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  2. Centrum Medische Genetica - UZ Gent

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
2022 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
2022 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
2022 Postnatal constitutional CNV detection GenQA (Genomics Quality Assessment)
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)
2022 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)
2022 Postnatal 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)
2021 Pathogenicity of germline postnatal copy number variants (CNV) (Classification only) 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)
2022 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)
2022 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)
2022 ISCN (classification only) GenQA (Genomics Quality Assessment)
2020 Pregnancy loss GenQA (Genomics Quality Assessment)
2021 Pregnancy loss GenQA (Genomics Quality Assessment)
2022 NIPT for common aneuploidies GenQA (Genomics Quality Assessment)
2022 Rapid prenatal testing for common aneuploidies GenQA (Genomics Quality Assessment)
Created:
12 Jun 2018 - 14:53
Changed:
30 Jan 2023 - 15:12
  • 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
    LYST 99.87 1
    GLE1 99.99 -2
    SORD 85.52 -2
    SPTLC1 99.74 -2
  • 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
    HYCC1 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
    CRIPTO 99.82 1
    TEAD1 99.97 1
    TEK 99.98 1
    TFAP2A 100.00 1
    TFAP2B 99.98 1
    TFAP2C 100.00 1
    TGFB1 100.00 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TGIF1 100.00 1
    THBS1 100.00 1
    THBS4 100.00 1
    THOC5 99.90 1
    THRB 99.82 1
    DDR2 97.39 1
    TLL1 99.94 1
    TNFRSF11A 100.00 1
    TNFRSF1A 100.00 1
    TNNI3 100.00 1
    TNNT2 99.87 1
    TNR 99.80 1
    TP53 99.98 1
    TP73 100.00 1
    TPM1 99.92 1
    TRPM2 99.99 1
    TSR2 99.96 1
    TTN 99.15 1
    TWIST1 100.00 1
    UBE2B 99.94 1
    UBE2T 99.89 1
    USP44 99.86 1
    USP9X 99.84 1
    VCAN 99.99 1
    VDR 99.86 1
    VEGFA 99.99 1
    VEGFC 99.96 1
    WASHC5 99.98 1
    WDR5 100.00 1
    WNT11 100.00 1
    WT1 99.99 1
    YY1 100.00 1
    ZEB2 99.97 1
    ZFHX3 99.96 1
    ZFPM2 100.00 1
    ZIC3 99.90 1
    ZMYND10 99.99 1
  • Corneal dystrophy - UGent
    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
  • Craniosynostosis (UZ Gent)
  • 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
    RIGI 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
    GBA1 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
    SKIC3 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 - UGent
    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 - UGent
    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
    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
  • Leber Congenital Amaurosis - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AIPL1 100.00 0
    CEP290 100.00 0
    CRB1 100.00 0
    GUCY2D 100.00 0
    IQCE 100.00 0
    LCA5 100.00 0
    LRAT 100.00 0
    NMNAT1 100.00 0
    RDH12 100.00 0
    RPE65 100.00 0
    CRX 100.00 0
  • Leukodystrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS2 99.98 1
    ABAT 99.98 1
    ABCD1 99.98 1
    ACBD5 99.97 1
    ACER3 99.76 1
    ACOX1 99.98 1
    ACP5 100.00 1
    ACTL6B 99.90 1
    ADAR 99.84 1
    ADGRG1 99.90 1
    ADSL 99.93 1
    AGA 99.92 1
    AIFM1 99.92 1
    AIMP1 99.97 1
    AIMP2 99.99 1
    ALDH3A2 99.95 1
    ALDH5A1 96.19 1
    APP 99.92 1
    ARSA 99.99 1
    ASAH1 99.90 1
    ASPA 99.98 1
    ATAD3A 99.62 1
    ATP7A 99.87 1
    ATP7B 100.00 1
    AUH 99.95 1
    B3GALNT2 92.79 1
    BCAP31 99.95 1
    BCS1L 99.99 1
    BOLA3 99.22 1
    BTD 100.00 1
    CBS 17.79 1
    CIC 98.32 1
    CLCN2 100.00 1
    CLN3 99.92 1
    CLN5 100.00 1
    CLN6 100.00 1
    CLN8 100.00 1
    CNP 99.98 1
    CNTNAP1 99.98 1
    COA8 99.94 1
    COL4A1 99.99 1
    COL4A2 99.98 1
    COX10 99.99 1
    COX15 100.00 1
    CYP21A2 99.91 1
    CSF1R 99.92 1
    CTC1 100.00 1
    CTSA 99.98 1
    CTSD 100.00 1
    CTSF 99.96 1
    CYP27A1 100.00 1
    DAG1 100.00 1
    DARS1 98.85 1
    DARS2 98.31 1
    DCAF17 99.84 1
    DDHD2 99.97 1
    DEGS1 99.99 1
    DGUOK 99.93 1
    DLAT 99.65 1
    DLD 99.89 1
    DMXL2 99.86 1
    DNAJC5 99.99 1
    EARS2 99.96 1
    ECHS1 100.00 1
    EIF2AK1 99.90 1
    EIF2AK2 99.70 1
    EIF2B1 99.98 1
    EIF2B2 99.90 1
    EIF2B3 97.26 1
    EIF2B4 99.96 1
    EIF2B5 99.98 1
    EPRS1 99.53 1
    ERCC2 99.98 1
    ERCC3 99.90 1
    ERCC6 99.60 1
    ERCC8 99.79 1
    FA2H 99.98 1
    HYCC1 99.81 1
    FAR1 99.82 1
    FARS2 100.00 1
    FASTKD2 99.93 1
    FBXL4 100.00 1
    FDX2 99.99 1
    CFH 99.97 1
    FIG4 99.83 1
    FKTN 99.94 1
    FLVCR2 100.00 1
    FOLR1 100.00 1
    FUCA1 98.72 1
    GALC 99.92 1
    GALT 100.00 1
    GAN 99.98 1
    GBE1 99.73 1
    GFAP 99.99 1
    GFM1 99.95 1
    GFM2 99.87 1
    GJA1 100.00 1
    GJB1 100.00 1
    GJC2 100.00 1
    GLA 99.90 1
    GLB1 100.00 1
    GM2A 100.00 1
    GNAS 100.00 1
    GPHN 99.94 1
    GRN 100.00 1
    GTF2H5 100.00 1
    HEPACAM 100.00 1
    HEXA 99.99 1
    HEXB 99.91 1
    HIKESHI 99.78 1
    HLCS 99.97 1
    HMGCL 99.31 1
    HSD17B4 99.71 1
    HSPD1 83.42 1
    HTRA1 100.00 1
    IBA57 100.00 1
    IFIH1 99.84 1
    IKBKG 57.34 1
    ISCA2 100.00 1
    IVD 100.00 1
    JAM3 100.00 1
    KARS1 99.98 1
    L2HGDH 99.92 1
    LAMA2 99.95 1
    LARGE1 100.00 1
    LARS2 99.96 1
    LIPT1 99.89 1
    LIPT2 99.99 1
    LMNB1 99.73 1
    LYRM7 99.98 1
    MAN2B1 99.99 1
    MANBA 99.81 1
    MARS2 100.00 1
    MCOLN1 100.00 1
    MFSD8 99.70 1
    MLC1 99.99 1
    MMUT 99.68 1
    MOCS1 99.95 1
    MOCS2 99.96 1
    MPLKIP 99.99 1
    MPV17 99.98 1
    MRPS34 100.00 1
    MTFMT 99.98 1
    MTHFR 99.97 1
    MTO1 90.25 1
    NAXD 99.99 1
    NAXE 99.99 1
    NDUFA2 99.95 1
    NDUFA9 100.00 1
    NDUFAF1 100.00 1
    NDUFAF3 100.00 1
    NDUFAF4 99.95 1
    NDUFAF6 99.86 1
    NDUFS1 99.79 1
    NDUFS2 99.66 1
    NDUFS4 99.99 1
    NDUFS7 99.99 1
    NDUFS8 100.00 1
    NDUFV1 99.99 1
    NEU1 99.98 1
    NKX6-2 100.00 1
    NOTCH3 99.99 1
    NPC1 99.99 1
    NPC2 100.00 1
    NTNG2 99.98 1
    NUBPL 99.62 1
    OCLN 82.91 1
    OCRL 99.89 1
    PAH 99.96 1
    PARS2 99.99 1
    PCCA 99.90 1
    PCCB 99.97 1
    PDGFB 99.99 1
    PDGFRB 99.99 1
    PDHA1 99.04 1
    PDHB 99.94 1
    PDHX 99.64 1
    PDP1 100.00 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
    PLEKHG2 99.99 1
    PLP1 99.98 1
    PLPBP 99.99 1
    PMPCB 99.94 1
    PNPT1 99.56 1
    POLG 100.00 1
    POLR1C 100.00 1
    POLR3A 99.97 1
    POLR3B 99.94 1
    POLR3K 100.00 1
    POMGNT1 99.69 1
    POMT1 99.96 1
    POMT2 99.98 1
    PPT1 97.48 1
    PRF1 100.00 1
    PSAP 99.94 1
    PSAT1 99.98 1
    PSPH 99.09 1
    PYCR2 99.95 1
    QDPR 99.92 1
    RARS1 99.76 1
    RNASEH2A 99.95 1
    RNASEH2B 99.94 1
    RNASEH2C 99.99 1
    RNASET2 99.99 1
    SAMHD1 99.98 1
    SCP2 94.94 1
    SDHA 99.98 1
    SDHAF1 99.99 1
    SDHAF2 99.96 1
    SDHB 97.32 1
    SDHD 82.93 1
    SEPSECS 99.78 1
    SGO1 99.90 1
    SHANK3 98.45 1
    SLC13A3 99.98 1
    SLC16A2 99.97 1
    SLC17A5 99.71 1
    SLC20A2 99.95 1
    SLC25A12 99.72 1
    SLC44A1 99.90 1
    SLC7A2 99.97 1
    SNAP29 99.85 1
    SNORD118 100.00 1
    SOX10 100.00 1
    SPG11 99.89 1
    STN1 99.88 1
    STX11 100.00 1
    STXBP2 100.00 1
    SUCLA2 99.96 1
    SUMF1 99.95 1
    SUOX 100.00 1
    SURF1 100.00 1
    TACO1 100.00 1
    TMEM106B 99.92 1
    TMEM63A 99.91 1
    ACD 99.99 1
    TREM2 100.00 1
    TREX1 100.00 1
    TSEN54 100.00 1
    TTR 100.00 1
    TUBB4A 100.00 1
    TWNK 100.00 1
    TYMP 99.87 1
    TYROBP 99.95 1
    UBTF 99.99 1
    UFM1 99.25 1
    UNC13D 100.00 1
    VPS11 99.99 1
    WARS2 97.72 1
    WT1 99.99 1
    XPR1 99.13 1
    ZFYVE26 100.00 1
  • Long QT syndrome - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    KCNH2 100.00 1
    KCNQ1 100.00 1
    SCN5A 100.00 1
    CALM2 100.00 1
    CALM1 100.00 1
    CALM3 100.00 1
    TRDN 100.00 1
    CACNA1C 100.00 1
  • Microphthalmia/Anophthalmia/Coloboma - Anterior Segment Dysgenesis - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB6 99.97 1
    ACTB 100.00 1
    ACTG1 100.00 1
    ADAMTS17 99.99 1
    ADAMTS18 99.99 1
    ALDH1A3 99.96 1
    ASPH 99.92 1
    ATOH7 100.00 1
    B3GLCT 99.90 1
    BCOR 99.97 1
    BMP4 100.00 1
    BMP7 100.00 1
    C12ORF57 100.00 1
    CAPN15 99.98 1
    CC2D2A 99.95 1
    CDH2 99.84 1
    CDON 99.99 1
    CHD7 99.99 1
    CHRDL1 99.94 1
    CLDN19 99.02 1
    COL4A1 99.99 1
    COX7B 99.86 1
