- Analytes
- ADGRV1
ADGRV1
Name: |
adhesion G protein-coupled receptor V1
|
Symbol: |
ADGRV1
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
DKFZp761P0710
FEB4
KIAA0686
VLGR1
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
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Early onset epileptic encephalopathy (845 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment AARS1 100.00 0 No comment AARS2 99.75 0 No comment AASS 100.00 0 No comment ABAT 100.00 0 No comment ABCB1 100.00 0 No comment ABCC8 100.00 0 No comment ABCD1 97.56 0 No comment ACADM 99.87 0 No comment ACADS 97.51 0 No comment ACADSB 100.00 0 No comment ACO2 100.00 0 No comment ACOX1 100.00 0 No comment ACSF3 99.86 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ACVR1 100.00 0 No comment ACY1 100.00 0 No comment ADAR 100.00 0 No comment COQ8A 99.92 0 No comment ADK 100.00 0 No comment ADRA2B 100.00 0 No comment ADSL 100.00 0 No comment AFG3L2 94.80 0 No comment AGA 100.00 0 No comment AGTR2 100.00 0 No comment AHI1 100.00 0 No comment AIFM1 99.98 0 No comment AIMP1 99.97 0 No comment AKT2 100.00 0 No comment AKT3 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.94 0 No comment ALDH4A1 96.50 0 No comment ALDH5A1 84.13 0 No comment ALDH7A1 100.00 0 No comment ALG1 78.28 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.53 0 No comment ALG2 99.83 0 No comment ALG3 93.20 0 No comment ALG6 100.00 0 No comment ALG8 100.00 0 No comment ALG9 98.18 0 No comment ALMS1 99.85 0 No comment AMACR 96.78 0 No comment AMER1 99.97 0 No comment AMT 100.00 0 No comment ANKH 100.00 0 No comment ANKRD11 100.00 0 No comment AP3B2 98.68 0 No comment AP4E1 99.99 0 No comment APTX 99.96 0 No comment AR 100.00 0 No comment ARFGEF2 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF15 100.00 0 No comment ARHGEF9 99.92 0 No comment ARID1A 97.21 0 No comment ARID1B 98.17 0 No comment ARL13B 99.98 0 No comment ARSA 100.00 0 No comment SLURP1 87.81 0 No comment ARV1 100.00 0 No comment ARX 88.86 0 No comment ASAH1 100.00 0 No comment ASL 99.96 0 No comment ASNS 97.93 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 98.12 0 No comment ASXL1 99.93 0 No comment ATAD1 100.00 0 No comment ATIC 97.39 0 No comment ATN1 99.99 0 No comment ATP13A2 98.30 0 No comment ATP1A2 99.94 0 No comment ATP1A3 100.00 0 No comment ATP2A2 100.00 0 No comment ATP5F1A 99.63 0 No comment ATP6AP2 98.57 0 No comment ATP6V0A2 99.97 0 No comment ATP7A 100.00 0 No comment ATPAF2 100.00 0 No comment ANTXR1 99.97 0 No comment ATRX 99.89 0 No comment ATXN10 98.19 0 No comment ATXN2 93.25 0 No comment AUH 99.24 0 No comment AVPR2 99.37 0 No comment B3GALNT2 92.96 0 No comment B3GNT2 100.00 0 No comment B4GALT1 100.00 0 No comment BCAP31 99.81 0 No comment BCKDHA 99.90 0 No comment BCKDHB 100.00 0 No comment BCKDK 100.00 0 No comment BCS1L 100.00 0 No comment BOLA3 80.60 0 No comment BRAF 96.83 0 No comment BRAT1 99.93 0 No comment BRD2 94.60 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment BUB1B 100.00 0 No comment TWNK 100.00 0 No comment C12ORF57 100.00 0 No comment MTRFR 100.00 0 No comment CPLANE1 100.00 0 No comment CACNA1A 99.53 0 No comment CACNA1D 99.81 0 No comment CACNA1G 99.97 0 No comment CACNA1H 98.10 0 No comment CACNA2D1 100.00 0 No comment CACNA2D2 95.58 0 No comment CACNB4 99.95 0 No comment CAD 100.00 0 No comment CARS2 98.73 0 No comment KNL1 97.89 0 No comment CASK 99.99 0 No comment CASQ2 99.96 0 No comment CASR 100.00 0 No comment CBL 100.00 0 No comment CBS 99.85 0 No comment CC2D2A 100.00 0 No comment CCBE1 99.32 0 No comment CCDC88C 99.64 0 No comment CCL2 100.00 0 No comment CCM2 99.47 0 No comment CDK5RAP2 100.00 0 No comment CDKL5 99.77 0 No comment CDON 100.00 0 No comment CELSR1 95.69 0 No comment CENPJ 100.00 0 No comment CEP135 99.96 0 No comment CEP152 100.00 0 No comment CEP164 99.89 0 No comment CEP290 100.00 0 No comment CEP41 100.00 0 No comment CEP63 100.00 0 No comment CERS1 87.45 0 No comment CHD2 100.00 0 No comment CHD8 100.00 0 No comment CHKB 99.75 0 No comment CHMP1A 100.00 0 No comment CHRNA2 99.99 0 No comment CHRNA4 94.66 0 No comment CHRNA7 97.02 0 No comment CHRNB2 99.44 0 No comment CIC 99.22 0 No comment CLCN1 100.00 0 No comment CLCN2 100.00 0 No comment CLCN4 100.00 0 No comment CLCNKA 99.99 0 No comment CLCNKB 99.96 0 No comment CLDN16 100.00 0 No comment CLIC2 99.96 0 No comment CLN3 100.00 0 No comment CLN5 98.80 0 No comment CLN6 100.00 0 No comment CLN8 100.00 0 No comment CLPP 97.95 0 No comment CNKSR2 99.82 0 No comment CNNM2 100.00 0 No comment CNTN2 100.00 0 No comment CNTNAP2 99.10 0 No comment COA5 100.00 0 No comment COG1 99.01 0 No comment COG4 100.00 0 No comment COG5 99.95 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 99.96 0 No comment COL18A1 99.86 0 No comment COL4A1 98.48 0 No comment COL4A2 100.00 0 No comment COQ2 99.66 0 No comment COQ4 100.00 0 No comment COQ6 100.00 0 No comment COQ9 100.00 0 No comment COX10 100.00 0 No comment COX14 100.00 0 No comment COX15 99.99 0 No comment COX20 95.39 0 No comment COX6B1 100.00 0 No comment COX8A 100.00 0 No comment CYP2A6 100.00 0 No comment CYP21A2 100.00 0 No comment CPT1A 100.00 0 No comment CPT2 98.55 0 No comment CRH 99.37 0 No comment CRLF1 89.19 0 No comment CSNK1G1 100.00 0 No comment CSPP1 99.98 0 No comment CSTB 98.75 0 No comment CTC1 99.70 0 No comment CTSA 99.94 0 No comment CTSD 93.41 0 No comment CTSF 90.14 0 No comment CUL4B 99.51 0 No comment CYP27A1 99.38 0 No comment CYP27B1 99.05 0 No comment D2HGDH 99.95 0 No comment DARS2 100.00 0 No comment DBT 100.00 0 No comment DCHS1 99.86 0 No comment DCX 99.94 0 No comment DDC 100.00 0 No comment DDOST 100.00 0 No comment DDX3X 100.00 0 No comment DENND5A 99.04 0 No comment DEPDC5 100.00 0 No comment DHCR24 98.73 0 No comment DHCR7 99.97 0 No comment DHFR 91.86 0 No comment DIAPH1 99.95 0 No comment DLD 100.00 0 No comment DLGAP2 99.95 0 No comment DMD 99.96 0 No comment DNAJC5 100.00 0 No comment DNAJC6 99.98 0 No comment DNM1 93.52 0 No comment DNM1L 100.00 0 No comment DOCK6 99.15 0 No comment DOCK7 98.80 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DPYD 100.00 0 No comment DPYS 99.47 0 No comment DYNC1H1 99.92 0 No comment DYRK1A 100.00 0 No comment EARS2 100.00 0 No comment ECM1 100.00 0 No comment EEF1A2 99.08 0 No comment EFHC1 100.00 0 No comment EFHC2 99.79 0 No comment EFTUD2 99.99 0 No comment EHMT1 97.78 0 No comment EIF2B1 100.00 0 No comment EIF2B2 99.61 0 No comment EIF2B3 98.87 0 No comment EIF2B4 100.00 0 No comment EIF2B5 100.00 0 No comment EIF2S3 100.00 0 No comment ELOVL4 100.00 0 No comment ELP4 100.00 0 No comment EML1 98.26 0 No comment EMX2 99.97 0 No comment EOMES 100.00 0 No comment EPG5 100.00 0 No comment EPM2A 97.21 0 No comment EPRS 100.00 0 No comment ERBB4 100.00 0 No comment ERLIN2 100.00 0 No comment ERMARD 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment ETHE1 97.84 0 No comment EXOC6B 99.94 0 No comment EXOSC3 100.00 0 No comment EZH2 100.00 0 No comment FA2H 95.71 0 No comment FADD 90.35 0 No comment HYCC1 100.00 0 No comment FARS2 100.00 0 No comment FASN 99.95 0 No comment FASTKD2 100.00 0 No comment FAT4 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.24 0 No comment FGF12 99.90 0 No comment FGF8 94.19 0 No comment FGFR3 99.24 0 No comment FH 100.00 0 No comment FKRP 100.00 0 No comment FKTN 100.00 0 No comment FLNA 99.75 0 No comment FLVCR2 99.87 0 No comment FMR1 99.99 0 No comment FOLR1 100.00 0 No comment FOXG1 92.10 0 No comment FOXH1 100.00 0 No comment FOXRED1 100.00 0 No comment FRRS1L 82.37 0 No comment FTL 100.00 0 No comment FTO 100.00 0 No comment FUCA1 99.91 0 No comment GABBR2 96.91 0 No comment GABRA1 100.00 0 No comment GABRA3 99.59 0 No comment GABRB1 99.97 0 No comment GABRB2 100.00 0 No comment GABRB3 100.00 0 No comment GABRD 92.59 0 No comment GABRG2 91.70 0 No comment GAL 100.00 0 No comment GALC 98.98 0 No comment GALNS 94.36 0 No comment GAMT 97.00 0 No comment GATA3 100.00 0 No comment GATA6 87.61 0 No comment GATAD2B 100.00 0 No comment GATM 98.74 0 No comment GBA1 100.00 0 No comment GCDH 100.00 0 No comment GCH1 99.71 0 No comment GCK 99.13 0 No comment GCM2 100.00 0 No comment GCSH 73.97 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJC2 96.72 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLDC 97.39 0 No comment GLI2 96.28 0 No comment GLI3 100.00 0 No comment GLRA1 100.00 0 No comment GLRB 100.00 0 No comment GLUD1 96.22 0 No comment GLUL 100.00 0 No comment GLYCTK 98.86 0 No comment GM2A 100.00 0 No comment GMPPB 100.00 0 No comment GNAO1 100.00 0 No comment GNB1 100.00 0 No comment GNE 100.00 0 No comment GNPTAB 99.91 0 No comment GNPTG 95.92 0 No comment GNS 100.00 0 No comment GOSR2 100.00 0 No comment GPC3 99.72 0 No comment GPHN 100.00 0 No comment ADGRG1 99.99 0 No comment ADGRV1 100.00 0 No comment GRIA3 99.99 0 No comment GRIN1 99.80 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN2D 77.00 0 No comment GRINA 100.00 0 No comment GRN 100.00 0 No comment GSS 100.00 0 No comment GTPBP3 99.60 0 No comment GUF1 100.00 0 No comment GUSB 97.13 0 No comment HACE1 98.41 0 No comment HADH 100.00 0 No comment HAX1 100.00 0 No comment HCCS 100.00 0 No comment HCFC1 99.85 0 No comment HCN1 99.93 0 No comment HCN4 97.56 0 No comment HDAC4 99.86 0 No comment HDAC8 99.75 0 No comment HEPACAM 99.85 0 No comment HERC2 97.66 0 No comment HESX1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HGSNAT 94.10 0 No comment HLCS 100.00 0 No comment HMBS 100.00 0 No comment HMGCL 100.00 0 No comment HNRNPH1 100.00 0 No comment HNRNPH2 100.00 0 No comment HNRNPU 99.82 0 No comment HPD 100.00 0 No comment HRAS 100.00 0 No comment HSD17B10 100.00 0 No comment HSD17B4 100.00 0 No comment HSPD1 95.18 0 No comment HTRA2 100.00 0 No comment HYAL1 100.00 0 No comment IDH2 93.11 0 No comment IDS 99.88 0 No comment IDUA 91.86 0 No comment IER3IP1 99.44 0 No comment ELP1 100.00 0 No comment INPP5E 99.14 0 No comment INS 97.76 0 No comment INSR 96.68 0 No comment IQSEC2 98.53 0 No comment CRPPA 95.50 0 No comment ITPA 100.00 0 No comment IVD 100.00 0 No comment JAM3 99.88 0 No comment JRK 100.00 0 No comment KANSL1 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNAB1 100.00 0 No comment KCNB1 98.34 0 No comment KCNC1 100.00 0 No comment KCND2 100.00 0 No comment KCNH1 100.00 0 No comment KCNH2 98.15 0 No comment KCNH5 100.00 0 No comment KCNJ1 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ11 100.00 0 No comment KCNK18 100.00 0 No comment KCNMA1 99.93 0 No comment KCNQ2 99.92 0 No comment KCNQ3 98.20 0 No comment KCNT1 98.96 0 No comment KCNV2 100.00 0 No comment KCTD7 100.00 0 No comment KDM5C 99.97 0 No comment KDM6A 99.72 0 No comment RUBCN 96.60 0 No comment KIFBP 100.00 0 No comment NEXMIF 100.00 0 No comment KIF11 100.00 0 No comment KIF2A 99.97 0 No comment KIF4A 99.86 0 No comment KIF5C 100.00 0 No comment KIF7 99.64 0 No comment KMT2B 98.33 0 No comment KMT2D 99.98 0 No comment KPTN 100.00 0 No comment KRAS 100.00 0 No comment KRIT1 100.00 0 No comment L1CAM 99.98 0 No comment L2HGDH 99.75 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 98.42 0 No comment LARGE1 100.00 0 No comment LBR 100.00 0 No comment LGI1 100.00 0 No comment LIAS 100.00 0 No comment LIG1 99.86 0 No comment LIG4 100.00 0 No comment LMBRD1 100.00 0 No comment LMNB2 95.84 0 No comment LRFN1 99.79 0 No comment LRFN2 100.00 0 No comment LRFN3 99.92 0 No comment LRFN4 98.83 0 No comment LRFN5 100.00 0 No comment LRP2 99.71 0 No comment LRPPRC 98.80 0 No comment MAGI2 94.89 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.81 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.99 0 No comment MAPK10 100.00 0 No comment MBD5 100.00 0 No comment MBOAT7 99.93 0 No comment MBTPS2 100.00 0 No comment MCCC1 99.77 0 No comment MCOLN1 95.75 0 No comment MCPH1 99.70 0 No comment MDH2 94.63 0 No comment ME2 100.00 0 No comment MECP2 96.46 0 No comment MED12 99.98 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFF 100.00 0 No comment MFSD8 100.00 0 No comment MGAT2 100.00 0 No comment MGME1 100.00 0 No comment MLC1 98.57 0 No comment MLYCD 96.09 0 No comment MMACHC 100.00 0 No comment MMADHC 100.00 0 No comment MOCS1 99.94 0 No comment MOCS2 100.00 0 No comment MOGS 98.86 0 No comment MPDU1 100.00 0 No comment MPDZ 100.00 0 No comment MPI 100.00 0 No comment MSX2 100.00 0 No comment MTHFR 100.00 0 No comment MTOR 100.00 0 No comment MTR 100.00 0 No comment MTRR 100.00 0 No comment MMUT 99.99 0 No comment MYO5A 99.67 0 No comment NAA10 96.95 0 No comment NACC1 100.00 0 No comment NAGA 100.00 0 No comment NAGLU 96.69 0 No comment NALCN 100.00 0 No comment NARS2 99.88 0 No comment NDE1 100.00 0 No comment NDP 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 96.45 0 No comment NDUFA11 80.54 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF3 100.00 0 No comment NDUFAF4 99.26 0 No comment NDUFAF5 99.96 0 No comment NDUFAF6 95.61 0 No comment NDUFB3 98.57 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS6 100.00 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NDUFV2 100.00 0 No comment NECAP1 100.00 0 No comment NEDD4L 98.66 0 No comment NEU1 100.00 