1. Analytes
  2. THPO

THPO

Analyte Export to PDF
Name:
thrombopoietin
Symbol:
THPO
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
MPL ligand
MPLLG
TPO
c-mpl ligand
megakaryocyte colony-stimulating factor
megakaryocyte growth and development factor
megakaryocyte stimulating factor
myeloproliferative leukemia virus oncogene ligand
prepro-thrombopoietin
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Endocrine Disorders - Hypothyroidism (42 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    DUOX2 100.00 0 Endocrine Disorders - Hypothyroidism
    DUOXA2 100.00 0 Endocrine Disorders - Hypothyroidism
    FOXE1 85.24 0 Endocrine Disorders - Hypothyroidism
    GAS1 78.95 0 Endocrine Disorders - Hypothyroidism
    GLIS3 100.00 0 Endocrine Disorders - Hypothyroidism
    GNA11 99.57 0 Endocrine Disorders - Hypothyroidism
    GNAS 100.00 0 Endocrine Disorders - Hypothyroidism
    GNAS-AS1 100.00 0 Endocrine Disorders - Hypothyroidism
    HESX1 100.00 0 Endocrine Disorders - Hypothyroidism
    IGSF1 100.00 0 Endocrine Disorders - Hypothyroidism
    IYD 100.00 0 Endocrine Disorders - Hypothyroidism
    LHX3 90.58 0 Endocrine Disorders - Hypothyroidism
    LHX4 100.00 0 Endocrine Disorders - Hypothyroidism
    NKX2-1 97.73 0 Endocrine Disorders - Hypothyroidism
    NKX2-5 100.00 0 Endocrine Disorders - Hypothyroidism
    OTX2 100.00 0 Endocrine Disorders - Hypothyroidism
    PAX8 99.96 0 Endocrine Disorders - Hypothyroidism
    POU1F1 100.00 0 Endocrine Disorders - Hypothyroidism
    PRKAR1A 100.00 0 Endocrine Disorders - Hypothyroidism
    PROP1 100.00 0 Endocrine Disorders - Hypothyroidism
    SECISBP2 97.69 0 Endocrine Disorders - Hypothyroidism
    SLC5A5 99.97 0 Endocrine Disorders - Hypothyroidism
    SLC16A2 99.51 0 Endocrine Disorders - Hypothyroidism
    SLC26A4 99.97 0 Endocrine Disorders - Hypothyroidism
    SOX3 97.06 0 Endocrine Disorders - Hypothyroidism
    STX16 99.93 0 Endocrine Disorders - Hypothyroidism
    TBL1X 99.87 0 Endocrine Disorders - Hypothyroidism
    TG 100.00 0 Endocrine Disorders - Hypothyroidism
    THRA 100.00 0 Endocrine Disorders - Hypothyroidism
    THRB 100.00 0 Endocrine Disorders - Hypothyroidism
    THPO 99.80 0 Endocrine Disorders - Hypothyroidism
    TRHR 100.00 0 Endocrine Disorders - Hypothyroidism
    TSHB 100.00 0 Endocrine Disorders - Hypothyroidism
    TSHR 100.00 0 Endocrine Disorders - Hypothyroidism
  • Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANKRD26 0.00 0
    BPGM 0.00 0
    CSF1R 0.00 0
    CSF3R 0.00 0
    DDX41 0.00 0
    EGLN1 0.00 0
    ELANE 0.00 0
    EPAS1 0.00 0
    EPO 0.00 0
    EPOR 0.00 0
    GATA2 0.00 0
    JAK1 0.00 0
    JAK2 0.00 0
    JAK3 0.00 0
    MPL 0.00 0
    PIEZO1 0.00 0
    SLC30A10 0.00 0
    STAT3 0.00 0
    STAT5B 0.00 0
    THPO 0.00 0
    VHL 0.00 0
    SH2B3 0.00 0
  • Hematologic Familiar Forms - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    RPS7 88.11 0 No
    CHEK2 80.48 0 No
    PTPN11 95.76 0 No
    KRAS 96.88 0 No
    RPS10 98.48 0 No
    FANCM 97.86 0 No
    RPL35A 98.16 0 No
    RPS24 98.39 0 No
    ANKRD26 100.00 0 Genomic start 27389256 to genomic end 27389427 UTR position
    RPL5 96.83 0 No
    SHQ1 97.53 0 No
    RPS26 98.64 0 No
    SRP72 97.98 0 No
    FANCL 98.99 0 No
    EGLN1 98.71 0 No
    JAK2 97.81 0 No
    DNAJC21 98.55 0 No
    NF1 96.15 0 No
    BLM 98.77 0 No
    SBF2 99.19 0 No
    MSH2 98.36 0 No
    ATM 98.90 0 No
    ERCC4 98.33 0 No
    RPL11 99.02 0 No
    NBN 99.57 0 No
    PMS2 98.87 0 No
    ATG2B 99.33 0 No
    BRCA2 99.11 0 No
    ERCC6L2 99.48 0 No
    ATR 99.19 0 No
    VPS45 99.60 0 No
    SRP54 99.44 0 No
    SBDS 96.51 0 No
    UBE2T 98.01 0 No
    RBM8A 99.34 0 No
    RAD51C 99.83 0 No
    FANCC 99.72 0 No
    FANCD2 99.00 0 No
    BRIP1 99.61 0 No
    BRCA1 99.80 0 No
    CEBPA 99.48 0 No
    PARN 99.84 0 No
    MSH6 99.84 0 No
    MECOM 99.83 0 No
    PALB2 99.80 0 No
    FANCE 97.83 0 No
    PAX5 99.72 0 No
    RAD51 99.94 0 No
    ATRX 99.85 0 No
    FANCB 99.61 0 No
    FANCI 99.66 0 No
    STN1 99.75 0 No
    NHP2 99.79 0 No
    MLH1 99.86 0 No
    TERT 100.00 0 Genomic start 1295105 to genomic end 1295162 UTR position
