1. Analytes
  2. VCP

VCP

Analyte Export to PDF
Name:
valosin containing protein
Symbol:
VCP
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
CDC48
IBMPFD
TERA
p97
transitional endoplasmic reticulum ATPase
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 NM_001605.2
    ABCD1 100.00 0 NM_000033.3
    ABHD12 98.00 0 NM_001042472.2
    AGTPBP1 99.90 0 NM_001286715.1
    AIFM1 100.00 0 NM_004208.3
    APTX 99.00 0 NM_175073.2
    ARHGEF10 100.00 0 NM_014629.3
    ATL1 100.00 0 NM_015915.4
    ATL3 100.00 0 NM_015459.4
    ATP1A1 100.00 0 NM_000701.7
    ATP7A 100.00 0 NM_000052.6
    BAG3 100.00 0 NM_004281.3
    BICD2 100.00 0 NM_001003800.1
    BSCL2 100.00 0 NM_032667.6
    MTRFR 100.00 0 NM_152269.4
    CCT5 100.00 0 NM_012073.4
    CD59 100.00 0 NM_203330.2
    CNTNAP1 100.00 0 NM_003632.2
    COA7 100.00 0 NM_023077.2
    COX6A1 100.00 0 NM_004373.3
    CTDP1 98.90 0 NM_004715.4
    DCAF8 100.00 0 NM_015726.3
    DCTN1 100.00 0 NM_004082.4
    DGAT2 100.00 0 NM_032564.4
    DHTKD1 99.90 0 NM_018706.6
    DNAJB2 100.00 0 NM_001039550.1
    DNM2 100.00 0 NM_001005360.2
    DNMT1 99.50 0 NM_001130823.2
    DRP2 100.00 0 NM_001939.2
    DST 100.00 0 NM_001723.5
    DYNC1H1 100.00 0 NM_001376.4
    EGR2 100.00 0 NM_000399.4
    ELP1 100.00 0 NM_003640.4
    FBLN5 100.00 0 NM_006329.3
    FBXO38 100.00 0 NM_030793.4
    FGD4 100.00 0 NM_139241.3
    FIG4 100.00 0 NM_014845.5
    FLVCR1 100.00 0 NM_014053.3
    GAN 100.00 0 NM_022041.3
    GARS1 100.00 0 NM_002047.3
    GDAP1 100.00 0 NM_018972.3
    GJB1 100.00 0 NM_000166.5
    GJB3 100.00 0 NM_024009.2
    GLA 100.00 0 NM_000169.2
    GNB4 100.00 0 NM_021629.3
    HADHA 100.00 0 NM_000182.4
    HADHB 100.00 0 NM_000183.2
    HARS1 100.00 0 NM_002109.5
    HINT1 100.00 0 NM_005340.6
    HK1 100.00 0 NM_000188.2
    HOXD10 100.00 0 NM_002148.3
    HSPB1 99.00 0 NM_001540.4
    HSPB3 100.00 0 NM_006308.2
    HSPB8 100.00 0 NM_014365.2
    IARS2 100.00 0 NM_018060.3
    IFRD1 99.90 0 NM_001550.3
    IGHMBP2 100.00 0 NM_002180.2
    INF2 98.80 0 NM_022489.3
    ITPR3 99.50 0 NM_002224.3
    KARS1 100.00 0 NM_001130089.1
    KIF1A 99.90 0 NM_004321.7
    KIF1B 100.00 0 NM_015074.3
    KIF5A 100.00 0 NM_004984.3
    KLHL13 100.00 0 NM_033495.3
    LITAF 100.00 0 NM_004862.3
    LMNA 99.90 0 NM_170707.3
    LRSAM1 100.00 0 NM_138361.5
    MARS1 100.00 0 NM_004990.3
    MCM3AP 100.00 0 NM_003906.4
    MED25 100.00 0 NM_030973.3
    MFN2 100.00 0 NM_014874.3
    MME 100.00 0 NM_007289.3
    MORC2 100.00 0 NM_001303256.2
    MPV17 100.00 0 NM_002437.4
    MPZ 100.00 0 NM_000530.7
    MTMR2 100.00 0 NM_016156.5
    MYH7B 99.80 0 NM_024729.3
    NAGLU 99.70 0 NM_000263.3
    NDRG1 100.00 0 NM_006096.3
    NEFH 99.50 0 NM_021076.3
    NEFL 99.60 0 NM_006158.4
    NGF 100.00 0 NM_002506.2
    NTRK1 100.00 0 NM_001012331.1
    MED12 100.00 0 NM_015560.2
    OPA3 100.00 0 NM_025136.3
    PDK3 100.00 0 NM_001142386.2
    PDXK 100.00 0 NM_003681.4
    PEX1 100.00 0 NM_000466.2
    PEX7 100.00 0 NM_000288.3
    PHYH 100.00 0 NM_006214.3
    PLEKHG5 99.80 0 NM_020631.4
    PMP2 100.00 0 NM_002677.4
    PMP22 100.00 0 NM_000304.3
    PNKP 99.80 0 NM_007254.3
    POLG 100.00 0 NM_002693.2
    PRDM12 90.30 0 NM_021619.2
    PRNP 100.00 0 NM_000311.4
    PRPS1 100.00 0 NM_002764.3
    PRX 100.00 0 NM_181882.2
    RAB7A 100.00 0 NM_004637.5
    REEP1 100.00 0 NM_022912.2
    RETREG1 99.40 0 NM_001034850.2
    SBF1 99.70 0 NM_002972.3
    SBF2 100.00 0 NM_030962.3
    SCN10A 100.00 0 NM_006514.3
    SCN11A 99.80 0 NM_014139.2
    SCN9A 100.00 0 NM_002977.3
    SCO2 100.00 0 NM_005138.2
    SCP2 100.00 0 NM_002979.4
    SEPTIN9 99.20 0 NM_006640.4
    SETX 100.00 0 NM_015046.6
    SGPL1 100.00 0 NM_003901.3
    SH3BP4 100.00 0 NM_014521.2
    SH3TC2 100.00 0 NM_024577.3
    SIGMAR1 100.00 0 NM_005866.3
    SLC12A6 100.00 0 NM_133647.1
    SLC25A46 100.00 0 NM_138773.3
    SLC5A7 100.00 0 NM_021815.4
    SORD 91.20 0 NM_003104.5
    SOX10 100.00 0 NM_006941.3
    SPG11 100.00 0 NM_025137.3
    SPTLC1 100.00 0 NM_006415.3
    SPTLC2 100.00 0 NM_004863.3
    SURF1 99.00 0 NM_003172.3
    TDP1 100.00 0 NM_018319.3
    TECPR2 100.00 0 NM_014844.4
    TFG 100.00 0 NM_006070.5
    TRIM2 100.00 0 NM_001130067.1
    TRPA1 100.00 0 NM_007332.2
    TRPV4 99.90 0 NM_021625.4
    TTR 100.00 0 NM_000371.3
    TUBB3 100.00 0 NM_006086.3
    TWNK 100.00 0 NM_021830.4
    TYMP 100.00 0 NM_001953.4
    VCP 99.90 0 NM_007126.4
    VRK1 100.00 0 NM_003384.2
    WARS1 99.80 0 NM_004184.3
    WNK1 99.80 0 NM_018979.3
    YARS1 100.00 0 NM_003680.3
  • 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
  • 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
  • Dementia, young onset (gene panel)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APOE 100.00 1
    APP 100.00 1
    CHCHD10 100.00 1
    CHMP2B 100.00 1
    CSF1R 100.00 1
    FUS 100.00 1
    GRN 100.00 1
    HTRA1 95.00 1
    ITM2B 100.00 1
    MAPT 100.00 1
    NOTCH3 98.00 1
    OPTN 100.00 1
    PRNP 100.00 1
    PSEN1 100.00 1
    PSEN2 100.00 1
    TARDBP 100.00 1
    TBK1 100.00 1
    TREM2 100.00 1
    TYROBP 100.00 1
    UBQLN2 100.00 1
    VCP 100.00 1
  • Hereditary spastic paraplegia (188 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCD1 97.56 1
    ABHD12 88.30 1
    ADAR 100.00 1
    AFG3L2 94.80 1
    AIMP1 99.97 1
    ALDH18A1 100.00 1
    ALDH3A2 99.94 1
    ALS2 100.00 1
    AMPD2 99.90 1
    ANG 100.00 1
    AP4B1 100.00 1
    AP4E1 99.99 1
    AP4M1 100.00 1
    AP4S1 100.00 1
    AP5Z1 99.25 1
    ARG1 100.00 1
    ARL6IP1 100.00 1
    ARSI 99.82 1
    ASPA 100.00 1
    ATAD3A 97.50 1
    ATL1 99.89 1
    ATP13A2 98.30 1
    AUH 99.24 1
    B4GALNT1 99.99 1
    BICD2 100.00 1
    BSCL2 100.00 1
    BTD 100.00 1
    MTRFR 100.00 1
    C19ORF12 100.00 1
    CAPN1 99.97 1
    CCT5 99.92 1
    CDK16 99.96 1
    CLN8 100.00 1
    COASY 100.00 1
    CPT1C 100.00 1
    CSF1R 99.99 1
    CTNNB1 100.00 1
    CYP27A1 99.38 1
    CYP2U1 93.20 1
    CYP7B1 100.00 1
    DARS1 100.00 1
    DARS2 100.00 1
    DDHD1 99.58 1
    DDHD2 100.00 1
    DSTYK 100.00 1
    ELOVL4 100.00 1
    ENTPD1 100.00 1
    ERCC2 98.91 1
    ERLIN1 100.00 1
    ERLIN2 100.00 1
    EXOSC3 100.00 1
    FA2H 95.71 1
    HYCC1 100.00 1
    RETREG1 100.00 1
    FARS2 100.00 1
    FBXO7 99.78 1
    FIG4 100.00 1
    FLRT1 100.00 1
    FRMD7 99.98 1
    FUS 100.00 1
    FXN 100.00 1
    GAD1 100.00 1
    GALC 98.98 1
    GAN 98.52 1
    GARS1 97.89 1
    GART 99.99 1
    GBA1 100.00 1
    GBA2 100.00 1
    GBE1 100.00 1
    GCH1 99.71 1
    GFAP 100.00 1
    GJA1 100.00 1
    GJC2 96.72 1
    GLB1 100.00 1
    GLRX5 100.00 1
    GLTP 100.00 1
    GPR143 89.09 1
    GSN 97.80 1
    HACE1 98.41 1
    HEPACAM 99.85 1
    HEXA 100.00 1
    HSD17B4 100.00 1
    HSPD1 100.00 1
    IBA57 92.01 1
    IFIH1 100.00 1
    IRF2BPL 97.56 1
    KCNJ6 100.00 1
    KCNMA1 99.93 1
    KDM5C 99.97 1
    WASHC5 100.00 1
    NEXMIF 100.00 1
    KIDINS220 100.00 1
    KIF1A 98.74 1
    KIF1C 100.00 1
    KIF5A 100.00 1
    KLC2 100.00 1
    KLC4 99.99 1
    L1CAM 99.98 1
    L2HGDH 99.75 1
    LAMB1 100.00 1
    LYST 100.00 1
    MARS1 100.00 1
    MARS2 100.00 1
    MFN2 100.00 1
    MLC1 98.57 1
    MTPAP 99.98 1
    NANS 100.00 1
    NEFL 100.00 1
    NIPA1 92.99 1
    NKX6-2 100.00 1
    NT5C2 100.00 1
    OCLN 100.00 1
    MED12 99.98 1
    OPA3 100.00 1
    OPTN 100.00 1
    PANK2 100.00 1
    PDYN 100.00 1
    PGAP1 100.00 1
    PLA2G6 100.00 1
    PLP1 100.00 1
    PNPLA6 99.95 1
    POLR3A 100.00 1
    POLR3B 100.00 1
    PPP2R2B 100.00 1
    PRUNE1 100.00 1
    PSEN1 100.00 1
    PUM1 100.00 1
    RAB18 99.99 1
    RAB3GAP1 100.00 1
    RAB3GAP2 100.00 1
    RARS1 99.99 1
    REEP1 100.00 1
    REEP2 97.04 1
    RNASEH2A 100.00 1
    RNASEH2B 94.58 1
    RNASEH2C 100.00 1
    RNASET2 100.00 1
    RTN2 99.44 1
    SACS 99.95 1
    SAMD9L 100.00 1
    SAMHD1 100.00 1
    SERAC1 100.00 1
    SETX 100.00 1
    SIL1 99.95 1
    SLC16A2 99.97 1
    SLC25A15 100.00 1
    SLC25A46 100.00 1
    SLC2A1 100.00 1
    SLC33A1 100.00 1
    SLC39A14 99.94 1
    SMPD1 100.00 1
    SOD1 100.00 1
    SOX10 100.00 1
    SPAST 99.83 1
    SPG11 100.00 1
    SPART 100.00 1
    SPG21 100.00 1
    SPG7 95.78 1
    SPR 99.98 1
    SUN1 100.00 1
    SYNE1 100.00 1
    TANGO2 99.94 1
    TARDBP 99.43 1
    TBC1D20 95.06 1
    TECPR2 99.92 1
    TFG 99.98 1
    TGM6 100.00 1
    TH 98.79 1
    TRPV4 100.00 1
    TTBK2 100.00 1
    TUBB4A 100.00 1
    TUBG1 100.00 1
    UBQLN2 99.30 1
    UCHL1 99.66 1
    USP8 100.00 1
    VAMP1 100.00 1
    VAPB 99.77 1
    VCP 97.10 1
    VPS13B 100.00 1
    VPS37A 99.28 1
    WDR45 100.00 1
    WDR45B 99.94 1
    WDR48 100.00 1
    ZC4H2 100.00 1
    ZFR 100.00 1
    ZFYVE26 100.00 1
    ZFYVE27 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
  • Movement Disorders - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0
    ABAT 100.00 0
    ACTB 100.00 0
    ACTL6B 100.00 0
    ADAR 100.00 0
    ADCY5 94.82 0
    ADPRS 97.19 0
    AFG3L2 95.73 0
    AGTPBP1 97.48 0
    AIMP1 100.00 0
    ALDH5A1 91.82 0
    ALG13 99.52 0
    ALG6 100.00 0
    ALS2 100.00 0
    AMT 100.00 0
    ANO3 99.99 0
    AOPEP 98.17 0
    AP3D1 100.00 0
    AP4M1 100.00 0
    AP5Z1 100.00 0
    APTX 100.00 0
    ARG1 100.00 0
    ARHGEF9 100.00 0
    ARSA 100.00 0
    ARV1 100.00 0
    ARX 76.27 0
    ASAH1 100.00 0
    ASNS 100.00 0
    ASS1 100.00 0
    ATAD1 100.00 0
    ATCAY 100.00 0
    ATM 100.00 0
    ATN1 100.00 0
    ATP13A2 99.13 0
    ATP1A2 99.91 0
    ATP1A3 100.00 0
    ATP6AP2 98.93 0
    ATP7B 100.00 0
    ATP8A2 100.00 0
    ATXN2 97.08 0
    AUH 98.84 0
    BCAP31 100.00 0
    BCKDHA 100.00 0
    BCKDHB 100.00 0
    BCS1L 100.00 0
    BSCL2 100.00 0
    BTK 100.00 0
    C19ORF12 100.00 0
    C9ORF72 100.00 0
    CA8 100.00 0
    CACNA1A 100.00 0
    CACNA1B 95.99 0
    CACNA1E 99.97 0
    CACNA1G 100.00 0
    CACNB4 100.00 0
    CARS2 95.22 0
    CBS 100.00 0
    CDKL5 99.33 0
    CEP290 99.99 0
    CHCHD2 100.00 0
    CHMP2B 100.00 0
    CHRNA2 99.97 0
    CHRNA4 99.98 0
    CHRNB2 100.00 0
    CIZ1 99.96 0
    CLCN2 100.00 0
    CLCN3 100.00 0
    CLCN6 100.00 0
    CLPB 100.00 0
    CLTC 100.00 0
    CNTNAP1 100.00 0
    COASY 100.00 0
    COL6A3 100.00 0
    COQ8A 100.00 0
    COQ9 100.00 0
    COX10 100.00 0
    COX15 100.00 0
    COX20 100.00 0
    CP 99.98 0
    CRAT 100.00 0
    CRH 100.00 0
    CRLF1 89.13 0
    CSF1R 100.00 0
    CSTB 100.00 0
    CTC1 100.00 0
    CTDP1 90.20 0
    CTNNB1 100.00 0
    CTSA 100.00 0
    CTSD 100.00 0
    CTSF 89.18 0
    CUL4B 98.64 0
    CWF19L1 100.00 0
    CYB5R3 95.77 0
    CYFIP2 100.00 0
    CYP27A1 99.38 0
    DARS1 100.00 0
    DBT 100.00 0
    DCAF17 99.11 0
    DCC 100.00 0
    DCTN1 100.00 0
    DDC 100.00 0
    DEGS1 100.00 0
    DEPDC5 100.00 0
    DHDDS 100.00 0
    DHX30 100.00 0
    DLAT 100.00 0
    DLD 100.00 0
    DMXL2 99.99 0
    DNAJB2 100.00 0
    DNAJC12 100.00 0
    DNAJC13 100.00 0
    DNAJC19 100.00 0
    DNAJC5 100.00 0
    DNAJC6 100.00 0
    DNAL4 100.00 0
    DNM1L 100.00 0
    DNMT1 99.83 0
    EARS2 100.00 0
    ECHS1 100.00 0
    EEF1A2 98.47 0
    ELOVL4 100.00 0
    EPRS1 100.00 0
    ETHE1 100.00 0
    FA2H 92.84 0
    FARS2 100.00 0
    FASTKD2 100.00 0
    FBXL4 100.00 0
    FBXO7 100.00 0
    FGF14 100.00 0
    FITM2 100.00 0
    FOLR1 100.00 0
    FOXG1 87.63 0
    FOXRED1 100.00 0
    FRRS1L 87.33 0
    FTL 100.00 0
    FUCA1 99.67 0
    FUS 100.00 0
    FXN 96.07 0
    GABRA2 100.00 0
    GABRB2 100.00 0
    GALT 100.00 0
    GAMT 98.07 0
    GBA1 100.00 0
    GBE1 100.00 0
    GCDH 100.00 0
    GCH1 98.16 0
    GFAP 100.00 0
    GFM1 100.00 0
    GFM2 99.99 0
    GJC2 88.27 0
    GLB1 100.00 0
    GLDC 97.21 0
    GLRA1 100.00 0
    GLRB 100.00 0
    GM2A 100.00 0
    GNAL 100.00 0
    GNAO1 100.00 0
    GNB1 100.00 0
    GOSR2 100.00 0
    GPHN 100.00 0
    GPR88 77.04 0
    GRID2 100.00 0
    GRIN1 100.00 0
    GRIN2B 100.00 0
    GRN 100.00 0
    GSX2 100.00 0
    GTPBP2 99.48 0
    HECW2 100.00 0
    HEXA 100.00 0
    HEXB 99.87 0
    HIBCH 100.00 0
    HPRT1 97.15 0
    HSD17B10 100.00 0
    HTT 99.18 0
    IFIH1 100.00 0
    IREB2 100.00 0
    IRF2BPL 99.88 0
    IVD 100.00 0
    JAM2 100.00 0
    JPH3 100.00 0
    KCNA1 100.00 0
    KCNA2 100.00 0
    KCNA4 100.00 0
    KCNC3 78.67 0
    KCND3 100.00 0
    KCNMA1 100.00 0
    KCNQ2 100.00 0
    KCNT1 99.92 0
    KCTD17 95.63 0
    KCTD7 99.64 0
    KIF1C 100.00 0
    KIF5A 100.00 0
    KMT2B 96.75 0
    L2HGDH 100.00 0
    LIAS 100.00 0
    LIPT1 100.00 0
    LIPT2 92.08 0
    LMNB1 98.51 0
    LRPPRC 100.00 0
    LRRK2 100.00 0
    LYST 100.00 0
    MAPT 100.00 0
    MARS2 100.00 0
    MCEE 100.00 0
    MCOLN1 98.10 0
    MDH2 100.00 0
    MECP2 100.00 0
    MECR 100.00 0
    MED20 100.00 0
    MEF2C 100.00 0
    MFSD8 100.00 0
    MICU1 100.00 0
    MMAA 100.00 0
    MMAB 100.00 0
    MMADHC 100.00 0
    MMUT 100.00 0
    MPV17 100.00 0
    MRE11 100.00 0
    MRPS34 99.28 0
    MTHFR 100.00 0
    MTR 100.00 0
    MTRFR 100.00 0
    MTRR 100.00 0
    MYBPC1 100.00 0
    MYORG 100.00 0
    NALCN 100.00 0
    NAXD 100.00 0
    NDUFA1 100.00 0
    NDUFA10 99.52 0
    NDUFA12 100.00 0
    NDUFA2 100.00 0
    NDUFA9 100.00 0
    NDUFAF2 100.00 0
    NDUFAF4 100.00 0
    NDUFAF5 100.00 0
    NDUFAF6 95.34 0
    NDUFS1 100.00 0
    NDUFS3 100.00 0
    NDUFS4 100.00 0
    NDUFS7 100.00 0
    NDUFS8 100.00 0
    NDUFV1 100.00 0
    NEU1 100.00 0
    NGLY1 100.00 0
    NHLRC2 100.00 0
    NKX2-1 89.99 0
    NKX6-2 70.62 0
    NPC1 100.00 0
    NPC2 100.00 0
    NTN1 94.10 0
    NTNG2 91.87 0
    NUP62 100.00 0
    MED12 100.00 0
    OPA3 100.00 0
    PAH 100.00 0
    PANK2 95.70 0
    PARK7 100.00 0
    PODXL 96.85 0
    PCBD1 92.74 0
    PCCA 100.00 0
    PCCB 100.00 0
    PCDH12 100.00 0
    PCDH19 100.00 0
    PDE10A 100.00 0
    PDE2A 100.00 0
    PDE8B 97.56 0
    PDGFB 100.00 0
    PDGFRB 100.00 0
    PDHA1 100.00 0
    PDHB 100.00 0
    PDHX 100.00 0
    PDYN 100.00 0
    PEX16 100.00 0
    PGK1 100.00 0
    PIGP 100.00 0
    PINK1 91.10 0
    PLA2G6 100.00 0
    PLEKHG2 100.00 0
    PLP1 100.00 0
    PMM2 100.00 0
    PMPCB 100.00 0
    PNKD 100.00 0
    PNKP 100.00 0
    PNPLA8 100.00 0
    PNPT1 100.00 0
    POLG 100.00 0
    POLR1C 100.00 0
    POLR3A 100.00 0
    PPT1 100.00 0
    PRICKLE1 100.00 0
    PRKCG 100.00 0
    PRKN 100.00 0
    PRKRA 100.00 0
    PRNP 100.00 0
    PRRT2 100.00 0
    PTRHD1 100.00 0
    PTS 100.00 0
    PUM1 100.00 0
    PURA 88.25 0
    QDPR 99.38 0
    RAB11B 100.00 0
    RAB39B 100.00 0
    RAD51 100.00 0
    RELN 100.00 0
    REPS1 100.00 0
    RHOBTB2 100.00 0
    RNF216 100.00 0
    SACS 100.00 0
    SCARB2 100.00 0
    SCN11A 99.99 0
    SCN1A 100.00 0
    SCN2A 100.00 0
    SCN4A 100.00 0
    SCN8A 100.00 0
    SCP2 100.00 0
    SCYL1 100.00 0
    SDHA 98.70 0
    SDHAF1 96.31 0
    SDHD 100.00 0
    SEPSECS 100.00 0
    SERAC1 100.00 0
    SETD5 100.00 0
    SETX 100.00 0
    SGCE 100.00 0
    SLC16A2 100.00 0
    SLC18A2 100.00 0
    SLC19A3 99.96 0
    SLC1A3 100.00 0
    SLC20A2 100.00 0
    SLC25A19 100.00 0
    SLC25A42 99.96 0
    SLC2A1 100.00 0
    SLC30A10 100.00 0
    SLC30A9 100.00 0
    SLC39A14 99.95 0
    SLC39A8 99.72 0
    SLC44A1 97.36 0
    SLC6A1 100.00 0
    SLC6A3 100.00 0
    SLC6A5 100.00 0
    SLC6A8 96.54 0
    SLC9A6 97.84 0
    SMPD1 100.00 0
    SNCA 100.00 0
    SPG11 100.00 0
    SPOP 100.00 0
    SPR 97.94 0
    SPTBN2 100.00 0
    SQSTM1 95.44 0
    SRD5A3 98.74 0
    ST3GAL5 92.43 0
    STUB1 99.46 0
    STXBP1 100.00 0
    SUCLA2 100.00 0
    SUCLG1 99.97 0
    SUMF1 100.00 0
    SUOX 100.00 0
    SURF1 92.90 0
    SYNE1 100.00 0
    SYNJ1 100.00 0
    SYT1 100.00 0
    TACO1 99.96 0
    TAF1 100.00 0
    TANGO2 100.00 0
    TARDBP 100.00 0
    TBC1D24 100.00 0
    TBK1 100.00 0
    TBL1XR1 100.00 0
    TENM4 100.00 0
    TGM6 100.00 0
    TH 100.00 0
    THAP1 100.00 0
    TIMM8A 100.00 0
    TMEM240 100.00 0
    TOR1A 100.00 0
    TPI1 100.00 0
    TPK1 100.00 0
    TRAK1 100.00 0
    TRAPPC11 100.00 0
    TRAPPC12 100.00 0
    TREM2 100.00 0
    TRIT1 100.00 0
    TSC1 100.00 0
    TSC2 100.00 0
    TSEN2 100.00 0
    TSEN54 94.95 0
    TSFM 92.64 0
    TTPA 87.42 0
    TUBB4A 100.00 0
    TXN2 100.00 0
    TYROBP 100.00 0
    UBA5 100.00 0
    UBQLN2 99.91 0
    UBR4 99.78 0
    UBTF 100.00 0
    UFM1 100.00 0
    UGDH 100.00 0
    UNC13A 99.92 0
    UQCRQ 100.00 0
    VAC14 100.00 0
    VAMP1 100.00 0
    VAMP2 100.00 0
    VCP 98.45 0
    VPS13A 100.00 0
    VPS13C 100.00 0
    VPS13D 100.00 0
    VPS16 100.00 0
    VPS35 100.00 0
    VPS41 100.00 0
    VPS4A 100.00 0
    VWA3B 100.00 0
    WARS2 100.00 0
    WDR45 100.00 0
    WDR73 100.00 0
    WDR81 100.00 0
    WWOX 100.00 0
    XK 99.86 0
    XPA 99.77 0
    XPC 100.00 0
    XPR1 100.00 0
    YY1 100.00 0
    ZC4H2 100.00 0
    ZFYVE26 100.00 0
    ZNF142 100.00 0
  • Myopathy (332 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ABHD5 100.00 1 NM_016006.6
    ACAD9 100.00 1 NM_014049.5
    ACADM 100.00 1 NM_000016.6
    ACADVL 100.00 1 NM_000018.4
    ACTA1 100.00 1 NM_001100.4
    ACVR1 100.00 1 NM_001111067.4
    ADSS1 100.00 1 NM_199165.2
    AGK 100.00 1 NM_018238.4
    AGL 100.00 1 NM_000642.3
    AGRN 100.00 1 NM_198576.4
    AIFM1 100.00 1 NM_004208.4
    ALDOA 100.00 1 NM_184041.4
    ALG13 98.00 1 NM_001099922.3
    ALG14 100.00 1 NM_144988.4
    ALG2 100.00 1 NM_033087.4
    ALS2 100.00 1 NM_020919.4
    AMPD1 100.00 1 NM_000036.2
    ANG 100.00 1 NM_001145.4
    ANO5 100.00 1 NM_213599.3
    AR 100.00 1 NM_000044.6
    ASAH1 100.00 1 NM_177924.5
    ASCC1 100.00 1 NM_001198800.3
    ATP2A1 100.00 1 NM_004320.6
    ATP7A 100.00 1 NM_000052.7
    ATXN2 100.00 1 NM_001372574.1
    B3GALNT2 100.00 1 NM_152490.5
    B4GAT1 100.00 1 NM_006876.3
    BAG3 100.00 1 NM_004281.4
    BCS1L 100.00 1 NM_001079866.2
    BICD2 100.00 1 NM_001003800.2
    BIN1 100.00 1 NM_139343.3
    BSCL2 100.00 1 NM_001122955.3
    BVES 100.00 1 NM_001199563.2
    C1QBP 100.00 1 NM_001212.4
    C9ORF72 100.00 0 NM_018325.5
    CACNA1A 100.00 1 NM_023035.3
    CACNA1S 100.00 1 NM_000069.3
    CAPN3 100.00 1 NM_000070.3
    CASQ1 100.00 1 NM_001231.5
    CAV3 100.00 1 NM_033337.3
    CAVIN1 100.00 1 NM_012232.6
    CCDC78 100.00 1 NM_001031737.3
    CFL2 100.00 1 NM_138638.5
    CHAT 100.00 1 NM_020549.4
    CHCHD10 100.00 1 NM_213720.3
    CHKB 100.00 1 NM_005198.5
    CHMP2B 100.00 1 NM_014043.4
    CHRNA1 100.00 1 NM_000079.4
    CHRNB1 100.00 1 NM_000747.3
    CHRND 100.00 1 NM_000751.3
    CHRNE 100.00 1 NM_000080.4
    CHRNG 100.00 1 NM_005199.5
    CHST14 100.00 1 NM_130468.4
    CLCN1 100.00 1 NM_000083.3
    CLN3 100.00 1 NM_001042432.2
    CNBP 100.00 1 NM_003418.5
    CNTN1 100.00 1 NM_001843.4
    COL12A1 100.00 1 NM_004370.6
    COL13A1 100.00 1 NM_001130103.2
    COL6A1 100.00 1 NM_001848.3
    COL6A2 100.00 1 NM_001849.4
    COL6A3 100.00 1 NM_004369.4
    COLQ 100.00 1 NM_005677.4
    COQ9 100.00 1 NM_020312.4
    COX10 100.00 1 NM_001303.4
    COX15 100.00 1 NM_078470.6
    COX20 100.00 1 NM_198076.6
    COX6B1 100.00 1 NM_001863.5
    COX8A 100.00 1 NM_004074.3
    CPT2 100.00 1 NM_000098.3
    CRPPA 100.00 1 NM_001101426.4
    CRYAB 100.00 1 NM_001289808.2
    DAG1 100.00 1 NM_001177634.2
    DCTN1 100.00 1 NM_004082.4
    DES 100.00 1 NM_001927.4
    DGUOK 100.00 1 NM_080916.3
    DMD 100.00 1 NM_004006.2
    DMPK 100.00 1 NM_004409.5
    DNA2 100.00 1 NM_001080449.3
    DNAJB2 100.00 1 NM_006736.6
    DNAJB6 100.00 1 NM_058246.4
    DNM2 100.00 1 NM_001005361.3
    DNMT3B 100.00 1 NM_006892.4
    DOK7 100.00 1 NM_173660.5
    DPAGT1 100.00 1 NM_001382.4
    DPM1 99.00 1 NM_001317035.1
    DPM2 100.00 1 NM_003863.4
    DPM3 100.00 1 NM_153741.2
    DYNC1H1 100.00 1 NM_001376.5
    DYSF 100.00 1 NM_001130987.2
    ECEL1 100.00 1 NM_004826.4
    EMD 100.00 1 NM_000117.3
    ENO3 100.00 1 NM_053013.4
    ERBB3 100.00 1 NM_001982.4
    ERBB4 100.00 1 NM_005235.3
    ETFA 100.00 1 NM_000126.4
    ETFB 100.00 1 NM_001985.3
    ETFDH 100.00 1 NM_004453.4
    EXOSC3 100.00 1 NM_016042.4
    EXOSC8 100.00 1 NM_181503.3
    FASTKD2 100.00 1 NM_001136193.2
    FBN2 100.00 1 NM_001999.4
    FBXL4 100.00 1 NM_001278716.2
    FBXO38 100.00 1 NM_205836.3
    FDX2 100.00 1 NM_001031734.4
    FHL1 100.00 1 NM_001159699.2
    FIG4 100.00 1 NM_014845.6
    FKRP 100.00 1 NM_024301.5
    FKTN 100.00 1 NM_006731.2
    FLAD1 100.00 1 NM_025207.5
    FLNC 100.00 1 NM_001458.4
    FOXRED1 100.00 1 NM_017547.4
    FUS 100.00 1 NM_004960.4
    FXR1 100.00 1 NM_005087.4
    GAA 100.00 1 NM_000152.5
    GABRA3 100.00 1 NM_000808.4
    GARS1 100.00 1 NM_002047.4
    GBE1 100.00 1 NM_000158.4
    GFER 100.00 1 NM_005262.3
    GFPT1 100.00 1 NM_001244710.2
    GLE1 100.00 1 NM_001003722.2
    GLI3 100.00 1 NM_000168.6
    GMPPB 100.00 1 NM_021971.4
    GNE 100.00 1 NM_005476.7
    GOLGA2 100.00 1 XM_005251932.1
    GYG1 100.00 1 NM_004130.4
    GYS1 100.00 1 NM_002103.5
    HACD1 100.00 1 NM_014241.4
    HADHA 100.00 1 NM_000182.5
    HADHB 100.00 1 NM_000183.3
    HEXB 100.00 1 NM_000521.4
    HNRNPA1 100.00 1 NM_031157.4
    HNRNPA2B1 100.00 1 NM_031243.3
    HNRNPDL 100.00 1 NM_031372.3
    HRAS 100.00 1 NM_005343.4
    HSPB3 100.00 1 NM_006308.3
    HSPB8 100.00 1 NM_014365.3
    HSPG2 100.00 1 NM_005529.7
    IBA57 100.00 1 NM_001010867.4
    IGHMBP2 100.00 1 NM_002180.3
    INPP5K 100.00 1 NM_016532.4
    ISCU 100.00 1 NM_213595.3
    ITGA7 100.00 1 NM_002206.3
    KBTBD13 100.00 1 NM_001101362.2
    KCNA1 100.00 1 NM_000217.3
    KCNH2 100.00 1 NM_000238.4
    KCNJ18 100.00 1 NM_001194958.2
    KCNJ2 100.00 1 NM_000891.3
    KCNQ1 100.00 1 NM_000218.3
    KIF5A 100.00 1 NM_004984.4
    KLHL40 100.00 1 NM_152393.4
    KLHL41 100.00 1 NM_006063.3
    KLHL9 100.00 1 NM_018847.4
    KY 100.00 1 NM_178554.6
    LAMA2 100.00 1 NM_000426.3
    LAMA5 100.00 1 NM_005560.6
    LAMB2 100.00 1 NM_002292.4
    LAMP2 100.00 1 NM_002294.3
    LARGE1 100.00 1 NM_004737.6
    LDB3 98.00 1 NM_001171610.2
    LDHA 100.00 1 NM_005566.4
    LGI4 100.00 1 NM_139284.3
    LIMS2 100.00 1 NM_017980.4
    LMNA 100.00 1 NM_170707.4
    LMOD3 100.00 1 NM_198271.5
    LPIN1 100.00 1 NM_001349206.2
    LRP4 100.00 1 NM_002334.4
    LRPPRC 100.00 1 NM_133259.4
    MAP3K20 100.00 1 NM_016653.3
    MATR3 100.00 1 NM_018834.6
    MCCC1 100.00 1 NM_020166.5
    MCCC2 100.00 1 NM_022132.5
    MEGF10 100.00 1 NM_001256545.2
    MGME1 100.00 1 NM_052865.4
    MPV17 100.00 1 NM_002437.5
    MSTN 100.00 1 NM_005259.3
    MTM1 100.00 1 NM_000252.3
    MTMR14 100.00 1 NM_001077525.3
    MUSK 100.00 1 NM_005592.4
    MYBPC1 100.00 1 NM_002465.4
    MYBPC3 100.00 1 NM_000256.3
    MYH2 100.00 1 NM_017534.6