0 No comment NF1 98.78 0 No comment NFIX 94.60 0 No comment NGLY1 99.96 0 No comment NHEJ1 100.00 0 No comment NHLRC1 96.01 0 No comment NIN 100.00 0 No comment NIPA2 100.00 0 No comment NIPBL 99.48 0 No comment NLGN4X 100.00 0 No comment NLGN4Y 60.20 0 No comment NODAL 99.87 0 No comment NOTCH3 93.46 0 No comment NPC1 97.50 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRAS 100.00 0 No comment NRXN1 99.87 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NUBPL 99.92 0 No comment OCLN 100.00 0 No comment OCRL 98.81 0 No comment OFD1 97.13 0 No comment OPHN1 99.94 0 No comment OTC 99.17 0 No comment OTX2 100.00 0 No comment PACS2 99.96 0 No comment PAFAH1B1 100.00 0 No comment PAH 100.00 0 No comment PAK3 98.75 0 No comment PANK2 100.00 0 No comment PAX6 100.00 0 No comment PODXL 100.00 0 No comment PCBD1 85.60 0 No comment PCCA 99.94 0 No comment PCCB 99.54 0 No comment PCDH19 98.99 0 No comment PCNT 99.88 0 No comment PDCD10 100.00 0 No comment PDE6D 100.00 0 No comment PDGFB 97.18 0 No comment PDGFRB 99.98 0 No comment PDHA1 92.64 0 No comment PDHX 100.00 0 No comment PDP1 100.00 0 No comment PDSS1 85.11 0 No comment PDSS2 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX10 87.10 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX14 99.31 0 No comment PEX16 99.97 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 99.74 0 No comment PEX7 95.60 0 No comment PGAP2 100.00 0 No comment PGAP3 98.48 0 No comment PGK1 99.88 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHGDH 100.00 0 No comment PIGA 98.95 0 No comment PIGL 100.00 0 No comment PIGM 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGP 100.00 0 No comment PIGQ 100.00 0 No comment PIGT 100.00 0 No comment PIGV 100.00 0 No comment PIK3AP1 99.71 0 No comment PIK3CA 100.00 0 No comment PIK3R2 88.52 0 No comment PLA2G6 100.00 0 No comment PLCB1 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PNKP 99.84 0 No comment PNPO 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMC 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.53 0 No comment PPFIA1 100.00 0 No comment PPFIA2 100.00 0 No comment PPFIA3 96.20 0 No comment PPFIA4 100.00 0 No comment PPFIBP1 100.00 0 No comment PPFIBP2 100.00 0 No comment PPP2R2C 99.91 0 No comment PPT1 100.00 0 No comment PQBP1 99.91 0 No comment PRDM8 88.36 0 No comment PRF1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRICKLE2 100.00 0 No comment PRODH 88.26 0 No comment PLPBP 99.89 0 No comment PRRT2 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 99.61 0 No comment PSPH 100.00 0 No comment PTCH1 98.82 0 No comment PTEN 99.45 0 No comment PTH 100.00 0 No comment PTPN11 94.43 0 No comment PTS 99.91 0 No comment PURA 95.47 0 No comment QARS1 100.00 0 No comment QDPR 98.39 0 No comment RAB18 99.99 0 No comment RAB27A 100.00 0 No comment RAB39B 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAD21 100.00 0 No comment RAF1 100.00 0 No comment RAI1 93.59 0 No comment RANBP2 95.47 0 No comment RANGAP1 100.00 0 No comment RARS2 100.00 0 No comment RBBP8 99.97 0 No comment RBFOX1 98.87 0 No comment RBFOX3 98.41 0 No comment RELN 100.00 0 No comment RFT1 99.87 0 No comment RGMA 100.00 0 No comment RHOBTB2 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 94.58 0 No comment RNASEH2C 100.00 0 No comment RNASET2 100.00 0 No comment ROGDI 91.40 0 No comment RORB 100.00 0 No comment RPGRIP1L 96.40 0 No comment RPIA 99.96 0 No comment RRM2B 100.00 0 No comment RTTN 99.98 0 No comment RYR3 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 99.34 0 No comment SCARB2 99.99 0 No comment SCN10A 100.00 0 No comment SCN1A 100.00 0 No comment SCN1B 87.40 0 No comment SCN2A 100.00 0 No comment SCN2B 100.00 0 No comment SCN3A 100.00 0 No comment SCN3B 100.00 0 No comment SCN4A 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SCN8A 100.00 0 No comment SCN9A 99.99 0 No comment SCO2 93.85 0 No comment SDHA 95.31 0 No comment SDHAF1 90.31 0 No comment SEPSECS 99.57 0 No comment SERPINI1 100.00 0 No comment SETBP1 100.00 0 No comment SETD5 100.00 0 No comment SGSH 99.85 0 No comment SHANK3 90.31 0 No comment SHH 99.47 0 No comment SHOC2 100.00 0 No comment SHROOM4 99.98 0 No comment SIK1 100.00 0 No comment SIX3 99.61 0 No comment SLC12A5 99.86 0 No comment SLC12A6 100.00 0 No comment SLC13A5 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 99.97 0 No comment SLC17A5 100.00 0 No comment SLC19A3 99.90 0 No comment SLC1A2 100.00 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A1 98.83 0 No comment SLC25A12 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A19 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A22 100.00 0 No comment SLC2A1 100.00 0 No comment SLC2A2 99.95 0 No comment SLC35A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35A3 100.00 0 No comment SLC35C1 100.00 0 No comment SLC3A2 90.78 0 No comment SLC46A1 99.98 0 No comment SLC4A10 99.99 0 No comment SLC6A1 100.00 0 No comment SLC6A19 99.98 0 No comment SLC6A5 100.00 0 No comment SLC6A8 99.41 0 No comment SLC6A9 100.00 0 No comment SLC9A6 99.66 0 No comment SLC9A9 100.00 0 No comment SMARCA1 98.12 0 No comment SMARCA2 98.99 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCE1 98.46 0 No comment SMC1A 99.87 0 No comment SMC3 100.00 0 No comment SMPD1 100.00 0 No comment SNAP25 100.00 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SOS1 100.00 0 No comment SOX10 95.36 0 No comment SOX2 95.35 0 No comment SPRED1 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A3 98.61 0 No comment SRGAP3 100.00 0 No comment SRPX2 99.04 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 90.70 0 No comment STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment STX1B 99.96 0 No comment STXBP1 100.00 0 No comment SUCLA2 99.86 0 No comment SUCLG1 93.27 0 No comment SUMF1 100.00 0 No comment SUOX 100.00 0 No comment SURF1 82.91 0 No comment SYN1 96.00 0 No comment SYNGAP1 99.76 0 No comment SYNJ1 99.72 0 No comment SYP 97.84 0 No comment SZT2 99.99 0 No comment TACO1 99.66 0 No comment TBC1D20 95.06 0 No comment TBC1D24 99.99 0 No comment TBCE 100.00 0 No comment TBL1XR1 100.00 0 No comment TBX1 83.55 0 No comment TCF4 100.00 0 No comment TCF7L2 100.00 0 No comment TCTN1 100.00 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TGIF1 100.00 0 No comment TK2 100.00 0 No comment TMEM138 100.00 0 No comment TMEM165 91.64 0 No comment TMEM216 99.87 0 No comment TMEM231 100.00 0 No comment TMEM237 99.85 0 No comment RXYLT1 100.00 0 No comment TMEM67 99.95 0 No comment TMEM70 100.00 0 No comment TNK2 99.86 0 No comment ACD 99.99 0 No comment TRAK1 100.00 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRPM6 100.00 0 No comment TSC1 100.00 0 No comment TSC2 99.94 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 91.60 0 No comment TTC21B 100.00 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 99.98 0 No comment TUBB2A 100.00 0 No comment TUBB2B 100.00 0 No comment TUBB3 99.01 0 No comment TUBB4A 100.00 0 No comment TUBG1 100.00 0 No comment TUSC3 100.00 0 No comment TYROBP 100.00 0 No comment UBA5 100.00 0 No comment UBE2A 100.00 0 No comment UBE3A 100.00 0 No comment UBR5 100.00 0 No comment UPB1 100.00 0 No comment VANGL1 100.00 0 No comment VARS1 100.00 0 No comment VDAC1 95.12 0 No comment VLDLR 96.00 0 No comment VPS13A 100.00 0 No comment VPS13B 100.00 0 No comment VPS53 100.00 0 No comment VRK1 100.00 0 No comment WDR45 100.00 0 No comment WDR45B 99.94 0 No comment WDR62 100.00 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XK 99.44 0 No comment YWHAG 100.00 0 No comment ZBTB18 99.54 0 No comment ZC4H2 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 99.96 0 No comment ZIC2 95.66 0 No comment ZNF335 100.00 0 No comment ZNF423 100.00 0 No comment -
Epilepsy gene panel - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment AARS1 100.00 0 No comment AASS 100.00 0 No comment ABAT 100.00 0 No comment ABCB1 100.00 0 No comment ABCC8 99.81 0 No comment ABCD1 99.93 0 No comment ACADM 99.94 0 No comment ACADS 99.48 0 No comment ACADSB 100.00 0 No comment ACO2 100.00 0 No comment ACOX1 100.00 0 No comment ACSF3 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ACVR1 100.00 0 No comment ACY1 100.00 0 No comment ADAR 100.00 0 No comment ADGRG1 100.00 0 No comment ADGRV1 100.00 0 No comment ADK 100.00 0 No comment ADRA2B 100.00 0 No comment ADSL 100.00 0 No comment AFG3L2 95.05 0 No comment AGA 100.00 0 No comment AGTR2 100.00 0 No comment AHI1 100.00 0 No comment AIFM1 100.00 0 No comment AIMP1 100.00 0 No comment AKT2 100.00 0 No comment AKT3 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.95 0 No comment ALDH4A1 97.15 0 No comment ALDH5A1 83.59 0 No comment ALDH7A1 100.00 0 No comment ALG1 92.65 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.96 0 No comment ALG2 99.94 0 No comment ALG3 99.22 0 No comment ALG6 100.00 0 No comment ALG8 95.91 0 No comment ALG9 98.65 0 No comment ALMS1 100.00 0 No comment AMACR 99.83 0 No comment AMER1 100.00 0 No comment AMT 99.94 0 No comment ANKH 100.00 0 No comment ANKRD11 100.00 0 No comment AP3B2 99.73 0 No comment AP4E1 100.00 0 No comment APTX 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF15 100.00 0 No comment ARHGEF9 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARSA 100.00 0 No comment SLURP1 85.73 0 No comment ARX 78.98 0 No comment ASAH1 99.94 0 No comment ASL 100.00 0 No comment ASNS 100.00 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 99.87 0 No comment ASXL1 99.91 0 No comment ATIC 99.06 0 No comment ATN1 100.00 0 No comment ATP1A2 100.00 0 No comment ATP1A3 100.00 0 No comment ATP2A2 100.00 0 No comment ATP5F1A 100.00 0 No comment ATP6AP2 99.95 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATPAF2 100.00 0 No comment ANTXR1 100.00 0 No comment ATRX 100.00 0 No comment ATXN10 99.48 0 No comment AUH 96.44 0 No comment AVPR2 100.00 0 No comment B3GALNT2 85.88 0 No comment B3GNT2 100.00 0 No comment B4GALT1 100.00 0 No comment B4GAT1 100.00 0 No comment BCAP31 100.00 0 No comment BCKDHA 100.00 0 No comment BCKDHB 100.00 0 No comment BCKDK 100.00 0 No comment BCS1L 100.00 0 No comment BOLA3 84.43 0 No comment BRAF 96.97 0 No comment BRAT1 100.00 0 No comment BRD2 95.47 0 No comment BTD 100.00 0 No comment BUB1B 100.00 0 No comment C12ORF57 100.00 0 No comment MTRFR 100.00 0 No comment CACNA1A 98.78 0 No comment CACNA1D 100.00 0 No comment CACNA1H 97.35 0 No comment CACNA2D1 100.00 0 No comment CACNA2D2 94.87 0 No comment CACNB4 100.00 0 No comment CAMK2B 99.93 0 No comment CASK 100.00 0 No comment CASQ2 100.00 0 No comment CASR 100.00 0 No comment CBL 100.00 0 No comment CBS 100.00 0 No comment CC2D2A 98.16 0 No comment CCBE1 99.97 0 No comment CCDC88C 99.92 0 No comment CCL2 100.00 0 No comment CCM2 99.98 0 No comment CDK5RAP2 100.00 0 No comment CDKL5 100.00 0 No comment CDON 100.00 0 No comment CELSR1 93.72 0 No comment CENPJ 100.00 0 No comment CEP135 100.00 0 No comment CEP152 100.00 0 No comment CEP164 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP63 95.17 0 No comment CERS1 77.89 0 No comment CHD2 100.00 0 No comment CHD8 100.00 0 No comment CHKB 99.69 0 No comment CHMP1A 100.00 0 No comment CHRNA2 100.00 0 No comment CHRNA4 97.18 0 No comment CHRNA7 97.88 0 No comment CHRNB2 99.92 0 No comment CLCN1 100.00 0 No comment CLCN2 100.00 0 No comment CLCN4 100.00 0 No comment CLCNKA 100.00 0 No comment CLCNKB 100.00 0 No comment CLDN16 100.00 0 No comment CLIC2 100.00 0 No comment CLN3 100.00 0 No comment CLN5 99.94 0 No comment CLN6 90.35 0 No comment CLN8 100.00 0 No comment CLPP 100.00 0 No comment CNTN2 100.00 0 No comment CNTNAP2 99.85 0 No comment COA5 100.00 0 No comment COG1 99.24 0 No comment COG4 100.00 0 No comment COG5 100.00 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 100.00 0 No comment COL18A1 97.80 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment COQ2 97.15 0 No comment COQ6 100.00 0 No comment COQ8A 100.00 0 No comment COQ9 99.99 0 No comment COX10 100.00 0 No comment COX14 100.00 0 No comment COX15 100.00 0 No comment COX20 98.72 0 No comment COX6B1 100.00 0 No comment CYP2A6 100.00 0 No comment CPLANE1 100.00 0 No comment CYP21A2 100.00 0 No comment CPT2 98.71 0 No comment CRH 100.00 0 No comment CRLF1 89.81 0 No comment CRPPA 95.75 0 No comment CSNK1G1 100.00 0 No comment CSPP1 100.00 0 No comment CSTB 99.03 0 No comment CTC1 100.00 0 No comment CTSA 100.00 0 No comment CTSD 99.45 0 No comment CTSF 87.32 0 No comment CUL4B 100.00 0 No comment CYP27A1 99.68 0 No comment CYP27B1 99.96 0 No comment D2HGDH 100.00 0 No comment DBT 100.00 0 No comment DCHS1 99.64 0 No comment DCX 100.00 0 No comment DDC 100.00 0 No comment DDOST 100.00 0 No comment DEPDC5 99.62 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHDDS 100.00 0 No comment DHFR 99.48 0 No comment DLD 100.00 0 No comment DLGAP2 100.00 0 No comment DMD 100.00 0 No comment DNAJC5 100.00 0 No comment DNAJC6 100.00 0 No comment DNM1 94.44 0 No comment DOCK6 99.12 0 No comment DOCK7 99.17 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DPYD 100.00 0 No comment DPYS 99.91 0 No comment DYNC1H1 100.00 0 No comment DYRK1A 100.00 0 No comment EARS2 100.00 0 No