    XRCC2 99.97 0 No
    FANCA 99.93 0 No
    EPAS1 99.62 0 No
    TET2 99.97 0 No
    HAX1 99.98 0 No
    SLX4 99.98 0 No
    CBL 99.87 0 No
    WAS 99.90 0 No
    USB1 100.00 0 No
    EPO 99.99 0 No
    VHL 99.98 0 No
    MAD2L2 100.00 0 No
    RUNX1 99.94 0 No
    CTC1 99.99 0 No
    GSKIP 99.99 0 No
    DKC1 100.00 0 Genomic start 153991031 to genomic end 153991240 UTR position
    SAMD9L 99.96 0 No
    MPL 99.99 0 No
    ETV6 100.00 0 No
    LIG4 99.98 0 No
    NOP10 99.99 0 No
    G6PC3 100.00 0 No
    CSF3R 100.00 0 No
    SAMD9 100.00 0 No
    ELANE 100.00 0 No
    GATA2 100.00 0 No
    RPS19 100.00 0 No
    GFI1 100.00 0 No
    FANCF 100.00 0 No
    TPP1 99.99 0 No
    FANCG 100.00 0 No
    WRAP53 100.00 0 No
    TP53 100.00 0 No
    TINF2 100.00 0 No
    EPOR 100.00 0 No
    DDX41 100.00 0 No
    THPO 100.00 0 No
    TERC 100.00 0 Genomic start 169482849 to genomic end 169483098 UTR position
    RTEL1 100.00 0 Genomic start 62326911 to genomic end 62326911 and genomic start 62326900 to genomic end 62326928 and genomic start 62326958 to genomic end 62326986 intronic positions and 99.98 for CDS
  • 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
  • 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
  • Skeletal dysplasia (394 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 0 No comment
    ABL1 100.00 0 No comment
    ACAN 98.89 0 No comment
    ACP4 100.00 0 No comment
    ACP5 100.00 0 No comment
    ACVR1 100.00 0 No comment
    ADAMTS10 99.88 0 No comment
    ADAMTS17 89.95 0 No comment
    ADAMTSL2 100.00 0 No comment
    AFF4 100.00 0 No comment
    AGA 100.00 0 No comment
    AGPS 100.00 0 No comment
    AHDC1 100.00 0 No comment
    AKT1 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
    ANKH 100.00 0 No comment
    ANO5 100.00 0 No comment
    ANTXR2 100.00 0 No comment
    APC 100.00 0 No comment
    ARCN1 100.00 0 No comment
    ARHGAP31 100.00 0 No comment
    ARID1A 94.64 0 No comment
    ARID1B 92.99 0 No comment
    SLURP1 85.73 0 No comment
    ARSL 100.00 0 No comment
    ASCC1 91.27 0 No comment
    ASXL2 100.00 0 No comment
    ATP6V0A2 100.00 0 No comment
    B3GALT6 56.12 0 No comment
    B3GAT3 95.56 0 No comment
    B4GALT7 93.23 0 No comment
    BGN 100.00 0 No comment
    BHLHA9 38.48 0 No comment
    BMP1 99.86 0 No comment
    BMP2 100.00 0 No comment
    BMPER 100.00 0 No comment
    BMPR1B 100.00 0 No comment
    BRIP1 100.00 0 No comment
    C1R 100.00 0 No comment
    C1S 100.00 0 No comment
    C2CD3 100.00 0 No comment
    CA2 100.00 0 No comment
    CANT1 100.00 0 No comment
    CASR 100.00 0 No comment
    CC2D2A 98.16 0 No comment
    CCDC8 100.00 0 No comment
    CCN6 100.00 0 No comment
    CCNQ 84.41 0 No comment
    CD96 100.00 0 No comment
    CDC45 100.00 0 No comment
    CDC6 100.00 0 No comment
    CDH3 100.00 0 No comment
    CDKN1C 62.25 0 No comment
    CDT1 87.95 0 No comment
    CEP120 100.00 0 No comment
    CEP290 99.99 0 No comment
    CHD7 100.00 0 No comment
    CHST14 98.57 0 No comment
    CHST3 100.00 0 No comment
    CHSY1 91.67 0 No comment
    CKAP2L 100.00 0 No comment
    CLCN5 100.00 0 No comment
    CLCN7 94.99 0 No comment
    COG1 99.24 0 No comment
    COL10A1 100.00 0 No comment
    COL11A1 100.00 0 No comment
    COL11A2 99.14 0 No comment
    COL1A1 100.00 0 No comment
    COL1A2 99.93 0 No comment
    COL2A1 100.00 0 No comment
    COL9A1 100.00 0 No comment
    COL9A2 100.00 0 No comment
    COL9A3 96.41 0 No comment
    COMP 99.90 0 No comment
    CPLANE1 100.00 0 No comment
    CREB3L1 100.00 0 No comment
    CREBBP 100.00 0 No comment
    CRTAP 89.72 0 No comment
    CSPP1 100.00 0 No comment
    CTSA 100.00 0 No comment
    CTSK 100.00 0 No comment
    CUL7 99.99 0 No comment
    CYP26B1 100.00 0 No comment
    DDR2 100.00 0 No comment
    RIGI 100.00 0 No comment
    DDX59 100.00 0 No comment
    DHCR24 99.96 0 No comment
    DHODH 100.00 0 No comment
    DLL3 78.42 0 No comment
    DLX3 100.00 0 No comment
    DLX5 100.00 0 No comment
    DLX6 99.69 0 No comment
    DMP1 100.00 0 No comment
    DOCK6 99.12 0 No comment
    DVL1 100.00 0 No comment
    DVL3 100.00 0 No comment
