RNF213 100.00 0 No comment
    ROGDI 91.80 0 No comment
    RP2 100.00 0 No comment
    RPGRIP1L 96.45 0 No comment
    RPL15 100.00 0 No comment
    RPS6KA2 98.15 0 No comment
    RPS6KA3 98.71 0 No comment
    RTEL1 100.00 0 No comment
    RTN2 99.98 0 No comment
    RUBCN 97.68 0 No comment
    RUNX1 99.96 0 No comment
    RUVBL1 100.00 0 No comment
    RYR1 98.38 0 No comment
    RYR2 100.00 0 No comment
    S100G 100.00 0 No comment
    SACS 99.97 0 No comment
    SALL1 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SARS2 100.00 0 No comment
    SATB2 100.00 0 No comment
    SBF1 98.81 0 No comment
    SC5D 100.00 0 No comment
    SCAPER 100.00 0 No comment
    SCN1A 100.00 0 No comment
    SCN2A 100.00 0 No comment
    SCN7A 100.00 0 No comment
    SCN8A 100.00 0 No comment
    SCN9A 100.00 0 No comment
    SCO2 100.00 0 No comment
    SDCCAG8 100.00 0 No comment
    SDHA 98.02 0 No comment
    SDK1 95.93 0 No comment
    SERAC1 100.00 0 No comment
    SERPINB12 100.00 0 No comment
    SETBP1 99.99 0 No comment
    SETD5 100.00 0 No comment
    NR5A1 86.69 0 No comment
    SFPQ 98.66 0 No comment
    SGCA 100.00 0 No comment
    SGSH 99.99 0 No comment
    SHANK1 96.45 0 No comment
    SHANK2 100.00 0 No comment
    SHANK3 83.99 0 No comment
    SHH 92.83 0 No comment
    SHOC2 100.00 0 No comment
    SHOX 90.47 0 No comment
    SHROOM4 100.00 0 No comment
    SIL1 100.00 0 No comment
    SIN3A 99.82 0 No comment
    SIX3 99.59 0 No comment
    HHAT 90.28 0 No comment
    SLC12A6 100.00 0 No comment
    SLC16A2 100.00 0 No comment
    SLC17A5 100.00 0 No comment
    SLC1A1 100.00 0 No comment
    SLC1A4 97.95 0 No comment
    SLC20A2 100.00 0 No comment
    SLC24A2 100.00 0 No comment
    SLC25A1 93.77 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A13 99.94 0 No comment
    SLC25A22 100.00 0 No comment
    SLC25A24 99.82 0 No comment
    SLC26A9 100.00 0 No comment
    SLC2A1 99.94 0 No comment
    SLC2A2 100.00 0 No comment
    SLC33A1 100.00 0 No comment
    SLC35A2 100.00 0 No comment
    SLC35C1 100.00 0 No comment
    SLC46A1 99.95 0 No comment
    SLC4A4 100.00 0 No comment
    SLC5A2 100.00 0 No comment
    SLC5A5 100.00 0 No comment
    SLC6A1 100.00 0 No comment
    SLC6A17 100.00 0 No comment
    SLC6A3 100.00 0 No comment
    SLC6A4 100.00 0 No comment
    SLC6A8 98.78 0 No comment
    SLC7A7 100.00 0 No comment
    SLC9A6 99.96 0 No comment
    SLC9A9 100.00 0 No comment
    SLCO1B1 100.00 0 No comment
    SLCO1B3 100.00 0 No comment
    SLX4 100.00 0 No comment
    SMAD2 100.00 0 No comment
    SMAD4 100.00 0 No comment
    SMARCA2 98.07 0 No comment
    SMARCA4 100.00 0 No comment
    SMARCB1 100.00 0 No comment
    SMARCC2 100.00 0 No comment
    SMARCE1 100.00 0 No comment
    SMC1A 100.00 0 No comment
    SMC3 100.00 0 No comment
    SMG6 97.90 0 No comment
    SMOC1 99.36 0 No comment
    SMPD1 100.00 0 No comment
    SNAP29 100.00 0 No comment
    SNIP1 100.00 0 No comment
    SNX14 100.00 0 No comment
    SNX19 100.00 0 No comment
    SOBP 87.96 0 No comment
    SOS1 100.00 0 No comment
    SOX10 96.79 0 No comment
    SOX11 99.01 0 No comment
    SOX2 98.05 0 No comment
    SOX3 85.62 0 No comment
    SOX5 100.00 0 No comment
    SPAST 100.00 0 No comment
    SPG11 100.00 0 No comment
    SPG7 96.56 0 No comment
    SPR 96.81 0 No comment
    SPRED1 100.00 0 No comment
    SPTAN1 100.00 0 No comment
    SPTLC1 99.99 0 No comment
    SRCAP 100.00 0 No comment
    SRD5A3 99.42 0 No comment
    SREBF2 100.00 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
    STAG1 100.00 0 No comment
    STAT5B 100.00 0 No comment
    STIL 100.00 0 No comment
    STRA6 100.00 0 No comment
    STS 100.00 0 No comment
    STT3A 100.00 0 No comment
    STT3B 99.25 0 No comment
    STX11 100.00 0 No comment
    STXBP1 100.00 0 No comment