comment ECM1 100.00 0 No comment EEF1A2 99.76 0 No comment EFHC1 100.00 0 No comment EFHC2 100.00 0 No comment EFTUD2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2B1 100.00 0 No comment EIF2B2 100.00 0 No comment EIF2B3 100.00 0 No comment EIF2B4 100.00 0 No comment EIF2B5 100.00 0 No comment ELOVL4 100.00 0 No comment ELP1 100.00 0 No comment ELP4 92.12 0 No comment EMX2 100.00 0 No comment EOMES 98.56 0 No comment EPG5 100.00 0 No comment EPM2A 85.54 0 No comment ERLIN2 100.00 0 No comment ERMARD 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment ETHE1 99.88 0 No comment EXOC6B 100.00 0 No comment EXOSC3 100.00 0 No comment EZH2 100.00 0 No comment FA2H 92.06 0 No comment FADD 92.08 0 No comment HYCC1 100.00 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FAT4 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.39 0 No comment FGF8 94.82 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLVCR2 100.00 0 No comment FMR1 100.00 0 No comment FOLR1 100.00 0 No comment FOXG1 85.88 0 No comment FOXH1 100.00 0 No comment FTO 100.00 0 No comment FUCA1 100.00 0 No comment GABBR2 95.78 0 No comment GABRA1 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 99.79 0 No comment GABRD 94.04 0 No comment GABRG2 92.03 0 No comment GAL 100.00 0 No comment GALC 98.44 0 No comment GALNS 96.18 0 No comment GAMT 98.60 0 No comment GATA3 100.00 0 No comment GATA6 81.11 0 No comment GATM 99.26 0 No comment GBA1 100.00 0 No comment GCDH 100.00 0 No comment GCH1 96.30 0 No comment GCK 100.00 0 No comment GCM2 100.00 0 No comment GCSH 76.04 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJC2 81.91 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLDC 96.53 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLRA1 100.00 0 No comment GLRB 100.00 0 No comment GLUD1 99.45 0 No comment GLUL 100.00 0 No comment GLYCTK 100.00 0 No comment GM2A 100.00 0 No comment GMPPB 100.00 0 No comment GNAO1 100.00 0 No comment GNE 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GNS 100.00 0 No comment GOSR2 100.00 0 No comment GPC3 100.00 0 No comment GPHN 100.00 0 No comment GRIA3 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRINA 100.00 0 No comment GRN 100.00 0 No comment GTPBP3 100.00 0 No comment GUSB 100.00 0 No comment HADH 100.00 0 No comment HAX1 100.00 0 No comment HCCS 100.00 0 No comment HCFC1 100.00 0 No comment HCN1 95.88 0 No comment HCN4 92.35 0 No comment HDAC4 100.00 0 No comment HDAC8 100.00 0 No comment HEPACAM 96.82 0 No comment HERC2 99.62 0 No comment HESX1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.82 0 No comment HGSNAT 93.95 0 No comment HLCS 100.00 0 No comment HMBS 100.00 0 No comment HNRNPU 99.54 0 No comment HPD 100.00 0 No comment HRAS 100.00 0 No comment HSD17B10 100.00 0 No comment HSD17B4 100.00 0 No comment HSPD1 99.53 0 No comment HYAL1 100.00 0 No comment IDH2 92.01 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment IER3IP1 99.93 0 No comment INPP5E 99.54 0 No comment INS 100.00 0 No comment INSR 97.31 0 No comment IQSEC2 99.73 0 No comment IVD 100.00 0 No comment JAM3 100.00 0 No comment JRK 100.00 0 No comment KANSL1 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNAB1 100.00 0 No comment KCNB1 99.89 0 No comment KCNC1 100.00 0 No comment KCND2 100.00 0 No comment KCNH1 100.00 0 No comment KCNH2 94.44 0 No comment KCNH5 100.00 0 No comment KCNJ1 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ11 100.00 0 No comment KCNK18 100.00 0 No comment KCNMA1 99.94 0 No comment KCNQ2 99.98 0 No comment KCNQ3 96.44 0 No comment KCNT1 99.74 0 No comment KCNV2 100.00 0 No comment KCTD7 97.35 0 No comment KDM5C 100.00 0 No comment KDM6A 100.00 0 No comment KIF11 100.00 0 No comment KIFBP 100.00 0 No comment KIF2A 98.88 0 No comment KIF4A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KMT2B 97.12 0 No comment KMT2D 100.00 0 No comment KNL1 98.62 0 No comment KPTN 100.00 0 No comment KRAS 100.00 0 No comment KRIT1 100.00 0 No comment L1CAM 100.00 0 No comment L2HGDH 99.96 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LARGE1 100.00 0 No comment LBR 100.00 0 No comment LGI1 100.00 0 No comment LIAS 100.00 0 No comment LIG1 100.00 0 No comment LIG4 100.00 0 No comment LMBRD1 100.00 0 No comment LRFN1 100.00 0 No comment LRFN2 100.00 0 No comment LRFN3 99.97 0 No comment LRFN4 100.00 0 No comment LRFN5 100.00 0 No comment LRP2 99.96 0 No comment LRPPRC 99.14 0 No comment MAGI2 92.73 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.99 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAPK10 100.00 0 No comment MBD5 100.00 0 No comment MBTPS2 100.00 0 No comment MCCC1 100.00 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment ME2 100.00 0 No comment MECP2 98.28 0 No comment MED12 100.00 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFSD8 100.00 0 No comment MGAT2 100.00 0 No comment MGME1 100.00 0 No comment MLC1 100.00 0 No comment MLYCD 85.50 0 No comment MMACHC 100.00 0 No comment MMADHC 100.00 0 No comment MMUT 100.00 0 No comment MOCS1 99.95 0 No comment MOCS2 100.00 0 No comment MOGS 98.73 0 No comment MPDU1 100.00 0 No comment MPDZ 100.00 0 No comment MPI 100.00 0 No comment MSX2 100.00 0 No comment MTHFR 100.00 0 No comment MTOR 100.00 0 No comment MTR 100.00 0 No comment MTRR 100.00 0 No comment MYO5A 99.60 0 No comment NAA10 96.03 0 No comment NAGA 100.00 0 No comment NAGLU 87.38 0 No comment NALCN 100.00 0 No comment NDE1 100.00 0 No comment NDP 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 95.87 0 No comment NDUFA11 98.06 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF3 100.00 0 No comment NDUFAF4 100.00 0 No comment NDUFAF5 100.00 0 No comment NDUFAF6 93.73 0 No comment NDUFB3 100.00 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 100.00 0 No comment NDUFS6 100.00 0 No comment NDUFS7 99.49 0 No comment NDUFS8 100.00 0 No comment NDUFV1 100.00 0 No comment NDUFV2 100.00 0 No comment NECAP1 100.00 0 No comment NEDD4L 100.00 0 No comment NEU1 100.00 0 No comment NEXMIF 100.00 0 No comment NF1 99.95 0 No comment NFIX 97.15 0 No comment NGLY1 99.98 0 No comment NHEJ1 100.00 0 No comment NHLRC1 99.73 0 No comment NIN 100.00 0 No comment NIPA2 100.00 0 No comment NIPBL 99.98 0 No comment NLGN4X 100.00 0 No comment NLGN4Y 55.32 0 No comment NODAL 99.99 0 No comment NOTCH3 92.99 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRAS 100.00 0 No comment NRXN1 98.52 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NTRK2 100.00 0 No comment NUBPL 100.00 0 No comment NUS1 100.00 0 No comment OCLN 100.00 0 No comment OCRL 99.77 0 No comment OFD1 99.88 0 No comment OPHN1 100.00 0 No comment OTC 100.00 0 No comment OTX2 100.00 0 No comment PAFAH1B1 100.00 0 No comment PAH 99.94 0 No comment PAK3 100.00 0 No comment PANK2 98.60 0 No comment PAX6 100.00 0 No comment PODXL 100.00 0 No comment PCBD1 92.74 0 No comment PCDH19 99.91 0 No comment PCNT 100.00 0 No comment PDCD10 100.00 0 No comment PDE6D 100.00 0 No comment PDGFB 99.77 0 No comment PDGFRB 100.00 0 No comment PDHA1 98.17 0 No comment PDHX 99.87 0 No comment PDP1 100.00 0 No comment PDSS1 86.24 0 No comment PDSS2 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX10 88.47 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX14 100.00 0 No comment PEX16 100.00 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 98.56 0 No comment PEX7 91.13 0 No comment PGAP2 100.00 0 No comment PGAP3 99.90 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHGDH 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGM 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGQ 100.00 0 No comment PIGV 100.00 0 No comment PIK3AP1 99.56 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PLA2G6 100.00 0 No comment PLCB1 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PNKP 100.00 0 No comment PNPO 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMC 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PPFIA1 100.00 0 No comment PPFIA2 100.00 0 No comment PPFIA3 98.81 0 No comment PPFIA4 100.00 0 No comment PPFIBP1 100.00 0 No comment PPFIBP2 100.00 0 No comment PPP2R2C 100.00 0 No comment PPT1 100.00 0 No comment PQBP1 100.00 0 No comment PRF1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRICKLE2 100.00 0 No comment PRODH 86.43 0 No comment PRRT2 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTEN 98.86 0 No comment PTH 100.00 0 No comment PTPN11 98.80 0 No comment PTS 100.00 0 No comment PURA 85.32 0 No comment QARS1 100.00 0 No comment QDPR 99.04 0 No comment RAB18 100.00 0 No comment RAB27A 100.00 0 No comment RAB39B 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAD21 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RANGAP1 100.00 0 No comment RARS2 100.00 0 No comment RBBP8 100.00 0 No comment RBFOX1 99.94 0 No comment RBFOX3 99.96 0 No comment RELN 99.96 0 No comment RFT1 100.00 0 No comment RGMA 99.10 0 No comment RHOBTB2 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNASET2 99.98 0 No comment ROGDI 91.80 0 No comment RORB 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPIA 100.00 0 No comment RRM2B 100.00 0 No comment RTTN 100.00 0 No comment RUBCN 97.68 0 No comment RXYLT1 99.84 0 No comment RYR3 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 100.00 0 No comment SCARB2 100.00 0 No comment SCN10A 100.00 0 No comment SCN1A 100.00 0 No comment SCN1B 94.12 0 No comment SCN2A 100.00 0 No comment SCN2B 100.00 0 No comment SCN3A 100.00 0 No comment SCN3B 100.00 0 No comment SCN4A 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SCN8A 100.00 0 No comment SCN9A 100.00 0 No comment SCO2 100.00 0 No comment SDHA 98.02 0 No comment SDHAF1 96.03 0 No comment SEPSECS 99.97 0 No comment SERPINI1 100.00 0 No comment SETBP1 99.99 0 No comment SGSH 99.99 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SHROOM4 100.00 0 No comment SIK1 100.00 0 No comment SIX3 99.59 0 No comment SLC12A5 100.00 0 No comment SLC12A6 100.00 0 No comment SLC13A5 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 100.00 0 No comment SLC17A5 100.00 0 No comment SLC19A3 100.00 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A1 93.77 0 No comment SLC25A12 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A19 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A22 100.00 0 No comment SLC2A1 99.94 0 No comment SLC2A2 100.00 0 No comment SLC35A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35C1 100.00 0 No comment SLC3A2 88.97 0 No comment SLC46A1 99.95 0 No comment SLC4A10 100.00 0 No comment SLC6A1 100.00 0 No comment SLC6A5 100.00 0 No comment SLC6A8 98.78 0 No comment SLC9A6 99.96 0 No comment SLC9A9 100.00 0 No comment SMARCA1 99.59 0 No comment SMARCA2 98.07 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCE1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMPD1 100.00 0 No comment SNAP25 100.00 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SOS1 100.00 0 No comment SOX10 96.79 0 No comment SOX2 98.05 0 No comment SPRED1 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A3 99.42 0 No comment SRGAP3 100.00 0 No comment SRPX2 100.00 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 92.64 0 No comment STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment STX1B 100.00 0 No comment STXBP1 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUMF1 100.00 0 No comment SUOX 100.00 0 No comment SURF1 87.74 0 No comment SYN1 95.92 0 No comment SYNGAP1 100.00 0 No comment SYNJ1 99.96 0 No comment SYP 99.27 0 No comment SZT2 100.00 0 No comment TACO1 99.90 0 No comment TBC1D20 93.59 0 No comment TBC1D24 100.00 0 No comment TBCE 100.00 0 No comment TBX1 77.39 0 No comment TCF4 100.00 0 No comment TCTN1 93.78 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TGIF1 100.00 0 No comment TK2 95.90 0 No comment TMEM138 100.00 0 No comment TMEM165 89.91 0 No comment TMEM216 100.00 0 No comment TMEM231 100.00 0 No comment TMEM237 99.97 0 No comment TMEM67 100.00 0 No comment TMEM70 100.00 0 No comment TNK2 100.00 0 No comment ACD 100.00 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRPM6 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 94.23 0 No comment TTC21B 100.00 0 No comment TTR 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2A 99.99 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBB4A 99.85 0 No comment TUBG1 100.00 0 No comment TUSC3 100.00 0 No comment TWNK 100.00 0 No comment TYROBP 100.00 0 No comment UBE2A 99.62 0 No comment UBE3A 100.00 0 No comment UBR5 100.00 0 No comment UPB1 100.00 0 No comment VANGL1 100.00 0 No comment VARS2 100.00 0 No comment VDAC1 99.21 0 No comment VLDLR 96.53 0 No comment VPS13A 100.00 0 No comment VPS13B 99.25 0 No comment VPS53 100.00 0 No comment VRK1 100.00 0 No comment WDR45 100.00 0 No comment WDR62 100.00 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XK 100.00 0 No comment ZBTB18 100.00 0 No comment ZC4H2 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZIC2 80.54 0 No comment ZNF335 100.00 0 No comment -
