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Centrum Medische Genetica - UZ Gent

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Name of the laboratory:
Centrum Medische Genetica - UZ Gent
Abbreviation:
UGent
RIZIV number:
84499074-996
Address:

C. Heymanslaan, 10
9000 Gent
East Flanders
Belgium
Telephone:
0032 9 332 3603
Fax:
0032 9 332 4970
E-mail:
info.cmgg@uzgent.be
URL:
https://www.cmgg.be/en/
https://www.cmgg.be/en/professionals/labguide/constitutional-genetic-conditions
https://ng3.economie.fgov.be/NI/belac/medilabs/scope_pdf/351-MED.pdf
EQA:
2016 DNA Sequencing – NGS (vGermline) EMQN
2018 DNA Sequencing – NGS (vGermline) EMQN
2019 DNA Sequencing – NGS (vGermline) EMQN
2020 DNA Sequencing – NGS (vGermline) EMQN
2021 DNA Sequencing – NGS (vGermline) EMQN
2015 DNA Sequencing - Sanger EMQN
2016 DNA Sequencing - Sanger EMQN
2017 DNA Sequencing - Sanger EMQN
2018 DNA Sequencing - Sanger EMQN
2019 DNA Sequencing - Sanger EMQN
2020 DNA Sequencing - Sanger EMQN
2021 DNA Sequencing - Sanger EMQN
2015 Postnatal constitutional CNV detection (array) EMQN
2017 Postnatal constitutional CNV detection (array) EMQN
2019 Postnatal constitutional CNV detection (array) GenQA (Genomics Quality Assessment)
2020 Postnatal constitutional CNV detection EMQN
2021 Postnatal constitutional CNV detection EMQN
2018 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2020 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2021 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2015 Blood -postnatal GenQA (Genomics Quality Assessment)
2016 Blood -postnatal GenQA (Genomics Quality Assessment)
2017 Blood -postnatal GenQA (Genomics Quality Assessment)
2018 Blood -postnatal GenQA (Genomics Quality Assessment)
2019 Blood -postnatal GenQA (Genomics Quality Assessment)
2020 Blood postnatal GenQA (Genomics Quality Assessment)
2021 Recurrent miscarriage karyotyping GenQA (Genomics Quality Assessment)
2021 Sex chromosome disorders karyotyping GenQA (Genomics Quality Assessment)
2018 Pathogenicity of sequence variants GenQA (Genomics Quality Assessment)
2019 Pathogenicity of sequence variants GenQA (Genomics Quality Assessment)
2021 Pathogenicity of germline sequence variant GenQA (Genomics Quality Assessment)
2017 PGT for monogenic disorders GenQA (Genomics Quality Assessment)
2018 PGT for monogenic disorders GenQA (Genomics Quality Assessment)
2019 PGT for monogenic disorders GenQA (Genomics Quality Assessment)
2020 PGT for monogenic disorders GenQA (Genomics Quality Assessment)
2021 PGT for monogenic disorders GenQA (Genomics Quality Assessment)
2017 PGT for chromosomal rearrangements (NGS/arrays) GenQA (Genomics Quality Assessment)
2020 PGT for chromosomal rearrangements (NGS/arrays) GenQA (Genomics Quality Assessment)
2017 PGT for common aneuploidies GenQA (Genomics Quality Assessment)
2019 PGT for common aneuploidies GenQA (Genomics Quality Assessment)
2021 PGT for common aneuploidies GenQA (Genomics Quality Assessment)
2021 ISCN (classification only) GenQA (Genomics Quality Assessment)
2021 Pathogenicity of germline postnatal copy number variants (CNV) (Classification only) GenQA (Genomics Quality Assessment)
2020 Pregnancy loss GenQA (Genomics Quality Assessment)
2021 Pregnancy loss GenQA (Genomics Quality Assessment)
Created:
12 Jun 2018 - 14:53
Changed:
06 Jan 2022 - 11:21
  • Achromatopsia (2 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CNGB3
    CNGA3
  • Amyotrophic Lateral Sclerosis (ALS) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALS2 99.87 1
    ANG 100.00 1
    ANXA11 99.71 1
    CCNF 99.99 1
    CHCHD10 100.00 1
    CHMP2B 99.80 1
    DCTN1 99.98 1
    ERBB4 99.92 1
    FIG4 99.83 1
    FUS 99.93 1
    GRN 100.00 1
    HNRNPA1 62.92 1
    HNRNPA2B1 99.90 1
    KIF5A 99.91 1
    MATR3 99.86 1
    NEFH 100.00 1
    NEK1 99.83 1
    OPTN 99.98 1
    PFN1 74.59 1
    SETX 99.97 1
    SIGMAR1 99.99 1
    SLC52A1 100.00 1
    SLC52A2 100.00 1
    SLC52A3 99.94 1
    SOD1 99.97 1
    SPG11 99.89 1
    SQSTM1 100.00 1
    TAF15 99.91 1
    TARDBP 100.00 1
    TBK1 99.07 1
    TUBA4A 100.00 1
    UBQLN2 100.00 1
    UNC13A 99.99 1
    VAPB 100.00 1
    VCP 99.99 1
  • Anterior segment dysgenesis - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    FOXC1 100.00 1
    PITX2 100.00 1
    PITX3 100.00 0
    FOXE3 100.00 0
  • Arrhytmogenic cardiopathy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    DES 100.00 1
    DSC2 100.00 1
    DSG2 100.00 1
    DSP 100.00 1
    JUP 100.00 1
    PKP2 100.00 1
    PLN 100.00 1
    TMEM43 100.00 1
  • Ataxia Spasticity - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 99.88 1
    AARS1 99.99 1
    ABCA2 100.00 1
    ABCB7 99.58 1
    ABCD1 99.98 1
    ABHD12 99.98 1
    ACO2 99.99 1
    ADAR 99.84 1
    ADGRG1 99.90 1
    ADPRS 99.94 1
    AFG3L2 99.97 1
    AGTPBP1 99.68 1
    AHI1 99.86 1
    AIFM1 99.92 1
    AIMP1 99.97 1
    ALDH18A1 99.96 1
    ALDH5A1 96.19 1
    ALG6 93.37 1
    ALS2 99.87 1
    AMPD2 99.91 1
    ANO10 99.93 1
    AP4B1 96.92 1
    AP4E1 99.94 1
    AP4M1 99.98 1
    AP4S1 87.89 1
    AP5Z1 100.00 1
    APOB 99.99 1
    APTX 99.92 1
    ARG1 99.95 1
    ARL13B 99.53 1
    ARL6IP1 99.51 1
    ARSA 99.99 1
    ARSI 100.00 1
    ARX 95.36 1
    ASPA 99.98 1
    ATCAY 100.00 1
    ATG5 99.81 1
    ATL1 99.95 1
    ATM 99.83 1
    ATP13A2 99.96 1
    ATP1A3 99.98 1
    ATP2B3 99.98 1
    ATP7B 100.00 1
    ATP8A2 100.00 1
    AUH 99.95 1
    B4GALNT1 99.97 1
    BCKDHA 99.97 1
    BCKDHB 99.73 1
    BCL11B 100.00 1
    BCS1L 99.99 1
    BICD2 99.99 1
    BSCL2 99.99 1
    BTD 100.00 1
    C19ORF12 99.99 1
    CA8 99.71 1
    CACNA1A 98.16 1
    CACNA1E 99.82 1
    CACNA1G 99.95 1
    CACNB4 99.20 1
    CAMTA1 99.97 1
    CAPN1 99.99 1
    CC2D2A 99.95 1
    CCDC88C 100.00 1
    CCT5 99.99 1
    CDK16 99.99 1
    CEP290 98.10 1
    CHP1 99.90 1
    CLCN2 100.00 1
    CNTNAP1 99.98 1
    COA7 99.91 1
    COQ2 99.90 1
    COQ4 100.00 1
    COQ8A 100.00 1
    COQ9 99.62 1
    COX10 99.99 1
    COX15 100.00 1
    COX20 99.67 1
    CP 99.95 1
    CPT1C 99.99 1
    CSTB 100.00 1
    CTBP1 99.98 1
    CWF19L1 99.91 1
    CYP27A1 100.00 1
    CYP2U1 99.99 1
    CYP7B1 99.82 1
    DAB1 97.87 1
    DARS1 98.85 1
    DARS2 98.31 1
    DBT 94.51 1
    DDHD1 99.93 1
    DDHD2 99.97 1
    DDX3X 99.01 1
    DEGS1 99.99 1
    DLAT 99.65 1
    DLD 99.89 1
    DNAJC19 99.76 1
    DNAJC3 99.92 1
    DNAJC5 99.99 1
    DNMT1 99.13 1
    DOCK3 99.96 1
    EARS2 99.96 1
    EBF3 99.99 1
    ECHS1 100.00 1
    EEF2 99.95 1
    EIF2AK1 99.90 1
    ELOVL1 100.00 1
    ELOVL4 99.91 1