    DYM 100.00 0 No comment
    DYNC2H1 100.00 0 No comment
    DYNC2LI1 100.00 0 No comment
    GLB1 100.00 0 No comment
    EDNRA 100.00 0 No comment
    EFNA4 100.00 0 No comment
    EFNB1 100.00 0 No comment
    EFTUD2 100.00 0 No comment
    EIF2AK3 95.52 0 No comment
    EIF4A3 100.00 0 No comment
    ELMO2 100.00 0 No comment
    ENPP1 96.48 0 No comment
    EOGT 100.00 0 No comment
    EP300 100.00 0 No comment
    ERCC4 100.00 0 No comment
    ERF 100.00 0 No comment
    ESCO2 100.00 0 No comment
    EVC 94.45 0 No comment
    EVC2 99.55 0 No comment
    EXT1 100.00 0 No comment
    EXT2 100.00 0 No comment
    EZH2 100.00 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
    FBLN1 95.59 0 No comment
    FBN1 100.00 0 No comment
    FBN2 100.00 0 No comment
    FBXW4 92.44 0 No comment
    FERMT3 100.00 0 No comment
    FGF10 100.00 0 No comment
    FGF16 100.00 0 No comment
    FGF23 100.00 0 No comment
    FGF3 80.02 0 No comment
    FGF4 70.06 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
    FIG4 100.00 0 No comment
    FKBP10 100.00 0 No comment
    FLNA 100.00 0 No comment
    FLNB 100.00 0 No comment
    FMN1 100.00 0 No comment
    FN1 100.00 0 No comment
    FREM1 100.00 0 No comment
    FUCA1 100.00 0 No comment
    FZD2 98.72 0 No comment
    GALNS 96.18 0 No comment
    GALNT3 100.00 0 No comment
    GDF3 100.00 0 No comment
    GDF5 100.00 0 No comment
    GDF6 93.56 0 No comment
    GJA1 100.00 0 No comment
    GLI3 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
    GNS 100.00 0 No comment
    GORAB 100.00 0 No comment
    GPC3 100.00 0 No comment
    GPC6 100.00 0 No comment
    GPR68 100.00 0 No comment
    GPX4 87.15 0 No comment
    GREM1 100.00 0 No comment
    GUSB 100.00 0 No comment
    HDAC4 100.00 0 No comment
    HDAC8 100.00 0 No comment
    HES7 99.67 0 No comment
    HOXA11 99.40 0 No comment
    HOXA13 73.35 0 No comment
    HOXD13 80.52 0 No comment
    HPGD 99.99 0 No comment
    HSPG2 99.43 0 No comment
    HUWE1 100.00 0 No comment
    CILK1 100.00 0 No comment
    IDH1 100.00 0 No comment
    IDH2 92.01 0 No comment
    IDS 100.00 0 No comment
    IFITM5 100.00 0 No comment
    IFT122 100.00 0 No comment
    IFT140 100.00 0 No comment
    IFT172 100.00 0 No comment
    IFT43 100.00 0 No comment
    IFT80 100.00 0 No comment
    IGF1R 100.00 0 No comment
    IHH 99.88 0 No comment
    IKBKG 99.74 0 No comment
    IL11RA 100.00 0 No comment
    IL1RN 100.00 0 No comment
    BPNT2 98.65 0 No comment
    INPPL1 96.74 0 No comment
    JAG1 99.66 0 No comment
    KAT6B 100.00 0 No comment
    KIF22 100.00 0 No comment
    KIF7 96.94 0 No comment
    KRAS 100.00 0 No comment
    LBR 100.00 0 No comment
    LEMD3 100.00 0 No comment
    LFNG 82.55 0 No comment
    LIFR 100.00 0 No comment
    LMBR1 100.00 0 No comment
    LMNA 99.93 0 No comment
    LMX1B 99.99 0 No comment
    LONP1 99.83 0 No comment
    LPIN2 100.00 0 No comment
    LRIT3 100.00 0 No comment
    CORIN 98.90 0 No comment
    LRP5 97.87 0 No comment
    LTBP2 100.00 0 No comment
    LTBP3 96.02 0 No comment
    MAB21L2 100.00 0 No comment
    MAFB 99.89 0 No comment
    MAN2B1 100.00 0 No comment
    MAN2C1 100.00 0 No comment
    MAP3K7 100.00 0 No comment
    MATN3 86.25 0 No comment
    MEGF8 99.99 0 No comment
    MEOX1 100.00 0 No comment
    MESP2 100.00 0 No comment
    MGP 100.00 0 No comment
    MITF 100.00 0 No comment
    MKS1 100.00 0 No comment
    MMP13 100.00 0 No comment
    MMP2 100.00 0 No comment
    MMP9 100.00 0 No comment
    MNX1 71.50 0 No comment
    MSX2 100.00 0 No comment
    MYCN 86.70 0 No comment
    MYT1 100.00 0 No comment
    NAGLU 87.38 0 No comment
    NEK1 100.00 0 No comment
    NEU1 100.00 0 No comment
    NF1 99.95 0 No comment
    NFIX 97.15 0 No comment
    NIPBL 99.98 0 No comment
    NKX3-2 96.89 0 No comment
    NLRP3 100.00 0 No comment
    NOG 100.00 0 No comment
    NOTCH2 99.76 0 No comment
    NPRL2 100.00 0 No comment
    NSD1 100.00 0 No comment
    NSDHL 100.00 0 No comment
    NTRK2 100.00 0 No comment
    OBSL1 98.31 0 No comment
    OFD1 99.88 0 No comment
    SLC25A15 100.00 0 No comment