Hearing loss (deafness) (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD12 99.11 1 ACTG1 100.00 1 ADCY1 98.44 1 ADGRV1 99.88 1 AIFM1 99.43 1 ATOH1 100.00 1 ATP11A 99.99 1 ATP2B2 99.96 1 ATP6V0A4 99.83 1 ATP6V1B1 99.92 1 ATP6V1B2 99.91 1 BDP1 99.89 1 BSND 100.00 1 CABP2 99.99 1 CACNA1D 99.94 1 CCDC50 99.92 1 CD164 99.92 1 CDC14A 99.95 1 CDH23 99.95 1 CEACAM16 99.92 1 CEP250 99.98 1 CEP78 99.83 1 CHD7 99.96 1 CIB2 99.99 1 CISD2 99.95 1 CLDN14 100.00 1 CLIC5 99.98 1 CLPP 100.00 1 CLRN1 99.97 1 COCH 99.90 1 COL11A1 99.89 1 COL11A2 99.35 1 COL2A1 100.00 1 COL4A3 99.94 1 COL4A4 99.96 1 COL4A5 99.18 1 COL4A6 99.37 1 COL9A1 99.98 1 COL9A2 99.95 1 COL9A3 99.86 1 CRYL1 99.89 1 CRYM 99.91 1 DCDC2 99.93 1 DIABLO 99.98 1 DIAPH1 97.50 1 DIAPH3 99.86 1 DMXL2 99.40 1 DNAAF10 99.97 1 EDN3 100.00 1 EDNRB 99.94 1 ELMOD3 100.00 1 EPHA10 97.51 1 EPS8 99.87 1 EPS8L2 99.87 1 ERAL1 99.97 1 ESPN 96.05 1 ESRP1 99.81 1 ESRRB 100.00 1 EYA1 99.93 1 EYA4 99.98 1 FDXR 99.98 1 FGF3 98.11 1 FOXI1 100.00 1 GATA3 99.89 1 GIPC3 97.45 1 GJB2 100.00 1 GJB3 100.00 1 GJB6 100.00 1 GPSM2 99.94 1 GRHL2 99.95 1 GRXCR1 100.00 1 GRXCR2 99.91 1 GSDME 99.97 1 HARS1 99.99 1 HARS2 99.51 1 HECTD3 99.39 1 HGF 99.96 1 HOMER2 99.74 1 HOXA2 99.93 1 HSD17B4 99.80 1 IFNLR1 99.52 1 ILDR1 99.95 1 KARS1 99.91 1 KCNE1 100.00 1 KCNJ10 100.00 1 KCNQ1 99.87 1 KCNQ4 99.49 1 KITLG 99.87 1 LARS2 99.99 1 LHFPL5 99.99 1 LMX1A 100.00 1 LOXHD1 99.73 1 LRTOMT 99.99 1 MARVELD2 99.96 1 MCM2 99.96 1 MET 99.97 1 MIR96 100.00 1 MITF 99.97 1 MPZL2 99.96 1 MSRB3 99.96 1 MTAP 98.96 1 MYH14 99.79 1 MYH9 100.00 1 MYO15A 99.59 1 MYO3A 99.84 1 MYO6 99.77 1 MYO7A 99.99 1 NARS2 99.94 1 NDP 99.95 1 NLRP3 99.90 1 OSBPL2 100.00 1 OTOA 99.83 1 OTOF 99.95 1 OTOG 99.99 1 OTOGL 99.63 1 P2RX2 99.91 1 PAX3 99.98 1 PCDH15 99.94 1 PDE1C 99.92 1 PDZD7 99.82 1 PI4KB 99.55 1 PJVK 99.79 1 PLS1 99.80 1 PNPT1 99.86 1 POLR1B 99.95 1 POLR1C 97.52 1 POLR1D 99.72 1 POU3F4 99.94 1 POU4F3 100.00 1 PPIP5K2 99.83 1 PRPS1 99.79 1 PTPRQ 99.83 1 RDX 99.80 1 REST 99.96 1 RIPOR2 99.96 1 ROR1 98.58 1 S1PR2 100.00 1 SALL1 99.99 1 SEMA3E 99.97 1 SERPINB6 98.21 1 SIX1 100.00 1 SIX5 99.87 1 SLC12A2 98.96 1 SLC17A8 99.95 1 SLC22A4 99.96 1 SLC26A4 99.95 1 SLC26A5 99.95 1 SLC4A11 99.99 1 SLC7A8 99.99 1 SLITRK6 100.00 1 SMPX 99.37 1 SNAI2 99.98 1 SOX10 100.00 1 SPATC1L 100.00 1 SSBP1 99.99 1 STRC 99.73 1 SYNE4 100.00 1 TBC1D24 99.97 1 TCOF1 99.96 1 TECTA 99.97 1 THRAP3 99.89 1 TIMM8A 99.78 1 TJP2 99.94 1 TMC1 99.83 1 TMEM132E 99.75 1 TMIE 99.95 1 TMPRSS3 99.95 1 TMTC2 99.96 1 TNC 99.97 1 TPRN 90.56 1 TRIOBP 99.09 1 TSPEAR 99.97 1 TWNK 100.00 1 USH1C 98.72 1 USH1G 99.96 1 USH2A 99.95 1 USP48 99.80 1 WBP2 99.86 1 WFS1 100.00 1 WHRN 99.69 1 -
Hearing loss (deafness) syndromic (59 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATP6V0A4 ATP6V1B1 BSND CDH23 CHD7 CISD2 CLPP CLRN1 COL11A1 COL11A2 COL2A1 COL4A3 COL4A4 COL4A5 COL9A1 COL9A2 COL9A3 WHRN DIAPH1 EDN3 EDNRB ERAL1 EYA1 ADGRV1 HARS1 HARS2 HSD17B4 KCNE1 KCNQ1 KITLG LARS2 MITF MT-RNR1 MT-TL1 MT-TS1 MYH9 MYO7A NARS2 NDP NLRP3 PAX3 PCDH15 PDZD7 TWNK POLR1C POLR1D SEMA3E SIX1 SIX5 SLC26A4 SLITRK6 SNAI2 SOX10 TBC1D24 TCOF1 USH1C USH1G USH2A WFS1 -
Intellectual disability (gene panel)
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 97.92 0 No comment AAAS 98.73 0 No comment AARS1 98.82 0 No comment AASS 98.51 0 No comment ABAT 99.40 0 No comment ABCB11 98.30 0 No comment ABCB7 94.65 0 No comment ABCC6 99.58 0 No comment ABCC8 99.33 0 No comment ABCC9 99.05 0 No comment ABCD1 97.12 0 No comment ABCD4 98.90 0 No comment ABCG5 99.05 0 No comment ABHD12 89.63 0 No comment ABHD5 97.97 0 No comment ACAD9 99.34 0 No comment ACADM 97.15 0 No comment ACADS 99.06 0 No comment ACADSB 96.29 0 No comment ACADVL 98.55 0 No comment ACAN 98.12 0 No comment ACAT1 97.08 0 No comment ACBD6 99.00 0 No comment ACE2 97.24 0 No comment ACIN1 99.19 0 No comment ACO2 98.76 0 No comment ACOT9 97.29 0 No comment ACOX1 98.24 0 No comment ACP5 98.80 0 No comment ACSF3 99.18 0 No comment ACSL4 91.66 0 No comment ACTA2 99.56 0 No comment ACTB 99.87 0 No comment ACTG1 99.91 0 No comment ACTL6A 99.12 0 No comment ACTL6B 98.82 0 No comment ACVR1 99.30 0 No comment ACY1 99.53 0 No comment ADA 98.79 0 No comment ADAM22 97.86 0 No comment ADAMTS10 99.11 0 No comment ADAR 99.42 0 No comment ADARB1 93.73 0 No comment ADAT3 98.92 0 No comment COQ8A 99.33 0 No comment ADCY5 95.67 0 No comment ADD3 99.21 0 No comment ADK 98.15 0 No comment ADNP 99.77 0 No comment ADPRS 96.99 0 No comment ADRA2B 99.24 0 No comment ADSL 99.02 0 No comment AFF2 96.88 0 No comment AFF3 99.12 0 No comment AFF4 99.25 0 No comment AFG3L2 96.83 0 No comment AFP 98.35 0 No comment AGA 99.31 0 No comment AGK 99.23 0 No comment AGL 98.86 0 No comment AGMO 98.98 0 No comment AGO1 99.33 0 No comment AGPAT2 95.70 0 No comment AGPS 96.48 0 No comment AGT 99.43 0 No comment AGTR2 99.44 0 No comment AGXT 99.20 0 No comment AHCY 99.37 0 No comment AHDC1 99.43 0 No comment AHI1 98.72 0 No comment AIFM1 96.67 0 No comment AIMP1 96.59 0 No comment AIMP2 99.14 0 No comment AIPL1 99.50 0 No comment AIRE 97.18 0 No comment AK1 99.47 0 No comment AK2 98.26 0 No comment AKAP17A 96.52 0 No comment AKAP4 99.11 0 No comment AKAP6 99.28 0 No comment AKR1C2 99.87 0 No comment AKR1D1 99.35 0 No comment AKT1 99.32 0 No comment AKT3 97.83 0 No comment ALAD 99.59 0 No comment ALDH18A1 99.49 0 No comment ALDH1A3 96.21 0 No comment ALDH3A2 98.54 0 No comment ALDH4A1 98.01 0 No comment ALDH5A1 96.17 0 No comment ALDH7A1 98.33 0 No comment ALDOA 99.58 0 No comment ALDOB 99.46 0 No comment ALG1 99.07 0 No comment ALG11 99.81 0 No comment ALG12 99.70 0 No comment ALG13 91.46 0 No comment ALG14 98.86 0 No comment ALG2 99.56 0 No comment ALG3 98.85 0 No comment ALG6 98.37 0 No comment ALG8 99.11 0 No comment ALG9 98.84 0 No comment ALKBH8 98.86 0 No comment ALMS1 99.15 0 No comment ALPL 99.07 0 No comment ALS2 98.98 0 No comment ALX1 99.69 0 No comment ALX3 96.22 0 No comment ALX4 99.35 0 No comment AMER1 99.70 0 No comment AMPD2 99.08 0 No comment AMT 99.79 0 No comment ANK3 99.57 0 No comment ANKH 99.15 0 No comment ANKRD11 97.84 0 No comment ANO10 98.75 0 No comment ANO3 99.47 0 No comment ANO5 99.01 0 No comment ANTXR1 94.84 0 No comment AP1B1 99.25 0 No comment AP1S1 95.66 0 No comment AP1S2 85.55 0 No comment AP2M1 98.28 0 No comment AP3B1 98.71 0 No comment AP3B2 98.28 0 No comment AP4B1 99.39 0 No comment AP4E1 98.53 0 No comment AP4M1 99.53 0 No comment AP4S1 99.30 0 No comment AP5Z1 98.97 0 No comment APC2 94.47 0 No comment COA8 95.39 0 No comment APTX 98.38 0 No comment AQP7 99.87 0 No comment AR 95.56 0 No comment ARCN1 96.22 0 No comment ARFGEF2 98.65 0 No comment ARG1 99.07 0 No comment ARHGAP31 99.50 0 No comment ARHGAP36 98.64 0 No comment ARHGAP6 95.05 0 No comment ARHGEF2 98.52 0 No comment ARHGEF4 99.40 0 No comment ARHGEF6 94.23 0 No comment ARHGEF9 96.24 0 No comment ARID1A 97.52 0 No comment ARID1B 95.00 0 No comment ARID2 99.53 0 No comment ARIH1 98.86 0 No comment ARL13B 97.87 0 No comment ARL14EP 97.37 0 No comment ARL6 98.82 0 No comment ODAD2 98.89 0 No comment ARMC9 98.71 0 No comment ARSA 99.35 0 No comment ARSB 96.85 0 No comment ARSL 94.37 0 No comment ARSF 93.30 0 No comment ARV1 99.17 0 No comment ARX 75.98 0 No comment ASAH1 98.03 0 No comment ASB12 96.10 0 No comment ASCC3 98.81 0 No comment ASCL1 98.32 0 No comment ASH1L 99.56 0 No comment ASL 98.41 0 No comment ASMT 92.35 0 No comment ASMTL 99.94 0 No comment ASNS 99.40 0 No comment ASPA 98.77 0 No comment ASPH 98.90 0 No comment ASPM 99.12 0 No comment ASS1 99.61 0 No comment ASTN1 99.12 0 No comment ASXL1 99.32 0 No comment ASXL2 94.54 0 No comment ASXL3 98.97 0 No comment ATAD1 95.52 0 No comment ATAD3A 98.34 0 No comment ATCAY 99.48 0 No comment ATIC 98.97 0 No comment ATL1 96.64 0 No comment ATM 98.13 0 No comment ATN1 98.73 0 No comment ATP13A2 99.25 0 No comment ATP1A1 98.42 0 No comment ATP1A2 98.77 0 No comment ATP1A3 99.51 0 No comment ATP2A2 98.83 0 No comment ATP2B3 97.71 0 No comment ATP6AP1 96.58 0 No comment ATP6AP2 93.72 0 No comment ATP6V0A2 99.30 0 No comment ATP6V1A 97.97 0 No comment ATP6V1B1 98.05 0 No comment ATP6V1B2 98.55 0 No comment ATP7A 96.22 0 No comment ATP7B 99.52 0 No comment ATP8A2 99.53 0 No comment ATP8B1 98.96 0 No comment ATR 98.89 0 No comment ATRX 95.60 0 No comment ATXN1 99.33 0 No comment ATXN10 98.33 0 No comment ATXN2 91.35 0 No comment ATXN3 98.93 0 No comment ATXN3L 99.08 0 No comment ATXN7 95.21 0 No comment AUH 99.00 0 No comment AUTS2 98.29 0 No comment AVP 86.48 0 No comment AVPR2 99.55 0 No comment AWAT2 98.86 0 No comment B3GALNT2 96.88 0 No comment B3GALT6 74.99 0 No comment B3GLCT 95.44 0 No comment B4GALNT1 98.73 0 No comment B4GALT1 97.25 0 No comment B4GALT7 93.89 0 No comment B9D1 98.92 0 No comment BBS1 99.26 0 No comment BBS10 99.67 0 No comment BBS12 99.69 0 No comment BBS2 98.90 0 No comment BBS4 98.91 0 No comment BBS5 98.35 0 No comment BBS7 99.11 0 No comment BBS9 98.84 0 No comment BCAP31 92.90 0 No comment BCKDHA 99.19 0 No comment BCKDHB 99.14 0 No comment BCKDK 98.03 0 No comment BCL11A 99.29 0 No comment BCL11B 95.65 0 No comment BCOR 98.20 0 No comment BCORL1 98.79 0 No comment BCS1L 99.07 0 No comment BDP1 99.48 0 No comment BEAN1 99.42 0 No comment BFSP2 99.16 0 No comment BGN 97.15 0 No comment BHLHA9 83.99 0 No comment BICD2 99.34 0 No comment BIN1 99.27 0 No comment BLM 97.69 0 No comment BMP15 94.45 0 No comment BMP4 99.03 0 No comment BMPER 99.17 0 No comment BMPR1B 99.45 0 No comment BOLA3 98.55 0 No comment BPIFB6 98.75 0 No comment BPTF 96.21 0 No comment BRAF 97.62 0 No comment BRAT1 98.61 0 No comment BRCA1 99.65 0 No comment BRCA2 98.74 0 No comment BRD4 90.53 0 No comment BRF1 97.49 0 No comment BRIP1 98.87 0 No comment BRPF1 99.09 0 No comment BRSK2 97.89 0 No comment BRWD3 96.19 0 No comment BSCL2 99.32 0 No comment BSND 99.48 0 No comment BTD 99.63 0 No comment BTK 96.82 0 No comment BUB1B 98.89 0 No comment C12ORF4 98.72 0 No comment C12ORF57 99.66 0 No comment MTRFR 98.21 0 No comment CCDC32 98.00 0 No comment VPS35L 98.65 0 No comment C19ORF12 98.79 0 No comment C2CD3 98.92 0 No comment PCARE 98.64 0 No comment DIPK2A 99.10 0 No comment ODAPH 99.74 0 No comment CPLANE1 98.94 0 No comment CFAP418 98.78 0 No comment C9ORF72 98.10 0 No comment CA2 99.35 0 No comment CA5A 99.23 0 No comment CA8 99.30 0 No comment CACNA1A 98.14 0 No comment CACNA1B 96.02 0 No comment CACNA1C 99.14 0 No comment CACNA1D 99.31 0 No comment CACNA1E 99.29 0 No comment CACNA1F 97.17 0 No comment CACNA1G 99.06 0 No comment CACNA1H 98.12 0 No comment CACNA1S 98.76 0 No comment CACNA2D2 95.24 0 No comment CACNA2D3 98.17 0 No comment CACNB4 99.35 0 No comment CACNG2 99.57 0 No comment CAD 99.05 0 No comment CAMK2A 99.63 0 No comment CAMK2B 97.56 0 No comment CAMK2G 96.97 0 No comment CAMTA1 99.08 0 No comment CANT1 98.12 0 No comment CAP1 99.44 0 No comment CAPN10 99.27 0 No comment CAPRIN1 99.09 0 No comment CAPZA2 96.21 0 No comment CARS1 99.79 0 No comment CARS2 96.59 0 No comment KNL1 96.88 0 No comment CASK 95.86 0 No comment CASP2 99.05 0 No comment CASR 99.36 0 No comment CBL 98.79 0 No comment CBS 99.88 0 No comment CC2D1A 98.90 0 No comment CC2D2A 98.66 0 No comment CCBE1 98.76 0 No comment CCDC103 99.47 0 No comment ODAD1 99.10 0 No comment CCDC115 99.59 0 No comment CCDC22 97.58 0 No comment SVBP 99.76 0 No comment CCDC39 98.58 0 No comment CCDC40 98.68 0 No comment CEP83 98.29 0 No comment CCDC47 98.08 0 No comment CCDC65 99.18 0 No comment CCDC78 99.72 0 No comment CCDC8 99.54 0 No comment CCDC88A 98.66 0 No comment CCDC88C 99.06 0 No comment CCNA2 99.24 0 No comment CCNB3 99.08 0 No comment CCND2 98.80 0 No comment CCNO 99.50 0 No comment CCT5 98.48 0 No comment CD96 98.95 0 No comment CD99 99.96 0 No comment CDC42 98.38 0 No comment CDC42BPB 99.25 0 No comment CDC45 99.38 0 No comment CDC6 98.74 0 No comment CDH11 99.46 0 No comment CDH15 99.37 0 No comment CDH2 99.12 0 No comment CDH23 98.80 0 No comment CDH3 99.16 0 No comment CDK10 99.78 0 No comment CDK13 95.98 0 No comment CDK16 98.07 0 No comment CDK19 99.08 0 No comment CDK5R1 99.67 0 No comment CDK5RAP2 99.35 0 No comment CDK8 96.11 0 No comment CDKL5 93.83 0 No comment CDKN1C 86.67 0 No comment CDON 98.33 0 No comment CDT1 91.10 0 No comment CENPF 98.91 0 No comment CENPJ 99.50 0 No comment CEP104 99.17 0 No comment CEP135 96.95 0 No comment CEP152 98.51 0 No comment CEP290 98.38 0 No comment CEP41 98.54 0 No comment CEP55 99.06 0 No comment CEP57 98.39 0 No comment CEP63 98.63 0 No comment CFP 97.99 0 No comment CHAMP1 99.90 0 No comment CHD2 98.65 0 No comment CHD3 98.02 0 No comment CHD4 99.40 0 No comment CHD7 99.13 0 No comment CHD8 99.13 0 No comment CHKB 97.91 0 No comment DDX11 98.90 0 No comment CHM 89.56 0 No comment CHMP1A 98.78 0 No comment CHRDL1 97.84 0 No comment CHRNA2 99.41 0 No comment CHRNA4 98.72 0 No comment CHRNB2 99.57 0 No comment CHRNG 99.02 0 No comment CHST14 98.06 0 No comment CHST3 99.63 0 No comment CHSY1 93.60 0 No comment CHUK 98.09 0 No comment CIB2 98.54 0 No comment CIC 98.17 0 No comment CISD2 97.44 0 No comment CIT 99.14 0 No comment CKAP2L 99.24 0 No comment CLCN2 99.53 0 No comment CLCN4 98.32 0 No comment CLCN5 98.19 0 No comment CLCN7 97.43 0 No comment CLCNKA 99.53 0 No comment CLCNKB 99.55 0 No comment CLDN19 98.68 0 No comment CLIC2 95.82 0 No comment CLN3 99.63 