    STXBP5 100.00 0 No comment
    SUCLA2 100.00 0 No comment
    SUCLG1 95.74 0 No comment
    SUOX 100.00 0 No comment
    SUPT16H 100.00 0 No comment
    SURF1 87.74 0 No comment
    SYN1 95.92 0 No comment
    SYNE1 100.00 0 No comment
    SYNGAP1 100.00 0 No comment
    SYP 99.27 0 No comment
    SYT14 93.04 0 No comment
    SYT3 100.00 0 No comment
    TAF1 100.00 0 No comment
    TAF2 100.00 0 No comment
    TAT 100.00 0 No comment
    TBC1D24 100.00 0 No comment
    TBC1D7 100.00 0 No comment
    TBCE 100.00 0 No comment
    TBR1 94.13 0 No comment
    TBX1 77.39 0 No comment
    TCF20 100.00 0 No comment
    TCF3 100.00 0 No comment
    TCF4 100.00 0 No comment
    TCF7L2 99.98 0 No comment
    TECR 100.00 0 No comment
    TENM1 100.00 0 No comment
    TFAP2A 100.00 0 No comment
    TGFBR1 92.91 0 No comment
    TGFBR2 100.00 0 No comment
    TGIF1 100.00 0 No comment
    TGM1 100.00 0 No comment
    TH 99.95 0 No comment
    THOC2 99.99 0 No comment
    THOC6 100.00 0 No comment
    THRA 100.00 0 No comment
    THRB 100.00 0 No comment
    TIMM8A 100.00 0 No comment
    TINF2 100.00 0 No comment
    TMCO1 100.00 0 No comment
    TMEM107 100.00 0 No comment
    TMEM135 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
    TMLHE 100.00 0 No comment
    TNK2 100.00 0 No comment
    TNRC6B 100.00 0 No comment
    TOPORS 100.00 0 No comment
    TOR1A 99.99 0 No comment
    TDO2 100.00 0 No comment
    TPK1 100.00 0 No comment
    THPO 99.84 0 No comment
    ACD 100.00 0 No comment
    TRAPPC10 99.93 0 No comment
    TRAPPC11 100.00 0 No comment
    TRAPPC9 99.98 0 No comment
    TREX1 100.00 0 No comment
    TRHR 100.00 0 No comment
    TRIM10 100.00 0 No comment
    TRIM3 100.00 0 No comment
    TRIM32 100.00 0 No comment
    TRIO 97.46 0 No comment
    TRIP12 100.00 0 No comment
    TRMT1 100.00 0 No comment
    TRMT10A 100.00 0 No comment
    TRPM6 100.00 0 No comment
    TRPV4 100.00 0 No comment
    TSC1 100.00 0 No comment
    TSC2 100.00 0 No comment
    TSEN54 94.23 0 No comment
    TSHR 100.00 0 No comment
    TSPAN7 99.99 0 No comment
    TSPOAP1 99.98 0 No comment
    SKIC3 100.00 0 No comment
    TTC8 100.00 0 No comment
    TTI1 100.00 0 No comment
    TTI2 100.00 0 No comment
    TTR 100.00 0 No comment
    TUBA1A 100.00 0 No comment
    TUBA8 100.00 0 No comment
    TUBB2B 100.00 0 No comment
    TUBB3 98.24 0 No comment
    TUBGCP6 100.00 0 No comment
    TUSC3 100.00 0 No comment
    TWIST1 70.93 0 No comment
    UBE2A 99.62 0 No comment
    UBE3A 100.00 0 No comment
    UBE3B 100.00 0 No comment
    UBR1 100.00 0 No comment
    UBTF 100.00 0 No comment
    UPB1 100.00 0 No comment
    UPF3B 100.00 0 No comment
    UROC1 100.00 0 No comment
    USP9X 100.00 0 No comment
    UTP6 100.00 0 No comment
    VCP 98.45 0 No comment
    VLDLR 96.53 0 No comment
    VPS13B 99.25 0 No comment
    VPS39 100.00 0 No comment
    VPS4A 100.00 0 No comment
    VRK1 100.00 0 No comment
    WAC 100.00 0 No comment
    WASHC4 99.72 0 No comment
    WDFY3 100.00 0 No comment
    WDR11 100.00 0 No comment
    WDR13 100.00 0 No comment
    WDR19 100.00 0 No comment
    WDR26 100.00 0 No comment
    WDR45 100.00 0 No comment
    WDR45B 100.00 0 No comment
    WDR62 100.00 0 No comment
    WDR81 99.97 0 No comment
    WNT2 100.00 0 No comment
    WRN 100.00 0 No comment
    WWOX 100.00 0 No comment
    XPA 99.35 0 No comment
    XPNPEP3 93.18 0 No comment
    XPO5 100.00 0 No comment
    XYLT1 88.83 0 No comment
    YAP1 96.50 0 No comment
    YEATS2 100.00 0 No comment
    YWHAE 98.69 0 No comment
    YY1 99.92 0 No comment
    ZBTB16 100.00 0 No comment
    ZBTB18 100.00 0 No comment
    ZBTB20 100.00 0 No comment
    ZBTB24 100.00 0 No comment
    ZC3H14 100.00 0 No comment
    ZC3H4 99.94 0 No comment
    ZCCHC12 100.00 0 No comment
    ZDHHC15 100.00 0 No comment
