- Genetic tests
- Early onset epileptic encephalopathy (gene panel - 845 genes)
Early onset epileptic encephalopathy (gene panel - 845 genes)
Full name: |
Early onset epileptic encephalopathy (gene panel - 845 genes)
|
Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
|
Turnaround time (maximum): |
6 months
|
Created: |
22 Aug 2019 - 11:14
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Changed: |
24 Jan 2024 - 08:14
|
URL: |
- AAAS
- AARS1
- AARS2
- AASS
- ABAT
- ABCB1
- ABCC8
- ABCD1
- ACADM
- ACADS
- ACADSB
- ACD
- ACO2
- ACOX1
- ACSF3
- ACTB
- ACTG1
- ACVR1
- ACY1
- ADAR
- ADGRG1
- ADGRV1
- ADK
- ADRA2B
- ADSL
- AFG3L2
- AGA
- AGTR2
- AHI1
- AIFM1
- AIMP1
- AKT2
- AKT3
- ALDH18A1
- ALDH3A2
- ALDH4A1
- ALDH5A1
- ALDH7A1
- ALG1
- ALG11
- ALG12
- ALG13
- ALG2
- ALG3
- ALG6
- ALG8
- ALG9
- ALMS1
- AMACR
- AMER1
- AMT
- ANKH
- ANKRD11
- ANTXR1
- AP3B2
- AP4E1
- APTX
- AR
- ARFGEF2
- ARG1
- ARHGEF15
- ARHGEF9
- ARID1A
- ARID1B
- ARL13B
- ARSA
- ARV1
- ARX
- ASAH1
- ASL
- ASNS
- ASPA
- ASPM
- ASS1
- ASXL1
- ATAD1
- ATIC
- ATN1
- ATP13A2
- ATP1A2
- ATP1A3
- ATP2A2
- ATP5F1A
- ATP6AP2
- ATP6V0A2
- ATP7A
- ATPAF2
- ATRX
- ATXN10
- ATXN2
- AUH
- AVPR2
- B3GALNT2
- B3GNT2
- B4GALT1
- BCAP31
- BCKDHA
- BCKDHB
- BCKDK
- BCS1L
- BOLA3
- BRAF
- BRAT1
- BRD2
- BSCL2
- BTD
- BUB1B
- C12ORF57
- CACNA1A
- CACNA1D
- CACNA1G
- CACNA1H
- CACNA2D1
- CACNA2D2
- CACNB4
- CAD
- CARS2
- CASK
- CASQ2
- CASR
- CBL
- CBS
- CC2D2A
- CCBE1
- CCDC88C
- CCL2
- CCM2
- CDK5RAP2
- CDKL5
- CDON
- CELSR1
- CENPJ
- CEP135
- CEP152
- CEP164
- CEP290
- CEP41
- CEP63
- CERS1
- CHD2
- CHD8
- CHKB
- CHMP1A
- CHRNA2
- CHRNA4
- CHRNA7
- CHRNB2
- CIC
- CLCN1
- CLCN2
- CLCN4
- CLCNKA
- CLCNKB
- CLDN16
- CLIC2
- CLN3
- CLN5
- CLN6
- CLN8
- CLPP
- CNKSR2
- CNNM2
- CNTN2
- CNTNAP2
- COA5
- COG1
- COG4
- COG5
- COG6
- COG7
- COG8
- COL18A1
- COL4A1
- COL4A2
- COQ2
- COQ4
- COQ6
- COQ8A
- COQ9
- COX10
- COX14
- COX15
- COX20
- COX6B1
- COX8A
- CPLANE1
- CPT1A
- CPT2
- CRH
- CRLF1
- CRPPA
- CSNK1G1
- CSPP1
- CSTB
- CTC1
- CTSA
- CTSD
- CTSF
- CUL4B
- CYP21A2
- CYP27A1
- CYP27B1
- CYP2A6
- D2HGDH
- DARS2
- DBT
- DCHS1
- DCX
- DDC
- DDOST
- DDX3X
- DENND5A
- DEPDC5
- DHCR24
- DHCR7
- DHFR
- DIAPH1
- DLD
- DLGAP2
- DMD
- DNAJC5
- DNAJC6
- DNM1
- DNM1L
- DOCK6
- DOCK7
- DOLK
- DPAGT1
- DPM1
- DPM2
- DPM3
- DPYD
- DPYS
- DYNC1H1
- DYRK1A
- EARS2
- ECM1
- EEF1A2
- EFHC1
- EFHC2
- EFTUD2
- EHMT1