    MYH3 100.00 1 NM_002470.4
    MYH7 100.00 1 NM_000257.4
    MYH8 100.00 1 NM_002472.3
    MYL1 100.00 1 NM_079420.3
    MYMK 100.00 1 NM_001080483.3
    MYO18B 100.00 1 NM_032608.7
    MYO9A 100.00 1 NM_006901.4
    MYOT 100.00 1 NM_006790.3
    MYPN 100.00 1 NM_032578.3
    NDUFA1 100.00 1 NM_004541.4
    NDUFA10 100.00 1 NM_004544.4
    NDUFA11 100.00 1 NM_175614.5
    NDUFA12 100.00 1 NM_018838.5
    NDUFA2 100.00 1 NM_002488.5
    NDUFA3 100.00 1 NM_004542.4
    NDUFA9 100.00 1 NM_005002.5
    NDUFAF1 100.00 1 NM_016013.4
    NDUFAF2 100.00 1 NM_174889.5
    NDUFAF5 100.00 1 NM_024120.5
    NDUFAF6 100.00 1 NM_152416.4
    NDUFS1 100.00 1 NM_005006.7
    NDUFS2 100.00 1 NM_004550.4
    NDUFS3 100.00 1 NM_004551.3
    NDUFS4 100.00 1 NM_002495.4
    NDUFS7 100.00 1 NM_024407.5
    NDUFS8 100.00 1 NM_002496.4
    NDUFV1 100.00 1 NM_007103.4
    NDUFV2 100.00 1 NM_021074.5
    NEB 88.00 1 NM_001271208.2
    NEFH 100.00 1 NM_021076.4
    NUBPL 100.00 1 NM_025152.3
    OPTN 100.00 1 NM_001008212.2
    ORAI1 100.00 1 NM_032790.3
    PABPN1 100.00 1 NM_004643.3
    PET100 100.00 1 NM_001171155.2
    PFKM 100.00 1 NM_000289.6
    PFN1 100.00 1 NM_005022.4
    PGAM2 100.00 1 NM_000290.4
    PGK1 100.00 1 NM_000291.4
    PGM1 100.00 1 NM_002633.3
    PHKA1 100.00 1 NM_002637.4
    PHKB 100.00 1 NM_000293.3
    PHKG1 100.00 1 NM_001258459.1
    PIEZO2 100.00 1 NM_022068.3
    PIP5K1C 100.00 1 NM_012398.3
    PLEC 100.00 1 NM_201380.4
    PLEKHG5 100.00 1 NM_001265592.1
    PNPLA2 100.00 1 NM_020376.4
    PNPLA8 100.00 1 NM_001256007.3
    POGLUT1 100.00 1 NM_152305.3
    POLG 100.00 1 NM_001126131.2
    POLG2 100.00 1 NM_007215.4
    POMGNT1 100.00 1 NM_001243766.1
    POMGNT2 100.00 1 NM_032806.6
    POMK 100.00 1 NM_032237.5
    POMT1 100.00 1 NM_001077365.2
    POMT2 100.00 1 NM_013382.5
    PREPL 100.00 1 NM_001171613.2
    PRKAG2 100.00 1 NM_016203.4
    PRPH 100.00 1 NM_006262.4
    PUS1 100.00 1 NM_025215.6
    PYGM 100.00 1 NM_005609.4
    PYROXD1 100.00 1 NM_024854.5
    RAPSN 100.00 1 NM_005055.5
    RBCK1 100.00 1 NM_031229.4
    RBM7 100.00 1 NM_001286045.1
    REEP1 100.00 1 NM_001371279.1
    RNASEH1 100.00 1 NM_002936.5
    RRM2B 100.00 1 NM_015713.5
    RXYLT1 100.00 1 NM_014254.3
    RYR1 100.00 1 NM_000540.3
    SCN4A 100.00 1 NM_000334.4
    SCO1 100.00 1 NM_004589.4
    SCO2 100.00 1 NM_005138.3
    SELENON 90.00 1 NM_020451.3
    SETX 100.00 1 NM_015046.7
    SGCA 100.00 1 NM_000023.4
    SGCB 100.00 1 NM_000232.5
    SGCD 100.00 1 XM_017009724.1
    SGCG 100.00 1 NM_000231.2
    SIGMAR1 100.00 1 NM_005866.4
    SIL1 100.00 1 NM_022464.5
    SLC18A3 100.00 1 NM_003055.3
    SLC22A5 100.00 1 NM_003060.4
    SLC25A20 100.00 1 NM_000387.6
    SLC25A4 100.00 1 NM_001151.4
    SLC52A2 100.00 1 NM_001363118.2
    SLC52A3 100.00 1 NM_033409.4
    SLC5A7 100.00 1 NM_021815.5
    SMCHD1 100.00 1 NM_015295.3
    SMN1 6.00 0 NM_000344.3+(exon 1 à 7 non couvert)
    SNAP25 100.00 1 NM_130811.4
    SOD1 100.00 1 NM_000454.5
    SPEG 100.00 1 NM_005876.5
    SPG11 100.00 1 NM_025137.4
    SPG7 100.00 1 NM_003119.4
    SPTBN4 100.00 1 NM_020971.3
    SQSTM1 100.00 1 NM_003900.5
    STAC3 100.00 1 NM_145064.3
    STIM1 100.00 1 NM_001277961.1
    SUCLA2 100.00 1 NM_003850.2
    SUCLG1 100.00 1 NM_003849.4
    SURF1 100.00 1 NM_003172.4
    SYNE1 100.00 1 NM_182961.4
    SYNE2 100.00 1 NM_182914.2
    SYT2 100.00 1 NM_177402.5
    TACO1 100.00 1 NM_016360.4
    TANGO2 100.00 1 NM_152906.7
    TARDBP 100.00 1 NM_007375.4
    TARS2 100.00 1 NM_025150.5
    TAFAZZIN 100.00 1 NM_000116.5
    TCAP 100.00 1 NM_003673.4
    TIA1 100.00 1 NM_022173.4
    TK2 100.00 1 NM_004614.5
    TMEM43 100.00 1 NM_024334.3
    TNNI2 100.00 1 NM_003282.4
    TNNT1 100.00 1 NM_003283.6
    TNNT3 100.00 1 NM_006757.4
    TNPO3 100.00 1 NM_012470.3
    TOP3A 100.00 1 NM_004618.5
    TOR1AIP1 100.00 1 NM_001267578.1
    TPM2 100.00 1 NM_003289.4
    TPM3 100.00 1 NM_152263.4
    TRAPPC11 100.00 1 NM_021942.6
    TRIM32 100.00 1 NM_012210.3
    TRIM54 100.00 1 NM_187841.3
    TRIM63 100.00 1 NM_032588.3
    TRIP4 100.00 1 NM_016213.5
    TRMT5 100.00 1 NM_020810.3
    TRPV4 100.00 1 NM_021625.5
    TSFM 100.00 1 NM_005726.6
    TTN 100.00 1 NM_001267550.2
    TUBA4A 100.00 1 NM_006000.3
    TWNK 100.00 1 NM_021830.5
    TYMP 100.00 1 NM_001257989.1
    UBA1 100.00 1 NM_003334.4
    UBQLN2 100.00 1 NM_013444.3
    VAMP1 100.00 1 NM_014231.5
    VAPB 100.00 1 NM_004738.5
    VARS1 100.00 1 NM_001167734.1
    VCP 100.00 1 NM_007126.5
    VMA21 100.00 1 NM_001363810.1
    VPS33B 100.00 1 NM_018668.5
    VRK1 100.00 1 NM_003384.3
    WARS1 100.00 1 NM_004184.4
    XK 100.00 1 NM_021083.4
    YARS2 100.00 1 NM_001040436.3
    ZC4H2 100.00 1 NM_018684.4
  • Myopathy (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD5 99.64 1
    ACAD9 99.97 1
    ACADM 99.64 1
    ACADS 100.00 1
    ACADVL 99.94 1
    ACTA1 99.99 1
    ACTN2 99.96 1
    ADSS1 99.99 1
    AGK 99.98 1
    AGL 99.92 1
    AGRN 99.83 1
    ALDOA 100.00 1
    ALG14 99.97 1
    ALG2 99.95 1
    ANO5 99.96 1
    ANXA11 99.88 1
    ASCC1 91.38 1
    ATP1A2 99.96 1
    ATP2A1 99.97 1
    B3GALNT2 94.03 1
    B4GAT1 99.95 1
    BAG3 100.00 1
    BIN1 100.00 1
    BVES 99.97 1
    CACNA1S 99.92 1
    CAP2 99.97 1
    CAPN3 99.98 1
    CASQ1 99.91 1
    CAV3 99.85 1
    CAVIN1 99.99 1
    CFL2 99.81 1
    CHAT 99.77 1
    CHD7 99.96 1
    CHKB 99.89 1
    CHRNA1 99.96 1
    CHRNB1 99.99 1
    CHRND 100.00 1
    CHRNE 99.95 1
    CHRNG 99.87 1
    CLCN1 99.97 1
    CNBP 99.97 1
    COL12A1 99.95 1
    COL13A1 99.56 1
    COL25A1 99.96 1
    COL6A1 100.00 1
    COL6A2 99.96 1
    COL6A3 99.99 1
    COLQ 99.97 1
    COX6A2 98.51 1
    CPT2 99.99 1
    CRPPA 99.59 1
    CRYAB 99.98 1
    DAG1 100.00 1
    DCST2 99.92 1
    DES 100.00 1
    DGUOK 99.76 1
    DMD 99.41 1
    DMPK 99.98 1
    DNAJB6 99.91 1
    DNM2 99.96 1
    DNMT3B 99.98 1
    DOK7 99.73 1
    DPAGT1 99.96 1
    DPM2 100.00 1
    DPM3 100.00 1
    DYSF 99.99 1
    EMD 97.92 1
    ENO3 99.98 1
    ETFA 99.84 1
    ETFDH 99.76 1
    FAM111B 99.99 1
    FDX2 99.94 1
    FHL1 99.92 1
    FKRP 99.99 1
    FKTN 99.91 1
    FLAD1 100.00 1
    FLNC 99.99 1
    FXR1 99.81 1
    GAA 99.99 1
    GBE1 99.84 1
    GFER 99.96 1
    GFPT1 99.90 1
    GGPS1 99.89 1
    GMPPB 99.95 1
    GNE 99.98 1
    GYG1 99.97 1
    GYS1 99.98 1
    HACD1 99.78 1
    HADH 99.97 1
    HADHA 99.96 1
    HADHB 99.97 1
    HNRNPA1 100.00 1
    HNRNPA2B1 99.95 1
    HNRNPDL 99.92 1
    INPP5K 99.99 1
    ISCU 99.94 1
    ITGA7 99.98 1
    ITGA9 99.80 1
    JAG2 98.50 1
    KBTBD13 100.00 1
    KCNJ2 100.00 1
    KIF21A 99.80 1
    KLHL40 100.00 1
    KLHL41 99.96 1
    KLHL9 100.00 1
    KY 98.80 1
    LAMA2 99.97 1
    LAMB2 99.99 1
    LAMP2 98.98 1
    LARGE1 99.99 1
    LDB3 98.02 1
    LDHA 99.77 1
    LIMS2 99.65 1
    LMNA 99.98 1
    LMOD3 99.96 1
    LPIN1 99.97 1
    LRP4 99.98 1
    MAP3K20 99.92 1
    MATR3 99.87 1
    MB 99.99 1
    MEGF10 99.90 1
    MICU1 99.98 1
    MLIP 99.94 1
    MSTO1 98.87 1
    MTM1 99.36 1
    MUSK 99.97 1
    MYBPC1 99.90 1
    MYBPC3 99.98 1
    MYH14 99.79 1
    MYH2 99.97 1
    MYH3 99.96 1
    MYH7 100.00 1
    MYL1 99.93 1
    MYL2 99.98 1
    MYMX 100.00 1
    MYO18B 99.98 1
    MYO9A 99.91 1
    MYOD1 99.82 1
    MYOT 99.98 1
    MYPN 99.97 1
    NEB 99.77 1
    NPL 99.95 1
    OPA1 99.87 1
    ORAI1 97.73 1
    PABPN1 99.67 1
    PAX7 99.96 1
    PFKM 99.82 1
    PGAM2 100.00 1
    PGK1 99.71 1
    PGM1 99.89 1
    PHKA1 99.57 1
    PHKB 99.79 1
    PHOX2A 96.75 1
    PLEC 99.98 1
    PNPLA2 99.99 1
    PNPLA8 99.81 1
    POGLUT1 99.91 1
    POLG 99.98 1
    POLG2 99.68 1
    POMGNT1 99.98 1
    POMGNT2 100.00 1
    POMK 99.98 1
    POMT1 99.91 1
    POMT2 99.93 1
    POPDC3 99.93 1
    PREPL 99.96 1
    PRKAG2 99.92 1
    PYGM 99.98 1
    PYROXD1 99.83 1
    RAPSN 99.99 1
    RBCK1 99.99 1
    RXYLT1 99.53 1
    RYR1 99.92 1
    SCN4A 99.77 1
    SELENON 95.81 1
    SGCA 99.99 1
    SGCB 99.62 1
    SGCD 99.94 1
    SGCG 99.87 1
    SIL1 99.99 1
    SLC18A3 100.00 1
    SLC22A5 99.99 1
    SLC25A20 99.90 1
    SLC25A4 99.96 1
    SLC5A7 99.97 1
    SMCHD1 99.82 1
    SMPX 99.37 1
    SPEG 99.97 1
    SQSTM1 100.00 1
    STAC3 99.94 1
    STIM1 99.97 1
    SVIL 99.94 1
    SYNE1 99.96 1
    SYNE2 99.85 1
    SYT2 99.89 1
    TCAP 100.00 1
    TIA1 99.56 1
    TK2 99.99 1
    TMEM126B 99.68 1
    TMEM43 99.98 1
    TNNC2 99.95 1
    TNNI2 100.00 1
    TNNT1 99.82 1
    TNNT3 100.00 1
    TNPO3 99.95 1
    TNXB 99.95 1
    TOP3A 99.95 1
    TOR1AIP1 99.84 1
    TPI1 99.95 1
    TPM2 99.93 1
    TPM3 99.95 1
    TRAPPC11 99.59 1
    TRDN 99.03 1
    TRIM32 100.00 1
    TRIP4 99.91 1
    TRMT5 99.83 1
    TTN 99.96 1
    TUBB3 100.00 1
    TWNK 100.00 1
    UNC45B 99.93 1
    VAMP1 99.70 1
    VCP 99.92 1
    VMA21 97.04 1
    VWA1 91.35 1
  • Neurodegeneration (99 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANG 100.00 1 NM_001145.4
    ANXA11 100.00 1 NM_145868.2
    APP 100.00 1 NM_000484.4
    ATP13A2 100.00 1 NM_022089.4
    CHMP2B 100.00 1 NM_014043.4
    DCTN1 100.00 1 NM_004082.4
    ERBB4 100.00 1 NM_005235.3
    FIG4 100.00 1 NM_014845.6
    FUS 100.00 1 NM_004960.4
    GBA1 100.00 1 NM_000157.4
    GRN 100.00 1 NM_002087.3
    KIF5A 100.00 1 NM_004984.4
    LRRK2 100.00 1 NM_198578.4
    MAPT 100.00 1 NM_001123066.3
    MATR3 100.00 1 NM_018834.6
    NEFH 100.00 1 NM_021076.4
    NEK1 100.00 1 NM_001199397.3
    NOTCH3 100.00 1 NM_000435.3
    OPTN 100.00 1 NM_001008212.2
    PARK7 100.00 1 NM_007262.5
    PFN1 100.00 1 NM_005022.4
    PINK1 100.00 1 NM_032409.3
    PRKN 100.00 1 NM_004562.3
    PRNP 100.00 1 NM_000311.5
    PRPH 100.00 1 NM_006262.4
    PSEN1 100.00 1 NM_000021.4
    PSEN2 100.00 1 NM_000447.3
    SETX 100.00 1 NM_015046.7
    SIGMAR1 100.00 1 NM_005866.4
    SNCA 100.00 1 NM_000345.4
    SOD1 100.00 1 NM_000454.5
    SPG11 100.00 1 NM_025137.4
    TARDBP 100.00 1 NM_007375.4
    TUBA4A 100.00 1 NM_006000.3
    UBQLN2 100.00 1 NM_013444.3
    VAPB 100.00 1 NM_004738.5
    VCP 100.00 1 NM_007126.5
    AARS2 100.00 1 NM_020745.4
    ABAT 100.00 1 NM_020686.6
    ABCB7 100.00 1 NM_001271696.3
    ABCD1 100.00 1 NM_000033.4
    ADPRS 100.00 1 NM_017825.3
    AFG3L2 100.00 1 NM_006796.3
    AP5Z1 100.00 1 NM_014855.3
    APOE 100.00 1 NM_000041.4
    ARSA 100.00 1 NM_000487.6
    ATP1A3 100.00 1 NM_152296.5
    ATP6AP2 100.00 1 NM_005765.3
    C19ORF12 100.00 1 NM_031448.6
    C9ORF72 100.00 1 NM_018325.5
    CCNF 100.00 1 NM_001761.3
    CHCHD10 100.00 1 NM_213720.3
    CHCHD2 100.00 1 NM_016139.4
    CLN3 100.00 1 NM_001042432.2
    CLN5 100.00 1 NM_006493.4
    CLN6 100.00 1 NM_017882.3
    CLN8 100.00 1 NM_018941.4
    COA7 100.00 1 NM_023077.3
    COASY 100.00 1 NM_025233.7
    CRAT 100.00 1 NM_000755.5
    CSF1R 100.00 1 NM_005211.3
    CTSD 100.00 1 NM_001909.5
    CTSF 100.00 1 NM_003793.4
    DNAJC13 100.00 1 NM_015268.4
    DNAJC5 100.00 1 NM_025219.3
    DNAJC6 100.00 1 NM_001256864.2
    EIF4G1 100.00 1 NM_198241.3
    FA2H 100.00 1 NM_024306.5
    FBXO7 100.00 1 NM_012179.4
    FTL 100.00 1 NM_000146.4
    FXN 100.00 1 NM_000144.5
    GCH1 100.00 1 NM_000161.3
    GIGYF2 100.00 1 NM_001103146.3
    GLUD2 100.00 1 NM_012084.4
    GRID2 100.00 1 NM_001510.4
    IREB2 100.00 1 NM_004136.4
    ITM2B 100.00 1 NM_021999.5
    KLC4 100.00 1 NM_201521.3
    MFSD8 100.00 1 NM_001371596.2
    NPC1 100.00 1 NM_000271.5
    NPC2 100.00 1 NM_006432.5
    PANK2 100.00 1 NM_153638.3
    PGAP1 100.00 1 NM_024989.4
    PLA2G6 100.00 1 NM_003560.4
    PODXL 94.00 1 NM_001018111.3
    POLG 100.00 1 NM_001126131.2
    PPT1 100.00 1 NM_000310.4
    RAB18 100.00 1 NM_021252.5
    REPS1 100.00 1 NM_001286611.1
    SLC6A3 100.00 1 NM_001044.5
    SPG21 100.00 1 NM_016630.7
    SQSTM1 100.00 1 NM_003900.5
    SYNJ1 100.00 1 NM_003895.3
    TBK1 100.00 1 NM_013254.4
    UBTF 100.00 1 NM_014233.4
    UCHL1 100.00 1 NM_004181.5
    VPS13C 100.00 1 NM_020821.3
    VPS35 100.00 1 NM_018206.6
    WDR45 100.00 1 NM_001029896.2
  • Neurodevelopmental disorders (1300 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 100.00 0 Neurodevelopmental disorders
    ABCC6 99.95 0 Neurodevelopmental disorders
    ABCC9 99.93 0 Neurodevelopmental disorders
    ABCD1 97.56 0 Neurodevelopmental disorders
    ABCD4 100.00 0 Neurodevelopmental disorders
    ABCG5 99.99 0 Neurodevelopmental disorders
    ABHD5 99.85 0 Neurodevelopmental disorders
    ABI2 100.00 0 Neurodevelopmental disorders
    ACAD9 100.00 0 Neurodevelopmental disorders
    ACAT1 93.45 0 Neurodevelopmental disorders
    ACO2 100.00 0 Neurodevelopmental disorders
    ACOX1 100.00 0 Neurodevelopmental disorders
    ACSF3 99.86 0 Neurodevelopmental disorders
    ACSL4 99.98 0 Neurodevelopmental disorders
    ACTB 100.00 0 Neurodevelopmental disorders
    ACTG1 100.00 0 Neurodevelopmental disorders
    ACVR1 100.00 0 Neurodevelopmental disorders
    ACY1 100.00 0 Neurodevelopmental disorders
    ADAR 100.00 0 Neurodevelopmental disorders
    ADAT3 99.45 0 Neurodevelopmental disorders
    COQ8A 99.92 0 Neurodevelopmental disorders
    ADCY5 99.17 0 Neurodevelopmental disorders
    ADK 100.00 0 Neurodevelopmental disorders
    ADNP 100.00 0 Neurodevelopmental disorders
    ADORA1 100.00 0 Neurodevelopmental disorders
    ADRA2B 100.00 0 Neurodevelopmental disorders
    ADSL 100.00 0 Neurodevelopmental disorders
    AFF2 99.91 0 Neurodevelopmental disorders
    AFF3 100.00 0 Neurodevelopmental disorders
    AFP 100.00 0 Neurodevelopmental disorders
    AGA 100.00 0 Neurodevelopmental disorders
    AGAP2 98.60 0 Neurodevelopmental disorders
    AGBL4 100.00 0 Neurodevelopmental disorders
    AGL 100.00 0 Neurodevelopmental disorders
    AGPAT2 93.10 0 Neurodevelopmental disorders
    AGXT 100.00 0 Neurodevelopmental disorders
    AGTR2 100.00 0 Neurodevelopmental disorders
    AHCY 100.00 0 Neurodevelopmental disorders
    AHDC1 99.99 0 Neurodevelopmental disorders
    AHI1 100.00 0 Neurodevelopmental disorders
    AIFM1 99.98 0 Neurodevelopmental disorders
    AIMP1 99.97 0 Neurodevelopmental disorders
    AIMP2 96.68 0 Neurodevelopmental disorders
    AK1 100.00 0 Neurodevelopmental disorders
    AKT1 100.00 0 Neurodevelopmental disorders
    AKT3 100.00 0 Neurodevelopmental disorders
    ALDH18A1 100.00 0 Neurodevelopmental disorders
    ALDH3A2 99.94 0 Neurodevelopmental disorders
    ALDH4A1 96.50 0 Neurodevelopmental disorders
    ALDH5A1 84.13 0 Neurodevelopmental disorders
    ALG1 78.28 0 Neurodevelopmental disorders
    ALG11 100.00 0 Neurodevelopmental disorders
    ALG12 100.00 0 Neurodevelopmental disorders
    ALG13 99.53 0 Neurodevelopmental disorders
    ALG2 99.83 0 Neurodevelopmental disorders
    ALG3 93.20 0 Neurodevelopmental disorders
    ALG6 100.00 0 Neurodevelopmental disorders
    ALG9 98.18 0 Neurodevelopmental disorders
    ALX1 100.00 0 Neurodevelopmental disorders
    ALX4 98.04 0 Neurodevelopmental disorders
    AMER1 99.97 0 Neurodevelopmental disorders
    AMPD2 99.90 0 Neurodevelopmental disorders
    AMT 100.00 0 Neurodevelopmental disorders
    ANK2 99.99 0 Neurodevelopmental disorders
    ANK3 100.00 0 Neurodevelopmental disorders
    ANKH 100.00 0 Neurodevelopmental disorders
    ANKRD11 100.00 0 Neurodevelopmental disorders
    ANO10 100.00 0 Neurodevelopmental disorders
    ANO3 100.00 0 Neurodevelopmental disorders
    ANO5 100.00 0 Neurodevelopmental disorders
    ANTXR1 99.97 0 Neurodevelopmental disorders
    AP1S1 100.00 0 Neurodevelopmental disorders
    AP1S2 100.00 0 Neurodevelopmental disorders
    AP3B1 100.00 0 Neurodevelopmental disorders
    AP4B1 100.00 0 Neurodevelopmental disorders
    AP4E1 99.99 0 Neurodevelopmental disorders
    AP4M1 100.00 0 Neurodevelopmental disorders
    AP4S1 100.00 0 Neurodevelopmental disorders
    APAF1 100.00 0 Neurodevelopmental disorders
    APC 100.00 0 Neurodevelopmental disorders
    APOB 98.90 0 Neurodevelopmental disorders
    APTX 99.96 0 Neurodevelopmental disorders
    AQP7 99.59 0 Neurodevelopmental disorders
    AR 100.00 0 Neurodevelopmental disorders
    ARFGEF2 100.00 0 Neurodevelopmental disorders
    ARG1 100.00 0 Neurodevelopmental disorders
    ARHGAP11A 100.00 0 Neurodevelopmental disorders
    ARHGAP24 99.97 0 Neurodevelopmental disorders
    ARHGEF2 100.00 0 Neurodevelopmental disorders
    ARHGEF4 99.85 0 Neurodevelopmental disorders
    ARHGEF6 100.00 0 Neurodevelopmental disorders
    ARHGEF9 99.92 0 Neurodevelopmental disorders
    ARID1A 97.21 0 Neurodevelopmental disorders
    ARID1B 98.17 0 Neurodevelopmental disorders
    ARL13B 99.98 0 Neurodevelopmental disorders
    ARL3 99.80 0 Neurodevelopmental disorders
    ARL6 100.00 0 Neurodevelopmental disorders
    ARMC9 100.00 0 Neurodevelopmental disorders
    ARSL 99.92 0 Neurodevelopmental disorders
    ARX 88.86 0 Neurodevelopmental disorders
    ASH1L 100.00 0 Neurodevelopmental disorders
    ASL 99.96 0 Neurodevelopmental disorders
    ASNS 97.93 0 Neurodevelopmental disorders
    ASPA 100.00 0 Neurodevelopmental disorders
    ASPM 100.00 0 Neurodevelopmental disorders
    ASS1 98.12 0 Neurodevelopmental disorders
    ASTN2 98.47 0 Neurodevelopmental disorders
    ASXL1 99.93 0 Neurodevelopmental disorders
    ASXL3 100.00 0 Neurodevelopmental disorders
    ATG5 100.00 0 Neurodevelopmental disorders
    ATIC 97.39 0 Neurodevelopmental disorders
    ATL1 99.89 0 Neurodevelopmental disorders
    ATM 100.00 0 Neurodevelopmental disorders
    ATP13A2 98.30 0 Neurodevelopmental disorders
    ATP1A2 99.94 0 Neurodevelopmental disorders
    ATP2A2 100.00 0 Neurodevelopmental disorders
    ATP6AP2 98.57 0 Neurodevelopmental disorders
    ATP6V0A2 99.97 0 Neurodevelopmental disorders
    ATP7A 100.00 0 Neurodevelopmental disorders
    ATP8A2 99.91 0 Neurodevelopmental disorders
    ATRX 99.89 0 Neurodevelopmental disorders
    ATXN1 100.00 0 Neurodevelopmental disorders
    ATXN7 98.67 0 Neurodevelopmental disorders
    AUH 99.24 0 Neurodevelopmental disorders
    AUTS2 99.82 0 Neurodevelopmental disorders
    NLRP3 100.00 0 Neurodevelopmental disorders
    AVPR2 99.37 0 Neurodevelopmental disorders
    AXIN1 100.00 0 Neurodevelopmental disorders
    AXL 100.00 0 Neurodevelopmental disorders
    B3GLCT 94.30 0 Neurodevelopmental disorders
    B4GAT1 99.99 0 Neurodevelopmental disorders
    B4GALT1 100.00 0 Neurodevelopmental disorders
    B4GALT7 90.50 0 Neurodevelopmental disorders
    BBS1 100.00 0 Neurodevelopmental disorders
    BBS10 100.00 0 Neurodevelopmental disorders
    BBS12 100.00 0 Neurodevelopmental disorders
    BBS2 100.00 0 Neurodevelopmental disorders
    BBS4 99.97 0 Neurodevelopmental disorders
    BBS5 100.00 0 Neurodevelopmental disorders
    BBS7 99.99 0 Neurodevelopmental disorders
    BBS9 99.93 0 Neurodevelopmental disorders
    BCKDHA 99.90 0 Neurodevelopmental disorders
    BCKDHB 100.00 0 Neurodevelopmental disorders
    BCL11A 100.00 0 Neurodevelopmental disorders
    BCOR 99.79 0 Neurodevelopmental disorders
    BCS1L 100.00 0 Neurodevelopmental disorders
    BIN1 99.94 0 Neurodevelopmental disorders
    BIRC6 99.99 0 Neurodevelopmental disorders
    BLM 100.00 0 Neurodevelopmental disorders
    BRAF 96.83 0 Neurodevelopmental disorders
    BRCA2 100.00 0 Neurodevelopmental disorders
    BRD4 99.43 0 Neurodevelopmental disorders
    BRF1 93.75 0 Neurodevelopmental disorders
    BRIP1 100.00 0 Neurodevelopmental disorders
    BRWD3 99.91 0 Neurodevelopmental disorders
    BSCL2 100.00 0 Neurodevelopmental disorders
    BTD 100.00 0 Neurodevelopmental disorders
    BUB1B 100.00 0 Neurodevelopmental disorders
    TSPOAP1 99.52 0 Neurodevelopmental disorders
    TWNK 100.00 0 Neurodevelopmental disorders
    C12ORF57 100.00 0 Neurodevelopmental disorders
    MTRFR 100.00 0 Neurodevelopmental disorders
    DIPK2A 98.86 0 Neurodevelopmental disorders
    CPLANE1 100.00 0 Neurodevelopmental disorders
    CARNMT1 97.76 0 Neurodevelopmental disorders
    CA2 99.97 0 Neurodevelopmental disorders
    CA8 100.00 0 Neurodevelopmental disorders
    CACNA1A 99.53 0 Neurodevelopmental disorders
    CACNA1B 99.04 0 Neurodevelopmental disorders
    CACNA1C 99.97 0 Neurodevelopmental disorders
    CACNA1D 99.81 0 Neurodevelopmental disorders
    CACNA1F 99.02 0 Neurodevelopmental disorders
    CACNA1G 99.97 0 Neurodevelopmental disorders
    CACNA1H 98.10 0 Neurodevelopmental disorders
    CACNA2D3 99.31 0 Neurodevelopmental disorders
    CACNB2 100.00 0 Neurodevelopmental disorders
    CACNG2 100.00 0 Neurodevelopmental disorders
    CACNG7 99.94 0 Neurodevelopmental disorders
    CALM1 100.00 0 Neurodevelopmental disorders
    CAMTA1 99.98 0 Neurodevelopmental disorders
    CANT1 100.00 0 Neurodevelopmental disorders
    CAPN12 100.00 0 Neurodevelopmental disorders
    CASK 99.99 0 Neurodevelopmental disorders
    CBL 100.00 0 Neurodevelopmental disorders
    CBS 99.85 0 Neurodevelopmental disorders
    CC2D1A 99.45 0 Neurodevelopmental disorders
    CC2D2A 100.00 0 Neurodevelopmental disorders
    CCAR2 99.98 0 Neurodevelopmental disorders
    CCBE1 99.32 0 Neurodevelopmental disorders
    CFAP53 100.00 0 Neurodevelopmental disorders
    CCDC174 100.00 0 Neurodevelopmental disorders
    CCDC22 97.87 0 Neurodevelopmental disorders
    CCDC39 100.00 0 Neurodevelopmental disorders
    CCDC78 100.00 0 Neurodevelopmental disorders
    CCDC88C 99.64 0 Neurodevelopmental disorders
    CCNT1 100.00 0 Neurodevelopmental disorders
    CCSER1 100.00 0 Neurodevelopmental disorders
    CD163L1 99.94 0 Neurodevelopmental disorders
    CDC42BPB 99.67 0 Neurodevelopmental disorders
    CDH11 100.00 0 Neurodevelopmental disorders
    CDH15 94.37 0 Neurodevelopmental disorders
    CDK5RAP2 100.00 0 Neurodevelopmental disorders
    CDKL5 99.77 0 Neurodevelopmental disorders
    CDKN1C 85.53 0 Neurodevelopmental disorders
    CDON 100.00 0 Neurodevelopmental disorders
    CELSR1 95.69 0 Neurodevelopmental disorders
    CENPJ 100.00 0 Neurodevelopmental disorders
    CEP135 99.96 0 Neurodevelopmental disorders
    CEP152 100.00 0 Neurodevelopmental disorders
    CEP290 100.00 0 Neurodevelopmental disorders
    CEP41 100.00 0 Neurodevelopmental disorders
    CEP57 100.00 0 Neurodevelopmental disorders
    CHAMP1 100.00 0 Neurodevelopmental disorders
    CHAT 99.97 0 Neurodevelopmental disorders
    CHD1 100.00 0 Neurodevelopmental disorders
    CHD1L 99.95 0 Neurodevelopmental disorders
    CHD2 100.00 0 Neurodevelopmental disorders
    CHD3 97.53 0 Neurodevelopmental disorders
    CHD4 99.13 0 Neurodevelopmental disorders
    CHD7 100.00 0 Neurodevelopmental disorders
    CHD8 100.00 0 Neurodevelopmental disorders
    CHKB 99.75 0 Neurodevelopmental disorders