    ZDHHC9 100.00 0 No comment
    ZEB2 100.00 0 No comment
    ZFHX4 100.00 0 No comment
    ZFP57 100.00 0 No comment
    ZFYVE26 100.00 0 No comment
    ZIC2 80.54 0 No comment
    ZMYM3 100.00 0 No comment
    ZMYND11 100.00 0 No comment
    ZNF292 100.00 0 No comment
    ZNF407 100.00 0 No comment
    ZNF41 100.00 0 No comment
    ZNF526 100.00 0 No comment
    ZNF559 100.00 0 No comment
    ZNF592 100.00 0 No comment
    ZNF594 100.00 0 No comment
    ZNF599 100.00 0 No comment
    ZNF674 100.00 0 No comment
    ZNF697 95.04 0 No comment
    ZNF711 100.00 0 No comment
    ZNF774 100.00 0 No comment
    ZNF8 100.00 0 No comment
    ZNF81 100.00 0 No comment
    ZNF827 100.00 0 No comment
  • Onco-endocine pathologies (50 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AIP 100.00 1 Part of Custom Onco-endocrino panel
    ALK 100.00 1 Part of Custom Onco-endocrino panel
    ARMC5 100.00 1 Part of Custom Onco-endocrino panel
    AXIN2 100.00 1 Part of Custom Onco-endocrino panel
    BAP1 100.00 1 Part of Custom Onco-endocrino panel
    CDK4 100.00 1 Part of Custom Onco-endocrino panel
    CDKN1B 100.00 1 Part of Custom Onco-endocrino panel
    CDKN2A 100.00 1 Part of Custom Onco-endocrino panel
    CYLD 100.00 1 Part of Custom Onco-endocrino panel
    DNMT3A 100.00 1 Part of Custom Onco-endocrino panel
    EGLN1 100.00 1 Part of Custom Onco-endocrino panel
    EGLN2 100.00 1 Part of Custom Onco-endocrino panel
    EGLN3 100.00 1 Part of Custom Onco-endocrino panel
    EPAS1 100.00 1 Part of Custom Onco-endocrino panel
    FH 100.00 1 Part of Custom Onco-endocrino panel
    FLCN 100.00 1 Part of Custom Onco-endocrino panel
    GOT2 100.00 1 Part of Custom Onco-endocrino panel
    HIF1A 100.00 1 Part of Custom Onco-endocrino panel
    HOXB13 100.00 1 Part of Custom Onco-endocrino panel
    IDH3B 100.00 1 Part of Custom Onco-endocrino panel
    KIF1B 100.00 1 Part of Custom Onco-endocrino panel
    KIT 100.00 1 Part of Custom Onco-endocrino panel
    KMT2D 100.00 1 Part of Custom Onco-endocrino panel
    MAX 100.00 1 Part of Custom Onco-endocrino panel
    MC1R 100.00 1 Part of Custom Onco-endocrino panel
    MDH1 100.00 1 Part of Custom Onco-endocrino panel
    MDH2 100.00 1 Part of Custom Onco-endocrino panel
    MEN1 100.00 1 Part of Custom Onco-endocrino panel
    MERTK 100.00 1 Part of Custom Onco-endocrino panel
    MET 100.00 1 Part of Custom Onco-endocrino panel
    MITF 100.00 1 Part of Custom Onco-endocrino panel
    NF1 100.00 1 Part of Custom Onco-endocrino panel
    PDGFRA 100.00 1 Part of Custom Onco-endocrino panel
    PHOX2B 100.00 1 Part of Custom Onco-endocrino panel
    POT1 100.00 1 Part of Custom Onco-endocrino panel
    PRKAR1A 100.00 1 Part of Custom Onco-endocrino panel
    PTCH1 100.00 1 Part of Custom Onco-endocrino panel
    PTCH2 100.00 1 Part of Custom Onco-endocrino panel
    RB1 100.00 1 Part of Custom Onco-endocrino panel
    RET 100.00 1 Part of Custom Onco-endocrino panel
    SDHA 100.00 1 Part of Custom Onco-endocrino panel
    SDHAF1 100.00 1 Part of Custom Onco-endocrino panel
    SDHAF2 100.00 1 Part of Custom Onco-endocrino panel
    SDHAF3 100.00 1 Part of Custom Onco-endocrino panel
    SDHB 100.00 1 Part of Custom Onco-endocrino panel
    SDHC 100.00 1 Part of Custom Onco-endocrino panel
    SDHD 100.00 1 Part of Custom Onco-endocrino panel
    SUFU 100.00 1 Part of Custom Onco-endocrino panel
    TMEM127 100.00 1 Part of Custom Onco-endocrino panel
    VHL 100.00 1 Part of Custom Onco-endocrino panel
  • Panel Nephro-ULG-V1
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 97.24 0 ,
    ACTG2 100.00 0 ,
    ACTN4 100.00 0 ,
    ADAMTS13 96.63 0 ,
    ADAMTS9 100.00 0 ,
    ADCY10 100.00 0 ,
    AGT 100.00 0 ,
    AGTR1 100.00 0 ,
    AGXT 100.00 0 ,
    ALDOB 100.00 0 ,
    ALG5 100.00 0 ,
    ALG8 100.00 0 ,
    ALG9 99.28 0 ,