    CPAMD8 99.97 1
    CRIM1 99.99 1
    CRYBA4 100.00 1
    CYP1B1 100.00 1
    DYRK1A 99.98 1
    ERCC1 99.96 1
    ERCC2 99.98 1
    ERCC5 99.99 1
    ERCC6 99.60 1
    EYA1 99.81 1
    FOXC1 100.00 1
    FOXE3 99.29 1
    FOXL2 99.97 1
    FRAS1 99.97 1
    FREM1 99.98 1
    FREM2 99.97 1
    FZD5 100.00 1
    GDF3 100.00 1
    GDF6 100.00 1
    GJA1 100.00 1
    GRIP1 99.83 1
    HCCS 99.90 1
    HESX1 99.77 1
    HMGB3 0.00 1
    HMX1 100.00 1
    IGBP1 99.90 1
    KDM6A 99.74 1
    KIF26B 100.00 1
    KMT2D 99.98 1
    LRP2 99.86 1
    LTBP2 99.97 1
    MAB21L2 100.00 1
    MFRP 100.00 1
    MICU1 99.56 1
    MITF 99.98 1
    MYRF 99.98 1
    NAA10 99.99 1
    NDP 99.98 1
    NHS 99.96 1
    OCRL 99.89 1
    OTX2 100.00 1
    PAX2 99.99 1
    PAX6 99.95 1
    PIGL 99.98 1
    PITX2 99.98 1
    PITX3 100.00 1
    PORCN 99.93 1
    PQBP1 99.99 1
    PRSS56 100.00 1
    PTCH1 99.99 1
    PUF60 100.00 1
    PXDN 100.00 1
    RAB18 99.76 1
    RAB3GAP1 99.73 1
    RAB3GAP2 99.69 1
    RARB 99.99 1
    PRKRA 100.00 1
    RBP4 99.99 1
    RPGRIP1L 96.35 1
    SALL2 100.00 1
    SALL4 100.00 1
    SHH 100.00 1
    SIX3 100.00 1
    SIX6 100.00 1
    SLC38A8 99.99 1
    SMCHD1 99.83 1
    SMOC1 100.00 1
    SOX2 100.00 1
    STRA6 99.95 1
    TBC1D20 100.00 1
    TENM3 99.99 1
    TFAP2A 100.00 1
    TMEM67 99.69 1
    TMEM98 100.00 1
    VAX1 100.00 1
    VSX1 99.93 1
    VSX2 99.99 1
    WDR37 99.94 1
    YAP1 99.87 1
    ZIC2 100.00 1
  • Movement Disorders - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 99.99 1
    ACTB 100.00 1
    ACTL6B 99.90 1
    ADAR 99.84 1
    ADCY5 99.98 1
    ADH1C 99.94 1
    AFG3L2 99.97 1
    ALDH5A1 96.19 1
    ANO3 99.98 1
    AP3D1 100.00 1
    AP4M1 99.98 1
    APTX 99.92 1
    ARSA 99.99 1
    ARV1 99.85 1
    ARX 95.36 1
    ATM 99.83 1
    ATP13A2 99.96 1
    ATP1A3 99.98 1
    ATP6AP2 99.55 1
    ATP7B 100.00 1
    ATP8A2 100.00 1
    ATXN2 99.88 1
    AUH 99.95 1
    BCAP31 99.95 1
    BCS1L 99.99 1
    C19ORF12 99.99 1
    CACNA1A 99.98 1
    CACNA1B 100.00 1
    CACNA1E 99.82 1
    CARS2 99.99 1
    CHCHD2 99.89 1
    CHMP2B 99.80 1
    CHRNA4 100.00 1
    CHRNB2 99.99 1
    CIZ1 99.94 1
    CLPB 99.97 1
    CNTNAP1 99.98 1
    COASY 99.98 1
    COL6A3 99.99 1
    COQ9 99.62 1
    COX10 99.99 1
    COX15 100.00 1
    CP 99.95 1
    CRAT 99.99 1
    CSF1R 99.92 1
    CTC1 100.00 1
    CYP27A1 100.00 1
    DCAF17 99.84 1
    DCTN1 99.98 1
    DDC 99.67 1
    DEGS1 99.99 1
    DHDDS 98.65 1
    DHX30 99.96 1
    DLAT 99.65 1
    DLD 99.89 1
    DMXL2 99.86 1
    DNAJC13 99.86 1
    DNAJC5 99.99 1
    DNAJC6 99.48 1
    DNAL4 99.89 1
    DRD3 100.00 1
    EARS2 99.96 1
    ECHS1 100.00 1
    EEF1A2 100.00 1
    EIF4G1 100.00 1
    EPRS1 99.53 1
    ETHE1 84.97 1
    FA2H 99.98 1
    FASTKD2 99.93 1
    FBXO7 99.98 1
    FITM2 99.99 1
    FOXG1 99.91 1
    FOXRED1 100.00 1
    FTL 99.99 1
    FUCA1 98.72 1
    FUS 99.93 1
    GABRB2 99.92 1
    GAMT 100.00 1
    GBA1 96.92 1
    GBE1 99.73 1
    GCDH 100.00 1
    GCH1 99.94 1
    GFAP 99.99 1
    GFM2 99.87 1
    GIGYF2 99.94 1
    GJC2 100.00 1
    GLB1 100.00 1
    GRID2 100.00 1
    GM2A 100.00 1
    GNAL 100.00 1
    GNAO1 99.86 1
    GNB1 100.00 1
    GPR88 100.00 1
    GRIN1 100.00 1
    GRIN2B 99.99 1
    GRN 100.00 1
    GSX2 100.00 1
    GTPBP2 99.98 1
    HEXA 99.99 1
    HIBCH 99.70 1
    HPRT1 97.80 1
    HSD17B10 99.98 1
    HTRA2 99.99 1
    HTT 99.98 1
    IFIH1 99.84 1
    IREB2 99.90 1
    IRF2BPL 99.21 1
    JAM2 91.82 1
    JPH3 100.00 1
    KCNA4 100.00 1
    KCNMA1 99.89 1
    KCNQ2 100.00 1
    KCTD17 100.00 1
    KMT2B 99.99 1
    LIPT1 99.89 1
    LIPT2 99.99 1
    LRP10 99.99 1
    LRPPRC 99.80 1
    LRRK2 99.44 1
    LYST 99.87 1
    MAPT 99.80 1
    MAT1A 99.70 1
    MCOLN1 100.00 1
    MDH2 99.54 1
    MECP2 99.95 1
    MECR 99.63 1
    MED20 99.99 1
    MICU1 99.56 1
    MMADHC 99.76 1
    MPV17 99.98 1
    MRE11 99.93 1
    MRPS34 100.00 1
    MYBPC1 99.77 1
    MYORG 99.99 1
    NAXD 99.99 1
    NDUFA1 99.93 1
    NDUFA10 99.98 1
    NDUFA12 99.21 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
    NDUFS8 100.00 1
    NHLRC2 99.83 1
    NKX2-1 100.00 1
    NKX6-2 100.00 1
    NPC1 99.99 1
    NPC2 100.00 1
    NTNG2 99.98 1
    NUP62 100.00 1
    PANK2 99.99 1
    PARK7 99.93 1
    PCCA 99.90 1
    PCCB 99.97 1
    PCDH12 100.00 1
    PCDH19 99.98 1
    PDE10A 87.37 1
    PDE8B 99.98 1
    PDGFB 99.99 1
    PDGFRB 99.99 1
    PDHA1 99.04 1
    PDHX 99.64 1
    PEAR1 99.89 1
    PEX16 99.94 1
    PINK1 99.69 1
    PLA2G6 99.98 1
    PLEKHG2 99.99 1
    PLP1 99.98 1
    PMPCB 99.94 1
    PNKD 100.00 1
    PNKP 100.00 1
    PNPLA8 99.92 1
    PNPT1 99.56 1
    PODXL 93.29 1
    POLG 100.00 1
    POLR3A 99.97 1
    PON1 99.70 1
    PRKN 99.99 1
    PRKRA 99.94 1
    PRNP 100.00 1
    PRRT2 99.97 1
    PTRHD1 100.00 1
    PTS 99.93 1
    QDPR 99.92 1
    RAB11B 100.00 1
    RAB39B 99.99 1
    RAD51 90.17 1
    RELN 99.98 1
    REPS1 99.93 1
    RHOBTB2 100.00 1
    RIC3 100.00 1
    RNF216 99.99 1
    SCN11A 99.94 1
    SCN4A 99.98 1
    SCN8A 99.77 1
    SCP2 94.94 1
    SDHA 99.98 1
    SDHAF1 99.99 1
    SDHD 82.93 1
    SEPSECS 99.78 1
    SERAC1 99.90 1
    SETX 99.97 1
    SGCE 93.12 1
    SLC18A2 100.00 1
    SLC19A3 99.95 1
    SLC20A2 99.95 1
    SLC25A42 99.99 1
    SLC2A1 99.93 1
    SLC30A10 99.99 1
    SLC30A9 99.75 1
    SLC39A14 92.87 1
    SLC44A1 99.90 1
    SLC6A3 99.96 1
    SLC6A8 99.99 1
    SMPD1 100.00 1
    SNCA 99.97 1
    SNCAIP 99.99 1
    SPG11 99.89 1
    SPR 99.99 1
    SQSTM1 100.00 1
    STUB1 99.99 1
    SUCLA2 99.96 1
    SUOX 100.00 1
    SURF1 100.00 1
    SYNJ1 99.91 1
    SYT1 99.70 1
    TAF1 99.84 1
    TANGO2 99.85 1
    TBC1D24 100.00 1
    TENM4 99.99 1
    TH 99.99 1
    THAP1 99.96 1
    TIMM8A 100.00 1
    TOR1A 100.00 1
    TPI1 99.95 1
    TPK1 99.96 1
    TRAK1 99.98 1
    TRAPPC11 99.93 1
    TRAPPC12 99.96 1
    TRIT1 99.25 1
    TSEN2 99.98 1
    TSFM 100.00 1
    TUBB4A 100.00 1
    TXN2 99.88 1
    UBA5 99.95 1
    UBTF 99.99 1
    UCHL1 99.99 1
    UFM1 99.25 1
    UGDH 99.77 1
    UQCRQ 99.96 1
    VAC14 99.91 1
    VAMP2 100.00 1
    VCP 99.99 1
    VPS13A 99.68 1
    VPS13C 99.65 1
    VPS13D 99.96 1
    VPS16 100.00 1
    VPS35 99.83 1
    WARS2 97.72 1
    WDR45 99.99 1
    WDR73 99.92 1
    XK 99.98 1
    XPR1 99.13 1
    YY1 100.00 1
    ZC4H2 99.98 1
    ZNF142 100.00 1
  • Myopia gene panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS18 99.99 1
    AGRN 99.99 1
    ARR3 99.94 1
    BSG 100.00 1
    CACNA1F 99.94 1
    CNGB3 99.96 1
    COL11A1 90.72 1
    COL18A1 99.99 1
    COL2A1 99.87 1
    COL9A1 99.91 1
    COL9A2 98.76 1
    COL9A3 99.99 1
    CPSF1 99.99 1
    CTSH 99.99 1
    DZIP1 99.97 1
    FBN1 99.85 1
    GPR179 99.99 1
    GRM6 100.00 1
    GZF1 100.00 1
    LOXL3 99.95 1
    LRIT3 100.00 1
    LRP2 99.86 1
    LRPAP1 99.99 1
    NDUFAF7 99.98 1
    NYX 100.00 1
    OPN1LW 71.75 1
    OPN1MW 30.23 1
    P3H2 99.93 1
    P4HA2 100.00 1
    PRIMPOL 99.86 1
    RAB28 99.97 1
    RPGR 94.45 1
    SCO2 100.00 1
    SLC39A5 99.99 1
    SLITRK6 100.00 1
    TNFRSF21 99.97 1
    TRPM1 99.96 1
    XYLT1 99.98 1
    ZNF644 99.37 1
  • Nephropathy panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 99.98 1
    ACTG2 99.99 1
    ACTN4 100.00 1
    ADAMTS13 100.00 1
    ADAMTS9 99.94 1
    ADCY10 99.77 1
    AGXT 100.00 1
    AGTR1 99.97 1
    AHI1 99.86 1
    ALDOB 100.00 1
    ALG1 86.66 1
    ALG8 95.49 1
    ALG9 99.73 1
    ALMS1 99.90 1
    ALPL 99.88 1
    ABCD1 100.00 1
    ANKS6 100.00 1
    ANLN 99.85 1
    ANOS1 99.96 1
    AP2S1 99.98 1
    APOA1 100.00 1
    APOA2 99.84 1
    APOL1 99.99 1
    APRT 100.00 1
    AQP2 100.00 1
    ARHGAP24 99.86 1
    ARHGDIA 100.00 1
    ARL13B 99.53 1
    ARL6 99.90 1
    ARSA 99.99 1
    ATP6V0A4 99.93 1
    ATP6V1B1 99.98 1
    ATP7B 100.00 1
    NLRP3 100.00 1
    AVPR2 100.00 1
    B9D1 99.80 1
    B9D2 99.88 1
    BBIP1 99.99 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
    BICC1 99.76 1
    BMP4 100.00 1
    BMP7 100.00 1
    BSND 99.92 1
    C3 100.00 1
    C5 99.92 1
    CA2 99.62 1
    CACNA1S 99.96 1
    CASR 99.99 1
    CC2D2A 99.95 1
    CCDC39 99.74 1
    CCNQ 99.98 1
    CD151 100.00 1
    CD2AP 99.69 1
    CD46 99.86 1
    CDC5L 99.83 1
    CDKN1C 100.00 1
    CEP104 99.99 1
    CEP120 99.90 1
    CEP164 99.99 1
    CEP290 98.10 1
    CEP41 99.99 1
    CEP83 98.68 1
    CFAP418 100.00 1
    CFB 99.97 1
    CFH 99.12 1
    CFHR1 84.44 1
    CFHR2 90.26 1
    CFHR3 91.62 1
    CFHR4 99.86 1
    CFHR5 99.68 1
    CFI 99.87 1
    CHD1L 98.53 1
    CHD7 99.99 1
    CHRM3 100.00 1