    CHRNA2 99.99 0 Neurodevelopmental disorders
    CHRNA4 94.66 0 Neurodevelopmental disorders
    CHRND 100.00 0 Neurodevelopmental disorders
    CHST11 100.00 0 Neurodevelopmental disorders
    CIC 99.22 0 Neurodevelopmental disorders
    CLCN4 100.00 0 Neurodevelopmental disorders
    CLCN7 95.85 0 Neurodevelopmental disorders
    CLCNKB 99.96 0 Neurodevelopmental disorders
    CLIC2 99.96 0 Neurodevelopmental disorders
    CLIP1 100.00 0 Neurodevelopmental disorders
    CLN3 100.00 0 Neurodevelopmental disorders
    CLN5 98.80 0 Neurodevelopmental disorders
    CLN6 100.00 0 Neurodevelopmental disorders
    CLN8 100.00 0 Neurodevelopmental disorders
    CLPB 99.94 0 Neurodevelopmental disorders
    CMIP 99.43 0 Neurodevelopmental disorders
    CNKSR2 99.82 0 Neurodevelopmental disorders
    CNOT1 99.97 0 Neurodevelopmental disorders
    CNOT3 100.00 0 Neurodevelopmental disorders
    CNOT4 100.00 0 Neurodevelopmental disorders
    CNOT6 100.00 0 Neurodevelopmental disorders
    CNTN3 100.00 0 Neurodevelopmental disorders
    CNTN4 100.00 0 Neurodevelopmental disorders
    CNTNAP2 99.10 0 Neurodevelopmental disorders
    COA3 100.00 0 Neurodevelopmental disorders
    COG1 99.01 0 Neurodevelopmental disorders
    COG5 99.95 0 Neurodevelopmental disorders
    COG6 100.00 0 Neurodevelopmental disorders
    COG7 100.00 0 Neurodevelopmental disorders
    COG8 99.96 0 Neurodevelopmental disorders
    COL11A1 100.00 0 Neurodevelopmental disorders
    COL1A2 99.33 0 Neurodevelopmental disorders
    COL25A1 99.96 0 Neurodevelopmental disorders
    COL27A1 99.65 0 Neurodevelopmental disorders
    COL4A1 98.48 0 Neurodevelopmental disorders
    COL4A2 100.00 0 Neurodevelopmental disorders
    CERT1 99.99 0 Neurodevelopmental disorders
    COLEC11 100.00 0 Neurodevelopmental disorders
    COPB2 99.91 0 Neurodevelopmental disorders
    COQ2 99.66 0 Neurodevelopmental disorders
    COX10 100.00 0 Neurodevelopmental disorders
    COX15 99.99 0 Neurodevelopmental disorders
    CP 100.00 0 Neurodevelopmental disorders
    CYP2A6 100.00 0 Neurodevelopmental disorders
    CYP21A2 100.00 0 Neurodevelopmental disorders
    CRADD 100.00 0 Neurodevelopmental disorders
    CRBN 100.00 0 Neurodevelopmental disorders
    CREB1 99.99 0 Neurodevelopmental disorders
    CREBBP 99.97 0 Neurodevelopmental disorders
    CSMD1 100.00 0 Neurodevelopmental disorders
    CSNK2A1 100.00 0 Neurodevelopmental disorders
    CSTF2T 100.00 0 Neurodevelopmental disorders
    CTC1 99.70 0 Neurodevelopmental disorders
    CTCF 100.00 0 Neurodevelopmental disorders
    CTDP1 92.47 0 Neurodevelopmental disorders
    CTNNB1 100.00 0 Neurodevelopmental disorders
    CTSA 99.94 0 Neurodevelopmental disorders
    CTSD 93.41 0 Neurodevelopmental disorders
    CTTNBP2 99.83 0 Neurodevelopmental disorders
    CUBN 100.00 0 Neurodevelopmental disorders
    CUL3 100.00 0 Neurodevelopmental disorders
    CUL4B 99.51 0 Neurodevelopmental disorders
    CUL5 99.99 0 Neurodevelopmental disorders
    CUX2 99.78 0 Neurodevelopmental disorders
    CYB5R3 100.00 0 Neurodevelopmental disorders
    CYFIP1 99.90 0 Neurodevelopmental disorders
    CYP27A1 99.38 0 Neurodevelopmental disorders
    D2HGDH 99.95 0 Neurodevelopmental disorders
    DAG1 100.00 0 Neurodevelopmental disorders
    DAGLA 99.99 0 Neurodevelopmental disorders
    DARS2 100.00 0 Neurodevelopmental disorders
    DBT 100.00 0 Neurodevelopmental disorders
    DCAF17 96.96 0 Neurodevelopmental disorders
    DCPS 100.00 0 Neurodevelopmental disorders
    DCX 99.94 0 Neurodevelopmental disorders
    DDHD2 100.00 0 Neurodevelopmental disorders
    DDX11 99.92 0 Neurodevelopmental disorders
    DDX3X 100.00 0 Neurodevelopmental disorders
    DEAF1 97.27 0 Neurodevelopmental disorders
    DHCR24 98.73 0 Neurodevelopmental disorders
    DHCR7 99.97 0 Neurodevelopmental disorders
    DHFR 91.86 0 Neurodevelopmental disorders
    DHTKD1 99.54 0 Neurodevelopmental disorders
    DHX9 100.00 0 Neurodevelopmental disorders
    DIAPH1 99.95 0 Neurodevelopmental disorders
    DIAPH3 100.00 0 Neurodevelopmental disorders
    DIP2A 99.87 0 Neurodevelopmental disorders
    DIP2B 99.66 0 Neurodevelopmental disorders
    DISC1 0.00 0 Neurodevelopmental disorders
    DKC1 99.88 0 Neurodevelopmental disorders
    DLD 100.00 0 Neurodevelopmental disorders
    DLG2 100.00 0 Neurodevelopmental disorders
    DLG3 99.58 0 Neurodevelopmental disorders
    DLG4 100.00 0 Neurodevelopmental disorders
    DLGAP1 99.92 0 Neurodevelopmental disorders
    DMD 99.96 0 Neurodevelopmental disorders
    DMPK 99.91 0 Neurodevelopmental disorders
    DNAH5 100.00 0 Neurodevelopmental disorders
    DNAJC19 99.65 0 Neurodevelopmental disorders
    DNM1 93.52 0 Neurodevelopmental disorders
    DNMT1 99.54 0 Neurodevelopmental disorders
    DNMT3A 99.73 0 Neurodevelopmental disorders
    DNMT3B 100.00 0 Neurodevelopmental disorders
    DOCK6 99.15 0 Neurodevelopmental disorders
    DOCK8 99.94 0 Neurodevelopmental disorders
    DPAGT1 100.00 0 Neurodevelopmental disorders
    DPF2 100.00 0 Neurodevelopmental disorders
    DPH1 99.97 0 Neurodevelopmental disorders
    DPM1 100.00 0 Neurodevelopmental disorders
    DPP6 99.83 0 Neurodevelopmental disorders
    DPYD 100.00 0 Neurodevelopmental disorders
    DSCAM 99.93 0 Neurodevelopmental disorders
    DST 100.00 0 Neurodevelopmental disorders
    DUSP15 83.59 0 Neurodevelopmental disorders
    DYM 100.00 0 Neurodevelopmental disorders
    DYNC1H1 99.92 0 Neurodevelopmental disorders
    DYRK1A 100.00 0 Neurodevelopmental disorders
    GLB1 100.00 0 Neurodevelopmental disorders
    ECM2 100.00 0 Neurodevelopmental disorders
    EDC3 100.00 0 Neurodevelopmental disorders
    EFCAB5 99.99 0 Neurodevelopmental disorders
    EFNB1 100.00 0 Neurodevelopmental disorders
    EFNB2 100.00 0 Neurodevelopmental disorders
    EFL1 100.00 0 Neurodevelopmental disorders
    EFTUD2 99.99 0 Neurodevelopmental disorders
    EHMT1 97.78 0 Neurodevelopmental disorders
    EI24 99.67 0 Neurodevelopmental disorders
    EIF2AK3 96.33 0 Neurodevelopmental disorders
    EIF2S3 100.00 0 Neurodevelopmental disorders
    EIF3G 100.00 0 Neurodevelopmental disorders
    EIF4A1 99.36 0 Neurodevelopmental disorders
    EIF4G1 100.00 0 Neurodevelopmental disorders
    ELAVL2 100.00 0 Neurodevelopmental disorders
    ELK1 99.85 0 Neurodevelopmental disorders
    ELOVL4 100.00 0 Neurodevelopmental disorders
    ELP2 100.00 0 Neurodevelopmental disorders
    EMC1 100.00 0 Neurodevelopmental disorders
    EML1 98.26 0 Neurodevelopmental disorders
    EMX2 99.97 0 Neurodevelopmental disorders
    EN2 99.85 0 Neurodevelopmental disorders
    EP300 100.00 0 Neurodevelopmental disorders
    EP400 100.00 0 Neurodevelopmental disorders
    EPB41L1 100.00 0 Neurodevelopmental disorders
    EPHA5 99.93 0 Neurodevelopmental disorders
    EPHB2 96.50 0 Neurodevelopmental disorders
    ERBIN 100.00 0 Neurodevelopmental disorders
    ERBB4 100.00 0 Neurodevelopmental disorders
    ERCC2 99.22 0 Neurodevelopmental disorders
    ERCC3 100.00 0 Neurodevelopmental disorders
    ERCC5 100.00 0 Neurodevelopmental disorders
    ERCC6 100.00 0 Neurodevelopmental disorders
    ERCC8 100.00 0 Neurodevelopmental disorders
    ERLIN2 100.00 0 Neurodevelopmental disorders
    ESCO2 100.00 0 Neurodevelopmental disorders
    ETFB 100.00 0 Neurodevelopmental disorders
    ETHE1 97.84 0 Neurodevelopmental disorders
    EXOC3L2 99.73 0 Neurodevelopmental disorders
    EXOSC3 100.00 0 Neurodevelopmental disorders
    EXT1 100.00 0 Neurodevelopmental disorders
    EZH2 100.00 0 Neurodevelopmental disorders
    EZR 100.00 0 Neurodevelopmental disorders
    F5 99.99 0 Neurodevelopmental disorders
    FAAH2 100.00 0 Neurodevelopmental disorders
    OTULIN 87.40 0 Neurodevelopmental disorders
    HYCC1 100.00 0 Neurodevelopmental disorders
    FAM177A1 100.00 0 Neurodevelopmental disorders
    FANCB 100.00 0 Neurodevelopmental disorders
    FANCD2 100.00 0 Neurodevelopmental disorders
    FANCG 99.98 0 Neurodevelopmental disorders
    FBLN5 100.00 0 Neurodevelopmental disorders
    FBN1 100.00 0 Neurodevelopmental disorders
    FBN2 100.00 0 Neurodevelopmental disorders
    FBXO31 94.11 0 Neurodevelopmental disorders
    FBXO33 92.42 0 Neurodevelopmental disorders
    FEZF2 99.95 0 Neurodevelopmental disorders
    FGD1 99.24 0 Neurodevelopmental disorders
    FGF14 100.00 0 Neurodevelopmental disorders
    FGFR1 99.94 0 Neurodevelopmental disorders
    FGFR2 100.00 0 Neurodevelopmental disorders
    FGFR3 99.24 0 Neurodevelopmental disorders
    FGG 100.00 0 Neurodevelopmental disorders
    FH 100.00 0 Neurodevelopmental disorders
    FHIT 100.00 0 Neurodevelopmental disorders
    FIGN 100.00 0 Neurodevelopmental disorders
    FKRP 100.00 0 Neurodevelopmental disorders
    FKTN 100.00 0 Neurodevelopmental disorders
    FLNA 99.75 0 Neurodevelopmental disorders
    FLVCR1 100.00 0 Neurodevelopmental disorders
    FMN2 100.00 0 Neurodevelopmental disorders
    FMR1 99.99 0 Neurodevelopmental disorders
    FOLR1 100.00 0 Neurodevelopmental disorders
    FOXG1 92.10 0 Neurodevelopmental disorders
    FOXP1 100.00 0 Neurodevelopmental disorders
    FOXP2 99.61 0 Neurodevelopmental disorders
    FOXP3 99.44 0 Neurodevelopmental disorders
    FRAS1 100.00 0 Neurodevelopmental disorders
    FRMPD4 99.90 0 Neurodevelopmental disorders
    FRRS1L 82.37 0 Neurodevelopmental disorders
    FTCD 96.32 0 Neurodevelopmental disorders
    FTO 100.00 0 Neurodevelopmental disorders
    FTSJ1 100.00 0 Neurodevelopmental disorders
    FUCA1 99.91 0 Neurodevelopmental disorders
    FXR1 99.74 0 Neurodevelopmental disorders
    G6PC3 100.00 0 Neurodevelopmental disorders
    GABRA1 100.00 0 Neurodevelopmental disorders
    GABRA5 100.00 0 Neurodevelopmental disorders
    GABRB3 100.00 0 Neurodevelopmental disorders
    GABRG2 91.70 0 Neurodevelopmental disorders
    GABRG3 99.57 0 Neurodevelopmental disorders
    GAD1 100.00 0 Neurodevelopmental disorders
    GALE 100.00 0 Neurodevelopmental disorders
    GALK1 99.40 0 Neurodevelopmental disorders
    GALNT18 100.00 0 Neurodevelopmental disorders
    GALT 100.00 0 Neurodevelopmental disorders
    GAMT 97.00 0 Neurodevelopmental disorders
    GAN 98.52 0 Neurodevelopmental disorders
    GARNL3 100.00 0 Neurodevelopmental disorders
    GARS1 97.89 0 Neurodevelopmental disorders
    GAS2 100.00 0 Neurodevelopmental disorders
    GATAD2B 100.00 0 Neurodevelopmental disorders
    GATM 98.74 0 Neurodevelopmental disorders
    GBA1 100.00 0 Neurodevelopmental disorders
    GBE1 100.00 0 Neurodevelopmental disorders
    GCH1 99.71 0 Neurodevelopmental disorders
    GCK 99.13 0 Neurodevelopmental disorders
    GCOM1 95.06 0 Neurodevelopmental disorders
    GCSH 73.97 0 Neurodevelopmental disorders
    GDI1 99.45 0 Neurodevelopmental disorders
    GFAP 100.00 0 Neurodevelopmental disorders
    GFM1 100.00 0 Neurodevelopmental disorders
    GHR 99.41 0 Neurodevelopmental disorders
    GIGYF1 99.99 0 Neurodevelopmental disorders
    GIMAP8 100.00 0 Neurodevelopmental disorders
    GJB1 100.00 0 Neurodevelopmental disorders
    GJB6 100.00 0 Neurodevelopmental disorders
    GJC2 96.72 0 Neurodevelopmental disorders
    GK 98.88 0 Neurodevelopmental disorders
    GLDC 97.39 0 Neurodevelopmental disorders
    GLI2 96.28 0 Neurodevelopmental disorders
    GLI3 100.00 0 Neurodevelopmental disorders
    GLO1 100.00 0 Neurodevelopmental disorders
    GLRA1 100.00 0 Neurodevelopmental disorders
    GLUL 100.00 0 Neurodevelopmental disorders
    GLYCTK 98.86 0 Neurodevelopmental disorders
    GM2A 100.00 0 Neurodevelopmental disorders
    GMPPA 100.00 0 Neurodevelopmental disorders
    GMPPB 100.00 0 Neurodevelopmental disorders
    GNAO1 100.00 0 Neurodevelopmental disorders
    GNAS 100.00 0 Neurodevelopmental disorders
    GNB1 100.00 0 Neurodevelopmental disorders
    GNB5 98.67 0 Neurodevelopmental disorders
    GNPAT 100.00 0 Neurodevelopmental disorders
    GNPTAB 99.91 0 Neurodevelopmental disorders
    GNPTG 95.92 0 Neurodevelopmental disorders
    GNRHR 100.00 0 Neurodevelopmental disorders
    GNS 100.00 0 Neurodevelopmental disorders
    GORASP2 99.76 0 Neurodevelopmental disorders
    GP1BB 44.39 0 Neurodevelopmental disorders
    GPC3 99.72 0 Neurodevelopmental disorders
    GPHN 100.00 0 Neurodevelopmental disorders
    GPKOW 99.98 0 Neurodevelopmental disorders
    GPR37 100.00 0 Neurodevelopmental disorders
    ADGRG1 99.99 0 Neurodevelopmental disorders
    GPT2 97.87 0 Neurodevelopmental disorders
    GRB2 100.00 0 Neurodevelopmental disorders
    GRIA3 99.99 0 Neurodevelopmental disorders
    GRIA4 100.00 0 Neurodevelopmental disorders
    GRID2 100.00 0 Neurodevelopmental disorders
    GRIK2 100.00 0 Neurodevelopmental disorders
    GRIN1 99.80 0 Neurodevelopmental disorders
    GRIN2A 100.00 0 Neurodevelopmental disorders
    GRIN2B 100.00 0 Neurodevelopmental disorders
    GRIN3B 87.60 0 Neurodevelopmental disorders
    GRM1 99.99 0 Neurodevelopmental disorders
    GSE1 99.15 0 Neurodevelopmental disorders
    GSPT2 99.99 0 Neurodevelopmental disorders
    GSS 100.00 0 Neurodevelopmental disorders
    GTF2H5 100.00 0 Neurodevelopmental disorders
    GTF2IRD1 99.04 0 Neurodevelopmental disorders
    GTF3C1 100.00 0 Neurodevelopmental disorders
    GTPBP2 99.78 0 Neurodevelopmental disorders
    GUSB 97.13 0 Neurodevelopmental disorders
    GYS2 100.00 0 Neurodevelopmental disorders
    HAL 99.95 0 Neurodevelopmental disorders
    HAX1 100.00 0 Neurodevelopmental disorders
    HCCS 100.00 0 Neurodevelopmental disorders
    HCFC1 99.85 0 Neurodevelopmental disorders
    HCN1 99.93 0 Neurodevelopmental disorders
    HDAC4 99.86 0 Neurodevelopmental disorders
    HDAC6 99.91 0 Neurodevelopmental disorders
    HDAC8 99.75 0 Neurodevelopmental disorders
    HDAC9 100.00 0 Neurodevelopmental disorders
    HECTD1 100.00 0 Neurodevelopmental disorders
    HECW2 100.00 0 Neurodevelopmental disorders
    HEPACAM 99.85 0 Neurodevelopmental disorders
    HERC1 100.00 0 Neurodevelopmental disorders
    HERC2 97.66 0 Neurodevelopmental disorders
    HESX1 100.00 0 Neurodevelopmental disorders
    HEXA 100.00 0 Neurodevelopmental disorders
    HEXB 99.19 0 Neurodevelopmental disorders
    H1-4 99.57 0 Neurodevelopmental disorders
    H4C2 100.00 0 Neurodevelopmental disorders
    HIVEP2 99.91 0 Neurodevelopmental disorders
    HIVEP3 100.00 0 Neurodevelopmental disorders
    HLCS 100.00 0 Neurodevelopmental disorders
    HMGA2 93.67 0 Neurodevelopmental disorders
    HNMT 100.00 0 Neurodevelopmental disorders
    HNRNPH1 100.00 0 Neurodevelopmental disorders
    HNRNPU 99.82 0 Neurodevelopmental disorders
    HNRNPUL1 99.31 0 Neurodevelopmental disorders
    HOXA1 100.00 0 Neurodevelopmental disorders
    HOXB1 100.00 0 Neurodevelopmental disorders
    HOXD10 100.00 0 Neurodevelopmental disorders
    HPD 100.00 0 Neurodevelopmental disorders
    HPRT1 92.71 0 Neurodevelopmental disorders
    HRAS 100.00 0 Neurodevelopmental disorders
    HSD17B10 100.00 0 Neurodevelopmental disorders
    HSPA4 100.00 0 Neurodevelopmental disorders
    HSPD1 95.18 0 Neurodevelopmental disorders
    HTR2A 100.00 0 Neurodevelopmental disorders
    HUWE1 99.95 0 Neurodevelopmental disorders
    IARS1 100.00 0 Neurodevelopmental disorders
    IDH2 93.11 0 Neurodevelopmental disorders
    IDS 99.88 0 Neurodevelopmental disorders
    IDUA 91.86 0 Neurodevelopmental disorders
    IER3IP1 99.44 0 Neurodevelopmental disorders
    IFT172 100.00 0 Neurodevelopmental disorders
    IGBP1 99.53 0 Neurodevelopmental disorders
    IGF1 100.00 0 Neurodevelopmental disorders
    IGF1R 100.00 0 Neurodevelopmental disorders
    IKBKG 96.89 0 Neurodevelopmental disorders
    IL1RAPL1 99.95 0 Neurodevelopmental disorders
    ILF2 100.00 0 Neurodevelopmental disorders
    INPP5E 99.14 0 Neurodevelopmental disorders
    INSR 96.68 0 Neurodevelopmental disorders
    INTU 100.00 0 Neurodevelopmental disorders
    IQGAP3 100.00 0 Neurodevelopmental disorders
    IQSEC2 98.53 0 Neurodevelopmental disorders
    IRS1 100.00 0 Neurodevelopmental disorders
    IRX5 98.24 0 Neurodevelopmental disorders
    CRPPA 95.50 0 Neurodevelopmental disorders
    ITGA7 100.00 0 Neurodevelopmental disorders
    ITGB3 99.17 0 Neurodevelopmental disorders
    ITPR1 99.99 0 Neurodevelopmental disorders
    ITSN1 99.99 0 Neurodevelopmental disorders
    JADE2 100.00 0 Neurodevelopmental disorders
    JAG1 99.87 0 Neurodevelopmental disorders
    JAM3 99.88 0 Neurodevelopmental disorders
    JMJD1C 100.00 0 Neurodevelopmental disorders
    JUP 100.00 0 Neurodevelopmental disorders
    KANK1 100.00 0 Neurodevelopmental disorders
    KANSL1 100.00 0 Neurodevelopmental disorders
    KAT6A 100.00 0 Neurodevelopmental disorders
    KAT6B 100.00 0 Neurodevelopmental disorders
    KATNAL2 100.00 0 Neurodevelopmental disorders
    KATNB1 99.90 0 Neurodevelopmental disorders
    KCNA1 100.00 0 Neurodevelopmental disorders
    KCNH1 100.00 0 Neurodevelopmental disorders
    KCNJ10 100.00 0 Neurodevelopmental disorders
    KCNJ11 100.00 0 Neurodevelopmental disorders
    KCNJ6 100.00 0 Neurodevelopmental disorders
    KCNK9 100.00 0 Neurodevelopmental disorders
    KCNMA1 99.93 0 Neurodevelopmental disorders
    KCNQ2 99.92 0 Neurodevelopmental disorders
    KCNQ3 98.20 0 Neurodevelopmental disorders
    KCNQ4 94.57 0 Neurodevelopmental disorders
    KCNT1 98.96 0 Neurodevelopmental disorders
    KCTD7 100.00 0 Neurodevelopmental disorders
    KDM1A 99.82 0 Neurodevelopmental disorders
    KDM5A 100.00 0 Neurodevelopmental disorders
    KDM5B 100.00 0 Neurodevelopmental disorders
    KDM5C 99.97 0 Neurodevelopmental disorders
    KDM6A 99.72 0 Neurodevelopmental disorders
    KDM6B 99.91 0 Neurodevelopmental disorders
    RUBCN 96.60 0 Neurodevelopmental disorders
    KIAA0753 100.00 0 Neurodevelopmental disorders
    WASHC4 98.56 0 Neurodevelopmental disorders
    KIAA1109 99.99 0 Neurodevelopmental disorders
    KIFBP 100.00 0 Neurodevelopmental disorders
    CIP2A 100.00 0 Neurodevelopmental disorders
    LNPK 99.88 0 Neurodevelopmental disorders
    NEXMIF 100.00 0 Neurodevelopmental disorders
    KIF11 100.00 0 Neurodevelopmental disorders
    KIF16B 99.96 0 Neurodevelopmental disorders
    KIF1A 98.74 0 Neurodevelopmental disorders
    KIF21A 98.54 0 Neurodevelopmental disorders
    KIF26B 99.95 0 Neurodevelopmental disorders
    KIF2A 99.97 0 Neurodevelopmental disorders
    KIF4A 99.86 0 Neurodevelopmental disorders
    KIF5A 100.00 0 Neurodevelopmental disorders
    KIF5C 100.00 0 Neurodevelopmental disorders
    KIF7 99.64 0 Neurodevelopmental disorders
    KIRREL3 100.00 0 Neurodevelopmental disorders
    KIT 99.95 0 Neurodevelopmental disorders
    KLC2 100.00 0 Neurodevelopmental disorders
    KLF7 100.00 0 Neurodevelopmental disorders
    KLF8 99.94 0 Neurodevelopmental disorders
    KMT2A 99.70 0 Neurodevelopmental disorders
    KMT2C 100.00 0 Neurodevelopmental disorders
    KMT2D 99.98 0 Neurodevelopmental disorders
    KMT2E 99.98 0 Neurodevelopmental disorders
    KPTN 100.00 0 Neurodevelopmental disorders
    KRAS 100.00 0 Neurodevelopmental disorders
    KRBOX4 100.00 0 Neurodevelopmental disorders
    KRT18 72.23 0 Neurodevelopmental disorders
    KRT24 100.00 0 Neurodevelopmental disorders
    KRT8 94.97 0 Neurodevelopmental disorders
    KYNU 100.00 0 Neurodevelopmental disorders
    L1CAM 99.98 0 Neurodevelopmental disorders
    L2HGDH 99.75 0 Neurodevelopmental disorders
    LAMA1 99.79 0 Neurodevelopmental disorders
    LAMA2 100.00 0 Neurodevelopmental disorders
    LAMB1 100.00 0 Neurodevelopmental disorders
    LAMC3 98.42 0 Neurodevelopmental disorders
    LAMP2 99.60 0 Neurodevelopmental disorders
    LARGE1 100.00 0 Neurodevelopmental disorders
    LARP7 100.00 0 Neurodevelopmental disorders
    LAS1L 99.53 0 Neurodevelopmental disorders
    LBR 100.00 0 Neurodevelopmental disorders
    LCT 100.00 0 Neurodevelopmental disorders
    LHX3 90.58 0 Neurodevelopmental disorders
    LIG4 100.00 0 Neurodevelopmental disorders
    LINS1 100.00 0 Neurodevelopmental disorders
    LMAN2L 100.00 0 Neurodevelopmental disorders
    LMBRD1 100.00 0 Neurodevelopmental disorders
    ADGRL2 99.98 0 Neurodevelopmental disorders
    LRP1 100.00 0 Neurodevelopmental disorders
    LRP2 99.71 0 Neurodevelopmental disorders
    LRP5 96.72 0 Neurodevelopmental disorders
    LRPPRC 98.80 0 Neurodevelopmental disorders
    LRRC7 100.00 0 Neurodevelopmental disorders
    LYST 100.00 0 Neurodevelopmental disorders
    MAGEL2 99.88 0 Neurodevelopmental disorders
    MAGT1 100.00 0 Neurodevelopmental disorders
    MAN1B1 99.81 0 Neurodevelopmental disorders
    MAN2B1 99.30 0 Neurodevelopmental disorders
    MANBA 99.49 0 Neurodevelopmental disorders
    MAOA 98.99 0 Neurodevelopmental disorders
    MAP1B 99.93 0 Neurodevelopmental disorders
    MAP2 100.00 0 Neurodevelopmental disorders
    MAP2K1 100.00 0 Neurodevelopmental disorders
    MAP2K2 99.99 0 Neurodevelopmental disorders
    MAPK1 99.88 0 Neurodevelopmental disorders
    MAPK3 99.96 0 Neurodevelopmental disorders
    MAPRE2 100.00 0 Neurodevelopmental disorders
    MAPT 100.00 0 Neurodevelopmental disorders
    MAT1A 100.00 0 Neurodevelopmental disorders
    MBD3 100.00 0 Neurodevelopmental disorders
    MBD5 100.00 0 Neurodevelopmental disorders
    MBTPS2 100.00 0 Neurodevelopmental disorders
    MCCC1 99.77 0 Neurodevelopmental disorders
    MCCC2 99.65 0 Neurodevelopmental disorders
    MCOLN1 95.75 0 Neurodevelopmental disorders
    MCPH1 99.70 0 Neurodevelopmental disorders
    MDM2 100.00 0 Neurodevelopmental disorders
    MECP2 96.46 0 Neurodevelopmental disorders
    MED12 99.02 0 Neurodevelopmental disorders
    MED13L 99.95 0 Neurodevelopmental disorders
    MED17 100.00 0 Neurodevelopmental disorders
    MED23 99.94 0 Neurodevelopmental disorders
    MED29 100.00 0 Neurodevelopmental disorders
    MEF2C 100.00 0 Neurodevelopmental disorders
    MET 100.00 0 Neurodevelopmental disorders
    METTL23 100.00 0 Neurodevelopmental disorders
    MFRP 100.00 0 Neurodevelopmental disorders
    MFSD8 100.00 0 Neurodevelopmental disorders
    MGAT2 100.00 0 Neurodevelopmental disorders
    MIB1 100.00 0 Neurodevelopmental disorders
    MID1 100.00 0 Neurodevelopmental disorders
    MID2 100.00 0 Neurodevelopmental disorders
    MIR222 100.00 0 Neurodevelopmental disorders
    MKKS 100.00 0 Neurodevelopmental disorders
    MLH1 100.00 0 Neurodevelopmental disorders
    MLYCD 96.09 0 Neurodevelopmental disorders
    MMAA 100.00 0 Neurodevelopmental disorders
    MMACHC 100.00 0 Neurodevelopmental disorders
    MMADHC 100.00 0 Neurodevelopmental disorders