    ALMS1 100.00 0 ,
    ALPL 100.00 0 ,
    AMN 86.23 0 ,
    ANKS6 91.46 0 ,
    ANLN 100.00 0 ,
    ANOS1 94.70 0 ,
    AP2S1 100.00 0 ,
    APOA1 100.00 0 ,
    APOL1 100.00 0 ,
    APRT 100.00 0 ,
    AQP2 100.00 0 ,
    ARHGAP24 99.80 0 ,
    ARHGDIA 100.00 0 ,
    ARL6 100.00 0 ,
    ATP6V0A4 100.00 0 ,
    ATP6V1B1 100.00 0 ,
    ATP7B 100.00 0 ,
    ATXN10 99.92 0 ,
    AVIL 100.00 0 ,
    AVPR2 100.00 0 ,
    B2M 100.00 0 ,
    B9D1 100.00 0 ,
    B9D2 100.00 0 ,
    BBIP1 100.00 0 ,
    BBS1 100.00 0 ,
    BBS10 100.00 0 ,
    BBS12 100.00 0 ,
    BBS2 100.00 0 ,
    BBS4 100.00 0 ,
    BBS5 100.00 0 ,
    BBS7 100.00 0 ,
    BBS9 100.00 0 ,
    BICC1 99.81 0 ,
    BMP4 100.00 0 ,
    BMP7 100.00 0 ,
    BNC2 100.00 0 ,
    BSND 100.00 0 ,
    C3 100.00 0 ,
    CA2 100.00 0 ,
    CASR 100.00 0 ,
    CC2D2A 100.00 0 ,
    CD151 100.00 0 ,
    CD2AP 100.00 0 ,
    CD46 100.00 0 ,
    CDC5L 100.00 0 ,
    CDC73 100.00 0 ,
    CENPF 100.00 0 ,
    CEP164 100.00 0 ,
    CEP290 99.95 0 ,
    CEP41 100.00 0 ,
    CEP55 100.00 0 ,
    CEP83 100.00 0 ,
    CFB 100.00 0 ,
    CFH 100.00 0 ,
    CFHR1 95.06 0 ,
    CFHR3 99.44 0 ,
    CFHR5 100.00 0 ,
    CFI 100.00 0 ,
    CHD1L 99.95 0 ,
    CHD7 100.00 0 ,
    CHRM3 100.00 0 ,
    CHRNA3 99.35 0 ,
    CLCN5 100.00 0 ,
    CLCNKA 100.00 0 ,
    CLCNKB 100.00 0 ,
    CLDN10 100.00 0 ,
    CLDN16 100.00 0 ,
    CLDN19 100.00 0 ,
    CNNM2 99.42 0 ,
    COL4A1 99.52 0 ,
    COL4A3 99.47 0 ,
    COL4A4 100.00 0 ,
    COL4A5 99.90 0 ,
    COL4A6 99.82 0 ,
    COQ2 95.50 0 ,
    COQ6 100.00 0 ,
    COQ8A 100.00 0 ,
    COQ8B 100.00 0 ,
    CRB2 94.59 0 ,
    CSPP1 100.00 0 ,
    CTNS 100.00 0 ,
    CTU2 98.44 0 ,
    CUBN 100.00 0 ,
    CUL3 100.00 0 ,
    CYP24A1 100.00 0 ,
    DAAM2 100.00 0 ,
    DCDC2 100.00 0 ,
    DGKE 100.00 0 ,
    DHCR7 99.99 0 ,
    DIS3L2 100.00 0 ,
    DMP1 100.00 0 ,
    DNAJB11 100.00 0 ,
    DSTYK 100.00 0 ,
    DYNC2H1 99.97 0 ,
    DZIP1L 100.00 0 ,
    EGF 100.00 0 ,
    EGFR 99.63 0 ,
    EHHADH 100.00 0 ,
    EMP2 100.00 0 ,
    EYA1 100.00 0 ,
    FAH 100.00 0 ,
    FAM20A 99.78 0 ,
    CCNQ 82.12 0 ,
    FAN1 100.00 0 ,
    FAT1 100.00 0 ,
    FGA 100.00 0 ,
    FGF20 99.13 0 ,
    FGF23 100.00 0 ,
    FH 100.00 0 ,
    FLCN 100.00 0 ,
    FN1 99.98 0 ,
    FRAS1 100.00 0 ,
    FREM1 100.00 0 ,
    FREM2 100.00 0 ,
    FXYD2 100.00 0 ,
    G6PC1 100.00 0 ,
    GALT 100.00 0 ,
    GANAB 100.00 0 ,
    GATA3 100.00 0 ,
    GATM 100.00 0 ,
    GLA 100.00 0 ,
    GLI3 100.00 0 ,
    GLIS2 100.00 0 ,
    GNA11 99.87 0 ,
    GPC3 99.84 0 ,
    GREB1L 100.00 0 ,
    GRHPR 100.00 0 ,
    GRIP1 100.00 0 ,
    GSN 100.00 0 ,
    HAAO 100.00 0 ,
    HNF1B 100.00 0 ,
    HNF4A 100.00 0 ,
    HOGA1 100.00 0 ,
    HOXA13 71.26 0 ,
    HPRT1 97.10 0 ,
    HPSE2 100.00 0 ,
    HSD11B2 78.40 0 ,
    IFT122 100.00 0 ,
    IFT140 99.96 0 ,
    IFT172 100.00 0 ,
    IFT27 100.00 0 ,
    IFT80 100.00 0 ,
    INF2 99.98 0 ,
    INVS 100.00 0 ,
    IQCB1 100.00 0 ,
    ITGA3 99.70 0 ,
    ITGA8 99.76 0 ,
    JAG1 99.83 0 ,
    KANK1 100.00 0 ,
    KANK2 100.00 0 ,
    KANK4 100.00 0 ,
    KCNA1 100.00 0 ,
    KCNJ1 100.00 0 ,
    KCNJ10 100.00 0 ,
    KCNJ16 100.00 0 ,
    KDM6A 99.90 0 ,
    KL 95.50 0 ,
    KLHL3 100.00 0 ,
    KMT2D 100.00 0 ,
    KYNU 99.98 0 ,
    LAMA5 98.59 0 ,
    LAMB2 100.00 0 ,
    LIFR 100.00 0 ,
    LMX1B 100.00 0 ,
    LRIG2 99.95 0 ,
    LRP2 100.00 0 ,
    LRP4 99.14 0 ,
    LRP5 97.83 0 ,
    LRP6 100.00 0 ,
    LYZ 100.00 0 ,
    LZTFL1 100.00 0 ,
    MAGED2 99.94 0 ,
    MAGI2 93.63 0 ,
    MAPKBP1 100.00 0 ,
    MET 100.00 0 ,
    MKKS 100.00 0 ,
    MKS1 100.00 0 ,
    MMACHC 100.00 0 ,
    MUC1 100.00 0 ,
    MYH9 100.00 0 ,
    MYO1E 100.00 0 ,
    MYOCD 100.00 0 ,
    NADSYN1 100.00 0 ,
    NEK8 100.00 0 ,
    NIPBL 100.00 0 ,
    NOTCH2 100.00 0 ,
    NPHP1 100.00 0 ,