    ORC4 100.00 0 No comment
    ORC6 100.00 0 No comment
    OSTM1 99.55 0 No comment
    P3H1 99.77 0 No comment
    P4HB 99.90 0 No comment
    PALB2 100.00 0 No comment
    PAM16 96.78 0 No comment
    PANK2 98.60 0 No comment
    PAPSS2 100.00 0 No comment
    PCNT 100.00 0 No comment
    PCYT1A 100.00 0 No comment
    PDE3A 100.00 0 No comment
    PDE4D 98.77 0 No comment
    PEX7 91.13 0 No comment
    PGM3 99.99 0 No comment
    PHEX 100.00 0 No comment
    PIGV 100.00 0 No comment
    PIK3CA 100.00 0 No comment
    PITX1 98.27 0 No comment
    PLEKHM1 100.00 0 No comment
    PLOD2 100.00 0 No comment
    PLS3 100.00 0 No comment
    POLR1A 100.00 0 No comment
    POLR1C 100.00 0 No comment
    POLR1D 100.00 0 No comment
    BVES 100.00 0 No comment
    PORCN 100.00 0 No comment
    PPIB 100.00 0 No comment
    PRKAR1A 100.00 0 No comment
    PROK2 98.51 0 No comment
    PTDSS1 100.00 0 No comment
    PTH1R 99.01 0 No comment
    PTHLH 100.00 0 No comment
    PTPN11 98.80 0 No comment
    PYCR1 100.00 0 No comment
    RAB23 100.00 0 No comment
    RAB33B 100.00 0 No comment
    RAD21 100.00 0 No comment
    RAD51C 100.00 0 No comment
    RASGRP2 100.00 0 No comment
    RBM8A 100.00 0 No comment
    RBPJ 100.00 0 No comment
    RECQL4 96.37 0 No comment
    RMRP 100.00 0 No comment
    RNU4ATAC 100.00 0 No comment
    ROR2 98.67 0 No comment
    RPGRIP1L 96.45 0 No comment
    RSPO2 100.00 0 No comment
    RSPRY1 100.00 0 No comment
    RUNX2 98.51 0 No comment
    SALL1 100.00 0 No comment
    SALL4 100.00 0 No comment
    SBDS 100.00 0 No comment
    SEC24D 100.00 0 No comment
    SERPINF1 100.00 0 No comment
    SERPINH1 100.00 0 No comment
    SETD2 100.00 0 No comment
    SF3B4 100.00 0 No comment
    SH3BP2 91.63 0 No comment
    SH3PXD2B 99.68 0 No comment
    SHOX 90.47 0 No comment
    HHAT 90.28 0 No comment
    SLC17A5 100.00 0 No comment
    SLC26A2 99.96 0 No comment
    SLC29A3 98.83 0 No comment
    SLC34A3 100.00 0 No comment
    SLC35D1 99.99 0 No comment
    SLC39A13 100.00 0 No comment
    SLCO5A1 100.00 0 No comment
    SLX4 100.00 0 No comment
    SMAD3 100.00 0 No comment
    SMAD4 100.00 0 No comment
    SMARCA2 98.07 0 No comment
    SMARCA4 100.00 0 No comment
    SMARCAL1 100.00 0 No comment
    SMARCB1 100.00 0 No comment
    SMC1A 100.00 0 No comment
    SMC3 100.00 0 No comment
    SMO 94.17 0 No comment
    SNRPB 100.00 0 No comment
    SNX10 100.00 0 No comment
    SOST 99.39 0 No comment
    SOX6 100.00 0 No comment
    SOX9 97.88 0 No comment
    SP7 100.00 0 No comment
    STAT3 100.00 0 No comment
    SULF1 100.00 0 No comment
    SUMF1 100.00 0 No comment
    TBCE 100.00 0 No comment
    TBX15 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
    TBXAS1 100.00 0 No comment
    TCF12 100.00 0 No comment
    TCIRG1 100.00 0 No comment
    TCOF1 99.99 0 No comment
    TCTN3 100.00 0 No comment
    TGDS 100.00 0 No comment
    TGFB1 99.97 0 No comment
    TGFB2 100.00 0 No comment
    TGFBR1 92.91 0 No comment
    TGFBR2 100.00 0 No comment
    THPO 100.00 0 No comment
    TMCO1 100.00 0 No comment
    TMEM216 100.00 0 No comment
    TMEM38B 100.00 0 No comment
    TMEM67 100.00 0 No comment
    TNFRSF11B 100.00 0 No comment
    TP63 100.00 0 No comment
    TRAPPC2 95.31 0 No comment
    TREM2 100.00 0 No comment
    TRIP11 100.00 0 No comment
    TRIP4 100.00 0 No comment
    TRPS1 100.00 0 No comment
    TRPV4 100.00 0 No comment
    TTC21B 100.00 0 No comment
    TWIST1 70.93 0 No comment
    TYROBP 100.00 0 No comment
    UBE2T 100.00 0 No comment
    WDR19 100.00 0 No comment
    DYNC2I2 93.01 0 No comment
    WDR35 100.00 0 No comment
    WNT1 98.70 0 No comment
    WNT10B 98.99 0 No comment
    WNT3 100.00 0 No comment
    WNT5A 99.97 0 No comment
    WNT6 96.35 0 No comment
    WNT7A 100.00 0 No comment
    XYLT1 88.83 0 No comment
    XYLT2 98.70 0 No comment
    ZEB2 100.00 0 No comment
    ZIC1 100.00 0 No comment
    ZMPSTE24 100.00 0 No comment
    ZSWIM6 88.87 0 No comment
  • Skeletal dysplasia (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALPL 100.00 1
    ALX3 100.00 1
    ARID1A 99.99 1
    B3GALT6 92.42 1