    MMP21 97.88 0 Neurodevelopmental disorders
    MOCS1 99.94 0 Neurodevelopmental disorders
    MOCS2 100.00 0 Neurodevelopmental disorders
    MOGS 98.86 0 Neurodevelopmental disorders
    MOV10 100.00 0 Neurodevelopmental disorders
    MPDU1 100.00 0 Neurodevelopmental disorders
    MPDZ 100.00 0 Neurodevelopmental disorders
    MPHOSPH8 100.00 0 Neurodevelopmental disorders
    MPI 100.00 0 Neurodevelopmental disorders
    MPLKIP 100.00 0 Neurodevelopmental disorders
    MPZ 99.80 0 Neurodevelopmental disorders
    MRAP 100.00 0 Neurodevelopmental disorders
    MRPS22 98.08 0 Neurodevelopmental disorders
    MSH6 99.89 0 Neurodevelopmental disorders
    MST1R 100.00 0 Neurodevelopmental disorders
    MTFMT 97.83 0 Neurodevelopmental disorders
    MTHFR 100.00 0 Neurodevelopmental disorders
    MTHFS 94.81 0 Neurodevelopmental disorders
    MTM1 99.91 0 Neurodevelopmental disorders
    MTMR2 99.55 0 Neurodevelopmental disorders
    MTR 100.00 0 Neurodevelopmental disorders
    MTRR 100.00 0 Neurodevelopmental disorders
    MMUT 99.99 0 Neurodevelopmental disorders
    MVK 100.00 0 Neurodevelopmental disorders
    MYCN 99.89 0 Neurodevelopmental disorders
    MYH10 100.00 0 Neurodevelopmental disorders
    MYH7B 99.85 0 Neurodevelopmental disorders
    MYH9 99.99 0 Neurodevelopmental disorders
    MYO1E 99.57 0 Neurodevelopmental disorders
    MYO3A 100.00 0 Neurodevelopmental disorders
    MYO5A 99.67 0 Neurodevelopmental disorders
    MYO7A 99.88 0 Neurodevelopmental disorders
    MYOC 100.00 0 Neurodevelopmental disorders
    MYT1L 100.00 0 Neurodevelopmental disorders
    NAA10 96.95 0 Neurodevelopmental disorders
    NAA15 100.00 0 Neurodevelopmental disorders
    NAGA 100.00 0 Neurodevelopmental disorders
    NAGLU 96.69 0 Neurodevelopmental disorders
    NALCN 100.00 0 Neurodevelopmental disorders
    NANS 100.00 0 Neurodevelopmental disorders
    NAV2 100.00 0 Neurodevelopmental disorders
    NBEA 97.18 0 Neurodevelopmental disorders
    NBN 100.00 0 Neurodevelopmental disorders
    NCKAP1 100.00 0 Neurodevelopmental disorders
    NDE1 100.00 0 Neurodevelopmental disorders
    NDP 100.00 0 Neurodevelopmental disorders
    NDST1 100.00 0 Neurodevelopmental disorders
    NDUFA1 100.00 0 Neurodevelopmental disorders
    NDUFA10 96.45 0 Neurodevelopmental disorders
    NDUFA11 80.54 0 Neurodevelopmental disorders
    NDUFA12 100.00 0 Neurodevelopmental disorders
    NDUFAF5 99.96 0 Neurodevelopmental disorders
    NDUFS1 100.00 0 Neurodevelopmental disorders
    NDUFS2 100.00 0 Neurodevelopmental disorders
    NDUFS3 100.00 0 Neurodevelopmental disorders
    NDUFS4 99.96 0 Neurodevelopmental disorders
    NDUFS7 93.34 0 Neurodevelopmental disorders
    NDUFS8 100.00 0 Neurodevelopmental disorders
    NDUFV1 99.62 0 Neurodevelopmental disorders
    NEDD4L 98.66 0 Neurodevelopmental disorders
    NEDD9 100.00 0 Neurodevelopmental disorders
    NEU1 100.00 0 Neurodevelopmental disorders
    NF1 98.78 0 Neurodevelopmental disorders
    NFATC1 99.80 0 Neurodevelopmental disorders
    NFIA 99.95 0 Neurodevelopmental disorders
    NFIX 94.60 0 Neurodevelopmental disorders
    NGF 100.00 0 Neurodevelopmental disorders
    NHEJ1 100.00 0 Neurodevelopmental disorders
    NHP2 100.00 0 Neurodevelopmental disorders
    NHS 92.80 0 Neurodevelopmental disorders
    NIPBL 99.48 0 Neurodevelopmental disorders
    NKX2-1 97.73 0 Neurodevelopmental disorders
    NLGN1 100.00 0 Neurodevelopmental disorders
    NLGN3 99.95 0 Neurodevelopmental disorders
    NLGN4X 100.00 0 Neurodevelopmental disorders
    NLGN4Y 60.20 0 Neurodevelopmental disorders
    NOG 99.95 0 Neurodevelopmental disorders
    NONO 100.00 0 Neurodevelopmental disorders
    NOTCH3 93.46 0 Neurodevelopmental disorders
    NPC1 97.50 0 Neurodevelopmental disorders
    NPC2 100.00 0 Neurodevelopmental disorders
    NPHP1 100.00 0 Neurodevelopmental disorders
    NPHP3 99.99 0 Neurodevelopmental disorders
    NR2F1 99.99 0 Neurodevelopmental disorders
    NR3C2 99.99 0 Neurodevelopmental disorders
    NR4A2 100.00 0 Neurodevelopmental disorders
    NRAS 100.00 0 Neurodevelopmental disorders
    NRCAM 100.00 0 Neurodevelopmental disorders
    NRG3 99.55 0 Neurodevelopmental disorders
    NRIP1 100.00 0 Neurodevelopmental disorders
    NRXN1 99.87 0 Neurodevelopmental disorders
    NRXN2 93.76 0 Neurodevelopmental disorders
    NSD1 100.00 0 Neurodevelopmental disorders
    NSDHL 100.00 0 Neurodevelopmental disorders
    NSUN2 99.69 0 Neurodevelopmental disorders
    NTRK1 98.36 0 Neurodevelopmental disorders
    NTRK2 100.00 0 Neurodevelopmental disorders
    NUAK1 99.69 0 Neurodevelopmental disorders
    NXF5 98.08 0 Neurodevelopmental disorders
    OBSL1 99.88 0 Neurodevelopmental disorders
    OCA2 99.49 0 Neurodevelopmental disorders
    OCLN 100.00 0 Neurodevelopmental disorders
    OCRL 98.81 0 Neurodevelopmental disorders
    ODC1 100.00 0 Neurodevelopmental disorders
    OFD1 97.13 0 Neurodevelopmental disorders
    OGT 99.90 0 Neurodevelopmental disorders
    OPHN1 99.94 0 Neurodevelopmental disorders
    SLC25A15 100.00 0 Neurodevelopmental disorders
    OTC 99.17 0 Neurodevelopmental disorders
    OXTR 92.68 0 Neurodevelopmental disorders
    PACS1 98.26 0 Neurodevelopmental disorders
    PAFAH1B1 100.00 0 Neurodevelopmental disorders
    PAH 100.00 0 Neurodevelopmental disorders
    PAK3 98.75 0 Neurodevelopmental disorders
    PANK2 100.00 0 Neurodevelopmental disorders
    PARD3B 100.00 0 Neurodevelopmental disorders
    PARP1 100.00 0 Neurodevelopmental disorders
    PAX1 96.00 0 Neurodevelopmental disorders
    PAX5 100.00 0 Neurodevelopmental disorders
    PAX6 100.00 0 Neurodevelopmental disorders
    PAX8 99.96 0 Neurodevelopmental disorders
    PBRM1 100.00 0 Neurodevelopmental disorders
    PODXL 100.00 0 Neurodevelopmental disorders
    PCDH10 99.96 0 Neurodevelopmental disorders
    PCDH19 98.99 0 Neurodevelopmental disorders
    PCGF2 100.00 0 Neurodevelopmental disorders
    PCLO 100.00 0 Neurodevelopmental disorders
    PCNT 99.88 0 Neurodevelopmental disorders
    PDE1C 99.99 0 Neurodevelopmental disorders
    PDE4D 99.96 0 Neurodevelopmental disorders
    PDE8B 98.72 0 Neurodevelopmental disorders
    PDHA1 92.64 0 Neurodevelopmental disorders
    PDHX 100.00 0 Neurodevelopmental disorders
    PDSS1 85.11 0 Neurodevelopmental disorders
    PDSS2 100.00 0 Neurodevelopmental disorders
    PEPD 97.88 0 Neurodevelopmental disorders
    PER2 100.00 0 Neurodevelopmental disorders
    PEX1 100.00 0 Neurodevelopmental disorders
    PEX10 87.10 0 Neurodevelopmental disorders
    PEX11B 100.00 0 Neurodevelopmental disorders
    PEX12 100.00 0 Neurodevelopmental disorders
    PEX13 100.00 0 Neurodevelopmental disorders
    PEX16 99.97 0 Neurodevelopmental disorders
    PEX19 100.00 0 Neurodevelopmental disorders
    PEX2 100.00 0 Neurodevelopmental disorders
    PEX26 100.00 0 Neurodevelopmental disorders
    PEX3 100.00 0 Neurodevelopmental disorders
    PEX5 100.00 0 Neurodevelopmental disorders
    PEX6 99.74 0 Neurodevelopmental disorders
    PEX7 95.60 0 Neurodevelopmental disorders
    PGA5 100.00 0 Neurodevelopmental disorders
    PGAP1 100.00 0 Neurodevelopmental disorders
    PGAP2 100.00 0 Neurodevelopmental disorders
    PGAP3 98.48 0 Neurodevelopmental disorders
    PGK1 99.88 0 Neurodevelopmental disorders
    PHF2 99.95 0 Neurodevelopmental disorders
    PHF21A 100.00 0 Neurodevelopmental disorders
    PHF6 100.00 0 Neurodevelopmental disorders
    PHF8 100.00 0 Neurodevelopmental disorders
    PHGDH 100.00 0 Neurodevelopmental disorders
    PHIP 99.68 0 Neurodevelopmental disorders
    PHKA2 99.88 0 Neurodevelopmental disorders
    PHKG2 100.00 0 Neurodevelopmental disorders
    PIAS1 99.99 0 Neurodevelopmental disorders
    PIGG 100.00 0 Neurodevelopmental disorders
    PIGL 100.00 0 Neurodevelopmental disorders
    PIGN 100.00 0 Neurodevelopmental disorders
    PIGO 100.00 0 Neurodevelopmental disorders
    PIGS 99.99 0 Neurodevelopmental disorders
    PIGT 100.00 0 Neurodevelopmental disorders
    PIGV 100.00 0 Neurodevelopmental disorders
    PIGW 100.00 0 Neurodevelopmental disorders
    PIGY 100.00 0 Neurodevelopmental disorders
    PIK3R2 88.52 0 Neurodevelopmental disorders
    PLA2G6 100.00 0 Neurodevelopmental disorders
    PLCB1 100.00 0 Neurodevelopmental disorders
    PLP1 100.00 0 Neurodevelopmental disorders
    PLXNB1 100.00 0 Neurodevelopmental disorders
    PMM2 100.00 0 Neurodevelopmental disorders
    PNKP 99.84 0 Neurodevelopmental disorders
    PNP 100.00 0 Neurodevelopmental disorders
    POC1A 99.00 0 Neurodevelopmental disorders
    POGZ 100.00 0 Neurodevelopmental disorders
    POLG 100.00 0 Neurodevelopmental disorders
    POLR2M 100.00 0 Neurodevelopmental disorders
    POLR3A 100.00 0 Neurodevelopmental disorders
    POLR3B 100.00 0 Neurodevelopmental disorders
    POMC 100.00 0 Neurodevelopmental disorders
    POMGNT1 100.00 0 Neurodevelopmental disorders
    POMGNT2 100.00 0 Neurodevelopmental disorders
    POMT1 100.00 0 Neurodevelopmental disorders
    POMT2 99.53 0 Neurodevelopmental disorders
    PORCN 98.59 0 Neurodevelopmental disorders
    POT1 99.99 0 Neurodevelopmental disorders
    POU1F1 100.00 0 Neurodevelopmental disorders
    POU3F3 71.08 0 Neurodevelopmental disorders
    POU3F4 100.00 0 Neurodevelopmental disorders
    PPM1D 100.00 0 Neurodevelopmental disorders
    HCRT 100.00 0 Neurodevelopmental disorders
    PPP1CB 100.00 0 Neurodevelopmental disorders
    PPP1R1B 100.00 0 Neurodevelopmental disorders
    PPP2R1A 100.00 0 Neurodevelopmental disorders
    PPP2R5D 100.00 0 Neurodevelopmental disorders
    PPT1 100.00 0 Neurodevelopmental disorders
    PQBP1 99.91 0 Neurodevelopmental disorders
    PRICKLE1 100.00 0 Neurodevelopmental disorders
    PRKAR1A 100.00 0 Neurodevelopmental disorders
    PRKRA 99.64 0 Neurodevelopmental disorders
    PRMT7 100.00 0 Neurodevelopmental disorders
    PRODH 88.26 0 Neurodevelopmental disorders
    PRPS1 99.91 0 Neurodevelopmental disorders
    PRR12 99.99 0 Neurodevelopmental disorders
    PRRT2 100.00 0 Neurodevelopmental disorders
    PRSS12 100.00 0 Neurodevelopmental disorders
    PSAP 100.00 0 Neurodevelopmental disorders
    PSEN1 100.00 0 Neurodevelopmental disorders
    PTCH1 98.82 0 Neurodevelopmental disorders
    PTCHD1 99.78 0 Neurodevelopmental disorders
    PTDSS1 100.00 0 Neurodevelopmental disorders
    PTEN 99.45 0 Neurodevelopmental disorders
    PTHLH 100.00 0 Neurodevelopmental disorders
    PTK7 100.00 0 Neurodevelopmental disorders
    PTPN11 94.43 0 Neurodevelopmental disorders
    PUF60 99.31 0 Neurodevelopmental disorders
    PUM1 100.00 0 Neurodevelopmental disorders
    PURA 95.47 0 Neurodevelopmental disorders
    PUS1 100.00 0 Neurodevelopmental disorders
    PUS3 100.00 0 Neurodevelopmental disorders
    PUS7 100.00 0 Neurodevelopmental disorders
    NECTIN1 99.19 0 Neurodevelopmental disorders
    PYCR1 100.00 0 Neurodevelopmental disorders
    PYCR2 100.00 0 Neurodevelopmental disorders
    PYGL 100.00 0 Neurodevelopmental disorders
    QRICH1 100.00 0 Neurodevelopmental disorders
    RAB18 99.99 0 Neurodevelopmental disorders
    RAB27A 100.00 0 Neurodevelopmental disorders
    RAB39B 100.00 0 Neurodevelopmental disorders
    RAB3GAP1 100.00 0 Neurodevelopmental disorders
    RAB3GAP2 100.00 0 Neurodevelopmental disorders
    RAB40AL 99.91 0 Neurodevelopmental disorders
    RABL6 99.42 0 Neurodevelopmental disorders
    NCOA3 88.47 0 Neurodevelopmental disorders
    RAD21 100.00 0 Neurodevelopmental disorders
    RAF1 100.00 0 Neurodevelopmental disorders
    RAI1 93.59 0 Neurodevelopmental disorders
    RALGAPB 100.00 0 Neurodevelopmental disorders
    RALGDS 92.25 0 Neurodevelopmental disorders
    RANBP17 98.10 0 Neurodevelopmental disorders
    RAPSN 100.00 0 Neurodevelopmental disorders
    RARS2 100.00 0 Neurodevelopmental disorders
    RASGEF1B 100.00 0 Neurodevelopmental disorders
    RBBP8 99.97 0 Neurodevelopmental disorders
    RBFOX1 98.87 0 Neurodevelopmental disorders
    RBL2 98.63 0 Neurodevelopmental disorders
    RBM10 99.23 0 Neurodevelopmental disorders
    RBM28 98.67 0 Neurodevelopmental disorders
    RELN 100.00 0 Neurodevelopmental disorders
    RERE 99.81 0 Neurodevelopmental disorders
    REV3L 99.86 0 Neurodevelopmental disorders
    RFT1 99.87 0 Neurodevelopmental disorders
    RFX3 100.00 0 Neurodevelopmental disorders
    RFX6 100.00 0 Neurodevelopmental disorders
    RIC8A 99.98 0 Neurodevelopmental disorders
    RIMS1 100.00 0 Neurodevelopmental disorders
    RIT1 100.00 0 Neurodevelopmental disorders
    RMND1 99.49 0 Neurodevelopmental disorders
    RMRP 100.00 0 Neurodevelopmental disorders
    RNASEH2A 100.00 0 Neurodevelopmental disorders
    RNASEH2B 94.58 0 Neurodevelopmental disorders
    RNASEH2C 100.00 0 Neurodevelopmental disorders
    RNASET2 100.00 0 Neurodevelopmental disorders
    RNF125 99.99 0 Neurodevelopmental disorders
    RNF213 100.00 0 Neurodevelopmental disorders
    ROGDI 91.40 0 Neurodevelopmental disorders
    RP2 99.78 0 Neurodevelopmental disorders
    RPGRIP1L 96.40 0 Neurodevelopmental disorders
    RPL15 99.14 0 Neurodevelopmental disorders
    RPS6KA2 100.00 0 Neurodevelopmental disorders
    RPS6KA3 96.78 0 Neurodevelopmental disorders
    RRAS 97.75 0 Neurodevelopmental disorders
    RTEL1 100.00 0 Neurodevelopmental disorders
    RTN2 99.44 0 Neurodevelopmental disorders
    RTN4IP1 100.00 0 Neurodevelopmental disorders
    RUNX1 99.48 0 Neurodevelopmental disorders
    RUVBL1 100.00 0 Neurodevelopmental disorders
    RYR1 99.39 0 Neurodevelopmental disorders
    RYR2 100.00 0 Neurodevelopmental disorders
    S100G 98.92 0 Neurodevelopmental disorders
    SACS 99.95 0 Neurodevelopmental disorders
    SALL1 100.00 0 Neurodevelopmental disorders
    SAMHD1 100.00 0 Neurodevelopmental disorders
    SARDH 99.83 0 Neurodevelopmental disorders
    SARS2 100.00 0 Neurodevelopmental disorders
    SATB2 99.34 0 Neurodevelopmental disorders
    SBF1 98.38 0 Neurodevelopmental disorders
    SC5D 100.00 0 Neurodevelopmental disorders
    SCAPER 99.94 0 Neurodevelopmental disorders
    SCN1A 100.00 0 Neurodevelopmental disorders
    SCN2A 100.00 0 Neurodevelopmental disorders
    SCN7A 100.00 0 Neurodevelopmental disorders
    SCN8A 100.00 0 Neurodevelopmental disorders
    SCN9A 99.99 0 Neurodevelopmental disorders
    SCO2 93.85 0 Neurodevelopmental disorders
    SDCCAG8 100.00 0 Neurodevelopmental disorders
    SDHA 95.31 0 Neurodevelopmental disorders
    SDK1 96.50 0 Neurodevelopmental disorders
    SERAC1 100.00 0 Neurodevelopmental disorders
    SETBP1 100.00 0 Neurodevelopmental disorders
    SETD1A 100.00 0 Neurodevelopmental disorders
    SETD1B 99.89 0 Neurodevelopmental disorders
    SETD2 100.00 0 Neurodevelopmental disorders
    SETD5 100.00 0 Neurodevelopmental disorders
    NR5A1 87.73 0 Neurodevelopmental disorders
    SFPQ 99.89 0 Neurodevelopmental disorders
    SGCA 100.00 0 Neurodevelopmental disorders
    SGSH 99.85 0 Neurodevelopmental disorders
    SHANK1 99.69 0 Neurodevelopmental disorders
    SHANK2 100.00 0 Neurodevelopmental disorders
    SHANK3 90.31 0 Neurodevelopmental disorders
    SHC1 100.00 0 Neurodevelopmental disorders
    SHH 99.47 0 Neurodevelopmental disorders
    SHOC2 100.00 0 Neurodevelopmental disorders
    SHOX 98.69 0 Neurodevelopmental disorders
    SHROOM4 99.98 0 Neurodevelopmental disorders
    SIL1 99.95 0 Neurodevelopmental disorders
    SIN3A 97.83 0 Neurodevelopmental disorders
    SIX3 99.61 0 Neurodevelopmental disorders
    HHAT 92.45 0 Neurodevelopmental disorders
    SLC12A6 100.00 0 Neurodevelopmental disorders
    SLC16A2 99.97 0 Neurodevelopmental disorders
    SLC17A5 100.00 0 Neurodevelopmental disorders
    SLC1A1 100.00 0 Neurodevelopmental disorders
    SLC1A4 99.98 0 Neurodevelopmental disorders
    SLC20A2 100.00 0 Neurodevelopmental disorders
    SLC24A2 99.82 0 Neurodevelopmental disorders
    SLC25A1 98.83 0 Neurodevelopmental disorders
    SLC25A12 100.00 0 Neurodevelopmental disorders
    SLC25A13 100.00 0 Neurodevelopmental disorders
    SLC25A22 100.00 0 Neurodevelopmental disorders
    SLC25A24 99.90 0 Neurodevelopmental disorders
    SLC26A9 100.00 0 Neurodevelopmental disorders
    SLC2A1 100.00 0 Neurodevelopmental disorders
    SLC2A2 99.95 0 Neurodevelopmental disorders
    SLC33A1 100.00 0 Neurodevelopmental disorders
    SLC35A2 100.00 0 Neurodevelopmental disorders
    SLC35C1 100.00 0 Neurodevelopmental disorders
    SLC39A8 98.92 0 Neurodevelopmental disorders
    SLC46A1 99.98 0 Neurodevelopmental disorders
    SLC4A4 100.00 0 Neurodevelopmental disorders
    SLC5A2 99.99 0 Neurodevelopmental disorders
    SLC5A5 99.97 0 Neurodevelopmental disorders
    SLC6A1 100.00 0 Neurodevelopmental disorders
    SLC6A17 100.00 0 Neurodevelopmental disorders
    SLC6A3 100.00 0 Neurodevelopmental disorders
    SLC6A4 100.00 0 Neurodevelopmental disorders
    SLC6A8 99.41 0 Neurodevelopmental disorders
    SLC7A7 100.00 0 Neurodevelopmental disorders
    SLC9A6 99.66 0 Neurodevelopmental disorders
    SLC9A7 95.89 0 Neurodevelopmental disorders
    SLC9A9 100.00 0 Neurodevelopmental disorders
    SLCO1B1 99.89 0 Neurodevelopmental disorders
    SLCO1B3 99.94 0 Neurodevelopmental disorders
    SLX4 100.00 0 Neurodevelopmental disorders
    SMAD2 100.00 0 Neurodevelopmental disorders
    SMAD4 98.47 0 Neurodevelopmental disorders
    SMARCA2 98.99 0 Neurodevelopmental disorders
    SMARCA4 100.00 0 Neurodevelopmental disorders
    SMARCB1 100.00 0 Neurodevelopmental disorders
    SMARCC2 100.00 0 Neurodevelopmental disorders
    SMARCE1 98.46 0 Neurodevelopmental disorders
    SMC1A 99.87 0 Neurodevelopmental disorders
    SMC3 100.00 0 Neurodevelopmental disorders
    SMG6 96.90 0 Neurodevelopmental disorders
    SMOC1 98.05 0 Neurodevelopmental disorders
    SMPD1 100.00 0 Neurodevelopmental disorders
    SNAP29 100.00 0 Neurodevelopmental disorders
    SNIP1 100.00 0 Neurodevelopmental disorders
    SNRPA 100.00 0 Neurodevelopmental disorders
    SNX14 99.98 0 Neurodevelopmental disorders
    SNX19 99.99 0 Neurodevelopmental disorders
    SOBP 95.50 0 Neurodevelopmental disorders
    SON 100.00 0 Neurodevelopmental disorders
    SOS1 100.00 0 Neurodevelopmental disorders
    SOS2 99.96 0 Neurodevelopmental disorders
    SOX10 95.36 0 Neurodevelopmental disorders
    SOX11 100.00 0 Neurodevelopmental disorders
    SOX2 95.35 0 Neurodevelopmental disorders
    SOX3 97.06 0 Neurodevelopmental disorders
    SOX5 100.00 0 Neurodevelopmental disorders
    SPAST 99.83 0 Neurodevelopmental disorders
    AFG2A 99.97 0 Neurodevelopmental disorders
    SPG11 100.00 0 Neurodevelopmental disorders
    SPG7 95.78 0 Neurodevelopmental disorders
    SPR 99.98 0 Neurodevelopmental disorders
    SPRED1 100.00 0 Neurodevelopmental disorders
    SPTAN1 100.00 0 Neurodevelopmental disorders
    SPTLC1 99.27 0 Neurodevelopmental disorders
    SRCAP 100.00 0 Neurodevelopmental disorders
    SRD5A3 98.61 0 Neurodevelopmental disorders
    SREBF2 99.91 0 Neurodevelopmental disorders
    SRGAP3 100.00 0 Neurodevelopmental disorders
    SRPX2 99.04 0 Neurodevelopmental disorders
    ST3GAL3 100.00 0 Neurodevelopmental disorders
    ST3GAL5 90.70 0 Neurodevelopmental disorders
    STAG1 100.00 0 Neurodevelopmental disorders
    STAT5B 100.00 0 Neurodevelopmental disorders
    STIL 100.00 0 Neurodevelopmental disorders
    STRA6 100.00 0 Neurodevelopmental disorders
    STS 99.91 0 Neurodevelopmental disorders
    STT3A 100.00 0 Neurodevelopmental disorders
    STT3B 100.00 0 Neurodevelopmental disorders
    STX11 100.00 0 Neurodevelopmental disorders
    STXBP1 100.00 0 Neurodevelopmental disorders
    STXBP5 100.00 0 Neurodevelopmental disorders
    SUCLA2 99.86 0 Neurodevelopmental disorders
    SUCLG1 93.27 0 Neurodevelopmental disorders
    SUOX 100.00 0 Neurodevelopmental disorders
    SUPT16H 100.00 0 Neurodevelopmental disorders
    SURF1 82.91 0 Neurodevelopmental disorders
    KMT5B 100.00 0 Neurodevelopmental disorders
    SYN1 96.00 0 Neurodevelopmental disorders
    SYNE1 100.00 0 Neurodevelopmental disorders
    SYNGAP1 99.76 0 Neurodevelopmental disorders
    SYNM 92.93 0 Neurodevelopmental disorders
    SYNPO 100.00 0 Neurodevelopmental disorders
    SYP 97.84 0 Neurodevelopmental disorders
    SYT14 92.28 0 Neurodevelopmental disorders
    SYT3 99.96 0 Neurodevelopmental disorders
    TAF1 99.98 0 Neurodevelopmental disorders
    TAF13 100.00 0 Neurodevelopmental disorders
    TAF2 100.00 0 Neurodevelopmental disorders
    TAT 100.00 0 Neurodevelopmental disorders
    TBC1D24 99.99 0 Neurodevelopmental disorders
    TBC1D7 100.00 0 Neurodevelopmental disorders
    TBCE 100.00 0 Neurodevelopmental disorders
    TBCK 100.00 0 Neurodevelopmental disorders
    TBR1 99.60 0 Neurodevelopmental disorders
    TBX1 83.55 0 Neurodevelopmental disorders
    TCF20 100.00 0 Neurodevelopmental disorders
    TCF3 99.97 0 Neurodevelopmental disorders
    TCF4 100.00 0 Neurodevelopmental disorders
    TCF7L2 100.00 0 Neurodevelopmental disorders
    TDG 100.00 0 Neurodevelopmental disorders
    TECR 100.00 0 Neurodevelopmental disorders
    TELO2 98.19 0 Neurodevelopmental disorders
    TENM1 99.91 0 Neurodevelopmental disorders
    TET3 100.00 0 Neurodevelopmental disorders
    TFAP2A 99.96 0 Neurodevelopmental disorders
    TGFBR1 91.80 0 Neurodevelopmental disorders
    TGFBR2 100.00 0 Neurodevelopmental disorders
    TGIF1 100.00 0 Neurodevelopmental disorders
    TGM1 100.00 0 Neurodevelopmental disorders
    TH 98.79 0 Neurodevelopmental disorders
    THOC2 99.62 0 Neurodevelopmental disorders
    THOC6 100.00 0 Neurodevelopmental disorders
    THRA 100.00 0 Neurodevelopmental disorders
    THRB 100.00 0 Neurodevelopmental disorders
    THSD1 100.00 0 Neurodevelopmental disorders
    TIMM8A 99.00 0 Neurodevelopmental disorders
    TINF2 99.94 0 Neurodevelopmental disorders
    TMCO1 100.00 0 Neurodevelopmental disorders
    TMEM107 100.00 0 Neurodevelopmental disorders
    TMEM135 100.00 0 Neurodevelopmental disorders
    TMEM165 91.64 0 Neurodevelopmental disorders
    TMEM216 99.87 0 Neurodevelopmental disorders
    TMEM231 100.00 0 Neurodevelopmental disorders
    TMEM237 99.85 0 Neurodevelopmental disorders
    TMEM67 99.95 0 Neurodevelopmental disorders
    TMEM70 100.00 0 Neurodevelopmental disorders
    TMLHE 99.11 0 Neurodevelopmental disorders
    TNIK 100.00 0 Neurodevelopmental disorders
    TNK2 99.86 0 Neurodevelopmental disorders
    TNRC6B 99.93 0 Neurodevelopmental disorders
    TOPORS 100.00 0 Neurodevelopmental disorders
    TOR1A 99.70 0 Neurodevelopmental disorders