    NPHP3 99.73 0 ,
    NPHP4 100.00 0 ,
    NPHS1 100.00 0 ,
    NPHS2 100.00 0 ,
    NR3C2 100.00 0 ,
    NRIP1 100.00 0 ,
    NUP107 100.00 0 ,
    NUP133 100.00 0 ,
    NUP160 100.00 0 ,
    NUP205 100.00 0 ,
    NUP85 100.00 0 ,
    NUP93 100.00 0 ,
    NXF5 0.00 0 ,
    OCRL 99.96 0 ,
    OFD1 100.00 0 ,
    PAX2 100.00 0 ,
    PBX1 100.00 0 ,
    PCBD1 92.70 0 ,
    PDE6D 100.00 0 ,
    PDSS2 100.00 0 ,
    PHEX 98.98 0 ,
    PKD1 96.86 0 ,
    PKD2 92.32 0 ,
    PKHD1 100.00 0 ,
    PLCE1 100.00 0 ,
    PLG 100.00 0 ,
    PLVAP 100.00 0 ,
    PMM2 100.00 0 ,
    PODXL 90.59 0 ,
    PRKCSH 100.00 0 ,
    PTPRO 100.00 0 ,
    REN 100.00 0 ,
    RET 99.35 0 ,
    ROBO1 100.00 0 ,
    ROBO2 100.00 0 ,
    ROR2 98.01 0 ,
    RPGRIP1L 99.18 0 ,
    RRAGD 99.90 0 ,
    RRM2B 100.00 0 ,
    SALL1 100.00 0 ,
    SARS2 100.00 0 ,
    SCARB2 100.00 0 ,
    SCNN1A 100.00 0 ,
    SCNN1B 100.00 0 ,
    SCNN1G 100.00 0 ,
    SDCCAG8 100.00 0 ,
    SDHB 100.00 0 ,
    SDHD 100.00 0 ,
    SEC61A1 100.00 0 ,
    SEC63 99.95 0 ,
    SGPL1 99.92 0 ,
    SIX1 100.00 0 ,
    SIX2 100.00 0 ,
    SIX5 93.51 0 ,
    SLC12A1 100.00 0 ,
    SLC12A3 100.00 0 ,
    SLC1A1 100.00 0 ,
    SLC22A12 100.00 0 ,
    SLC26A1 100.00 0 ,
    SLC26A3 100.00 0 ,
    SLC2A2 100.00 0 ,
    SLC2A9 100.00 0 ,
    SLC34A1 100.00 0 ,
    SLC34A3 100.00 0 ,
    SLC3A1 100.00 0 ,
    SLC41A1 100.00 0 ,
    SLC4A1 100.00 0 ,
    SLC4A4 100.00 0 ,
    SLC5A2 100.00 0 ,
    SLC6A19 100.00 0 ,
    SLC7A7 100.00 0 ,
    SLC7A9 100.00 0 ,
    NHERF1 100.00 0 ,
    SLIT2 99.95 0 ,
    SMARCAL1 100.00 0 ,
    SOX17 99.26 0 ,
    STRA6 100.00 0 ,
    STX16 100.00 0 ,
    TBC1D1 100.00 0 ,
    TBC1D8B 100.00 0 ,
    TBX18 99.84 0 ,
    TCTN2 100.00 0 ,
    TCTN3 100.00 0 ,
    TFAP2A 100.00 0 ,
    THBD 100.00 0 ,
    TMEM138 100.00 0 ,
    TMEM216 100.00 0 ,
    TMEM231 100.00 0 ,
    TMEM237 100.00 0 ,
    TMEM260 97.92 0 ,
    TMEM67 100.00 0 ,
    TRAP1 95.57 0 ,
    TRIM32 100.00 0 ,
    TRIM8 100.00 0 ,
    TRPC6 100.00 0 ,
    TRPM6 100.00 0 ,
    TSC1 100.00 0 ,
    TSC2 100.00 0 ,
    TTC21B 50.00 0 ,
    TTC8 100.00 0 ,
    TTR 100.00 0 ,
    TULP3 100.00 0 ,
    UMOD 100.00 0 ,
    UPK3A 100.00 0 ,
    VHL 100.00 0 ,
    VIPAS39 100.00 0 ,
    VPS33B 100.00 0 ,
    WBP11 100.00 0 ,
    WDPCP 100.00 0 ,
    WDR19 100.00 0 ,
    WDR35 100.00 0 ,
    WDR73 100.00 0 ,
    WNK1 100.00 0 ,
    WNK4 100.00 0 ,
    WNT4 93.15 0 ,
    WNT5A 88.79 0 ,
    WT1 95.16 0 ,
    XDH 100.00 0 ,
    XPNPEP3 100.00 0 ,
    XPO5 99.80 0 ,
    ZIC3 100.00 0 ,
    ZMYM2 99.97 0 ,
    ZNF423 100.00 0 ,
  • Paraganglioma and pheochromocytoma (29 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    DNMT3A 100.00 1 Part of custom Onco-endocrino panel
    EGLN1 100.00 1 Part of custom Onco-endocrino panel
    EGLN2 100.00 1 Part of custom Onco-endocrino panel
    EGLN3 100.00 1 Part of custom Onco-endocrino panel
    EPAS1 100.00 1 Part of custom Onco-endocrino panel
    FH 100.00 1 Part of custom Onco-endocrino panel
    GOT2 100.00 1 Part of custom Onco-endocrino panel
    HIF1A 100.00 1 Part of custom Onco-endocrino panel
    IDH3B 100.00 1 Part of custom Onco-endocrino panel
    KIF1B 100.00 1 Part of custom Onco-endocrino panel
    KMT2D 100.00 1 Part of custom Onco-endocrino panel
    MAX 100.00 1 Part of custom Onco-endocrino panel
    MDH1 100.00 1 Part of custom Onco-endocrino panel
    MDH2 100.00 1 Part of custom Onco-endocrino panel
    MEN1 100.00 1 Part of custom Onco-endocrino panel
    MERTK 100.00 1 Part of custom Onco-endocrino panel
    MET 100.00 1 Part of custom Onco-endocrino panel
    NF1 100.00 1 Part of custom Onco-endocrino panel
    PRKAR1A 100.00 1 Part of custom Onco-endocrino panel
    RET 100.00 1 Part of custom Onco-endocrino panel
    SDHA 100.00 1 Part of custom Onco-endocrino panel