    CDC73 99.98 1
    COL11A1 99.99 1
    COL9A2 100.00 1
    CTSK 100.00 1
    DDR2 100.00 1
    DHCR24 100.00 1
    DVL1 100.00 1
    FAM20B 100.00 1
    FUCA1 100.00 1
    GNAI3 99.99 1
    GNPAT 99.96 1
    GORAB 99.99 1
    HHAT 100.00 1
    HS2ST1 99.93 1
    HSPG2 99.99 1
    IARS2 100.00 1
    LBR 99.99 1
    LMNA 100.00 1
    NLRP3 100.00 1
    NMNAT1 95.03 1
    NOTCH2 100.00 1
    NRAS 99.97 1
    ORC1 100.00 1
    P3H1 100.00 1
    PHGDH 100.00 1
    PIGV 100.00 1
    PLOD1 100.00 1
    POLR3GL 100.00 1
    PRKACB 100.00 1
    PRRX1 100.00 1
    RBM8A 100.00 1
    SDCCAG8 99.99 1
    SF3B4 100.00 1
    SKI 100.00 1
    SLC25A24 99.30 1
    SLC35D1 99.68 1
    TBCE 100.00 1
    TBX15 100.00 1
    TGFB2 100.00 1
    TMCO1 99.91 1
    TMEM53 100.00 1
    ZMPSTE24 99.99 1
    CHST3 100.00 1
    DNA2 99.99 1
    FBXW4 98.98 1
    FGFR2 100.00 1
    KAT6B 100.00 1
    KIF5B 99.93 1
    PAPSS2 99.93 1
    POLR3A 100.00 1
    SLC29A3 100.00 1
    SMC3 99.98 1
    TCTN3 100.00 1
    ALG9 94.06 1
    ALX4 100.00 1
    ANO5 100.00 1
    ARCN1 100.00 1
    B3GAT3 94.88 1
    BANF1 100.00 1
    BBS1 100.00 1
    C2CD3 99.99 1
    CDKN1C 100.00 1
    CREB3L1 100.00 1
    CYP2R1 98.84 1
    DPAGT1 100.00 1
    DYNC2H1 99.84 1
    EED 100.00 1
    EXT2 100.00 1
    FAM111A 100.00 1
    FAR1 99.98 1
    FERMT3 100.00 1
    HRAS 100.00 1
    IFITM5 100.00 1
    INPPL1 99.93 1
    LRP4 100.00 1
    LRP5 100.00 1
    LTBP3 100.00 1
    MMP13 99.99 1
    NADSYN1 100.00 1
    PIK3C2A 99.99 1
    PLCB3 100.00 1
    RASGRP2 100.00 1
    SERPINH1 100.00 1
    SLC39A13 100.00 1
    TCIRG1 100.00 1
    TMEM138 100.00 1
    TMEM216 100.00 1
    ABCC9 99.99 1
    ALX1 100.00 1
    ATP6V0A2 100.00 1
    BBS10 100.00 1
    CEP290 99.84 1
    CHST11 100.00 1
    COL2A1 100.00 1
    CYP27B1 100.00 1
    FGF23 100.00 1
    GDF3 100.00 1
    GNPTAB 100.00 1
    GNS 100.00 1
    IFT81 94.63 1
    LEMD3 100.00 1
    MAPKAPK5 100.00 1
    MGP 100.00 1
    PDE3A 100.00 1
    PEX5 100.00 1
    POLE 100.00 1
    POLR3B 99.98 1
    PTHLH 100.00 1
    PTPN11 99.98 1
    RFLNA 99.50 1
    SP7 100.00 1
    TBX3 100.00 1
    TBX5 100.00 1
    TCTN1 94.52 1
    TCTN2 99.95 1
    TRPV4 100.00 1
    VDR 99.44 1
    VPS33A 95.74 1
    WNT1 100.00 1
    WNT10B 100.00 1
    FGF9 99.98 1
    GPC6 100.00 1
    KL 98.69 1
    POLR1D 99.94 1
    TGDS 99.99 1
    TNFSF11 100.00 1
    AKT1 100.00 1
    GNPNAT1 99.99 1
    GSC 100.00 1
    IFT43 100.00 1
    KIAA0586 95.70 1
    LTBP2 100.00 1
    MMP14 100.00 1
    SEC23A 99.98 1
    SIX1 100.00 1
    SMOC1 100.00 1
    SRP54 99.97 1
    TGFB3 100.00 1
    LYSET 100.00 1
    TRIP11 99.98 1
    TTC8 99.96 1
    ACAN 98.67 1
    ADAMTS17 98.97 1
    BBS4 100.00 1
    CEP152 99.99 1
    CHST14 99.49 1
    CHSY1 99.98 1
    DLL4 100.00 1
    EFL1 100.00 1
    FBN1 100.00 1
    FMN1 100.00 1
    GREM1 100.00 1
    IDH2 99.93 1
    KIF7 99.98 1
    LRRK1 100.00 1
    MAP2K1 100.00 1
    MESD 100.00 1
    MESP2 100.00 1
    PPIB 100.00 1
    SMAD3 100.00 1
    SMAD6 100.00 1
    TCF12 100.00 1
    ANKRD11 100.00 1
    BBS2 100.00 1
    CBFB 100.00 1
    CDH3 100.00 1
    CDK10 100.00 1
    CDT1 99.07 1
    CLCN7 99.78 1
    COG4 100.00 1
    CREBBP 100.00 1
    DHODH 100.00 1
    GALNS 100.00 1
    GINS2 100.00 1
    GNPTG 99.45 1
    IFT140 100.00 1
    KIF22 100.00 1
    MBTPS1 100.00 1
    MMP2 100.00 1
    ORC6 99.99 1
    PAM16 100.00 1
    PRMT7 99.99 1
    RPGRIP1L 98.82 1
    RPL13 100.00 1
    RSPRY1 100.00 1
    SALL1 100.00 1
    TBC1D24 100.00 1
    TBX6 100.00 1
    TMEM231 100.00 1
    TRAF7 100.00 1
    VAC14 100.00 1
    XYLT1 98.81 1
    ACTG1 100.00 1
    BHLHA9 99.55 1
    CANT1 99.97 1
    CDC6 100.00 1
    COG1 100.00 1
    COL1A1 100.00 1
    DLX3 100.00 1
    EFTUD2 100.00 1
    EIF4A3 99.99 1
    FKBP10 100.00 1
    FZD2 100.00 1
    HES7 100.00 1
    KCNJ2 100.00 1
    KIAA0753 100.00 1
    MEOX1 100.00 1
    MKS1 100.00 1
    MYH3 100.00 1
    NAGLU 99.96 1
    NF1 99.98 1
    NOG 100.00 1
    NXN 100.00 1
    P4HB 100.00 1
    PLEKHM1 100.00 1
    PRKAR1A 100.00 1
    PYCR1 100.00 1
    SERPINF1 100.00 1
    SGSH 100.00 1
    SMARCE1 99.97 1
    SOST 100.00 1