    ELOVL5 99.87 1
    EMC1 99.85 1
    ENTPD1 99.98 1
    EPM2A 99.99 1
    ERCC1 99.96 1
    ERCC4 99.92 1
    ERCC8 99.79 1
    ERLIN1 99.98 1
    ERLIN2 99.94 1
    EXOSC3 100.00 1
    FA2H 99.98 1
    FARS2 100.00 1
    FASTKD2 99.93 1
    FAT2 99.99 1
    FGF14 99.99 1
    FITM2 99.99 1
    FLRT1 100.00 1
    FLVCR1 99.91 1
    FOLR1 100.00 1
    FRMD4A 100.00 1
    FRMD7 99.97 1
    GALC 99.92 1
    GAN 99.98 1
    GBA2 99.99 1
    GBE1 99.73 1
    GDAP2 95.02 1
    GFAP 99.99 1
    GFM2 99.87 1
    GJC2 100.00 1
    GLB1 100.00 1
    GLRX5 100.00 1
    GLS 99.78 1
    GM2A 100.00 1
    GOSR2 98.92 1
    GPR143 99.60 1
    GRID2 99.97 1
    GRIN1 100.00 1
    GRM1 100.00 1
    GRN 100.00 1
    GSX2 100.00 1
    HACE1 99.76 1
    HEXA 99.99 1
    HEXB 99.91 1
    HSD17B10 99.98 1
    HSD17B4 99.71 1
    HSPD1 83.42 1
    IBA57 100.00 1
    IFIH1 99.84 1
    IFRD1 99.67 1
    IFT140 100.00 1
    INTS8 99.89 1
    IRF2BPL 99.21 1
    ISCA1 99.79 1
    ITM2B 99.85 1
    ITPR1 99.98 1
    JAM2 91.82 1
    KANK1 99.99 1
    KCNA1 100.00 1
    KCNA2 99.99 1
    KCNA4 100.00 1
    KCNC3 99.98 1
    KCND3 99.98 1
    KCNJ10 99.98 1
    KCNJ6 100.00 1
    KCNMA1 99.89 1
    KCNQ2 100.00 1
    KCTD7 99.98 1
    KIDINS220 99.94 1
    KIF1A 99.96 1
    KIF1C 99.99 1
    KIF5A 99.91 1
    KLC2 100.00 1
    L1CAM 99.98 1
    L2HGDH 99.92 1
    LAMA1 99.98 1
    LAMB1 99.87 1
    LIPT2 99.99 1
    LYRM7 99.98 1
    LYST 99.87 1
    ERCC2 99.99 1
    MAN2B1 99.99 1
    MARS1 99.97 1
    MARS2 100.00 1
    MCOLN1 100.00 1
    MECP2 99.95 1
    MLC1 99.99 1
    MMADHC 99.76 1
    MME 97.17 1
    MPV17 99.98 1
    MRE11 99.93 1
    MRPS34 100.00 1
    MSTO1 76.34 1
    MTCL1 100.00 1
    MTPAP 99.97 1
    MTRFR 99.87 1
    MTTP 99.92 1
    MYORG 99.99 1
    NANS 100.00 1
    NDUFA9 100.00 1
    NDUFAF4 99.95 1
    NDUFAF6 99.86 1
    NDUFS1 99.79 1
    NDUFS3 100.00 1
    NDUFS7 99.99 1
    NEFL 100.00 1
    NEU1 99.98 1
    NEXMIF 99.99 1
    NF2 100.00 1
    NHLRC1 100.00 1
    NIPA1 99.91 1
    NKX6-2 100.00 1
    NOL3 100.00 1
    NPC1 99.99 1
    NPC2 100.00 1
    NT5C2 99.96 1
    NTNG2 99.98 1
    NUP93 99.87 1
    NUS1 99.90 1
    OCLN 82.91 1
    OFD1 99.68 1
    MED12 99.95 1
    OPA3 100.00 1
    OPHN1 99.92 1
    OTC 99.42 1
    PARS2 99.99 1
    PODXL 99.99 1
    PCDH12 100.00 1
    PCYT2 100.00 1
    PDHA1 99.04 1
    PDHX 99.64 1
    PDYN 100.00 1
    PEX10 100.00 1
    PEX16 99.94 1
    PEX7 99.72 1
    PGAP1 99.56 1
    PHYH 100.00 1
    PIK3R5 99.99 1
    PLA2G6 99.98 1
    PLAA 99.79 1
    PLD3 99.99 1
    PLP1 99.98 1
    PMM2 99.93 1
    PMPCA 99.99 1
    PMPCB 99.94 1
    PNKP 100.00 1
    PNPLA6 99.99 1
    POLG 100.00 1
    POLR3A 99.97 1
    POLR3B 99.94 1
    PRF1 100.00 1
    PRKCG 99.99 1
    PRNP 100.00 1
    PRPS1 99.95 1
    PRRT2 99.97 1
    PSAP 99.94 1
    PSEN1 100.00 1
    PTPN23 100.00 1
    PTRH2 99.99 1
    PUM1 98.14 1
    RAB11B 100.00 1
    RAB18 99.76 1
    RAB3GAP1 99.73 1
    RAB3GAP2 99.69 1
    REEP1 99.97 1
    REEP2 99.99 1
    RETREG1 99.99 1
    RNASEH2A 99.95 1
    RNASEH2B 99.94 1
    RNASEH2C 99.99 1
    RNF168 99.97 1
    RNF170 99.90 1
    RNF216 99.99 1
    RORA 99.97 1
    RPGRIP1L 96.35 1
    RTN2 99.98 1
    RTN4IP1 99.98 1
    RUBCN 100.00 1
    SACS 99.97 1
    SAMD9L 99.95 1
    SAMHD1 99.98 1
    SARS1 98.53 1
    SCN8A 99.77 1
    SCYL1 100.00 1
    SDHA 99.98 1
    SDHAF1 99.99 1
    SDHD 82.93 1
    SEPSECS 99.78 1
    SETX 99.97 1
    SIL1 99.95 1
    SLC13A5 99.99 1
    SLC16A2 99.97 1
    SLC17A5 99.71 1
    SLC19A3 99.95 1
    SLC1A3 99.98 1
    SLC1A4 99.97 1
    SLC25A15 100.00 1
    SLC25A46 99.88 1
    SLC2A1 99.93 1
    SLC33A1 99.67 1
    SLC44A1 99.90 1
    SLC52A2 100.00 1
    SLC52A3 99.94 1
    SLC6A8 99.99 1
    SLC9A1 99.96 1
    SLC9A6 99.42 1
    SMPD1 100.00 1
    SNAP25 99.89 1
    SNX14 99.73 1
    SOX10 100.00 1
    SPART 99.98 1
    SPAST 99.77 1
    SPG11 99.89 1
    SPG21 99.97 1
    SPG7 99.99 1
    SPR 99.99 1
    SPTAN1 99.96 1
    SPTBN2 99.98 1
    SQSTM1 100.00 1
    SRD5A3 99.94 1
    STUB1 99.99 1
    SUCLA2 99.96 1
    SUOX 100.00 1
    SURF1 100.00 1
    SVBP 99.04 1
    SYNE1 99.95 1
    SYT14 99.94 1
    TANGO2 99.85 1
    TBC1D20 100.00 1
    TDP1 99.97 1
    TDP2 99.97 1
    TECPR2 99.96 1
    TENM3 99.99 1
    TFG 98.68 1
    TGM6 99.99 1
    THG1L 99.99 1
    TMEM216 99.98 1
    TMEM231 88.88 1
    TMEM240 99.99 1
    TMEM67 99.69 1
    TMX2 99.99 1
    ACD 99.99 1
    TRAK1 99.98 1
    TRAPPC12 99.96 1
    TRAPPC4 100.00 1
    TRIT1 99.25 1
    TRPC3 99.97 1
    TSEN2 99.98 1
    TSEN54 100.00 1
    TTBK2 99.93 1
    TTC19 99.99 1
    TTPA 99.88 1
    TUBA1A 99.97 1
    TUBB4A 100.00 1
    TUBG1 99.95 1
    TWNK 100.00 1
    UBA5 99.95 1
    UBAP1 99.51 1
    UBTF 99.99 1
    UCHL1 99.99 1
    UFC1 99.35 1
    UFM1 99.25 1
    UGP2 99.85 1
    USP8 99.67 1
    VAMP1 100.00 1
    VCP 99.99 1
    VLDLR 99.99 1
    VPS13B 99.90 1
    VPS13D 99.96 1
    VPS37A 99.96 1
    VRK1 99.98 1
    VWA3B 98.82 1
    WARS2 97.72 1
    WASHC5 99.98 1
    WDR45B 100.00 1
    WDR48 99.42 1
    WDR73 99.92 1
    WDR81 100.00 1
    WWOX 100.00 1
    XRCC1 99.96 1
    ZC4H2 99.98 1
    ZFR 99.94 1
    ZFYVE26 100.00 1
    ZFYVE27 99.99 1
  • Bethlem myopathy / Ullrich / Myosclerosis Myopathy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    COL6A1 100.00 1
    COL12A1 100.00 1
    COL6A2 100.00 1
    COL6A3 100.00 1
  • Bicuspid aortic valve - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SMAD6 100.00 1
    NOTCH1 100.00 1
    NKX2-5 100.00 1
    GATA5 100.00 1
    ROBO4 100.00 1
  • Breast and ovarian cancer - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATM 100.00 1
    BARD1 100.00 1
    BRCA1 100.00 1
    BRCA2 100.00 1
    BRIP1 100.00 1
    CHEK2 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    PALB2 100.00 1
    RAD51C 100.00 1
    RAD51D 100.00 1
    TP53 100.00 1
  • Cataract - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD12 99.98 1
    ADAMTSL4 99.66 1
    AGK 99.99 1
    ALDH18A1 99.96 1
    B3GLCT 99.90 1
    BCOR 99.97 1
    BEST1 99.86 1
    BFSP1 100.00 1
    BFSP2 99.09 1
    CHMP4B 99.96 1
    COL11A1 90.72 1
    COL18A1 99.99 1
    COL2A1 99.87 1
    CRYAA 19.49 1
    CRYAB 100.00 1
    CRYBA1 99.99 1
    CRYBA2 100.00 1
    CRYBA4 100.00 1
    CRYBB1 99.46 1
    CRYBB2 99.94 1
    CRYBB3 99.99 1
    CRYGB 99.99 1
    CRYGC 100.00 1
    CRYGD 100.00 1
    CRYGS 100.00 1
    CTDP1 99.97 1
    CYP27A1 100.00 1
    CYP51A1 97.82 1
    DNMBP 99.94 1
    EPG5 99.95 1
    EPHA2 99.99 1
    EYA1 99.81 1
    FAM126A 99.81 1