    SDHAF1 100.00 1 Part of custom Onco-endocrino panel
    SDHAF2 100.00 1 Part of custom Onco-endocrino panel
    SDHAF3 100.00 1 Part of custom Onco-endocrino panel
    SDHB 100.00 1 Part of custom Onco-endocrino panel
    SDHC 100.00 1 Part of custom Onco-endocrino panel
    SDHD 100.00 1 Part of custom Onco-endocrino panel
    TMEM127 100.00 1 Part of custom Onco-endocrino panel
    VHL 100.00 1 Part of custom Onco-endocrino panel
  • 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
  • Short Stature (46 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 90.00 1 NM_001369268.1
    ANKRD11 100.00 1 NM_013275.6
    BRAF 100.00 1 NM_001354609.2
    BTK 100.00 1 NM_000061.3
    CBL 100.00 1 NM_005188.4
    CCDC8 100.00 1 NM_032040.5
    CREBBP 100.00 1 NM_004380.3
    CUL7 100.00 1 NM_014780.5
    DHCR7 100.00 1 NM_001360.3
    DVL1 100.00 1 NM_001330311.2
    EP300 100.00 1 NM_001429.4
    FGD1 100.00 1 NM_004463.3
    FGFR3 100.00 1 NM_001163213.1
    GH1 100.00 1 NM_000515.5
    GHR 100.00 1 NM_000163.5
    GHRHR 100.00 1 NM_000823.4
    GHSR 100.00 1 NM_198407.2
    HRAS 100.00 1 NM_005343.4
    IGF1 100.00 1 NM_000618.5
    IGF1R 100.00 1 NM_000875.5
    IGF2 100.00 1 NM_000612.6
    IGFALS 100.00 1 NM_004970.3
    KDM6A 100.00 1 NM_001291415.2
    KMT2D 100.00 1 NM_003482.3
    KRAS 100.00 1 NM_033360.4
    NPPC 100.00 1 NM_024409.4
    NPR2 100.00 1 NM_003995.3
    NPR3 100.00 1 NM_001204375.2
    NRAS 100.00 1 NM_002524.5
    OBSL1 100.00 1 NM_015311.3
    PIK3R1 100.00 1 NM_181523.3
    POU1F1 100.00 1 NM_000306.4
    PTPN11 100.00 1 NM_002834.5
    RAF1 100.00 1 NM_001354689.3
    RASA2 100.00 1 NM_006506.5
    RIT1 100.00 1 NM_006912.6
    ROR2 100.00 1 NM_004560.4
    RPS6KA3 100.00 1 NM_004586.3
    SHOC2 100.00 1 NM_007373.4
    SHOX 100.00 1 NM_000451.3
    SOS1 100.00 1 NM_005633.3
    SOX3 100.00 1 NM_005634.2
    SRCAP 100.00 1 NM_006662.3
    STAT5B 100.00 1 NM_012448.4
    TRIM37 100.00 1 NM_015294.6
    WNT5A 100.00 1 NM_003392.4
  • Skeletal dysplasia - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 99.92 1
    ABL1 100.00 1
    ACAN 91.51 1
    ACP5 100.00 1
    ACVR1 99.94 1
    ADAMTS10 99.99 1
    ADAMTS17 99.99 1
    ADAMTSL2 99.99 1
    AFF4 99.94 1
    AGA 99.92 1
    AGPS 98.83 1
    AHDC1 100.00 1
    AKT1 100.00 1
    ALG12 100.00 1
    ALG3 99.96 1
    ALG9 99.73 1
    ALPL 99.88 1
    ALX1 97.99 1
    ALX3 99.74 1
    ALX4 100.00 1
    AMER1 100.00 1
    ANAPC1 75.83 1
    ANKH 99.95 1
    ANKRD11 99.85 1
    ANO5 99.85 1
    ANTXR2 99.67 1
    ARHGAP31 100.00 1
    ARID1A 99.83 1
    ARID1B 99.69 1
    SLURP1 99.99 1
    ARSL 99.93 1
    ASXL1 100.00 1
    ASXL2 99.82 1
    ATP6V0A2 99.92 1
    B3GALT6 100.00 1
    B3GAT3 87.74 1
    B3GLCT 99.90 1
    B4GALT7 99.99 1
    B9D1 99.80 1
    BBS1 100.00 1
    BBS10 99.98 1
    BBS12 100.00 1
    BBS2 99.90 1
    BBS4 99.88 1
    BBS5 99.00 1
    BBS7 99.42 1
    BBS9 99.75 1
    BHLHA9 100.00 1
    BMP1 99.94 1
    BMP2 99.79 1
    BMPER 99.94 1
    BMPR1B 99.61 1
    BPNT2 100.00 1
    C2CD3 99.88 1
    CA2 99.62 1
    CANT1 100.00 1
    CASR 99.99 1
    CC2D2A 99.95 1
    CCDC134 100.00 1
    CCDC8 100.00 1
    CCN6 99.89 1
    CCNQ 99.98 1
    CD96 99.91 1
    CDC45 99.77 1
    CDC6 99.85 1
    CDH3 99.98 1
    CDKN1C 100.00 1
    CDT1 100.00 1
    CEP120 99.90 1
    CEP290 98.10 1
    CFAP410 100.00 1
    CHD7 99.99 1
    CHST14 100.00 1
    CHST3 100.00 1
    CHSY1 99.99 1
    CILK1 99.69 1
    CKAP2L 99.54 1
    CLCN5 99.67 1
    CLCN7 99.99 1
    COG1 100.00 1
    COG4 99.96 1
    COL10A1 100.00 1
    COL11A1 90.72 1
    COL11A2 99.99 1
    COL1A1 99.90 1
    COL1A2 99.34 1
    COL2A1 99.87 1
    COL9A1 99.91 1
    COL9A2 98.76 1
    COL9A3 99.99 1
    COLEC11 100.00 1
    COMP 100.00 1
    CPLANE1 99.81 1
    CREB3L1 99.88 1
    CREBBP 99.97 1
    CRTAP 99.98 1