    TDO2 100.00 0 Neurodevelopmental disorders
    TPK1 99.99 0 Neurodevelopmental disorders
    THPO 99.80 0 Neurodevelopmental disorders
    ACD 99.99 0 Neurodevelopmental disorders
    TPTE 99.28 0 Neurodevelopmental disorders
    TRAF7 99.04 0 Neurodevelopmental disorders
    TRAPPC11 99.97 0 Neurodevelopmental disorders
    TRAPPC12 99.96 0 Neurodevelopmental disorders
    TRAPPC9 99.15 0 Neurodevelopmental disorders
    TREX1 100.00 0 Neurodevelopmental disorders
    TRHR 100.00 0 Neurodevelopmental disorders
    TRIM10 100.00 0 Neurodevelopmental disorders
    TRIM3 100.00 0 Neurodevelopmental disorders
    TRIM32 100.00 0 Neurodevelopmental disorders
    TRIO 98.86 0 Neurodevelopmental disorders
    TRIP12 100.00 0 Neurodevelopmental disorders
    TRMT10A 100.00 0 Neurodevelopmental disorders
    TRPM3 100.00 0 Neurodevelopmental disorders
    TRPM6 100.00 0 Neurodevelopmental disorders
    TRPV4 100.00 0 Neurodevelopmental disorders
    TRPV6 100.00 0 Neurodevelopmental disorders
    TSC1 100.00 0 Neurodevelopmental disorders
    TSC2 99.94 0 Neurodevelopmental disorders
    TSEN54 91.60 0 Neurodevelopmental disorders
    TSHR 100.00 0 Neurodevelopmental disorders
    TSPAN7 99.05 0 Neurodevelopmental disorders
    SKIC3 99.99 0 Neurodevelopmental disorders
    TTC8 99.73 0 Neurodevelopmental disorders
    TTC9 91.41 0 Neurodevelopmental disorders
    TTI2 100.00 0 Neurodevelopmental disorders
    TTN 100.00 0 Neurodevelopmental disorders
    TTR 100.00 0 Neurodevelopmental disorders
    TUBA1A 100.00 0 Neurodevelopmental disorders
    TUBA8 99.98 0 Neurodevelopmental disorders
    TUBB 100.00 0 Neurodevelopmental disorders
    TUBB2B 100.00 0 Neurodevelopmental disorders
    TUBB3 99.01 0 Neurodevelopmental disorders
    TUBGCP4 99.17 0 Neurodevelopmental disorders
    TUBGCP6 100.00 0 Neurodevelopmental disorders
    TUSC3 100.00 0 Neurodevelopmental disorders
    TWIST1 97.62 0 Neurodevelopmental disorders
    UBE2A 100.00 0 Neurodevelopmental disorders
    UBE3A 100.00 0 Neurodevelopmental disorders
    UBE3B 100.00 0 Neurodevelopmental disorders
    UBR1 100.00 0 Neurodevelopmental disorders
    UBTF 100.00 0 Neurodevelopmental disorders
    UNC50 100.00 0 Neurodevelopmental disorders
    UNC80 99.98 0 Neurodevelopmental disorders
    UPB1 100.00 0 Neurodevelopmental disorders
    UPF3B 99.86 0 Neurodevelopmental disorders
    UROC1 99.97 0 Neurodevelopmental disorders
    USP9X 100.00 0 Neurodevelopmental disorders
    UTP6 100.00 0 Neurodevelopmental disorders
    VCP 97.10 0 Neurodevelopmental disorders
    VLDLR 96.00 0 Neurodevelopmental disorders
    VPS13B 100.00 0 Neurodevelopmental disorders
    VPS39 99.94 0 Neurodevelopmental disorders
    VPS4A 100.00 0 Neurodevelopmental disorders
    VRK1 100.00 0 Neurodevelopmental disorders
    WAC 100.00 0 Neurodevelopmental disorders
    WDFY3 100.00 0 Neurodevelopmental disorders
    WDR11 100.00 0 Neurodevelopmental disorders
    WDR13 99.05 0 Neurodevelopmental disorders
    WDR19 100.00 0 Neurodevelopmental disorders
    WDR26 99.54 0 Neurodevelopmental disorders
    WDR4 100.00 0 Neurodevelopmental disorders
    WDR45 100.00 0 Neurodevelopmental disorders
    WDR45B 99.94 0 Neurodevelopmental disorders
    WDR62 100.00 0 Neurodevelopmental disorders
    WDR73 100.00 0 Neurodevelopmental disorders
    WDR81 99.63 0 Neurodevelopmental disorders
    NSD2 100.00 0 Neurodevelopmental disorders
    WNT2 100.00 0 Neurodevelopmental disorders
    WRN 100.00 0 Neurodevelopmental disorders
    WWOX 100.00 0 Neurodevelopmental disorders
    XPA 98.10 0 Neurodevelopmental disorders
    XPNPEP3 100.00 0 Neurodevelopmental disorders
    XPO5 100.00 0 Neurodevelopmental disorders
    XYLT1 89.98 0 Neurodevelopmental disorders
    YAP1 99.86 0 Neurodevelopmental disorders
    YEATS2 100.00 0 Neurodevelopmental disorders
    YTHDC1 99.99 0 Neurodevelopmental disorders
    YWHAE 91.19 0 Neurodevelopmental disorders
    YY1 99.76 0 Neurodevelopmental disorders
    ZBTB11 100.00 0 Neurodevelopmental disorders
    ZBTB16 100.00 0 Neurodevelopmental disorders
    ZBTB18 99.54 0 Neurodevelopmental disorders
    ZBTB20 100.00 0 Neurodevelopmental disorders
    ZBTB24 100.00 0 Neurodevelopmental disorders
    ZC3H14 99.55 0 Neurodevelopmental disorders
    ZC3H4 99.95 0 Neurodevelopmental disorders
    ZCCHC12 100.00 0 Neurodevelopmental disorders
    ZDHHC15 98.46 0 Neurodevelopmental disorders
    ZDHHC9 100.00 0 Neurodevelopmental disorders
    ZEB2 99.96 0 Neurodevelopmental disorders
    ZFHX4 100.00 0 Neurodevelopmental disorders
    ZFP57 100.00 0 Neurodevelopmental disorders
    ZFYVE26 100.00 0 Neurodevelopmental disorders
    ZIC2 95.66 0 Neurodevelopmental disorders
    ZMYM3 99.98 0 Neurodevelopmental disorders
    ZMYND11 100.00 0 Neurodevelopmental disorders
    ZPR1 100.00 0 Neurodevelopmental disorders
    ZNF292 100.00 0 Neurodevelopmental disorders
    ZNF407 100.00 0 Neurodevelopmental disorders
    ZNF41 100.00 0 Neurodevelopmental disorders
    ZNF526 100.00 0 Neurodevelopmental disorders
    ZNF559 100.00 0 Neurodevelopmental disorders
    ZNF592 100.00 0 Neurodevelopmental disorders
    ZNF594 100.00 0 Neurodevelopmental disorders
    ZNF599 99.76 0 Neurodevelopmental disorders
    ZNF674 100.00 0 Neurodevelopmental disorders
    ZNF697 99.70 0 Neurodevelopmental disorders
    ZNF711 99.98 0 Neurodevelopmental disorders
    ZNF774 100.00 0 Neurodevelopmental disorders
    ZNF8 100.00 0 Neurodevelopmental disorders
    ZNF81 99.55 0 Neurodevelopmental disorders
    ZNF827 100.00 0 Neurodevelopmental disorders
    ZNRF3 94.23 0 Neurodevelopmental disorders
    ZWILCH 100.00 0 Neurodevelopmental disorders
  • Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 100.00 0 No comment
    ABCC6 100.00 0 No comment
    ABCC9 100.00 0 No comment
    ABCD1 99.93 0 No comment
    ABCD4 100.00 0 No comment
    ABCG5 100.00 0 No comment
    ABHD5 99.98 0 No comment
    ABI2 100.00 0 No comment
    ACAD9 100.00 0 No comment
    ACAT1 97.28 0 No comment
    ACO2 100.00 0 No comment
    ACOX1 100.00 0 No comment
    ACSF3 100.00 0 No comment
    ACSL4 100.00 0 No comment
    ACTB 100.00 0 No comment
    ACTG1 100.00 0 No comment
    ACVR1 100.00 0 No comment
    ACY1 100.00 0 No comment
    ADAR 100.00 0 No comment
    ADAT3 97.38 0 No comment
    ADCY5 94.52 0 No comment
    ADGRG1 100.00 0 No comment
    ADK 100.00 0 No comment
    ADNP 100.00 0 No comment
    ADRA2B 100.00 0 No comment
    ADSL 100.00 0 No comment
    AFF2 100.00 0 No comment
    AFF3 99.89 0 No comment
    AFP 100.00 0 No comment
    AGA 100.00 0 No comment
    AGBL4 100.00 0 No comment
    AGL 99.98 0 No comment
    AGPAT2 96.18 0 No comment
    AGXT 100.00 0 No comment
    AGTR2 100.00 0 No comment
    AHCY 100.00 0 No comment
    AHDC1 100.00 0 No comment
    AHI1 100.00 0 No comment
    AIFM1 100.00 0 No comment
    AIMP1 100.00 0 No comment
    AK1 100.00 0 No comment
    AKT1 100.00 0 No comment
    AKT1S1 99.49 0 No comment
    AKT3 100.00 0 No comment
    ALDH18A1 100.00 0 No comment
    ALDH3A2 99.95 0 No comment
    ALDH4A1 97.15 0 No comment
    ALDH5A1 83.59 0 No comment
    ALG1 92.65 0 No comment
    ALG11 100.00 0 No comment
    ALG12 100.00 0 No comment
    ALG13 99.96 0 No comment
    ALG2 99.94 0 No comment
    ALG3 99.22 0 No comment
    ALG6 100.00 0 No comment
    ALG9 98.65 0 No comment
    ALX1 100.00 0 No comment
    ALX4 99.70 0 No comment
    AMER1 100.00 0 No comment
    AMPD2 100.00 0 No comment
    AMT 99.94 0 No comment
    ANK2 100.00 0 No comment
    ANK3 100.00 0 No comment
    ANKH 100.00 0 No comment
    ANKRD11 100.00 0 No comment
    ANO10 100.00 0 No comment
    ANO3 100.00 0 No comment
    ANO5 100.00 0 No comment
    ANTXR1 100.00 0 No comment
    AP1S1 100.00 0 No comment
    AP1S2 100.00 0 No comment
    AP3B1 100.00 0 No comment
    AP4B1 100.00 0 No comment
    AP4E1 100.00 0 No comment
    AP4M1 100.00 0 No comment
    AP4S1 87.40 0 No comment
    APAF1 100.00 0 No comment
    APC 100.00 0 No comment
    APTX 100.00 0 No comment
    AQP7 100.00 0 No comment
    AR 99.29 0 No comment
    ARFGEF2 100.00 0 No comment
    ARG1 100.00 0 No comment
    ARHGEF4 100.00 0 No comment
    ARHGEF6 100.00 0 No comment
    ARHGEF7 99.95 0 No comment
    ARHGEF9 100.00 0 No comment
    ARID1A 94.64 0 No comment
    ARID1B 92.99 0 No comment
    ARID2 100.00 0 No comment
    ARL13B 100.00 0 No comment
    ARL6 100.00 0 No comment
    ARSL 100.00 0 No comment
    ARX 78.98 0 No comment
    ASH1L 100.00 0 No comment
    ASL 100.00 0 No comment
    ASNS 100.00 0 No comment
    ASPA 100.00 0 No comment
    ASPM 100.00 0 No comment
    ASS1 99.87 0 No comment
    ASTN2 91.86 0 No comment
    ASXL1 99.91 0 No comment
    ASXL3 100.00 0 No comment
    ATIC 99.06 0 No comment
    ATL1 100.00 0 No comment
    ATM 100.00 0 No comment
    ATP13A2 99.17 0 No comment
    ATP1A2 100.00 0 No comment
    ATP2A2 100.00 0 No comment
    ATP6AP2 99.95 0 No comment
    ATP6V0A2 100.00 0 No comment
    ATP7A 100.00 0 No comment
    ATP8A2 99.93 0 No comment
    ATRX 100.00 0 No comment
    ATXN1 100.00 0 No comment
    AUH 96.44 0 No comment
    AUTS2 98.20 0 No comment
    NLRP3 100.00 0 No comment
    AVPR2 100.00 0 No comment
    AXIN1 100.00 0 No comment
    B3GLCT 94.89 0 No comment
    B4GALT1 100.00 0 No comment
    B4GALT7 93.23 0 No comment
    BBS1 100.00 0 No comment
    BBS10 100.00 0 No comment
    BBS12 100.00 0 No comment
    BBS2 100.00 0 No comment
    BBS4 100.00 0 No comment
    BBS5 100.00 0 No comment
    BBS7 100.00 0 No comment
    BBS9 100.00 0 No comment
    BCKDHA 100.00 0 No comment
    BCKDHB 100.00 0 No comment
    BCL11A 100.00 0 No comment
    BCOR 100.00 0 No comment
    BCS1L 100.00 0 No comment
    BIN1 100.00 0 No comment
    BIRC6 100.00 0 No comment
    BLM 100.00 0 No comment
    BRAF 96.97 0 No comment
    BRCA2 100.00 0 No comment
    BRIP1 100.00 0 No comment
    BRWD3 100.00 0 No comment
    BSCL2 100.00 0 No comment
    BTD 100.00 0 No comment
    BUB1B 100.00 0 No comment
    C12ORF57 100.00 0 No comment
    MTRFR 100.00 0 No comment
    CA2 100.00 0 No comment
    CA8 100.00 0 No comment
    CACNA1A 98.78 0 No comment
    CACNA1B 96.03 0 No comment
    CACNA1C 100.00 0 No comment
    CACNA1D 100.00 0 No comment
    CACNA1F 99.89 0 No comment
    CACNA1G 100.00 0 No comment
    CACNA1H 97.35 0 No comment
    CACNA2D3 98.60 0 No comment
    CACNB2 100.00 0 No comment
    CACNG2 100.00 0 No comment
    CALM1 100.00 0 No comment
    CAMK2B 99.93 0 No comment
    CAMTA1 99.39 0 No comment
    CANT1 100.00 0 No comment
    CASK 100.00 0 No comment
    CBL 100.00 0 No comment
    CBS 100.00 0 No comment
    CC2D1A 100.00 0 No comment
    CC2D2A 98.16 0 No comment
    CCAR2 100.00 0 No comment
    CCBE1 99.97 0 No comment
    CCDC22 99.93 0 No comment
    CCDC39 100.00 0 No comment
    CCDC78 100.00 0 No comment
    CCDC88C 99.92 0 No comment
    CCNT1 100.00 0 No comment
    CCSER1 100.00 0 No comment
    CD163L1 100.00 0 No comment
    CDH15 97.06 0 No comment
    CDK5RAP2 100.00 0 No comment
    CDK6 100.00 0 No comment
    CDKL5 100.00 0 No comment
    CDKN1C 62.25 0 No comment
    CDON 100.00 0 No comment
    CELSR1 93.72 0 No comment
    CENPE 100.00 0 No comment
    CENPJ 100.00 0 No comment
    CEP135 100.00 0 No comment
    CEP152 100.00 0 No comment
    CEP290 99.99 0 No comment
    CEP41 100.00 0 No comment
    CEP55 100.00 0 No comment
    CEP57 100.00 0 No comment
    CFAP53 100.00 0 No comment
    CHAMP1 100.00 0 No comment
    CHAT 100.00 0 No comment
    CHD1 100.00 0 No comment
    CHD2 100.00 0 No comment
    CHD3 97.58 0 No comment
    CHD7 100.00 0 No comment
    CHD8 100.00 0 No comment
    CHKB 99.69 0 No comment
    CHRNA2 100.00 0 No comment
    CHRNA4 97.18 0 No comment
    CHRND 100.00 0 No comment
    CIC 99.99 0 No comment
    CLCN4 100.00 0 No comment
    CLCN7 94.99 0 No comment
    CLCNKB 100.00 0 No comment
    CLIC2 100.00 0 No comment
    CLIP1 100.00 0 No comment
    CLN3 100.00 0 No comment
    CLN5 99.94 0 No comment
    CLN6 90.35 0 No comment
    CLN8 100.00 0 No comment
    CLTC 100.00 0 No comment
    CMIP 99.97 0 No comment
    CNKSR2 100.00 0 No comment
    CNOT1 100.00 0 No comment
    CNOT3 100.00 0 No comment
    CNOT4 100.00 0 No comment
    CNOT6 100.00 0 No comment
    CNTN3 100.00 0 No comment
    CNTN4 100.00 0 No comment
    CNTNAP2 99.85 0 No comment
    COG1 99.24 0 No comment
    COG5 100.00 0 No comment
    COG6 100.00 0 No comment
    COG7 100.00 0 No comment
    COG8 100.00 0 No comment
    COL11A1 100.00 0 No comment
    COL1A2 99.93 0 No comment
    COL4A1 98.71 0 No comment
    COL4A2 100.00 0 No comment
    CERT1 100.00 0 No comment
    COLEC11 100.00 0 No comment
    COQ2 97.15 0 No comment
    COQ8A 100.00 0 No comment
    COX10 100.00 0 No comment
    COX15 100.00 0 No comment
    CP 100.00 0 No comment
    CYP2A6 100.00 0 No comment
    CPLANE1 100.00 0 No comment
    CYP21A2 100.00 0 No comment
    CRADD 100.00 0 No comment
    CRBN 100.00 0 No comment
    CREB1 100.00 0 No comment
    CREBBP 100.00 0 No comment
    CRPPA 95.75 0 No comment
    CSTF2T 100.00 0 No comment
    CTC1 100.00 0 No comment
    CTCF 100.00 0 No comment
    CTDP1 89.61 0 No comment
    CTNNB1 100.00 0 No comment
    CTNND2 93.57 0 No comment
    CTSA 100.00 0 No comment
    CTSD 99.45 0 No comment
    CTTNBP2 99.32 0 No comment
    CUBN 100.00 0 No comment
    CUL3 100.00 0 No comment
    CUL4B 100.00 0 No comment
    CUL5 100.00 0 No comment
    CUX2 100.00 0 No comment
    CYB5R3 96.25 0 No comment
    CYFIP1 100.00 0 No comment
    CYP27A1 99.68 0 No comment
    D2HGDH 100.00 0 No comment
    DAB1 100.00 0 No comment
    DAG1 100.00 0 No comment
    DAGLA 100.00 0 No comment
    DARS2 100.00 0 No comment
    DBT 100.00 0 No comment
    DCAF17 96.47 0 No comment
    DCLK2 100.00 0 No comment
    DCX 100.00 0 No comment
    DDHD2 100.00 0 No comment
    DDX11 100.00 0 No comment
    DDX3X 100.00 0 No comment
    DEAF1 87.03 0 No comment
    DHCR24 99.96 0 No comment
    DHCR7 100.00 0 No comment
    DHDDS 100.00 0 No comment
    DHFR 99.48 0 No comment
    DHTKD1 99.98 0 No comment
    DHX9 100.00 0 No comment
    DIAPH1 99.15 0 No comment
    DIAPH3 100.00 0 No comment
    DIP2A 99.92 0 No comment
    DIP2B 99.88 0 No comment
    DIPK2A 99.79 0 No comment
    DISC1 86.36 0 No comment
    DKC1 100.00 0 No comment
    DLD 100.00 0 No comment
    DLG2 100.00 0 No comment
    DLG3 99.83 0 No comment
    DLG4 100.00 0 No comment
    DMD 100.00 0 No comment
    DMPK 99.97 0 No comment
    DNAH5 100.00 0 No comment
    DNAJC19 100.00 0 No comment
    DNM1 94.44 0 No comment
    DNMT1 100.00 0 No comment
    DNMT3A 100.00 0 No comment
    DNMT3B 100.00 0 No comment
    DOCK8 99.43 0 No comment
    DPAGT1 100.00 0 No comment
    DPM1 100.00 0 No comment
    DPP6 96.95 0 No comment
    DPYD 100.00 0 No comment
    DSCAM 100.00 0 No comment
    DST 100.00 0 No comment
    DUSP15 83.99 0 No comment
    DYM 100.00 0 No comment
    DYNC1H1 100.00 0 No comment
    DYRK1A 100.00 0 No comment
    GLB1 100.00 0 No comment
    ECM2 100.00 0 No comment
    EFCAB5 97.32 0 No comment
    EFNB1 100.00 0 No comment
    EFTUD2 100.00 0 No comment
    EHMT1 98.85 0 No comment
    EIF2AK3 95.52 0 No comment
    EIF2S3 100.00 0 No comment
    EIF3G 100.00 0 No comment
    EIF4A1 100.00 0 No comment
    EIF4G1 100.00 0 No comment
    ELK1 100.00 0 No comment
    ELOVL4 100.00 0 No comment
    ELP2 100.00 0 No comment
    EML1 97.08 0 No comment
    EMX2 100.00 0 No comment
    EN2 88.10 0 No comment
    EP300 100.00 0 No comment
    EP400 100.00 0 No comment
    EPB41L1 100.00 0 No comment
    EPHA5 99.98 0 No comment
    EPHB2 97.39 0 No comment
    ERBB4 100.00 0 No comment
    ERCC2 100.00 0 No comment
    ERCC3 100.00 0 No comment
    ERCC5 100.00 0 No comment
    ERCC6 100.00 0 No comment
    ERCC8 100.00 0 No comment
    ERLIN2 100.00 0 No comment
    ESCO2 100.00 0 No comment
    ETFB 100.00 0 No comment
    ETHE1 99.88 0 No comment
    EXOSC3 100.00 0 No comment
    EXT1 100.00 0 No comment
    EZH2 100.00 0 No comment
    EZR 100.00 0 No comment
    F5 100.00 0 No comment
    FAAH2 100.00 0 No comment
    HYCC1 100.00 0 No comment
    FANCB 100.00 0 No comment
    FANCD2 100.00 0 No comment
    FANCG 100.00 0 No comment
    FBLN5 100.00 0 No comment
    FBN1 100.00 0 No comment
    FBN2 100.00 0 No comment
    FBXO31 91.75 0 No comment
    FBXO33 90.47 0 No comment
    FEZF2 97.53 0 No comment
    FGD1 99.39 0 No comment
    FGF12 100.00 0 No comment
    FGF14 99.99 0 No comment
    FGFR1 100.00 0 No comment
    FGFR2 100.00 0 No comment
    FGFR3 99.26 0 No comment
    FH 100.00 0 No comment
    FIGN 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNA 100.00 0 No comment
    FLVCR1 100.00 0 No comment
    FMN2 99.94 0 No comment
    FMR1 100.00 0 No comment
    FOLR1 100.00 0 No comment
    FOXG1 85.88 0 No comment
    FOXP1 100.00 0 No comment
    FOXP2 100.00 0 No comment
    FOXP3 100.00 0 No comment
    FRAS1 100.00 0 No comment
    FRMPD4 100.00 0 No comment
    FTCD 98.36 0 No comment
    FTO 100.00 0 No comment
    FTSJ1 100.00 0 No comment
    FUCA1 100.00 0 No comment
    G6PC3 100.00 0 No comment
    GABRA1 100.00 0 No comment
    GABRA5 100.00 0 No comment
    GABRB2 100.00 0 No comment
    GABRB3 99.79 0 No comment
    GABRG2 92.03 0 No comment
    GABRG3 99.96 0 No comment
    GAD1 100.00 0 No comment
    GALE 100.00 0 No comment
    GALK1 99.95 0 No comment
    GALNT18 100.00 0 No comment
    GALT 100.00 0 No comment
    GAMT 98.60 0 No comment
    GAN 99.52 0 No comment
    GARS1 99.53 0 No comment
    GAS2 100.00 0 No comment
    GATAD2B 100.00 0 No comment
    GATM 99.26 0 No comment
    GBA1 100.00 0 No comment
    GBE1 100.00 0 No comment
    GCH1 96.30 0 No comment
    GCK 100.00 0 No comment
    GCOM1 94.20 0 No comment
    GCSH 76.04 0 No comment
    GDI1 100.00 0 No comment
    GFAP 100.00 0 No comment
    GFM1 100.00 0 No comment
    GHR 99.82 0 No comment
    GIGYF1 100.00 0 No comment
    GJB1 99.54 0 No comment
    GJB6 100.00 0 No comment
    GJC2 81.91 0 No comment
    GK 99.94 0 No comment
    GLDC 96.53 0 No comment
    GLI2 95.11 0 No comment
    GLI3 100.00 0 No comment
    GLO1 100.00 0 No comment
    GLRA1 100.00 0 No comment
    GLUL 100.00 0 No comment
    GLYCTK 100.00 0 No comment
    GM2A 100.00 0 No comment
    GMPPA 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNAO1 100.00 0 No comment
    GNAQ 100.00 0 No comment
    GNAS 98.96 0 No comment
    GNPAT 100.00 0 No comment
    GNPTAB 100.00 0 No comment
    GNPTG 94.69 0 No comment
    GNRHR 100.00 0 No comment
    GNS 100.00 0 No comment
    GORASP2 99.92 0 No comment
    GP1BB 25.16 0 No comment
    GPC3 100.00 0 No comment
    GPHN 100.00 0 No comment
    GPR37 100.00 0 No comment
    GPT2 96.29 0 No comment
    GRIA3 100.00 0 No comment
    GRID2 100.00 0 No comment
    GRIK2 100.00 0 No comment
    GRIN1 99.97 0 No comment
    GRIN2A 100.00 0 No comment
    GRIN2B 100.00 0 No comment
    GRIN3B 86.11 0 No comment
    GRM1 100.00 0 No comment
    GSE1 99.97 0 No comment
    GSPT2 100.00 0 No comment
    GSS 100.00 0 No comment
    GTF2H5 100.00 0 No comment
    GTF2IRD1 100.00 0 No comment
    GTF3C1 100.00 0 No comment
    GUSB 100.00 0 No comment
    GYS2 100.00 0 No comment
    HAL 100.00 0 No comment
    HAX1 100.00 0 No comment
    HCCS 100.00 0 No comment
    HCFC1 100.00 0 No comment
    HCN1 95.88 0 No comment
    HDAC4 100.00 0 No comment
    HDAC6 100.00 0 No comment
    HDAC8 100.00 0 No comment
    HDAC9 100.00 0 No comment
    HECTD1 100.00 0 No comment
    HECW2 100.00 0 No comment
    HEPACAM 96.82 0 No comment
    HERC1 100.00 0 No comment
    HERC2 99.62 0 No comment
    HESX1 100.00 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.82 0 No comment
    H4C2 100.00 0 No comment
    HIVEP2 100.00 0 No comment
    HLCS 100.00 0 No comment
    HMGA2 81.94 0 No comment
    HNRNPU 99.54 0 No comment
    HNRNPUL1 99.73 0 No comment
    HOXA1 100.00 0 No comment
    HOXB1 100.00 0 No comment
    HOXD10 100.00 0 No comment
    HPD 100.00 0 No comment
    HPRT1 94.60 0 No comment
    HRAS 100.00 0 No comment
    HSD17B10 100.00 0 No comment
    HSPA4 100.00 0 No comment
    HSPD1 99.53 0 No comment
    HTR2A 100.00 0 No comment
    HUWE1 100.00 0 No comment
    IDH2 92.01 0 No comment
    IDS 100.00 0 No comment
    IDUA 88.67 0 No comment
    IER3IP1 99.93 0 No comment
    IFT172 100.00 0 No comment
    IGBP1 100.00 0 No comment
    IGF1 100.00 0 No comment
    IGF1R 100.00 0 No comment
    IKBKG 99.74 0 No comment
    IL1RAPL1 100.00 0 No comment
    ILF2 100.00 0 No comment
    INPP5E 99.54 0 No comment
    INSR 97.31 0 No comment
    IQSEC2 99.73 0 No comment
    IRS1 100.00 0 No comment
    IRX5 94.92 0 No comment
    ITGA7 100.00 0 No comment
    ITGB3 97.94 0 No comment
    ITPR1 100.00 0 No comment
    JADE2 100.00 0 No comment
    JAG1 99.66 0 No comment
    JAM3 100.00 0 No comment
    JUP 100.00 0 No comment
    KANK1 100.00 0 No comment
    KANSL1 100.00 0 No comment
    KAT6A 100.00 0 No comment
    KAT6B 100.00 0 No comment
    KATNAL2 100.00 0 No comment
    KCNA1 100.00 0 No comment
    KCNH1 100.00 0 No comment
    KCNJ10 100.00 0 No comment
    KCNJ11 100.00 0 No comment
    KCNK9 100.00 0 No comment
    KCNMA1 99.94 0 No comment
    KCNQ2 99.98 0 No comment
    KCNQ3 96.44 0 No comment
    KCNQ4 92.42 0 No comment
    KCNT1 99.74 0 No comment
    KCTD7 97.35 0 No comment
    KDM5A 100.00 0 No comment
    KDM5B 100.00 0 No comment
    KDM5C 100.00 0 No comment
    KDM6A 100.00 0 No comment
    KDM6B 99.91 0 No comment
    BLTP1 100.00 0 No comment
    KIF11 100.00 0 No comment
    KIF1A 99.90 0 No comment
    KIFBP 100.00 0 No comment
    KIF21A 99.23 0 No comment
    KIF2A 98.88 0 No comment
    KIF4A 100.00 0 No comment
    KIF5A 100.00 0 No comment
    KIF5C 100.00 0 No comment
    KIF7 96.94 0 No comment
    KIRREL3 100.00 0 No comment
    KIT 100.00 0 No comment
    KLC2 100.00 0 No comment
    KLF8 100.00 0 No comment
    KMT2A 98.66 0 No comment
    KMT2C 100.00 0 No comment
    KMT2D 100.00 0 No comment
    KMT2E 100.00 0 No comment
    KMT5B 100.00 0 No comment
    KPTN 100.00 0 No comment
    KRAS 100.00 0 No comment
    KRBOX4 100.00 0 No comment
    KRT24 100.00 0 No comment
    L1CAM 100.00 0 No comment
    L2HGDH 99.96 0 No comment
    LAMA1 99.93 0 No comment
    LAMA2 100.00 0 No comment
    LAMB1 100.00 0 No comment
    LAMC3 97.51 0 No comment
    LAMP2 100.00 0 No comment
    LARGE1 100.00 0 No comment