    SOX9 100.00 1
    SUZ12 99.97 1
    TBX4 99.45 1
    WNT3 100.00 1
    XYLT2 100.00 1
    DYM 99.99 1
    LPIN2 99.99 1
    RBBP8 99.96 1
    SMAD2 100.00 1
    SMAD4 100.00 1
    SMCHD1 99.97 1
    TNFRSF11A 97.91 1
    ACP5 100.00 1
    ADAMTS10 100.00 1
    AKT2 100.00 1
    APC2 99.99 1
    B9D2 100.00 1
    CCDC8 100.00 1
    COMP 100.00 1
    DLL3 99.85 1
    DOCK6 100.00 1
    EPS15L1 100.00 1
    ERF 100.00 1
    FUZ 100.00 1
    GPX4 96.50 1
    LONP1 100.00 1
    MAN2B1 100.00 1
    MEGF8 99.96 1
    NFIX 99.97 1
    PRKACA 100.00 1
    SMARCA4 100.00 1
    TGFB1 100.00 1
    TYROBP 100.00 1
    UBA2 99.97 1
    ACVR1 100.00 1
    AFF3 100.00 1
    AGPS 99.76 1
    ANAPC1 99.82 1
    ARHGAP25 100.00 1
    BBS5 99.97 1
    CKAP2L 100.00 1
    COLEC11 100.00 1
    CRIPT 100.00 1
    CYP26B1 100.00 1
    DNMT3A 100.00 1
    DYNC2LI1 100.00 1
    EIF2AK3 99.96 1
    EN1 100.00 1
    EXOC6B 99.77 1
    FN1 100.00 1
    FOSL2 100.00 1
    GALNT3 99.99 1
    GLI2 100.00 1
    HAAO 100.00 1
    HDAC4 100.00 1
    HOXD13 100.00 1
    IDH1 100.00 1
    IFIH1 99.99 1
    IFT172 100.00 1
    IHH 100.00 1
    IL1RN 100.00 1
    KYNU 99.99 1
    LTBP1 100.00 1
    MAP3K20 100.00 1
    MATN3 99.95 1
    MTX2 99.95 1
    MYCN 99.97 1
    NBAS 100.00 1
    NPPC 100.00 1
    OBSL1 99.99 1
    ORC4 100.00 1
    PAX3 100.00 1
    PKDCC 99.76 1
    POLR1A 100.00 1
    POLR1B 100.00 1
    SIX2 100.00 1
    SMARCAL1 100.00 1
    TMEM237 99.98 1
    TRAF3IP1 100.00 1
    TTC21B 99.97 1
    WDPCP 91.91 1
    WDR35 99.99 1
    WNT6 100.00 1
    ASXL1 100.00 1
    BMP2 99.98 1
    COL9A3 100.00 1
    CTSA 100.00 1
    DDRGK1 100.00 1
    DPM1 97.07 1
    ELMO2 100.00 1
    GDF5 100.00 1
    GNAS 100.00 1
    GZF1 100.00 1
    IFT52 100.00 1
    LAMA5 99.87 1
    MAFB 100.00 1
    MKKS 99.98 1
    MMP9 100.00 1
    PLCB4 100.00 1
    SALL4 100.00 1
    SNRPB 100.00 1
    CFAP410 100.00 1
    DONSON 99.81 1
    PCNT 100.00 1
    ALG12 100.00 1
    CCDC134 100.00 1
    CDC45 100.00 1
    EP300 100.00 1
    FBLN1 99.89 1
    MCM5 100.00 1
    MYO18B 100.00 1
    PISD 100.00 1
    SMARCB1 100.00 1
    SPECC1L 100.00 1
    ALG3 100.00 1
    ARHGAP31 100.00 1
    ARL6 100.00 1
    ATR 99.98 1
    CASR 100.00 1
    COPB2 100.00 1
    CRTAP 99.90 1
    DVL3 100.00 1
    DYNLT2B 100.00 1
    EOGT 99.99 1
    FLNB 100.00 1
    GLB1 100.00 1
    HYAL1 100.00 1
    IFT122 100.00 1
    IFT80 99.94 1
    LMOD3 100.00 1
    MASP1 100.00 1
    MECOM 100.00 1
    NEPRO 99.99 1
    PCYT1A 100.00 1
    PIK3CA 99.97 1
    PLOD2 99.95 1
    POC1A 100.00 1
    PTH1R 100.00 1
    SETD2 99.99 1
    SLCO2A1 100.00 1
    SUMF1 100.00 1
    TGFBR2 100.00 1
    THPO 100.00 1
    TOP2B 99.85 1
    TP63 99.99 1
    TRAIP 100.00 1
    WNT5A 100.00 1
    WNT7A 100.00 1
    ZIC1 100.00 1
    AGA 100.00 1
    ANTXR2 100.00 1
    BBS12 100.00 1
    BBS7 99.97 1
    BMPR1B 100.00 1
    CC2D2A 98.21 1
    CENPE 99.92 1
    DMP1 100.00 1
    DSPP 100.00 1
    EDNRA 100.00 1
    EVC 96.08 1
    EVC2 100.00 1
    FGFR3 100.00 1
    HPGD 99.99 1
    IDUA 99.84 1
    INTU 100.00 1
    MAB21L2 100.00 1
    MANBA 99.99 1
    NEK1 99.99 1
    NKX3-2 100.00 1
    PRKG2 99.98 1
    RAB33B 100.00 1
    RBPJ 100.00 1
    SEC24D 100.00 1
    SGMS2 100.00 1
    SH3BP2 98.03 1
    SLC10A7 100.00 1
    TAPT1 98.76 1
    TMEM165 99.97 1
    UFSP2 99.99 1
    WDR19 99.94 1
    ANKH 100.00 1
    ARSB 99.92 1
    ARSK 99.98 1
    B4GALT7 99.95 1
    BNIP1 100.00 1
    CEP120 99.96 1
    CPLANE1 99.97 1
    CSF1R 100.00 1
    DNAJC21 100.00 1
    FBN2 99.99 1
    FGF10 100.00 1
    HSPA9 100.00 1
    IL6ST 99.99 1
    KIAA0825 99.99 1
    LIFR 99.94 1
    MSX2 100.00 1
    NIPBL 99.91 1
    NPR3 100.00 1
    NSD1 100.00 1
    PDE4D 99.99 1
    PDGFRB 100.00 1
    PITX1 100.00 1
    SH3PXD2B 100.00 1
    SLC26A2 100.00 1
    SPARC 100.00 1
    SQSTM1 100.00 1
    TCOF1 100.00 1
    XRCC4 100.00 1
    ZSWIM6 97.48 1
    ARID1B 99.51 1
    CCN6 100.00 1
    CILK1 99.92 1
    COL10A1 100.00 1
    COL11A2 100.00 1
    COL9A1 99.99 1
    CUL7 100.00 1
    DSE 99.66 1
    EDN1 100.00 1
    ENPP1 99.27 1
    FIG4 100.00 1
    FOXC1 99.89 1