    CHRNA3 99.95 1
    CLCN5 99.67 1
    CLCN7 99.99 1
    CLCNKA 99.98 1
    CLCNKB 99.98 1
    CLDN10 99.97 1
    CLDN16 99.98 1
    CLDN19 99.02 1
    CNNM2 99.94 1
    COL4A1 99.99 1
    COL4A3 99.94 1
    COL4A4 99.95 1
    COL4A5 99.64 1
    COQ2 99.90 1
    COQ6 99.94 1
    COQ7 100.00 1
    COQ8A 100.00 1
    COQ8B 99.94 1
    COQ9 99.62 1
    CPLANE1 99.81 1
    CPT2 99.65 1
    CRB2 99.95 1
    CSPP1 98.31 1
    CTNS 100.00 1
    CUBN 99.99 1
    CUL3 99.76 1
    CYP11B2 100.00 1
    CYP24A1 100.00 1
    DAAM2 99.99 1
    DCDC2 99.96 1
    DGKE 99.10 1
    DMP1 99.99 1
    DNAJB11 99.97 1
    DSTYK 99.83 1
    DYNC2H1 99.66 1
    DYNC2I1 99.99 1
    DZIP1L 98.46 1
    EGF 99.96 1
    EGFR 99.68 1
    EHHADH 99.99 1
    EMP2 100.00 1
    ENPP1 99.88 1
    EVC 99.95 1
    EVC2 99.97 1
    EYA1 99.81 1
    FANCA 99.98 1
    FAHD2A 100.00 1
    FAM186B 99.99 1
    FAM20A 100.00 1
    FAN1 99.73 1
    FAT1 99.99 1
    FGA 99.98 1
    FGF20 99.71 1
    FGF23 100.00 1
    FGFR1 100.00 1
    FH 99.95 1
    FLCN 99.51 1
    FN1 99.95 1
    FRAS1 99.97 1
    FREM1 99.98 1
    FREM2 99.97 1
    FXYD2 100.00 1
    G6PC1 99.93 1
    GALNT3 99.52 1
    GALT 100.00 1
    GANAB 99.97 1
    GATA3 99.96 1
    GATM 99.92 1
    GDNF 99.99 1
    GLA 99.90 1
    GLI3 100.00 1
    GLIS2 100.00 1
    GNA11 99.99 1
    GON7 99.92 1
    GPC3 99.60 1
    GRHPR 99.93 1
    GRIP1 99.83 1
    GSN 99.93 1
    HNF1B 100.00 1
    HNF4A 100.00 1
    HOGA1 100.00 1
    HPRT1 97.80 1
    HPSE2 100.00 1
    HSD11B2 99.99 1
    IFT122 99.98 1
    IFT140 100.00 1
    IFT172 99.98 1
    IFT27 100.00 1
    IFT43 99.97 1
    IFT80 99.69 1
    IFT81 94.64 1
    INCENP 99.99 1
    INF2 99.99 1
    INPP5E 99.85 1
    INVS 99.94 1
    IQCB1 99.72 1
    ITGA3 99.86 1
    ITGA8 99.95 1
    ITGB4 99.99 1
    JAG1 100.00 1
    KANK1 99.99 1
    KANK2 99.99 1
    KANK4 99.70 1
    KCNA1 100.00 1
    KCNJ1 100.00 1
    KCNJ10 99.98 1
    KIAA0586 95.75 1
    KIF14 97.80 1
    KIF7 100.00 1
    KL 99.98 1
    KLHL3 99.97 1
    LAGE3 99.99 1
    LAMB2 99.99 1
    LMNA 99.96 1
    LMX1B 100.00 1
    LRIG2 97.97 1
    LRP2 99.86 1
    LRP5 99.95 1
    LRP6 99.91 1
    LYZ 99.86 1
    LZTFL1 100.00 1
    MAGED2 99.98 1
    MAGI2 99.89 1
    MAPKBP1 99.98 1
    MET 99.97 1
    MKKS 100.00 1
    MKS1 99.92 1
    MMACHC 99.98 1
    MUC1 99.98 1
    MYH9 99.95 1
    MYO1E 99.94 1
    NEIL1 99.99 1
    NEK1 99.83 1
    NEK9 99.99 1
    NOTCH2 99.03 1
    NPHP1 99.05 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NPHS1 99.97 1
    NPHS2 99.87 1
    NR3C2 100.00 1
    NUP107 97.46 1
    NUP133 99.45 1
    NUP205 99.92 1
    NUP93 99.87 1
    NXF5 96.29 1
    OCRL 99.89 1
    OFD1 99.68 1
    PAX2 99.99 1
    PAX8 99.99 1
    PBX1 99.88 1
    PCBD1 99.84 1
    PDE6D 99.94 1
    PDSS1 95.70 1
    PDSS2 99.87 1
    PHEX 99.83 1
    PKD1 99.98 1
    PKD2 99.91 1
    PKHD1 99.95 1
    PLCE1 99.98 1
    PLG 99.89 1
    PMM2 99.93 1
    PRKCSH 99.99 1
    PSAP 99.94 1
    PTEN 99.89 1
    PTPRO 99.91 1
    PYGM 99.96 1
    RBM48 99.09 1
    RCOR1 99.97 1
    REN 99.85 1
    RET 99.97 1
    ROBO2 99.80 1
    RPGRIP1 99.95 1
    RPGRIP1L 96.35 1
    RRM2B 99.97 1
    SALL1 100.00 1
    SALL4 100.00 1
    SARS2 99.99 1
    SCARB2 99.99 1
    SCNN1A 100.00 1
    SCNN1B 99.38 1
    SCNN1G 99.94 1
    SDCCAG8 100.00 1
    SDHB 97.32 1
    SDHD 82.93 1
    SEC61A1 99.99 1
    SEC63 99.84 1
    SGPL1 99.95 1
    SIX1 100.00 1
    SIX2 100.00 1
    SIX5 100.00 1
    SLC12A1 99.90 1
    SLC12A3 99.84 1
    SLC22A12 99.99 1
    SLC26A1 100.00 1
    SLC26A3 99.97 1
    SLC2A2 99.96 1
    SLC2A9 99.98 1
    SLC34A1 99.99 1
    SLC34A3 100.00 1
    SLC37A4 99.90 1
    SLC3A1 99.98 1
    SLC41A1 99.98 1
    SLC4A1 99.94 1
    SLC4A4 99.97 1
    SLC7A9 99.97 1
    NHERF1 100.00 1
    SMARCAL1 99.97 1
    SOX17 100.00 1
    SRGAP1 99.68 1
    STRADA 99.98 1
    STX16 100.00 1
    SYNPO 100.00 1
    TBC1D1 99.96 1
    TBC1D8B 99.31 1
    TBX18 99.50 1
    TCTN1 99.92 1
    TCTN2 99.99 1
    TCTN3 99.92 1
    THBD 100.00 1
    TMEM107 100.00 1
    TMEM138 100.00 1
    TMEM216 99.98 1
    TMEM231 88.88 1
    TMEM237 99.30 1
    TMEM67 99.69 1
    TNFRSF25 99.98 1
    TNXB 90.86 1
    TP53RK 81.09 1
    TRAP1 100.00 1
    TRIM32 100.00 1
    TRPC6 99.99 1
    TRPM6 99.93 1
    TSC1 99.99 1
    TSC2 99.98 1
    TTC21B 99.50 1
    TTC8 99.67 1
    UMOD 99.98 1
    UPK3A 100.00 1
    UPK3B 99.62 1
    VDR 99.86 1
    VHL 100.00 1
    VIPAS39 99.87 1
    VPS33B 99.95 1
    WDPCP 99.87 1
    WDR19 99.80 1
    WDR35 99.92 1
    WDR4 99.95 1
    WDR73 99.92 1
    WNK1 99.98 1
    WNK4 99.98 1
    WNT4 99.94 1
    WT1 99.99 1
    XDH 99.97 1
    XPNPEP3 99.99 1
    XPO5 99.89 1
    YRDC 99.85 1
    ZMPSTE24 98.70 1
    ZMYM2 99.88 1
    ZNF423 98.94 1
  • Neurodegeneration with Brain Iron Accumulation (NBIA) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AP4M1 100.00 1
    ATP13A2 100.00 1
    C19ORF12 100.00 1
    COASY 100.00 1
    CP 100.00 1
    CRAT 100.00 1
    DCAF17 100.00 1
    DDHD1 100.00 1
    FA2H 100.00 1
    FTL 100.00 1
    GTPBP2 100.00 1
    PANK2 100.00 1
    PLA2G6 100.00 1
    SCP2 100.00 1
    WDR45 100.00 1
    REPS1 100.00 1
  • Neuromuscular disorders - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD5 99.98 1
    ACAD9 100.00 1
    ACADL 99.11 1
    ACADM 96.14 1
    ACADS 99.99 1
    ACADVL 100.00 1
    ACTA1 99.99 1
    ACTN2 99.99 1
    ACVR1 99.94 1
    ADCY6 99.98 1
    ADGRG6 99.91 1
    ADSS1 99.99 1
    AGL 97.67 1
    AGRN 99.99 1
    ALDOA 100.00 1
    ALG13 99.44 1
    ALG14 99.34 1
    ALG2 100.00 1
    AMPD1 98.94 1
    ANO5 99.85 1
    APOO 99.69 1
    ASAH1 99.90 1
    ASCC1 90.99 1
    ASPH 99.92 1
    ATP2A1 99.83 1
    B3GALNT2 92.79 1
    B4GAT1 100.00 1
    BAG3 100.00 1
    BET1 99.38 1
    BIN1 99.98 1
    BSCL2 99.99 1
    BVES 99.83 1
    CACNA1H 100.00 1
    CACNA1S 99.96 1
    CAPN3 99.99 1
    CASQ1 99.62 1
    CAV3 100.00 1
    CAVIN1 100.00 1
    CCDC78 100.00 1
    CFL2 99.67 1
    CHAT 99.74 1
    CHCHD10 100.00 1
    CHKB 100.00 1
    CHRNA1 99.82 1
    CHRNB1 99.99 1
    CHRND 100.00 1
    CHRNE 100.00 1
    CHRNG 100.00 1
    CLCN1 100.00 1
    CLN3 99.92 1
    CLPP 99.99 1
    CNTN1 99.35 1
    COL12A1 99.85 1
    COL13A1 99.95 1
    COL4A1 99.99 1
    COL6A1 99.99 1
    COL6A2 100.00 1
    COL6A3 99.99 1
    COL9A3 99.99 1
    COLQ 99.98 1
    CPT2 99.65 1
    CRPPA 99.98 1
    CRYAB 100.00 1
    DAG1 100.00 1
    DES 100.00 1
    DGUOK 99.93 1
    DHX16 99.98 1
    DMD 99.76 1
    DMPK 99.93 1
    DNAJB6 99.97 1
    DNM2 99.99 1
    DNMT3B 99.98 1
    DOK7 99.97 1
    DOLK 100.00 1
    DPAGT1 100.00 1
    DPM1 90.68 1
    DPM2 100.00 1
    DPM3 99.98 1
    DYSF 99.95 1
    ECEL1 100.00 1
    EMD 99.93 1
    ENO3 100.00 1
    EPG5 99.95 1
    ETFA 99.88 1
    ETFB 100.00 1
    ETFDH 99.82 1
    FAM111B 99.98 1
    FDX2 99.99 1
    CFH 99.97 1
    FKBP14 99.97 1
    FKRP 100.00 1
    FKTN 99.94 1
    FLAD1 99.98 1
    FLNC 99.99 1
    FXR1 99.82 1
    GAA 100.00 1
    GBE1 99.73 1
    GFER 100.00 1
    GFPT1 99.79 1
    GGPS1 99.95 1
    GLDN 99.98 1
    GLE1 99.99 1
    GMPPB 100.00 1
    GNE 99.99 1
    GOLGA2 100.00 1
    GOSR2 98.92 1
    GYG1 99.85 1
    GYS1 99.98 1
    HACD1 99.98 1
    HADHA 99.98 1
    HADHB 99.82 1
    HEXB 99.91 1
    HNRNPA1 62.92 1
    HNRNPA2B1 99.90 1
    HNRNPDL 99.98 1
    HRAS 100.00 1
    HSPB1 99.97 1
    HSPB3 99.97 1
    HSPB8 100.00 1
    HSPG2 99.87 1
    HTRA2 99.99 1
    INPP5K 99.94 1
    ISCU 99.74 1
    ITGA7 99.87 1
    KBTBD13 100.00 1
    KLHL40 99.96 1
    KLHL41 99.96 1
    KLHL9 100.00 1
    KY 99.97 1
    LAMA2 99.95 1
    LAMA5 99.99 1
    LAMB2 99.99 1
    LAMP2 98.95 1
    LARGE1 100.00 1
    LARS2 99.96 1
    LAS1L 99.97 1
    LDB3 99.91 1
    LDHA 99.94 1
    LGI4 99.98 1
    LIMS2 99.97 1
    LMNA 99.96 1
    LMOD3 99.91 1
    LOXL4 99.92 1
    LPIN1 99.96 1
    LRIF1 99.82 1
    CORIN 99.89 1
    MAP3K20 99.84 1
    MB 99.99 1
    MCOLN1 100.00 1
    MEGF10 99.91 1
    MET 99.97 1
    MICU1 99.56 1
    MPDU1 99.97 1
    MRPS25 99.97 1
    MSTN 99.96 1
    MSTO1 76.34 1
    MTM1 99.76 1
    MTMR14 99.99 1
    MUSK 99.93 1
    MYBPC1 99.77 1
    MYBPC3 99.98 1
    MYF5 99.99 1
    MYH7B 99.98 1
    MYH2 99.98 1
    MYH3 99.99 1
    MYH7 99.99 1
    MYH8 100.00 1
    MYL1 99.75 1
    MYL2 99.99 1
    MYMK 99.88 1
    MYO18B 99.98 1
    MYO9A 99.93 1
    MYOT 99.93 1
    MYPN 99.88 1
    NEB 87.33 1
    NEFL 100.00 1
    ORAI1 99.63 1
    PABPN1 99.99 1
    PAX7 99.83 1
    PEX6 99.99 1
    PFKM 99.57 1
    PGAM2 100.00 1
    PGK1 99.93 1
    PGM1 96.77 1
    PHKA1 99.84 1
    PHKB 99.69 1