    LARP7 100.00 0 No comment
    LAS1L 100.00 0 No comment
    LBR 100.00 0 No comment
    LCT 100.00 0 No comment
    LHX3 94.36 0 No comment
    LIG4 100.00 0 No comment
    LINS1 100.00 0 No comment
    LMBRD1 100.00 0 No comment
    LRP1 100.00 0 No comment
    LRP2 99.96 0 No comment
    LRP5 97.87 0 No comment
    LRPPRC 99.14 0 No comment
    LRRC7 100.00 0 No comment
    LYST 100.00 0 No comment
    MACF1 100.00 0 No comment
    MAGEL2 99.43 0 No comment
    MAGT1 100.00 0 No comment
    MAN1B1 99.99 0 No comment
    MAN2B1 100.00 0 No comment
    MANBA 99.97 0 No comment
    MAOA 99.95 0 No comment
    MAP2 100.00 0 No comment
    MAP2K1 100.00 0 No comment
    MAP2K2 99.98 0 No comment
    MAPK1 93.93 0 No comment
    MAPT 100.00 0 No comment
    MAT1A 100.00 0 No comment
    MBD3 99.22 0 No comment
    MBD5 100.00 0 No comment
    MBTPS2 100.00 0 No comment
    MCCC1 100.00 0 No comment
    MCCC2 99.99 0 No comment
    MCOLN1 97.27 0 No comment
    MCPH1 100.00 0 No comment
    MDM2 100.00 0 No comment
    MECP2 98.28 0 No comment
    MED12 99.96 0 No comment
    MED13L 100.00 0 No comment
    MED17 100.00 0 No comment
    MED23 100.00 0 No comment
    MEF2C 100.00 0 No comment
    MET 100.00 0 No comment
    METTL23 100.00 0 No comment
    MFRP 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MGAT2 100.00 0 No comment
    MIB1 100.00 0 No comment
    MID1 100.00 0 No comment
    MID2 100.00 0 No comment
    MIR222 100.00 0 No comment
    MKKS 100.00 0 No comment
    MLH1 100.00 0 No comment
    MLYCD 85.50 0 No comment
    MMAA 100.00 0 No comment
    MMACHC 100.00 0 No comment
    MMADHC 100.00 0 No comment
    MMUT 100.00 0 No comment
    MOCS1 99.95 0 No comment
    MOCS2 100.00 0 No comment
    MOGS 98.73 0 No comment
    MPDU1 100.00 0 No comment
    MPDZ 100.00 0 No comment
    MPHOSPH8 100.00 0 No comment
    MPI 100.00 0 No comment
    MPLKIP 100.00 0 No comment
    MPZ 100.00 0 No comment
    MRAP 100.00 0 No comment
    MRPS22 100.00 0 No comment
    MSH6 100.00 0 No comment
    MTFMT 99.11 0 No comment
    MTHFR 100.00 0 No comment
    MTHFS 99.64 0 No comment
    MTM1 100.00 0 No comment
    MTMR2 100.00 0 No comment
    MTR 100.00 0 No comment
    MTRR 100.00 0 No comment
    MVK 100.00 0 No comment
    MYCN 86.70 0 No comment
    MYH7B 100.00 0 No comment
    MYH9 100.00 0 No comment
    MYO1E 99.92 0 No comment
    MYO3A 100.00 0 No comment
    MYO5A 99.60 0 No comment
    MYO7A 100.00 0 No comment
    MYOC 100.00 0 No comment
    MYT1L 100.00 0 No comment
    NAA10 96.03 0 No comment
    NAA15 100.00 0 No comment
    NAGA 100.00 0 No comment
    NAGLU 87.38 0 No comment
    NALCN 100.00 0 No comment
    NBN 100.00 0 No comment
    NCKAP1 100.00 0 No comment
    NDE1 100.00 0 No comment
    NDP 100.00 0 No comment
    NDST1 100.00 0 No comment
    NDUFA1 100.00 0 No comment
    NDUFA11 98.06 0 No comment
    NDUFA12 100.00 0 No comment
    NDUFAF5 100.00 0 No comment
    NDUFS1 100.00 0 No comment
    NDUFS2 100.00 0 No comment
    NDUFS3 100.00 0 No comment
    NDUFS4 100.00 0 No comment
    NDUFS7 99.49 0 No comment
    NDUFS8 100.00 0 No comment
    NDUFV1 100.00 0 No comment
    NECTIN1 100.00 0 No comment
    NEDD4L 100.00 0 No comment
    NEU1 100.00 0 No comment
    NEXMIF 100.00 0 No comment
    NF1 99.95 0 No comment
    NFATC1 99.84 0 No comment
    NFIA 100.00 0 No comment
    NFIX 97.15 0 No comment
    NGF 100.00 0 No comment
    NHEJ1 100.00 0 No comment
    NHP2 100.00 0 No comment
    NHS 93.25 0 No comment
    NIPBL 99.98 0 No comment
    NKX2-1 92.46 0 No comment
    NLGN1 100.00 0 No comment
    NLGN3 100.00 0 No comment
    NLGN4X 100.00 0 No comment
    NLGN4Y 55.32 0 No comment
    NOG 100.00 0 No comment
    NOTCH3 92.99 0 No comment
    NPC1 98.40 0 No comment
    NPC2 100.00 0 No comment
    NPHP1 100.00 0 No comment
    NPHP3 99.87 0 No comment
    NR2F1 92.00 0 No comment
    NR3C2 100.00 0 No comment
    NR4A2 100.00 0 No comment
    NRAS 100.00 0 No comment
    NRCAM 100.00 0 No comment
    NRXN1 98.52 0 No comment
    NRXN2 88.11 0 No comment
    NSD1 100.00 0 No comment
    NSD2 100.00 0 No comment
    NSDHL 100.00 0 No comment
    NSUN2 99.70 0 No comment
    NTRK1 98.72 0 No comment
    NTRK2 100.00 0 No comment
    NUAK1 99.97 0 No comment
    NUS1 100.00 0 No comment
    NXF5 100.00 0 No comment
    OBSL1 98.31 0 No comment
    OCA2 100.00 0 No comment
    OCLN 100.00 0 No comment
    OCRL 99.77 0 No comment
    OFD1 99.88 0 No comment
    OPHN1 100.00 0 No comment
    SLC25A15 100.00 0 No comment
    OTC 100.00 0 No comment
    OXTR 91.19 0 No comment
    PACS1 96.93 0 No comment
    PAFAH1B1 100.00 0 No comment
    PAH 99.94 0 No comment
    PAK3 100.00 0 No comment
    PANK2 98.60 0 No comment
    PARP1 100.00 0 No comment
    PAX1 89.02 0 No comment
    PAX5 100.00 0 No comment
    PAX6 100.00 0 No comment
    PAX8 100.00 0 No comment
    PBRM1 100.00 0 No comment
    PODXL 100.00 0 No comment
    PCDH10 100.00 0 No comment
    PCDH19 99.91 0 No comment
    PCGF2 100.00 0 No comment
    PCNT 100.00 0 No comment
    PDE1C 100.00 0 No comment
    PDE4D 98.77 0 No comment
    PDE8B 96.32 0 No comment
    PDHA1 98.17 0 No comment
    PDHX 99.87 0 No comment
    PDSS1 86.24 0 No comment
    PDSS2 100.00 0 No comment
    PEPD 99.77 0 No comment
    PER2 100.00 0 No comment
    PEX1 100.00 0 No comment
    PEX10 88.47 0 No comment
    PEX11B 100.00 0 No comment
    PEX12 100.00 0 No comment
    PEX13 100.00 0 No comment
    PEX16 100.00 0 No comment
    PEX19 100.00 0 No comment
    PEX2 100.00 0 No comment
    PEX26 100.00 0 No comment
    PEX3 100.00 0 No comment
    PEX5 100.00 0 No comment
    PEX6 98.56 0 No comment
    PEX7 91.13 0 No comment
    PGA5 100.00 0 No comment
    PGAP1 100.00 0 No comment
    PGAP2 100.00 0 No comment
    PGAP3 99.90 0 No comment
    PGK1 100.00 0 No comment
    PHF2 99.71 0 No comment
    PHF21A 100.00 0 No comment
    PHF6 100.00 0 No comment
    PHF8 100.00 0 No comment
    PHGDH 100.00 0 No comment
    PHIP 99.09 0 No comment
    PHKA2 100.00 0 No comment
    PHKG2 100.00 0 No comment
    PIAS1 100.00 0 No comment
    PIGA 100.00 0 No comment
    PIGL 100.00 0 No comment
    PIGN 100.00 0 No comment
    PIGO 100.00 0 No comment
    PIGT 100.00 0 No comment
    PIGV 100.00 0 No comment
    PIK3R2 89.19 0 No comment
    PLA2G6 100.00 0 No comment
    PLCB1 100.00 0 No comment
    PLP1 100.00 0 No comment
    PMM2 100.00 0 No comment
    PNKP 100.00 0 No comment
    PNP 100.00 0 No comment
    POC1A 99.95 0 No comment
    POGZ 100.00 0 No comment
    POLG 100.00 0 No comment
    POLR2M 100.00 0 No comment
    POLR3A 100.00 0 No comment
    POLR3B 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMGNT2 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.90 0 No comment
    PORCN 100.00 0 No comment
    POT1 100.00 0 No comment
    POU1F1 100.00 0 No comment
    POU3F4 100.00 0 No comment
    PPM1D 100.00 0 No comment
    HCRT 100.00 0 No comment
    PPP1R1B 100.00 0 No comment
    PPP2R1A 100.00 0 No comment
    PPP2R5D 100.00 0 No comment
    PPT1 100.00 0 No comment
    PQBP1 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRKAR1A 100.00 0 No comment
    PRKRA 90.07 0 No comment
    PRODH 86.43 0 No comment
    PRPS1 100.00 0 No comment
    PRRT2 100.00 0 No comment
    PRSS12 99.65 0 No comment
    PSAP 100.00 0 No comment
    PSEN1 100.00 0 No comment
    PTCH1 98.48 0 No comment
    PTCHD1 99.99 0 No comment
    PTDSS1 100.00 0 No comment
    PTEN 98.86 0 No comment
    PTHLH 100.00 0 No comment
    PTPN11 98.80 0 No comment
    PUF60 99.86 0 No comment
    PURA 85.32 0 No comment
    PUS1 99.08 0 No comment
    PYCR1 100.00 0 No comment
    PYGL 100.00 0 No comment
    RAB11A 100.00 0 No comment
    RAB18 100.00 0 No comment
    RAB27A 100.00 0 No comment
    RAB39B 100.00 0 No comment
    RAB3GAP1 100.00 0 No comment
    RAB3GAP2 100.00 0 No comment
    RAB40AL 100.00 0 No comment
    RABL6 99.93 0 No comment
    RAC1 93.90 0 No comment
    RAD21 100.00 0 No comment
    RAF1 100.00 0 No comment
    RAI1 96.06 0 No comment
    RALGDS 94.60 0 No comment
    RANBP17 98.90 0 No comment
    RAPSN 100.00 0 No comment
    RARS2 100.00 0 No comment
    RASGEF1B 100.00 0 No comment
    RBBP8 100.00 0 No comment
    RBFOX1 99.94 0 No comment
    RBL2 99.65 0 No comment
    RBM10 100.00 0 No comment
    RBM28 99.99 0 No comment
    RELN 99.96 0 No comment
    RERE 99.97 0 No comment
    RFT1 100.00 0 No comment
    RFX3 100.00 0 No comment
    RFX6 100.00 0 No comment
    RIC8A 100.00 0 No comment
    RIMS1 99.79 0 No comment
    RIT1 100.00 0 No comment
    RMND1 100.00 0 No comment
    RMRP 100.00 0 No comment
    RNASEH2A 100.00 0 No comment
    RNASEH2B 95.67 0 No comment
    RNASEH2C 100.00 0 No comment
    RNASET2 99.98 0 No comment
    RNF213 100.00 0 No comment
    ROGDI 91.80 0 No comment
    RP2 100.00 0 No comment
    RPGRIP1L 96.45 0 No comment
    RPL15 100.00 0 No comment
    RPS6KA2 98.15 0 No comment
    RPS6KA3 98.71 0 No comment
    RTEL1 100.00 0 No comment
    RTN2 99.98 0 No comment
    RUBCN 97.68 0 No comment
    RUNX1 99.96 0 No comment
    RUVBL1 100.00 0 No comment
    RYR1 98.38 0 No comment
    RYR2 100.00 0 No comment
    S100G 100.00 0 No comment
    SACS 99.97 0 No comment
    SALL1 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SARS2 100.00 0 No comment
    SATB2 100.00 0 No comment
    SBF1 98.81 0 No comment
    SC5D 100.00 0 No comment
    SCAPER 100.00 0 No comment
    SCN1A 100.00 0 No comment
    SCN2A 100.00 0 No comment
    SCN7A 100.00 0 No comment
    SCN8A 100.00 0 No comment
    SCN9A 100.00 0 No comment
    SCO2 100.00 0 No comment
    SDCCAG8 100.00 0 No comment
    SDHA 98.02 0 No comment
    SDK1 95.93 0 No comment
    SERAC1 100.00 0 No comment
    SERPINB12 100.00 0 No comment
    SETBP1 99.99 0 No comment
    SETD5 100.00 0 No comment
    NR5A1 86.69 0 No comment
    SFPQ 98.66 0 No comment
    SGCA 100.00 0 No comment
    SGSH 99.99 0 No comment
    SHANK1 96.45 0 No comment
    SHANK2 100.00 0 No comment
    SHANK3 83.99 0 No comment
    SHH 92.83 0 No comment
    SHOC2 100.00 0 No comment
    SHOX 90.47 0 No comment
    SHROOM4 100.00 0 No comment
    SIL1 100.00 0 No comment
    SIN3A 99.82 0 No comment
    SIX3 99.59 0 No comment
    HHAT 90.28 0 No comment
    SLC12A6 100.00 0 No comment
    SLC16A2 100.00 0 No comment
    SLC17A5 100.00 0 No comment
    SLC1A1 100.00 0 No comment
    SLC1A4 97.95 0 No comment
    SLC20A2 100.00 0 No comment
    SLC24A2 100.00 0 No comment
    SLC25A1 93.77 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A13 99.94 0 No comment
    SLC25A22 100.00 0 No comment
    SLC25A24 99.82 0 No comment
    SLC26A9 100.00 0 No comment
    SLC2A1 99.94 0 No comment
    SLC2A2 100.00 0 No comment
    SLC33A1 100.00 0 No comment
    SLC35A2 100.00 0 No comment
    SLC35C1 100.00 0 No comment
    SLC46A1 99.95 0 No comment
    SLC4A4 100.00 0 No comment
    SLC5A2 100.00 0 No comment
    SLC5A5 100.00 0 No comment
    SLC6A1 100.00 0 No comment
    SLC6A17 100.00 0 No comment
    SLC6A3 100.00 0 No comment
    SLC6A4 100.00 0 No comment
    SLC6A8 98.78 0 No comment
    SLC7A7 100.00 0 No comment
    SLC9A6 99.96 0 No comment
    SLC9A9 100.00 0 No comment
    SLCO1B1 100.00 0 No comment
    SLCO1B3 100.00 0 No comment
    SLX4 100.00 0 No comment
    SMAD2 100.00 0 No comment
    SMAD4 100.00 0 No comment
    SMARCA2 98.07 0 No comment
    SMARCA4 100.00 0 No comment
    SMARCB1 100.00 0 No comment
    SMARCC2 100.00 0 No comment
    SMARCE1 100.00 0 No comment
    SMC1A 100.00 0 No comment
    SMC3 100.00 0 No comment
    SMG6 97.90 0 No comment
    SMOC1 99.36 0 No comment
    SMPD1 100.00 0 No comment
    SNAP29 100.00 0 No comment
    SNIP1 100.00 0 No comment
    SNX14 100.00 0 No comment
    SNX19 100.00 0 No comment
    SOBP 87.96 0 No comment
    SOS1 100.00 0 No comment
    SOX10 96.79 0 No comment
    SOX11 99.01 0 No comment
    SOX2 98.05 0 No comment
    SOX3 85.62 0 No comment
    SOX5 100.00 0 No comment
    SPAST 100.00 0 No comment
    SPG11 100.00 0 No comment
    SPG7 96.56 0 No comment
    SPR 96.81 0 No comment
    SPRED1 100.00 0 No comment
    SPTAN1 100.00 0 No comment
    SPTLC1 99.99 0 No comment
    SRCAP 100.00 0 No comment
    SRD5A3 99.42 0 No comment
    SREBF2 100.00 0 No comment
    SRGAP3 100.00 0 No comment
    SRPX2 100.00 0 No comment
    ST3GAL3 100.00 0 No comment
    ST3GAL5 92.64 0 No comment
    STAG1 100.00 0 No comment
    STAT5B 100.00 0 No comment
    STIL 100.00 0 No comment
    STRA6 100.00 0 No comment
    STS 100.00 0 No comment
    STT3A 100.00 0 No comment
    STT3B 99.25 0 No comment
    STX11 100.00 0 No comment
    STXBP1 100.00 0 No comment
    STXBP5 100.00 0 No comment
    SUCLA2 100.00 0 No comment
    SUCLG1 95.74 0 No comment
    SUOX 100.00 0 No comment
    SUPT16H 100.00 0 No comment
    SURF1 87.74 0 No comment
    SYN1 95.92 0 No comment
    SYNE1 100.00 0 No comment
    SYNGAP1 100.00 0 No comment
    SYP 99.27 0 No comment
    SYT14 93.04 0 No comment
    SYT3 100.00 0 No comment
    TAF1 100.00 0 No comment
    TAF2 100.00 0 No comment
    TAT 100.00 0 No comment
    TBC1D24 100.00 0 No comment
    TBC1D7 100.00 0 No comment
    TBCE 100.00 0 No comment
    TBR1 94.13 0 No comment
    TBX1 77.39 0 No comment
    TCF20 100.00 0 No comment
    TCF3 100.00 0 No comment
    TCF4 100.00 0 No comment
    TCF7L2 99.98 0 No comment
    TECR 100.00 0 No comment
    TENM1 100.00 0 No comment
    TFAP2A 100.00 0 No comment
    TGFBR1 92.91 0 No comment
    TGFBR2 100.00 0 No comment
    TGIF1 100.00 0 No comment
    TGM1 100.00 0 No comment
    TH 99.95 0 No comment
    THOC2 99.99 0 No comment
    THOC6 100.00 0 No comment
    THRA 100.00 0 No comment
    THRB 100.00 0 No comment
    TIMM8A 100.00 0 No comment
    TINF2 100.00 0 No comment
    TMCO1 100.00 0 No comment
    TMEM107 100.00 0 No comment
    TMEM135 100.00 0 No comment
    TMEM165 89.91 0 No comment
    TMEM216 100.00 0 No comment
    TMEM231 100.00 0 No comment
    TMEM237 99.97 0 No comment
    TMEM67 100.00 0 No comment
    TMEM70 100.00 0 No comment
    TMLHE 100.00 0 No comment
    TNK2 100.00 0 No comment
    TNRC6B 100.00 0 No comment
    TOPORS 100.00 0 No comment
    TOR1A 99.99 0 No comment
    TDO2 100.00 0 No comment
    TPK1 100.00 0 No comment
    THPO 99.84 0 No comment
    ACD 100.00 0 No comment
    TRAPPC10 99.93 0 No comment
    TRAPPC11 100.00 0 No comment
    TRAPPC9 99.98 0 No comment
    TREX1 100.00 0 No comment
    TRHR 100.00 0 No comment
    TRIM10 100.00 0 No comment
    TRIM3 100.00 0 No comment
    TRIM32 100.00 0 No comment
    TRIO 97.46 0 No comment
    TRIP12 100.00 0 No comment
    TRMT1 100.00 0 No comment
    TRMT10A 100.00 0 No comment
    TRPM6 100.00 0 No comment
    TRPV4 100.00 0 No comment
    TSC1 100.00 0 No comment
    TSC2 100.00 0 No comment
    TSEN54 94.23 0 No comment
    TSHR 100.00 0 No comment
    TSPAN7 99.99 0 No comment
    TSPOAP1 99.98 0 No comment
    SKIC3 100.00 0 No comment
    TTC8 100.00 0 No comment
    TTI1 100.00 0 No comment
    TTI2 100.00 0 No comment
    TTR 100.00 0 No comment
    TUBA1A 100.00 0 No comment
    TUBA8 100.00 0 No comment
    TUBB2B 100.00 0 No comment
    TUBB3 98.24 0 No comment
    TUBGCP6 100.00 0 No comment
    TUSC3 100.00 0 No comment
    TWIST1 70.93 0 No comment
    UBE2A 99.62 0 No comment
    UBE3A 100.00 0 No comment
    UBE3B 100.00 0 No comment
    UBR1 100.00 0 No comment
    UBTF 100.00 0 No comment
    UPB1 100.00 0 No comment
    UPF3B 100.00 0 No comment
    UROC1 100.00 0 No comment
    USP9X 100.00 0 No comment
    UTP6 100.00 0 No comment
    VCP 98.45 0 No comment
    VLDLR 96.53 0 No comment
    VPS13B 99.25 0 No comment
    VPS39 100.00 0 No comment
    VPS4A 100.00 0 No comment
    VRK1 100.00 0 No comment
    WAC 100.00 0 No comment
    WASHC4 99.72 0 No comment
    WDFY3 100.00 0 No comment
    WDR11 100.00 0 No comment
    WDR13 100.00 0 No comment
    WDR19 100.00 0 No comment
    WDR26 100.00 0 No comment
    WDR45 100.00 0 No comment
    WDR45B 100.00 0 No comment
    WDR62 100.00 0 No comment
    WDR81 99.97 0 No comment
    WNT2 100.00 0 No comment
    WRN 100.00 0 No comment
    WWOX 100.00 0 No comment
    XPA 99.35 0 No comment
    XPNPEP3 93.18 0 No comment
    XPO5 100.00 0 No comment
    XYLT1 88.83 0 No comment
    YAP1 96.50 0 No comment
    YEATS2 100.00 0 No comment
    YWHAE 98.69 0 No comment
    YY1 99.92 0 No comment
    ZBTB16 100.00 0 No comment
    ZBTB18 100.00 0 No comment
    ZBTB20 100.00 0 No comment
    ZBTB24 100.00 0 No comment
    ZC3H14 100.00 0 No comment
    ZC3H4 99.94 0 No comment
    ZCCHC12 100.00 0 No comment
    ZDHHC15 100.00 0 No comment
    ZDHHC9 100.00 0 No comment
    ZEB2 100.00 0 No comment
    ZFHX4 100.00 0 No comment
    ZFP57 100.00 0 No comment
    ZFYVE26 100.00 0 No comment
    ZIC2 80.54 0 No comment
    ZMYM3 100.00 0 No comment
    ZMYND11 100.00 0 No comment
    ZNF292 100.00 0 No comment
    ZNF407 100.00 0 No comment
    ZNF41 100.00 0 No comment
    ZNF526 100.00 0 No comment
    ZNF559 100.00 0 No comment
    ZNF592 100.00 0 No comment
    ZNF594 100.00 0 No comment
    ZNF599 100.00 0 No comment
    ZNF674 100.00 0 No comment
    ZNF697 95.04 0 No comment
    ZNF711 100.00 0 No comment
    ZNF774 100.00 0 No comment
    ZNF8 100.00 0 No comment
    ZNF81 100.00 0 No comment
    ZNF827 100.00 0 No comment
  • Neuromuscular disorders (548 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 No comment
    ABCD1 97.56 0 No comment
    ABHD12 88.30 0 No comment
    ABHD5 99.85 0 No comment
    ACAD9 100.00 0 No comment
    ACADL 98.57 0 No comment
    ACADM 99.87 0 No comment
    ACADS 97.51 0 No comment
    ACADVL 98.04 0 No comment
    ACTA1 99.79 0 No comment
    ACVR1 100.00 0 No comment
    ADAR 100.00 0 No comment
    ADSS1 99.98 0 No comment
    AFG3L2 94.80 0 No comment
    AGK 100.00 0 No comment
    AGL 100.00 0 No comment
    AGRN 96.53 0 No comment
    AIFM1 99.98 0 No comment
    AIMP1 99.97 0 No comment
    ALDH18A1 100.00 0 No comment
    ALDH3A2 99.94 0 No comment
    ALDOA 100.00 0 No comment
    ALG13 99.53 0 No comment
    ALG14 100.00 0 No comment
    ALG2 99.83 0 No comment
    ALS2 100.00 0 No comment
    AMPD1 100.00 0 No comment
    AMPD2 99.90 0 No comment
    ANG 100.00 0 No comment
    ANO5 100.00 0 No comment
    ANXA11 99.99 0 No comment
    AP4B1 100.00 0 No comment
    AP4E1 99.99 0 No comment
    AP4M1 100.00 0 No comment
    AP4S1 100.00 0 No comment
    AP5Z1 99.25 0 No comment
    APTX 99.96 0 No comment
    AR 100.00 0 No comment
    ARG1 100.00 0 No comment
    ARHGEF10 99.98 0 No comment
    ARHGEF28 99.05 0 No comment
    ARL6IP1 100.00 0 No comment
    ARSI 99.82 0 No comment
    ASAH1 100.00 0 No comment
    ASCC1 91.30 0 No comment
    ATL1 99.89 0 No comment
    ATL3 99.93 0 No comment
    ATM 100.00 0 No comment
    ATP13A2 98.30 0 No comment
    ATP1A1 100.00 0 No comment
    ATP2A1 100.00 0 No comment
    ATP7A 100.00 0 No comment
    ATXN2 93.25 0 No comment
    AUH 99.24 0 No comment
    B3GALNT2 92.96 0 No comment
    B4GAT1 99.99 0 No comment
    B4GALNT1 99.99 0 No comment
    BAG3 100.00 0 No comment
    BCS1L 100.00 0 No comment
    BICD2 100.00 0 No comment
    BIN1 99.94 0 No comment
    BSCL2 100.00 0 No comment
    BVES 100.00 0 No comment
    TWNK 100.00 0 No comment
    MTRFR 100.00 0 No comment
    C19ORF12 100.00 0 No comment
    C1QBP 99.47 0 No comment
    C9ORF72 99.96 0 No comment
    CACNA1A 99.53 0 No comment
    CACNA1S 100.00 0 No comment
    CAPN1 99.97 0 No comment
    CAPN3 99.99 0 No comment
    CASQ1 100.00 0 No comment
    CAV3 100.00 0 No comment
    CCDC78 100.00 0 No comment
    CCT5 99.92 0 No comment
    CFL2 100.00 0 No comment
    CHAT 99.97 0 No comment
    CHCHD10 99.66 0 No comment
    CHKB 99.75 0 No comment
    CHMP2B 100.00 0 No comment
    CHRNA1 99.99 0 No comment
    CHRNB1 99.95 0 No comment
    CHRND 100.00 0 No comment
    CHRNE 100.00 0 No comment
    CHRNG 99.87 0 No comment
    CHST14 99.50 0 No comment
    CLCN1 100.00 0 No comment
    CLN3 100.00 0 No comment
    CLN8 100.00 0 No comment
    CLTCL1 99.04 0 No comment
    CNBP 100.00 0 No comment
    CNTN1 100.00 0 No comment
    CNTNAP1 100.00 0 No comment
    COL12A1 100.00 0 No comment
    COL13A1 99.52 0 No comment
    COL6A1 99.90 0 No comment
    COL6A2 99.98 0 No comment
    COL6A3 100.00 0 No comment
    COLQ 100.00 0 No comment
    COQ9 100.00 0 No comment
    COX10 100.00 0 No comment
    COX15 99.99 0 No comment
    COX20 100.00 0 No comment
    COX6A1 100.00 0 No comment
    COX6B1 100.00 0 No comment
    COX8A 100.00 0 No comment
    CPT1C 100.00 0 No comment
    CPT2 98.55 0 No comment
    CRYAB 100.00 0 No comment
    CSF1R 99.99 0 No comment
    CTDP1 100.00 0 No comment
    CYP27A1 99.38 0 No comment
    CYP2U1 93.20 0 No comment
    CYP7B1 95.41 0 No comment
    DAG1 100.00 0 No comment
    DARS2 100.00 0 No comment
    DCAF8 100.00 0 No comment
    DCTN1 100.00 0 No comment
    DDHD1 99.58 0 No comment
    DDHD2 100.00 0 No comment
    DES 100.00 0 No comment
    DGAT2 100.00 0 No comment
    DGUOK 100.00 0 No comment
    DHTKD1 99.54 0 No comment
    DMD 99.96 0 No comment
    DMPK 99.91 0 No comment
    DMXL2 100.00 0 No comment
    DNAJB2 100.00 0 No comment
    DNAJB6 91.94 0 No comment
    DNM2 99.84 0 No comment
    DNMT1 99.54 0 No comment
    DOK7 97.44 0 No comment
    DOLK 100.00 0 No comment
    DPAGT1 100.00 0 No comment
    DPM1 100.00 0 No comment
    DPM2 100.00 0 No comment
    DPM3 100.00 0 No comment
    DST 100.00 0 No comment
    DYNC1H1 99.92 0 No comment
    DYSF 99.72 0 No comment
    ECEL1 99.80 0 No comment
    EGR2 100.00 0 No comment
    ELOVL4 100.00 0 No comment
    EMD 98.97 0 No comment
    ENO3 100.00 0 No comment
    ENTPD1 100.00 0 No comment
    ERBB3 100.00 0 No comment
    ERBB4 100.00 0 No comment
    ERCC2 98.91 0 No comment
    ERLIN1 100.00 0 No comment
    ERLIN2 100.00 0 No comment
    ETFA 100.00 0 No comment
    ETFB 100.00 0 No comment
    ETFDH 100.00 0 No comment
    EXOSC3 100.00 0 No comment
    EXOSC8 100.00 0 No comment
    FA2H 95.71 0 No comment
    FAM111B 100.00 0 No comment
    HYCC1 100.00 0 No comment
    RETREG1 93.72 0 No comment
    FARS2 100.00 0 No comment
    FASTKD2 100.00 0 No comment
    FBLN5 100.00 0 No comment
    FBN2 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FBXO38 100.00 0 No comment
    FBXO7 99.78 0 No comment
    FDX2 100.00 0 No comment
    FGD4 99.98 0 No comment
    CFH 100.00 0 No comment
    FIG4 100.00 0 No comment
    FKRP 100.00 0 No comment