    GCM2 100.00 1
    GJA1 100.00 1
    GMNN 99.99 1
    ID4 97.95 1
    MAP3K7 100.00 1
    MCM3 100.00 1
    NEU1 100.00 1
    OSTM1 99.96 1
    PEX7 100.00 1
    PGM3 100.00 1
    POLR1C 97.57 1
    RAB23 100.00 1
    RIPPLY2 99.85 1
    RUNX2 100.00 1
    SCUBE3 100.00 1
    SLC17A5 99.99 1
    SLC35B2 100.00 1
    TAB2 100.00 1
    TENT5A 100.00 1
    TFAP2B 100.00 1
    TREM2 100.00 1
    ACTB 100.00 1
    BBS9 99.96 1
    BMPER 100.00 1
    COL1A2 100.00 1
    CYP3A4 99.94 1
    DLX5 100.00 1
    DLX6 100.00 1
    DYNC2I1 96.68 1
    EZH2 99.98 1
    FAM20C 99.99 1
    FKBP14 99.95 1
    GLI3 100.00 1
    GUSB 100.00 1
    HOXA11 100.00 1
    HOXA13 96.84 1
    KDELR2 100.00 1
    LFNG 94.20 1
    LMBR1 99.96 1
    MCM7 100.00 1
    MET 100.00 1
    MNX1 87.84 1
    POR 100.00 1
    RINT1 99.95 1
    SBDS 100.00 1
    SFRP4 100.00 1
    SHH 100.00 1
    SLC4A2 100.00 1
    SMO 99.99 1
    SNX10 99.97 1
    TBXAS1 99.99 1
    TRPV6 99.41 1
    TWIST1 100.00 1
    ASAH1 99.99 1
    BMP1 100.00 1
    BPNT2 100.00 1
    CA2 100.00 1
    COLEC10 100.00 1
    CSGALNACT1 100.00 1
    CSPP1 99.99 1
    ESCO2 99.74 1
    EXT1 100.00 1
    EXTL3 100.00 1
    FGFR1 100.00 1
    GDF6 99.99 1
    HGSNAT 96.79 1
    NSMCE2 100.00 1
    POP1 100.00 1
    PTDSS1 100.00 1
    RAD21 100.00 1
    RECQL4 99.80 1
    RSPO2 100.00 1
    SLCO5A1 100.00 1
    SULF1 100.00 1
    TMEM67 99.30 1
    TNFRSF11B 100.00 1
    TONSL 100.00 1
    TRPS1 100.00 1
    ABL1 100.00 1
    ADAMTSL2 100.00 1
    COL27A1 100.00 1
    RIGI 99.97 1
    DYNC2I2 100.00 1
    HNRNPK 100.00 1
    IL11RA 100.00 1
    LMX1B 100.00 1
    MTAP 100.00 1
    NANS 100.00 1
    NOTCH1 100.00 1
    NPR2 100.00 1
    ROR2 99.98 1
    SLC34A3 100.00 1
    TGFBR1 100.00 1
    TMEM38B 100.00 1
    TRIM32 100.00 1
    VCP 100.00 1
    ZNF462 100.00 1
    AIFM1 100.00 1
    AMER1 100.00 1
    ARSL 100.00 1
    ATP7A 100.00 1
    BGN 100.00 1
    CCNQ 99.81 1
    CLCN5 100.00 1
    EBP 100.00 1
    EFNB1 100.00 1
    FANCB 100.00 1
    FGD1 100.00 1
    FGF16 100.00 1
    FLNA 100.00 1
    GPC3 100.00 1
    GPC4 100.00 1
    HDAC8 100.00 1
    IDS 100.00 1
    IKBKG 100.00 1
    MBTPS2 100.00 1
    MID1 100.00 1
    NSDHL 100.00 1
    OFD1 100.00 1
    PHEX 99.99 1
    PLS3 100.00 1
    PORCN 100.00 1
    SHOX 94.83 1
    SMC1A 100.00 1
    SMS 100.00 1
    TRAPPC2 100.00 1
    ZIC3 100.00 1
  • 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
  • Trombosis - Hemostasis (107 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95%
    ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95%
    ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95%
    ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95%
    ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95%
    ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95%
    ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95%
    ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95%
    ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95%
    ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95%
    CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95%
    CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95%
    COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95%
    COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95%
    COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95%
    COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95%
    COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95%
    COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95%
    CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95%
    DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95%
    ENG 95.00 0 NM_000118.3/ interpretable range CS1>95%
    ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95%
    F10 95.00 0 NM_000504.3/ interpretable range CS1>95%
    F11 95.00 0 NM_000128.3/ interpretable range CS1>95%
    F12 95.00 0 NM_000505.3/ interpretable range CS1>95%
    F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95%
    F13B 95.00 0 NM_001994.2/ interpretable range CS1>95%
    F2 95.00 0 NM_000506.3/ interpretable range CS1>95%