    PIEZO2 98.45 1
    PLEC 100.00 1
    PNPLA2 100.00 1
    PNPLA8 99.92 1
    POGLUT1 99.99 1
    POLG 100.00 1
    POLG2 99.51 1
    POMGNT1 99.69 1
    POMGNT2 100.00 1
    POMK 100.00 1
    POMT1 99.96 1
    POMT2 99.98 1
    POPDC3 99.96 1
    PREPL 99.63 1
    PRKAG2 99.96 1
    PTRH2 99.99 1
    PUS1 100.00 1
    PYGM 99.96 1
    PYROXD1 99.77 1
    RAPSN 99.97 1
    RBCK1 100.00 1
    RRM2B 99.97 1
    RXYLT1 99.48 1
    RYR1 99.97 1
    RYR3 99.98 1
    SCN4A 99.98 1
    SELENON 93.61 1
    SGCA 100.00 1
    SGCB 99.95 1
    SGCD 100.00 1
    SGCG 99.99 1
    SIL1 99.95 1
    SLC16A1 99.26 1
    SLC18A3 99.99 1
    SLC22A5 99.99 1
    SLC25A1 99.93 1
    SLC25A20 100.00 1
    SLC25A4 100.00 1
    SLC25A42 99.99 1
    SLC5A7 99.57 1
    SMCHD1 99.83 1
    SMPX 99.80 1
    SNAP25 99.89 1
    SPEG 99.99 1
    SPTBN4 99.91 1
    SQSTM1 100.00 1
    STAC3 99.91 1
    STIM1 99.99 1
    SUCLA2 99.96 1
    SVIL 99.98 1
    SYNE1 99.95 1
    SYNE2 99.95 1
    SYT2 99.93 1
    TARDBP 100.00 1
    TCAP 100.00 1
    TFAM 99.24 1
    TIA1 99.72 1
    TIMM22 100.00 1
    TK2 99.96 1
    TMEM43 99.96 1
    TMEM65 99.93 1
    TNNC2 99.99 1
    TNNI2 99.99 1
    TNNT1 99.82 1
    TNNT3 100.00 1
    TNPO3 99.96 1
    TNXB 90.86 1
    TOR1AIP1 98.45 1
    TPM2 100.00 1
    TPM3 83.21 1
    TRAPPC11 99.93 1
    TRIM32 100.00 1
    TRIM54 89.88 1
    TRIP4 99.97 1
    TSEN54 100.00 1
    TSFM 100.00 1
    TTN 99.15 1
    TYMP 99.87 1
    UNC45B 100.00 1
    VAMP1 100.00 1
    VCP 99.99 1
    VMA21 99.90 1
    VPS33B 99.95 1
    YARS2 99.93 1
    ZBTB42 100.00 1
    ZC4H2 99.98 1
  • Neuropathy panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 99.99 1
    ABCA1 99.92 1
    ABHD12 99.98 1
    AGTPBP1 99.68 1
    AGXT 100.00 1
    AHNAK2 97.58 1
    AIFM1 99.92 1
    AMACR 100.00 1
    AP1S1 99.49 1
    APOA1 100.00 1
    APTX 99.92 1
    AR 99.76 1
    ARHGEF10 100.00 1
    ARSA 99.99 1
    ASAH1 99.90 1
    ASCC1 90.99 1
    ATAD3A 99.62 1
    ATL1 99.95 1
    ATL3 99.75 1
    ATM 99.83 1
    ATP1A1 98.41 1
    ATP7A 99.87 1
    B4GALNT1 99.97 1
    BAG3 100.00 1
    BCKDHB 99.73 1
    BICD2 99.99 1
    BSCL2 99.99 1
    CFAP276 98.35 1
    CCT5 99.99 1
    CD59 100.00 1
    CHCHD10 100.00 1
    CNTNAP1 99.98 1
    COA7 99.91 1
    COX6A1 99.98 1
    CPOX 99.99 1
    CTDP1 99.97 1
    CYP27A1 100.00 1
    DARS2 98.31 1
    DCAF8 99.83 1
    DCTN1 99.98 1
    DEGS1 99.99 1
    DGAT2 99.99 1
    DGUOK 99.93 1
    DHTKD1 99.95 1
    DNAJB2 99.97 1
    DNAJC3 99.92 1
    DNM2 99.99 1
    DNMT1 99.13 1
    DRP2 99.94 1
    DST 99.52 1
    DYNC1H1 99.99 1
    EGR2 100.00 1
    ELP1 99.96 1
    ERCC6 99.60 1
    ERCC8 99.79 1
    ETFDH 99.82 1
    EXOSC3 100.00 1
    EXOSC8 99.91 1
    EXOSC9 94.91 1
    FANCA 99.98 1
    HYCC1 99.81 1
    FBLN5 100.00 1
    FBXO38 99.96 1
    FGD4 99.87 1
    FIG4 99.83 1
    FLVCR1 99.91 1
    FXN 99.96 1
    GALC 99.92 1
    GAN 99.98 1
    GARS1 99.93 1
    GBA2 99.99 1
    GBF1 99.97 1
    GDAP1 99.98 1
    GJB1 100.00 1
    GJC2 100.00 1
    GLA 99.90 1
    GNB4 99.96 1
    GNE 99.99 1
    GSN 99.93 1
    HADHA 99.98 1
    HADHB 99.82 1
    HARS1 99.96 1
    HINT1 99.86 1
    HK1 99.97 1
    HMBS 99.97 1
    HSPB1 99.97 1
    HSPB3 99.97 1
    HSPB8 100.00 1
    IARS2 99.77 1
    IGHMBP2 99.92 1
    INF2 99.99 1
    ITPR3 99.98 1
    JAG1 100.00 1
    KARS1 99.98 1
    KCNA2 99.99 1
    KIF1A 99.96 1
    KIF1B 99.97 1
    KIF26B 100.00 1
    KIF5A 99.91 1
    LITAF 83.22 1
    LMNA 99.96 1
    LRSAM1 99.99 1
    LYST 99.87 1
    MARS1 99.97 1
    MCM3AP 99.98 1
    MFN2 99.98 1
    MICAL1 99.99 1
    MMACHC 99.98 1
    MME 97.17 1
    MORC2 100.00 1
    MPV17 99.98 1
    MPZ 99.99 1
    MTMR2 99.94 1
    MTRFR 99.87 1
    MTTP 99.92 1
    MYH7B 99.98 1
    NAGA 100.00 1
    NAGLU 100.00 1
    NDRG1 99.99 1
    NEFH 100.00 1
    NEFL 100.00 1
    NGF 100.00 1
    NMNAT2 99.79 1
    NTRK1 99.86 1
    MED12 99.95 1
    OPA3 100.00 1
    PDHA1 99.04 1
    PDK3 99.49 1
    PDYN 100.00 1
    PEX10 100.00 1
    PEX7 99.72 1
    PHYH 100.00 1
    PLEKHG5 99.99 1
    PLP1 99.98 1
    PMM2 99.93 1
    PMP2 99.93 1
    PMP22 100.00 1
    PNKP 100.00 1
    PNPLA6 99.99 1
    POLG 100.00 1
    POLG2 99.51 1
    POLR3A 99.97 1
    HCRT 99.85 1
    PRDM12 100.00 1
    PRKCG 99.99 1
    PRPS1 99.95 1
    PRUNE1 99.85 1
    PRX 99.99 1
    PTEN 99.89 1
    PTPN11 99.98 1
    PTRH2 99.99 1
    RAB7A 100.00 1
    RBM7 99.99 1
    REEP1 99.97 1
    RETREG1 99.99 1
    SACS 99.97 1
    SBF1 99.99 1
    SBF2 99.77 1
    SCARB2 99.99 1
    SCN10A 99.99 1
    SCN11A 99.94 1
    SCN9A 99.83 1
    SCO2 100.00 1
    SCYL1 100.00 1
    SEPTIN9 99.99 1
    SETX 99.97 1
    SGPL1 99.95 1
    SH3TC2 100.00 1
    SIGMAR1 99.99 1
    SLC12A6 99.98 1
    SLC25A19 99.99 1
    SLC25A21 99.98 1
    SLC25A46 99.88 1
    SLC52A2 100.00 1
    SLC52A3 99.94 1
    SLC5A7 99.57 1
    SMN1 7.60 1
    SMN2 6.68 1
    SORD 85.52 1
    SOX10 100.00 1
    SPAST 99.77 1
    SPG11 99.89 1
    SPG7 99.99 1
    SPTAN1 99.96 1
    SPTBN4 99.91 1
    SPTLC1 99.74 1
    SPTLC2 99.95 1
    SUCLA2 99.96 1
    SURF1 100.00 1
    TFG 98.68 1
    TRIM2 99.98 1
    TRIP4 99.97 1
    TRPA1 99.67 1
    TRPV4 100.00 1
    TTPA 99.88 1
    TTR 100.00 1
    TUBB3 100.00 1
    TWNK 100.00 1
    TYMP 99.87 1
    UBA1 99.93 1
    VAPB 100.00 1
    VCP 99.99 1
    VPS13A 99.68 1
    VRK1 99.98 1
    WARS1 99.97 1
    WNK1 99.98 1
    XK 99.98 1
    XPA 99.68 1
    XRCC1 99.96 1
    YARS1 99.29 1
    ZFYVE26 100.00 1
  • Ocular and oculocutaneous albinism - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    TYR 100.00 1
    OCA2 100.00 1
    TYRP1 100.00 0
    SLC45A2 100.00 0
    SLC24A5 100.00 0
    LRMDA 100.00 0
    GPR143 100.00 1
    DCT 100.00 0
  • Oculocutaneous albinism / Ocular albinism - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AHR 99.79 1
    AP3B1 99.89 1
    AP3D1 100.00 1
    BLOC1S3 100.00 1
    BLOC1S5 99.80 1
    BLOC1S6 99.98 1
    DCT 99.98 1
    DTNBP1 99.89 1
    EPG5 99.95 1
    FRMD7 99.97 1
    GPR143 99.60 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    LRMDA 99.87 1
    LYST 99.87 1
    MC1R 100.00 1
    MITF 99.98 1
    MLPH 100.00 1
    MYO5A 99.94 1
    OCA2 99.60 1
    PAX6 99.95 1
    RAB27A 99.94 1
    SLC24A5 99.99 1
    SLC38A8 99.99 1
    SLC45A2 100.00 1
    TYR 100.00 1
    TYRP1 99.97 1
  • Optic atrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACO2 99.99 1
    AFG3L2 99.97 1
    ATAD3A 99.62 1
    AUH 99.95 1
    C19ORF12 99.99 1
    CISD2 96.27 1
    DNAJC19 99.76 1
    DNAJC30 100.00 1
    DNM1L 99.40 1
    FDXR 99.99 1
    MCAT 99.99 1
    MECR 99.63 1
    MFF 99.97 1
    MFN2 99.98 1
    MTPAP 99.97 1
    MTRFR 99.87 1
    NBAS 99.86 1
    NDUFS1 99.79 1
    NDUFS2 99.66 1
    NR2F1 99.99 1
    MED12 99.95 1
    OPA3 100.00 1
    POLG 100.00 1
    RTN4IP1 99.98 1
    SLC25A46 99.88 1
    SLC44A1 99.90 1
    SLC52A2 100.00 1
    SPG7 99.99 1
    SSBP1 100.00 1
    TIMM8A 100.00 1
    TMEM126A 99.88 1
    TSFM 100.00 1
    WFS1 99.99 1
    YME1L1 99.87 1
    ZNHIT3 62.89 1
  • Osteogenesis imperfecta and Osteoporosis (43 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 100.00 1
    ALPL 100.00 1
    B3GALT6 100.00 1
    BMP1 100.00 1
    COL1A1 100.00 1
    COL1A2 100.00 1
    CREB3L1 100.00 1
    CRTAP 100.00 1
    FKBP10 100.00 1
    IFITM5 100.00 1
    P3H1 100.00 1
    LRP5 100.00 1
    LRP6 100.00 1
    MBTPS2 100.00 1
    MIA3 100.00 1
    NBAS 100.00 1
    P4HB 100.00 1
    PLOD2 100.00 1
    PLS3 100.00 1
    PPIB 100.00 1
    SEC16B 100.00 1
    SEC24D 100.00 1
    SERPINF1 100.00 1
    SERPINH1 100.00 1
    SP7 100.00 1
    SPARC 100.00 1
    TAPT1 100.00 1
    TENT5A 100.00 1
    WNT1 100.00 1
    TMEM38B 100.00 1
    LIFR 100.00 1
    ARF5 100.00 1
    BICDL1 100.00 1
    CCDC134 100.00 1
    COPB2 100.00 1
    KDELR2 100.00 1
    MESD 100.00 1
    PHEX 100.00 1
    SGMS2 100.00 1
    STX18 100.00 1
    SUCO 100.00 1
    WNT3A 100.00 1
    XYLT2 100.00 1
  • Paroxysmal Episodic disorders - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY5 99.98 1
    ATAD1 99.85 1
    ATP1A2 99.85 1
    ATP1A3 99.98 1
    BCKDHA 99.97 1
    BCKDHB 99.73 1
    CACNA1A 98.16 1
    CACNB4 99.20 1
    CEP290 98.10 1
    CHRNA4 100.00 1
    CHRNB2 99.99 1
    CNTNAP2 99.99 1
    COL4A1 99.99 1
    CRH 100.00 1
    CSNK1D 99.99 1
    DBT 94.51 1
    DEPDC5 99.18 1
    DLAT 99.65 1
    DLD 99.89 1
    DNMT1 99.13 1
    ECHS1 100.00 1
    FGF14 99.99 1
    GCH1 99.94 1
    GLRA1 100.00 1
    GLRB 99.79 1
    GNAO1 99.86 1
    KCNA1 100.00 1
    KCNK18 100.00 1
    KCNMA1 99.89 1
    KCNQ2 100.00 1
    KCNT1 99.98 1