0 No comment CLN5 98.95 0 No comment CLN6 94.08 0 No comment CLN8 99.98 0 No comment CLP1 99.53 0 No comment CLPB 98.72 0 No comment CLPP 98.67 0 No comment CLTC 98.69 0 No comment CMC4 96.87 0 No comment CNKSR1 99.49 0 No comment CNKSR2 95.65 0 No comment CNNM2 99.22 0 No comment CNOT1 98.98 0 No comment CNOT2 99.08 0 No comment CNOT3 98.24 0 No comment CNTN3 99.26 0 No comment CNTN4 99.15 0 No comment CNTNAP2 99.12 0 No comment COA3 99.34 0 No comment COA5 99.73 0 No comment COASY 98.90 0 No comment COG1 99.22 0 No comment COG4 99.26 0 No comment COG5 98.95 0 No comment COG6 98.53 0 No comment COG7 99.10 0 No comment COG8 99.58 0 No comment COL10A1 98.73 0 No comment COL11A1 99.16 0 No comment COL11A2 99.40 0 No comment COL18A1 98.80 0 No comment COL1A1 98.56 0 No comment COL1A2 99.53 0 No comment COL25A1 99.68 0 No comment COL2A1 99.63 0 No comment COL4A1 98.90 0 No comment COL4A2 98.81 0 No comment COL4A3 98.60 0 No comment CERT1 98.80 0 No comment COL4A4 99.18 0 No comment COL4A6 96.60 0 No comment COL6A1 99.30 0 No comment COL6A3 99.58 0 No comment COL9A1 99.37 0 No comment COL9A2 99.12 0 No comment COL9A3 95.16 0 No comment COLEC10 98.66 0 No comment COLEC11 99.77 0 No comment COMP 99.30 0 No comment COQ2 97.65 0 No comment COQ4 98.65 0 No comment COQ5 98.41 0 No comment COQ9 98.96 0 No comment COX10 99.59 0 No comment COX14 97.55 0 No comment COX15 99.27 0 No comment COX6B1 99.22 0 No comment COX7B 98.33 0 No comment CP 98.56 0 No comment CPA6 99.18 0 No comment HOMER2 98.16 0 No comment CPS1 99.26 0 No comment CPXCR1 98.61 0 No comment CRADD 98.71 0 No comment CRB1 99.41 0 No comment CRB2 98.33 0 No comment CRBN 99.00 0 No comment CREBBP 99.20 0 No comment CRLF2 96.34 0 No comment CRX 99.30 0 No comment CRYAA 99.93 0 No comment CRYBA1 99.47 0 No comment CRYBA4 99.30 0 No comment CRYBB1 99.71 0 No comment CRYBB2 99.21 0 No comment CRYBB3 97.71 0 No comment CRYGC 99.70 0 No comment CRYGD 99.70 0 No comment CSDE1 99.37 0 No comment CSF1R 98.97 0 No comment CSF2RA 88.66 0 No comment CSNK1G1 98.84 0 No comment CSNK2A1 99.27 0 No comment CSNK2B 99.56 0 No comment CSPP1 98.55 0 No comment CSTB 99.72 0 No comment CSTF2 95.94 0 No comment CTBP1 96.89 0 No comment CTC1 99.15 0 No comment CTCF 98.88 0 No comment CTDP1 96.55 0 No comment CCN2 97.14 0 No comment CTNNA2 98.80 0 No comment CTNNB1 99.57 0 No comment CTNND2 94.20 0 No comment CTNS 99.36 0 No comment CTPS2 96.99 0 No comment CTSA 99.45 0 No comment CTSD 99.18 0 No comment CTSF 96.71 0 No comment CTSK 99.73 0 No comment CTTNBP2 99.25 0 No comment CTU2 98.59 0 No comment CUL3 98.83 0 No comment CUL4B 92.06 0 No comment CUL7 99.50 0 No comment CUX1 96.61 0 No comment CUX2 98.80 0 No comment CWC27 97.65 0 No comment CWF19L1 98.83 0 No comment CFAP47 93.78 0 No comment STEEP1 92.87 0 No comment CXorf58 94.93 0 No comment CYB5R3 97.94 0 No comment CYC1 91.11 0 No comment CYFIP2 98.67 0 No comment CYP1B1 99.46 0 No comment CYP27A1 99.02 0 No comment CYP2U1 96.42 0 No comment CYP7B1 97.88 0 No comment D2HGDH 99.43 0 No comment DAB1 98.49 0 No comment DACT1 97.23 0 No comment DAG1 99.84 0 No comment DARS1 97.83 0 No comment DARS2 98.51 0 No comment DBT 98.43 0 No comment DCAF17 98.20 0 No comment DCC 99.25 0 No comment DCHS1 99.42 0 No comment DCHS2 96.72 0 No comment DCPS 99.51 0 No comment DCTN1 99.19 0 No comment DCX 97.69 0 No comment DDB2 99.44 0 No comment DDC 98.92 0 No comment DDHD1 98.96 0 No comment DDHD2 97.51 0 No comment DDOST 99.21 0 No comment DDR2 98.02 0 No comment INTS6L 94.69 0 No comment DDX3X 94.86 0 No comment DDX53 99.21 0 No comment RIGI 98.54 0 No comment DDX59 98.74 0 No comment DDX6 99.28 0 No comment DEAF1 94.52 0 No comment DECR1 98.30 0 No comment DEGS1 98.48 0 No comment DENND5A 98.76 0 No comment DEPDC5 98.88 0 No comment DGKH 97.01 0 No comment DHCR24 99.02 0 No comment DHCR7 99.47 0 No comment DHDDS 97.02 0 No comment DHFR 96.94 0 No comment DHODH 99.05 0 No comment DHPS 98.61 0 No comment DHRSX 91.20 0 No comment DHTKD1 98.94 0 No comment DHX30 98.83 0 No comment DIAPH1 91.23 0 No comment DIAPH2 87.29 0 No comment DIP2B 98.90 0 No comment DIS3L2 98.91 0 No comment DKC1 93.86 0 No comment DLAT 98.39 0 No comment DLD 98.88 0 No comment DLG1 98.14 0 No comment DLG2 99.29 0 No comment DLG3 97.25 0 No comment DLG4 99.13 0 No comment DLGAP2 99.74 0 No comment DLL3 86.64 0 No comment DLL4 99.36 0 No comment DMD 96.45 0 No comment DMP1 99.65 0 No comment DMPK 99.32 0 No comment DMXL2 98.36 0 No comment DNA2 98.22 0 No comment DNAAF3 98.65 0 No comment DNAJC12 99.66 0 No comment DNAJC19 96.91 0 No comment DNAJC3 96.14 0 No comment DNM1 97.82 0 No comment DNM1L 98.63 0 No comment DNM2 98.34 0 No comment DNMT1 98.21 0 No comment DNMT3A 99.20 0 No comment DNMT3B 99.29 0 No comment DOCK11 92.03 0 No comment DOCK3 98.52 0 No comment DOCK6 99.05 0 No comment DOCK7 98.51 0 No comment DOCK8 99.20 0 No comment DOLK 99.80 0 No comment DONSON 96.21 0 No comment DPAGT1 99.38 0 No comment DPF1 98.48 0 No comment DPF2 99.34 0 No comment DPF3 99.50 0 No comment DPH1 99.38 0 No comment DPM1 99.42 0 No comment DPM2 99.20 0 No comment DPM3 99.69 0 No comment DPP6 92.06 0 No comment DPYD 99.12 0 No comment DRD2 99.36 0 No comment DSCAM 98.89 0 No comment VPS26C 99.43 0 No comment DSPP 98.82 0 No comment DST 98.99 0 No comment DSTYK 99.35 0 No comment DVL1 99.68 0 No comment DVL3 98.80 0 No comment DYM 97.55 0 No comment DYNC1H1 99.37 0 No comment DYNC1I2 98.87 0 No comment DYNC2H1 97.67 0 No comment DYRK1A 99.47 0 No comment DNAAF4 98.09 0 No comment EBF3 99.40 0 No comment EBP 98.55 0 No comment ECEL1 97.04 0 No comment EDA 97.49 0 No comment EDNRA 99.24 0 No comment EDNRB 98.60 0 No comment EED 97.73 0 No comment EEF1A2 92.77 0 No comment EEF1B2 97.60 0 No comment EFHC1 98.17 0 No comment EFNB1 98.53 0 No comment EFTUD2 98.05 0 No comment EGR2 99.61 0 No comment EHMT1 98.17 0 No comment EIF2A 97.83 0 No comment EIF2AK1 98.91 0 No comment EIF2AK3 97.90 0 No comment EIF2S3 97.86 0 No comment EIF3F 99.59 0 No comment EIF4A3 99.56 0 No comment EIF4G1 99.24 0 No comment ELAC2 99.51 0 No comment ELK1 98.30 0 No comment ELN 99.54 0 No comment ELOVL4 99.51 0 No comment ELOVL5 98.85 0 No comment ELP2 99.00 0 No comment EMC1 99.43 0 No comment EMG1 99.17 0 No comment EML1 98.84 0 No comment EMX2 99.75 0 No comment EN2 95.92 0 No comment ENOX2 95.88 0 No comment ENPP1 95.08 0 No comment TEPSIN 99.67 0 No comment ENTPD1 97.83 0 No comment EOGT 90.07 0 No comment EOMES 99.11 0 No comment EP300 99.21 0 No comment EPB41L1 99.19 0 No comment EPG5 98.98 0 No comment EPM2A 91.75 0 No comment EPPK1 99.37 0 No comment SELENOI 98.64 0 No comment ERCC1 97.35 0 No comment ERCC2 98.26 0 No comment ERCC3 99.57 0 No comment ERCC4 99.08 0 No comment ERCC5 99.17 0 No comment ERCC6 99.25 0 No comment ERCC6L2 98.36 0 No comment ERCC8 99.23 0 No comment ERF 99.27 0 No comment ERLIN2 99.21 0 No comment ERMARD 99.76 0 No comment ESCO2 97.40 0 No comment ESX1 96.03 0 No comment ETFA 97.87 0 No comment ETFB 99.51 0 No comment ETFDH 97.92 0 No comment ETHE1 98.75 0 No comment EVC 94.14 0 No comment EVC2 97.83 0 No comment EXOSC3 98.97 0 No comment EXOSC8 98.32 0 No comment EXT1 99.14 0 No comment EXT2 99.43 0 No comment EXTL3 99.80 0 No comment EYA1 99.11 0 No comment EZH2 96.67 0 No comment F5 99.15 0 No comment FA2H 97.25 0 No comment FAAH2 92.70 0 No comment FAH 96.88 0 No comment OTULIN 89.08 0 No comment FAM111A 99.59 0 No comment FAM111B 99.76 0 No comment FAM120C 96.47 0 No comment HYCC1 99.23 0 No comment RETREG1 97.37 0 No comment FHIP2A 97.70 0 No comment FAM161A 99.42 0 No comment FAM20A 94.00 0 No comment FAM20C 96.33 0 No comment FAM47B 99.81 0 No comment CCNQ 84.67 0 No comment FANCA 98.47 0 No comment FANCB 97.15 0 No comment FANCC 99.30 0 No comment FANCD2 99.02 0 No comment FANCE 95.74 0 No comment FANCF 99.29 0 No comment FANCG 98.43 0 No comment FANCI 98.29 0 No comment FAR1 97.96 0 No comment FARS2 99.13 0 No comment FASN 99.66 0 No comment FAT4 99.73 0 No comment FBLN5 97.72 0 No comment FBN1 99.18 0 No comment FBN2 99.13 0 No comment FBP1 99.54 0 No comment FBXL3 98.89 0 No comment FBXL4 99.22 0 No comment FBXO11 98.18 0 No comment FBXO25 98.32 0 No comment FBXO7 99.44 0 No comment FBXO8 99.00 0 No comment FBXW11 98.85 0 No comment FBXW4 98.88 0 No comment FDFT1 96.29 0 No comment FDXR 99.16 0 No comment FEM1B 98.39 0 No comment FGD1 95.65 0 No comment FGD4 97.87 0 No comment FGF10 98.79 0 No comment FGF12 99.23 0 No comment FGF14 99.47 0 No comment FGF3 95.52 0 No comment FGFR1 99.06 0 No comment FGFR2 99.55 0 No comment FGFR3 98.01 0 No comment FH 98.88 0 No comment FHL1 98.74 0 No comment FIBP 99.40 0 No comment FIG4 98.99 0 No comment FKBP14 98.92 0 No comment FKBP6 99.52 0 No comment FKBPL 99.97 0 No comment FKRP 97.44 0 No comment FKTN 98.78 0 No comment FLAD1 99.48 0 No comment FLNA 98.47 0 No comment FLNB 98.87 0 No comment FLT4 98.94 0 No comment FLVCR1 98.36 0 No comment FLVCR2 99.65 0 No comment FMN2 96.08 0 No comment FMR1 96.13 0 No comment FOLR1 99.56 0 No comment FOXC1 91.49 0 No comment FOXC2 93.24 0 No comment FOXE1 88.43 0 No comment FOXE3 70.11 0 No comment FOXF1 98.60 0 No comment FOXG1 78.93 0 No comment FOXN1 99.64 0 No comment FOXP1 98.65 0 No comment FOXP2 98.84 0 No comment FOXP3 95.40 0 No comment FOXRED1 98.46 0 No comment FRAS1 98.89 0 No comment FREM1 99.07 0 No comment FREM2 99.25 0 No comment FRMD7 97.20 0 No comment FRMPD4 97.55 0 No comment FRRS1L 82.94 0 No comment FRY 99.11 0 No comment FTCD 98.94 0 No comment FTL 97.48 0 No comment FTO 99.41 0 No comment FTSJ1 98.72 0 No comment FUCA1 98.66 0 No comment FCSK 99.13 0 No comment FUT8 98.58 0 No comment FXN 96.73 0 No comment FYCO1 99.38 0 No comment FZD3 99.31 0 No comment FZD6 99.22 0 No comment G6PC3 99.48 0 No comment GAA 99.39 0 No comment GAB3 94.68 0 No comment GABBR2 96.86 0 No comment GABRA1 99.65 0 No comment GABRA2 99.34 0 No comment GABRA5 99.43 0 No comment GABRB2 98.99 0 No comment GABRB3 99.65 0 No comment GABRG2 91.85 0 No comment GABRG3 99.67 0 No comment GABRQ 96.87 0 No comment GAD1 99.31 0 No comment GALC 98.53 0 No comment GALE 98.79 0 No comment GALK1 99.12 0 No comment GALNS 98.20 0 No comment GALNT2 99.25 0 No comment GALT 99.67 0 No comment GAMT 98.08 0 No comment GAN 98.97 0 No comment GAS8 98.96 0 No comment GATA2 99.39 0 No comment GATA4 94.57 0 No comment GATA6 90.43 0 No comment GATAD2B 99.84 0 No comment GATM 99.31 0 No comment GBA1 99.80 0 No comment GBA2 99.40 0 No comment GBE1 98.14 0 No comment GCDH 99.26 0 No comment GCH1 98.31 0 No comment GCK 99.00 0 No comment GCSH 98.69 0 No comment GDAP1 99.61 0 No comment GDF5 98.79 0 No comment GDF6 95.02 0 No comment GDI1 96.43 0 No comment GEMIN4 99.84 0 No comment GFAP 99.47 0 No comment GFER 96.28 0 No comment GFM1 98.59 0 No comment GHR 98.44 0 No comment GIGYF2 98.79 0 No comment GJA1 99.86 0 No comment GJA3 98.78 0 No comment GJA8 99.16 0 No comment GJB1 99.27 0 No comment GJB2 99.76 0 No comment GJB3 99.85 0 No comment GJC2 86.86 0 No comment GK 95.46 0 No comment GLB1 99.09 0 No comment GLDC 98.46 0 No comment GLE1 99.11 0 No comment GLI2 98.54 0 No comment GLI3 99.24 0 No comment GLIS3 99.02 0 No comment GLMN 98.58 0 No comment GLRA1 98.32 0 No comment GLRA2 91.37 0 No comment GLUD1 97.56 0 No comment GLUL 99.52 0 No comment GLYCTK 99.68 0 No comment GM2A 99.64 0 No comment GMNN 96.21 0 No comment GMPPA 99.75 0 No comment GMPPB 98.26 0 No comment GNAI1 98.99 0 No comment GNAI2 98.07 0 No comment GNAI3 97.86 0 No comment GNAL 97.43 0 No comment GNAO1 98.80 0 No comment GNAS 99.61 0 No comment GNB1 98.37 0 No comment GNB5 99.14 0 No comment GNE 99.40 0 No comment GNPAT 96.78 0 No comment GNPTAB 99.40 0 No comment GNPTG 97.82 0 No comment GNS 99.15 0 No comment GON4L 99.53 0 No comment GORAB 98.74 0 No comment GOSR2 99.40 0 No comment GOT2 99.15 0 No comment GPAA1 99.20 0 No comment GPC3 95.93 0 No comment GPC4 97.39 0 No comment GPHN 99.23 0 No comment ADGRG4 98.24 0 No comment ADGRG6 98.33 0 No comment GPR179 99.76 0 No comment ADGRG1 99.61 0 No comment ADGRV1 98.49 0 No comment GPRASP1 99.60 0 No comment GPSM2 98.63 0 No comment GPT2 95.94 0 No comment GRB14 97.87 0 No comment GRHL3 98.78 0 No comment GRIA1 98.02 0 No comment GRIA2 98.58 0 No comment GRIA3 92.43 0 No comment GRIA4 98.61 0 No comment GRID2 99.29 0 No comment GRIK2 99.11 0 No comment GRIN1 99.26 0 No comment GRIN2A 99.71 0 No comment GRIN2B 99.64 0 No comment GRIN2D 78.36 0 No comment GRIP1 99.51 0 No comment GRM1 98.88 0 No comment GRM6 93.42 0 No comment GRN 99.81 0 No comment GSPT2 99.68 0 No comment GSS 99.18 0 No comment GSX2 99.55 0 No comment GTF2E2 98.84 0 No comment GTF2H5 98.97 0 No comment GTF3C3 98.70 0 No comment GTPBP2 98.27 0 No comment GTPBP3 98.65 0 No comment GTPBP8 98.83 0 No comment GUCY2C 99.16 0 No comment GUSB 98.83 0 No comment GYS2 99.38 0 No comment H3-3A 99.28 0 No comment H3-3B 99.69 0 No comment HACE1 98.93 0 No comment HADH 98.21 0 No comment HADHA 99.44 0 No comment HADHB 99.06 0 No comment HARS2 97.76 0 No comment HAUS7 95.60 0 No comment HAX1 99.52 0 No comment HCCS 97.34 0 No comment HCFC1 97.80 0 No comment HCN1 98.04 0 No comment HDAC4 99.39 0 No comment