    FBN1 99.85 1
    FOXE3 99.29 1
    FTL 99.99 1
    FYCO1 100.00 1
    FZD4 100.00 1
    GALK1 100.00 1
    GALT 100.00 1
    GCNT2 100.00 1
    GJA1 100.00 1
    GJA3 100.00 1
    GJA8 99.99 1
    HMX1 100.00 1
    HSF4 99.98 1
    INPP5K 99.94 1
    INTS1 100.00 1
    JAM3 100.00 1
    LCAT 99.97 1
    LEMD2 100.00 1
    LIM2 100.00 1
    LSS 99.98 1
    MAF 99.73 1
    MIPEP 99.98 1
    MIR184 100.00 1
    MYH9 99.95 1
    NDP 99.98 1
    NF2 100.00 1
    NHS 99.96 1
    OCRL 99.89 1
    OPA3 100.00 1
    P3H2 99.93 1
    PANK4 100.00 1
    PAX6 99.95 1
    PITX3 100.00 1
    PXDN 100.00 1
    RRAGA 100.00 1
    SIL1 99.95 1
    SIPA1L3 99.97 1
    SLC16A12 100.00 1
    SLC33A1 99.67 1
    TDRD7 99.87 1
    UNC45B 100.00 1
    VIM 100.00 1
    VSX2 99.99 1
    WFS1 99.99 1
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CASQ2 100.00 1
    RYR2 100.00 1
    TRDN 100.00 1
    TECRL 100.00 1
    CALM1 100.00 1
    CALM2 100.00 1
    CALM3 100.00 1
  • Ciliopathy (120 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACVR2B 99.99 0
    ADAMTS9 99.94 0
    AHI1 99.86 0
    ALMS1 99.90 0
    ANKS6 100.00 0
    ARL13B 99.53 0
    ARL3 99.98 0
    ARL6 99.90 0
    ARMC9 99.77 0
    B9D1 99.80 0
    B9D2 99.88 0
    BBIP1 99.99 0
    BBS1 100.00 0
    BBS10 99.98 0
    BBS12 100.00 0
    BBS2 99.90 0
    BBS4 99.88 0
    BBS5 99.00 0
    BBS7 99.42 0
    BBS9 99.75 0
    C2CD3 99.88 0
    CBY1 100.00 0
    CC2D2A 99.95 0
    CCDC103 99.68 0
    CCDC172 99.85 0
    CCDC28B 99.99 0
    CCDC32 99.97 0
    CCDC39 99.74 0
    CCDC40 100.00 0
    CCDC65 99.80 0
    CCDC96 100.00 0
    CCNO 100.00 0
    CENPF 99.97 0
    CEP104 99.99 0
    CEP120 99.90 0
    CEP164 99.99 0
    CEP290 98.10 0
    CEP295 99.94 0
    CEP41 99.99 0
    CEP55 99.92 0
    CEP83 98.68 0
    CFAP251 99.98 0
    CFAP298 99.96 0
    CFAP300 99.47 0
    CFAP410 100.00 0
    CFAP418 100.00 0
    CFAP44 99.75 0
    CFAP53 99.95 0
    CFAP69 99.09 0
    CFC1 21.93 0
    CILK1 99.69 0
    CPLANE1 99.81 0
    CRB2 99.95 0
    CSPP1 98.31 0
    DCDC2 99.96 0
    DDX59 99.67 0
    DEUP1 99.86 0
    DHCR7 99.97 0
    DLG5 99.91 0
    DNAAF1 99.99 0
    DNAAF11 99.80 0
    DNAAF2 99.91 0
    DNAAF3 99.99 0
    DNAAF4 99.78 0
    DNAAF5 99.99 0
    DNAAF6 98.73 0
    DNAH1 99.98 0
    DNAH11 99.93 0
    DNAH5 99.98 0
    DNAH8 99.84 0
    DNAI1 99.92 0
    DNAI2 99.86 0
    DNAJB13 99.91 0
    DNAH9 99.79 0
    DRC1 99.93 0
    DYNC2H1 99.66 0
    DYNC2I1 99.99 0
    DYNC2I2 99.98 0
    DYNC2LI1 99.94 0
    DYNLT2B 100.00 0
    EVC 99.95 0
    EVC2 99.97 0
    EXOC3L2 99.88 0
    EXOC6B 99.41 0
    EXOC8 99.99 0
    EXTL3 99.99 0
    FAM149B1 99.69 0
    FAM166B 99.99 0
    FOXF1 99.99 0
    FUZ 99.99 0
    GAS2L2 100.00 0
    GAS8 100.00 0
    GLI3 100.00 0
    GLIS2 100.00 0
    HNF1B 100.00 0
    HYDIN 81.28 0
    HYLS1 100.00 0
    IFT122 99.98 0
    IFT140 100.00 0
    IFT172 99.98 0
    IFT27 100.00 0
    IFT43 99.97 0
    IFT52 99.82 0
    IFT74 99.71 0
    IFT80 99.69 0
    IFT81 94.64 0
    INPP5E 99.85 0
    INTS13 98.20 0
    INTU 99.92 0
    INVS 99.94 0
    IQCB1 99.72 0
    IQCE 99.77 0
    KATNIP 99.13 0
    KCTD3 99.75 0
    KIAA0586 95.75 0
    KIAA0753 100.00 0
    KIF14 97.80 0
    KIF3B 99.99 0
    KIF7 100.00 0
    LBR 99.66 0
    LCA5 99.89 0
    LRRC34 99.52 0
    LRRC45 99.98 0
    LRRC56 99.98 0
    LZTFL1 100.00 0
    MAPKBP1 99.98 0
    MCIDAS 100.00 0
    MKKS 100.00 0
    MKS1 99.92 0
    MMP21 99.99 0
    MRE11 99.93 0
    NCAPG2 99.97 0
    NEK1 99.83 0
    NEK9 99.96 0
    NME5 99.81 0
    NME8 99.83 0
    NPHP1 99.05 0
    NPHP3 99.89 0
    NPHP4 99.98 0
    OCRL 99.89 0
    ODAD1 96.04 0
    ODAD2 98.19 0
    ODAD3 99.96 0
    ODAD4 99.85 0
    OFD1 99.68 0
    PDE6D 99.94 0
    PIBF1 99.90 0
    PIK3C2A 99.92 0
    PKD1 99.98 0
    PKD2 99.91 0
    PKHD1 99.95 0
    PMFBP1 99.89 0
    PMM2 99.93 0
    POC1A 99.98 0
    POC1B 100.00 0
    RAB28 99.97 0
    RPGR 94.45 0
    RPGRIP1L 96.35 0
    RSPH1 99.87 0
    RSPH3 99.94 0
    RSPH4A 99.95 0
    RSPH9 99.99 0
    SBDS 99.93 0
    SCLT1 95.17 0
    SCNM1 99.47 0
    SDCCAG8 100.00 0
    SLC30A7 94.71 0
    SPAG1 99.78 0
    STK36 99.98 0
    SUFU 100.00 0
    TBC1D32 99.75 0
    TCTN1 99.92 0
    TCTN2 99.99 0
    TCTN3 99.92 0
    TMEM107 100.00 0
    TMEM138 100.00 0
    TMEM17 99.96 0
    TMEM216 99.98 0
    TMEM218 99.94 0
    TMEM231 88.88 0
    TMEM237 99.30 0
    TMEM260 99.90 0
    TMEM67 99.69 0
    TOGARAM1 99.93 0
    TOPORS 99.99 0
    TRAF3IP1 99.96 0
    TRIM32 100.00 0
    TTC21B 99.50 0
    TTC23 99.87 0
    TTC26 99.97 0
    TTC6 99.77 0
    TTC8 99.67 0
    TUBGCP4 99.80 0
    TULP1 99.99 0
    TULP3 99.91 0
    TXNDC15 99.78 0
    VHL 100.00 0
    VPS13B 99.90 0
    WDPCP 99.87 0
    WDR19 99.80 0
    WDR35 99.92 0
    XPNPEP3 99.99 0
    ZFYVE19 99.99 0
    ZIC3 99.90 0
    ZMYND10 99.99 0
    ZNF423 98.94 0
    ZSWIM6 98.94 0
  • Congenital structural heart defects - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AATK 99.98 1
    ABL1 100.00 1
    ACAN 91.51 1
    ACTA1 99.99 1
    ACTB 100.00 1
    ACTC1 98.57 1
    ACTG1 100.00 1
    ACTN2 99.99 1
    ACVR1 99.94 1
    ACVR1B 99.99 1
    ACVR2A 99.15 1
    ACVR2B 99.99 1
    ACVRL1 99.88 1
    ADAMTS10 99.99 1
    ADNP 100.00 1
    AKAP12 100.00 1
    AKT1 100.00 1
    AKT2 99.85 1
    ALDH1A2 99.97 1
    ALX3 99.74 1
    ANKRD1 99.57 1
    ANKRD11 99.85 1
    AP1B1 99.99 1
    APAF1 98.70 1
    AR 99.76 1
    ARHGAP31 100.00 1
    ARID4A 99.90 1
    ATP2A2 99.98 1
    ATRX 99.44 1
    AXIN1 100.00 1
    BCOR 99.97 1
    BMP10 99.96 1
    BMP2 99.79 1
    BMP4 100.00 1
    BMP6 100.00 1
    BMP7 100.00 1
    BMPR1A 99.58 1
    BMPR2 99.95 1
    BRAF 99.78 1
    BRIP1 99.39 1
    BVES 99.83 1
    CASQ2 94.39 1
    CAV1 99.97 1
    CAV3 100.00 1
    CBL 99.95 1
    CCDC103 99.68 1
    CCDC39 99.74 1
    CCDC40 100.00 1
    CCDC65 99.80 1
    CCN1 99.99 1
    CCNO 100.00 1
    CD96 99.91 1
    CDK13 99.83 1
    CDK4 100.00 1
    CDX2 100.00 1
    CENPF 99.97 1
    CFAP53 99.95 1
    CFC1 21.93 1
    CHAC2 99.68 1
    CHD4 99.99 1
    CHD7 99.99 1
    CHD8 99.96 1
    CITED2 100.00 1
    COL1A1 99.90 1
    COL1A2 99.34 1
    COL2A1 99.87 1
    COX7B 99.86 1
    CREBBP 99.97 1
    CRELD1 99.99 1
    CRIP2 99.99 1
    CRYAB 100.00 1
    CSNK1D 99.99 1
    CSRP1 99.75 1
    CSRP3 100.00 1
    CTNNB1 99.95 1
    DDX3X 99.01 1
    DES 100.00 1
    DIAPH3 99.85 1
    DICER1 99.96 1
    DLGAP5 99.83 1
    DLL1 99.99 1
    DLL4 100.00 1
    DNAAF1 99.99 1
    DNAAF11 99.80 1
    DNAAF2 99.91 1
    DNAAF3 99.99 1
    DNAAF4 99.78 1