    NOTCH3 99.99 1
    PDE10A 87.37 1
    PDHA1 99.04 1
    PDHX 99.64 1
    PNKD 100.00 1
    PRKN 99.99 1
    PRRT2 99.97 1
    SACS 99.97 1
    SCN1A 99.94 1
    SCN2A 99.86 1
    SCN4A 99.98 1
    SCN8A 99.77 1
    SETX 99.97 1
    SLC16A2 99.97 1
    SLC1A3 99.98 1
    SLC20A2 99.95 1
    SLC2A1 99.93 1
    SLC6A5 99.97 1
    TBC1D24 100.00 1
    TREX1 100.00 1
    UBR4 99.33 1
    VAMP2 100.00 1
  • Pediatric oncopredisposition - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 99.97 1
    ABCB11 99.86 1
    ACD 100.00 1
    AIP 99.99 1
    ALK 99.93 1
    APC 99.97 1
    ASXL1 100.00 1
    ATM 99.83 1
    RNF2 99.99 1
    BLM 99.80 1
    BMPR1A 99.58 1
    BRAF 99.78 1
    BRCA1 98.33 1
    BRCA2 99.99 1
    BRIP1 99.39 1
    BUB1B 100.00 1
    CBL 99.95 1
    CD27 99.95 1
    CD70 99.99 1
    CDC73 99.60 1
    CDH1 99.98 1
    CDK4 100.00 1
    CDKN1B 100.00 1
    CDKN1C 100.00 1
    CDKN2A 100.00 1
    CEBPA 100.00 1
    CEP57 99.92 1
    CREBBP 99.97 1
    CTC1 100.00 1
    CTLA4 99.99 1
    CTR9 99.98 1
    DDB2 100.00 1
    DICER1 99.96 1
    DIS3L2 99.90 1
    DKC1 99.59 1
    DNAJC21 99.67 1
    EFL1 99.83 1
    EGLN1 99.86 1
    EGLN2 99.97 1
    ELP1 99.96 1
    EPAS1 99.99 1
    EPCAM 99.89 1
    ERCC2 99.98 1
    ERCC3 99.90 1
    ERCC4 99.92 1
    ERCC5 99.99 1
    ERCC6L2 99.94 1
    ETV6 99.99 1
    EZH2 99.89 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
    FAS 99.99 1
    FBXW7 99.90 1
    FH 99.95 1
    GATA1 99.97 1
    GATA2 99.99 1
    GPC3 99.60 1
    GPC4 99.89 1
    GPR161 99.92 1
    HAVCR2 99.93 1
    HRAS 100.00 1
    IKZF1 99.92 1
    ITK 99.91 1
    KRAS 99.13 1
    L2HGDH 99.92 1
    LIG4 100.00 1
    LZTR1 99.46 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAX 99.96 1
    MDH2 99.54 1
    MDM4 99.43 1
    MEN1 99.98 1
    MLH1 99.64 1
    MRAS 99.97 1
    MSH2 99.23 1
    MSH6 99.97 1
    MYSM1 94.16 1
    NBN 99.93 1
    NF1 99.88 1
    NF2 100.00 1
    NHP2 99.96 1
    NOP10 99.99 1
    NRAS 99.66 1
    NSD1 99.98 1
    PALB2 99.71 1
    PARN 99.75 1
    PAX5 99.82 1
    PHOX2B 99.98 1
    PIK3CA 99.74 1
    PMS2 70.47 1
    POLD1 99.96 1
    POLE 99.99 1
    POLH 99.85 1
    POT1 99.91 1
    PPP1CB 99.89 1
    PRF1 100.00 1
    PRKAR1A 100.00 1
    PTCH1 99.99 1
    PTEN 99.89 1
    PTPN11 99.98 1
    RAF1 99.97 1
    RB1 99.84 1
    RECQL4 100.00 1
    REST 99.99 1
    RET 99.97 1
    RIT1 99.78 1
    RMRP 100.00 1
    RPL11 99.81 1
    RPL15 31.77 1
    RPL18 100.00 1
    RPL26 30.55 1
    RPL27 99.83 1
    RPL35 99.99 1
    RPL35A 97.55 1
    RPL5 28.81 1
    RPS10 0.00 1
    RPS15A 22.14 1
    RPS17 100.00 1
    RPS19 100.00 1
    RPS24 91.48 1
    RPS26 8.99 1
    RPS27 27.45 1
    RPS28 100.00 1
    RPS29 99.96 1
    RPS7 88.50 1
    RRAS 99.98 1
    RRAS2 99.94 1
    RTEL1 100.00 1
    RUNX1 100.00 1
    SAMD9 99.93 1
    SAMD9L 99.95 1
    SBDS 99.93 1
    SDHA 99.98 1
    SDHAF2 99.96 1
    SDHB 97.32 1
    SDHC 99.67 1
    SDHD 82.93 1
    SETBP1 100.00 1
    SH2D1A 98.98 1
    SHOC2 99.96 1
    SLX4 100.00 1
    SMARCA4 99.99 1
    SMARCB1 99.99 1
    SMARCE1 99.87 1
    SOS1 99.68 1
    SOS2 99.39 1
    SRP72 99.91 1
    STK11 100.00 1
    SUFU 100.00 1
    TERC 98.59 1
    TERT 100.00 1
    TINF2 100.00 1
    TMEM127 99.99 1
    TP53 99.98 1
    TRIM28 100.00 1
    TRIM37 98.19 1
    TRIP13 100.00 1
    TSC1 99.99 1
    TSC2 99.98 1
    TSR2 99.96 1
    UBE2T 99.89 1
    USB1 89.62 1
    VHL 100.00 1
    WAS 99.90 1
    WRAP53 100.00 1
    WT1 99.99 1
    XPA 99.68 1
    XPC 99.98 1
    SRP54 99.90 1
  • Pheochromocytoma - paraganglioma syndrome - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MAX 100.00 1
    RET 100.00 0
    SDHA 100.00 1
    SDHAF2 100.00 1
    SDHB 100.00 1
    SDHC 100.00 1
    SDHD 100.00 1
    TMEM127 100.00 1
    VHL 100.00 1
    SUCLG2 100.00 0
  • Primary immune deficiencies - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACD 100.00 1
    ACP5 100.00 1
    ACTB 100.00 1
    ADA 99.97 1
    ADA2 100.00 1
    ADAM17 99.94 1
    ADAR 99.84 1
    AICDA 99.94 1
    AIRE 99.95 1
    AK2 99.39 1
    ALPI 100.00 1
    AP1S3 100.00 1
    AP3B1 99.89 1
    AP3D1 100.00 1
    APOL1 99.99 1
    ARHGEF1 99.97 1
    ARPC1B 99.92 1
    ATG16L1 99.95 1
    ATG4A 99.86 1
    ATM 99.83 1
    ATP2A2 99.98 1
    ATP6AP1 100.00 1
    B2M 100.00 1
    BACH2 99.99 1
    BCL10 99.74 1
    BCL11B 100.00 1
    BLK 99.98 1
    BLM 99.80 1
    BLNK 99.90 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BTK 99.88 1
    C1QA 99.99 1
    C1QB 99.58 1
    C1QC 99.97 1
    C1R 99.99 1
    C1S 99.98 1
    C2 99.99 1
    C2orf69 99.97 1
    C3 100.00 1
    C4A 21.28 1
    C4BPA 99.95 1
    C5 99.92 1
    C6 99.97 1
    C7 99.94 1
    C8A 99.95 1
    C8B 99.37 1
    C8G 99.99 1
    C9 99.89 1
    CARD11 99.97 1
    CARD14 99.99 1
    CARD9 100.00 1
    CARMIL2 99.99 1
    CASP10 99.85 1
    CASP8 99.92 1
    CBL 99.95 1
    CCBE1 99.52 1
    CCDC28B 99.99 1
    CD19 99.98 1
    CD247 99.79 1
    CD27 99.95 1
    CD3D 100.00 1
    CD3E 100.00 1
    CD3G 100.00 1
    CD4 100.00 1
    CD40 100.00 1
    CD40LG 99.88 1
    CD46 99.86 1
    CD55 74.12 1
    CD59 100.00 1
    CD70 99.99 1
    CD79A 99.97 1
    CD79B 99.93 1
    CD81 99.97 1
    CD8A 99.97 1
    CDC42 98.05 1
    CDCA7 99.88 1
    CEBPE 100.00 1
    CFB 99.97 1
    CFD 99.99 1
    CFH 99.12 1
    CFHR1 84.44 1
    CFHR2 90.26 1
    CFHR3 91.62 1
    CFHR4 99.86 1
    CFHR5 99.68 1
    CFI 99.87 1
    CFP 99.96 1
    CFTR 99.45 1
    CHD7 99.99 1
    CIB1 99.92 1
    CIITA 99.99 1
    CLCN7 99.99 1
    CLEC7A 99.98 1
    CLPB 99.97 1
    COL7A1 99.99 1
    COPA 99.61 1
    CORO1A 91.71 1
    CPT2 99.65 1
    CR2 99.97 1
    CREBBP 99.97 1
    CSF2RA 93.86 1
    CSF2RB 100.00 1
    CSF3R 99.97 1
    CTC1 100.00 1
    CTLA4 99.99 1
    CTNNBL1 100.00 1
    CTPS1 98.63 1
    CTSC 99.97 1
    CXCR4 99.98 1
    CYBA 99.96 1
    CYBB 99.87 1
    CYBC1 100.00 1
    DBR1 99.92 1
    DCLRE1B 99.91 1
    DCLRE1C 99.79 1
    RIGI 99.84 1
    DEF6 100.00 1
    DGKE 99.10 1
    DHFR 98.89 1
    DKC1 99.59 1
    DNAJC21 99.67 1
    DNASE1 100.00 1
    DNASE1L3 99.90 1
    DNASE2 100.00 1
    DNMT3B 99.98 1
    DOCK2 100.00 1
    DOCK8 99.86 1
    DOK3 99.95 1
    DTNBP1 99.89 1
    EFL1 99.83 1
    ELANE 100.00 1
    ELF4 99.97 1
    EPG5 99.95 1
    ERBIN 99.69 1
    ERCC6L2 99.94 1
    EXTL3 99.99 1
    F12 99.99 1
    FAAP24 99.95 1
    FADD 99.97 1
    FAS 99.99 1
    FASLG 99.84 1
    FAT4 99.98 1
    FCGR2B 70.97 1
    FCGR3A 99.93 1
    FCGR3B 95.51 1
    FCHO1 99.99 1
    FCN3 99.48 1
    FERMT1 99.90 1
    FERMT3 99.99 1
    FNIP1 99.87 1
    FOXN1 99.97 1
    FOXP3 99.93 1
    FPR1 100.00 1
    G6PC3 99.98 1
    G6PD 99.97 1
    GATA1 99.97 1
    GATA2 99.99 1
    GFI1 99.88 1
    GIMAP5 100.00 1
    GINS1 99.99 1
    GUCY2C 99.90 1
    HAVCR2 99.93 1
    HAX1 100.00 1
    HELLS 99.78 1
    HMOX1 99.95 1
    HPS1 100.00 1
    HPS4 99.98 1
    HPS6 100.00 1
    HTRA2 99.99 1
    HYOU1 99.97 1
    ICOS 99.95 1
    ICOSLG 5.95 1
    IFIH1 99.84 1
    IFNAR1 99.75 1
    IFNAR2 89.62 1
    IFNG 99.50 1
    IFNGR1 99.87 1
    IFNGR2 99.95 1
    IGHM 100.00 1
    IGKC 99.99 1
    IGLL1 100.00 1
    IKBKB 99.93 1
    IKBKG 57.34 1
    IKZF1 99.92 1
    IL10 100.00 1
    IL10RA 99.99 1
    IL10RB 99.99 1
    IL12B 99.98 1
    IL12RB1 94.11 1
    IL12RB2 97.66 1
    IL15RA 99.96 1
    IL17F 99.99 1
    IL17RA 100.00 1
    IL17RC 100.00 1
    IL18 99.85 1
    IL18BP 99.99 1
    IL1RL1 99.76 1
    IL1RN 99.64 1
    IL21 99.95 1
    IL21R 99.70 1
    IL23R 97.64 1
    IL2RA 99.99 1
    IL2RB 100.00 1
    IL2RG 99.86 1
    IL36RN 100.00 1
    IL6R 92.46 1
    IL6ST 99.88 1
    IL7R 99.99 1
    ILRUN 100.00 1
    INO80 99.96 1
    IRAK1 99.98 1
    IRAK4 98.85 1
    IRF2BP2 100.00 1
    IRF3 99.96 1
    IRF4 99.99 1
    IRF7 100.00 1
    IRF8 99.99 1
    IRF9 100.00 1
    ISG15 100.00 1
    ITCH 95.57 1
    ITGB2 100.00 1
    ITK 99.91 1
    ITPKB 99.99 1
    IVNS1ABP 99.24 1
    JAGN1 100.00 1
    JAK1 99.32 1
    JAK3 99.99 1
    KDM6A 99.74 1
    KMT2A 99.97 1
    KMT2D 99.98 1
    KRAS 99.13 1
    LACC1 99.99 1
    LAMTOR2 99.92 1
    LAT 99.85 1
    LCK 99.56 1
    LCP2 99.58 1
    LIG1 99.93 1
    LIG4 100.00 1
    LIPA 99.96 1
    LPIN2 100.00 1
    LRBA 99.76 1
    LRRC8A 100.00 1
    LSM11 100.00 1
    LYST 99.87 1
    MAGT1 99.54 1
    MALT1 99.71 1
    MAN2B1 99.99 1
    MAP1LC3B2 100.00 1
    MAP3K14 99.98 1
    MAPK8 99.64 1
    MASP1 99.99 1
    MASP2 99.95 1
    MBL2 99.93 1
    MCM10 99.99 1
    MCM4 99.96 1
    MEFV 100.00 1
    MOGS 100.00 1
    MPEG1 100.00 1
    MPO 99.97 1
    MRE11 99.93 1
    MRTFA 92.99 1