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- EIF2S3
- ELOVL4
- ELP1
- ELP4
- EML1
- EMX2
- EOMES
- EPG5
- EPM2A
- EPRS
- ERBB4
- ERLIN2
- ERMARD
- ETFA
- ETFB
- ETFDH
- ETHE1
- EXOC6B
- EXOSC3
- EZH2
- FA2H
- FADD
- FARS2
- FASN
- FASTKD2
- FAT4
- FBXL4
- FGD1
- FGF12
- FGF8
- FGFR3
- FH
- FKRP
- FKTN
- FLNA
- FLVCR2
- FMR1
- FOLR1
- FOXG1
- FOXH1
- FOXRED1
- FRRS1L
- FTL
- FTO
- FUCA1
- GABBR2
- GABRA1
- GABRA3
- GABRB1
- GABRB2
- GABRB3
- GABRD
- GABRG2
- GAL
- GALC
- GALNS
- GAMT
- GATA3
- GATA6
- GATAD2B
- GATM
- GBA1
- GCDH
- GCH1
- GCK
- GCM2
- GCSH
- GFAP
- GFM1
- GJC2
- GLA
- GLB1
- GLDC
- GLI2
- GLI3
- GLRA1
- GLRB
- GLUD1
- GLUL
- GLYCTK
- GM2A
- GMPPB
- GNAO1
- GNB1
- GNE
- GNPTAB
- GNPTG
- GNS
- GOSR2
- GPC3
- GPHN
- GRIA3
- GRIN1
- GRIN2A
- GRIN2B
- GRIN2D
- GRINA
- GRN
- GSS
- GTPBP3
- GUF1
- GUSB
- HACE1
- HADH
- HAX1
- HCCS
- HCFC1
- HCN1
- HCN4
- HDAC4
- HDAC8
- HEPACAM
- HERC2
- HESX1
- HEXA
- HEXB
- HGSNAT
- HLCS
- HMBS
- HMGCL
- HNRNPH1
- HNRNPH2
- HNRNPU
- HPD
- HRAS
- HSD17B10
- HSD17B4
- HSPD1
- HTRA2
- HYAL1
- HYCC1
- IDH2
- IDS
- IDUA
- IER3IP1
- INPP5E
- INS
- INSR
- IQSEC2
- ITPA
- IVD
- JAM3
- JRK
- KANSL1
- KAT6B
- KCNA1
- KCNA2
- KCNAB1
- KCNB1
- KCNC1
- KCND2
- KCNH1
- KCNH2
- KCNH5
- KCNJ1
- KCNJ10
- KCNJ11
- KCNK18
- KCNMA1
- KCNQ2
- KCNQ3
- KCNT1
- KCNV2
- KCTD7
- KDM5C
- KDM6A
- KIF11
- KIF2A
- KIF4A
- KIF5C
- KIF7
- KIFBP
- KMT2B
- KMT2D
- KNL1
- KPTN
- KRAS
- KRIT1
- L1CAM
- L2HGDH
- LAMA2
- LAMB1
- LAMC3
- LARGE1
- LBR
- LGI1
- LIAS
- LIG1
- LIG4
- LMBRD1
- LMNB2
- LRFN1
- LRFN2
- LRFN3
- LRFN4
- LRFN5
- LRP2
- LRPPRC
- MAGI2
- MAGT1
- MAN1B1
- MAP2K1
- MAP2K2
- MAPK10
- MBD5
- MBOAT7
- MBTPS2
- MCCC1
- MCOLN1
- MCPH1
- MDH2
- ME2
- MECP2
- MED12
- MED17
- MEF2C
- MFF
- MFSD8
- MGAT2
- MGME1
- MLC1
- MLYCD
- MMACHC
- MMADHC
- MMUT
- MOCS1
- MOCS2
- MOGS
- MPDU1
- MPDZ
- MPI
- MSX2
- MTHFR
- MTOR
- MTR
- MTRFR
- MTRR
- MYO5A
- NAA10
- NACC1
- NAGA
- NAGLU
- NALCN
- NARS2
- NDE1
- NDP
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA2
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFB3
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NECAP1
- NEDD4L
- NEU1
- NEXMIF
- NF1
- NFIX
- NGLY1
- NHEJ1
- NHLRC1
- NIN
- NIPA2
- NIPBL
- NLGN4X
- NLGN4Y
- NODAL
- NOTCH3
- NPC1
- NPC2
- NPHP1
- NPRL2
- NPRL3
- NRAS
- NRXN1
- NSD1
- NSDHL
- NUBPL
- OCLN
- OCRL
- OFD1
- OPHN1
- OTC
- OTX2
- PACS2
- PAFAH1B1
- PAH
- PAK3
- PANK2
- PAX6
- PCBD1
- PCCA
- PCCB
- PCDH19