    DNAAF5 99.99 1
    DNAH11 99.93 1
    DNAH5 99.98 1
    DNAI1 99.92 1
    DNAI2 99.86 1
    DNAJB13 99.91 1
    DNAH9 99.79 1
    DRC1 99.93 1
    DSCAM 99.99 1
    DVL1 100.00 1
    DYRK1A 99.98 1
    E2F1 99.99 1
    ECE1 99.92 1
    EDNRA 99.97 1
    EFEMP2 99.94 1
    EFNB1 99.95 1
    EFTUD2 99.93 1
    EGFR 99.68 1
    EGR1 99.99 1
    EHMT1 98.38 1
    ELN 99.86 1
    ENG 100.00 1
    EOGT 99.09 1
    EP300 99.97 1
    EPHB2 99.86 1
    EPHB4 99.82 1
    ERBB2 99.98 1
    ERCC4 99.92 1
    ESR2 99.96 1
    ETS1 99.99 1
    EVC 99.95 1
    EVC2 99.97 1
    EWSR1 99.94 1
    EZH2 99.89 1
    F2R 99.98 1
    FABP3 99.87 1
    FADD 99.97 1
    FANCA 100.00 1
    FANCB 99.24 1
    FANCC 99.98 1
    FANCD2 99.86 1
    FANCE 99.99 1
    FANCF 100.00 1
    FANCG 100.00 1
    FANCI 99.96 1
    FANCL 99.67 1
    FBLN1 98.69 1
    FBLN7 99.95 1
    FBN1 99.85 1
    FBN2 99.90 1
    FGF10 99.95 1
    FGF8 100.00 1
    FGFR1 100.00 1
    FGFR2 99.99 1
    FGFR3 100.00 1
    FHL2 100.00 1
    FIBP 99.83 1
    FLII 100.00 1
    FLNA 99.99 1
    FLNC 99.99 1
    FLT1 99.99 1
    FLT4 97.93 1
    FN1 99.95 1
    FOXC1 100.00 1
    FOXC2 100.00 1
    FOXH1 100.00 1
    FOXK2 99.76 1
    FOXL1 100.00 1
    FOXL2 99.97 1
    FOXO1 100.00 1
    FOXP1 99.98 1
    FSCN2 100.00 1
    G6PC3 99.98 1
    GAS8 100.00 1
    GATA2 99.99 1
    GATA4 99.99 1
    GATA5 100.00 1
    GATA6 99.90 1
    GATAD2B 99.44 1
    GDF1 100.00 1
    GDF11 99.97 1
    GDF5 100.00 1
    GDNF 99.99 1
    GJA1 100.00 1
    GJA5 100.00 1
    GJD2 99.99 1
    GLB1 100.00 1
    GLI2 99.93 1
    GLI3 100.00 1
    GPC3 99.60 1
    GPC5 99.96 1
    GPC6 99.98 1
    GRK5 99.97 1
    GTF2I 47.18 1
    GTF2IRD1 99.77 1
    HAND1 99.99 1
    HAND2 99.97 1
    HDAC8 99.74 1
    HES4 100.00 1
    HEY2 99.75 1
    HIF1A 99.87 1
    HMGB2 99.99 1
    HNF1A 100.00 1
    HNF4A 100.00 1
    HOXA1 100.00 1
    HOXB2 99.99 1
    HRAS 100.00 1
    HSPB1 99.97 1
    HSPB8 100.00 1
    HSPG2 99.87 1
    HYDIN 81.28 1
    ID2 100.00 1
    IGF1R 100.00 1
    IGFBP4 99.85 1
    IKBKB 99.93 1
    ILK 100.00 1
    INHBA 99.98 1
    INHBC 99.99 1
    INPP5D 99.98 1
    INSR 99.99 1
    IRS1 100.00 1
    IRX4 99.99 1
    ISL1 99.99 1
    ITGAV 99.40 1
    ITGB1 99.96 1
    ITGB3 99.83 1
    ITGB4 99.99 1
    JAG1 100.00 1
    JAM3 100.00 1
    JUN 100.00 1
    KANSL1 99.85 1
    KAT6A 99.93 1
    KAT6B 99.79 1
    KDM3B 99.98 1
    KDM5A 99.90 1
    KDM5B 97.15 1
    KDM6A 99.74 1
    KDR 99.86 1
    KIT 99.86 1
    KMT2D 99.98 1
    KRAS 99.13 1
    KREMEN1 99.88 1
    LAMA2 99.95 1
    LAMA5 99.99 1
    LAMC1 99.55 1
    LBR 99.66 1
    LEFTY1 99.98 1
    LEFTY2 100.00 1
    LHX3 99.99 1
    LMNA 99.96 1
    LMX1B 100.00 1
    LRP2 99.86 1
    LTBP1 99.95 1
    LTBP3 99.96 1
    LZTR1 99.46 1
    MAFG 100.00 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAPK14 99.95 1
    MCTP2 99.99 1
    MECOM 99.97 1
    MED13L 99.99 1
    MEF2C 99.57 1
    MEGF8 99.90 1
    MESP1 100.00 1
    MET 99.97 1
    METTL3 99.98 1
    MGP 99.95 1
    MID1 99.90 1
    MITF 99.98 1
    MMP2 99.96 1
    MMP21 99.99 1
    MSX1 100.00 1
    MTHFD1 100.00 1
    MTHFR 99.97 1
    MTRR 99.98 1
    MYBPC3 99.98 1
    MYC 100.00 1
    MYH10 99.91 1
    MYH11 99.16 1
    MYH6 100.00 1
    MYH7 99.99 1
    MYH9 99.95 1
    MYL2 99.99 1
    MYL3 99.99 1
    MYL7 99.95 1
    MYOCD 99.99 1
    MYOM1 99.98 1
    MYOZ2 99.99 1
    NF1 99.88 1
    NFATC1 100.00 1
    NFIX 99.99 1
    NFKB1 99.80 1
    NID2 99.97 1
    NIPBL 99.34 1
    NKX2-1 100.00 1
    NKX2-5 99.75 1
    NKX2-6 100.00 1
    NME8 99.83 1
    NNMT 100.00 1
    NODAL 99.98 1
    NONO 99.94 1
    NOS3 93.73 1
    NOTCH1 99.98 1
    NOTCH2 99.03 1
    NOTCH3 99.99 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NPPA 100.00 1
    NR2F2 100.00 1
    NR4A2 99.97 1
    NRAS 99.66 1
    NRP1 99.99 1
    NRP2 99.98 1
    NSD1 99.98 1
    ODAD1 96.04 1
    ODAD2 98.19 1
    ODAD3 99.96 1
    ODAD4 99.85 1
    OTX2 100.00 1
    PACS1 99.96 1
    PAX3 100.00 1
    PCSK5 99.97 1
    PDGFC 99.97 1
    PDGFRA 99.94 1
    PDGFRB 99.99 1
    PDHX 100.00 1
    PIGA 99.81 1
    PIGL 99.98 1
    PIGN 99.91 1
    PIGT 99.95 1
    PITX2 99.98 1
    PKD1L1 99.84 1
    PLAGL1 99.96 1
    PLAT 99.99 1
    POU5F1 100.00 1
    PPARG 99.96 1
    PPARGC1A 99.82 1
    PPP3CA 99.84 1
    PRKACA 99.95 1
    PRKD1 99.96 1
    PROX1 99.98 1
    PRRX1 99.56 1
    PSEN1 100.00 1
    PSEN2 99.97 1
    PTEN 99.89 1
    PTK2 99.97 1
    PTP4A3 99.99 1
    PTPN11 99.98 1
    PUF60 100.00 1
    RAB23 99.97 1
    RAD21 99.91 1
    RAD51C 99.02 1
    RAF1 99.97 1
    RAI1 99.22 1
    RAI2 99.98 1
    RARB 99.99 1
    RARG 99.98 1
    RB1 99.84 1
    RBBP7 99.87 1
    RBL2 99.44 1
    RBM10 99.98 1
    RBM8A 99.37 1
    RELA 99.99 1
    RERE 99.94 1
    RET 99.97 1
    RGS19 99.88 1
    RIT1 99.78 1
    RNF20 99.93 1
    ROR2 99.99 1
    RPGR 94.45 1
    RPL11 99.81 1
    RPL15 31.77 1
    RPL26 30.55 1
    RPL35A 97.55 1
    RPL5 28.81 1
    RPS10 0.00 1
    RPS17 100.00 1
    RPS19 100.00 1
    RPS24 91.48 1
    RPS26 8.99 1
    RPS28 100.00 1
    RPS29 99.96 1
    RPS7 88.50 1
    RSPH1 99.87 1
    RSPH3 99.94 1
    RSPH4A 99.95 1
    RSPH9 99.99 1
    RYR2 99.94 1
    SALL1 100.00 1
    SALL4 100.00 1
    SCN5A 100.00 1
    SESN1 99.95 1
    SF3B4 99.65 1
    SGCA 100.00 1
    SH3PXD2B 100.00 1
    SHH 100.00 1
    SHOC2 99.96 1
    HHAT 99.98 1
    SLC19A1 99.99 1
    SLC25A4 100.00 1
    SLC2A10 100.00 1
    SLX4 100.00 1
    SMAD2 99.92 1
    SMAD3 99.99 1
    SMAD4 99.97 1
    SMAD6 100.00 1
    SMARCE1 99.87 1
    SMC1A 99.98 1
    SMC3 99.91 1
    SMG9 99.99 1
    SOS1 99.68 1
    SOS2 99.39 1
    SOX2 100.00 1
    SOX4 99.36 1
    SP1 99.98 1
    SPAG1 99.78 1
    SPATC1L 99.99 1
    SPECC1L 99.98 1
    SRCAP 99.99 1
    SRF 99.99 1
    STAT3 99.97 1
    STRA6 99.95 1
    SUZ12 98.58 1
    TAB2 99.75 1
    TBX1 99.95 1
    TBX2 99.97 1
    TBX20 99.99 1
    TBX3 100.00 1
    TBX5 99.98 1
    TBX6 99.99 1
    TCAP 100.00 1
    TCF21 100.00 1
    TCF3 100.00 1
    TCN2 100.00 1
    TDGF1 99.82 1
    TEAD1 99.97 1
    TEK 99.98 1
    TFAP2A 100.00 1
    TFAP2B 99.98 1
    TFAP2C 100.00 1
    TGFB1 100.00 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TGIF1 100.00 1
    THBS1 100.00 1
    THBS4 100.00 1
    THOC5 99.90 1
    THRB 99.82 1
    DDR2 97.39 1
    TLL1 99.94 1
    TNFRSF11A 100.00 1
    TNFRSF1A 100.00 1
    TNNI3 100.00 1
    TNNT2 99.87 1
    TNR 99.80 1
    TP53 99.98 1
    TP73 100.00 1
    TPM1 99.92 1
    TRPM2 99.99 1
    TSR2 99.96 1
    TTN 99.15 1
    TWIST1 100.00 1