    MS4A1 99.60 1
    MSH6 99.97 1
    MSN 99.98 1
    MTHFD1 100.00 1
    MVK 99.97 1
    MYD88 99.99 1
    MYO5B 100.00 1
    MYSM1 94.16 1
    NBAS 99.86 1
    NBN 99.93 1
    NCF1 57.22 1
    NCF2 99.85 1
    NCF4 100.00 1
    NCKAP1L 99.77 1
    NCSTN 99.82 1
    NFAT5 99.93 1
    NFE2L2 99.97 1
    NFKB1 99.80 1
    NFKB2 99.98 1
    NFKBIA 99.99 1
    NHEJ1 99.91 1
    NHP2 99.96 1
    NKX2-5 99.75 1
    NLRC4 99.95 1
    NLRP1 95.26 1
    NLRP12 99.99 1
    NLRP3 100.00 1
    NLRP7 99.99 1
    NOD2 99.98 1
    NOP10 99.99 1
    NOS2 96.11 1
    NPC1 99.99 1
    NRAS 99.66 1
    NSMCE3 100.00 1
    OAS1 99.96 1
    ORAI1 99.63 1
    OSTM1 99.56 1
    OTULIN 99.95 1
    PARN 99.75 1
    PAX1 100.00 1
    PCCA 99.90 1
    PCCB 99.97 1
    PEPD 99.98 1
    PGM3 99.94 1
    PIK3CD 99.99 1
    PIK3CG 99.72 1
    PIK3R1 99.86 1
    PLCG2 99.99 1
    PLEKHM1 99.77 1
    PLG 99.89 1
    PMS2 70.47 1
    PNP 100.00 1
    POLA1 99.57 1
    POLD1 99.96 1
    POLD2 99.95 1
    POLE 99.99 1
    POLE2 99.87 1
    POLR3A 99.97 1
    POLR3C 99.89 1
    POLR3F 99.97 1
    NT5C3A 99.95 1
    PRF1 100.00 1
    PRIM1 99.07 1
    PRKCD 99.96 1
    PRKDC 99.93 1
    PSEN1 100.00 1
    PSENEN 100.00 1
    PSMA3 99.96 1
    PSMB10 99.98 1
    PSMB4 99.83 1
    PSMB8 99.96 1
    PSMB9 99.68 1
    PSMG2 99.98 1
    PSTPIP1 99.91 1
    PSTPIP2 99.98 1
    PTEN 99.89 1
    PTPN11 99.98 1
    PTPN2 99.98 1
    PTPN6 100.00 1
    PTPRC 93.90 1
    RAB27A 99.94 1
    RAC2 99.99 1
    RAG1 100.00 1
    RAG2 100.00 1
    RANBP2 99.37 1
    RASGRP1 100.00 1
    RBCK1 100.00 1
    RC3H1 99.22 1
    RECQL4 100.00 1
    REL 96.99 1
    RELA 99.99 1
    RELB 99.97 1
    RFX5 99.88 1
    RFXANK 100.00 1
    RFXAP 99.98 1
    RHOH 99.99 1
    RIPK1 99.93 1
    RMRP 100.00 1
    RNASEH2A 99.95 1
    RNASEH2B 99.94 1
    RNASEH2C 99.99 1
    RNF168 99.97 1
    RNF31 100.00 1
    RORC 99.42 1
    RPSA 0.00 1
    RTEL1 100.00 1
    SAMD9 99.93 1
    SAMD9L 99.95 1
    SAMHD1 99.98 1
    SASH3 99.99 1
    SBDS 99.93 1
    SDHA 99.98 1
    SEC61A1 99.99 1
    SEMA3E 99.13 1
    SERPING1 100.00 1
    SGPL1 99.95 1
    SH2D1A 98.98 1
    SH3BP2 100.00 1
    SH3KBP1 99.95 1
    SKIC2 99.98 1
    SLC11A1 99.99 1
    SLC29A3 99.98 1
    SLC35C1 100.00 1
    SLC37A4 99.90 1
    SLC39A7 100.00 1
    SLC46A1 100.00 1
    SLC7A7 99.99 1
    SLC9A3 100.00 1
    SMARCAL1 99.97 1
    SMARCD2 99.99 1
    SNX10 99.96 1
    SOCS1 99.98 1
    SOCS4 99.92 1
    PMP22 99.99 1
    SPI1 99.81 1
    SPINK5 99.91 1
    SPPL2A 99.88 1
    SRP54 99.83 1
    SRP72 99.91 1
    STAT1 99.83 1
    STAT2 99.89 1
    STAT3 99.97 1
    STAT4 99.77 1
    STAT5B 99.50 1
    STAT6 99.87 1
    STIM1 99.99 1
    STING1 99.87 1
    STK4 99.91 1
    STN1 99.88 1
    STX11 100.00 1
    STXBP2 100.00 1
    STXBP3 85.74 1
    SYK 99.96 1
    TAFAZZIN 99.98 1
    TAP1 99.97 1
    TAP2 99.94 1
    TAPBP 99.98 1
    TBK1 99.07 1
    TBX1 99.95 1
    TBX21 99.99 1
    TCF3 100.00 1
    TCIRG1 99.99 1
    TCN2 100.00 1
    TERC 98.59 1
    TERT 100.00 1
    TET2 99.99 1
    TFRC 99.87 1
    TGFB1 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    THBD 100.00 1
    TICAM1 99.99 1
    TINF2 100.00 1
    TIRAP 100.00 1
    TLR3 99.99 1
    TLR4 99.99 1
    TLR7 99.98 1
    TMC6 100.00 1
    TMC8 99.92 1
    TNFAIP3 99.94 1
    TNFRSF11A 100.00 1
    TNFRSF13B 99.43 1
    TNFRSF13C 99.99 1
    TNFRSF1A 100.00 1
    TNFRSF4 100.00 1
    TNFRSF9 99.99 1
    TNFSF11 99.89 1
    TNFSF12 100.00 1
    TNFSF13 100.00 1
    TOP2B 99.72 1
    TPP2 99.89 1
    TRAC 100.00 1
    TRAF3 99.97 1
    TRAF3IP2 100.00 1
    TREX1 100.00 1
    TRIM22 100.00 1
    TRNT1 99.97 1
    SKIC3 99.82 1
    TTC7A 99.77 1
    TYK2 99.99 1
    UBA1 99.93 1
    UNC119 100.00 1
    UNC13D 100.00 1
    UNC93B1 99.75 1
    UNG 100.00 1
    USB1 89.62 1
    USP18 93.05 1
    VAV1 99.99 1
    VPS13B 99.90 1
    VPS45 93.94 1
    WAS 99.90 1
    WDR1 99.99 1
    WIPF1 99.87 1
    WRAP53 100.00 1
    XBP1 99.99 1
    XIAP 99.36 1
    ZAP70 99.95 1
    ZBTB24 99.99 1
    ZNF341 100.00 1
    ZNFX1 99.99 1
  • Progressive Myoclonic Epilepsy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ASAH1 99.90 1
    ATP13A2 99.96 1
    BSCL2 99.99 1
    CACNA1A 98.16 1
    CERS1 100.00 1
    CLN3 99.92 1
    CLN5 100.00 1
    CLN6 100.00 1
    CLN8 100.00 1
    CSTB 100.00 1
    CTSD 100.00 1
    CTSF 99.96 1
    DNAJC5 99.99 1
    EPM2A 99.99 1
    FARS2 100.00 1
    GBA1 96.92 1
    GOSR2 98.92 1
    GRN 100.00 1
    KCNC1 100.00 1
    KCTD7 99.98 1
    KIF5A 99.91 1
    LMNB2 99.99 1
    MFSD8 99.70 1
    MTFMT 99.98 1
    NEU1 99.98 1
    NHLRC1 100.00 1
    PPT1 97.48 1
    PRICKLE1 99.87 1
    PRNP 100.00 1
    SACS 99.97 1
    SCARB2 99.99 1
    SERPINI1 99.98 1
    TBC1D24 100.00 1
    ACD 99.99 1
  • Prostate cancer - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1 100.00 1
    BRCA2 100.00 1
    HOXB13 100.00 0
    CHEK2 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    ATM 100.00 1
  • Pseudoxanthoma Elasticum - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC6 100.00 1
    ENPP1 100.00 1
    GGCX 100.00 1
    VEGFA 100.00 1
    CYP2U1 100.00 1
  • Renal cell carcinoma - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BAP1 100.00 1
    FH 100.00 0
    FLCN 100.00 1
    MAX 100.00 1
    MET 100.00 0
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    PMS2 100.00 1
    PTEN 100.00 1
    RET 100.00 0
    SDHA 100.00 1
    SDHB 100.00 1
    SDHC 100.00 1
    SDHD 100.00 1
    TMEM127 100.00 1
    VHL 100.00 1
    TSC1 100.00 0
    TSC2 100.00 0
    HNF1B 100.00 0
    PBRM1 100.00 0
  • Respiratory Disorders panel (137 genes) - Ugent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 99.96 1
    ABCC8 99.98 1
    ACVRL1 99.88 1
    AP3B1 99.89 1
    AQP1 99.99 1
    ARHGEF1 99.97 1
    ASAH1 99.90 1
    ASCL1 99.82 1
    ATP13A3 99.84 1
    ATP6AP1 100.00 1
    BDNF 100.00 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BMP10 99.96 1
    BMPR1B 99.61 1
    BMPR2 99.95 1
    CARD11 99.97 1
    CAV1 99.97 1
    CCDC39 99.74 1
    CCDC40 100.00 1
    CD19 99.98 1
    CD81 99.97 1
    CIITA 99.99 1
    CLEC1A 99.97 1
    CLEC7A 99.98 1
    COPA 99.61 1
    CR2 99.97 1
    CSF2RA 93.86 1
    CSF2RB 100.00 1
    CTLA4 99.99 1
    CTNNBL1 100.00 1
    DKC1 99.59 1
    DNAAF1 99.99 1
    DNAAF2 99.91 1
    DNAH11 99.93 1
    DNAH5 99.98 1
    DNAI1 99.92 1
    DNAI2 99.86 1
    DNAH9 99.79 1
    DOCK8 99.86 1
    DTNBP1 99.89 1
    EFEMP2 99.94 1
    EIF2AK4 99.97 1
    ELMOD2 99.80 1
    ELN 99.86 1
    ENG 100.00 1
    ERBIN 99.69 1
    FAM111B 99.98 1
    FARSA 100.00 1
    FARSB 99.64 1
    FBLN5 100.00 1
    FLNA 99.99 1
    FNIP1 99.87 1
    FOXF1 99.99 1
    FOXP3 99.93 1
    GARS1 99.93 1
    GATA2 99.99 1
    GBA1 96.92 1
    GDF2 100.00 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    IKZF1 99.92 1
    IL6R 92.46 1
    IL6ST 99.88 1
    IRF2BP2 100.00 1
    ITCH 95.57 1
    ITGA3 99.86 1
    KCNA5 100.00 1
    KCNK3 100.00 1
    KDR 99.86 1
    LRBA 99.76 1
    LTBP4 99.99 1
    MARS1 99.97 1
    MOGS 100.00 1
    MS4A1 99.60 1
    MUC5B 99.94 1
    NFKB1 99.80 1
    NFKB2 99.98 1
    NKX2-1 100.00 1
    NME8 99.83 1
    NOD2 99.98 1
    NOTCH3 99.99 1
    NSMCE3 100.00 1
    OAS1 99.96 1
    PARN 99.75 1
    PGM3 99.94 1
    PIK3CD 99.99 1
    PIK3CG 99.72 1
    PIK3R1 99.86 1
    POU2AF1 99.43 1
    PTEN 99.89 1
    RAC2 99.99 1
    RFX5 99.88 1
    RFXANK 100.00 1
    RFXAP 99.98 1
    RGPD4 71.96 1
    RSPH4A 99.95 1
    RSPH9 99.99 1
    RTEL1 100.00 1
    SCNN1A 100.00 1
    SCNN1B 99.38 1
    SCNN1G 99.94 1
    SEC61A1 99.99 1
    SERPINA1 100.00 1
    SFTPA1 99.99 1
    SFTPA2 99.81 1
    SFTPB 99.99 1
    SFTPC 99.99 1
    SFTPD 99.62 1
    SH3KBP1 99.95 1
    SLC34A2 99.99 1
    SLC7A7 99.99 1
    SMAD4 99.97 1
    SMAD9 99.99 1
    SMPD1 100.00 1
    SOX17 100.00 1
    SPINK5 99.91 1
    STAT3 99.97 1
    STAT5B 99.50 1
    STING1 99.87 1
    TBX4 99.96 1
    TERC 98.59 1
    TERT 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TINF2 100.00 1
    TNFRSF13B 99.43 1
    TNFRSF13C 99.99 1
    TNFSF12 100.00 1
    TNFSF13 100.00 1
    TRNT1 99.97 1
    TSC1 99.99 1
    TSC2 99.98 1
    ZNF341 100.00 1
  • Retinal dystrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA4 99.30 1
    ABCC6 98.57 1
    ABHD12 99.98 1
    ACBD5 99.97 1
    ACO2 99.99 1
    ADAM9 99.89 1
    ADAMTS18 99.99 1
    ADGRA3 99.90 1
    ADGRV1 99.80 1
    ADIPOR1 99.83 1
    AFG3L2 99.97 1
    AGBL5 99.98 1
    AHI1 99.86 1
    AHR 99.79 1
    AIPL1 100.00 1
    ALMS1 99.90 1
    ARHGEF18 99.97 1
    ARL2BP 99.89 1
    ARL3 99.98 1