- PCNT
- PDCD10
- PDE6D
- PDGFB
- PDGFRB
- PDHA1
- PDHX
- PDP1
- PDSS1
- PDSS2
- PET100
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PGAP2
- PGAP3
- PGK1
- PGM1
- PHF6
- PHGDH
- PIGA
- PIGL
- PIGM
- PIGN
- PIGO
- PIGP
- PIGQ
- PIGT
- PIGV
- PIK3AP1
- PIK3CA
- PIK3R2
- PLA2G6
- PLCB1
- PLP1
- PLPBP
- PMM2
- PNKP
- PNPO
- PODXL
- POLG
- POLG2
- POLR3A
- POLR3B
- POMC
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- PPFIA1
- PPFIA2
- PPFIA3
- PPFIA4
- PPFIBP1
- PPFIBP2
- PPP2R2C
- PPT1
- PQBP1
- PRDM8
- PRF1
- PRICKLE1
- PRICKLE2
- PRODH
- PRRT2
- PSAP
- PSAT1
- PSPH
- PTCH1
- PTEN
- PTH
- PTPN11
- PTS
- PURA
- QARS1
- QDPR
- RAB18
- RAB27A
- RAB39B
- RAB3GAP1
- RAB3GAP2
- RAD21
- RAF1
- RAI1
- RANBP2
- RANGAP1
- RARS2
- RBBP8
- RBFOX1
- RBFOX3
- RELN
- RFT1
- RGMA
- RHOBTB2
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- ROGDI
- RORB
- RPGRIP1L
- RPIA
- RRM2B
- RTTN
- RUBCN
- RXYLT1
- RYR3
- SAMHD1
- SATB2
- SCARB2
- SCN10A
- SCN1A
- SCN1B
- SCN2A
- SCN2B
- SCN3A
- SCN3B
- SCN4A
- SCN4B
- SCN5A
- SCN8A
- SCN9A
- SCO2
- SDHA
- SDHAF1
- SEPSECS
- SERPINI1
- SETBP1
- SETD5
- SGSH
- SHANK3
- SHH
- SHOC2
- SHROOM4
- SIK1
- SIX3
- SLC12A5
- SLC12A6
- SLC13A5
- SLC16A1
- SLC16A2
- SLC17A5
- SLC19A3
- SLC1A2
- SLC1A3
- SLC20A2
- SLC25A1
- SLC25A12
- SLC25A15
- SLC25A19
- SLC25A20
- SLC25A22
- SLC2A1
- SLC2A2
- SLC35A1
- SLC35A2
- SLC35A3
- SLC35C1
- SLC3A2
- SLC46A1
- SLC4A10
- SLC6A1
- SLC6A19
- SLC6A5
- SLC6A8
- SLC6A9
- SLC9A6
- SLC9A9
- SLURP1
- SMARCA1
- SMARCA2
- SMARCA4
- SMARCB1
- SMARCE1
- SMC1A
- SMC3
- SMPD1
- SNAP25
- SNAP29
- SNIP1
- SOS1
- SOX10
- SOX2
- SPRED1
- SPTAN1
- SRD5A3
- SRGAP3
- SRPX2
- ST3GAL3
- ST3GAL5
- STAMBP
- STIL
- STRADA
- STX1B
- STXBP1
- SUCLA2
- SUCLG1
- SUMF1
- SUOX
- SURF1
- SYN1
- SYNGAP1
- SYNJ1
- SYP
- SZT2
- TACO1
- TBC1D20
- TBC1D24
- TBCE
- TBL1XR1
- TBX1
- TCF4
- TCF7L2
- TCTN1
- TCTN2
- TCTN3
- TGIF1
- TK2
- TMEM138
- TMEM165
- TMEM216
- TMEM231
- TMEM237
- TMEM67
- TMEM70
- TNK2
- TRAK1
- TREM2
- TREX1
- TRPM6
- TSC1
- TSC2
- TSEN2
- TSEN34
- TSEN54
- TTC21B
- TTN
- TTR
- TUBA1A
- TUBA8
- TUBB2A
- TUBB2B
- TUBB3
- TUBB4A
- TUBG1
- TUSC3
- TWNK
- TYROBP
- UBA5
- UBE2A
- UBE3A
- UBR5
- UPB1
- VANGL1
- VARS1
- VDAC1
- VLDLR
- VPS13A
- VPS13B
- VPS53
- VRK1
- WDR45
- WDR45B
- WDR62
- WFS1
- WWOX
- XK
- YWHAG
- ZBTB18
- ZC4H2
- ZDHHC9
- ZEB2
- ZIC2
- ZNF335
- ZNF423
-
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