    UBE2B 99.94 1
    UBE2T 99.89 1
    USP44 99.86 1
    USP9X 99.84 1
    VCAN 99.99 1
    VDR 99.86 1
    VEGFA 99.99 1
    VEGFC 99.96 1
    WASHC5 99.98 1
    WDR5 100.00 1
    WNT11 100.00 1
    WT1 99.99 1
    YY1 100.00 1
    ZEB2 99.97 1
    ZFHX3 99.96 1
    ZFPM2 100.00 1
    ZIC3 99.90 1
    ZMYND10 99.99 1
  • Corneal dystrophy
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AGBL1 99.99 1
    CHRDL1 99.94 1
    CHST6 100.00 1
    COL17A1 99.98 1
    COL3A1 99.87 1
    COL5A1 99.99 1
    COL8A2 99.94 1
    CYP4V2 99.98 1
    DCN 99.42 1
    GRHL2 100.00 1
    GSN 99.93 1
    KERA 99.95 1
    KRT12 99.92 1
    KRT3 99.89 1
    LCAT 99.97 1
    LOXHD1 99.99 1
    NLRP1 95.26 1
    NLRP3 100.00 1
    OVOL2 100.00 1
    PAX6 99.95 1
    PIKFYVE 99.81 1
    PITX2 99.98 1
    PRDM5 99.76 1
    SLC4A11 100.00 1
    SOD1 99.97 1
    STS 99.81 1
    TACSTD2 100.00 1
    TCF4 98.56 1
    TGFBI 99.89 1
    UBIAD1 99.98 1
    VSX1 99.93 1
    ZEB1 100.00 1
    ZNF469 100.00 1
  • Cutis Laxa / Geroderma osteodysplasticum - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALDH18A1 100.00 1
    ATP6V0A2 100.00 1
    ATP7A 100.00 1
    COG7 100.00 1
    EFEMP2 100.00 1
    ELN 100.00 1
    FBLN5 100.00 1
    GORAB 100.00 1
    LTBP4 100.00 1
    NAA10 100.00 1
    PYCR1 100.00 1
    RIN2 100.00 1
    TALDO1 100.00 1
    ATP6V1A 100.00 1
    ATP6V1E1 100.00 1
    EFEMP1 100.00 1
    LOX 100.00 1
    LTBP1 100.00 1
  • Dilated cardiomyopathy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LMNA 100.00 1
    TTN 100.00 1
    ACTC1 100.00 1
    BAG3 100.00 1
    DES 100.00 1
    DSP 100.00 1
    FLNC 100.00 1
    JPH2 100.00 1
    MYH7 100.00 1
    NEXN 100.00 1
    RBM20 100.00 1
    SCN5A 100.00 1
    TNNI3 100.00 1
    TNNC1 100.00 1
    TNNT2 100.00 1
    TPM1 100.00 1
    VCL 100.00 1
  • Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS2 99.98 1
    AKR1C2 91.19 1
    AKR1C4 100.00 1
    AMH 100.00 1
    AMHR2 99.96 1
    ANOS1 99.96 1
    AR 99.76 1
    ARX 95.36 1
    ATRX 99.44 1
    AXL 99.97 1
    BMP15 99.98 1
    BMP4 100.00 1
    BNC1 100.00 1
    CBX2 100.00 1
    CHD7 99.99 1
    CLPP 99.99 1
    CREBBP 99.97 1
    CYB5A 99.98 1
    CYP11A1 99.99 1
    CYP11B1 100.00 1
    CYP17A1 100.00 1
    CYP19A1 99.99 1
    CYP21A2 99.85 1
    DHCR7 99.97 1
    DHH 100.00 1
    DHX37 99.98 1
    DMRT1 99.99 1
    DMXL2 99.86 1
    DUSP6 99.99 1
    EIF4ENIF1 100.00 1
    EP300 99.97 1
    ESR1 100.00 1
    ESR2 99.96 1
    FANCM 99.83 1
    FEZF1 100.00 1
    FGF17 99.81 1
    FGF8 100.00 1
    FGF9 100.00 1
    FGFR1 100.00 1
    FGFR2 99.99 1
    FIGLA 99.95 1
    FLRT3 100.00 1
    FOXL2 99.97 1
    FSHB 100.00 1
    FSHR 99.99 1
    GATA4 99.99 1
    GDF9 99.98 1
    GNRH1 99.96 1
    GNRHR 99.94 1
    HDAC8 99.74 1
    HESX1 99.77 1
    HFM1 89.74 1
    HHAT 99.93 1
    HOXA13 99.94 1
    HS6ST1 99.99 1
    HSD17B3 99.77 1
    HSD17B4 99.71 1
    HSD3B2 100.00 1
    IL17RD 99.94 1
    INSL3 98.02 1
    KHDRBS1 99.35 1
    KISS1 99.97 1
    KISS1R 100.00 1
    LARS2 99.96 1
    LEP 100.00 1
    LEPR 92.52 1
    LHB 99.93 1
    LHCGR 99.94 1
    LHX1 99.96 1
    LHX3 99.99 1
    LHX4 99.99 1
    MAMLD1 99.84 1
    MAP3K1 99.93 1
    MCM8 98.78 1
    MCM9 99.76 1
    MEIOB 99.98 1
    MID1 99.90 1
    MRPS22 99.87 1
    MSH4 89.29 1
    MSH5 100.00 1
    NANOS3 100.00 1
    NBN 99.93 1
    NOBOX 99.95 1
    NR0B1 99.98 1
    NR2F2 100.00 1
    NR5A1 99.92 1
    NSMF 100.00 1
    NUP107 97.46 1
    OTUD4 99.83 1
    PATL2 99.99 1
    PCSK1 99.99 1
    PNPLA6 99.99 1
    POF1B 99.34 1
    POLR2C 99.99 1
    POLR3A 99.97 1
    PORCN 99.98 1
    PROK2 98.65 1
    PROKR2 100.00 1
    PROP1 99.88 1
    PSMC3IP 99.82 1
    RNF216 99.99 1
    RSPO1 99.99 1
    RXFP2 99.99 1
    SEMA3A 99.42 1
    SEMA7A 99.90 1
    SOHLH1 100.00 1
    SOHLH2 100.00 1
    SOX10 100.00 1
    SOX2 100.00 1
    SOX3 100.00 1
    SOX8 99.99 1
    SOX9 100.00 1
    SPIDR 99.96 1
    SPRY4 100.00 1
    SRD5A2 100.00 1
    SRY 51.98 1
    STAG3 98.99 1
    GUCY2C 99.97 1
    SYCE1 99.99 1
    TAC3 99.94 1
    TACR3 99.99 1
    TP63 99.97 1
    TSPYL1 100.00 1
    TWNK 100.00 1
    WDR11 99.91 1
    WNT4 99.94 1
    WT1 99.99 1
    WWOX 100.00 1
    ZFPM2 100.00 1
    ZNRF3 99.94 1
  • Ectrodactyly / cleft lip/palate / Ectodermal dysplasia - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AXIN2 100.00 1
    EDA 100.00 1
    WNT10A 100.00 1
    PAX9 100.00 1
    MSX1 100.00 1
    WNT10B 100.00 1
    EDAR 100.00 1
    EDARADD 100.00 1
    LRP6 100.00 1
    TP63 100.00 1
    GREM2 100.00 1
  • Ehlers-Danlos syndrome -UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS2 100.00 1
    AEBP1 100.00 1
    B3GALT6 100.00 1
    B3GAT3 100.00 1
    B4GALT7 100.00 1
    C1R 100.00 1
    C1S 100.00 1
    CHST14 100.00 1
    COL12A1 100.00 1
    COL1A1 100.00 1
    COL1A2 100.00 1
    COL3A1 100.00 1
    COL5A1 100.00 1
    COL5A2 100.00 1
    DSE 100.00 1
    FKBP14 100.00 1
    PLOD1 100.00 1
    PRDM5 100.00 1
    RIN2 100.00 1
    SLC39A13 100.00 1
    XYLT1 100.00 1
    XYLT2 100.00 1
    ZNF469 100.00 1
    FLNA 100.00 1
    FLNB 100.00 1
    TAB2 100.00 1
  • Exudative Vitreoretinopathy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    FZD4 100.00 1
    TSPAN12 100.00 0
    LRP5 100.00 1
    NDP 100.00 1
  • Familial Thoracic Aortic Aneurysm (21 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTA2 100.00 1
    BGN 100.00 1
    COL3A1 100.00 1
    FBN1 100.00 1
    FOXE3 100.00 1
    HCN4 100.00 1
    LOX 100.00 1
    LTBP3 100.00 1
    MAT2A 100.00 1
    MFAP5 100.00 1
    MYH11 100.00 1
    MYLK 100.00 1
    PRKG1 100.00 1
    SMAD2 100.00 1
    SMAD3 100.00 1
    TGFB2 100.00 1
    TGFB3 100.00 1
    TGFBR1 100.00 1
    TGFBR2 100.00 1
    IPO8 100.00 1
    EFEMP2 100.00 1
  • Familial melanoma - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BAP1 100.00 1
    CDK4 100.00 1
    CDKN2A 100.00 1
    MITF 100.00 0
    POT1 100.00 0
    ACD 100.00 0
    TERF2IP 100.00 0
    TERT 100.00 0
    MBD4 100.00 0
  • Familial pancreatic cancer
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATM 100.00 1
    BRCA1 100.00 1
    BRCA2 100.00 1
    CDKN2A 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    PALB2 100.00 1
    PMS2 100.00 1
    RABL3 100.00 0
    STK11 100.00 1
    TP53 100.00 1
  • Fanconi anemia - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1 100.00 1
    BRCA2 100.00 1
    BRIP1 100.00 1
    ERCC4 100.00 0
    FANCA 100.00 1
    FANCB 100.00 1
    FANCC 100.00 0
    FANCD2 100.00 1
    FANCE 100.00 0
    FANCF 100.00 0
    FANCG 100.00 0