HDAC6 97.59 0 No comment HDAC8 97.78 0 No comment PUDP 97.74 0 No comment HECW2 98.89 0 No comment HEPACAM 98.19 0 No comment HERC1 99.17 0 No comment HERC2 99.81 0 No comment HESX1 99.33 0 No comment HEXA 99.52 0 No comment HEXB 98.68 0 No comment HGSNAT 93.69 0 No comment HIBCH 99.31 0 No comment HINT1 99.52 0 No comment H1-4 98.83 0 No comment H4C2 99.68 0 No comment H4C3 99.67 0 No comment H4C11 99.75 0 No comment H3-4 99.95 0 No comment HIVEP2 99.83 0 No comment HK1 99.43 0 No comment HLCS 95.35 0 No comment HMGB3 95.15 0 No comment HMGCL 99.25 0 No comment HMGCS2 98.52 0 No comment HNF1B 99.68 0 No comment HNF4A 99.42 0 No comment HNMT 99.40 0 No comment HNRNPH2 98.98 0 No comment HNRNPK 99.14 0 No comment HNRNPR 99.29 0 No comment HNRNPU 99.13 0 No comment HOXA1 99.10 0 No comment HOXA13 75.31 0 No comment HOXC13 98.67 0 No comment HOXD10 99.56 0 No comment HOXD13 96.00 0 No comment HPD 99.12 0 No comment HPGD 98.68 0 No comment HPRT1 91.01 0 No comment HPS1 98.99 0 No comment HPSE2 99.23 0 No comment HR 98.73 0 No comment HRAS 99.96 0 No comment HS6ST2 98.48 0 No comment HSD17B10 99.12 0 No comment HSD17B4 98.53 0 No comment HSD3B7 93.20 0 No comment HSF4 98.76 0 No comment HSPD1 99.48 0 No comment HSPG2 99.24 0 No comment HTRA2 98.32 0 No comment HTT 98.29 0 No comment HUWE1 96.58 0 No comment HYAL1 99.27 0 No comment HYDIN 98.89 0 No comment HYLS1 99.56 0 No comment IARS1 98.84 0 No comment IARS2 98.71 0 No comment IBA57 96.07 0 No comment IDH2 94.56 0 No comment IDS 97.02 0 No comment IDUA 94.91 0 No comment IER3IP1 98.58 0 No comment IFIH1 98.73 0 No comment IFITM5 99.18 0 No comment IFNAR2 99.17 0 No comment IFT122 98.98 0 No comment IFT140 99.19 0 No comment IFT172 99.43 0 No comment IFT27 99.45 0 No comment IFT43 99.37 0 No comment IFT80 98.80 0 No comment IGBP1 98.38 0 No comment IGF1 98.50 0 No comment IGF1R 99.32 0 No comment IGF2 98.94 0 No comment IGHMBP2 99.36 0 No comment IGSF1 95.84 0 No comment IHH 98.73 0 No comment IKBKG 96.16 0 No comment IL11RA 99.17 0 No comment IL1RAPL1 97.07 0 No comment IL1RAPL2 97.20 0 No comment IL3RA 99.85 0 No comment ILF2 99.02 0 No comment BPNT2 99.21 0 No comment INF2 94.80 0 No comment INPP4A 99.16 0 No comment INPP5E 98.98 0 No comment INPP5K 99.11 0 No comment INPPL1 98.07 0 No comment INSR 96.93 0 No comment INTS1 99.07 0 No comment INTS6 98.76 0 No comment INTS8 97.79 0 No comment IQSEC1 96.84 0 No comment IQSEC2 88.71 0 No comment IQSEC3 99.28 0 No comment IRAK1 94.66 0 No comment IRF2BPL 97.48 0 No comment IRF6 98.80 0 No comment IRX5 98.01 0 No comment ISCA2 99.85 0 No comment CRPPA 86.74 0 No comment ITCH 94.90 0 No comment ITGA3 99.19 0 No comment ITGA4 96.65 0 No comment ITGA7 99.02 0 No comment ITGB6 99.17 0 No comment ITIH6 96.21 0 No comment ITPA 99.87 0 No comment ITPR1 98.49 0 No comment IVD 99.26 0 No comment JAG1 99.05 0 No comment JAGN1 99.34 0 No comment JAK3 98.80 0 No comment JAM3 98.99 0 No comment KANK1 98.55 0 No comment KANSL1 99.38 0 No comment KARS1 99.19 0 No comment KAT5 99.33 0 No comment KAT6A 99.45 0 No comment KAT6B 99.14 0 No comment KAT8 96.84 0 No comment KATNAL2 99.21 0 No comment KATNB1 99.24 0 No comment KBTBD13 98.92 0 No comment KCNA1 99.84 0 No comment KCNA2 99.87 0 No comment KCNB1 99.55 0 No comment KCNC1 99.57 0 No comment KCNC3 79.69 0 No comment KCND1 97.45 0 No comment KCND3 99.47 0 No comment KCNE1 99.99 0 No comment KCNH1 99.06 0 No comment KCNH5 98.52 0 No comment KCNJ10 99.06 0 No comment KCNJ11 99.50 0 No comment KCNJ6 99.58 0 No comment KCNK12 94.89 0 No comment KCNK4 98.87 0 No comment KCNK9 99.78 0 No comment KCNMA1 98.89 0 No comment KCNN3 99.58 0 No comment KCNQ1 94.82 0 No comment KCNQ2 98.91 0 No comment KCNQ3 97.63 0 No comment KCNQ5 98.24 0 No comment KCNT1 98.83 0 No comment KCNT2 98.81 0 No comment KCTD1 99.70 0 No comment KCTD3 99.34 0 No comment KCTD7 98.45 0 No comment KDM1A 97.93 0 No comment KDM3B 98.22 0 No comment KDM5A 99.06 0 No comment KDM5B 98.98 0 No comment KDM5C 98.12 0 No comment KDM6A 95.37 0 No comment KDM6B 97.67 0 No comment TMEM94 99.37 0 No comment WASHC5 98.20 0 No comment RUBCN 99.10 0 No comment KIAA0586 93.75 0 No comment KIAA1109 98.44 0 No comment KIFBP 99.27 0 No comment RIC1 99.07 0 No comment LNPK 99.07 0 No comment NEXMIF 99.59 0 No comment KIDINS220 99.40 0 No comment KIF11 98.60 0 No comment KIF14 98.97 0 No comment KIF1A 99.09 0 No comment KIF1C 99.18 0 No comment KIF21A 98.56 0 No comment KIF22 98.71 0 No comment KIF26B 99.62 0 No comment KIF2A 98.32 0 No comment KIF4A 96.82 0 No comment KIF5A 97.77 0 No comment KIF5C 96.11 0 No comment KIF7 96.34 0 No comment KIRREL3 98.99 0 No comment KIT 99.30 0 No comment KLF1 99.27 0 No comment KLF7 99.57 0 No comment KLF8 96.17 0 No comment KLHL15 99.48 0 No comment KLHL21 97.63 0 No comment KLHL34 97.50 0 No comment KLHL4 96.56 0 No comment KLHL40 99.52 0 No comment KLHL7 99.04 0 No comment KMT2A 98.08 0 No comment KMT2B 96.01 0 No comment KMT2C 99.21 0 No comment KMT2D 99.70 0 No comment KMT2E 98.57 0 No comment KPTN 98.80 0 No comment KRAS 97.27 0 No comment KRIT1 98.55 0 No comment L1CAM 97.47 0 No comment L2HGDH 98.33 0 No comment LAMA1 99.36 0 No comment LAMA2 99.11 0 No comment LAMB1 99.38 0 No comment LAMB2 99.40 0 No comment LAMC3 97.47 0 No comment LAMP2 95.99 0 No comment LARGE1 99.44 0 No comment LARP7 97.05 0 No comment LARS2 99.25 0 No comment LAS1L 98.38 0 No comment LBR 99.13 0 No comment LDB3 95.69 0 No comment LEMD3 98.30 0 No comment P3H1 99.32 0 No comment LFNG 80.45 0 No comment LGI1 99.81 0 No comment LGI4 99.14 0 No comment LHFPL3 95.05 0 No comment LHX3 99.03 0 No comment LHX4 99.11 0 No comment LIAS 98.84 0 No comment LIG4 99.71 0 No comment LIMK1 99.08 0 No comment LINGO1 99.68 0 No comment LINS1 98.96 0 No comment LIPT1 98.07 0 No comment LIPT2 97.11 0 No comment LITAF 99.34 0 No comment LMAN2L 99.15 0 No comment LMBRD1 96.71 0 No comment LMNA 98.89 0 No comment LMX1B 99.74 0 No comment LONP1 99.06 0 No comment LOXHD1 99.14 0 No comment LRAT 99.56 0 No comment LRP1 98.97 0 No comment LRP2 99.08 0 No comment LRP4 98.69 0 No comment LRP5 97.97 0 No comment LRPPRC 98.65 0 No comment LRRC32 99.45 0 No comment DNAAF11 99.52 0 No comment LRRK1 99.22 0 No comment LRRK2 98.24 0 No comment LSS 99.87 0 No comment LTBP2 98.85 0 No comment LTBP3 98.16 0 No comment LYRM7 95.36 0 No comment LYST 98.97 0 No comment LZTFL1 98.88 0 No comment LZTR1 99.05 0 No comment MAB21L1 99.89 0 No comment MAB21L2 99.46 0 No comment MACC1 99.56 0 No comment MACF1 98.64 0 No comment MADD 98.87 0 No comment MAF 78.51 0 No comment MAFB 99.20 0 No comment MAGEA11 99.42 0 No comment MAGEB1 99.65 0 No comment MAGEB10 99.72 0 No comment MAGEB2 99.51 0 No comment MAGEC1 98.27 0 No comment MAGEC3 96.41 0 No comment MAGED1 97.72 0 No comment MAGEL2 99.77 0 No comment MAGI2 92.15 0 No comment MAGIX 91.35 0 No comment MAGT1 95.72 0 No comment MAN1B1 97.68 0 No comment MAN2B1 98.69 0 No comment MANBA 98.99 0 No comment MAOA 92.59 0 No comment MAOB 96.46 0 No comment MAP1B 99.62 0 No comment MAP2K1 98.93 0 No comment MAP2K2 99.30 0 No comment MAP3K1 93.46 0 No comment MAP3K15 81.00 0 No comment MAP3K7 98.96 0 No comment MAP7D3 93.50 0 No comment MAPK10 99.23 0 No comment MAPK8IP3 99.17 0 No comment MAPRE2 99.34 0 No comment MAPT 99.44 0 No comment MASP1 99.32 0 No comment MAST1 98.94 0 No comment MAT1A 99.31 0 No comment MATN3 94.73 0 No comment MBD5 99.80 0 No comment MBNL3 97.64 0 No comment MBOAT7 99.23 0 No comment MBTPS2 97.35 0 No comment MC2R 99.83 0 No comment MCCC1 99.36 0 No comment MCCC2 99.42 0 No comment MCEE 99.73 0 No comment MCM3AP 99.17 0 No comment MCM9 99.49 0 No comment MCOLN1 98.09 0 No comment MCPH1 97.71 0 No comment MDH2 99.26 0 No comment MECP2 89.64 0 No comment MECR 98.83 0 No comment MED12 97.94 0 No comment MED12L 98.99 0 No comment MED13 98.50 0 No comment MED13L 99.39 0 No comment MED17 98.61 0 No comment MED23 98.85 0 No comment MED25 97.95 0 No comment MEF2C 99.19 0 No comment MEGF10 98.25 0 No comment MEGF8 99.01 0 No comment MEIS2 99.60 0 No comment MESP2 98.01 0 No comment MET 99.32 0 No comment METTL23 99.70 0 No comment METTL5 94.29 0 No comment MFF 98.90 0 No comment MFRP 98.32 0 No comment MFSD2A 98.61 0 No comment MFSD8 99.49 0 No comment MGAT2 99.31 0 No comment MGAT5B 98.30 0 No comment MGP 99.47 0 No comment MIB1 98.13 0 No comment MICU1 99.39 0 No comment MID1 98.26 0 No comment MITF 99.17 0 No comment MKKS 99.47 0 No comment MKS1 98.74 0 No comment MLC1 98.91 0 No comment MLH1 98.70 0 No comment MLYCD 94.43 0 No comment MMAA 98.59 0 No comment MMAB 99.44 0 No comment MMACHC 99.23 0 No comment MMADHC 98.97 0 No comment MMP13 98.47 0 No comment MMP21 97.96 0 No comment MN1 99.12 0 No comment MNX1 68.62 0 No comment MOCS1 99.12 0 No comment MOCS2 99.33 0 No comment MOGS 98.80 0 No comment MORC4 92.98 0 No comment MPDU1 97.72 0 No comment MPDZ 99.06 0 No comment MPI 99.09 0 No comment MPLKIP 99.41 0 No comment MPV17 99.32 0 No comment MPZ 99.26 0 No comment MRAP 99.40 0 No comment MRE11 98.82 0 No comment MRPS22 99.08 0 No comment MRPS34 97.34 0 No comment MSL3 95.17 0 No comment MSMO1 98.59 0 No comment MSX1 98.22 0 No comment MSX2 99.75 0 No comment MTF1 98.69 0 No comment MTFMT 98.17 0 No comment MTHFR 97.78 0 No comment MTM1 96.15 0 No comment MTMR1 88.31 0 No comment MTMR14 99.36 0 No comment MTMR2 98.85 0 No comment MTMR8 95.90 0 No comment MTO1 93.67 0 No comment MTOR 98.53 0 No comment MTPAP 98.83 0 No comment MTR 99.25 0 No comment MTRR 99.33 0 No comment MTTP 99.03 0 No comment MMUT 98.64 0 No comment MVK 99.52 0 No comment MXRA5 98.86 0 No comment MYBPC1 98.08 0 No comment MYCN 90.97 0 No comment MYH10 99.14 0 No comment MYH3 99.61 0 No comment MYH6 99.58 0 No comment MYH8 99.84 0 No comment MYH9 99.50 0 No comment MYO1D 99.24 0 No comment MYO1G 98.28 0 No comment MYO5A 98.89 0 No comment MYO5B 98.83 0 No comment MYO7A 99.30 0 No comment MYT1L 99.61 0 No comment NAA10 97.29 0 No comment NAA15 96.88 0 No comment NACC1 99.36 0 No comment NADK2 90.73 0 No comment NAGA 99.05 0 No comment NAGLU 92.35 0 No comment NAGS 99.13 0 No comment NALCN 99.30 0 No comment NANS 99.57 0 No comment NBAS 99.15 0 No comment NBEA 98.46 0 No comment NBN 98.71 0 No comment NCAPD2 99.26 0 No comment NCAPG2 98.85 0 No comment NCAPH 96.78 0 No comment NCKAP1 98.92 0 No comment NDE1 99.73 0 No comment NDN 97.93 0 No comment NDP 98.16 0 No comment NDRG1 99.86 0 No comment NDST1 99.02 0 No comment NDUFA1 98.51 0 No comment NDUFA10 99.01 0 No comment NDUFA11 90.58 0 No comment NDUFA12 99.80 0 No comment NDUFA9 98.99 0 No comment NDUFAF1 99.39 0 No comment NDUFAF2 98.80 0 No comment NDUFAF3 99.67 0 No comment NDUFAF5 99.09 0 No comment NDUFS1 98.99 0 No comment NDUFS2 97.41 0 No comment NDUFS3 99.78 0 No comment NDUFS4 97.48 0 No comment NDUFS7 99.69 0 No comment NDUFS8 98.57 0 No comment NDUFV1 99.26 0 No comment NEB 99.00 0 No comment NECAB2 87.19 0 No comment NECAP1 99.07 0 No comment NEDD4L 98.42 0 No comment NEK1 98.94 0 No comment NEU1 99.97 0 No comment NF1 98.44 0 No comment NFASC 98.10 0 No comment NFIA 97.99 0 No comment NFIB 98.14 0 No comment NFIX 97.92 0 No comment NFU1 99.67 0 No comment NGF 98.59 0 No comment NGLY1 99.36 0 No comment NHEJ1 99.58 0 No comment NHLRC1 99.86 0 No comment NHP2 99.45 0 No comment NHS 96.49 0 No comment NIPA1 90.55 0 No comment NIPBL 98.60 0 No comment NKAP 96.73 0 No comment NKX2-1 97.75 0 No comment NKX2-5 99.63 0 No comment NKX3-2 98.37 0 No comment NLGN3 98.40 0 No comment NLGN4X 99.13 0 No comment NLRP3 98.99 0 No comment NMNAT1 97.99 0 No comment NODAL 99.40 0 No comment NOG 99.12 0 No comment NONO 96.77 0 No comment NOP56 99.35 0 No comment NOTCH2 99.27 0 No comment NOVA2 89.97 0 No comment NPC1 98.89 0 No comment NPC2 99.66 0 No comment NPHP1 99.51 0 No comment NPHP3 98.74 0 No comment NPHP4 99.19 0 No comment NPHS1 99.44 0 No comment NPHS2 97.80 0 No comment NPR2 99.34 0 No comment NPR3 90.56 0 No comment NR1I3 99.14 0 No comment NR2F1 90.07 0 No comment NR2F2 98.87 0 No comment NR4A2 99.44 0 No comment NR5A1 97.66 0 No comment NRAS 98.92 0 No comment NRK 96.60 0 No comment NRROS 99.89 0 No comment NRXN1 99.17 0 No comment NRXN2 95.11 0 No comment NRXN3 99.23 0 No comment NSD1 98.92 0 No comment NSDHL 98.64 0 No comment NSF 98.09 0 No comment NSUN2 98.86 0 No comment NT5C2 98.94 0 No comment NT5C3A 98.92 0 No comment NTM 98.61 0 No comment NTNG1 99.58 0 No comment NTNG2 93.49 0 No comment NTRK1 98.79 0 No comment NTRK2 99.23 0 No comment NUBPL 99.17 0 No comment NUDT2 99.10 0 No comment NUP107 97.33 0 No comment NUP188 98.99 0 No comment NUP62 99.65 0 No comment NUS1 97.85 0 No comment NXF5 99.08 0 No comment NYX 92.34 0 No comment OBSL1 98.23 0 No comment OCLN 99.53 0 No comment OCRL 95.55 0 No comment ODC1 99.36 0 No comment ODF2L 97.74 0 No comment OFD1 93.09 0 No comment OGT 96.02 0 No comment OPA3 99.11 0 No comment OPHN1 93.40 0 No comment OR5M1 99.56 0 No comment ORC1 98.75 0 No comment ORC4 98.23 0 No comment ORC6 98.12 0 No comment OSGEP 99.20 0 No comment OTC 94.39 0 No comment OTOGL 91.23 0 No comment OTUD6B 97.21 0 No comment OTUD7A 84.64 0 No comment OTX2 99.74 0 No comment OXCT1 98.14 0 No comment P2RY4 