    ARL6 99.90 1
    ARMS2 100.00 1
    ARSG 100.00 1
    ASRGL1 99.84 1
    ATF6 98.19 1
    ATXN7 99.98 1
    BBIP1 99.99 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
    BEST1 99.86 1
    MFRP 100.00 1
    C2 99.99 1
    C3 100.00 1
    CA4 100.00 1
    CABP4 100.00 1
    CACNA1F 99.94 1
    CACNA2D4 99.99 1
    CAPN5 99.88 1
    CC2D2A 99.95 1
    CCT2 98.46 1
    CDH23 99.95 1
    CDH3 99.98 1
    CDHR1 99.72 1
    CEP164 99.99 1
    CEP19 99.99 1
    CEP250 99.93 1
    CEP290 98.10 1
    CEP78 99.95 1
    CERKL 99.91 1
    CFAP410 100.00 1
    CFAP418 100.00 1
    CFB 99.97 1
    CFH 99.12 1
    CHM 96.46 1
    CIB2 100.00 1
    CLCC1 93.17 1
    CLN3 99.92 1
    CLRN1 99.99 1
    CLUAP1 99.95 1
    CNGA1 99.60 1
    CNGA3 99.95 1
    CNGB1 97.53 1
    CNGB3 99.96 1
    CNNM4 99.93 1
    COL11A1 90.72 1
    COL2A1 99.87 1
    COL9A1 99.91 1
    CRB1 99.73 1
    CRX 99.96 1
    CSPP1 98.31 1
    CTNNA1 99.98 1
    CWC27 99.67 1
    CYP4V2 99.98 1
    DHDDS 98.65 1
    DHX38 99.97 1
    DMD 99.76 1
    DRAM2 96.06 1
    DTHD1 99.92 1
    DYNC2H1 99.66 1
    EFEMP1 99.68 1
    ELOVL1 100.00 1
    ELOVL4 99.91 1
    EMC1 99.85 1
    ERCC6 99.60 1
    ESPN 100.00 1
    EXOSC2 100.00 1
    EYS 99.86 1
    FAM161A 99.77 1
    FBLN5 100.00 1
    FBN2 99.90 1
    FLVCR1 99.91 1
    FSCN2 100.00 1
    FZD4 100.00 1
    GDF6 100.00 1
    GNAT1 100.00 1
    GNAT2 99.87 1
    GNB3 100.00 1
    GNPTG 100.00 1
    GPR179 99.99 1
    GRID2 99.97 1
    GRK1 99.99 1
    GRM6 100.00 1
    GUCA1A 100.00 1
    GUCA1B 99.99 1
    GUCY2D 100.00 1
    HARS1 99.96 1
    HGSNAT 99.93 1
    HK1 99.97 1
    HMCN1 99.44 1
    HMX1 100.00 1
    HTRA1 100.00 1
    IDH3A 99.98 1
    IDH3B 100.00 1
    IFT140 100.00 1
    IFT172 99.98 1
    IFT27 100.00 1
    IFT43 99.97 1
    IFT81 94.64 1
    IFT88 98.26 1
    IMPDH1 92.77 1
    IMPG1 99.93 1
    IMPG2 99.97 1
    INPP5E 99.85 1
    INVS 99.94 1
    IQCB1 99.72 1
    ITM2B 99.85 1
    JAG1 100.00 1
    KCNJ13 99.99 1
    KCNV2 99.97 1
    KIAA1549 99.98 1
    KIF11 99.84 1
    KIF3B 99.99 1
    KIZ 99.98 1
    KLHL7 99.95 1
    LAMA1 99.98 1
    LAMB2 99.99 1
    LCA5 99.89 1
    LRAT 100.00 1
    LRIT3 100.00 1
    LRP5 99.95 1
    LZTFL1 100.00 1
    MAK 99.47 1
    MAPKAPK3 99.97 1
    MERTK 98.90 1
    MFN2 99.98 1
    MFSD8 99.70 1
    MIR204 100.00 1
    MKKS 100.00 1
    MKS1 99.92 1
    MTRFR 99.87 1
    MTTP 99.92 1
    MVK 99.97 1
    MYO7A 99.96 1
    NBAS 99.86 1
    NDP 99.98 1
    NEK2 95.09 1
    NEUROD1 100.00 1
    NMNAT1 99.93 1
    NPHP1 99.05 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NR2E3 100.00 1
    NR2F1 99.99 1
    NRL 100.00 1
    NYX 100.00 1
    OAT 90.17 1
    OFD1 99.68 1
    MED12 99.95 1
    OPA3 100.00 1
    OPN1LW 71.75 1
    OPN1MW 30.23 1
    OPN1SW 99.97 1
    OTX2 100.00 1
    PANK2 99.99 1
    PAX2 99.99 1
    PCARE 100.00 1
    PCDH15 99.71 1
    PCYT1A 100.00 1
    PDE6A 99.98 1
    PDE6B 100.00 1
    PDE6C 99.91 1
    PDE6G 100.00 1
    PDE6H 99.97 1
    PDZD7 98.09 1
    PEX1 98.80 1
    PEX2 100.00 1
    PEX6 99.99 1
    PEX7 99.72 1
    PGK1 99.93 1
    PHYH 100.00 1
    PITPNM3 99.98 1
    PLA2G5 99.91 1
    PLK4 99.89 1
    PNPLA6 99.99 1
    POC1B 100.00 1
    POC5 99.85 1
    POMGNT1 99.69 1
    PRCD 100.00 1
    PRDM13 99.99 1
    PROM1 99.97 1
    PRPF3 99.73 1
    PRPF31 99.99 1
    PRPF4 99.96 1
    PRPF6 99.98 1
    PRPF8 99.98 1
    PRPH2 99.98 1
    PRPS1 99.95 1
    RAB28 99.97 1
    RAX2 100.00 1
    RB1 99.84 1
    RBP3 99.99 1
    RBP4 99.99 1
    RCBTB1 99.99 1
    RD3 100.00 1
    RDH11 99.99 1
    RDH12 99.98 1
    RDH5 100.00 1
    REEP6 100.00 1
    RGR 99.79 1
    RGS9BP 100.00 1
    RHO 100.00 1
    RIMS1 99.85 1
    RIMS2 99.97 1
    RLBP1 99.99 1
    ROM1 100.00 1
    MAPRE2 99.98 1
    RP1L1 100.00 1
    RP2 99.58 1
    RP9 99.83 1
    RPE65 98.99 1
    RPGR 94.45 1
    RPGRIP1 99.95 1
    RPGRIP1L 96.35 1
    RS1 99.92 1
    RTN4IP1 99.98 1
    SAG 99.98 1
    SAMD11 100.00 1
    SAMD7 99.99 1
    SCAPER 99.75 1
    SCLT1 95.17 1
    SDCCAG8 100.00 1
    SEMA4A 99.81 1
    SF3B2 99.98 1
    SLC24A1 99.92 1
    SLC25A46 99.88 1
    SLC6A6 99.98 1
    SLC7A14 99.99 1
    SNRNP200 99.60 1
    SPATA7 99.80 1
    GPKOW 100.00 1
    TEAD1 99.97 1
    TIMM8A 100.00 1
    TIMP3 100.00 1
    TLR3 99.99 1
    TLR4 99.99 1
    TMEM126A 99.88 1
    TMEM216 99.98 1
    TMEM237 99.30 1
    TOPORS 99.99 1
    TREX1 100.00 1
    TRIM32 100.00 1
    TRNT1 99.97 1
    TRPM1 99.96 1
    TSPAN12 99.89 1
    TTC8 99.67 1
    TTLL5 99.95 1
    TTPA 99.88 1
    TUB 100.00 1
    TUBGCP4 99.80 1
    TUBGCP6 100.00 1
    TULP1 99.99 1
    UNC119 100.00 1
    USH1C 99.99 1
    USH1G 100.00 1
    USH2A 99.88 1
    VCAN 99.99 1
    WDPCP 99.87 1
    WDR19 99.80 1
    WFS1 99.99 1
    WHRN 99.96 1
    ZNF408 99.99 1
    ZNF423 98.94 1
    ZNF513 99.97 1
  • Retinitis pigmentosa, X-linked - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    RPGR 100.00 1
    RP2 100.00 1
    OFD1 100.00 0
  • 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
  • Skin disorders - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 99.88 1
    AAGAB 100.00 1
    ABCA12 99.94 1
    ABCB6 99.97 1
    ABHD5 99.98 1
    ADAM10 99.88 1
    ADAR 99.84 1
    ADGRE2 98.77 1
    ALDH3A2 99.95 1
    ALOX12B 100.00 1
    ALOXE3 99.98 1
    ALX4 100.00 1
    ANTXR1 99.83 1
    ANTXR2 99.67 1
    AP1S1 99.49 1
    AP3B1 99.89 1
    AP3D1 100.00 1
    APCDD1 99.99 1
    AQP5 99.88 1
    ARHGAP31 100.00 1
    ARSL 99.93 1
    ATP2A2 99.98 1
    ATP6V1B2 99.99 1
    ATP7A 99.87 1
    AXIN2 100.00 1
    BANF1 99.84 1
    BCS1L 99.99 1
    BLM 99.80 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BMS1 85.80 1
    BRAF 99.78 1
    C1QA 99.99 1
    C1QB 99.58 1
    C1QC 99.97 1
    C5 99.92 1
    CARD11 99.97 1
    CARD14 99.99 1
    CASP10 99.85 1
    CASP14 99.86 1
    CASP8 99.92 1
    CAST 99.94 1
    CBL 99.95 1
    CD151 100.00 1
    CDH1 99.98 1
    CDH3 99.98 1
    CDKN1B 100.00 1
    CDKN1C 100.00 1
    CDSN 99.94 1
    CERS3 99.85 1
    CHST8 100.00 1
    CHUK 99.83 1
    CLDN1 99.99 1
    CLDN10 99.97 1
    COG6 99.86 1
    COL17A1 99.98 1
    COL18A1 99.99 1
    COL7A1 99.99 1
    COX7B 99.86 1
    CYP11B1 100.00 1
    CSTB 99.99 1
    CSTA 99.83 1
    CTLA4 99.99 1
    CTSC 99.97 1
    CYLD 99.46 1
    CYP11A1 99.99 1
    CYP21A2 99.85 1
    CYP26C1 99.92 1
    CYP4F22 99.97 1
    DCAF17 99.84 1
    DCLRE1C 99.79 1
    DCPS 99.98 1
    DDB2 100.00 1
    DHCR24 99.93 1
    DIP2B 99.65 1
    DKC1 99.59 1
    DLL4 100.00 1
    DOCK6 100.00 1
    DOCK8 99.86 1
    DPH1 100.00 1
    DSC3 99.73 1
    DSG1 99.35 1
    DSG3 99.97 1
    DSG4 99.91 1
    DSP 100.00 1
    DST 99.52 1
    DSTYK 99.83 1
    DTNBP1 99.89 1
    GLB1 99.92 1
    EDA 99.44 1
    EDAR 99.89 1
    EDARADD 99.98 1
    EDN3 100.00 1
    EDNRA 99.97 1
    EDNRB 99.99 1
    ELOVL4 99.91 1
    ENPP1 99.88 1
    EOGT 99.09 1
    EPG5 99.95 1
    ERCC2 99.98 1
    ERCC3 99.90 1
    ERCC4 99.92 1
    ERCC5 99.99 1
    ERCC6 99.60 1
    ERCC8 99.79 1
    EVC 99.95 1
    EVC2 99.97 1
    EXPH5 99.81 1
    F12 99.99 1
    FAM111B 99.98 1
    FAS 99.99 1
    FASLG 99.84 1
    FECH 99.98 1
    FERMT1 99.90 1
    FGFR1 98.88 1
    FGFR3 100.00 1
    FOXN1 99.97 1
    FZD6 99.95 1
    GBA1 96.92 1
    GINS1 99.99 1
    GJA1 100.00 1
    GJB2 100.00 1
    GJB3 99.99 1
    GJB4 100.00 1
    GJB6 100.00 1
    GPR143 99.60 1
    GREM2 100.00 1
    GRHL2 100.00 1
    GRIN2B 99.99 1
    GTF2E2 100.00 1
    GTF2H5 100.00 1
    HCCS 99.90 1
    HOXC13 99.98 1
    HPGD 99.98 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    HR 99.95 1
    HRAS 100.00 1
    HSPA9 99.96 1
    IFT122 99.98 1
    IFT43 99.97 1
    IKBKG 57.34 1
    IL2RA 99.99 1
    IL31RA 100.00 1
    ITGA3 99.86 1
    ITGA6 99.78 1
    ITGB4 99.99 1
    ITPR2 99.13 1
    JUP 99.94 1
    KCNH1 99.92 1
    KCTD1 99.99 1
    KDF1 99.86 1
    KDSR 99.99 1
    KEAP1 100.00 1
    KIT 99.86 1
    KITLG 99.46 1
    KLHL24 99.90 1
    KRAS 99.13 1
    KREMEN1 99.88 1
    KRT1 99.89 1
    KRT10 100.00 1
    KRT13 99.98 1
    KRT14 99.99 1
    KRT16 100.00 1
    KRT17 100.00 1
    KRT2 99.88 1
    KRT3 99.89 1
    KRT5 99.98 1
    KRT6A 100.00 1
    KRT6B 99.95 1
    KRT6C 96.59 1
    KRT7 99.87 1
    KRT74 99.92 1
    KRT83 100.00 1
    KRT85 99.97 1
    KRT9 100.00 1
    LAMA4 99.90 1
    LAMB3 99.99 1
    LAMC2 99.54 1
    LBR 99.66 1
    LIPH 99.99 1
    LIPN 99.94 1
    LMNA 99.96 1
    LMNB2 99.99 1
    LORICRIN 100.00 1
    LPAR6 99.99 1
    LRMDA 99.87 1
    LRP1 99.94 1
    LYST 99.87 1
    LZTR1 99.46 1
    MBTPS2 99.81 1
    MC1R 100.00 1