    FANCI 100.00 0
    FANCL 100.00 0
    FANCM 100.00 0
    MAD2L2 100.00 0
    PALB2 100.00 1
    RAD51 100.00 0
    RAD51C 100.00 1
    RFWD3 100.00 0
    SLX4 100.00 0
    UBE2T 100.00 0
    XRCC2 100.00 0
  • Glaucoma - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS10 99.99 1
    ADAMTS17 99.99 1
    B3GLCT 99.90 1
    BEST1 99.86 1
    COL18A1 99.99 1
    COL4A1 99.99 1
    CPAMD8 99.97 1
    CREBBP 99.97 1
    CYP1B1 100.00 1
    DDX58 99.84 1
    FBN1 99.85 1
    FOXC1 100.00 1
    FOXD3 99.85 1
    FOXE3 99.29 1
    GJA1 100.00 1
    IFIH1 99.84 1
    LMX1B 100.00 1
    LTBP2 99.97 1
    MYOC 99.98 1
    NTF4 100.00 1
    OCRL 99.89 1
    OPTN 99.98 1
    PAX6 99.95 1
    PITX2 99.98 1
    PITX3 100.00 1
    SBF2 99.77 1
    SH3PXD2B 100.00 1
    TBK1 99.07 1
    TEK 99.98 1
    WDR36 99.46 1
    ASB1 99.98 1
  • Hepatology panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB11 99.86 1
    ABCB4 99.71 1
    ABCC2 99.94 1
    ABCD3 92.70 1
    ABCG5 99.96 1
    ABCG8 99.95 1
    ACADM 96.14 1
    ACADVL 100.00 1
    ACAT1 99.81 1
    ACOX2 99.81 1
    ADK 99.78 1
    AGL 97.67 1
    AGPAT2 100.00 1
    AKR1D1 99.91 1
    ALAD 99.99 1
    ALDOA 100.00 1
    ALDOB 100.00 1
    ALG8 95.49 1
    ALG9 99.73 1
    ALMS1 99.90 1
    AMACR 100.00 1
    ANKS6 100.00 1
    AP1S1 99.49 1
    ARG1 99.95 1
    ASL 99.98 1
    ASS1 77.52 1
    ATP7B 100.00 1
    ATP8B1 99.94 1
    BAAT 99.98 1
    BCS1L 99.99 1
    BSCL2 99.99 1
    BTD 100.00 1
    CAVIN1 100.00 1
    CC2D2A 99.95 1
    CCDC115 99.90 1
    CFTR 99.45 1
    CLDN1 99.99 1
    COG6 99.86 1
    COG7 99.74 1
    CYP21A2 99.91 1
    CPT1A 99.98 1
    CPT2 99.65 1
    CREB3L3 99.98 1
    CYP27A1 100.00 1
    CYP7A1 99.99 1
    CYP7B1 99.82 1
    DCDC2 99.96 1
    DGUOK 99.93 1
    DHCR7 99.97 1
    DKC1 99.59 1
    DLD 99.89 1
    DNAJB11 99.97 1
    EHHADH 99.99 1
    EIF2AK3 97.43 1
    ENO3 100.00 1
    EPHX1 99.97 1
    EPM2A 99.99 1
    ETFA 99.88 1
    ETFB 100.00 1
    FANCA 99.98 1
    FARSA 100.00 1
    FARSB 99.64 1
    FBP1 100.00 1
    FTH1 22.62 1
    G6PC1 99.93 1
    GAA 100.00 1
    GALE 99.90 1
    GALK1 100.00 1
    GALM 100.00 1
    GALT 100.00 1
    GANAB 99.97 1
    GBA 96.92 1
    GBE1 99.73 1
    GFM1 99.95 1
    GNAS 100.00 1
    GUSB 95.07 1
    GYS1 99.98 1
    GYS2 99.86 1
    HADHA 99.98 1
    HAMP 99.99 1
    HFE 100.00 1
    HJV 99.99 1
    HLCS 99.97 1
    HNF1B 100.00 1
    HSD17B4 99.71 1
    HSD3B7 100.00 1
    IARS1 99.89 1
    IFT140 100.00 1
    INVS 99.94 1
    IVD 100.00 1
    JAG1 100.00 1
    KIF12 99.99 1
    KRT18 47.42 1
    KRT8 71.60 1
    LAMP2 98.95 1
    LARS1 99.87 1
    LDHA 99.94 1
    LIPA 99.96 1
    LRP5 99.95 1
    LSR 99.98 1
    MARS1 99.97 1
    MCEE 99.90 1
    MKS1 99.92 1
    MMUT 99.68 1
    MPI 99.95 1
    MPV17 99.98 1
    MVK 99.97 1
    MYO5B 100.00 1
    NBAS 99.86 1
    NEK9 99.99 1
    NEU1 99.98 1
    NGLY1 99.93 1
    NHLRC1 100.00 1
    NOTCH2 99.03 1
    NPC1 99.99 1
    NPC2 100.00 1
    NPHP1 99.05 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NR1H4 99.49 1
    OXCT1 99.82 1
    PODXL 99.99 1
    PCCA 99.90 1
    PCCB 99.97 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
    PFKM 99.57 1
    PGAM2 100.00 1
    PGK1 99.93 1
    PGM1 96.77 1
    PHKA1 99.84 1
    PHKA2 99.92 1
    PHKB 99.69 1
    PHKG2 99.86 1
    PKD1 99.98 1
    PKD2 99.91 1
    PKHD1 99.95 1
    PMM2 99.93 1
    PNPLA3 100.00 1
    POLG 100.00 1
    PPM1F 100.00 1
    PRKAG2 99.96 1
    PRKCSH 99.99 1
    PYGL 99.99 1
    PYGM 99.96 1
    RBCK1 100.00 1
    RINT1 99.99 1
    RPGRIP1L 96.35 1
    SBDS 99.93 1
    SCO1 99.98 1
    SEC63 99.84 1
    SERPINA1 100.00 1
    SLC10A1 99.99 1
    SLC10A2 99.99 1
    SLC16A1 99.26 1
    SLC25A13 99.67 1
    SLC25A20 100.00 1
    SLC2A2 99.96 1
    SLC30A10 99.99 1
    SLC51A 100.00 1
    SLCO1B1 98.69 1
    SLCO1B3 99.85 1
    SMPD1 100.00 1
    PMP22 99.99 1
    STN1 99.88 1
    STT3B 99.96 1
    TALDO1 100.00 1
    TANGO2 99.85 1
    TFR2 99.97 1
    TJP2 99.99 1
    TMEM216 99.98 1
    TMEM67 99.69 1
    TRMU 100.00 1
    TTC37 99.82 1
    TWNK 100.00 1
    UGT1A1 99.98 1
    UNC45A 100.00 1
    UROS 100.00 1
    USP53 99.92 1
    UTP4 99.91 1
    VIPAS39 99.87 1
    VPS33B 99.95 1
    VPS50 98.35 1
    WDR83OS 100.00 1
    YARS1 99.29 1
    ZFYVE19 99.99 1
  • Hereditary cancer predisposition - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABRAXAS1 100.00 0
    ACD 100.00 0
    AIP 100.00 0
    AMER1 100.00 0
    APC 100.00 0
    ATM 100.00 0
    AXIN2 100.00 0
    BAP1 100.00 0
    BARD1 100.00 0
    BLM 100.00 0
    BMPR1A 100.00 0
    BRCA1 100.00 0
    BRCA2 100.00 0
    BRIP1 100.00 0
    BUB1B 100.00 0
    BUB3 100.00 0
    CDH1 100.00 0
    CDK12 100.00 0
    CDK4 100.00 0
    CDKN1B 100.00 0
    CDKN2A 100.00 0
    CHEK1 100.00 0
    CHEK2 100.00 0
    CTNNA1 100.00 0
    CTNNB1 100.00 0
    DICER1 100.00 0
    EDN3 100.00 0
    EDNRB 100.00 0
    EPCAM 100.00 0
    ERCC4 100.00 0
    FANCA 100.00 0
    FANCB 100.00 0
    FANCC 100.00 0
    FANCD2 100.00 0
    FANCE 100.00 0
    FANCF 100.00 0
    FANCG 100.00 0
    FANCI 100.00 0
    FANCL 100.00 0
    FANCM 100.00 0
    FH 100.00 0
    FLCN 100.00 0
    GDNF 100.00 0
    GREM1 100.00 0
    HNF1B 100.00 0
    HOXB13 100.00 0
    MAD2L2 100.00 0
    MAX 100.00 0
    MEN1 100.00 0
    MET 100.00 0
    MITF 100.00 0
    MLH1 100.00 0
    MRE11 100.00 0
    MSH2 100.00 0
    MSH3 100.00 0
    MSH6 100.00 0
    MUTYH 100.00 0
    NBN 100.00 0
    NRG3 100.00 0
    NRTN 100.00 0
    NTHL1 100.00 0
    PALB2 100.00 0
    PALLD 100.00 0
    PBRM1 100.00 0
    PMS2 100.00 0
    POLD1 100.00 0
    POLE 100.00 0
    POT1 100.00 0
    PPP2R2A 100.00 0
    PTEN 100.00 0
    RABL3 100.00 0
    RAD50 100.00 0
    RAD51 100.00 0
    RAD51B 100.00 0
    RAD51C 100.00 0
    RAD51D 100.00 0
    RAD54L 100.00 0
    RECQL 100.00 0
    RET 100.00 0
    RFWD3 100.00 0
    RNF43 100.00 0
    SDHA 100.00 0
    SDHAF2 100.00 0
    SDHB 100.00 0
    SDHC 100.00 0
    SDHD 100.00 0
    SEMA3C 100.00 0
    SEMA3D 100.00 0
    SLX4 100.00 0
    SMAD4 100.00 0
    SMARCA4 100.00 0
    SOX10 100.00 0
    SPINK1 100.00 0
    STK11 100.00 0
    SUCLG2 100.00 0
    TERF2IP 100.00 0
    TERT 100.00 0
    TMEM127 100.00 0
    TP53 100.00 0
    TSC1 100.00 0
    TSC2 100.00 0
    UBE2T 100.00 0
    VHL 100.00 0
    WT1 100.00 0
    XRCC2 100.00 0
    MBD4 100.00 0
    NRG1 100.00 0
  • Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1
    BMPR1A 100.00 1
    GREM1 100.00 1 CNV for recurrent 40kb duplication
    MLH1 100.00 1
    MSH2 100.00 1