    CSF1R 99.92 1
    CSGALNACT1 100.00 1
    CSPP1 98.31 1
    CTSA 99.98 1
    CTSC 99.97 1
    CTSK 99.31 1
    CUL7 100.00 1
    CYP27B1 99.98 1
    CYP2R1 99.96 1
    DCC 99.96 1
    DDR2 99.58 1
    RIGI 99.84 1
    DDX59 99.67 1
    DHCR24 99.93 1
    DHCR7 99.97 1
    DHODH 99.99 1
    DIP2C 100.00 1
    DLL3 100.00 1
    DLL4 100.00 1
    DLX3 99.98 1
    DLX5 99.98 1
    DLX6 99.82 1
    DMP1 99.99 1
    DNMT3A 100.00 1
    DOCK6 100.00 1
    DPAGT1 100.00 1
    DPM1 90.68 1
    DSPP 99.99 1
    DVL1 100.00 1
    DVL3 99.99 1
    DYM 99.96 1
    DYNC2H1 99.66 1
    DYNC2I1 99.99 1
    DYNC2I2 99.98 1
    DYNC2LI1 99.94 1
    DYNLT2B 100.00 1
    GLB1 100.00 1
    EDNRA 99.97 1
    EFNA4 99.92 1
    EFNB1 99.95 1
    EFTUD2 99.93 1
    EIF2AK3 97.43 1
    EIF4A3 99.99 1
    ENPP1 99.88 1
    EOGT 99.09 1
    EP300 99.97 1
    ERCC4 99.92 1
    ERF 99.98 1
    ESCO2 99.92 1
    EVC 99.95 1
    EVC2 99.97 1
    EXT1 99.94 1
    EXT2 99.98 1
    EXTL3 99.99 1
    EZH2 99.89 1
    FAM111A 100.00 1
    FAM20C 100.00 1
    FBLN1 98.69 1
    FBN1 99.85 1
    FBN2 99.90 1
    FBXW4 99.31 1
    FERMT3 99.99 1
    FGF10 99.95 1
    FGF16 99.60 1
    FGF23 100.00 1
    FGF3 99.97 1
    FGF4 100.00 1
    FGF8 100.00 1
    FGF9 100.00 1
    FGFR1 100.00 1
    FGFR2 99.99 1
    FGFR3 100.00 1
    FIG4 99.83 1
    FKBP10 99.98 1
    FLNA 99.99 1
    FLNB 99.98 1
    FMN1 99.98 1
    FREM1 99.98 1
    FUCA1 98.72 1
    FZD2 99.98 1
    GALNS 99.98 1
    GALNT3 99.52 1
    GDF3 100.00 1
    GDF5 100.00 1
    GDF6 100.00 1
    GFER 100.00 1
    GJA1 100.00 1
    GLI3 100.00 1
    GNAS 100.00 1
    GNPAT 99.78 1
    GNPNAT1 99.99 1
    GNPTAB 99.76 1
    GNPTG 100.00 1
    GNS 99.59 1
    GORAB 99.59 1
    GPC6 99.98 1
    GPX4 100.00 1
    GREM1 100.00 1
    GUSB 95.07 1
    GZF1 100.00 1
    HDAC4 99.98 1
    HDAC8 99.74 1
    HES7 100.00 1
    HGSNAT 99.93 1
    HNRNPK 99.93 1
    HOXA11 99.99 1
    HOXA13 99.94 1
    HOXD13 99.98 1
    HPGD 99.98 1
    HS2ST1 95.79 1
    HSPG2 99.87 1
    IDH1 99.91 1
    IDH2 100.00 1
    IDS 99.82 1
    IDUA 99.99 1
    IFIH1 99.84 1
    IFITM5 100.00 1
    IFT122 99.98 1
    IFT140 100.00 1
    IFT172 99.98 1
    IFT43 99.97 1
    IFT52 99.82 1
    IFT80 99.69 1
    IFT81 94.64 1
    IHH 100.00 1
    IKBKG 57.34 1
    IL11RA 99.98 1
    IL1RN 99.64 1
    INPPL1 99.97 1
    KAT6B 99.79 1
    KDELR2 99.98 1
    KIAA0753 100.00 1
    KIAA1217 99.99 1
    KIF22 99.89 1
    KIF7 100.00 1
    KMT2D 99.98 1
    LBR 99.66 1
    LEMD3 99.07 1
    LFNG 100.00 1
    LIFR 99.69 1
    LMBR1 99.88 1
    LMNA 99.96 1
    LMX1B 100.00 1
    LONP1 99.99 1
    LPIN2 100.00 1
    CORIN 99.89 1
    LRP5 99.95 1
    LTBP2 99.97 1
    MAFB 100.00 1
    MAN2B1 99.99 1
    MAN2C1 99.96 1
    MAP3K7 99.33 1
    MASP1 99.99 1
    MATN3 99.97 1
    MBTPS2 99.81 1
    MEGF8 99.90 1
    MEOX1 99.99 1
    MESP2 99.99 1
    MGP 99.95 1
    MIA2 99.72 1
    MIA3 99.84 1
    MKKS 100.00 1
    MKS1 99.92 1
    MMP13 99.96 1
    MMP2 99.96 1
    MMP9 100.00 1
    MNX1 99.83 1
    MPDU1 99.97 1
    MSX2 100.00 1
    MTX2 99.20 1
    MYCN 100.00 1
    MYL11 99.85 1
    NAGLU 100.00 1
    NANS 100.00 1
    NBAS 99.86 1
    NEK1 99.83 1
    NEU1 99.98 1
    NF1 99.88 1
    NFIX 99.99 1
    NIPBL 99.34 1
    NKX3-2 99.99 1
    NLRP3 100.00 1
    NOG 100.00 1
    NOTCH1 99.98 1
    NOTCH2 99.03 1
    NPPC 100.00 1
    NPRL2 99.99 1
    NSD1 99.98 1
    NSDHL 99.87 1
    NXN 99.92 1
    OBSL1 100.00 1
    OFD1 99.68 1
    SLC25A15 99.70 1
    ORC4 99.70 1
    ORC6 99.82 1
    OSTM1 99.56 1
    P3H1 99.89 1
    P4HB 99.99 1
    PAM16 100.00 1
    PAN2 99.95 1
    PAPSS2 99.91 1
    PAX3 100.00 1
    PCNT 99.97 1
    PCYT1A 100.00 1
    PDE3A 99.97 1
    PDE4D 99.89 1
    PEX5 99.89 1
    PEX7 99.72 1
    PGM3 99.94 1
    PHEX 99.83 1
    PHGDH 99.79 1
    PIGT 99.95 1
    PIGV 100.00 1