    FKTN 100.00 0 No comment
    FLAD1 100.00 0 No comment
    FLNC 100.00 0 No comment
    FLRT1 100.00 0 No comment
    FLVCR1 100.00 0 No comment
    FOXRED1 100.00 0 No comment
    FUS 100.00 0 No comment
    FXN 94.27 0 No comment
    GAA 100.00 0 No comment
    GABRA3 99.59 0 No comment
    GAD1 100.00 0 No comment
    GALC 98.98 0 No comment
    GAN 98.52 0 No comment
    GARS1 97.89 0 No comment
    GART 99.99 0 No comment
    GBA1 100.00 0 No comment
    GBA2 100.00 0 No comment
    GBE1 100.00 0 No comment
    GCH1 99.71 0 No comment
    GDAP1 100.00 0 No comment
    GFAP 100.00 0 No comment
    GFER 99.09 0 No comment
    GFPT1 99.94 0 No comment
    GGPS1 100.00 0 No comment
    GJB1 100.00 0 No comment
    GJB3 100.00 0 No comment
    GJC2 96.72 0 No comment
    GLA 100.00 0 No comment
    GLB1 100.00 0 No comment
    GLE1 100.00 0 No comment
    GLI3 100.00 0 No comment
    GLTP 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNB4 100.00 0 No comment
    GNE 100.00 0 No comment
    GOLGA2 95.41 0 No comment
    GOSR2 100.00 0 No comment
    GSN 97.80 0 No comment
    GYG1 94.40 0 No comment
    GYS1 100.00 0 No comment
    HADHA 100.00 0 No comment
    HADHB 100.00 0 No comment
    HARS1 99.73 0 No comment
    HEPACAM 99.85 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.19 0 No comment
    HINT1 100.00 0 No comment
    HK1 100.00 0 No comment
    HNRNPA1 97.19 0 No comment
    HNRNPA2B1 100.00 0 No comment
    HNRNPDL 99.98 0 No comment
    HOXD10 100.00 0 No comment
    HRAS 100.00 0 No comment
    HSD17B4 100.00 0 No comment
    HSPB1 100.00 0 No comment
    HSPB3 100.00 0 No comment
    HSPB8 100.00 0 No comment
    HSPD1 95.18 0 No comment
    HSPG2 99.19 0 No comment
    IBA57 92.01 0 No comment
    IFIH1 100.00 0 No comment
    IFRD1 98.86 0 No comment
    IGHMBP2 99.38 0 No comment
    ELP1 100.00 0 No comment
    INF2 99.92 0 No comment
    INPP5K 99.31 0 No comment
    ISCU 98.41 0 No comment
    CRPPA 95.50 0 No comment
    ITGA7 100.00 0 No comment
    KARS1 100.00 0 No comment
    KBTBD13 99.16 0 No comment
    KCNA1 100.00 0 No comment
    KCNE1 100.00 0 No comment
    KCNE2 100.00 0 No comment
    KCNE3 100.00 0 No comment
    KCNH2 98.15 0 No comment
    KCNJ12 100.00 0 No comment
    KCNJ2 100.00 0 No comment
    KCNQ1 100.00 0 No comment
    WASHC5 100.00 0 No comment
    KIF1A 98.74 0 No comment
    KIF1B 99.84 0 No comment
    KIF1C 100.00 0 No comment
    KIF21A 98.54 0 No comment
    KIF5A 100.00 0 No comment
    KLC4 99.99 0 No comment
    KLHL40 100.00 0 No comment
    KLHL41 100.00 0 No comment
    KLHL9 100.00 0 No comment
    KY 100.00 0 No comment
    L1CAM 99.98 0 No comment
    LAMA2 100.00 0 No comment
    LAMA5 98.39 0 No comment
    LAMB2 100.00 0 No comment
    LAMP2 99.60 0 No comment
    LARGE1 100.00 0 No comment
    LDB3 100.00 0 No comment
    LDHA 99.42 0 No comment
    LGI4 100.00 0 No comment
    LIMS2 91.30 0 No comment
    LITAF 100.00 0 No comment
    LMNA 99.28 0 No comment
    LMOD3 100.00 0 No comment
    LPIN1 99.97 0 No comment
    CORIN 99.01 0 No comment
    LRPPRC 98.80 0 No comment
    LRSAM1 99.33 0 No comment
    MARS1 100.00 0 No comment
    MATR3 100.00 0 No comment
    MB 100.00 0 No comment
    MED25 100.00 0 No comment
    MEGF10 99.99 0 No comment
    MFN2 100.00 0 No comment
    MLC1 98.57 0 No comment
    MAP3K20 100.00 0 No comment
    MARS2 100.00 0 No comment
    MME 100.00 0 No comment
    MORC2 100.00 0 No comment
    MPV17 100.00 0 No comment
    MPZ 99.80 0 No comment
    MSTN 100.00 0 No comment
    MTM1 99.91 0 No comment
    MTMR14 99.92 0 No comment
    MTMR2 99.55 0 No comment
    MTPAP 99.98 0 No comment
    MUSK 100.00 0 No comment
    MYBPC1 100.00 0 No comment
    MYBPC3 100.00 0 No comment
    MYH7B 99.85 0 No comment
    MYH2 100.00 0 No comment
    MYH3 100.00 0 No comment
    MYH4 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYH8 100.00 0 No comment
    MYL1 100.00 0 No comment
    MYO18B 99.80 0 No comment
    MYO9A 99.74 0 No comment
    MYOT 100.00 0 No comment
    MYPN 99.97 0 No comment
    NAGLU 96.69 0 No comment
    NDRG1 100.00 0 No comment
    NDUFA1 100.00 0 No comment
    NDUFA10 96.45 0 No comment
    NDUFA11 100.00 0 No comment
    NDUFA12 100.00 0 No comment
    NDUFA2 100.00 0 No comment
    NDUFA3 100.00 0 No comment
    NDUFA9 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFAF2 100.00 0 No comment
    NDUFAF5 99.96 0 No comment
    NDUFAF6 95.61 0 No comment
    NDUFS1 100.00 0 No comment
    NDUFS2 100.00 0 No comment
    NDUFS3 100.00 0 No comment
    NDUFS4 99.96 0 No comment
    NDUFS7 93.34 0 No comment
    NDUFS8 100.00 0 No comment
    NDUFV1 99.62 0 No comment
    NDUFV2 100.00 0 No comment
    NEB 100.00 0 No comment
    NEFH 81.41 0 No comment
    NEFL 100.00 0 No comment
    NEK1 99.98 0 No comment
    NGF 100.00 0 No comment
    NIPA1 92.99 0 No comment
    NT5C2 100.00 0 No comment
    NTRK1 98.36 0 No comment
    NUBPL 99.92 0 No comment
    MED12 99.98 0 No comment
    OPA3 100.00 0 No comment
    OPTN 100.00 0 No comment
    ORAI1 92.14 0 No comment
    P4HA1 100.00 0 No comment
    PABPN1 100.00 0 No comment
    PANK2 100.00 0 No comment
    PDHA1 92.64 0 No comment
    PDK3 97.80 0 No comment
    PDYN 100.00 0 No comment
    PET100 100.00 0 No comment
    PEX1 100.00 0 No comment
    PEX7 95.60 0 No comment
    PFKM 100.00 0 No comment
    PFN1 100.00 0 No comment
    PGAM2 99.97 0 No comment
    PGAP1 100.00 0 No comment
    PGK1 99.88 0 No comment
    PGM1 100.00 0 No comment
    PHKA1 99.99 0 No comment
    PHKB 99.97 0 No comment
    PHOX2A 96.24 0 No comment
    PHYH 99.81 0 No comment
    PIEZO2 100.00 0 No comment
    PIP5K1C 94.98 0 No comment
    PLA2G6 100.00 0 No comment
    PLEC 99.26 0 No comment
    PLEKHG5 100.00 0 No comment
    PLP1 100.00 0 No comment
    PMP2 100.00 0 No comment
    PMP22 100.00 0 No comment
    PNKP 99.84 0 No comment
    PNPLA2 98.21 0 No comment
    PNPLA6 99.95 0 No comment
    PNPLA8 100.00 0 No comment
    POGLUT1 100.00 0 No comment
    POLG 100.00 0 No comment
    POLG2 100.00 0 No comment
    POLR3A 100.00 0 No comment
    POLR3B 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMGNT2 100.00 0 No comment
    POMK 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.53 0 No comment
    PPP2R2B 100.00 0 No comment
    PRDM12 81.28 0 No comment
    PREPL 99.98 0 No comment
    PRKAG2 95.75 0 No comment
    PRNP 99.92 0 No comment
    PRPH 99.62 0 No comment
    PRPS1 99.91 0 No comment
    PRUNE1 100.00 0 No comment
    PRX 99.89 0 No comment
    PSEN1 100.00 0 No comment
    HACD1 94.60 0 No comment
    CAVIN1 100.00 0 No comment
    PTRH2 99.91 0 No comment
    PUS1 100.00 0 No comment
    PYGM 100.00 0 No comment
    PYROXD1 99.99 0 No comment
    RAB3GAP2 100.00 0 No comment
    RAB7A 100.00 0 No comment
    RAPSN 100.00 0 No comment
    RBCK1 99.76 0 No comment
    RBM7 100.00 0 No comment
    REEP1 100.00 0 No comment
    REEP2 97.04 0 No comment
    RNASEH2B 94.58 0 No comment
    RNASET2 100.00 0 No comment
    RRM2B 100.00 0 No comment
    RTN2 99.44 0 No comment
    RYR1 99.39 0 No comment
    RYR3 100.00 0 No comment
    SACS 99.95 0 No comment
    SBF1 98.38 0 No comment
    SBF2 99.92 0 No comment
    SCN10A 100.00 0 No comment
    SCN11A 99.98 0 No comment
    SCN4A 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SCN9A 99.99 0 No comment
    SCO1 100.00 0 No comment
    SCO2 93.85 0 No comment
    SELENON 84.10 0 No comment
    SEPTIN9 99.38 0 No comment
    SETX 100.00 0 No comment
    SGCA 100.00 0 No comment
    SGCB 91.50 0 No comment
    SGCD 100.00 0 No comment
    SGCE 93.30 0 No comment
    SGCG 100.00 0 No comment
    SGPL1 100.00 0 No comment
    SH3TC2 100.00 0 No comment
    SIGMAR1 92.51 0 No comment
    SIL1 99.95 0 No comment
    SLC12A6 100.00 0 No comment
    SLC16A1 100.00 0 No comment
    SLC16A2 99.97 0 No comment
    SLC18A3 100.00 0 No comment
    SLC22A5 100.00 0 No comment
    SLC25A15 100.00 0 No comment
    SLC25A20 100.00 0 No comment
    SLC25A4 99.81 0 No comment
    SLC25A42 99.60 0 No comment
    SLC25A46 100.00 0 No comment
    SLC2A1 100.00 0 No comment
    SLC33A1 100.00 0 No comment
    SLC52A2 100.00 0 No comment
    SLC52A3 99.86 0 No comment
    SLC5A7 100.00 0 No comment
    SMCHD1 100.00 0 No comment
    SMN1 100.00 0 No comment
    SNAP25 100.00 0 No comment
    SOD1 100.00 0 No comment
    SOX10 95.36 0 No comment
    SPAST 99.83 0 No comment
    SPEG 98.78 0 No comment
    SPG11 100.00 0 No comment
    SPART 100.00 0 No comment
    SPG21 100.00 0 No comment
    SPG7 95.78 0 No comment
    SPR 99.98 0 No comment
    SPTBN4 98.07 0 No comment
    SPTLC1 99.27 0 No comment
    SPTLC2 96.43 0 No comment
    SQSTM1 94.05 0 No comment
    SRPK3 98.13 0 No comment
    STAC3 100.00 0 No comment
    STIM1 100.00 0 No comment
    SUCLA2 99.86 0 No comment
    SUCLG1 93.27 0 No comment
    SUN1 100.00 0 No comment
    SURF1 100.00 0 No comment
    SYNE1 100.00 0 No comment
    SYNE2 100.00 0 No comment
    SYT2 99.96 0 No comment
    TACO1 99.66 0 No comment
    TANGO2 99.94 0 No comment
    TARDBP 100.00 0 No comment
    TARS2 100.00 0 No comment
    WWTR1 97.30 0 No comment
    TBCE 100.00 0 No comment
    TBK1 99.99 0 No comment
    TCAP 100.00 0 No comment
    TDP1 100.00 0 No comment
    TECPR2 99.92 0 No comment
    TFG 99.98 0 No comment
    TGM6 100.00 0 No comment
    TH 98.79 0 No comment
    TIA1 100.00 0 No comment
    TK2 100.00 0 No comment
    TMEM43 100.00 0 No comment
    RXYLT1 100.00 0 No comment
    TMEM65 90.50 0 No comment
    MYMK 100.00 0 No comment
    TNNI2 100.00 0 No comment
    TNNT1 94.05 0 No comment
    TNNT3 100.00 0 No comment
    TNPO3 100.00 0 No comment
    TOR1A 99.70 0 No comment
    TOR1AIP1 100.00 0 No comment
    TPI1 99.90 0 No comment
    TPM2 100.00 0 No comment
    TPM3 98.74 0 No comment
    TRAPPC11 99.97 0 No comment
    TRIM2 100.00 0 No comment
    TRIM32 100.00 0 No comment
    TRIM54 96.63 0 No comment
    TRIM63 100.00 0 No comment
    TRIP4 100.00 0 No comment
    TRMT5 100.00 0 No comment
    TRPV4 100.00 0 No comment
    TSFM 86.80 0 No comment
    TTBK2 100.00 0 No comment
    TTN 100.00 0 No comment
    TTR 100.00 0 No comment
    TUBA4A 100.00 0 No comment
    TUBB3 99.01 0 No comment
    TUBB4A 100.00 0 No comment
    TYMP 100.00 0 No comment
    UBA1 100.00 0 No comment
    UBQLN2 99.30 0 No comment
    UNC13A 99.74 0 No comment
    USP8 100.00 0 No comment
    VAMP1 100.00 0 No comment
    VAPB 99.77 0 No comment
    VARS2 100.00 0 No comment
    VCP 97.10 0 No comment
    VMA21 77.99 0 No comment
    VPS33B 100.00 0 No comment
    VPS37A 99.28 0 No comment
    VRK1 100.00 0 No comment
    WARS1 100.00 0 No comment
    WDR45 100.00 0 No comment
    WDR48 100.00 0 No comment
    WNK1 100.00 0 No comment
    XK 99.44 0 No comment
    YARS1 100.00 0 No comment
    YARS2 100.00 0 No comment
    ZC4H2 100.00 0 No comment
    ZFHX2 100.00 0 No comment
    ZFR 100.00 0 No comment
    ZFYVE26 100.00 0 No comment
    ZFYVE27 100.00 0 No comment
  • Neuromuscular disorders (166 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACADVL 0.00 0 No value for column 2
    ACTA1 0.00 0 No value for column 2
    AGRN 0.00 0 No value for column 2
    ALDOA 0.00 0 No value for column 2
    ALG14 0.00 0 No value for column 2
    ALG2 99.94 0 No comment
    ALS2 100.00 0 No comment
    ANG 100.00 0 No comment
    ANO5 100.00 0 No comment
    ASAH1 99.94 0 No comment
    ATP7A 100.00 0 No comment
    ATXN2 89.10 0 No comment
    B3GALNT2 85.88 0 No comment
    B4GAT1 100.00 0 No comment
    BAG3 100.00 0 No comment
    BICD2 100.00 0 No comment
    BIN1 100.00 0 No comment
    BSCL2 100.00 0 No comment
    C9ORF72 100.00 0 No comment
    CAV3 100.00 0 No comment
    CFL2 99.75 0 No comment
    CHAT 100.00 0 No comment
    CHKB 99.69 0 No comment
    CHRNA1 100.00 0 No comment
    CHRNB1 100.00 0 No comment
    CHRND 100.00 0 No comment
    CHRNE 100.00 0 No comment
    CHRNG 100.00 0 No comment
    COL6A1 100.00 0 No comment
    COL6A2 100.00 0 No comment
    COL6A3 100.00 0 No comment
    COLQ 100.00 0 No comment
    CPT2 98.71 0 No comment
    CRPPA 95.75 0 No comment
    CRYAB 100.00 0 No comment
    DAG1 100.00 0 No comment
    DAO 100.00 0 No comment
    DCTN1 100.00 0 No comment
    DES 100.00 0 No comment
    DGUOK 100.00 0 No comment
    DMD 100.00 0 No comment
    DNAJB2 100.00 0 No comment
    DNAJB6 99.34 0 No comment
    DNM2 99.95 0 No comment
    DOK7 98.77 0 No comment
    DOLK 100.00 0 No comment
    DPAGT1 100.00 0 No comment
    DPM1 100.00 0 No comment
    DPM2 100.00 0 No comment
    DPM3 100.00 0 No comment
    DYNC1H1 100.00 0 No comment
    DYSF 100.00 0 No comment
    ECEL1 95.92 0 No comment
    EMD 99.84 0 No comment
    ENO3 100.00 0 No comment
    ETFA 100.00 0 No comment
    ETFB 100.00 0 No comment
    ETFDH 100.00 0 No comment
    EXOSC3 100.00 0 No comment
    FBLN5 100.00 0 No comment
    FBXO38 100.00 0 No comment
    FDX2 100.00 0 No comment
    CFH 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNC 100.00 0 No comment
    FUS 100.00 0 No comment
    GAA 100.00 0 No comment
    GARS1 99.53 0 No comment
    GFPT1 99.98 0 No comment
    GLE1 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNE 100.00 0 No comment
    GRN 100.00 0 No comment
    HADHA 100.00 0 No comment
    HADHB 100.00 0 No comment
    HARS1 100.00 0 No comment
    HEXB 99.82 0 No comment
    HNRNPA1 99.61 0 No comment
    HNRNPA2B1 100.00 0 No comment
    HSPB1 100.00 0 No comment
    HSPB3 100.00 0 No comment
    HSPB8 100.00 0 No comment
    IGHMBP2 100.00 0 No comment
    ISCU 99.39 0 No comment
    KBTBD13 97.91 0 No comment
    KLHL40 100.00 0 No comment
    KLHL9 100.00 0 No comment
    LAMA2 100.00 0 No comment
    LAMB2 100.00 0 No comment
    LARGE1 100.00 0 No comment
    LAS1L 100.00 0 No comment
    LDB3 100.00 0 No comment
    LMNA 99.93 0 No comment
    LPIN1 100.00 0 No comment
    CORIN 98.90 0 No comment
    MATR3 100.00 0 No comment
    MEGF10 100.00 0 No comment
    MTM1 100.00 0 No comment
    MUSK 100.00 0 No comment
    MYBPC3 100.00 0 No comment
    MYH7B 100.00 0 No comment
    MYH3 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYH8 100.00 0 No comment
    MYOT 100.00 0 No comment
    NEB 99.99 0 No comment
    NEFH 84.73 0 No comment
    OPTN 100.00 0 No comment
    PABPN1 91.84 0 No comment
    PFKM 100.00 0 No comment
    PFN1 100.00 0 No comment
    PGAM2 100.00 0 No comment
    PGK1 100.00 0 No comment
    PGM1 100.00 0 No comment
    PHKA1 100.00 0 No comment
    PHKB 100.00 0 No comment
    PLEC 99.82 0 No comment
    PLEKHG5 99.10 0 No comment
    POLG 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMGNT2 100.00 0 No comment
    POMK 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.90 0 No comment
    PREPL 100.00 0 No comment
    PYGM 100.00 0 No comment
    QDPR 99.04 0 No comment
    RAPSN 100.00 0 No comment
    REEP1 97.37 0 No comment
    RXYLT1 99.84 0 No comment
    RYR1 98.38 0 No comment
    SCN4A 100.00 0 No comment
    SELENON 84.04 0 No comment
    SETX 100.00 0 No comment
    SIGMAR1 96.60 0 No comment
    SIL1 100.00 0 No comment
    SLC18A3 100.00 0 No comment
    SLC52A2 100.00 0 No comment
    SLC52A3 100.00 0 No comment
    SLC5A7 100.00 0 No comment
    SMN1 96.55 0 No comment
    SNAP25 100.00 0 No comment
    SOD1 100.00 0 No comment
    SQSTM1 93.68 0 No comment
    SYT2 100.00 0 No comment
    TAF15 100.00 0 No comment
    TARDBP 100.00 0 No comment
    TFG 100.00 0 No comment
    TIA1 100.00 0 No comment
    TNNI2 100.00 0 No comment
    TNNT1 98.58 0 No comment
    TNNT3 100.00 0 No comment
    TNPO3 100.00 0 No comment
    TPM2 100.00 0 No comment
    TPM3 99.55 0 No comment
    TRPV4 100.00 0 No comment
    TSEN54 94.23 0 No comment
    TTN 100.00 0 No comment
    UBA1 100.00 0 No comment
    UBQLN2 99.88 0 No comment
    UNC13A 99.87 0 No comment
    VAPB 100.00 0 No comment
    VCP 98.45 0 No comment
    VEGFA 98.73 0 No comment
    VRK1 100.00 0 No comment
  • Neuromuscular disorders (232 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    NEB 88.70 0 NM_001271208.1
    SELENON 92.30 0 NM_020451.2
    TSEN54 97.70 0 NM_207346.2
    DOK7 97.90 0 NM_173660.4
    ORAI1 97.90 0 NM_032790.3
    CRPPA 98.60 0 NM_001101426.3
    PGAM2 98.80 0 NM_000290.3
    AGRN 99.00 0 NM_198576.3
    HSPB1 99.00 0 NM_001540.4
    POMT2 99.00 0 NM_013382.5
    CACNA1H 99.10 0 NM_021098.2
    RYR1 99.10 0 NM_000540.2
    SPTBN4 99.30 0 NM_020971.2
    TNNT1 99.50 0 NM_003283.5
    HSPG2 99.50 0 NM_005529.6
    CAPN3 99.60 0 NM_000070.2
    GMPPB 99.60 0 NM_013334.3
    ACADVL 99.60 0 NM_000018.3
    LAMA5 99.60 0 NM_005560.4
    B3GALNT2 99.70 0 NM_152490.4
    SCN4A 99.70 0 NM_000334.4
    ISCU 99.70 0 NM_213595.3
    MATR3 99.70 0 NM_199189.2
    SLC16A1 99.80 0 NM_003051.3
    COL6A1 99.80 0 NM_001848.2
    CHD8 99.80 0 NM_001170629.1
    RAPSN 99.80 0 NM_005055.4
    CACNA1A 99.80 0 NM_001127221.1
    MYH7B 99.80 0 NM_024729.3
    DCST2 99.80 0 NM_144622.2
    CHRNE 99.80 0 NM_000080.3
    SGCG 99.90 0 NM_000231.2
    DYSF 99.90 0 NM_003494.3
    MYL2 99.90 0 NM_000432.3
    CHRNA1 99.90 0 NM_000079.3
    ECEL1 99.90 0 NM_004826.3
    PNPLA2 99.90 0 NM_020376.3
    FXR1 99.90 0 NM_005087.3
    TTN 99.90 0 NM_133378.4
    PNPLA8 99.90 0 NM_015723.4
    ATP2A1 99.90 0 NM_173201.3
    COL6A2 99.90 0 NM_001849.3
    MYBPC3 99.90 0 NM_000256.3
    VCP 99.90 0 NM_007126.4
    TRDN 99.90 0 NM_006073.3
    GYS1 99.90 0 NM_002103.4
    ALG13 99.90 0 NM_001099922.2
    MYO18B 99.90 0 NM_032608.6
    TK2 99.90 0 NM_004614.4
    PHKB 99.90 0 NM_000293.2
    SYT2 99.90 0 NM_177402.4
    LDHA 99.90 0 NM_005566.3
    LMNA 99.90 0 NM_170707.3
    CFL2 99.90 0 NM_021914.7
    TIA1 100.00 0 NM_022173.3
    MYF6 100.00 0 NM_002469.2
    KCNJ18 100.00 0 NM_001194958.2
    DPM1 100.00 0 NM_003859.2
    HNRNPDL 100.00 0 NM_031372.3
    TPM2 100.00 0 NM_003289.3
    CACNA1S 100.00 0 NM_000069.2
    FLNC 100.00 0 NM_001458.4
    CHRNB1 100.00 0 NM_000747.2
    CCDC78 100.00 0 NM_001031737.2
    ETFA 100.00 0 NM_000126.3
    DNAJB6 100.00 0 NM_058246.3
    DMPK 100.00 0 NM_001081563.2
    CORIN 100.00 0 NM_002334.3
    HACD1 100.00 0 NM_014241.3
    EMD 100.00 0 NM_000117.2
    TRIP4 100.00 0 NM_016213.4
    MYL1 100.00 0 NM_079420.2
    ETFDH 100.00 0 NM_004453.3
    FKRP 100.00 0 NM_024301.4
    DNA2 100.00 0 NM_001080449.2
    PLEC 100.00 0 NM_000445.4
    PABPN1 100.00 0 NM_004643.3
    SPEG 100.00 0 NM_005876.4
    ITGA7 100.00 0 NM_002206.2
    POMT1 100.00 0 NM_007171.3
    GFPT1 100.00 0 NM_002056.3
    SYNE1 100.00 0 NM_033071.3
    LPIN1 100.00 0 NM_145693.3
    ENO3 100.00 0 NM_053013.3
    GOLGA2 100.00 0 NM_004486.4
    CHKB 100.00 0 NM_005198.4
    AMPD1 100.00 0 NM_000036.2
    ACTA1 100.00 0 NM_001100.3
    ACVR1 100.00 0 NM_001105.4
    HADHB 100.00 0 NM_000183.2
    KCNA1 100.00 0 NM_000217.2
    ANO5 100.00 0 NM_213599.2
    INPP5K 100.00 0 NM_016532.3
    SMCHD1 100.00 0 NM_015295.2
    ADSS1 100.00 0 NM_199165.2
    TRIM63 100.00 0 NM_032588.3
    COL13A1 100.00 0 NM_001130103.1
    TOP3A 100.00 0 NM_004618.4
    COL12A1 100.00 0 NM_004370.5
    MYPN 100.00 0 NM_032578.3
    SYNE2 100.00 0 NM_182914.2
    ACTN2 100.00 0 NM_001103.3
    PREPL 100.00 0 NM_006036.4
    MYH3 100.00 0 NM_002470.3
    SGCB 100.00 0 NM_000232.4
    PHKA1 100.00 0 NM_002637.3
    CLCN1 100.00 0 NM_000083.2
    KBTBD13 100.00 0 NM_001101362.2
    CHAT 100.00 0 NM_020549.4
    AGL 100.00 0 NM_000642.2
    MUSK 100.00 0 NM_005592.3
    CASQ1 100.00 0 NM_001231.4
    ACADS 100.00 0 NM_000017.3
    PYGM 100.00 0 NM_005609.3
    GAA 100.00 0 NM_000152.4
    TRAPPC11 100.00 0 NM_021942.5
    MYO9A 100.00 0 NM_006901.3
    COL6A3 100.00 0 NM_004369.3
    DMD 100.00 0 NM_004006.2
    MYH7 100.00 0 NM_000257.3
    MYBPC1 100.00 0 NM_002465.3
    RYR3 100.00 0 NM_001036.4
    ABHD5 100.00 0 NM_016006.5
    ACAD9 100.00 0 NM_014049.4
    ACADL 100.00 0 NM_001608.3
    ACADM 100.00 0 NM_000016.5
    ALDOA 100.00 0 NM_000034.3
    ALG14 100.00 0 NM_144988.3
    ALG2 100.00 0 NM_033087.3
    ATP1A2 100.00 0 NM_000702.3
    B4GAT1 100.00 0 NM_006876.2
    BAG3 100.00 0 NM_004281.3
    BIN1 100.00 0 NM_139343.2
    BVES 100.00 0 NM_007073.4
    CAV3 100.00 0 NM_033337.2
    CAVIN1 100.00 0 NM_012232.5
    CHRND 100.00 0 NM_000751.2
    CHRNG 100.00 0 NM_005199.4
    CNTN1 100.00 0 NM_001843.3
    COLQ 100.00 0 NM_005677.3
    CPT2 100.00 0 NM_000098.2
    CRYAB 100.00 0 NM_001885.2
    DAG1 100.00 0 NM_004393.5
    DES 100.00 0 NM_001927.3
    DNM2 100.00 0 NM_001005360.2
    DOLK 100.00 0 NM_014908.3
    DPAGT1 100.00 0 NM_001382.3
    DPM2 100.00 0 NM_003863.3
    DPM3 100.00 0 NM_153741.1
    ETFB 100.00 0 NM_001985.2
    EXOSC3 100.00 0 NM_016042.3
    CFH 100.00 0 NM_001449.4
    FKBP14 100.00 0 NM_017946.3
    FKTN 100.00 0 NM_001079802.1
    FLAD1 100.00 0 NM_025207.4
    GBE1 100.00 0 NM_000158.3
    GGPS1 100.00 0 NM_001037277.1
    GNE 100.00 0 NM_001128227.2
    GYG1 100.00 0 NM_004130.3
    HADH 100.00 0 NM_005327.4
    HADHA 100.00 0 NM_000182.4
    HINT1 100.00 0 NM_005340.6
    HNRNPA1 100.00 0 NM_031157.3
    HNRNPA2B1 100.00 0 NM_031243.2
    HRAS 100.00 0 NM_005343.3
    HSPB8 100.00 0 NM_014365.2
    KCNE3 100.00 0 NM_005472.4
    KCNJ2 100.00 0 NM_000891.2
    KLHL40 100.00 0 NM_152393.3
    KLHL41 100.00 0 NM_006063.2
    KLHL9 100.00 0 NM_018847.3
    KY 100.00 0 NM_178554.5
    LAMA2 100.00 0 NM_000426.3
    LAMB2 100.00 0 NM_002292.3
    LAMP2 100.00 0 NM_002294.2
    LARGE1 100.00 0 NM_004737.6
    LDB3 100.00 0 NM_001080116.1
    LIMS2 100.00 0 NM_001136037.2
    LMOD3 100.00 0 NM_198271.4
    MAP3K20 100.00 0 NM_016653.2
    MB 100.00 0 NM_005368.2
    MEGF10 100.00 0 NM_032446.2
    MSTN 100.00 0 NM_005259.2
    MTM1 100.00 0 NM_000252.2
    MTMR14 100.00 0 NM_022485.4
    MYH2 100.00 0 NM_017534.5
    MYH8 100.00 0 NM_002472.2
    MYMK 100.00 0 NM_001080483.2
    MYOT 100.00 0 NM_006790.2
    MED12 100.00 0 NM_015560.2
    P4HA1 100.00 0 NM_001017962.2
    PAX7 100.00 0 NM_002584.2
    PDHA1 100.00 0 NM_000284.3
    PFKM 100.00 0 NM_000289.5
    PGK1 100.00 0 NM_000291.3
    PGM1 100.00 0 NM_002633.2
    POGLUT1 100.00 0 NM_152305.2
    POLG 100.00 0 NM_002693.2
    POLG2 100.00 0 NM_007215.3
    POMGNT1 100.00 0 NM_017739.3
    POMGNT2 100.00 0 NM_032806.5
    POMK 100.00 0 NM_032237.4
    POPDC3 100.00 0 NM_022361.4
    PRKAG2 100.00 0 NM_016203.3
    PYROXD1 100.00 0 NM_024854.4
    RBCK1 100.00 0 NM_031229.3
    RXYLT1 100.00 0 NM_014254.2
    SBDS 100.00 0 NM_016038.3
    SGCA 100.00 0 NM_000023.3
    SGCD 100.00 0 NM_000337.5