    MC2R 100.00 1
    MC4R 100.00 1
    MCM4 99.96 1
    MEN1 99.98 1
    MITF 99.98 1
    MLPH 100.00 1
    MMP1 99.99 1
    MPDU1 99.97 1
    MPLKIP 99.99 1
    MSX1 100.00 1
    MYO5A 99.94 1
    NECTIN1 99.99 1
    NECTIN4 99.97 1
    NF1 99.88 1
    NFKBIA 99.99 1
    NIPAL4 100.00 1
    NLRC4 99.95 1
    NLRP1 95.26 1
    NLRP12 99.99 1
    NLRP3 100.00 1
    NNT 99.87 1
    NOP10 99.99 1
    NOTCH1 99.98 1
    NR5A1 99.92 1
    NRAS 99.66 1
    NSDHL 99.87 1
    OCA2 99.60 1
    OSMR 99.95 1
    PADI3 99.35 1
    PAX3 100.00 1
    PAX6 99.95 1
    PDGFRB 99.99 1
    PEPD 99.98 1
    PEX7 99.72 1
    PGM3 99.94 1
    PHGDH 99.79 1
    PHYH 100.00 1
    PIEZO1 99.98 1
    PIGL 99.98 1
    PIGT 99.95 1
    PKP1 99.98 1
    PLCD1 99.98 1
    PLCG2 99.99 1
    PLEC 100.00 1
    PMVK 99.60 1
    PNPLA1 99.98 1
    PNPLA2 100.00 1
    PNPLA6 99.99 1
    POFUT1 100.00 1
    POGLUT1 99.99 1
    POLA1 99.57 1
    POLH 99.85 1
    POMC 99.99 1
    NT5C3A 99.95 1
    PORCN 99.93 1
    HCRT 99.85 1
    PRKCD 99.96 1
    PRKD1 99.96 1
    PSAT1 99.98 1
    PSENEN 100.00 1
    PSMB8 99.96 1
    PTCH1 99.99 1
    PTEN 99.89 1
    PTPN11 99.98 1
    PTPRF 99.92 1
    RAB27A 99.94 1
    RAD50 99.75 1
    RAF1 99.97 1
    RAG1 100.00 1
    RAG2 100.00 1
    RBM28 99.99 1
    RBPJ 99.96 1
    RECQL4 100.00 1
    RET 99.97 1
    RHBDF2 99.95 1
    RIN2 99.99 1
    RIT1 99.78 1
    RMRP 100.00 1
    RSPO1 99.99 1
    SCN9A 99.83 1
    SDR9C7 99.99 1
    SERPINB7 99.93 1
    SERPINB8 99.98 1
    SERPING1 100.00 1
    SGPL1 99.95 1
    SHOC2 99.96 1
    SLC24A5 99.99 1
    SLC27A4 100.00 1
    SLC29A3 99.98 1
    SLC39A4 100.00 1
    SLC45A2 100.00 1
    SLURP1 100.00 1
    SMARCA2 99.95 1
    SMARCAD1 99.86 1
    SNAI2 100.00 1
    SNAP29 99.85 1
    SNRPE 99.26 1
    SOS1 99.68 1
    SOS2 99.39 1
    SOX10 100.00 1
    SOX18 100.00 1
    SPINK5 99.91 1
    SPINT1 100.00 1
    SPRED1 99.99 1
    SRD5A3 99.94 1
    ST14 100.00 1
    ST3GAL5 99.96 1
    STAT3 99.97 1
    STIM1 99.99 1
    STK11 100.00 1
    STS 99.81 1
    SULT2B1 99.92 1
    SUMF1 99.95 1
    TAT 99.99 1
    TCHH 99.94 1
    TERC 98.59 1
    TGM1 99.82 1
    TGM3 100.00 1
    TGM5 100.00 1
    TINF2 100.00 1
    TP63 99.97 1
    TRPM1 99.96 1
    TRPS1 100.00 1
    TRPV3 99.90 1
    TWIST2 100.00 1
    TXNRD2 99.97 1
    TYRP1 99.97 1
    UBR1 99.93 1
    UROD 99.32 1
    UROS 100.00 1
    USB1 89.62 1
    VCX 96.04 1
    VCX3A 85.19 1
    WDR19 99.80 1
    WDR35 99.92 1
    WNT10A 100.00 1
    XPA 99.68 1
    XPC 99.98 1
    ZMPSTE24 98.70 1
  • Stickler syndrome - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    COL2A1 100.00 1
    COL11A1 100.00 1
    COL11A2 100.00 1
    COL9A1 100.00 1
    COL9A2 100.00 1
    COL9A3 100.00 1
    LOXL3 100.00 1
    LRP2 100.00 1
  • Stroke - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA1 99.92 1
    ABCC6 98.57 1
    ACAD9 100.00 1
    ACP5 100.00 1
    ACTA2 99.99 1
    ACVRL1 99.88 1
    ADA2 100.00 1
    APP 99.92 1
    ASS1 77.52 1
    ATP7A 99.87 1
    C1R 99.99 1
    CACNA1A 98.16 1
    CBS 17.79 1
    CCM2 99.93 1
    CD59 100.00 1
    COG6 99.86 1
    COL1A1 99.90 1
    COL3A1 99.87 1
    COL4A1 99.99 1
    COL4A2 99.98 1
    COL5A1 99.99 1
    COL5A2 99.86 1
    COQ8A 100.00 1
    CYP21A2 99.91 1
    CST3 100.00 1
    CTSA 99.98 1
    DYRK1B 99.99 1
    EFEMP2 99.94 1
    ENG 100.00 1
    ENPP1 99.88 1
    ESCO2 99.92 1
    F10 99.98 1
    F13A1 99.43 1
    F2 99.99 1
    F5 99.59 1
    F7 100.00 1
    F8A1 21.76 1
    FBN1 99.85 1
    FGA 99.98 1
    FGB 99.93 1
    FGG 99.98 1
    FOXC1 100.00 1
    GAA 100.00 1
    GATA3 99.96 1
    GCDH 100.00 1
    GGCX 99.88 1
    GLA 99.90 1
    GUCY1A1 99.99 1
    HBB 100.00 1
    HSD11B2 99.99 1
    HTRA1 100.00 1
    ITM2B 99.85 1
    IVD 100.00 1
    JAG1 100.00 1
    JAK2 99.52 1
    JAM3 100.00 1
    KNG1 99.99 1
    KRIT1 99.33 1
    LMNA 99.96 1
    MFAP5 99.96 1
    MFN2 99.98 1
    MMACHC 99.98 1
    MMUT 99.68 1
    MTHFR 99.97 1
    MYH11 99.16 1
    NF1 99.88 1
    NOTCH3 99.99 1
    OTC 99.42 1
    PCCA 99.90 1
    PCCB 99.97 1
    PCNT 99.97 1
    PDCD10 99.94 1
    PDE3A 99.97 1
    PKD1 99.98 1
    PLG 99.89 1
    PLOD1 99.93 1
    PLOD3 99.89 1
    PROC 99.98 1
    PROS1 99.84 1
    PTPN11 99.98 1
    RASA1 99.05 1
    SAMHD1 99.98 1
    SERPINE1 99.90 1
    SLC19A2 98.86 1
    SLC2A10 100.00 1
    SMAD3 99.99 1
    SMAD4 99.97 1
    SMARCAL1 99.97 1
    SPARC 99.94 1
    STAT1 99.83 1
    STIM1 99.99 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    THBD 100.00 1
    TREX1 100.00 1
    TSC1 99.99 1
    TSC2 99.98 1
    TTR 100.00 1
    VHL 100.00 1
    YY1AP1 99.98 1
  • Subfertility, infertility and gamete malfunction - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTL7A 100.00 1
    ACTL9 100.00 1
    BTG4 99.98 1
    BUB1B 100.00 1
    FZR1 99.89 1
    CHEK1 99.89 1
    FBXO43 99.96 1
    IQCN 100.00 1
    KCNU1 99.93 1
    KHDC3L 100.00 1
    MEI1 99.99 1
    MOCOS 100.00 1
    NLRP2 99.99 1
    NLRP5 100.00 1
    NLRP7 99.99 1
    OOEP 99.97 1
    PADI6 99.47 1
    PANX1 100.00 1
    PATL2 99.99 1
    PLCZ1 99.83 1
    REC114 99.89 1
    RGS12 99.99 1
    SEPTIN12 99.94 1
    TBPL2 99.96 1
    TLE6 100.00 1
    TOP6BL 99.89 1
    TRIP13 100.00 1
    TUBB8 99.83 1
    WEE2 98.98 1
    ZAR1 99.99 1
    ZFP36L2 100.00 1
    ZP1 99.94 1
    ZP2 99.79 1
    ZP3 93.11 1
  • Treatable intellectual disability (tID)
  • Weill-Marchesani - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS10 100.00 1
    ADAMTS17 100.00 1
    FBN1 100.00 1
    LTBP2 100.00 1
    SMAD4 100.00 1
  • cardiopathy panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 99.92 1
    ACADVL 100.00 1
    ACTA2 99.99 1
    ACTC1 98.57 1
    ACTN2 99.99 1
    AGL 97.67 1
    AKAP10 99.85 1
    AKAP9 99.27 1
    ALG10 100.00 1
    ANK2 99.98 1
    ANKRD1 99.57 1
    ATP5F1E 100.00 1
    BAG3 100.00 1
    BRAF 99.78 1
    CACNA1C 100.00 1
    CACNA2D1 97.12 1
    CACNB2 99.93 1
    CALM1 99.86 1
    CALM2 99.62 1
    CALR3 99.91 1
    CASQ2 94.39 1
    CAV3 100.00 1
    CBL 99.95 1
    CFC1 21.93 1
    CITED2 100.00 1
    COA5 98.65 1
    CRELD1 99.99 1
    CRYAB 100.00 1
    CSRP3 100.00 1
    CTF1 100.00 1
    CTNNA1 99.98 1
    CTNNA3 99.96 1
    DCHS1 100.00 1
    DES 100.00 1
    DMD 99.76 1
    DMPK 99.93 1
    DNM1L 99.40 1
    DOLK 100.00 1
    DPP6 99.99 1
    DSC3 99.73 1
    DSG2 99.96 1
    DSP 100.00 1
    DTNA 100.00 1
    ELN 99.86 1
    EMD 99.93 1
    EYA4 99.96 1
    FBN1 99.85 1
    FBXO32 99.99 1
    CFH 99.97 1
    FHL2 100.00 1
    FKRP 100.00 1
    FKTN 99.94 1
    FLNC 99.99 1
    FOXRED1 100.00 1
    FXN 99.96 1
    GAA 100.00 1
    GATA4 99.99 1
    GATA5 100.00 1
    GATA6 99.90 1
    GATAD1 99.79 1
    GDF1 100.00 1
    GJA1 100.00 1
    GJA5 100.00 1
    GLA 99.90 1
    GLB1 100.00 1
    GPD1L 99.97 1
    GUSB 95.07 1
    HAND1 99.99 1
    HCN4 100.00 1
    HFE 100.00 1
    HRAS 100.00 1
    ILK 100.00 1
    JAG1 100.00 1
    JPH2 99.99 1
    JUP 99.94 1
    KCNA5 100.00 1
    KCND3 99.98 1
    KCNE1 87.07 1
    KCNE2 99.99 1
    KCNE3 100.00 1
    KCNE5 99.97 1
    KCNH2 99.99 1
    KCNJ2 100.00 1
    KCNJ5 99.99 1
    KCNJ8 100.00 1
    KCNQ1 100.00 1
    KRAS 99.13 1
    LAMA4 99.93 1
    LAMP2 98.95 1
    LDB3 99.91 1
    LMNA 99.96 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MED13L 99.99 1
    MIB1 99.91 1
    MRPL3 99.94 1
    MYBPC3 99.98 1
    MYH6 100.00 1
    MYH7 99.99 1
    MYL2 99.99 1
    MYL3 99.99 1
    MYLK2 100.00 1
    MYOM1 99.98 1
    MYOZ1 99.93 1
    MYOZ2 99.99 1
    MYPN 99.88 1
    NEBL 99.86 1
    NEXN 97.73 1
    NKX2-5 99.75 1
    NKX2-6 100.00 1
    NOS1AP 99.91 1
    NPPA 100.00 1
    NRAS 99.66 1
    PDLIM3 99.94 1
    PKP2 94.27 1
    PLN 99.97 1
    PRKAG2 99.96 1
    PSEN1 100.00 1
    PSEN2 99.97 1
    PTPN11 99.98 1
    RAF1 99.97 1
    RANGRF 100.00 1
    RBM20 99.99 1
    RYR2 99.94 1
    SCN1B 99.98 1
    SCN2B 100.00 1
    SCN3B 100.00 1
    SCN4B 100.00 1
    SCN5A 100.00 1
    SCO2 100.00 1
    SDHA 99.98 1
    SGCD 100.00 1
    SHOC2 99.96 1
    SLC25A3 99.79 1
    SLMAP 99.55 1
    SMAD3 99.99 1
    SNTA1 99.99 1
    SOD2 99.98 1
    SOS1 99.68 1
    SPRED1 99.99 1
    SYNE1 99.95 1
    SYNE2 99.95 1
    TAFAZZIN 99.98 1
    TBX1 99.95 1
    TBX20 99.99 1
    TCAP 100.00 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TLL1 99.94 1
    TMEM43 99.96 1
    TMEM70 99.99 1
    TMPO 99.81 1
    TNNI3 100.00 1
    TNNT2 99.87 1
    TPM1 99.92 1
    TRDN 99.80 1
    TRIM63 99.96 1
    TRPM4 99.99 1
    TSFM 100.00 1
    TTN 99.15 1
    TTR 100.00 1
    TXNRD2 99.97 1
    VCL 99.76 1
    XK 99.98 1
    ZFPM2 100.00 1