    PIK3C2A 99.92 1
    PIK3CA 99.74 1
    PISD 100.00 1
    PITX1 100.00 1
    PLEKHM1 99.77 1
    PLOD2 99.66 1
    PLS3 99.75 1
    POC1A 99.98 1
    POLR1A 99.93 1
    POLR1C 100.00 1
    POLR1D 100.00 1
    BVES 99.94 1
    PORCN 99.98 1
    PPIB 100.00 1
    PRKAR1A 100.00 1
    PRKG2 99.75 1
    PRMT7 99.95 1
    PSAT1 99.98 1
    PSPH 99.09 1
    PTDSS1 99.95 1
    PTH1R 99.93 1
    PTHLH 99.89 1
    PTPN11 99.98 1
    PUF60 100.00 1
    PYCR1 99.99 1
    RAB23 99.97 1
    RAB33B 100.00 1
    RAD21 99.91 1
    RASGRP2 100.00 1
    RBM8A 99.37 1
    RBPJ 99.96 1
    RECQL4 100.00 1
    RFT1 99.79 1
    RIN1 100.00 1
    RNU4ATAC 99.95 1
    ROR2 99.99 1
    RPGRIP1L 96.35 1
    RPL13 99.96 1
    RUNX2 100.00 1
    SALL1 100.00 1
    SALL4 100.00 1
    SBDS 99.93 1
    SCARF2 99.94 1
    SCUBE3 99.96 1
    SEC24D 99.94 1
    SERPINF1 100.00 1
    SERPINH1 100.00 1
    SETD2 99.91 1
    SF3B4 99.65 1
    SFRP4 99.99 1
    SGSH 100.00 1
    SH3BP2 100.00 1
    SH3PXD2B 100.00 1
    SHH 100.00 1
    SHOX 92.70 1
    HHAT 99.98 1
    SLC10A7 99.95 1
    SLC17A5 99.71 1
    SLC26A2 100.00 1
    SLC29A3 99.98 1
    SLC34A1 99.99 1
    SLC34A3 100.00 1
    SLC35C1 100.00 1
    SLC35D1 87.50 1
    SLC39A13 99.98 1
    SLCO2A1 99.99 1
    SLCO5A1 99.98 1
    SMAD3 99.99 1
    SMAD4 99.97 1
    SMARCAL1 99.97 1
    SMC1A 99.98 1
    SMC3 99.91 1
    SMO 99.99 1
    SMOC1 100.00 1
    SNRPB 99.96 1
    SNX10 99.96 1
    SOST 100.00 1
    SOX9 100.00 1
    SP7 100.00 1
    SPARC 99.94 1
    SUCO 98.05 1
    SULF1 99.99 1
    SUMF1 99.95 1
    TALDO1 100.00 1
    TAPT1 99.64 1
    TBCE 99.91 1
    TBX15 99.81 1
    TBX3 100.00 1
    TBX4 99.96 1
    TBX5 99.98 1
    TBX6 99.99 1
    TBXAS1 100.00 1
    TCF12 99.97 1
    TCIRG1 99.99 1
    TCOF1 99.99 1
    TCTN2 99.99 1
    TCTN3 99.92 1
    TENT5A 99.97 1
    TERT 100.00 1
    TGFB1 100.00 1
    TGFB2 99.87 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    THPO 100.00 1
    TMEM165 99.97 1
    TMEM216 99.98 1
    TMEM231 88.88 1
    TMEM38B 99.95 1
    TMEM67 99.69 1
    TNFRSF11A 100.00 1
    TNFRSF11B 100.00 1
    TNFSF11 99.89 1
    TONSL 100.00 1
    TP63 99.97 1
    TRAPPC2 99.41 1
    TREM2 100.00 1
    TRIP11 99.90 1
    TRPS1 100.00 1
    TRPV4 100.00 1
    TRPV6 99.99 1
    TTC21B 99.50 1
    TTC8 99.67 1
    TWIST1 100.00 1
    TYROBP 99.95 1
    VDR 99.86 1
    VPS35L 99.07 1
    WDPCP 99.87 1
    WDR19 99.80 1
    WDR35 99.92 1
    WNT1 99.97 1
    WNT10B 99.97 1
    WNT3 99.99 1
    WNT3A 100.00 1
    WNT5A 100.00 1
    WNT7A 99.99 1
    XRCC4 99.89 1
    XYLT1 99.98 1
    XYLT2 99.97 1
    ZMPSTE24 98.70 1
    ZSWIM6 98.94 1
  • Thyroid disgenesis (38 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AP2S1 100.00 0 No comment
    CASR 100.00 0 No comment
    CDCA8 100.00 0 No comment
    DUOX1 100.00 0 No comment
    DUOX2 100.00 0 No comment
    DUOXA2 100.00 0 No comment
    DYRK1A 100.00 0 No comment
    ELN 100.00 0 No comment
    FOXE1 60.48 0 No comment
    GAS1 62.99 0 No comment
    GLIS3 100.00 0 No comment
    GNA11 99.51 0 No comment
    GNAS 98.96 0 No comment
    GNAS-AS1 100.00 0 No comment
    IYD 100.00 0 No comment
    JAG1 99.66 0 No comment
    KAT6B 100.00 0 No comment
    KDM6A 100.00 0 No comment
    KMT2D 100.00 0 No comment
    NKX2-1 92.46 0 No comment
    NKX2-5 100.00 0 No comment
    NTN1 95.84 0 No comment
    PAX8 100.00 0 No comment
    SALL1 100.00 0 No comment
    SECISBP2 98.68 0 No comment
    SLC11A2 100.00 0 No comment
    SLC26A4 99.99 0 No comment
    SLC26A7 100.00 0 No comment
    SLC5A5 100.00 0 No comment
    STX16 100.00 0 No comment
    TBX1 77.39 0 No comment
    TG 100.00 0 No comment
    THRA 100.00 0 No comment
    THRB 100.00 0 No comment
    THPO 99.84 0 No comment
    TSHR 100.00 0 No comment
    TUBB1 100.00 0 No comment
    URB1 99.99 0 No comment