    SIL1 100.00 0 NM_022464.4
    SLC18A3 100.00 0 NM_003055.2
    SLC22A5 100.00 0 NM_003060.3
    SLC25A20 100.00 0 NM_000387.5
    SLC5A7 100.00 0 NM_021815.4
    SNAP25 100.00 0 NM_130811.3
    SQSTM1 100.00 0 NM_003900.4
    STAC3 100.00 0 NM_145064.2
    STIM1 100.00 0 NM_003156.3
    WWTR1 100.00 0 NM_000116.4
    TCAP 100.00 0 NM_003673.3
    TMEM126B 100.00 0 NM_018480.5
    TMEM43 100.00 0 NM_024334.2
    TNNI2 100.00 0 NM_003282.3
    TNNT3 100.00 0 NM_006757.3
    TNPO3 100.00 0 NM_012470.3
    TOR1AIP1 100.00 0 NM_001267578.1
    TPM3 100.00 0 NM_152263.3
    TRIM32 100.00 0 NM_012210.3
    UNC45B 100.00 0 NM_173167.3
    VAMP1 100.00 0 NM_014231.4
    VMA21 100.00 0 NM_001017980.3
  • 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 (148 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ABHD12 100.00 1 NM_001042472.3
    AIFM1 100.00 1 NM_004208.4
    APTX 100.00 1 NM_001195248.2
    ARHGEF10 100.00 1 NM_014629.4
    ATL1 100.00 1 NM_015915.5
    ATP1A1 100.00 1 NM_000701.8
    ATP7A 100.00 1 NM_000052.7
    BICD2 100.00 1 NM_001003800.2
    BSCL2 100.00 1 NM_001122955.3
    MTRFR 100.00 1 NM_152269.5
    COX6A1 100.00 1 NM_004373.4
    CTDP1 100.00 1 NM_004715.5
    DCTN1 100.00 1 NM_004082.4
    DHTKD1 100.00 1 NM_018706.7
    DNAJB2 100.00 1 NM_006736.6
    DNM2 100.00 1 NM_001005361.3
    DNMT1 99.93 1 NM_001130823.3
    DST 100.00 1 NM_001144770.2
    DYNC1H1 100.00 1 NM_001376.5
    EGR2 100.00 1 NM_000399.5
    ELP1 100.00 1 NM_003640.5
    FBLN5 100.00 1 NM_006329.3
    FBXO38 100.00 1 NM_205836.3
    FGD4 100.00 1 NM_001304480.1
    FIG4 100.00 1 NM_014845.6
    GAN 100.00 1 NM_022041.3
    GARS1 100.00 1 NM_002047.4
    GDAP1 100.00 1 NM_018972.4
    GJB1 100.00 1 NM_000166.6
    GJB3 100.00 1 NM_024009.3
    GNB4 100.00 1 NM_021629.4
    HARS1 100.00 1 NM_002109.6
    HINT1 100.00 1 NM_005340.7
    HK1 100.00 1 NM_001358263.1
    HOXD10 100.00 1 NM_002148.4
    HSPB1 100.00 1 NM_001540.5
    HSPB3 100.00 1 NM_006308.3
    HSPB8 100.00 1 NM_014365.3
    IFRD1 100.00 1 NM_001007245.2
    IGHMBP2 100.00 1 NM_002180.3
    INF2 99.00 1 NM_022489.4
    KARS1 100.00 1 NM_001130089.1
    KIF1A 100.00 1 NM_001244008.1
    KIF1B 100.00 1 NM_015074.3
    KIF5A 100.00 1 NM_004984.4
    LITAF 100.00 1 NM_001136472.1
    LMNA 100.00 1 NM_170707.4
    LRSAM1 100.00 1 NM_001005373.3
    MARS1 100.00 1 NM_004990.4
    MED25 100.00 1 NM_030973.3
    MFN2 100.00 1 NM_014874.4
    MME 100.00 1 NM_007289.4
    MORC2 100.00 1 NM_001303256.3
    MPZ 100.00 1 NM_000530.8
    MTMR2 100.00 1 NM_016156.6
    MYH14 100.00 1 NM_001145809.2
    NAGLU 100.00 1 NM_000263.4
    NDRG1 100.00 1 NM_006096.4
    NEFH 100.00 1 NM_021076.4
    NEFL 100.00 1 NM_006158.5
    NGF 100.00 1 NM_002506.3
    NTRK1 100.00 1 NM_002529.3
    PDK3 100.00 1 NM_001142386.3
    PEX1 100.00 1 NM_000466.3
    PEX7 100.00 1 NM_000288.4
    PHYH 100.00 1 NM_006214.4
    PLEKHG5 100.00 1 NM_001265592.1
    PMP22 100.00 1 NM_000304.4
    POLG 100.00 1 NM_001126131.2
    PRDM12 98.36 1 NM_021619.3
    PRPS1 100.00 1 NM_002764.4
    PRX 100.00 1 NM_181882.3
    RAB7A 100.00 1 NM_004637.6
    REEP1 100.00 1 NM_001371279.1
    RETREG1 100.00 1 NM_001034850.2
    SBF1 100.00 1 NM_002972.4
    SBF2 100.00 1 NM_030962.3
    SCN11A 100.00 1 NM_001349253.2
    SCN9A 100.00 1 NM_001365536.1
    SCO2 100.00 1 NM_005138.3
    SETX 100.00 1 NM_015046.7
    SH3TC2 100.00 1 NM_024577.4
    SLC12A6 100.00 1 NM_001365088.1
    SLC5A7 100.00 1 NM_021815.5
    SOX10 100.00 1 NM_006941.4
    SPG11 100.00 1 NM_025137.4
    SPTLC1 100.00 1 NM_006415.4
    SPTLC2 100.00 1 NM_004863.3
    TDP1 100.00 1 NM_018319.4
    TECPR2 100.00 1 NM_014844.5
    TFG 100.00 1 NM_006070.6
    TRIM2 100.00 1 NM_015271.5
    TRPV4 100.00 1 NM_021625.5
    TTR 100.00 1 NM_000371.4
    TUBB3 100.00 1 NM_006086.4
    TYMP 100.00 1 NM_001257989.1
    VCP 100.00 1 NM_007126.5
    WNK1 100.00 1 NM_018979.4
    YARS1 100.00 1 NM_003680.3
    AAAS 100.00 1 NM_015665.6
    ALS2 100.00 1 NM_020919.4
    ANG 100.00 1 NM_001145.4
    ANXA11 100.00 1 NM_145868.2
    ATL3 100.00 1 NM_015459.5
    CNTNAP1 100.00 1 NM_003632.3
    COA8 100.00 1 NM_001370595.1
    COL4A1 100.00 1 NM_001845.6
    DCAF8 100.00 1 NM_015726.4
    DCX 100.00 1 NM_001195553.2
    ERBB4 100.00 1 NM_005235.3
    FUS 100.00 1 NM_004960.4
    GBF1 100.00 1 NM_004193.3
    GCH1 100.00 1 NM_000161.3
    GLA 100.00 1 NM_000169.3
    HTRA1 100.00 1 NM_002775.5
    KLC2 100.00 1 NM_001134775.1
    MATR3 100.00 1 NM_018834.6
    MCM3AP 100.00 1 NM_003906.5
    MPV17 100.00 1 NM_002437.5
    NEK1 100.00 1 NM_001199397.3
    NFASC 100.00 1 NM_001005388.2
    OPTN 100.00 1 NM_001008212.2
    PDXK 100.00 1 NM_003681.5
    PFN1 100.00 1 NM_005022.4
    PMP2 100.00 1 NM_002677.5
    PNKP 100.00 1 NM_007254.4
    PRPH 100.00 1 NM_006262.4
    PTRH2 100.00 1 NM_016077.5
    SCN10A 100.00 1 NM_006514.3
    SEPTIN9 100.00 1 NM_001113491.2
    SGPL1 100.00 1 NM_003901.4
    SIGMAR1 100.00 1 NM_005866.4
    SLC25A46 100.00 1 NM_138773.4
    SMN1 6.96 1 NM_000344.3
    SOD1 100.00 1 NM_000454.5
    SORD 94.98 1 NM_003104.6
    SQSTM1 100.00 1 NM_003900.5
    SURF1 100.00 1 NM_003172.4
    SYT2 100.00 1 NM_177402.5
    TARDBP 100.00 1 NM_007375.4
    TIA1 100.00 1 NM_022173.4
    TRPA1 100.00 1 NM_007332.3
    TUBA1A 100.00 1 NM_006009.4
    TUBA4A 100.00 1 NM_006000.3
    UBQLN2 100.00 1 NM_013444.3
    VAPB 100.00 1 NM_004738.5
    WARS1 100.00 1 NM_004184.4
  • Neuropathy (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 99.94 1
    ABCA1 99.92 1
    ABHD12 99.11 1
    ADPRS 100.00 1
    AGTPBP1 99.40 1
    AIFM1 99.43 1
    ARHGEF10 100.00 1
    ARSA 100.00 1
    ATL1 99.95 1
    ATL3 99.86 1
    ATM 99.83 1
    ATP1A1 99.94 1
    ATP7A 99.35 1
    B4GALNT1 99.95 1
    BAG3 100.00 1
    BICD2 100.00 1
    BSCL2 100.00 1
    CADM3 99.94 1
    CD59 99.97 1
    CFAP276 99.73 1
    CHCHD10 97.06 1
    CLTCL1 99.98 1
    CNTNAP1 99.80 1
    COA7 100.00 1
    COX20 99.40 1
    COX6A1 99.99 1
    CTDP1 98.02 1
    CTNNB1 99.98 1
    CYP27A1 99.96 1
    DARS2 99.86 1
    DCAF8 99.98 1
    DCTN1 99.95 1
    DGAT2 99.99 1
    DGUOK 99.76 1
    DHTKD1 99.88 1
    DNAJB2 100.00 1
    DNAJC3 99.58 1
    DNM2 99.96 1
    DNMT1 99.88 1
    DRP2 99.45 1
    DST 99.92 1
    DYNC1H1 99.97 1
    EGR2 100.00 1
    ELP1 99.96 1
    ETFDH 99.76 1
    FBLN5 92.79 1
    FBXO38 99.93 1
    FGD4 99.89 1
    FIG4 99.94 1
    FLVCR1 99.93 1
    FXN 97.92 1
    GALC 99.88 1
    GAN 99.84 1
    GARS1 99.86 1
    GBA2 99.97 1
    GBE1 99.84 1
    GBF1 99.95 1
    GDAP1 99.93 1
    GJB1 99.99 1
    GJB3 100.00 1
    GJC2 96.12 1
    GLA 99.64 1
    GNB4 99.95 1
    GSN 97.83 1
    HADHA 99.96 1
    HADHB 99.97 1
    HARS1 99.99 1
    HINT1 99.96 1
    HK1 96.86 1
    HNRNPA1 100.00 1
    HOXD10 100.00 1
    HSPB1 99.83 1
    HSPB3 100.00 1
    HSPB8 99.90 1
    IARS2 99.96 1
    IFRD1 99.96 1
    IGHMBP2 99.99 1
    INF2 97.15 1
    ITPR3 99.88 1
    JAG1 99.92 1
    KIF1A 99.96 1
    KIF5A 99.93 1
    LITAF 100.00 1
    LMNA 99.98 1
    LRSAM1 99.97 1
    LYST 99.92 1
    MCM3AP 99.96 1
    MFN2 99.96 1
    MMACHC 99.99 1
    MME 97.69 1
    MORC2 99.98 1
    MPV17 100.00 1
    MPZ 99.97 1
    MTMR2 99.98 1
    MTRFR 99.85 1
    MYH14 99.79 1
    NAGA 99.99 1
    NAGLU 98.00 1
    NARS1 99.74 1
    NDRG1 100.00 1
    NEFH 98.77 1
    NEFL 99.99 1
    NGF 99.99 1
    NTRK1 99.67 1
    PCYT2 97.60 1
    PDK3 98.86 1
    PEX7 99.87 1
    PHYH 99.65 1
    PIEZO2 99.88 1
    PLD3 99.99 1
    PLEKHG5 99.66 1
    PLP1 99.93 1
    PMM2 99.94 1
    PMP2 99.95 1
    PMP22 100.00 1
    PNKP 100.00 1
    PNPLA6 99.88 1
    POLG 99.98 1
    POLR3B 99.88 1
    PPOX 99.94 1
    PRDM12 99.60 1
    PRKCG 99.90 1
    PRNP 100.00 1
    PRPS1 99.79 1
    PRX 99.94 1
    PTEN 99.15 1
    PTPN11 99.91 1
    PTRH2 99.97 1
    RAB7A 99.94 1
    REEP1 99.99 1
    RETREG1 99.92 1
    RFC1 99.44 1
    SACS 99.98 1
    SBF1 99.97 1
    SBF2 99.92 1
    SCARB2 99.94 1
    SCN10A 99.97 1
    SCN11A 99.77 1
    SCN9A 99.96 1
    SCO2 100.00 1
    SCYL1 99.64 1
    SEPTIN9 99.94 1
    SETX 99.96 1
    SH3TC2 99.98 1
    SIGMAR1 99.99 1
    SLC12A6 99.88 1
    SLC25A19 99.99 1
    SLC25A46 99.93 1
    SLC52A2 100.00 1
    SLC52A3 100.00 1
    SLC5A7 99.97 1
    SORD 92.86 1
    SOX10 100.00 1
    SPAST 99.83 1
    SPG11 99.94 1
    SPG7 99.99 1
    SPTAN1 99.97 1
    SPTBN4 99.19 1
    SPTLC1 99.98 1
    SPTLC2 99.94 1
    SPTLC3 99.94 1
    SURF1 97.64 1
    SYT2 99.89 1
    TBCE 99.69 1
    TBCK 99.76 1
    TECPR2 99.90 1
    TFG 99.34 1
    TRIM2 99.99 1
    TRPV4 99.96 1
    TTPA 99.97 1
    TTR 100.00 1
    TUBB3 100.00 1
    TWNK 100.00 1
    UCHL1 99.99 1
    VAPB 99.94 1
    VCP 99.92 1
    VPS13A 99.60 1
    VRK1 99.94 1
    VWA1 91.35 1
    WARS1 99.79 1
    WNK1 99.94 1
    XRCC1 99.94 1
    YARS1 99.96 1
    ZFHX2 99.98 1
    ZFYVE26 99.96 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
  • Skeletal dysplasia (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALPL 100.00 1
    ALX3 100.00 1
    ARID1A 99.99 1
    B3GALT6 92.42 1
    CDC73 99.98 1
    COL11A1 99.99 1
    COL9A2 100.00 1
    CTSK 100.00 1
    DDR2 100.00 1
    DHCR24 100.00 1
    DVL1 100.00 1
    FAM20B 100.00 1
    FUCA1 100.00 1
    GNAI3 99.99 1
    GNPAT 99.96 1
    GORAB 99.99 1
    HHAT 100.00 1
    HS2ST1 99.93 1
    HSPG2 99.99 1
    IARS2 100.00 1
    LBR 99.99 1
    LMNA 100.00 1
    NLRP3 100.00 1
    NMNAT1 95.03 1
    NOTCH2 100.00 1
    NRAS 99.97 1
    ORC1 100.00 1
    P3H1 100.00 1
    PHGDH 100.00 1
    PIGV 100.00 1
    PLOD1 100.00 1
    POLR3GL 100.00 1
    PRKACB 100.00 1
    PRRX1 100.00 1
    RBM8A 100.00 1
    SDCCAG8 99.99 1
    SF3B4 100.00 1
    SKI 100.00 1
    SLC25A24 99.30 1
    SLC35D1 99.68 1
    TBCE 100.00 1
    TBX15 100.00 1
    TGFB2 100.00 1
    TMCO1 99.91 1
    TMEM53 100.00 1
    ZMPSTE24 99.99 1
    CHST3 100.00 1
    DNA2 99.99 1
    FBXW4 98.98 1
    FGFR2 100.00 1
    KAT6B 100.00 1
    KIF5B 99.93 1
    PAPSS2 99.93 1
    POLR3A 100.00 1
    SLC29A3 100.00 1
    SMC3 99.98 1
    TCTN3 100.00 1
    ALG9 94.06 1
    ALX4 100.00 1
    ANO5 100.00 1
    ARCN1 100.00 1
    B3GAT3 94.88 1
    BANF1 100.00 1
    BBS1 100.00 1
    C2CD3 99.99 1
    CDKN1C 100.00 1
    CREB3L1 100.00 1
    CYP2R1 98.84 1
    DPAGT1 100.00 1
    DYNC2H1 99.84 1
    EED 100.00 1
    EXT2 100.00 1
    FAM111A 100.00 1
    FAR1 99.98 1
    FERMT3 100.00 1
    HRAS 100.00 1
    IFITM5 100.00 1
    INPPL1 99.93 1
    LRP4 100.00 1
    LRP5 100.00 1
    LTBP3 100.00 1
    MMP13 99.99 1
    NADSYN1 100.00 1
    PIK3C2A 99.99 1
    PLCB3 100.00 1
    RASGRP2 100.00 1
    SERPINH1 100.00 1
    SLC39A13 100.00 1
    TCIRG1 100.00 1
    TMEM138 100.00 1
    TMEM216 100.00 1
    ABCC9 99.99 1
    ALX1 100.00 1
    ATP6V0A2 100.00 1
    BBS10 100.00 1
    CEP290 99.84 1
    CHST11 100.00 1
    COL2A1 100.00 1
    CYP27B1 100.00 1
    FGF23 100.00 1
    GDF3 100.00 1
    GNPTAB 100.00 1
    GNS 100.00 1
    IFT81 94.63 1
    LEMD3 100.00 1
    MAPKAPK5 100.00 1
    MGP 100.00 1
    PDE3A 100.00 1
    PEX5 100.00 1
    POLE 100.00 1
    POLR3B 99.98 1
    PTHLH 100.00 1
    PTPN11 99.98 1
    RFLNA 99.50 1
    SP7 100.00 1
    TBX3 100.00 1
    TBX5 100.00 1
    TCTN1 94.52 1
    TCTN2 99.95 1
    TRPV4 100.00 1
    VDR 99.44 1
    VPS33A 95.74 1
    WNT1 100.00 1
    WNT10B 100.00 1
    FGF9 99.98 1
    GPC6 100.00 1
    KL 98.69 1
    POLR1D 99.94 1
    TGDS 99.99 1
    TNFSF11 100.00 1
    AKT1 100.00 1
    GNPNAT1 99.99 1
    GSC 100.00 1
    IFT43 100.00 1
    KIAA0586 95.70 1
    LTBP2 100.00 1
    MMP14 100.00 1
    SEC23A 99.98 1
    SIX1 100.00 1
    SMOC1 100.00 1
    SRP54 99.97 1
    TGFB3 100.00 1
    LYSET 100.00 1
    TRIP11 99.98 1
    TTC8 99.96 1
    ACAN 98.67 1
    ADAMTS17 98.97 1
    BBS4 100.00 1
    CEP152 99.99 1
    CHST14 99.49 1
    CHSY1 99.98 1
    DLL4 100.00 1
    EFL1 100.00 1
    FBN1 100.00 1
    FMN1 100.00 1
    GREM1 100.00 1
    IDH2 99.93 1
    KIF7 99.98 1
    LRRK1 100.00 1
    MAP2K1 100.00 1
    MESD 100.00 1
    MESP2 100.00 1
    PPIB 100.00 1
    SMAD3 100.00 1
    SMAD6 100.00 1
    TCF12 100.00 1
    ANKRD11 100.00 1
    BBS2 100.00 1
    CBFB 100.00 1
    CDH3 100.00 1
    CDK10 100.00 1
    CDT1 99.07 1
    CLCN7 99.78 1
    COG4 100.00 1
    CREBBP 100.00 1
    DHODH 100.00 1
    GALNS 100.00 1
    GINS2 100.00 1
    GNPTG 99.45 1
    IFT140 100.00 1
    KIF22 100.00 1
    MBTPS1 100.00 1
    MMP2 100.00 1
    ORC6 99.99 1
    PAM16 100.00 1
    PRMT7 99.99 1
    RPGRIP1L 98.82 1
    RPL13 100.00 1
    RSPRY1 100.00 1
    SALL1 100.00 1
    TBC1D24 100.00 1
    TBX6 100.00 1
    TMEM231 100.00 1
    TRAF7 100.00 1
    VAC14 100.00 1
    XYLT1 98.81 1
    ACTG1 100.00 1
    BHLHA9 99.55 1
    CANT1 99.97 1
    CDC6 100.00 1
    COG1 100.00 1
    COL1A1 100.00 1
    DLX3 100.00 1
    EFTUD2 100.00 1
    EIF4A3 99.99 1
    FKBP10 100.00 1
    FZD2 100.00 1
    HES7 100.00 1
    KCNJ2 100.00 1
    KIAA0753 100.00 1
    MEOX1 100.00 1
    MKS1 100.00 1
    MYH3 100.00 1
    NAGLU 99.96 1
    NF1 99.98 1
    NOG 100.00 1
    NXN 100.00 1
    P4HB 100.00 1
    PLEKHM1 100.00 1
    PRKAR1A 100.00 1
    PYCR1 100.00 1
    SERPINF1 100.00 1
    SGSH 100.00 1
    SMARCE1 99.97 1
    SOST 100.00 1
    SOX9 100.00 1
    SUZ12 99.97 1
    TBX4 99.45 1
    WNT3 100.00 1
    XYLT2 100.00 1
    DYM 99.99 1
    LPIN2 99.99 1
    RBBP8 99.96 1
    SMAD2 100.00 1
    SMAD4 100.00 1
    SMCHD1 99.97 1
    TNFRSF11A 97.91 1
    ACP5 100.00 1
    ADAMTS10 100.00 1
    AKT2 100.00 1
    APC2 99.99 1
    B9D2 100.00 1
    CCDC8 100.00 1
    COMP 100.00 1
    DLL3 99.85 1
    DOCK6 100.00 1
    EPS15L1 100.00 1
    ERF 100.00 1
    FUZ 100.00 1
    GPX4 96.50 1
    LONP1 100.00 1
    MAN2B1 100.00 1
    MEGF8 99.96 1
    NFIX 99.97 1
    PRKACA 100.00 1
    SMARCA4 100.00 1
    TGFB1 100.00 1
    TYROBP 100.00 1
    UBA2 99.97 1
    ACVR1 100.00 1
    AFF3 100.00 1
    AGPS 99.76 1
    ANAPC1 99.82 1
    ARHGAP25 100.00 1
    BBS5 99.97 1
    CKAP2L 100.00 1
    COLEC11 100.00 1
    CRIPT 100.00 1
    CYP26B1 100.00 1
    DNMT3A 100.00 1
    DYNC2LI1 100.00 1
    EIF2AK3 99.96 1
    EN1 100.00 1
    EXOC6B 99.77 1
    FN1 100.00 1
    FOSL2 100.00 1
    GALNT3 99.99 1
    GLI2 100.00 1
    HAAO 100.00 1
    HDAC4 100.00 1
    HOXD13 100.00 1
    IDH1 100.00 1
    IFIH1 99.99 1
    IFT172 100.00 1
    IHH 100.00 1
    IL1RN 100.00 1
    KYNU 99.99 1
    LTBP1 100.00 1
    MAP3K20 100.00 1
    MATN3 99.95 1
    MTX2 99.95 1
    MYCN 99.97 1
    NBAS 100.00 1
    NPPC 100.00 1
    OBSL1 99.99 1
    ORC4 100.00 1
    PAX3 100.00 1
    PKDCC 99.76 1
    POLR1A 100.00 1
    POLR1B 100.00 1
    SIX2 100.00 1
    SMARCAL1 100.00 1
    TMEM237 99.98 1
    TRAF3IP1 100.00 1
    TTC21B 99.97 1
    WDPCP 91.91 1
    WDR35 99.99 1
    WNT6 100.00 1
    ASXL1 100.00 1
    BMP2 99.98 1
    COL9A3 100.00 1
    CTSA 100.00 1
    DDRGK1 100.00 1
    DPM1 97.07 1
    ELMO2 100.00 1
    GDF5 100.00 1
    GNAS 100.00 1
    GZF1 100.00 1
    IFT52 100.00 1
    LAMA5 99.87 1
    MAFB 100.00 1
    MKKS 99.98 1
    MMP9 100.00 1
    PLCB4 100.00 1
    SALL4 100.00 1
    SNRPB 100.00 1
    CFAP410 100.00 1
    DONSON 99.81 1
    PCNT 100.00 1
    ALG12 100.00 1
    CCDC134 100.00 1
    CDC45 100.00 1
    EP300 100.00 1
    FBLN1 99.89 1
    MCM5 100.00 1
    MYO18B 100.00 1
    PISD 100.00 1
    SMARCB1 100.00 1
    SPECC1L 100.00 1
    ALG3 100.00 1
    ARHGAP31 100.00 1
    ARL6 100.00 1
    ATR 99.98 1
    CASR 100.00 1
    COPB2 100.00 1
    CRTAP 99.90 1
    DVL3 100.00 1
    DYNLT2B 100.00 1
    EOGT 99.99 1
    FLNB 100.00 1
    GLB1 100.00 1
    HYAL1 100.00 1
    IFT122 100.00 1
    IFT80 99.94 1
    LMOD3 100.00 1
    MASP1 100.00 1
    MECOM 100.00 1
    NEPRO 99.99 1
    PCYT1A 100.00 1
    PIK3CA 99.97 1
    PLOD2 99.95 1
    POC1A 100.00 1
    PTH1R 100.00 1
    SETD2 99.99 1
    SLCO2A1 100.00 1
    SUMF1 100.00 1
    TGFBR2 100.00 1
    THPO 100.00 1
    TOP2B 99.85 1
    TP63 99.99 1
    TRAIP 100.00 1
    WNT5A 100.00 1
    WNT7A 100.00 1
    ZIC1 100.00 1
    AGA 100.00 1
    ANTXR2 100.00 1
    BBS12 100.00 1
    BBS7 99.97 1
    BMPR1B 100.00 1
    CC2D2A 98.21 1
    CENPE 99.92 1
    DMP1 100.00 1
    DSPP 100.00 1
    EDNRA 100.00 1
    EVC 96.08 1
    EVC2 100.00 1
    FGFR3 100.00 1
    HPGD 99.99 1
    IDUA 99.84 1
    INTU 100.00 1
    MAB21L2 100.00 1
    MANBA 99.99 1
    NEK1 99.99 1
    NKX3-2 100.00 1
    PRKG2 99.98 1
    RAB33B 100.00 1
    RBPJ 100.00 1
    SEC24D 100.00 1
    SGMS2 100.00 1
    SH3BP2 98.03 1
    SLC10A7 100.00 1
    TAPT1 98.76 1
    TMEM165 99.97 1
    UFSP2 99.99 1
    WDR19 99.94 1
    ANKH 100.00 1
    ARSB 99.92 1
    ARSK 99.98 1
    B4GALT7 99.95 1
    BNIP1 100.00 1
    CEP120 99.96 1
    CPLANE1 99.97 1
    CSF1R 100.00 1
    DNAJC21 100.00 1
    FBN2 99.99 1
    FGF10 100.00 1
    HSPA9 100.00 1
    IL6ST 99.99 1
    KIAA0825 99.99 1
    LIFR 99.94 1
    MSX2 100.00 1
    NIPBL 99.91 1
    NPR3 100.00 1
    NSD1 100.00 1
    PDE4D 99.99 1
    PDGFRB 100.00 1
    PITX1 100.00 1
    SH3PXD2B 100.00 1
    SLC26A2 100.00 1
    SPARC 100.00 1
    SQSTM1 100.00 1
    TCOF1 100.00 1
    XRCC4 100.00 1
    ZSWIM6 97.48 1
    ARID1B 99.51 1
    CCN6 100.00 1
    CILK1 99.92 1
    COL10A1 100.00 1
    COL11A2 100.00 1
    COL9A1 99.99 1
    CUL7 100.00 1
    DSE 99.66 1
    EDN1 100.00 1
    ENPP1 99.27 1
    FIG4 100.00 1
    FOXC1 99.89 1
    GCM2 100.00 1
    GJA1 100.00 1
    GMNN 99.99 1
    ID4 97.95 1
    MAP3K7 100.00 1
    MCM3 100.00 1
    NEU1 100.00 1
    OSTM1 99.96 1
    PEX7 100.00 1
    PGM3 100.00 1
    POLR1C 97.57 1
    RAB23 100.00 1
    RIPPLY2 99.85 1
    RUNX2 100.00 1
    SCUBE3 100.00 1
    SLC17A5 99.99 1
    SLC35B2 100.00 1
    TAB2 100.00 1
    TENT5A 100.00 1
    TFAP2B 100.00 1
    TREM2 100.00 1
    ACTB 100.00 1
    BBS9 99.96 1
    BMPER 100.00 1
    COL1A2 100.00 1
    CYP3A4 99.94 1
    DLX5 100.00 1
    DLX6 100.00 1
    DYNC2I1 96.68 1
    EZH2 99.98 1
    FAM20C 99.99 1
    FKBP14 99.95 1
    GLI3 100.00 1
    GUSB 100.00 1
    HOXA11 100.00 1
    HOXA13 96.84 1
    KDELR2 100.00 1
    LFNG 94.20 1
    LMBR1 99.96 1
    MCM7 100.00 1
    MET 100.00 1
    MNX1 87.84 1
    POR 100.00 1
    RINT1 99.95 1
    SBDS 100.00 1
    SFRP4 100.00 1
    SHH 100.00 1
    SLC4A2 100.00 1
    SMO 99.99 1
    SNX10 99.97 1
    TBXAS1 99.99 1
    TRPV6 99.41 1
    TWIST1 100.00 1
    ASAH1 99.99 1
    BMP1 100.00 1
    BPNT2 100.00 1
    CA2 100.00 1
    COLEC10 100.00 1
    CSGALNACT1 100.00 1
    CSPP1 99.99 1
    ESCO2 99.74 1
    EXT1 100.00 1
    EXTL3 100.00 1
    FGFR1 100.00 1
    GDF6 99.99 1
    HGSNAT 96.79 1
    NSMCE2 100.00 1
    POP1 100.00 1
    PTDSS1 100.00 1
    RAD21 100.00 1
    RECQL4 99.80 1
    RSPO2 100.00 1
    SLCO5A1 100.00 1
    SULF1 100.00 1
    TMEM67 99.30 1
    TNFRSF11B 100.00 1
    TONSL 100.00 1
    TRPS1 100.00 1
    ABL1 100.00 1
    ADAMTSL2 100.00 1
    COL27A1 100.00 1
    RIGI 99.97 1
    DYNC2I2 100.00 1
    HNRNPK 100.00 1
    IL11RA 100.00 1
    LMX1B 100.00 1
    MTAP 100.00 1
    NANS 100.00 1
    NOTCH1 100.00 1
    NPR2 100.00 1
    ROR2 99.98 1
    SLC34A3 100.00 1
    TGFBR1 100.00 1
    TMEM38B 100.00 1
    TRIM32 100.00 1
    VCP 100.00 1
    ZNF462 100.00 1
    AIFM1 100.00 1
    AMER1 100.00 1
    ARSL 100.00 1
    ATP7A 100.00 1
    BGN 100.00 1
    CCNQ 99.81 1
    CLCN5 100.00 1
    EBP 100.00 1
    EFNB1 100.00 1
    FANCB 100.00 1
    FGD1 100.00 1
    FGF16 100.00 1
    FLNA 100.00 1
    GPC3 100.00 1
    GPC4 100.00 1
    HDAC8 100.00 1
    IDS 100.00 1
    IKBKG 100.00 1
    MBTPS2 100.00 1
    MID1 100.00 1
    NSDHL 100.00 1
    OFD1 100.00 1
    PHEX 99.99 1
    PLS3 100.00 1
    PORCN 100.00 1
    SHOX 94.83 1
    SMC1A 100.00 1
    SMS 100.00 1
    TRAPPC2 100.00 1
    ZIC3 100.00 1
  • Spastic Paraplegia (89 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALS2 100.00 1 NM_020919.4
    AMPD2 100.00 1 NM_001368809.2
    AP4B1 100.00 1 NM_001253852.3
    AP4E1 100.00 1 NM_007347.5
    AP4M1 100.00 1 NM_004722.4
    AP4S1 100.00 1 NM_001128126.3
    AP5Z1 100.00 1 NM_014855.3
    ARL6IP1 100.00 1 NM_015161.3
    ARSI 100.00 1 NM_001012301.4
    ATL1 100.00 1 NM_015915.5
    B4GALNT1 100.00 1 NM_001478.5
    BICD2 100.00 1 NM_001003800.2
    BSCL2 100.00 1 NM_001122955.3
    MTRFR 100.00 1 NM_152269.5
    C19ORF12 100.00 1 NM_031448.6
    CCT5 100.00 1 NM_012073.5
    CYP2U1 100.00 1 NM_183075.3
    CYP7B1 100.00 1 NM_004820.5
    DDHD1 100.00 1 NM_001160148.2
    DDHD2 100.00 1 NM_015214.3
    ENTPD1 100.00 1 NM_001776.6
    ERLIN1 100.00 1 NM_006459.4
    ERLIN2 100.00 1 NM_007175.8
    FA2H 100.00 1 NM_024306.5
    FLRT1 100.00 1 NM_013280.4
    GAD1 100.00 1 NM_000817.3
    GBA2 100.00 1 NM_020944.3
    GJA1 100.00 1 NM_000165.5
    GJC2 100.00 1 NM_020435.4
    HSPD1 100.00 1 NM_002156.5
    KIF1A 100.00 1 NM_001244008.1
    KIF1C 100.00 1 NM_006612.6
    KIF5A 100.00 1 NM_004984.4
    L1CAM 100.00 1 NM_001278116.2
    MAG 100.00 1 NM_002361.4
    MARS1 100.00 1 NM_004990.4
    NIPA1 100.00 1 NM_144599.5
    NT5C2 100.00 1 NM_001351169.2
    PGAP1 100.00 1 NM_024989.4
    PLP1 100.00 1 NM_000533.5
    PNPLA6 100.00 1 NM_001166111.2
    RAB3GAP2 100.00 1 NM_012414.4
    REEP1 100.00 1 NM_001371279.1
    REEP2 100.00 1 NM_001271803.2
    RTN2 100.00 1 NM_005619.5
    SACS 100.00 1 NM_014363.6
    SETX 100.00 1 NM_015046.7
    SLC16A2 100.00 1 NM_006517.5
    SLC33A1 100.00 1 NM_004733.4
    SPART 100.00 1 NM_015087.5
    SPAST 100.00 1 NM_014946.3
    SPG11 100.00 1 NM_025137.4
    SPG21 100.00 1 NM_016630.7
    SPG7 100.00 1 NM_003119.4
    TECPR2 100.00 1 NM_014844.5
    TFG 100.00 1 NM_006070.6
    USP8 100.00 1 NM_005154.5
    VCP 100.00 1 NM_007126.5
    VPS37A 100.00 1 NM_152415.3
    WASHC5 100.00 1 NM_014846.4
    WDR48 100.00 1 NM_020839.4
    ZFR 100.00 1 NM_016107.5
    ZFYVE26 100.00 1 NM_015346.4
    ADAR 100.00 1 NM_001111.5
    AFG3L2 100.00 1 NM_006796.3
    ALDH18A1 100.00 1 NM_002860.4
    ALDH3A2 100.00 1 NM_000382.3
    ATXN1 100.00 1 NM_000332.3
    CAPN1 100.00 1 NM_005186.4
    COA8 100.00 1 NM_001370595.1
    CPT1C 100.00 1 NM_001199753.1
    CYP27A1 100.00 1 NM_000784.4
    DSTYK 100.00 1 NM_015375.3
    FARS2 100.00 1 NM_006567.5
    GFAP 100.00 1 NM_002055.5
    GLRX5 100.00 1 NM_016417.3
    HACE1 100.00 1 NM_020771.4
    IBA57 100.00 1 NM_001010867.4
    ITPR1 100.00 1 NM_001168272.1
    KIDINS220 100.00 1 NM_020738.4
    KLC2 100.00 1 NM_001134775.1
    KLC4 100.00 1 NM_201521.3
    PCYT2 100.00 1 NM_002861.5
    RAB18 100.00 1 NM_021252.5
    RAB3GAP1 100.00 1 NM_012233.3
    TBC1D20 100.00 1 NM_144628.4
    UBAP1 100.00 1 NM_016525.5
    UCHL1 100.00 1 NM_004181.5
    ZFYVE27 100.00 1 NM_001002261.3