99.46 0 No comment P2RY8 99.54 0 No comment P4HB 99.48 0 No comment P4HTM 95.19 0 No comment PABPC5 99.77 0 No comment PACS1 97.81 0 No comment PACS2 97.16 0 No comment PAFAH1B1 99.12 0 No comment PAH 99.36 0 No comment PAK1 89.41 0 No comment PAK3 93.85 0 No comment PALB2 99.35 0 No comment PANK2 98.65 0 No comment PAPSS2 97.09 0 No comment PRKN 99.61 0 No comment PARK7 98.71 0 No comment PARN 99.92 0 No comment PARP1 99.23 0 No comment PASD1 96.99 0 No comment PAX2 98.63 0 No comment PAX3 99.47 0 No comment PAX6 99.12 0 No comment PAX7 98.68 0 No comment PAX8 99.37 0 No comment PAX9 99.60 0 No comment PBRM1 99.04 0 No comment PBX1 98.79 0 No comment PC 99.26 0 No comment PCBD1 98.19 0 No comment PCCA 99.09 0 No comment PCCB 98.35 0 No comment PCDH10 99.56 0 No comment PCDH12 99.87 0 No comment PCDH19 99.27 0 No comment PCGF2 89.24 0 No comment PCLO 99.20 0 No comment PCNT 98.96 0 No comment PCYT1A 99.37 0 No comment PCYT2 93.96 0 No comment PDCD10 97.57 0 No comment PDE10A 99.49 0 No comment PDE4D 97.01 0 No comment PDE6D 99.57 0 No comment PDE6G 99.28 0 No comment PDGFB 99.27 0 No comment PDGFRB 98.98 0 No comment PDHA1 93.13 0 No comment PDHX 97.66 0 No comment PDSS1 88.79 0 No comment PDSS2 98.91 0 No comment PDYN 97.60 0 No comment PECR 98.78 0 No comment PEPD 99.16 0 No comment PET100 99.52 0 No comment PEX1 98.65 0 No comment PEX10 94.24 0 No comment PEX11B 98.16 0 No comment PEX12 98.98 0 No comment PEX13 99.29 0 No comment PEX14 99.37 0 No comment PEX16 99.69 0 No comment PEX19 98.79 0 No comment PEX2 99.69 0 No comment PEX26 98.07 0 No comment PEX3 98.18 0 No comment PEX5 98.49 0 No comment PEX6 98.82 0 No comment PEX7 98.38 0 No comment PGAP1 97.38 0 No comment PGAP2 99.62 0 No comment PGAP3 97.87 0 No comment PGK1 98.42 0 No comment PGM1 98.11 0 No comment PGM3 99.56 0 No comment PGRMC1 98.26 0 No comment PHACTR1 89.43 0 No comment PHC1 99.13 0 No comment PHF10 95.41 0 No comment PHF21A 98.68 0 No comment PHF6 87.29 0 No comment PHF8 98.16 0 No comment PHGDH 99.24 0 No comment PHIP 98.39 0 No comment PHKA1 96.26 0 No comment PHKA2 95.35 0 No comment PHKG2 99.76 0 No comment PHOX2B 94.35 0 No comment PIEZO2 98.61 0 No comment PIGA 96.21 0 No comment PIGB 99.29 0 No comment PIGC 99.49 0 No comment PIGG 99.35 0 No comment PIGH 99.72 0 No comment PIGK 97.34 0 No comment PIGL 99.60 0 No comment PIGN 97.35 0 No comment PIGO 99.30 0 No comment PIGP 97.65 0 No comment PIGQ 99.47 0 No comment PIGS 99.30 0 No comment PIGT 99.18 0 No comment PIGU 96.64 0 No comment PIGV 99.64 0 No comment PIGW 99.86 0 No comment PIGY 98.77 0 No comment PIK3C2A 98.95 0 No comment PIK3C3 98.08 0 No comment PIK3CA 98.58 0 No comment PIK3R1 98.70 0 No comment PIK3R2 92.16 0 No comment PIN4 94.34 0 No comment PINK1 96.58 0 No comment PITRM1 99.18 0 No comment PITX2 98.79 0 No comment PITX3 99.21 0 No comment PJA1 99.79 0 No comment PKD1L1 99.32 0 No comment PKHD1 99.32 0 No comment PLA2G6 99.38 0 No comment PLAA 99.25 0 No comment PLCB1 98.83 0 No comment PLCE1 98.80 0 No comment PLCXD1 96.54 0 No comment PLEC 99.59 0 No comment PLEKHG2 99.01 0 No comment PLK4 98.64 0 No comment PLOD1 98.15 0 No comment PLOD2 98.29 0 No comment PLOD3 98.92 0 No comment PLP1 98.91 0 No comment PLXNB3 98.08 0 No comment PMM2 97.92 0 No comment PMP22 99.70 0 No comment PMPCA 99.22 0 No comment PMPCB 98.76 0 No comment PMS2 98.73 0 No comment PNKD 99.01 0 No comment PNKP 99.38 0 No comment PNP 99.48 0 No comment PNPLA6 99.18 0 No comment PNPO 98.09 0 No comment PNPT1 98.94 0 No comment POC1A 98.69 0 No comment POC1B 98.91 0 No comment POGLUT1 99.01 0 No comment POGZ 99.08 0 No comment POLA1 93.70 0 No comment POLD1 99.32 0 No comment POLG 98.98 0 No comment POLR1C 99.42 0 No comment POLR1D 94.97 0 No comment POLR2A 93.09 0 No comment POLR3A 99.17 0 No comment POLR3B 98.52 0 No comment POMGNT1 98.91 0 No comment POMGNT2 99.93 0 No comment POMT1 99.40 0 No comment POMT2 98.43 0 No comment PORCN 98.49 0 No comment POU1F1 99.20 0 No comment POU3F3 72.47 0 No comment PPA2 98.38 0 No comment PPM1D 98.90 0 No comment PPOX 99.10 0 No comment PPP1CB 99.15 0 No comment PPP1R15B 99.76 0 No comment PPP1R1B 97.58 0 No comment PPP1R21 97.12 0 No comment PPP2CA 99.22 0 No comment PPP2R1A 99.53 0 No comment PPP2R2B 99.49 0 No comment PPP2R5D 99.23 0 No comment PPP3CA 97.94 0 No comment PPT1 99.42 0 No comment PQBP1 98.03 0 No comment PRDM12 87.59 0 No comment PRDX4 76.26 0 No comment PREPL 99.18 0 No comment PRICKLE1 99.56 0 No comment PRICKLE2 99.38 0 No comment PRICKLE3 96.71 0 No comment PRKAR1A 99.58 0 No comment PRKCG 99.43 0 No comment PRKD1 98.77 0 No comment PRKRA 99.26 0 No comment PRMT9 98.98 0 No comment PRMT7 98.06 0 No comment PRODH 98.11 0 No comment PROP1 99.63 0 No comment PLPBP 95.56 0 No comment PROX2 99.44 0 No comment PRPS1 95.38 0 No comment PRR12 98.27 0 No comment PRRG1 94.01 0 No comment PRRG3 97.85 0 No comment PRRT2 99.50 0 No comment PRSS12 99.22 0 No comment PRSS56 98.31 0 No comment PRUNE1 99.16 0 No comment PRX 99.79 0 No comment PSAP 99.57 0 No comment PSAT1 99.42 0 No comment PSEN1 99.47 0 No comment PSMA7 92.67 0 No comment PSMB8 99.96 0 No comment PSMD10 98.66 0 No comment PSMD12 99.46 0 No comment PSPH 99.39 0 No comment PTCH1 98.24 0 No comment PTCHD1 99.55 0 No comment PTDSS1 99.53 0 No comment PTEN 97.06 0 No comment PTF1A 84.73 0 No comment PTH1R 99.36 0 No comment PTHLH 99.63 0 No comment PTPN11 98.87 0 No comment PTPN21 99.21 0 No comment PTPN23 99.40 0 No comment PTRH2 99.69 0 No comment PTRHD1 99.61 0 No comment PTS 97.89 0 No comment PUF60 99.63 0 No comment PUM1 98.63 0 No comment PURA 95.31 0 No comment PUS1 93.61 0 No comment PUS3 99.35 0 No comment PUS7 99.26 0 No comment NECTIN1 99.41 0 No comment PYCR1 99.44 0 No comment PYCR2 98.91 0 No comment PYGL 99.15 0 No comment QARS1 99.24 0 No comment QDPR 99.29 0 No comment QKI 99.00 0 No comment QRICH1 99.47 0 No comment RAB11A 99.26 0 No comment RAB11B 99.79 0 No comment RAB18 98.52 0 No comment RAB23 98.94 0 No comment RAB27A 96.61 0 No comment RAB39B 99.40 0 No comment RAB3GAP1 98.90 0 No comment RAB3GAP2 99.12 0 No comment RAB40AL 99.76 0 No comment RABL6 99.51 0 No comment RAC1 98.23 0 No comment NCOA3 95.06 0 No comment RAD21 98.41 0 No comment RAD50 97.32 0 No comment RAD51 86.56 0 No comment RAD51C 98.85 0 No comment RAF1 99.16 0 No comment RAI1 99.61 0 No comment RALA 96.03 0 No comment RALGAPA1 98.41 0 No comment RALGDS 95.93 0 No comment RANBP17 98.36 0 No comment RANBP2 99.68 0 No comment RAPGEF1 99.41 0 No comment RAPSN 99.04 0 No comment RARB 99.38 0 No comment RARS1 97.45 0 No comment RARS2 99.01 0 No comment RASA1 97.27 0 No comment RAX 93.04 0 No comment RBBP8 97.45 0 No comment RBFOX1 97.68 0 No comment RBL2 98.08 0 No comment RBM10 97.07 0 No comment RBM28 99.52 0 No comment RBM8A 99.76 0 No comment RBPJ 99.63 0 No comment RECQL4 98.44 0 No comment REEP1 98.11 0 No comment REEP2 98.01 0 No comment RELN 99.14 0 No comment RENBP 93.79 0 No comment RERE 97.47 0 No comment RET 98.30 0 No comment RFT1 97.40 0 No comment RFX6 98.63 0 No comment RTL9 99.02 0 No comment RGN 96.72 0 No comment RGS7 99.42 0 No comment RHEB 99.03 0 No comment RHOBTB2 98.98 0 No comment RIMS1 98.15 0 No comment RIPK4 99.54 0 No comment RIT1 99.28 0 No comment RLIM 99.09 0 No comment RMND1 99.20 0 No comment RNASEH2A 99.80 0 No comment RNASEH2B 94.50 0 No comment RNASEH2C 99.62 0 No comment RNASET2 99.20 0 No comment RNF113A 99.44 0 No comment RNF125 98.59 0 No comment RNF13 97.23 0 No comment RNF135 98.54 0 No comment RNF168 99.46 0 No comment RNF216 99.40 0 No comment ROBO3 98.40 0 No comment ROGDI 96.44 0 No comment ROR2 97.79 0 No comment RORA 99.37 0 No comment RORB 99.16 0 No comment RPE65 99.50 0 No comment RPGR 91.56 0 No comment RPGRIP1 98.66 0 No comment RPGRIP1L 95.87 0 No comment RPIA 97.45 0 No comment RPL10 97.70 0 No comment RPS19 98.91 0 No comment RPS23 99.81 0 No comment RPS6KA3 91.96 0 No comment RRAS 94.70 0 No comment RRM2B 98.76 0 No comment RSPH1 99.58 0 No comment RSPH3 99.23 0 No comment RSPO4 99.59 0 No comment RSPRY1 98.70 0 No comment RSRC1 94.18 0 No comment RTEL1 99.53 0 No comment RTN2 99.37 0 No comment RTN4IP1 98.71 0 No comment RTTN 98.24 0 No comment RUNX2 99.01 0 No comment RUSC2 99.39 0 No comment RYR1 97.61 0 No comment RYR3 99.20 0 No comment SACS 99.78 0 No comment SALL1 99.82 0 No comment SALL4 99.82 0 No comment SAMD9 99.90 0 No comment SAMHD1 99.51 0 No comment SARS2 99.19 0 No comment SATB1 99.00 0 No comment SATB2 99.38 0 No comment SBDS 99.45 0 No comment SBF1 99.15 0 No comment SBF2 98.85 0 No comment SC5D 98.71 0 No comment SCAF4 98.85 0 No comment SCAMP5 99.20 0 No comment SCAPER 98.60 0 No comment SCARB2 99.18 0 No comment SCARF2 93.83 0 No comment SCN11A 98.88 0 No comment SCN1A 98.90 0 No comment SCN1B 95.08 0 No comment SCN2A 99.00 0 No comment SCN3A 99.17 0 No comment SCN4A 98.53 0 No comment SCN8A 96.15 0 No comment SCN9A 98.95 0 No comment SCO1 99.42 0 No comment SCO2 95.41 0 No comment SCRIB 99.36 0 No comment SCYL1 98.07 0 No comment SDCCAG8 99.21 0 No comment SDHA 98.78 0 No comment SDHAF1 95.67 0 No comment SEC23B 98.95 0 No comment SEC31A 98.89 0 No comment SEPSECS 98.34 0 No comment SERAC1 98.92 0 No comment SET 99.64 0 No comment SETBP1 96.95 0 No comment SETD1A 98.37 0 No comment SETD1B 95.43 0 No comment SETD2 99.04 0 No comment SETD5 99.01 0 No comment SETDB2 98.15 0 No comment SETX 99.48 0 No comment SF3B4 98.95 0 No comment SGCA 99.28 0 No comment SGCE 93.44 0 No comment SGPL1 98.02 0 No comment SGSH 99.56 0 No comment SH3PXD2B 98.34 0 No comment SH3TC2 99.47 0 No comment SHANK1 95.42 0 No comment SHANK2 95.90 0 No comment SHANK3 84.05 0 No comment SHH 97.41 0 No comment SHOC2 98.50 0 No comment SHOX 99.66 0 No comment SHROOM2 96.54 0 No comment SHROOM4 98.99 0 No comment SIGMAR1 99.83 0 No comment SIK1 99.55 0 No comment SIL1 99.44 0 No comment SIN3A 99.40 0 No comment SIX1 99.50 0 No comment SIX3 98.04 0 No comment SIX5 96.91 0 No comment SKI 94.70 0 No comment SKIC2 99.87 0 No comment SLC12A5 98.41 0 No comment SLC12A6 98.39 0 No comment SLC13A5 98.63 0 No comment SLC16A2 99.13 0 No comment SLC17A5 98.11 0 No comment SLC19A3 98.65 0 No comment SLC1A1 99.06 0 No comment SLC1A2 98.81 0 No comment SLC1A4 99.04 0 No comment SLC20A2 98.04 0 No comment SLC22A5 99.51 0 No comment SLC25A1 93.07 0 No comment SLC25A12 98.89 0 No comment SLC25A13 99.00 0 No comment SLC25A15 99.02 0 No comment SLC25A19 98.60 0 No comment SLC25A20 96.95 0 No comment SLC25A22 98.89 0 No comment SLC25A24 99.54 0 No comment SLC25A26 99.04 0 No comment SLC25A38 99.44 0 No comment SLC25A53 99.18 0 No comment SLC25A6 93.97 0 No comment SLC26A2 99.60 0 No comment SLC26A9 98.51 0 No comment SLC27A4 99.39 0 No comment SLC2A1 99.21 0 No comment SLC2A10 99.62 0 No comment SLC2A2 98.55 0 No comment SLC30A9 98.53 0 No comment SLC31A1 98.80 0 No comment SLC33A1 98.15 0 No comment SLC35A1 98.63 0 No comment SLC35A2 98.33 0 No comment SLC35A3 98.16 0 No comment SLC35C1 99.23 0 No comment SLC35D1 97.31 0 No comment SLC39A13 99.08 0 No comment SLC39A14 99.48 0 No comment SLC39A8 99.08 0 No comment SLC45A1 99.36 0 No comment SLC46A1 99.30 0 No comment SLC4A1 95.32 0 No comment SLC4A11 99.30 0 No comment SLC4A4 98.81 0 No comment SLC52A3 99.86 0 No comment SLC5A2 99.60 0 No comment SLC5A5 98.75 0 No comment SLC5A6 99.13 0 No comment SLC5A7 99.53 0 No comment SLC6A1 98.74 0 No comment SLC6A17 98.68 0 No comment SLC6A19 99.55 0 No comment SLC6A3 99.88 0 No comment SLC6A4 99.05 0 No comment SLC6A5 99.35 0 No comment SLC6A8 91.92 0 No comment SLC6A9 99.08 0 No comment SLC7A7 99.58 0 No comment SLC9A6 89.27 0 No comment SLC9A9 98.10 0 No comment SLX4 99.16 0 No comment SMAD3 98.93 0 No comment SMAD4 99.09 0 No comment SMARCA1 93.45 0 No comment SMARCA2 96.71 0 No comment SMARCA4 98.96 0 No comment SMARCAL1 99.40 0 No comment SMARCB1 99.67 0 No comment SMARCC1 98.91 0 No comment SMARCC2 98.49 0 No comment SMARCD1 98.02 0 No comment SMARCD2 89.27 0 No comment SMARCD3 95.19 0 No comment SMARCE1 99.13 0 No comment SMC1A 97.63 0 No comment SMC3 98.43 0 No comment SMCHD1 96.94 0 No comment SMG9 99.03 0 No comment SMO 97.34 0 No comment SMOC1 99.47 0 No comment SMPD1 99.59 0 No comment SMPD4 99.16 0 No comment SMS 93.00 0 No comment SNAP25 99.07 0 No comment SNAP29 97.81 0 No comment SNCA 99.88 0 No comment SNIP1 99.49 0 No comment SNRPB 99.04 0 No comment SNTG1 99.41 0 No comment SNX14 98.24 0 No comment SNX27 97.42 0 No comment SNX3 97.57 0 No comment SOBP 91.72 0 No comment SON 99.58 0 No comment SOS1 98.49 0 No comment SOS2 98.44 0 No comment SOX10 99.18 0 No comment SOX11 98.67 0 No comment SOX17 99.36 0 No comment SOX2 99.09 0 No comment SOX3 92.70 0 No comment SOX4 92.73 0 No comment SOX5 99.41 0 No comment SOX6 98.79 0 No comment SOX9 98.76 0 No comment SPAG1 92.96 0 No comment SPAST 98.37 0 No comment AFG2A 98.79 0 No comment SPECC1L 99.39 0 No comment SPEG 98.56 0 No comment SPG11 98.94 0 No comment SPART 99.65 0 No comment SPG21 99.56 0 No comment SPG7 97.12 0 No comment SPR 96.31 0 No comment SPRED1 99.02 0 No comment SPRTN 98.90 0 No comment SPRY3 99.98 0 No comment SPTAN1 98.92 0 No comment SPTBN2 99.21 0 No comment