    F5 95.00 0 NM_000130.4/ interpretable range CS1>95%
    F7 95.00 0 NM_000131.4/ interpretable range CS1>95%
    F8 95.00 0 NM_000132.3/ interpretable range CS1>95%
    F9 95.00 0 NM_000133.3/ interpretable range CS1>95%
    FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95%
    FGA 95.00 0 NM_021871.2/ interpretable range CS1>95%
    FGB 95.00 0 NM_005141.4/ interpretable range CS1>95%
    FGG 95.00 0 NM_000509.4/ interpretable range CS1>95%
    FLII 95.00 0 NM_002017.4/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95%
    FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95%
    GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95%
    GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95%
    GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95%
    GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95%
    GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95%
    GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95%
    GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95%
    GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95%
    GP9 95.00 0 NM_000174.4/ interpretable range CS1>95%
    HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95%
    HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95%
    HRG 95.00 0 NM_000412.3/ interpretable range CS1>95%
    IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95%
    ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95%
    ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95%
    KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95%
    KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95%
    LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95%
    LYST 95.00 0 NM_000081.3/ interpretable range CS1>95%
    MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95%
    MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95%
    MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95%
    MPL 95.00 0 NM_005373.2/ interpretable range CS1>95%
    MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95%
    NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95%
    NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95%
    P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95%
    PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95%
    PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95%
    PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95%
    PLG 95.00 0 NM_000301.3/ interpretable range CS1>95%
    PROC 95.00 0 NM_000312.3/ interpretable range CS1>95%
    PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95%
    PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95%
    RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95%
    RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95%
    RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95%
    SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95%
    SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95%
    SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95%
    SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95%
    SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95%
    SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95%
    SRC 95.00 0 NM_005417.4/ interpretable range CS1>95%
    STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95%
    STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95%
    TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95%
    TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95%
    THBD 95.00 0 NM_000361.2/ interpretable range CS1>95%
    THPO 95.00 0 NM_000460.3/ interpretable range CS1>95%
    TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95%
    TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95%
    VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95%
    VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95%
    VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95%
    VWF 95.00 0 NM_000552.3/ interpretable range CS1>95%
    WAS 95.00 0 NM_000377.2/ interpretable range CS1>95%
    RAP1B 95.00 -2 NM_015646.6/ interpretable range CS1>95%