    MSH3 100.00 0
    MSH6 100.00 1
    MUTYH 100.00 1
    NTHL1 100.00 0
    PMS2 100.00 1
    POLD1 100.00 0
    POLE 100.00 1
    PTEN 100.00 1
    SMAD4 100.00 1
    STK11 100.00 1
    RNF43 100.00 0
    AXIN2 100.00 0
    EPCAM 100.00 1 CNV for EPCAM exon 7-9 and region between EPCAM and MSH2
  • Heterotaxie PCD - UZGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTC1 98.57 0
    ACVR2B 99.99 0
    AK7 99.93 0
    ALMS1 99.90 0
    ANKS6 100.00 0
    BBS1 100.00 0
    BBS10 99.98 0
    BBS2 99.90 0
    BCL9L 99.99 0
    BCOR 99.97 0
    BRAF 99.78 0
    C1orf127 99.98 0
    CBL 99.95 0
    CCDC103 99.68 0
    CCDC39 99.74 0
    CCDC40 100.00 0
    CCDC65 99.80 0
    CCNO 100.00 0
    CENPF 99.97 0
    CEP164 99.99 0
    CEP290 98.10 0
    CFAP298 99.96 0
    CFAP300 99.47 0
    CFAP45 99.97 0
    CFAP52 99.92 0
    CFAP53 99.95 0
    CFAP58 99.96 0
    CFC1 21.93 0
    CFTR 99.45 0
    CHD7 99.99 0
    CITED2 100.00 0
    CRELD1 99.99 0
    DAW1 99.90 0
    DGAT2L6 99.97 0
    DNAAF1 99.99 0
    DNAAF11 99.80 0
    DNAAF2 99.91 0
    DNAAF3 99.99 0
    DNAAF4 99.78 0
    DNAAF5 99.99 0
    DNAAF6 98.73 0
    DNAH1 99.98 0
    DNAH11 99.93 0
    DNAH12 99.36 0
    DNAH14 99.64 0
    DNAH17 99.98 0
    DNAH5 99.98 0
    DNAH8 99.84 0
    DNAH9 99.79 0
    DNAI1 99.92 0
    DNAI2 99.86 0
    DNAJB13 99.91 0
    DRC1 99.93 0
    DYNC1H1 99.99 0
    DYNLT2 99.95 0
    ELN 99.86 0
    EVC 99.95 0
    EVC2 99.97 0
    FOXF1 99.99 0
    FOXH1 100.00 0
    FOXJ1 100.00 0
    GAS2L2 100.00 0
    GAS8 100.00 0
    GATA4 99.99 0
    GATA6 99.90 0
    GDF1 100.00 0
    GJA1 100.00 0
    GPC3 99.60 0
    HAND1 99.99 0
    HES7 100.00 0
    HYDIN 81.28 0
    IFT46 99.58 0
    INVS 99.94 0
    JAG1 100.00 0
    KIF7 100.00 0
    LEFTY1 99.98 0
    LEFTY2 100.00 0
    LMBRD1 99.67 0
    CIROP 91.91 0
    LMNA 99.96 0
    LRRC56 99.98 0
    LZTFL1 100.00 0
    MAP2K1 99.98 0
    MAP2K2 99.99 0
    MCIDAS 100.00 0
    MED13L 99.99 0
    MEGF8 99.90 0
    MEIS2 99.97 0
    MKS1 99.92 0
    MMP21 99.99 0
    MNS1 99.86 0
    MRE11 99.93 0
    MYH6 100.00 0
    NAT10 99.97 0
    NEK10 96.92 0
    NEK9 99.99 0
    NKX2-5 99.75 0
    NKX2-6 100.00 0
    NME5 99.81 0
    NME8 99.83 0
    NODAL 99.98 0
    NOTCH1 99.98 0
    NOTCH2 99.03 0
    NPHP3 99.89 0
    NR2F2 100.00 0
    NSD1 99.98 0
    ODAD1 96.04 0
    ODAD2 98.19 0
    ODAD3 99.96 0
    ODAD4 99.85 0
    OFD1 99.68 0
    PITRM1 99.89 0
    PKD1L1 99.84 0
    PKD2 99.91 0
    PQBP1 99.99 0
    PRRX1 99.56 0
    PTPN11 99.98 0
    RAF1 99.97 0
    RIT1 99.78 0
    RPGR 94.45 0
    RSPH1 99.87 0
    RSPH3 99.94 0
    RSPH4A 99.95 0
    RSPH9 99.99 0
    SERPINE2 99.97 0
    SHOC2 99.96 0
    SHROOM3 99.99 0
    SMAD2 99.92 0
    SMAD6 100.00 0
    SOS1 99.68 0
    SPAG1 99.78 0
    SPEF2 99.93 0
    STK36 99.98 0
    TBX1 99.95 0
    TBX5 99.98 0
    TCTN2 99.99 0
    TP73 100.00 0
    TTC12 99.97 0
    TTC8 99.67 0
    UBR1 99.93 0
    WDR35 99.92 0
    WDR47 95.08 0
    ZFPM2 100.00 0
    ZIC3 99.90 0
    ZMPSTE24 98.70 0
    ZMYND10 99.99 0
    ZNF423 98.94 0
  • Hirschsprung disease - Ugent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    RET 100.00 0
    EDNRB 100.00 0
    EDN3 100.00 0
    SOX10 100.00 0
    GDNF 100.00 0
    NRTN 100.00 0
    SEMA3C 100.00 0
    SEMA3D 100.00 0
    NRG3 100.00 0
    NRG1 100.00 0
  • Hypertrophic cardiomyopathy
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MYBPC3 100.00 1
    MYH7 100.00 1
    TNNT2 100.00 1
    ACTC1 100.00 1
    PRKAG2 100.00 1
    CSRP3 100.00 1
    JPH2 100.00 1
    MYL2 100.00 1
    MYL3 100.00 1
    TNNC1 100.00 1
    TNNI3 100.00 1
    TPM1 100.00 1
  • Intellectual disability & Epilepsy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 99.88 1
    AARS1 99.99 1
    AASS 99.61 1
    ABAT 99.98 1
    ABCA2 100.00 1
    ABCC8 99.98 1
    ABCC9 99.92 1
    ABCD1 99.98 1
    ABCD4 100.00 1
    ABHD16A 100.00 1
    ABHD5 99.98 1
    ACAD9 100.00 1
    ACADM 96.14 1
    ACADS 99.99 1
    ACADSB 99.93 1
    ACAT1 99.81 1
    ACO2 99.99 1
    ACOX1 99.98 1
    ACSF3 99.99 1
    ACSL4 99.59 1
    ACTB 100.00 1
    ACTG1 100.00 1
    ACTL6A 99.74 1
    ACTL6B 99.90 1
    ACVR1 99.94 1
    ACY1 100.00 1
    ADAM22 99.15 1
    ADAR 99.84 1
    ADARB1 94.29 1
    ADAT3 100.00 1
    ADD3 99.95 1
    ADGRG1 99.90 1
    ADGRL1 99.98 1
    ADGRL2 98.18 1
    ADK 99.78 1
    ADNP 100.00 1
    ADPRS 99.94 1
    ADSL 99.93 1
    AFF2 99.89 1
    AFF3 99.63 1
    AFF4 99.94 1
    AFG3L2 99.97 1
    AGA 99.92 1
    AGO1 99.73 1
    AGO2 99.97 1
    AGPAT2 100.00 1
    AGTPBP1 99.68 1
    AHCY 100.00 1
    AHDC1 100.00 1
    AHI1 99.86 1
    AIFM1 99.92 1
    AIMP1 99.97 1
    AIMP2 99.99 1
    AK1 100.00 1
    AKT3 99.81 1
    ALDH18A1 99.96 1
    ALDH3A2 99.95 1
    ALDH4A1 98.97 1
    ALDH5A1 96.19 1
    ALDH7A1 99.49 1
    ALG1 86.66 1
    ALG11 99.99 1
    ALG12 100.00 1
    ALG13 99.44 1
    ALG14 99.34 1
    ALG2 100.00 1
    ALG3 99.96 1
    ALG6 93.37 1
    ALG8 95.49 1
    ALG9 99.73 1
    ALKBH8 99.98 1
    ALMS1 99.90 1
    ALPL 99.88 1
    ALX1 97.99 1
    ALX4 100.00 1
    AMACR 100.00 1
    AMER1 100.00 1
    AMMECR1 99.87 1
    AMPD2 99.91 1
    AMT 100.00 1
    ANK2 99.98 1
    ANK3 99.79 1
    ANKLE2 99.99 1
    ANKRD11 99.85 1
    ANKRD17 99.92 1
    ANO10 99.93 1
    ANTXR1 99.83 1
    AP1G1 99.95 1
    AP1S1 99.49 1
    AP1S2 99.56 1
    AP2M1 99.69 1
    AP3B1 99.89 1
    AP3B2 100.00 1
    AP3D1 100.00 1
    AP4B1 96.92 1
    AP4E1 99.94 1
    AP4M1 99.98 1
    AP4S1 87.89 1
    AP5Z1 100.00 1
    APC2 99.98 1
    APTX 99.92 1
    ARCN1 99.92 1
    ARF1 99.99 1
    ARFGEF1 99.86 1
    ARFGEF2 99.99 1
    ARG1 99.95 1
    ARHGAP31 100.00 1
    ARHGEF9 99.89 1
    ARID1A 99.83 1
    ARID1B 99.69 1
    ARID2 99.48 1
    ARL13B 99.53 1
    ARL6 99.90 1
    ARMC9 99.77 1
    ARSA 99.99 1
    ARSL 99.93 1
    ARV1 99.85 1
    ARX 95.36 1
    ASAH1 99.90 1
    ASH1L 99.79 1
    ASL 99.98 1
    ASNS 99.63 1
    ASPA 99.98 1
    ASPM 99.57 1
    ASS1 77.52 1
    ASXL1 100.00 1
    ASXL2 99.82 1
    ASXL3 99.99 1
    ATAD1 99.85 1
    ATAD3A 99.62 1
    ATCAY 100.00 1
    ATG7 99.90 1
    ATIC 99.86 1
    ATL1 99.95 1
    ATM 99.83 1
    ATN1 99.90 1
    ATP13A2 99.96 1
    ATP1A1 98.41 1
    ATP1A2 99.85 1
    ATP1A3 99.98 1
    ATP2A2 99.98 1
    ATP2B1 99.39 1
    ATP6AP2 99.55 1
    ATP6V0A1 99.85 1
    ATP6V0A2 99.92 1
    ATP6V1A 99.73 1
    ATP6V1B2 99.99 1
    ATP7A 99.87 1
    ATP8A2 100.00 1
    ATP9A 99.99 1
    ATPAF2 99.96 1
    ATRX 99.44 1
    ATXN2 99.88 1
    AUH 99.95 1
    AUTS2 99.87 1
    AVPR2 100.00 1