SPTLC1 99.27 0 No comment SPTLC2 97.79 0 No comment SRCAP 99.48 0 No comment SRD5A3 99.57 0 No comment SREBF2 98.39 0 No comment SRGAP3 99.31 0 No comment SRP54 98.17 0 No comment SRPX2 97.52 0 No comment SRY 49.45 0 No comment SSR4 96.62 0 No comment ST3GAL3 99.33 0 No comment ST3GAL5 95.14 0 No comment STAB2 99.01 0 No comment STAG1 98.53 0 No comment STAG2 88.40 0 No comment STAMBP 99.15 0 No comment STAR 98.82 0 No comment STARD8 98.62 0 No comment STAT1 99.43 0 No comment STAT5B 99.51 0 No comment STIL 99.10 0 No comment STRA6 98.39 0 No comment STRADA 98.02 0 No comment STS 94.96 0 No comment STT3A 99.15 0 No comment STT3B 97.48 0 No comment STUB1 98.49 0 No comment STX11 99.96 0 No comment STX1B 99.29 0 No comment STX3 99.34 0 No comment STXBP1 99.41 0 No comment SUCLG1 97.18 0 No comment SUFU 97.89 0 No comment SUMF1 99.40 0 No comment SUOX 99.68 0 No comment SURF1 97.97 0 No comment KMT5B 99.52 0 No comment SYN1 90.54 0 No comment SYNCRIP 99.53 0 No comment SYNE1 99.37 0 No comment SYNGAP1 97.57 0 No comment SYNJ1 98.62 0 No comment SYP 98.38 0 No comment SYT1 98.69 0 No comment SYT14 92.68 0 No comment SYTL4 95.73 0 No comment SYTL5 95.65 0 No comment SZT2 99.40 0 No comment TAB2 99.63 0 No comment TACO1 99.03 0 No comment TAF1 96.88 0 No comment TAF13 99.08 0 No comment TAF2 98.77 0 No comment TAF6 98.77 0 No comment TAF7L 96.34 0 No comment TANC2 99.08 0 No comment TANGO2 99.49 0 No comment TAOK1 98.85 0 No comment TARDBP 98.93 0 No comment TAT 99.63 0 No comment TAFAZZIN 98.45 0 No comment TBC1D20 96.79 0 No comment TBC1D23 96.93 0 No comment TBC1D24 99.04 0 No comment TBC1D7 99.38 0 No comment TBC1D8B 94.09 0 No comment TBCD 99.00 0 No comment TBCE 97.65 0 No comment TBCK 98.11 0 No comment TBL1XR1 99.36 0 No comment TBP 94.39 0 No comment TBR1 97.83 0 No comment TBX1 80.23 0 No comment TBX15 99.32 0 No comment TBX20 98.62 0 No comment TBX22 98.45 0 No comment TBX3 99.44 0 No comment TBX4 96.92 0 No comment TBX5 99.04 0 No comment TBXAS1 99.15 0 No comment TCEAL3 98.98 0 No comment TCF12 99.27 0 No comment TCF20 99.92 0 No comment TCF4 98.18 0 No comment TCN2 99.16 0 No comment TCOF1 98.98 0 No comment TCP10L2 96.65 0 No comment TCTN1 99.23 0 No comment TCTN2 98.51 0 No comment TCTN3 99.33 0 No comment TDP2 98.45 0 No comment TECPR2 97.98 0 No comment TECR 99.15 0 No comment TEK 98.69 0 No comment TELO2 98.42 0 No comment TENM1 97.40 0 No comment TERT 97.99 0 No comment TFAP2A 99.10 0 No comment TFAP2B 99.67 0 No comment TFB2M 97.77 0 No comment TFE3 97.18 0 No comment TFG 97.71 0 No comment TGDS 98.69 0 No comment TGFB1 98.69 0 No comment TGFB2 99.24 0 No comment TGFB3 98.80 0 No comment TGFBR1 94.44 0 No comment TGFBR2 99.42 0 No comment TGIF1 99.54 0 No comment TGM6 99.52 0 No comment TH 98.92 0 No comment THAP1 99.83 0 No comment THOC2 95.28 0 No comment THOC6 99.31 0 No comment THRA 98.88 0 No comment THRB 99.50 0 No comment THUMPD1 97.86 0 No comment TIMM50 99.61 0 No comment TIMM8A 98.50 0 No comment TINF2 99.50 0 No comment TK2 96.78 0 No comment TKT 97.27 0 No comment TKTL1 96.74 0 No comment TLK2 98.47 0 No comment TLR8 97.46 0 No comment TM4SF20 99.00 0 No comment TMCO1 94.77 0 No comment TMEM126B 97.26 0 No comment TMEM132E 98.50 0 No comment TMEM135 98.43 0 No comment TMEM165 94.88 0 No comment TMEM216 99.71 0 No comment TMEM231 99.23 0 No comment TMEM237 97.63 0 No comment TMEM240 99.05 0 No comment TMEM260 98.99 0 No comment RXYLT1 98.12 0 No comment TMEM67 96.82 0 No comment TMEM70 99.03 0 No comment TMLHE 95.63 0 No comment TMPRSS6 99.18 0 No comment TMTC3 98.30 0 No comment TMX2 99.71 0 No comment TNIK 98.61 0 No comment TNKS2 98.85 0 No comment TNPO2 99.19 0 No comment TNRC6B 99.23 0 No comment TOE1 99.29 0 No comment TOMM70 98.81 0 No comment TOR1A 99.40 0 No comment TP63 99.19 0 No comment TPH2 99.50 0 No comment TPK1 98.78 0 No comment TPP1 99.55 0 No comment TRAF7 99.15 0 No comment TRAIP 99.21 0 No comment TRAK1 99.03 0 No comment TRAPPC11 99.04 0 No comment TRAPPC12 99.42 0 No comment TRAPPC2 95.98 0 No comment TRAPPC4 99.44 0 No comment TRAPPC6A 98.87 0 No comment TRAPPC6B 98.72 0 No comment TRAPPC9 99.07 0 No comment TREX1 99.86 0 No comment TREX2 96.69 0 No comment TRHR 99.49 0 No comment TRIM32 99.91 0 No comment TRIM37 99.00 0 No comment TRIM8 98.75 0 No comment TRIO 96.38 0 No comment TRIP11 99.09 0 No comment TRIP12 98.93 0 No comment TRIP13 96.31 0 No comment TRIT1 99.11 0 No comment TRMT1 98.51 0 No comment TRMT10A 99.25 0 No comment TRPM1 99.80 0 No comment TRPM3 99.30 0 No comment TRPS1 99.67 0 No comment TRPV4 98.68 0 No comment TRRAP 98.54 0 No comment TSC1 99.22 0 No comment TSC2 98.76 0 No comment TSC22D3 98.85 0 No comment TSEN15 99.17 0 No comment TSEN2 99.38 0 No comment TSEN34 99.39 0 No comment TSEN54 96.81 0 No comment TSFM 91.27 0 No comment TSHB 99.78 0 No comment TSHR 99.48 0 No comment TSPAN7 97.97 0 No comment TSPAN8 98.82 0 No comment TTBK2 98.86 0 No comment TTC19 96.22 0 No comment SKIC3 99.15 0 No comment TTC5 99.03 0 No comment TTC7A 98.98 0 No comment TTC8 98.53 0 No comment TTI2 99.31 0 No comment TTN 99.43 0 No comment TTPA 96.73 0 No comment TTR 98.18 0 No comment TUBA1A 99.98 0 No comment TUBA8 99.57 0 No comment TUBAL3 99.75 0 No comment TUBB 99.92 0 No comment TUBB2A 99.92 0 No comment TUBB2B 99.64 0 No comment TUBB3 99.69 0 No comment TUBB4A 99.78 0 No comment TUBG1 99.68 0 No comment TUBGCP4 98.92 0 No comment TUBGCP6 99.55 0 No comment TUFM 99.36 0 No comment TUSC3 99.50 0 No comment TWIST1 87.92 0 No comment TWIST2 99.24 0 No comment TXNL4A 99.72 0 No comment TYR 99.29 0 No comment TYRP1 99.39 0 No comment UBA5 98.17 0 No comment UBE2A 88.22 0 No comment UBE3A 99.06 0 No comment UBE3B 98.65 0 No comment UBR1 99.11 0 No comment UBR4 98.90 0 No comment UBR7 97.01 0 No comment UBTF 99.61 0 No comment UFC1 99.37 0 No comment UFM1 99.16 0 No comment UGP2 98.46 0 No comment UGT1A1 99.45 0 No comment UMPS 98.48 0 No comment UNC13A 99.25 0 No comment UNC80 98.86 0 No comment UPB1 99.39 0 No comment UPF3B 94.60 0 No comment UQCRB 99.87 0 No comment UQCRQ 99.36 0 No comment UROC1 99.06 0 No comment UROS 99.56 0 No comment USB1 99.41 0 No comment USP18 99.79 0 No comment USP27X 99.46 0 No comment USP7 99.02 0 No comment USP9X 95.44 0 No comment UTP14A 97.77 0 No comment UVSSA 99.24 0 No comment VAMP1 96.99 0 No comment VAMP2 99.53 0 No comment VAMP7 96.50 0 No comment VARS1 99.74 0 No comment VDR 97.94 0 No comment CPAMD8 98.98 0 No comment VIPAS39 98.17 0 No comment VLDLR 99.08 0 No comment VPS11 99.39 0 No comment VPS13B 98.28 0 No comment VPS33B 99.23 0 No comment VPS35 99.22 0 No comment VPS51 99.19 0 No comment VPS53 97.29 0 No comment VRK1 98.70 0 No comment VSX2 98.36 0 No comment WAC 98.16 0 No comment WARS2 99.20 0 No comment WASF1 98.47 0 No comment WDFY3 99.10 0 No comment WDPCP 98.96 0 No comment WDR11 99.19 0 No comment WDR13 96.77 0 No comment WDR19 98.40 0 No comment WDR26 98.93 0 No comment DYNC2I2 98.79 0 No comment WDR35 99.09 0 No comment WDR37 99.18 0 No comment WDR4 98.27 0 No comment WDR45 97.90 0 No comment WDR45B 99.15 0 No comment DYNC2I1 98.85 0 No comment WDR62 99.01 0 No comment WDR73 99.05 0 No comment WDR81 99.65 0 No comment WFS1 99.63 0 No comment NSD2 99.05 0 No comment WIPI2 98.93 0 No comment WNK3 97.70 0 No comment WNT1 98.69 0 No comment WNT10B 98.91 0 No comment WNT3 99.00 0 No comment WNT4 93.68 0 No comment WNT5A 98.73 0 No comment WNT7A 99.49 0 No comment WRAP53 98.86 0 No comment WRN 98.36 0 No comment WT1 98.77 0 No comment WWC3 96.63 0 No comment WWOX 99.58 0 No comment XIAP 97.48 0 No comment XK 96.00 0 No comment XKRX 98.90 0 No comment XPA 99.29 0 No comment XPC 98.92 0 No comment XPNPEP3 99.18 0 No comment XRCC4 98.59 0 No comment XYLT1 90.22 0 No comment YAP1 98.22 0 No comment YARS1 99.78 0 No comment YWHAG 99.64 0 No comment YY1 98.44 0 No comment ZBTB11 99.16 0 No comment ZBTB16 99.58 0 No comment ZBTB18 98.72 0 No comment ZBTB20 99.54 0 No comment ZBTB24 99.82 0 No comment ZBTB40 99.17 0 No comment ZC3H14 98.92 0 No comment ZC4H2 96.37 0 No comment ZCCHC12 98.81 0 No comment ZCCHC8 92.04 0 No comment ZDHHC15 90.89 0 No comment ZDHHC9 97.43 0 No comment ZEB2 98.91 0 No comment ZFHX4 99.34 0 No comment ZFP57 99.93 0 No comment ZFX 98.98 0 No comment ZFYVE26 99.08 0 No comment ZIC1 99.80 0 No comment ZIC2 89.81 0 No comment ZIC3 99.00 0 No comment ZMIZ1 99.16 0 No comment ZMPSTE24 98.12 0 No comment ZMYM3 97.06 0 No comment ZMYM6 98.59 0 No comment ZMYND11 99.29 0 No comment ZMYND12 98.18 0 No comment ZNF142 99.52 0 No comment ZNF148 99.29 0 No comment ZNF292 99.59 0 No comment ZNF335 98.86 0 No comment ZNF41 99.12 0 No comment ZNF425 99.39 0 No comment ZNF462 99.73 0 No comment ZNF526 99.70 0 No comment ZNF592 99.65 0 No comment ZNF599 99.82 0 No comment ZNF674 98.90 0 No comment ZNF711 97.16 0 No comment ZNF713 99.38 0 No comment ZNF81 99.07 0 No comment ZSWIM6 88.76 0 No comment -
Retinal dystrophy - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA4 99.30 1 ABCC6 98.57 1 ABHD12 99.98 1 ACBD5 99.97 1 ACO2 99.99 1 ADAM9 99.89 1 ADAMTS18 99.99 1 ADGRA3 99.90 1 ADGRV1 99.80 1 ADIPOR1 99.83 1 AFG3L2 99.97 1 AGBL5 99.98 1 AHI1 99.86 1 AHR 99.79 1 AIPL1 100.00 1 ALMS1 99.90 1 ARHGEF18 99.97 1 ARL2BP 99.89 1 ARL3 99.98 1 ARL6 99.90 1 ARMS2 100.00 1 ARSG 100.00 1 ASRGL1 99.84 1 ATF6 98.19 1 ATXN7 99.98 1 BBIP1 99.99 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BEST1 99.86 1 MFRP 100.00 1 C2 99.99 1 C3 100.00 1 CA4 100.00 1 CABP4 100.00 1 CACNA1F 99.94 1 CACNA2D4 99.99 1 CAPN5 99.88 1 CC2D2A 99.95 1 CCT2 98.46 1 CDH23 99.95 1 CDH3 99.98 1 CDHR1 99.72 1 CEP164 99.99 1 CEP19 99.99 1 CEP250 99.93 1 CEP290 98.10 1 CEP78 99.95 1 CERKL 99.91 1 CFAP410 100.00 1 CFAP418 100.00 1 CFB 99.97 1 CFH 99.12 1 CHM 96.46 1 CIB2 100.00 1 CLCC1 93.17 1 CLN3 99.92 1 CLRN1 99.99 1 CLUAP1 99.95 1 CNGA1 99.60 1 CNGA3 99.95 1 CNGB1 97.53 1 CNGB3 99.96 1 CNNM4 99.93 1 COL11A1 90.72 1 COL2A1 99.87 1 COL9A1 99.91 1 CRB1 99.73 1 CRX 99.96 1 CSPP1 98.31 1 CTNNA1 99.98 1 CWC27 99.67 1 CYP4V2 99.98 1 DHDDS 98.65 1 DHX38 99.97 1 DMD 99.76 1 DRAM2 96.06 1 DTHD1 99.92 1 DYNC2H1 99.66 1 EFEMP1 99.68 1 ELOVL1 100.00 1 ELOVL4 99.91 1 EMC1 99.85 1 ERCC6 99.60 1 ESPN 100.00 1 EXOSC2 100.00 1 EYS 99.86 1 FAM161A 99.77 1 FBLN5 100.00 1 FBN2 99.90 1 FLVCR1 99.91 1 FSCN2 100.00 1 FZD4 100.00 1 GDF6 100.00 1 GNAT1 100.00 1 GNAT2 99.87 1 GNB3 100.00 1 GNPTG 100.00 1 GPR179 99.99 1 GRID2 99.97 1 GRK1 99.99 1 GRM6 100.00 1 GUCA1A 100.00 1 GUCA1B 99.99 1 GUCY2D 100.00 1 HARS1 99.96 1 HGSNAT 99.93 1 HK1 99.97 1 HMCN1 99.44 1 HMX1 100.00 1 HTRA1 100.00 1 IDH3A 99.98 1 IDH3B 100.00 1 IFT140 100.00 1 IFT172 99.98 1 IFT27 100.00 1 IFT43 99.97 1 IFT81 94.64 1 IFT88 98.26 1 IMPDH1 92.77 1 IMPG1 99.93 1 IMPG2 99.97 1 INPP5E 99.85 1 INVS 99.94 1 IQCB1 99.72 1 ITM2B 99.85 1 JAG1 100.00 1 KCNJ13 99.99 1 KCNV2 99.97 1 KIAA1549 99.98 1 KIF11 99.84 1 KIF3B 99.99 1 KIZ 99.98 1 KLHL7 99.95 1 LAMA1 99.98 1 LAMB2 99.99 1 LCA5 99.89 1 LRAT 100.00 1 LRIT3 100.00 1 LRP5 99.95 1 LZTFL1 100.00 1 MAK 99.47 1 MAPKAPK3 99.97 1 MERTK 98.90 1 MFN2 99.98 1 MFSD8 99.70 1 MIR204 100.00 1 MKKS 100.00 1 MKS1 99.92 1 MTRFR 99.87 1 MTTP 99.92 1 MVK 99.97 1 MYO7A 99.96 1 NBAS 99.86 1 NDP 99.98 1 NEK2 95.09 1 NEUROD1 100.00 1 NMNAT1 99.93 1 NPHP1 99.05 1 NPHP3 99.89 1 NPHP4 99.98 1 NR2E3 100.00 1 NR2F1 99.99 1 NRL 100.00 1 NYX 100.00 1 OAT 90.17 1 OFD1 99.68 1 MED12 99.95 1 OPA3 100.00 1 OPN1LW 71.75 1 OPN1MW 30.23 1 OPN1SW 99.97 1 OTX2 100.00 1 PANK2 99.99 1 PAX2 99.99 1 PCARE 100.00 1 PCDH15 99.71 1 PCYT1A 100.00 1 PDE6A 99.98 1 PDE6B 100.00 1 PDE6C 99.91 1 PDE6G 100.00 1 PDE6H 99.97 1 PDZD7 98.09 1 PEX1 98.80 1 PEX2 100.00 1 PEX6 99.99 1 PEX7 99.72 1 PGK1 99.93 1 PHYH 100.00 1 PITPNM3 99.98 1 PLA2G5 99.91 1 PLK4 99.89 1 PNPLA6 99.99 1 POC1B 100.00 1 POC5 99.85 1 POMGNT1 99.69 1 PRCD 100.00 1 PRDM13 99.99 1 PROM1 99.97 1 PRPF3 99.73 1 PRPF31 99.99 1 PRPF4 99.96 1 PRPF6 99.98 1 PRPF8 99.98 1 PRPH2 99.98 1 PRPS1 99.95 1 RAB28 99.97 1 RAX2 100.00 1 RB1 99.84 1 RBP3 99.99 1 RBP4 99.99 1 RCBTB1 99.99 1 RD3 100.00 1 RDH11 99.99 1 RDH12 99.98 1 RDH5 100.00 1 REEP6 100.00 1 RGR 99.79 1 RGS9BP 100.00 1 RHO 100.00 1 RIMS1 99.85 1 RIMS2 99.97 1 RLBP1 99.99 1 ROM1 100.00 1 MAPRE2 99.98 1 RP1L1 100.00 1 RP2 99.58 1 RP9 99.83 1 RPE65 98.99 1 RPGR 94.45 1 RPGRIP1 99.95 1 RPGRIP1L 96.35 1 RS1 99.92 1 RTN4IP1 99.98 1 SAG 99.98 1 SAMD11 100.00 1 SAMD7 99.99 1 SCAPER 99.75 1 SCLT1 95.17 1 SDCCAG8 100.00 1 SEMA4A 99.81 1 SF3B2 99.98 1 SLC24A1 99.92 1 SLC25A46 99.88 1 SLC6A6 99.98 1 SLC7A14 99.99 1 SNRNP200 99.60 1 SPATA7 99.80 1 GPKOW 100.00 1 TEAD1 99.97 1 TIMM8A 100.00 1 TIMP3 100.00 1 TLR3 99.99 1 TLR4 99.99 1 TMEM126A 99.88 1 TMEM216 99.98 1 TMEM237 99.30 1 TOPORS 99.99 1 TREX1 100.00 1 TRIM32 100.00 1 TRNT1 99.97 1 TRPM1 99.96 1 TSPAN12 99.89 1 TTC8 99.67 1 TTLL5 99.95 1 TTPA 99.88 1 TUB 100.00 1 TUBGCP4 99.80 1 TUBGCP6 100.00 1 TULP1 99.99 1 UNC119 100.00 1 USH1C 99.99 1 USH1G 100.00 1 USH2A 99.88 1 VCAN 99.99 1 WDPCP 99.87 1 WDR19 99.80 1 WFS1 99.99 1 WHRN 99.96 1 ZNF408 99.99 1 ZNF423 98.94 1 ZNF513 99.97 1 -
Usher syndrome (10 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CDH23 CLRN1 WHRN ADGRV1 MYO7A PCDH15 PDZD7 USH1C USH1G USH2A