    B3GALNT2 92.79 1
    B3GALT6 100.00 1
    B3GLCT 99.90 1
    B4GALNT1 99.97 1
    B4GALT1 99.97 1
    B4GALT7 99.99 1
    B4GAT1 100.00 1
    B9D1 99.80 1
    B9D2 99.88 1
    BAZ2B 99.63 1
    BBS1 100.00 1
    BBS10 99.98 1
    BBS12 100.00 1
    BBS2 99.90 1
    BBS4 99.88 1
    BBS5 99.00 1
    BBS7 99.42 1
    BBS9 99.75 1
    BCAP31 99.95 1
    BCAS3 99.31 1
    BCKDHA 99.97 1
    BCKDHB 99.73 1
    BCKDK 99.99 1
    BCL11A 99.93 1
    BCL11B 100.00 1
    BCOR 99.97 1
    BCORL1 99.99 1
    BCS1L 99.99 1
    BICD2 99.99 1
    BICRA 99.99 1
    BLM 99.80 1
    BLOC1S1 99.95 1
    BMP4 100.00 1
    BOLA3 99.22 1
    BPTF 99.84 1
    BRAF 99.78 1
    BRAT1 100.00 1
    BRD4 99.98 1
    BRF1 100.00 1
    BRPF1 100.00 1
    BRSK2 99.98 1
    BRWD3 99.40 1
    BSCL2 99.99 1
    BTD 100.00 1
    BUB1B 100.00 1
    C12ORF4 99.93 1
    C12ORF57 100.00 1
    C2CD3 99.88 1
    CA2 99.62 1
    CA5A 99.99 1
    CA8 99.71 1
    CACNA1A 98.16 1
    CACNA1B 100.00 1
    CACNA1C 100.00 1
    CACNA1D 99.98 1
    CACNA1E 99.82 1
    CACNA1G 99.95 1
    CACNA1H 100.00 1
    CACNA1I 99.98 1
    CACNA2D1 97.12 1
    CACNA2D2 99.99 1
    CACNB4 99.20 1
    CACNG2 99.99 1
    CAD 99.86 1
    CAMK2A 99.99 1
    CAMK2B 99.92 1
    CAMK2G 99.95 1
    CAMK4 99.78 1
    CAMTA1 99.97 1
    CAPN10 99.99 1
    CAPN15 99.98 1
    CARS1 99.99 1
    CARS2 99.99 1
    CASK 98.95 1
    CBL 99.95 1
    CBS 17.79 1
    CC2D1A 99.98 1
    CC2D2A 99.95 1
    CCBE1 99.52 1
    CCDC115 99.90 1
    CCDC174 99.98 1
    CCDC22 99.91 1
    CCDC47 99.97 1
    CCDC88A 99.48 1
    CCDC88C 100.00 1
    CCM2 99.93 1
    CCND2 100.00 1
    CCNK 99.93 1
    CDC42 98.05 1
    CDC42BPB 99.99 1
    CDH11 99.94 1
    CDH15 99.98 1
    CDH2 99.84 1
    CDK10 99.98 1
    CDK13 99.83 1
    CDK19 99.26 1
    CDK5RAP2 99.97 1
    CDK6 99.47 1
    CDK8 99.81 1
    CDKL5 99.88 1
    CDKN1C 100.00 1
    CDON 99.99 1
    CELF2 99.99 1
    CELSR3 99.99 1
    CENPF 99.97 1
    CENPJ 99.92 1
    CEP104 99.99 1
    CEP120 99.90 1
    CEP135 99.82 1
    CEP152 99.93 1
    CEP290 98.10 1
    CEP41 99.99 1
    CEP55 99.92 1
    CEP57 99.92 1
    CEP63 94.73 1
    CEP83 98.68 1
    CEP85L 100.00 1
    CERS1 100.00 1
    CERT1 99.66 1
    CHAMP1 99.99 1
    CHD1 99.46 1
    CHD2 99.97 1
    CHD3 99.06 1
    CHD4 99.99 1
    CHD5 99.97 1
    CHD7 99.99 1
    CHD8 99.96 1
    CHKB 100.00 1
    CHMP1A 100.00 1
    CHRNA2 99.98 1
    CHRNA4 100.00 1
    CHRNB2 99.99 1
    CIC 98.32 1
    CILK1 99.69 1
    CIT 99.99 1
    CKAP2L 99.54 1
    CLCN3 99.95 1
    CLCN4 99.98 1
    CLCNKB 99.98 1
    CLDN11 100.00 1
    CLDN16 99.98 1
    CLDN19 99.02 1
    CLIC2 99.82 1
    CLN3 99.92 1
    CLN5 100.00 1
    CLN6 100.00 1
    CLN8 100.00 1
    CLP1 99.98 1
    CLPB 99.97 1
    CLTC 99.56 1
    CNKSR2 99.54 1
    CNNM2 99.94 1
    CNOT1 99.83 1
    CNOT2 99.00 1
    CNOT3 99.99 1
    CNPY3 99.98 1
    CNTN2 99.95 1
    CNTNAP1 99.98 1
    CNTNAP2 99.99 1
    COA8 99.94 1
    COASY 99.98 1
    COG1 100.00 1
    COG4 99.96 1
    COG5 99.92 1
    COG6 99.86 1
    COG7 99.74 1
    COG8 100.00 1
    COL18A1 99.99 1
    COL4A1 99.99 1
    COL4A2 99.98 1
    COLEC11 100.00 1
    COPB1 99.87 1
    COPB2 99.83 1
    COQ2 99.90 1
    COQ4 100.00 1
    COQ5 99.95 1
    COQ8A 100.00 1
    COQ9 99.62 1
    COX10 99.99 1
    COX15 100.00 1
    COX6B1 100.00 1
    CYP2A6 99.99 1
    CPE 99.93 1
    CPLANE1 99.81 1
    CPLX1 100.00 1
    CYP21A2 99.91 1
    CPSF3 99.93 1
    CPT2 99.65 1
    CRADD 99.90 1
    CRB2 99.95 1
    CRBN 99.97 1
    CREBBP 99.97 1
    CRH 100.00 1
    CRLF1 99.99 1
    CRPPA 99.98 1
    CSDE1 97.17 1
    CSNK1G1 99.95 1
    CSNK2A1 99.96 1
    CSNK2B 99.65 1
    CSPP1 98.31 1
    CSTB 100.00 1
    CTBP1 99.98 1
    CTC1 100.00 1
    CTCF 99.87 1
    CTDP1 99.97 1
    CTNNA2 99.84 1
    CTNNB1 99.95 1
    CTNND1 99.92 1
    CTNND2 99.97 1
    CTSA 99.98 1
    CTSD 100.00 1
    CTSF 99.96 1
    CTU2 99.91 1
    CUBN 99.99 1
    CUL3 99.76 1
    CUL4B 99.67 1
    CUX1 99.37 1
    CUX2 99.96 1
    CWC27 99.67 1
    CWF19L1 99.91 1
    CYB5R3 99.93 1
    CYC1 99.86 1
    CYFIP2 100.00 1
    CYP27A1 100.00 1
    CYP2U1 99.99 1
    D2HGDH 100.00 1
    DAG1 100.00 1
    DARS1 98.85 1
    DARS2 98.31 1
    DBT 94.51 1
    DCAF17 99.84 1
    DCC 99.96 1
    DCHS1 100.00 1
    DCPS 99.98 1
    DCX 99.99 1
    DDB1 99.96 1
    DDC 99.67 1
    DDHD2 99.97 1
    DDX11 99.74 1
    DDX23 99.94 1
    DDX3X 99.01 1
    DDX59 99.67 1
    DDX6 99.88 1
    DEAF1 99.90 1
    DEGS1 99.99 1
    DENND5A 99.99 1
    DEPDC5 99.18 1
    DHCR24 99.93 1
    DHCR7 99.97 1
    DHDDS 98.65 1
    DHFR 98.89 1
    DHPS 93.17 1
    DHTKD1 99.95 1
    DHX16 99.98 1
    DHX30 99.96 1
    DHX37 99.98 1
    DIAPH1 99.95 1
    DIS3L2 99.90 1
    DKC1 99.59 1
    DLAT 99.65 1
    DLD 99.89 1
    DLG3 99.96 1
    DLG4 99.99 1
    DLL1 99.99 1
    DMD 99.76 1
    DMPK 99.93 1
    DMXL2 99.86 1
    DNAJC12 99.72 1
    DNAJC19 99.76 1
    DNAJC5 99.99 1
    DNM1 92.28 1
    DNM1L 99.40 1
    DNMT3A 100.00 1
    DNMT3B 99.98 1
    DOCK3 99.96 1
    DOCK6 100.00 1
    DOCK7 94.41 1
    DOCK8 99.86 1
    DOLK 100.00 1
    DONSON 99.99 1
    DPAGT1 100.00 1
    DPF2 99.99 1
    DPH1 100.00 1
    DPM1 90.68 1
    DPM2 100.00 1
    DPP6 99.99 1
    DPYD 94.53 1
    DPYS 99.99 1
    DPYSL5 99.93 1
    DSCAM 99.99 1
    DYM 99.96 1
    DYNC1H1 99.99 1
    DYNC1I2 98.97 1
    DYRK1A 99.98 1
    EARS2 99.96 1
    EBF3 99.99 1
    GLB1 100.00 1
    ECHS1 100.00 1
    EDC3 99.97 1
    EDEM3 98.38 1
    EED 93.81 1
    EEF1A2 100.00 1
    EFNB2 99.92 1
    EFTUD2 99.93 1
    EHMT1 98.38 1
    EIF2AK2 99.70 1
    EIF2AK3 97.43 1
    EIF2B1 99.98 1
    EIF2B2 99.90 1
    EIF2B3 97.26 1
    EIF2B4 99.96 1
    EIF2B5 99.98 1
    EIF2S3 99.34 1
    EIF3F 99.96 1
    EIF4A3 99.99 1
    EIF5A 100.00 1
    ELAC2 99.90 1
    ELOVL4 99.91 1
    ELP2 99.82 1
    EMC1 99.85 1
    EMC10 99.96 1
    EML1 99.99 1
    EMX2 100.00 1
    ENTPD1 99.98 1
    EP300 99.97 1
    EPB41L1 100.00 1
    EPG5 99.95 1
    EPHA7 99.97 1
    EPM2A 99.99 1
    EPRS1 99.53 1
    ERBB4 99.92 1
    ERCC1 99.96 1
    ERCC2 99.99 1
    ERCC3 99.90 1
    ERCC5 99.99 1
    ERCC6 99.60 1
    ERCC6L2 99.94 1
    ERCC8 99.79 1
    ERLIN2 99.94 1
    ESCO2 99.92 1
    ETFA 99.95 1
    ETFB 100.00 1
    ETFDH 99.82 1
    ETHE1 84.97 1
    EXOC2 99.97 1
    EXOC7 100.00 1
    EXOSC2 100.00 1
    EXOSC3 100.00 1
    EXOSC8 99.91 1
    EXOSC9 94.91 1
    EXT2 99.98 1
    EXTL3 99.99 1
    EZH2 99.89 1
    FA2H 99.98 1
    FAM111A 100.00 1
    FAM126A 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